AiPD: Autoinhibited Protein Database

P49418

Gene name	AMPH (AMPH1)
Protein name	Amphiphysin
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:273
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

213-648 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

213-648 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

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

Autoinhibited structure

Activated structure

7 structures for P49418

Entry ID	Method	Resolution	Chain	Position	Source
1KY7	X-ray	215 A	P	322-330	PDB
1UTC	X-ray	230 A	P/Q	379-387	PDB
3SOG	X-ray	230 A	A	34-236	PDB
4ATM	X-ray	178 A	A	1-242	PDB
5M5S	X-ray	188 A	E/F/G/H	349-358	PDB
5M61	X-ray	184 A	E/F/G/H	349-360	PDB
AF-P49418-F1	Predicted				AlphaFoldDB

538 variants for P49418

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1272212698 CA367297547	4	I>M		No	ClinGen gnomAD
TCGA novel	6	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA367297529 rs1340861928	7	G>V		No	ClinGen gnomAD
CA367297525 rs1453668474	8	I>V		No	ClinGen TOPMed
rs1361967763 CA367297517	9	F>V		No	ClinGen TOPMed
rs1438502684 CA367297510	10	A>D		No	ClinGen gnomAD
rs749611316 CA367297511	10	A>P		No	ClinGen ExAC gnomAD
rs749611316 CA4226136	10	A>S		No	ClinGen ExAC gnomAD
rs749611316 CA4226137	10	A>T		No	ClinGen ExAC gnomAD
CA4226135 rs780415781	13	V>F		No	ClinGen ExAC gnomAD
rs868741417 COSM291105 CA157581852	16	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1157786301 CA367297456	18	N>S		No	ClinGen gnomAD
CA367297451 rs1167469290	19	R>C		No	ClinGen gnomAD
rs1443014571 CA367281277	24	V>D		No	ClinGen TOPMed
rs1325755200 CA367281280	24	V>F		No	ClinGen gnomAD
CA4226122 rs767485784	25	L>F		No	ClinGen ExAC TOPMed gnomAD
CA157571202 COSM3768363 rs943386903	27	K>N	liver [Cosmic]	No	ClinGen cosmic curated Ensembl
TCGA novel	31	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4226119 rs141452785	32	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1225296606 CA367281080	35	K>E		No	ClinGen gnomAD
CA367281047 rs1234092625	37	E>A		No	ClinGen gnomAD
CA157571200 rs771742587	37	E>K		No	ClinGen TOPMed gnomAD
rs544763333 CA157571199	38	Q>L		No	ClinGen gnomAD
rs781682680 COSM1089484 CA4226114	40	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	41	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1562812789 CA367280985	45	N>K		No	ClinGen Ensembl
rs956339668 CA157571198	45	N>S		No	ClinGen TOPMed
rs1157638223 CA367280972	47	K>E		No	ClinGen gnomAD
rs1419555499 CA367280963	48	R>Q		No	ClinGen gnomAD
rs147234401 CA4226109 RCV000896600	48	R>W		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs968924078 CA157571197	49	Q>H		No	ClinGen Ensembl
TCGA novel	50	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA157571196 rs1023213322	50	E>K		No	ClinGen Ensembl
rs1354574545 CA367286756	51	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1396277693 CA367286749	51	A>V		No	ClinGen gnomAD
CA4226097 rs776892631	53	G>C		No	ClinGen ExAC gnomAD
rs1460488669 CA367286706	54	T>I		No	ClinGen gnomAD
rs1195839874 CA367286668	56	L>R		No	ClinGen gnomAD
CA4226096 rs771517892 COSM1450617	58	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs747570486 CA4226095 COSM231746	58	R>Q	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA4226094 rs778537683	60	L>V		No	ClinGen ExAC gnomAD
CA4226093 rs760489841	61	R>Q		No	ClinGen ExAC gnomAD
rs1562795330 CA367286592	62	G>E		No	ClinGen Ensembl
rs779702988 CA4226091	69	G>C		No	ClinGen ExAC gnomAD
CA367284356 rs1405711446	69	G>D		No	ClinGen TOPMed
CA4226064 COSM3381911 rs758290306	70	M>T	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1167240285 CA367284347	70	M>V		No	ClinGen TOPMed
CA367284308 rs1462816483	71	Q>R		No	ClinGen gnomAD
CA367284237 rs1200233934	73	A>V		No	ClinGen Ensembl
CA4226063 rs535127955	74	S>F		No	ClinGen 1000Genomes ExAC gnomAD
CA4226062 rs780685813	75	M>V		No	ClinGen ExAC TOPMed gnomAD
rs754062522 CA4226060	78	T>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	79	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4226058 rs761049841	80	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4226054 rs775046404	85	Y>C		No	ClinGen ExAC gnomAD
CA367283962 rs1187252662	86	E>V		No	ClinGen gnomAD
TCGA novel	87	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745531224 CA4226052	91	G>R		No	ClinGen ExAC gnomAD
rs200060107 CA4226050	92	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1728761 rs776200425 CA4226051	92	R>W	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA4226049 rs746757970	94	D>E		No	ClinGen ExAC TOPMed gnomAD
CA4226048 rs777574619	95	V>L		No	ClinGen ExAC TOPMed gnomAD
rs569700463 CA157220929	98	V>A		No	ClinGen 1000Genomes
rs546244149 CA4226036	101	K>E		No	ClinGen 1000Genomes ExAC gnomAD
rs773050809 CA157219150	102	C>R		No	ClinGen Ensembl
CA157219148 rs979222143	102	C>Y		No	ClinGen Ensembl
CA367282991 rs1250506900	103	D>E		No	ClinGen gnomAD
CA367282989 rs1234655947	104	V>M		No	ClinGen gnomAD
rs1352953228 CA367282980	105	L>P		No	ClinGen gnomAD
TCGA novel	107	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4226034 rs776141913	108	D>A		No	ClinGen ExAC gnomAD
rs866081871 CA157219144	109	F>L		No	ClinGen TOPMed
rs947510100 CA157219138	110	H>R		No	ClinGen Ensembl
CA4226033 rs529727341	110	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs1167299845 CA367282911 COSM238775	114	V>M	Variant assessed as Somatic; 0.0 impact. central_nervous_system prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA367282895 rs1459949553	115	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1338903221 CA367282887	116	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1194550037 CA367282852	119	L>I		No	ClinGen gnomAD
TCGA novel	119	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772967761 CA4226030	122	D>V		No	ClinGen ExAC gnomAD
CA367282799 rs1315626119	123	T>I		No	ClinGen gnomAD
TCGA novel	126	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	126	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771817752 CA4226029	127	Q>K		No	ClinGen ExAC gnomAD
rs748110437 CA4226028	131	I>L		No	ClinGen ExAC TOPMed gnomAD
rs778645184 CA4226027	131	I>M		No	ClinGen ExAC gnomAD
rs138538388 CA4226011	133	N>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4226009 COSM3229273 rs370790138	134	R>C	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD
rs1272402161 CA367280773	134	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1272402161 CA367280769	134	R>L		No	ClinGen TOPMed gnomAD
CA4226010 rs370790138	134	R>S		No	ClinGen ESP ExAC gnomAD
CA4226008 rs199508672	135	I>M		No	ClinGen ExAC TOPMed gnomAD
CA367280750 rs1199538704	136	A>T		No	ClinGen TOPMed
CA367280742 rs1256407792	136	A>V		No	ClinGen TOPMed
rs147124840 CA157212752	137	K>Q		No	ClinGen ESP
rs1348357360 COSM1568997 CA367280725	138	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs375161752 CA157212745 COSM3412022	138	R>H	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD
TCGA novel	140	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781216086 CA4226003	145	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA367280578 rs1440266958	149	R>C		No	ClinGen TOPMed
COSM187265 CA4226002 rs768583906	149	R>H	large_intestine Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
TCGA novel	150	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA157212703 rs149399933	153	E>V		No	ClinGen ESP TOPMed gnomAD
rs778240666 CA4226000	154	A>S		No	ClinGen ExAC gnomAD
CA4225999 rs758879636	157	S>N		No	ClinGen ExAC gnomAD
CA367280408 rs1375730206	158	S>P		No	ClinGen TOPMed
TCGA novel	160	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1173442390 CA367280282	163	E>D		No	ClinGen TOPMed
rs533242701 CA4225997	163	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA4225996 rs764670438	164	S>G		No	ClinGen ExAC TOPMed gnomAD
CA367280261 rs1203787059	165	R>*		No	ClinGen gnomAD
CA157212681 rs1032416581	165	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs749960340 CA4225995	166	I>V		No	ClinGen ExAC
rs370453880 CA4225994	167	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs776550761 CA4225967	171	E>*		No	ClinGen ExAC gnomAD
CA367279628 rs1472453936	172	E>*		No	ClinGen gnomAD
rs771100487 CA4225966	172	E>V		No	ClinGen ExAC gnomAD
rs747190388 CA4225965	173	F>L		No	ClinGen ExAC TOPMed gnomAD
CA4225964 rs773354632	174	Q>H		No	ClinGen ExAC gnomAD
rs772291381 CA4225963	175	K>T		No	ClinGen ExAC gnomAD
CA4225962 rs199555769	178	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs779276534 CA4225961	180	F>Y		No	ClinGen ExAC gnomAD
rs755442696 CA4225960	182	E>V		No	ClinGen ExAC gnomAD
CA4225958 rs138907301 COSM1580475	185	V>I	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1364838408 CA367279530	186	D>N		No	ClinGen gnomAD
CA157211984 rs267601510	189	E>K		No	ClinGen Ensembl
rs1174104021 CA367292462 COSM1089480	198	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs749621749 CA4225940	201	F>V		No	ClinGen ExAC TOPMed gnomAD
CA367292381 rs1329521820	203	V>A		No	ClinGen TOPMed
rs770227233 CA4225938	204	N>K		No	ClinGen ExAC gnomAD
CA367292366 rs1470572108	204	N>S		No	ClinGen TOPMed gnomAD
rs746489891 CA4225937	206	F>L		No	ClinGen ExAC gnomAD
rs150251325 CA4225936	207	K>I		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	209	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200247377 CA4225934	209	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200247377 CA4225933	209	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1373584203 CA367292290	213	E>G		No	ClinGen gnomAD
rs201267643 CA4225932	217	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
VAR_053004 CA157248849 rs35166354	218	K>E		No	ClinGen UniProt Ensembl dbSNP
rs768225866 COSM1580474 CA4225931	221	A>V	Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA367292098 rs1400266172	224	C>F		No	ClinGen gnomAD
rs371631099 CA157248326	225	H>Q		No	ClinGen Ensembl
rs753625617 CA4225914	229	E>K		No	ClinGen ExAC TOPMed gnomAD
rs768725560 CA367291998	230	V>A		No	ClinGen TOPMed gnomAD
CA157248304 rs768725560	230	V>G		No	ClinGen TOPMed gnomAD
TCGA novel	234	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA157248285 rs547228202	235	G>S		No	ClinGen Ensembl
TCGA novel	236	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4225912 rs756052300	237	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs140760246 CA4225911	238	H>Y		No	ClinGen ESP ExAC gnomAD
CA157248237 rs867699717	239	A>S		No	ClinGen TOPMed gnomAD
CA367291863 rs867699717	239	A>T		No	ClinGen TOPMed gnomAD
rs751664082 CA4225908	240	D>N		No	ClinGen ExAC TOPMed gnomAD
CA367291792 rs764338468	242	A>S		No	ClinGen ExAC TOPMed
CA4225907 rs764338468	242	A>T		No	ClinGen ExAC TOPMed
CA4225906 rs374663206	248	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
COSM77259 CA4225903 rs760115221	249	P>S	ovary [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs369136799 CA4225857	250	S>R		No	ClinGen ESP ExAC gnomAD
rs776397586 CA4225855	252	S>L		No	ClinGen ExAC TOPMed gnomAD
CA4225853 rs746826863	254	P>A		No	ClinGen ExAC gnomAD
CA157246399 rs993439466	254	P>L		No	ClinGen Ensembl
CA4225852 rs777511764	256	R>C		No	ClinGen ExAC gnomAD
CA367290670 rs777511764	256	R>G		No	ClinGen ExAC gnomAD
rs772069356 CA4225851	256	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs772069356 CA367290666	256	R>L		No	ClinGen ExAC TOPMed gnomAD
CA367290655 rs1244528324	257	I>M		No	ClinGen TOPMed gnomAD
CA4225850 rs748136267	259	K>N		No	ClinGen ExAC gnomAD
rs560808720 COSM1450614 CA4225846	263	P>L	Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	264	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750823823 CA4225844	267	P>L		No	ClinGen ExAC gnomAD
rs767876446 CA4225843	269	P>S		No	ClinGen ExAC gnomAD
rs376003397 CA157246327	270	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA4225841 rs376003397	270	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA157246328 rs376003397	270	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA4225840 rs540619394	271	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA157246322 rs540619394	271	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1447929216 CA367290471	272	S>N		No	ClinGen gnomAD
CA367290453 COSM138615 rs571506461	273	P>L	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA4225839 rs571506461	273	P>R		No	ClinGen ExAC gnomAD
CA367290441 rs1284415051	274	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA4225837 rs770582455	275	A>T		No	ClinGen ExAC gnomAD
CA367290427 rs1272207754	276	S>G		No	ClinGen TOPMed
rs144982032 CA4225836	277	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1232831303 CA367290399	278	N>H		No	ClinGen TOPMed
rs773090034 CA4225835	279	H>L		No	ClinGen ExAC gnomAD
TCGA novel	282	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4225833 rs748161905	283	P>S		No	ClinGen ExAC gnomAD
CA4225832 rs779118225	284	A>V		No	ClinGen ExAC gnomAD
rs368302578 COSM746963 CA4225829	287	A>T	lung Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	288	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4225827 rs746190586	288	P>R		No	ClinGen ExAC TOPMed gnomAD
rs781660370 CA4225826	289	A>P		No	ClinGen ExAC TOPMed gnomAD
rs147284975 CA4225822	290	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
COSM1450612 CA4225823 rs112872886	290	R>W	pancreas large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA4225819 rs139909342	292	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs151055033 COSM173264 CA4225820	292	R>W	lung Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA367290186 rs1233049719	293	S>L		No	ClinGen gnomAD
CA367290198 rs1320053430	293	S>P		No	ClinGen TOPMed
rs376969284 CA4225818	294	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs767399373 CA4225817	296	Q>R		No	ClinGen ExAC gnomAD
CA367289436 rs1254597855	298	R>K		No	ClinGen gnomAD
rs1254597855 CA367289435	298	R>T		No	ClinGen gnomAD
CA157244945 rs1005752506	301	P>L		No	ClinGen TOPMed gnomAD
CA367289318 rs1238462562	301	P>T		No	ClinGen TOPMed gnomAD
CA157244931 rs1049620138	302	P>R		No	ClinGen Ensembl
CA4225804 rs753314715	302	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA157244937 rs753314715	302	P>T		No	ClinGen ExAC TOPMed gnomAD
CA367289257 rs1313652435	303	V>L		No	ClinGen gnomAD
CA367289247 rs1276047312	304	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA4225801 rs750152707	305	P>L		No	ClinGen ExAC gnomAD
CA4225802 rs755704877	305	P>T		No	ClinGen ExAC TOPMed gnomAD
CA157244886 rs1040956573	308	K>E		No	ClinGen gnomAD
rs1040956573 CA367289190	308	K>Q		No	ClinGen gnomAD
CA367289133 rs1336249940	310	T>I		No	ClinGen TOPMed gnomAD
CA367289138 rs1336249940	310	T>N		No	ClinGen TOPMed gnomAD
CA4225796 rs374682461	311	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	311	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA367289117 rs1304933126	312	T>A		No	ClinGen gnomAD
CA4225793 rs370918715	315	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1584121572 CA367289024	316	Q>*		No	ClinGen Ensembl
rs776857039 CA4225792	316	Q>H		No	ClinGen ExAC gnomAD
CA4225790 rs747333756	322	S>C		No	ClinGen ExAC gnomAD
rs752832834 CA4225789	324	F>S		No	ClinGen ExAC TOPMed gnomAD
COSM1313070 rs202128772 CA4225788	325	E>K	urinary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA367288904 rs1465052975	326	D>Y		No	ClinGen TOPMed gnomAD
rs550814285 CA367288892	327	N>K		No	ClinGen 1000Genomes ExAC gnomAD
CA367288894 rs1408270664	327	N>S		No	ClinGen gnomAD
rs1316327843 CA367288857	332	I>N		No	ClinGen TOPMed gnomAD
rs749912284 CA4225784	333	S>R		No	ClinGen ExAC gnomAD
CA4225783 rs148381298	334	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA367288837 rs1376643303	335	T>R		No	ClinGen gnomAD
CA4225781 rs751381263	336	T>A		No	ClinGen ExAC gnomAD
CA367288827 COSM1549902 rs1391062409	337	P>H	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1391062409 CA367288825	337	P>L		No	ClinGen TOPMed gnomAD
rs1173478637 CA367288828	337	P>S		No	ClinGen TOPMed
CA367288821 rs1223933526	338	S>F		No	ClinGen gnomAD
rs764043467 CA4225780	339	Q>R		No	ClinGen ExAC gnomAD
rs1007616757 CA157223689	340	N>S		No	ClinGen TOPMed
rs751328002 CA4225761	343	P>H		No	ClinGen ExAC gnomAD
rs758210193 CA4225759	345	V>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	346	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs948083184 CA157223663	347	K>E		No	ClinGen TOPMed
rs752458751 CA4225758	347	K>I		No	ClinGen ExAC gnomAD
CA4225757 rs765183592	348	E>K		No	ClinGen ExAC gnomAD
rs1290928640 CA367286320	349	E>K		No	ClinGen gnomAD
CA367286317 rs1290928640	349	E>Q		No	ClinGen gnomAD
CA157223658 rs139241910 COSM106367	353	D>N	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs766503060 CA4225754	354	L>P		No	ClinGen ExAC gnomAD
CA157223641 rs530978593	355	D>N		No	ClinGen 1000Genomes
rs1051637568 CA157223632	358	P>A		No	ClinGen TOPMed gnomAD
COSM3832751 rs773352593 CA4225752	359	F>L	breast [Cosmic]	No	ClinGen cosmic curated ExAC
TCGA novel	361	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4225750 rs762186644	362	E>K		No	ClinGen ExAC TOPMed gnomAD
CA367286110 rs1412104437	363	V>L		No	ClinGen gnomAD
CA4225749 rs376578741	365	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA4225748 rs769186615	366	A>S		No	ClinGen ExAC gnomAD
rs1377835683 CA367286029	367	G>D		No	ClinGen TOPMed gnomAD
rs776281084 CA4225746	367	G>R		No	ClinGen ExAC gnomAD
CA4225747 rs776281084	367	G>S		No	ClinGen ExAC gnomAD
CA4225745 rs770499948	368	S>F		No	ClinGen ExAC gnomAD
CA367286023 rs1177674042	368	S>T		No	ClinGen gnomAD
CA4225744 rs746532210	369	A>D		No	ClinGen ExAC gnomAD
rs939391412 CA157223583	370	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1443927075 CA367285956	371	V>A		No	ClinGen TOPMed
CA4225743 rs777520653	372	T>N		No	ClinGen ExAC gnomAD
CA4225742 rs142962296	374	S>L		No	ClinGen ESP ExAC TOPMed
VAR_053005 CA4225737 rs17171345 CA4225738 RCV000956475	376	M>I		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4225739 rs754929044	376	M>L		No	ClinGen ExAC TOPMed gnomAD
rs754929044 CA4225740	376	M>V		No	ClinGen ExAC TOPMed gnomAD
rs756125220 CA4225736	378	Q>E		No	ClinGen ExAC gnomAD
CA367285798 rs1468868996	378	Q>R		No	ClinGen TOPMed
CA367284855 rs1349118972	379	T>I		No	ClinGen TOPMed
CA4225724 rs771732083	379	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1562750780 CA367284841	380	L>F		No	ClinGen Ensembl
TCGA novel	382	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4225723 rs759201734	383	D>N		No	ClinGen ExAC gnomAD
CA157220310 rs140222015	385	W>*		No	ClinGen ESP TOPMed gnomAD
rs866753134 CA157220315	385	W>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs754663057	386	T>=	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	NCI-TCGA
CA4225722 rs200697979 RCV000897618	386	T>M		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA4225687 rs766923131	387	T>I		No	ClinGen ExAC gnomAD
CA4225686 rs761175828	388	S>G		No	ClinGen ExAC gnomAD
CA367283858 rs1172238298	388	S>N		No	ClinGen gnomAD
rs773940510 CA4225685	391	L>V		No	ClinGen ExAC gnomAD
CA4225684 rs558022203	392	V>I		No	ClinGen 1000Genomes ExAC gnomAD
rs762654210 CA4225683	393	Q>*		No	ClinGen ExAC gnomAD
rs936634704	394	P>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4225682 rs138512950	394	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	395	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs371065137 CA4225561	398	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA367283032 rs1444808020	403	F>S		No	ClinGen TOPMed gnomAD
TCGA novel	405	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1451013761 CA367282503	406	P>A		No	ClinGen TOPMed
rs760933532 CA4225548	409	T>A		No	ClinGen ExAC gnomAD
CA367282466 rs760933532	409	T>S		No	ClinGen ExAC gnomAD
CA4225545 rs139811167	410	S>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4225544 rs774660949	414	M>R		No	ClinGen ExAC gnomAD
CA4225542 rs745342103	417	D>E		No	ClinGen ExAC TOPMed gnomAD
CA367282374 rs1425001201	417	D>G		No	ClinGen gnomAD
rs769320049 CA4225543	417	D>N		No	ClinGen ExAC gnomAD
CA367282349 rs1458024151	419	S>N		No	ClinGen gnomAD
rs1348770405 CA367282328	420	M>I		No	ClinGen gnomAD
CA4225522 rs760249336	425	A>V		No	ClinGen ExAC gnomAD
CA367281580 rs1281188461	426	E>D		No	ClinGen TOPMed
CA4225521 rs772695203	427	S>C		No	ClinGen ExAC gnomAD
CA4225520 rs771785238	428	E>A		No	ClinGen ExAC gnomAD
rs1005453871 CA367281538	429	Q>E		No	ClinGen TOPMed
rs1005453871 CA157209907	429	Q>K		No	ClinGen TOPMed
CA157209899 rs891387766	429	Q>R		No	ClinGen Ensembl
CA4225519 rs747862983	430	A>S		No	ClinGen ExAC TOPMed gnomAD
CA157209894 rs150091535	430	A>V		No	ClinGen ESP TOPMed
CA367281504 rs1300102066	431	P>S	Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	431	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768564392 CA4225517	432	P>H		No	ClinGen ExAC gnomAD
rs768564392 CA4225516	432	P>L		No	ClinGen ExAC gnomAD
TCGA novel	434	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs925119015 CA157209881	435	P>Q		No	ClinGen Ensembl
CA4225514 rs779971440	437	A>E		No	ClinGen ExAC gnomAD
TCGA novel	438	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1446025850 CA367281389	440	P>A		No	ClinGen TOPMed gnomAD
rs756088309 CA4225513	440	P>L		No	ClinGen ExAC TOPMed gnomAD
rs750537808 CA4225512	441	L>R		No	ClinGen ExAC TOPMed gnomAD
rs1267673472 CA367281378	442	A>T		No	ClinGen TOPMed gnomAD
rs1584062267 CA367281346	444	V>A		No	ClinGen Ensembl
CA367281336 rs1562739584	445	T>K		No	ClinGen Ensembl
rs757550847 CA4225510	445	T>P		No	ClinGen ExAC gnomAD
rs1441744902 CA367281301	447	A>V		No	ClinGen gnomAD
CA4225506 rs373071104	448	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1584062211 CA367281251	451	D>N		No	ClinGen Ensembl
rs140860940 CA4225505	453	G>E		No	ClinGen ESP ExAC gnomAD
rs1447805665 CA367281198	454	M>T		No	ClinGen TOPMed
rs1258822375 CA367281207	454	M>V		No	ClinGen TOPMed gnomAD
CA367281180 rs1199112654	455	D>V		No	ClinGen gnomAD
CA367281174 rs1483153935	456	T>A		No	ClinGen TOPMed gnomAD
TCGA novel	456	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4225502 rs771596953	457	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs201059599 CA4225503	457	R>W		No	ClinGen ExAC TOPMed gnomAD
rs761580305 CA4225501	460	E>K		No	ClinGen ExAC gnomAD
rs1341030537 CA367281109	462	V>M		No	ClinGen gnomAD
TCGA novel	463	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759911669 CA157209735	464	E>A		No	ClinGen Ensembl
CA4225499 rs768373657	465	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	465	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1298578737 CA367281060	466	V>G		No	ClinGen gnomAD
rs1389724934 CA367292845	467	I>F		No	ClinGen TOPMed
CA4225477 rs776438912	467	I>T		No	ClinGen ExAC gnomAD
rs969901002 CA157219197	468	I>V		No	ClinGen Ensembl
CA367292831 rs1268918230	469	P>H		No	ClinGen gnomAD
CA367292830 rs1268918230	469	P>L		No	ClinGen gnomAD
rs1023706899 CA157219191	470	G>R		No	ClinGen Ensembl
CA367292824 rs1207484675	471	A>T		No	ClinGen gnomAD
rs115462490 CA4225476	473	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1385058480 CA367292800	474	D>E		No	ClinGen TOPMed
CA157219172 rs960856901	474	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs747112662 CA367292794	475	A>G		No	ClinGen ExAC gnomAD
rs1220367001 CA367292797	475	A>T		No	ClinGen gnomAD
CA4225475 rs747112662	475	A>V		No	ClinGen ExAC gnomAD
rs1269368587 CA367292790	476	A>D		No	ClinGen gnomAD
rs369724143 CA4225474	477	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1332990833 CA367292777	478	G>V		No	ClinGen gnomAD
rs1321677418 CA367292771	479	T>I		No	ClinGen gnomAD
rs1401696003 CA367292746	483	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA4225473 RCV000906272 rs73348825	484	A>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4225472 rs748496739 COSM387751	485	E>D	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA367292723 rs1235790854	487	A>G		No	ClinGen TOPMed
CA157219161 rs371720416	488	P>T		No	ClinGen ESP TOPMed
rs779630927 CA157219157	489	G>R		No	ClinGen Ensembl
CA157219152 rs1049179766	491	E>K		No	ClinGen TOPMed gnomAD
CA4225469 rs754303145	493	E>G		No	ClinGen ExAC gnomAD
CA367292679 rs766808058	494	A>G		No	ClinGen ExAC TOPMed gnomAD
COSM292289 rs766808058 CA4225468	494	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
VAR_053006 CA4225466 rs35024632	496	K>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA367292656 rs1469891829	498	T>A		No	ClinGen TOPMed
rs147689642 CA4225465	499	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA367292651 rs147689642	499	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA157219142 rs375211709	500	P>A		No	ClinGen ESP TOPMed gnomAD
CA367292643 rs1377795606	500	P>R		No	ClinGen gnomAD
CA4225461 COSM1549904 rs759265550	502	G>R	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA367292627 rs1164154160	503	E>A		No	ClinGen TOPMed
rs1456162678 CA367292630	503	E>K		No	ClinGen TOPMed
TCGA novel rs764644221	503	E>K	Variant assessed as Somatic; impact. Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	505	V>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1584032270 CA367292610	506	S>C		No	ClinGen Ensembl
rs1584032265 CA367292606	506	S>T		No	ClinGen Ensembl
rs770809668 CA4225458	507	L>I		No	ClinGen ExAC TOPMed gnomAD
rs760810044 CA4225457	509	E>K		No	ClinGen ExAC TOPMed gnomAD
rs574824661 CA157219129	510	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs778203010 CA4225455	515	E>D		No	ClinGen ExAC TOPMed gnomAD
CA157219127 rs868075632	516	T>I		No	ClinGen Ensembl
rs1297230588 CA367292533	517	T>I		No	ClinGen TOPMed
TCGA novel	519	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA157219102 rs935875007	519	G>V		No	ClinGen gnomAD
rs1274362380 CA367292513	520	A>G		No	ClinGen TOPMed
CA157219098 rs925841682	520	A>T		No	ClinGen TOPMed
CA367292503 rs1443979345	522	S>G		No	ClinGen TOPMed gnomAD
rs769006294 CA4225452	524	Q>R		No	ClinGen ExAC gnomAD
CA4225450 rs780570325	526	E>D		No	ClinGen ExAC gnomAD
rs1301073031 CA367292419	530	L>F		No	ClinGen TOPMed gnomAD
COSM3431584 CA4225448 rs367689186	531	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA4225449 rs367689186	531	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA157219079 rs372103091	533	T>S		No	ClinGen ESP TOPMed gnomAD
CA367292378 rs1450777169	534	V>L		No	ClinGen gnomAD
rs965020082 CA157219078	536	Q>*		No	ClinGen TOPMed
rs1265019164 CA367291774	537	E>K		No	ClinGen gnomAD
TCGA novel	538	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4225428 rs746308598	539	V>D		No	ClinGen ExAC gnomAD
rs781674313 CA4225427	541	P>L		No	ClinGen ExAC gnomAD
CA4225426 rs757857975	542	S>L		No	ClinGen ExAC TOPMed gnomAD
rs752182613 CA4225425	543	V>E		No	ClinGen ExAC gnomAD
CA4225424 rs200653835	545	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4225423 rs200653835	545	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1257054366 CA367291618	546	E>Q		No	ClinGen TOPMed gnomAD
CA367291601 rs1380232465	547	P>S		No	ClinGen gnomAD
CA157218131 rs1040618691	548	A>G		No	ClinGen TOPMed
CA4225422 rs753650937	548	A>T		No	ClinGen ExAC TOPMed gnomAD
CA367291573 rs1487482886	549	S>Y		No	ClinGen TOPMed
TCGA novel	551	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1391621108 CA367291547	551	H>R		No	ClinGen gnomAD
rs750325763 CA4225419	553	E>G		No	ClinGen ExAC gnomAD
CA4225418 rs767583066	554	E>D		No	ClinGen ExAC TOPMed gnomAD
rs555399483 CA4225417	556	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA4225416 rs764354748	557	N>K		No	ClinGen ExAC gnomAD
CA4225413 rs372537853	558	E>*		No	ClinGen ESP ExAC gnomAD
CA367291466 rs770087957	558	E>D		No	ClinGen ExAC gnomAD
COSM138613 rs372537853 CA4225414	558	E>K	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD
CA4225411 rs746255256	559	I>K		No	ClinGen ExAC gnomAD
CA157218092 rs775256845	559	I>L		No	ClinGen Ensembl
CA4225410 rs777086329	560	T>I		No	ClinGen ExAC gnomAD
CA367291446 rs777086329	560	T>N		No	ClinGen ExAC gnomAD
CA367291443 rs1161595313	561	I>V		No	ClinGen TOPMed
rs1562722039 CA367291430	562	G>C		No	ClinGen Ensembl
CA367291421 rs1256578835	563	A>T		No	ClinGen gnomAD
CA367291389 rs1227070067	566	K>E		No	ClinGen gnomAD
CA367291372 rs1296265137	567	E>G		No	ClinGen gnomAD
rs778340619 CA4225407	568	T>I		No	ClinGen ExAC gnomAD
rs747675365 CA4225408	568	T>S		No	ClinGen ExAC gnomAD
CA157218074 rs929702641	570	E>D		No	ClinGen TOPMed gnomAD
CA4225405 COSM1742754 rs748822925	570	E>K	biliary_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs144661060 CA367291321	572	A>P		No	ClinGen ESP TOPMed gnomAD
rs144661060 CA157218071	572	A>T		No	ClinGen ESP TOPMed gnomAD
rs1341123866 COSM1488539 CA367291315	572	A>V	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1461251500 CA367291311	573	A>T		No	ClinGen gnomAD
rs1354995443 CA367291296	574	P>L		No	ClinGen TOPMed
CA367291300 rs1281965723	574	P>S		No	ClinGen TOPMed
rs372460888 CA4225403	575	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	575	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1178556773 CA367291277	576	G>V		No	ClinGen gnomAD
rs750272675 CA367291248	579	S>I		No	ClinGen ExAC gnomAD
rs750272675 CA4225402	579	S>T		No	ClinGen ExAC gnomAD
rs767529926 CA4225401	580	E>K		No	ClinGen ExAC gnomAD
TCGA novel	580	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs139940640 CA4225400	581	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA4225398 rs764013614	582	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs764013614 CA367291220	582	P>R		No	ClinGen ExAC TOPMed gnomAD
CA4225399 rs751656285	582	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs751656285 CA367291224	582	P>T		No	ClinGen ExAC gnomAD
CA367291212 rs1473134719	583	E>A		No	ClinGen TOPMed
rs1212644109 CA367291199	584	L>P		No	ClinGen gnomAD
rs1345218445 CA367291196	585	A>T		No	ClinGen gnomAD
CA4225393 rs142938499 RCV000883077	586	T>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs773769228 CA4225390	588	Q>R		No	ClinGen ExAC gnomAD
CA367291131 rs1419316426	590	P>L		No	ClinGen TOPMed
rs767991097 CA4225389	591	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1562721753 CA367291114	593	D>Y		No	ClinGen Ensembl
rs1304355821 CA367291107	594	P>S		No	ClinGen gnomAD
rs138437054 CA367291099	595	Q>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs138437054 CA4225387	595	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	597	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA367291089 rs1584028721	597	T>P		No	ClinGen Ensembl
TCGA novel	599	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1181799658 CA367291077	599	S>T		No	ClinGen TOPMed gnomAD
CA4225382 rs745635746	599	S>Y		No	ClinGen ExAC gnomAD
rs953933521 CA157217948	600	A>P		No	ClinGen TOPMed gnomAD
rs953933521 CA157217958	600	A>T		No	ClinGen TOPMed gnomAD
rs1484502956 CA367291066	601	P>S		No	ClinGen gnomAD
rs1012193424 CA157217943	603	M>I		No	ClinGen Ensembl
CA367291052 rs1279102063	603	M>T		No	ClinGen gnomAD
rs764115727 COSM3778424 CA4225377	607	D>G	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed
rs752817299 CA4225375	608	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA367290991 rs1340931972	608	Q>R		No	ClinGen gnomAD
TCGA novel	612	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA367290949 rs1584028607	612	A>V		No	ClinGen Ensembl
rs138082297 CA4225373	614	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA367290918 rs1236411397	615	A>D		No	ClinGen TOPMed
rs754193962 CA4225372	616	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA367290900 rs766581511	617	Q>P		No	ClinGen ExAC gnomAD
CA4225371 rs766581511	617	Q>R		No	ClinGen ExAC gnomAD
rs780392713 CA4225370	619	L>V		No	ClinGen ExAC gnomAD
CA367290858 rs1380712286	620	P>R		No	ClinGen TOPMed
CA4225369 rs183053116	620	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4225368 rs772663774	621	P>L		No	ClinGen ExAC gnomAD
rs1458866835 CA367290791	626	K>E		No	ClinGen gnomAD
rs1476193041	627	V>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA4225351 rs750837865	628	E>G		No	ClinGen ExAC gnomAD
CA157217066 rs964117064	633	F>L		No	ClinGen TOPMed
rs1562720405 CA367289837	633	F>S		No	ClinGen Ensembl
rs377538910 CA4225350	635	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs762466435 CA4225349	636	A>P		No	ClinGen ExAC TOPMed gnomAD
rs1254303502 CA367289780	637	N>S		No	ClinGen gnomAD
TCGA novel	638	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA367289735 rs1211800333	639	D>E		No	ClinGen gnomAD
CA157217058 rs200109991	640	E>K		No	ClinGen Ensembl
rs775135384 CA4225348	642	T>I		No	ClinGen ExAC gnomAD
rs1258466569 CA367289645	645	R>M		No	ClinGen gnomAD
rs1216062938 CA367289637	646	G>S		No	ClinGen TOPMed gnomAD
CA157217053 rs867571728	646	G>V		No	ClinGen Ensembl
CA367289603 rs1172323607	648	V>L		No	ClinGen TOPMed
TCGA novel	649	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4225345 rs776108511	653	P>L		No	ClinGen ExAC gnomAD
rs1373370384 CA367289333	659	D>Y		No	ClinGen gnomAD
CA4225343 rs746760641	660	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs746760641 CA367289319	660	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1366899987 CA367289305	660	Q>P		No	ClinGen TOPMed
CA4225329 rs372846915	661	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs941969479 CA157214993	661	D>N		No	ClinGen TOPMed gnomAD
CA157214966 rs955822500	663	G>D		No	ClinGen TOPMed
rs765936626 CA4225326	666	V>G		No	ClinGen ExAC gnomAD
rs776256855 COSM601143 CA4225327	666	V>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs760445860 CA4225325	675	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4225324 rs147019216	675	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs968229836 CA157214946	679	L>F		No	ClinGen TOPMed gnomAD
rs1030521865 CA367288482	681	T>N		No	ClinGen TOPMed
rs1030521865 CA157214943	681	T>S		No	ClinGen TOPMed
CA367288477 rs1408034829	682	Y>D		No	ClinGen gnomAD
rs774229014 CA4225321	683	K>Q		No	ClinGen ExAC gnomAD
CA4225320 rs768617715	683	K>R		No	ClinGen ExAC gnomAD
rs780237235 CA4225318	684	G>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs780237235 CA4225319	684	G>D		No	ClinGen ExAC TOPMed gnomAD
CA4225317 rs756285958	685	L>F		No	ClinGen ExAC gnomAD
rs746035552 CA4225316	686	F>Y		No	ClinGen ExAC gnomAD
rs781587480 CA4225315	687	P>L		No	ClinGen ExAC TOPMed gnomAD
CA4225313 rs746689644	692	R>*		No	ClinGen ExAC TOPMed gnomAD
rs746689644 CA367288367	692	R>G		No	ClinGen ExAC TOPMed gnomAD
CA4225312 rs764677540	692	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM453020 rs147817118 CA4225311	693	R>C	haematopoietic_and_lymphoid_tissue breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs758026337 CA4225310	693	R>H		No	ClinGen ExAC TOPMed gnomAD
rs758026337 CA157214908	693	R>P		No	ClinGen ExAC TOPMed gnomAD
CA4225309 rs765852492	694	L>F		No	ClinGen ExAC gnomAD

No associated diseases with P49418

3 regional properties for P49418

Type	Name	Position	InterPro Accession
domain	SH3 domain	622 - 695	IPR001452
domain	BAR domain	12 - 240	IPR004148
domain	Amphiphysin I, SH3 domain	623 - 694	IPR035470

Functions

		Description
EC Number
Subcellular Localization	Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Peripheral membrane protein; Cytoplasmic side Cytoplasm, cytoskeleton
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
actin cytoskeleton	The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes.
anchoring junction	A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
leading edge membrane	The portion of the plasma membrane surrounding the leading edge of a motile cell.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
synaptic vesicle	A secretory organelle, typically 50 nm in diameter, of presynaptic nerve terminals; accumulates in high concentrations of neurotransmitters and secretes these into the synaptic cleft by fusion with the 'active zone' of the presynaptic plasma membrane.
synaptic vesicle membrane	The lipid bilayer surrounding a synaptic vesicle.

1 GO annotations of molecular function

Name	Definition
phospholipid binding	Binding to a phospholipid, a class of lipids containing phosphoric acid as a mono- or diester.

3 GO annotations of biological process

Name	Definition
chemical synaptic transmission	The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse.
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.
synaptic vesicle endocytosis	A vesicle-mediated transport process, in which the synaptic vesicle membrane constituents are retrieved from the presynaptic membrane on the axon terminal after neurotransmitter secretion by exocytosis. Synaptic vesicle endocytosis can occur via clathrin-dependent and clathrin-independent mechanisms.

7 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P50478	AMPH	Amphiphysin	Gallus gallus (Chicken)	PR
Q9UBW5	BIN2	Bridging integrator 2	Homo sapiens (Human)	PR
O00499	BIN1	Myc box-dependent-interacting protein 1	Homo sapiens (Human)	PR
O08539	Bin1	Myc box-dependent-interacting protein 1	Mus musculus (Mouse)	PR
Q7TQF7	Amph	Amphiphysin	Mus musculus (Mouse)	PR
O08839	Bin1	Myc box-dependent-interacting protein 1	Rattus norvegicus (Rat)	PR
O08838	Amph	Amphiphysin	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MADIKTGIFA	KNVQKRLNRA	QEKVLQKLGK	ADETKDEQFE	EYVQNFKRQE	AEGTRLQREL
70	80	90	100	110	120
RGYLAAIKGM	QEASMKLTES	LHEVYEPDWY	GREDVKMVGE	KCDVLWEDFH	QKLVDGSLLT
130	140	150	160	170	180
LDTYLGQFPD	IKNRIAKRSR	KLVDYDSARH	HLEALQSSKR	KDESRISKAE	EEFQKAQKVF
190	200	210	220	230	240
EEFNVDLQEE	LPSLWSRRVG	FYVNTFKNVS	SLEAKFHKEI	AVLCHKLYEV	MTKLGDQHAD
250	260	270	280	290	300
KAFTIQGAPS	DSGPLRIAKT	PSPPEEPSPL	PSPTASPNHT	LAPASPAPAR	PRSPSQTRKG
310	320	330	340	350	360
PPVPPLPKVT	PTKELQQENI	ISFFEDNFVP	EISVTTPSQN	EVPEVKKEET	LLDLDFDPFK
370	380	390	400	410	420
PEVTPAGSAG	VTHSPMSQTL	PWDLWTTSTD	LVQPASGGSF	NGFTQPQDTS	LFTMQTDQSM
430	440	450	460	470	480
ICNLAESEQA	PPTEPKAEEP	LAAVTPAVGL	DLGMDTRAEE	PVEEAVIIPG	ADADAAVGTL
490	500	510	520	530	540
VSAAEGAPGE	EAEAEKATVP	AGEGVSLEEA	KIGTETTEGA	ESAQPEAEEL	EATVPQEKVI
550	560	570	580	590	600
PSVVIEPASN	HEEEGENEIT	IGAEPKETTE	DAAPPGPTSE	TPELATEQKP	IQDPQPTPSA
610	620	630	640	650	660
PAMGAADQLA	SAREASQELP	PGFLYKVETL	HDFEAANSDE	LTLQRGDVVL	VVPSDSEADQ
670	680	690
DAGWLVGVKE	SDWLQYRDLA	TYKGLFPENF	TRRLD