AiPD: Autoinhibited Protein Database

P30622

Gene name	CLIP1 (CYLN1, RSN)
Protein name	CAP-Gly domain-containing linker protein 1
Names	Cytoplasmic linker protein 1, Cytoplasmic linker protein 170 alpha-2, CLIP-170, Reed-Sternberg intermediate filament-associated protein, Restin
Species	Homo sapiens (Human)
KEGG Pathway	hsa:6249
EC number
Protein Class	DYNACTIN 1-RELATED MICROTUBULE-BINDING (PTHR18916)

Descriptions

Cytoplasmic linker protein (CLIP-170 or CLIP1) is a prototype of the plus end-tracking proteins that regulate microtubule dynamics. The CAP-Gly-2 domain possesses a basic groove and directly binds the EExEEY/F motif of the C-terminal acidic-tail ends of α-tubulin. The C-terminal zinc knuckle domains of CLIP-170 bind the basic groove to inhibit the binding to the acidic tails of α-tubulin. Once CLIP-170 binds microtubule, the released zinc knuckle domain may serve to recruit dynein to the plus end by interacting with the dynactin subunit p150Glued and LIS1.

Autoinhibitory domains (AIDs)

Target domain	203-300 (CAP-Gly-2 domain)
Relief mechanism	Others
Assay	Mutagenesis experiment, Peptide inhibitor test, Structural analysis

AID

1376-1432 (C-terminal zinc knuckle domains)

Target domain

203-300 (CAP-Gly-2 domain)

Relief mechanism

Others (Binding of CLIP-170 to microtubules)

Assay

Mutagenesis experiment, Peptide inhibitor test, Structural analysis

Accessory elements

No accessory elements

References

Mishima M et al. (2007) "Structural basis for tubulin recognition by cytoplasmic linker protein 170 and its autoinhibition", Proceedings of the National Academy of Sciences of the United States of America, 104, 10346-51

Autoinhibited structure

Activated structure

10 structures for P30622

Entry ID	Method	Resolution	Chain	Position	Source
2CP5	NMR	-	A	1-128	PDB
2CP6	NMR	-	A	181-339	PDB
2E3H	X-ray	145 A	A	211-300	PDB
2E3I	X-ray	200 A	A	56-141	PDB
2E4H	NMR	-	A	203-300	PDB
2HQH	X-ray	180 A	E/F/G/H	1416-1438	PDB
2QK0	X-ray	200 A	A	57-128	PDB
3E2U	X-ray	260 A	E/F/G/H	1399-1438	PDB
3RDV	X-ray	175 A	A/B/C/D	56-127	PDB
AF-P30622-F1	Predicted				AlphaFoldDB

948 variants for P30622

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs374978178 CA6844830 RCV001256135	1373	K>R	Global developmental delay [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
CA6846029 rs140092191 RCV000504038	3	M>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA244730766 rs989188932	4	L>P		No	ClinGen Ensembl
rs957708229 CA244730759	6	P>S		No	ClinGen gnomAD
rs1434072188 CA387036000	7	S>G		No	ClinGen gnomAD
CA6846027 rs752618367	9	L>F		No	ClinGen ExAC TOPMed gnomAD
CA387035969 rs1373461531	11	A>V		No	ClinGen gnomAD
rs765245725 CA6846026	12	P>S		No	ClinGen ExAC gnomAD
CA6846025 rs759464386	13	T>I		No	ClinGen ExAC gnomAD
CA387035957 rs1305408759	14	K>E		No	ClinGen gnomAD
CA244730723 rs372098284	15	I>M		No	ClinGen ESP TOPMed gnomAD
CA387035937 rs1555278021	17	K>Q		No	ClinGen Ensembl
CA6846021 rs772804813	25	T>A		No	ClinGen ExAC gnomAD
rs34292795 CA6846019	27	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374190792 CA6846002	30	V>A		No	ClinGen ESP ExAC gnomAD
CA387035266 rs1188144751	32	P>A		No	ClinGen TOPMed gnomAD
CA387035264 rs1188144751	32	P>S		No	ClinGen TOPMed gnomAD
rs767180805 CA6846001	33	V>I		No	ClinGen ExAC gnomAD
rs770296462 CA6845997	36	T>I		No	ClinGen ExAC TOPMed
CA244729472 rs770296462	36	T>N		No	ClinGen ExAC TOPMed
CA6845998 rs770296462	36	T>S		No	ClinGen ExAC TOPMed
CA6845995 rs759987329	37	I>T		No	ClinGen ExAC gnomAD
rs1263331700 CA387035187	39	S>G		No	ClinGen gnomAD
CA387035173 rs1244170978	40	E>Q		No	ClinGen TOPMed
rs375432380 CA244729460	42	A>E		No	ClinGen ExAC TOPMed gnomAD
CA6845993 rs771241137	42	A>P		No	ClinGen ExAC TOPMed gnomAD
CA387035148 rs771241137	42	A>T		No	ClinGen ExAC TOPMed gnomAD
rs375432380 CA6845992	42	A>V		No	ClinGen ExAC TOPMed gnomAD
rs772335291 CA6845990	44	S>G		No	ClinGen ExAC gnomAD
rs11057808 CA244729419	45	T>S		No	ClinGen Ensembl
CA387035093 rs1566195626	47	S>P		No	ClinGen Ensembl
rs1181479877 CA387035079	48	S>Y		No	ClinGen TOPMed
CA387035054 rs1449983319	50	T>I		No	ClinGen TOPMed
rs911902975 CA244729386	52	E>D		No	ClinGen Ensembl
rs946137299 CA244729391	52	E>K		No	ClinGen gnomAD
rs1469498491 CA387035035	52	E>V		No	ClinGen gnomAD
rs1375714257 CA387035009	54	F>S		No	ClinGen gnomAD
CA387034989 rs1172315407	56	D>G		No	ClinGen gnomAD
rs1167930175 CA387034974	58	F>Y		No	ClinGen TOPMed
CA6845985 rs755915925	59	R>*		No	ClinGen ExAC gnomAD
rs755915925 CA6845984	59	R>G		No	ClinGen ExAC gnomAD
CA6845983 rs750226183	59	R>Q		No	ClinGen ExAC
CA6845981 rs761395847	60	V>F		No	ClinGen ExAC TOPMed gnomAD
CA387034963 rs1415740021	60	V>G		No	ClinGen TOPMed
CA387034959 rs1462214580	61	G>E		No	ClinGen TOPMed gnomAD
CA244729380 rs987429426	63	R>Q		No	ClinGen gnomAD
rs763554617 CA6845979	66	V>L		No	ClinGen ExAC gnomAD
CA387034915 rs1230140758	68	G>R		No	ClinGen gnomAD
rs777172335 CA6845977	78	G>R		No	ClinGen ExAC gnomAD
rs1419623714 CA387034804	83	A>V		No	ClinGen Ensembl
rs1366422402 CA387034790	86	Q>E		No	ClinGen TOPMed
CA6845975 rs761014360	86	Q>R		No	ClinGen ExAC gnomAD
rs532751950 CA6845974	88	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1400390845 CA387034763	90	I>V		No	ClinGen gnomAD
CA6845973 rs772199924	91	V>I		No	ClinGen ExAC gnomAD
rs779169334 CA6845971	93	D>E		No	ClinGen ExAC gnomAD
CA6845970 rs768901167	94	E>G		No	ClinGen ExAC gnomAD
COSM1188640 rs779918075 CA6845968	95	P>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA6845969 rs202071559	95	P>S		No	ClinGen 1000Genomes ExAC
CA387034698 rs1440316579	100	D>N		No	ClinGen TOPMed gnomAD
rs780989679 CA6845965	102	S>L		No	ClinGen ExAC TOPMed gnomAD
CA387034656 rs1593198904	106	V>G		No	ClinGen Ensembl
CA6845962 rs763715429	107	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs376121667 CA6845960	108	Y>H		No	ClinGen ESP ExAC gnomAD
rs1269753797 CA387034586	113	P>T		No	ClinGen TOPMed
CA387034538 rs1245271153	116	G>A		No	ClinGen gnomAD
rs761189727 CA6845958	117	I>V		No	ClinGen ExAC gnomAD
CA6845957 rs773474155	119	T>N		No	ClinGen ExAC gnomAD
CA387034490 rs1465233305	120	R>Q		No	ClinGen TOPMed
rs1015081775 CA244729313	121	P>S		No	ClinGen TOPMed gnomAD
CA6845955 rs762241206	123	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1555277122 CA387034392	128	V>A		No	ClinGen Ensembl
rs774769309 CA387034397	128	V>L		No	ClinGen ExAC gnomAD
rs774769309 CA6845954	128	V>M		No	ClinGen ExAC gnomAD
CA6845952 rs371441214	132	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs775578569 CA6845951	133	E>G		No	ClinGen ExAC gnomAD
rs769639296 CA6845950	135	N>S		No	ClinGen ExAC TOPMed gnomAD
CA6845949 rs563436852	137	L>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1161006123 CA387034272	139	T>A		No	ClinGen TOPMed
rs1456988916 CA387034256	140	T>A		No	ClinGen TOPMed
rs143601911 CA6845947	140	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1456988916 CA387034258	140	T>P		No	ClinGen TOPMed
CA387034242 rs1293084214	141	P>R		No	ClinGen gnomAD
rs746794805 CA6845946	142	A>T		No	ClinGen ExAC TOPMed gnomAD
rs138030919 RCV000500519 CA6845945	142	A>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1367214585 CA387034220	143	S>F		No	ClinGen gnomAD
RCV000736141 CA244729290 rs984649575	144	R>*		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA244729288 rs146947032	144	R>Q		No	ClinGen ESP gnomAD
CA6845942 rs764758567	145	A>G		No	ClinGen ExAC gnomAD
CA6845943 rs752164276	145	A>T		No	ClinGen ExAC gnomAD
CA387034170 rs1302399387	148	P>L		No	ClinGen TOPMed gnomAD
rs750984366 CA6845940	151	T>A		No	ClinGen ExAC gnomAD
rs1452571586 CA387034134	151	T>I		No	ClinGen TOPMed gnomAD
rs1409246321 CA387034124	152	S>F		No	ClinGen gnomAD
CA6845938 rs762331351	153	T>A		No	ClinGen ExAC TOPMed gnomAD
rs774785991 CA6845937 RCV000503293	153	T>M		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs376149636 CA6845934	154	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1566194546 CA387034096	155	S>G		No	ClinGen Ensembl
CA387034073 rs1246822506	156	M>I		No	ClinGen TOPMed gnomAD
rs974492801 CA244729235	157	V>A		No	ClinGen TOPMed gnomAD
rs974492801 CA387034059	157	V>G		No	ClinGen TOPMed gnomAD
CA387034067 rs1479201417	157	V>M		No	ClinGen TOPMed
CA387034046 rs1593198395	159	S>P		No	ClinGen Ensembl
CA387034034 rs1593198391	160	S>P		No	ClinGen Ensembl
rs769955799 CA6845933	161	P>H		No	ClinGen ExAC TOPMed gnomAD
rs769955799 CA387034018	161	P>L		No	ClinGen ExAC TOPMed gnomAD
rs769955799 CA387034020	161	P>R		No	ClinGen ExAC TOPMed gnomAD
VAR_059206 rs7963597 CA244729210	162	S>P		No	ClinGen UniProt Ensembl dbSNP
CA244729198 rs1018583414	163	T>P		No	ClinGen TOPMed
CA6845931 rs776607867	164	P>L		No	ClinGen ExAC gnomAD
rs1008856288 CA244729187	166	N>D		No	ClinGen TOPMed
CA387033951 rs1593198298	167	I>T		No	ClinGen Ensembl
rs1593198274 CA387033914	170	K>N		No	ClinGen Ensembl
rs770852169 CA6845930	171	P>L		No	ClinGen ExAC TOPMed gnomAD
rs199943047 CA244729175	172	S>P		No	ClinGen Ensembl
CA244729154 rs1034284350	175	A>E		No	ClinGen TOPMed
CA387033865 rs1434211171	176	A>G		No	ClinGen gnomAD
CA6845929 rs746813209	177	K>R		No	ClinGen ExAC TOPMed gnomAD
CA387033851 rs1593198199 COSM936228	178	E>D	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
rs539818652 CA244729150	178	E>K		No	ClinGen Ensembl
CA6845927 rs373177135	179	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA6845928 rs373177135	179	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA387033849 rs373177135	179	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1277537270 CA387033835	181	A>G		No	ClinGen TOPMed
CA387033830 rs199567350	182	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6845926 rs199567350	182	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA387033824 rs1178068956	183	P>A		No	ClinGen gnomAD
CA244729144 rs369229613	183	P>L		No	ClinGen ESP TOPMed
CA6845925 rs113784516	184	P>L		No	ClinGen ExAC TOPMed gnomAD
rs113784516 CA387033815	184	P>R		No	ClinGen ExAC TOPMed gnomAD
rs753278656 CA387033798	186	S>I		No	ClinGen ExAC gnomAD
rs753278656 CA6845923	186	S>T		No	ClinGen ExAC gnomAD
rs768139374 CA6845922	189	T>A		No	ClinGen ExAC gnomAD
rs76958530 CA387033765	189	T>I		No	ClinGen ExAC gnomAD
CA6845921 rs76958530	189	T>K		No	ClinGen ExAC gnomAD
CA387033750 rs1593197998	191	T>P		No	ClinGen Ensembl
CA387033733 rs1555276959	193	S>R		No	ClinGen Ensembl
CA6845920 rs751992257	194	E>A		No	ClinGen ExAC TOPMed gnomAD
CA387033713 rs764511753	194	E>D		No	ClinGen ExAC TOPMed gnomAD
CA6845918 rs763195749	196	I>V		No	ClinGen ExAC gnomAD
rs753011387 CA6845917	197	S>Y		No	ClinGen ExAC gnomAD
CA6845916 rs200771318	198	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA244729127 rs200771318	198	N>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1566194094 CA387033671	199	L>I		No	ClinGen Ensembl
CA6845914 RCV000882800 rs140634925	202	A>P		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs140634925 CA6845915	202	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1227588735 CA387033637	203	G>S		No	ClinGen gnomAD
CA244729105 rs937422446	207	K>T		No	ClinGen TOPMed
CA244729101 rs377212401	208	G>R		No	ClinGen ESP gnomAD
CA387033554 rs1432208175	211	E>K		No	ClinGen TOPMed
CA387033521 rs1331817557	214	I>L		No	ClinGen gnomAD
CA244729097 rs373032454	214	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs771944895 CA6845910	215	G>R		No	ClinGen ExAC gnomAD
rs748907267 CA6845888	222	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1253502859 CA387044013	223	T>S		No	ClinGen gnomAD
rs779820660 CA6845887	226	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1225111634 CA387043970	227	V>I		No	ClinGen gnomAD
CA6845885 rs146871885	229	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs958782845 CA244741942	229	R>W		No	ClinGen Ensembl
CA6845883 rs758764782	234	T>S		No	ClinGen ExAC TOPMed gnomAD
rs754102187 CA6845879	239	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1020981168 CA244741904	241	W>G		No	ClinGen Ensembl
CA6845874 rs761603152	244	V>L		No	ClinGen ExAC TOPMed gnomAD
rs761603152 CA244741887	244	V>M		No	ClinGen ExAC TOPMed gnomAD
CA387043708 rs1200045691	256	A>T		No	ClinGen gnomAD
rs1488156154 CA387043702	257	V>I		No	ClinGen gnomAD
rs1318141514 CA387043695	258	A>T		No	ClinGen TOPMed
rs372196407 CA6845872	259	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs763833495 CA6845871	260	T>A		No	ClinGen ExAC gnomAD
rs1244655708 CA387043410	264	Q>H		No	ClinGen TOPMed gnomAD
rs764995960 CA6845848	264	Q>K		No	ClinGen ExAC gnomAD
CA387043404 rs1365991920	265	C>S		No	ClinGen gnomAD
rs759217159 CA387043389	267	P>H		No	ClinGen ExAC TOPMed gnomAD
rs759217159 CA6845847	267	P>L		No	ClinGen ExAC TOPMed gnomAD
CA6845844 rs79909185	271	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200973285 CA6845840	272	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6845843 rs566199507	272	F>L		No	ClinGen 1000Genomes ExAC gnomAD
rs200973285 CA6845841	272	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1555272706 CA6845832	273	A>D		No	ClinGen Ensembl
rs1555272706 CA6845830	273	A>G		No	ClinGen Ensembl
CA6845834 rs1375747027	273	A>P		No	ClinGen TOPMed gnomAD
rs1375747027 CA6845835	273	A>S		No	ClinGen TOPMed gnomAD
CA6845836 rs1375747027	273	A>T		No	ClinGen TOPMed gnomAD
rs1555272706 CA6845831	273	A>V		No	ClinGen Ensembl
rs751652682 CA6845824	274	P>A		No	ClinGen ExAC
CA6845822 rs758396699	274	P>H		No	ClinGen ExAC
CA6845823 rs758396699	274	P>L		No	ClinGen ExAC
rs751652682 CA6845825	274	P>S		No	ClinGen ExAC
CA6845826 rs751652682	274	P>T		No	ClinGen ExAC
CA387043351 rs1555272671	275	V>A		No	ClinGen Ensembl
rs759362607 CA6845815	275	V>F		No	ClinGen ExAC
CA6845813 rs1555272671	275	V>G		No	ClinGen Ensembl
rs759362607 CA6845817	275	V>I		No	ClinGen ExAC
rs759362607 CA6845816	275	V>L		No	ClinGen ExAC
rs769204442 CA6845808	276	H>L		No	ClinGen ExAC gnomAD
CA6845809 rs760103598	276	H>N		No	ClinGen ExAC
CA6845807 rs769204442	276	H>P		No	ClinGen ExAC gnomAD
CA6845806 rs763423666	277	K>Q		No	ClinGen ExAC
CA6845803 rs1555272643	278	V>A		No	ClinGen Ensembl
CA6845802 rs1555272643	278	V>D		No	ClinGen Ensembl
rs775939633 CA6845805	278	V>I		No	ClinGen ExAC
CA6845800 rs746187424	279	T>N		No	ClinGen ExAC
CA387043334 rs770169425	279	T>P		No	ClinGen ExAC
CA6845801 rs770169425	279	T>S		No	ClinGen ExAC
rs781277446 CA6845799	280	K>Q		No	ClinGen ExAC
CA387043320 rs1322749098	281	I>T		No	ClinGen TOPMed
CA387043314 rs1483100801	282	G>A		No	ClinGen gnomAD
rs138585329 CA6845795	282	G>C		No	ClinGen 1000Genomes ExAC gnomAD
CA6845794 rs138585329	282	G>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1483100801 CA387043313	282	G>V		No	ClinGen gnomAD
rs1593162236 CA387043307	283	F>S		No	ClinGen Ensembl
CA244739654 rs930512802	285	S>F		No	ClinGen TOPMed gnomAD
rs752711629 CA387043293	286	T>A		No	ClinGen ExAC gnomAD
rs752711629 CA6845781	286	T>P		No	ClinGen ExAC gnomAD
rs778944203 CA6845780	287	T>P		No	ClinGen ExAC
rs1214436019 CA387043279	288	P>R		No	ClinGen TOPMed
CA387043263 rs1226196535	291	A>T		No	ClinGen gnomAD
CA244739641 rs374792459	292	K>E		No	ClinGen ESP TOPMed
rs111985493 CA6845776	294	N>K		No	ClinGen ExAC TOPMed gnomAD
rs372226494 CA6845778	294	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs749979444 CA6845775	295	A>S		No	ClinGen ExAC gnomAD
CA387043238 rs749979444	295	A>T		No	ClinGen ExAC gnomAD
rs199669743 CA6845774	295	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs761266925 CA6845773	298	R>Q		No	ClinGen ExAC gnomAD
rs775992825 CA6845772	299	V>A		No	ClinGen ExAC TOPMed gnomAD
rs775992825 CA387043213	299	V>G		No	ClinGen ExAC TOPMed gnomAD
CA387043216 COSM1492791 rs1268559199	299	V>L	kidney [Cosmic]	No	ClinGen cosmic curated TOPMed
rs770220825 CA6845771	300	M>L		No	ClinGen ExAC gnomAD
CA6845770 rs759886553	300	M>T		No	ClinGen ExAC TOPMed gnomAD
COSM1195604 rs777041077 CA6845769	301	A>T	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA244739605 rs142895880	301	A>V		No	ClinGen ESP TOPMed gnomAD
CA6845767 rs199963087	303	T>M		No	ClinGen ExAC gnomAD
rs1593161972 CA387043194	303	T>P		No	ClinGen Ensembl
CA387043188 rs1593161934	304	S>P		No	ClinGen Ensembl
rs748179509 CA387043183	305	A>P		No	ClinGen ExAC TOPMed gnomAD
CA6845764 rs748179509	305	A>T		No	ClinGen ExAC TOPMed gnomAD
CA244739577 rs749904054	309	R>C		No	ClinGen gnomAD
rs1044706251 CA244739573	309	R>H		No	ClinGen TOPMed gnomAD
CA387043144 rs1402857702	311	P>A		No	ClinGen TOPMed
CA387043141 rs1309442127	311	P>R		No	ClinGen gnomAD
CA387043132 rs1410133887	313	A>S		No	ClinGen gnomAD
CA387043114 rs1426526590	316	L>V		No	ClinGen gnomAD
CA387043068 rs1281466237	319	M>T		No	ClinGen TOPMed
rs755829358 CA6845759	319	M>V		No	ClinGen ExAC gnomAD
CA6845757 rs529566365	323	A>S		No	ClinGen ExAC TOPMed gnomAD
rs529566365 CA6845758	323	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1566171898 CA387042968	327	S>N		No	ClinGen Ensembl
CA387042964 rs1473098243	327	S>R		No	ClinGen gnomAD
rs200449581 CA244739530	328	S>G		No	ClinGen 1000Genomes gnomAD
rs200449581 CA387042960	328	S>R		No	ClinGen 1000Genomes gnomAD
CA387042902 rs1180616358	332	R>Q		No	ClinGen gnomAD
CA6845754 rs765722392	332	R>W		No	ClinGen ExAC gnomAD
rs760065735 CA6845753	333	T>A		No	ClinGen ExAC gnomAD
CA387042885 rs1489974859	334	G>R		No	ClinGen TOPMed
CA387042868 rs766796511	335	L>P		No	ClinGen ExAC gnomAD
CA6845751 rs766796511	335	L>Q		No	ClinGen ExAC gnomAD
rs746694743 CA6845719	336	L>S		No	ClinGen ExAC gnomAD
rs747416161 CA244736171	338	E>D		No	ClinGen Ensembl
rs777242081 CA6845718	339	T>I		No	ClinGen ExAC gnomAD
CA387042219 rs1593144688	339	T>P		No	ClinGen Ensembl
CA6845714 rs756673399	341	S>C		No	ClinGen ExAC gnomAD
CA6845713 rs149345437	342	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs762223224 CA6845712	342	R>H		No	ClinGen ExAC TOPMed gnomAD
rs762223224 CA6845711	342	R>L		No	ClinGen ExAC TOPMed gnomAD
CA387042204 rs149345437	342	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA387042190 rs1333997878	344	A>G		No	ClinGen gnomAD
CA387042192 rs139638318	344	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6845709 rs139638318	344	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs769773249 CA6845706	349	G>S		No	ClinGen ExAC gnomAD
rs759437738 CA6845704	363	H>Y		No	ClinGen ExAC gnomAD
CA6845700 rs777483676	369	A>S		No	ClinGen ExAC
rs771617319 CA6845699	369	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1185073340 COSM1639061 CA387042008	371	R>Q	stomach [Cosmic]	No	ClinGen cosmic curated gnomAD
CA6845697 rs778260638	372	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs750993336 CA6845695	376	A>V		No	ClinGen ExAC TOPMed gnomAD
CA387041961 rs1593144426	378	V>G		No	ClinGen Ensembl
CA387041940 rs1593144384	382	T>A		No	ClinGen Ensembl
rs1228532230 CA387041936	382	T>K		No	ClinGen gnomAD
rs1228532230 CA387041937	382	T>R		No	ClinGen gnomAD
CA6845691 rs764436620	383	S>N		No	ClinGen ExAC gnomAD
rs763065261 CA6845690	384	H>P		No	ClinGen ExAC TOPMed gnomAD
CA244736053 rs759562298	385	V>L		No	ClinGen ExAC gnomAD
rs759562298 CA6845688	385	V>L		No	ClinGen ExAC gnomAD
CA6845687 COSM936220 rs759562298	385	V>M	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs772866981 CA387041917	386	G>R		No	ClinGen ExAC TOPMed gnomAD
CA6845683 rs772866981	386	G>R		No	ClinGen ExAC TOPMed gnomAD
CA387041901 rs1231116941	388	I>K		No	ClinGen gnomAD
rs771803727 CA6845682	389	E>Q		No	ClinGen ExAC gnomAD
rs768298643 CA6845679	393	A>T		No	ClinGen ExAC gnomAD
CA6845678 rs748744065	395	A>V		No	ClinGen ExAC gnomAD
rs747451046 CA6845676	396	R>P		No	ClinGen ExAC TOPMed gnomAD
rs747451046 CA6845675	396	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA6845677 rs373623005	396	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs758749763 CA6845673	397	D>N		No	ClinGen ExAC TOPMed gnomAD
CA387041845 rs1320593798	398	G>R		No	ClinGen TOPMed gnomAD
CA387041835 rs1287253263	399	H>R		No	ClinGen TOPMed gnomAD
rs1389580913 CA387041741	405	E>K		No	ClinGen gnomAD
CA244735443 rs866815234	410	M>V		No	ClinGen Ensembl
rs1382895063 CA387041640	414	R>*		No	ClinGen TOPMed
CA387041624 rs759555053	416	M>L		No	ClinGen gnomAD
CA244735437 rs759555053	416	M>V		No	ClinGen gnomAD
CA6845643 rs763892244	425	V>M		No	ClinGen ExAC gnomAD
rs1449553498 CA387041493	426	E>G		No	ClinGen gnomAD
rs1406976858 CA387041476	428	L>V		No	ClinGen TOPMed
rs1246990563 CA387041463	429	N>S		No	ClinGen TOPMed gnomAD
CA387041455 rs1206467096	430	Q>E		No	ClinGen gnomAD
rs1566160363 CA387041445	430	Q>H		No	ClinGen Ensembl
rs1258179200 CA387041427	432	E>G		No	ClinGen gnomAD
rs1485086821 CA387041430	432	E>K		No	ClinGen gnomAD
rs368106091 CA6845611	437	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA6845608 rs377032474	444	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA244733972 rs780211998	444	R>W		No	ClinGen ExAC TOPMed gnomAD
CA6845606 rs781303967	453	G>A		No	ClinGen ExAC TOPMed gnomAD
CA244733940 rs888178615	453	G>S		No	ClinGen TOPMed
CA6845605 rs757373444	454	D>V		No	ClinGen ExAC gnomAD
rs892360147 CA244732582	457	Q>K		No	ClinGen TOPMed gnomAD
CA6845592 rs374414304	457	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA387040673 rs1331149361	459	S>I		No	ClinGen TOPMed gnomAD
rs367998544 CA244732565	459	S>R		No	ClinGen gnomAD
rs866974585 CA387040665	460	Q>H		No	ClinGen TOPMed
rs866974585 CA244732562	460	Q>H		No	ClinGen TOPMed
CA6845590 rs746134099	461	I>V		No	ClinGen ExAC TOPMed gnomAD
CA387040639 rs1390309061	464	D>V		No	ClinGen gnomAD
rs776669313 CA387040635	465	P>A		No	ClinGen ExAC gnomAD
CA6845589 rs776669313	465	P>S		No	ClinGen ExAC gnomAD
rs899959132 CA244732557	467	N>K		No	ClinGen TOPMed gnomAD
rs1475069239 CA387040417	468	T>A		No	ClinGen TOPMed
rs375558745 CA6845565	468	T>M		No	ClinGen ESP ExAC gnomAD
CA6845564 rs772176134	471	K>I		No	ClinGen ExAC gnomAD
rs1336983577 CA387040371	472	L>P		No	ClinGen gnomAD
CA6845563 rs149025674	476	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1450585470 CA387040317	477	I>S		No	ClinGen gnomAD
rs1029215700 CA244729994	479	E>D		No	ClinGen Ensembl
CA244729968 rs994949864	482	Q>H		No	ClinGen Ensembl
rs754811442 CA6845561	482	Q>R		No	ClinGen ExAC gnomAD
CA244729963 rs899229922	486	F>L		No	ClinGen TOPMed
rs879120693 CA244729957	487	E>A		No	ClinGen Ensembl
CA387040182 rs1566150027	489	T>S		No	ClinGen Ensembl
CA387040149 rs1175278756	492	D>G		No	ClinGen TOPMed
rs1470154313 CA387040049	501	T>A		No	ClinGen gnomAD
rs1015071551 CA244729948	501	T>N		No	ClinGen TOPMed gnomAD
rs1566142853 CA387039503	503	V>M		No	ClinGen Ensembl
rs1057005136 CA244720179	504	A>T		No	ClinGen TOPMed
CA6845541 rs553708892	505	T>R		No	ClinGen 1000Genomes ExAC gnomAD
CA6845540 rs146882649	506	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA6845539 rs772296868	511	R>C		No	ClinGen ExAC TOPMed gnomAD
CA6845538 rs145140413 COSM1201384	511	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs145140413 CA387039417	511	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs772296868 CA387039423	511	R>S		No	ClinGen ExAC TOPMed gnomAD
CA6845536 rs768469663	512	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1377896022 CA387039379	515	L>M		No	ClinGen TOPMed
CA387039375 rs1467798293	515	L>P		No	ClinGen gnomAD
CA387039372 rs1332051089	516	E>Q		No	ClinGen Ensembl
CA6845534 rs779795896	520	A>T		No	ClinGen ExAC gnomAD
rs1223762192 CA387039279	524	Q>R		No	ClinGen TOPMed gnomAD
CA387039221 rs1393940748	530	R>G		No	ClinGen gnomAD
CA387038891 rs1324172594	530	R>Q		No	ClinGen gnomAD
CA387038875 rs1388646839	532	R>G		No	ClinGen TOPMed
CA6845531 rs370065017	533	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA387038852 rs1158251525	534	E>K		No	ClinGen gnomAD
CA6845530 rs756795883	535	S>F		No	ClinGen ExAC TOPMed gnomAD
CA387038831 rs1426645969	536	N>H		No	ClinGen gnomAD
rs201330075 RCV000500412 CA6845529	536	N>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6845528 rs779532830	538	P>A		No	ClinGen ExAC gnomAD
rs1466511909 CA387038787	540	G>R		No	ClinGen gnomAD
CA387038769 rs1315594870	541	D>V		No	ClinGen gnomAD
rs754293605 CA6845526	541	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA6845525 rs766881695	543	D>N		No	ClinGen ExAC gnomAD
rs761072099 CA6845524	546	L>I		No	ClinGen ExAC TOPMed gnomAD
rs903199739 CA387038631	553	S>N		No	ClinGen gnomAD
rs903199739 CA244720121	553	S>T		No	ClinGen gnomAD
CA6845521 rs762017537	554	S>Y		No	ClinGen ExAC gnomAD
rs774279426 CA6845520	555	L>S		No	ClinGen ExAC TOPMed gnomAD
rs768681700 CA6845519	556	Q>P		No	ClinGen ExAC gnomAD
CA6845518 rs762914163	561	V>D		No	ClinGen ExAC gnomAD
CA6845517 rs775361259	562	T>A		No	ClinGen ExAC TOPMed gnomAD
rs199998326 CA6845515	563	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199998326 CA6845516	563	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6845514 rs780891732	563	R>H		No	ClinGen ExAC gnomAD
rs141425023 CA6845512	566	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA6845513 rs770478534	566	H>Y		No	ClinGen ExAC
CA387038482 rs1294196698	567	Q>H		No	ClinGen TOPMed
CA387038487 rs1459893672	567	Q>R		No	ClinGen TOPMed
rs1368508316 CA387038476	568	R>K		No	ClinGen Ensembl
rs373824541 CA6845511	570	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA6845510 rs370376229	571	T>S		No	ClinGen ESP ExAC gnomAD
CA387038436 rs1212292415	572	S>A		No	ClinGen gnomAD
rs780646864 CA387038393	576	H>L		No	ClinGen ExAC gnomAD
CA6845508 COSM1511380 rs780646864	576	H>R	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs146619086 CA6845507	577	F>S		No	ClinGen ESP ExAC gnomAD
CA6845506 rs750810366	579	A>V		No	ClinGen ExAC gnomAD
CA387038353 rs1050623431	580	R>L		No	ClinGen TOPMed gnomAD
CA244720070 rs1050623431	580	R>Q		No	ClinGen TOPMed gnomAD
COSM1359597 CA6845505 rs767835144	580	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs757392653 CA6845504	584	H>Y		No	ClinGen ExAC gnomAD
CA6845503 rs751767143	586	K>E		No	ClinGen ExAC TOPMed gnomAD
CA6845502 rs764107433	586	K>T		No	ClinGen ExAC TOPMed gnomAD
rs201086053 CA6845500	588	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA6845499 rs775410509	588	I>T		No	ClinGen ExAC gnomAD
CA387038252 rs1354981066	590	A>P		No	ClinGen TOPMed
CA6845496 rs776270243	590	A>V		No	ClinGen ExAC TOPMed gnomAD
CA6845495 rs200905334	591	L>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs772870397 CA6845493	592	Y>F		No	ClinGen ExAC gnomAD
CA6845492 rs771496362	593	T>A		No	ClinGen ExAC gnomAD
CA387038222 rs1197557715	593	T>I		No	ClinGen gnomAD
COSM279938 rs780769680 CA6845490	594	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs371231033 CA6845488	595	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1232473017 CA387038189	597	K>E		No	ClinGen gnomAD
rs1353415524 CA387038185	597	K>R		No	ClinGen gnomAD
CA6845486 rs566290230	598	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA387038157 rs1391415901	600	K>T		No	ClinGen gnomAD
CA387038141 rs1166040899	601	E>D		No	ClinGen TOPMed
CA6845484 rs751748767 COSM415990	603	E>K	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs140859639 CA6845483	604	S>P		No	ClinGen 1000Genomes ExAC gnomAD
rs1166028749 CA387038092	606	K>R		No	ClinGen gnomAD
rs1475085973 CA387038061	609	L>V		No	ClinGen gnomAD
CA387038035 rs1416272160	611	H>L		No	ClinGen gnomAD
CA387038032 rs1566141784	611	H>Q		No	ClinGen Ensembl
COSM1162523 CA387038036 rs1416272160	611	H>R	pancreas [Cosmic]	No	ClinGen cosmic curated gnomAD
CA387038031 rs1593111728	612	A>T		No	ClinGen Ensembl
CA6845481 rs752762286	614	K>R		No	ClinGen ExAC gnomAD
rs1419725052 CA387037988	615	E>D		No	ClinGen gnomAD
rs1249958629 CA387037968	617	S>L		No	ClinGen TOPMed gnomAD
rs866125619 CA244719979	618	D>G		No	ClinGen Ensembl
rs1301177243 CA387037954	619	V>M		No	ClinGen gnomAD
CA6845480 rs765209495	620	I>T		No	ClinGen ExAC TOPMed gnomAD
rs376855869 CA6845478	621	A>V		No	ClinGen ESP ExAC gnomAD
rs1212798486 CA387037929	622	L>I		No	ClinGen gnomAD
CA387037921 rs1409439722	623	W>R		No	ClinGen TOPMed
CA387037892 rs1262398215	625	S>P		No	ClinGen gnomAD
CA6845473 rs151267608 COSM936216	632	A>T	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA387037799 rs1381909104	634	H>Y		No	ClinGen TOPMed
CA387037759 rs142282409	637	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA6845470 rs142282409	637	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA6845468 rs771208410	638	M>L		No	ClinGen ExAC TOPMed gnomAD
CA6845467 rs747395822	639	E>A		No	ClinGen ExAC TOPMed gnomAD
CA387037745 rs1454823323	639	E>K		No	ClinGen gnomAD
rs758597643 CA6845466	640	E>D		No	ClinGen ExAC gnomAD
CA6845464 rs752815648	641	L>P		No	ClinGen ExAC TOPMed gnomAD
CA6845463 rs778993891	643	V>A		No	ClinGen ExAC gnomAD
rs1253812578 CA387037698	643	V>I		No	ClinGen gnomAD
rs753731708 CA6845461	646	S>R		No	ClinGen ExAC gnomAD
rs1205635405 CA387037640	647	K>N		No	ClinGen gnomAD
CA6845460 rs187883697	648	G>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1443309578 CA387037613	650	G>E		No	ClinGen TOPMed
CA387037593 rs1302205735	652	E>G		No	ClinGen gnomAD
CA387037598 rs1254793669	652	E>Q		No	ClinGen gnomAD
CA6845458 rs140672946	653	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1566141177 CA387037558	656	F>L		No	ClinGen Ensembl
CA6845456 rs373461129	657	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1492792 rs1384823477 CA387037523	659	L>Q	kidney [Cosmic]	No	ClinGen cosmic curated gnomAD
CA387037493 rs1395812644	662	Q>P		No	ClinGen gnomAD
rs1204158039 CA387037466	664	E>V		No	ClinGen gnomAD
rs957212583 CA244719866	666	M>I		No	ClinGen Ensembl
rs768298544 CA6845453	666	M>R		No	ClinGen ExAC TOPMed gnomAD
rs768298544 CA387037443	666	M>T		No	ClinGen ExAC TOPMed gnomAD
CA244719865 rs772667119	671	Q>*		No	ClinGen Ensembl
CA6845452 rs762462472	672	H>Q		No	ClinGen ExAC gnomAD
rs985928234 CA244719864	672	H>R		No	ClinGen TOPMed
rs771456403 CA6845450	673	E>D		No	ClinGen ExAC gnomAD
CA6845451 rs201352592 COSM256641	673	E>K	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1259511288 CA387037314	678	Q>*		No	ClinGen gnomAD
rs747383933 CA6845449	678	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1365224183 CA387037280	681	Q>E		No	ClinGen TOPMed
CA387037266 rs1213656787	682	D>N		No	ClinGen TOPMed
CA6845448 rs778082284	684	E>Q		No	ClinGen ExAC gnomAD
CA6845446 rs748390978	685	R>Q		No	ClinGen ExAC gnomAD
rs772384537 CA6845447	685	R>W		No	ClinGen ExAC gnomAD
rs976997618 CA244719838	687	A>S		No	ClinGen TOPMed gnomAD
rs1031812329 CA244719832	690	K>Q		No	ClinGen TOPMed
rs1296854222 CA387037166	692	M>V		No	ClinGen gnomAD
CA6845444 rs139756199	693	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6845442 rs150986975	694	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6845443 rs150986975	694	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1356315062 CA387037140	694	A>V		No	ClinGen gnomAD
CA244719819 rs889082322	698	K>E		No	ClinGen TOPMed gnomAD
CA6845441 rs756053932	700	M>I		No	ClinGen ExAC gnomAD
rs750222654 CA6845440	703	I>T		No	ClinGen ExAC gnomAD
rs761646375 CA6845438	707	E>G		No	ClinGen ExAC gnomAD
CA6845437 rs751264671	708	N>H		No	ClinGen ExAC TOPMed gnomAD
rs1189976999 CA387036992	708	N>S		No	ClinGen gnomAD
rs751264671 CA387036996	708	N>Y		No	ClinGen ExAC TOPMed gnomAD
CA387036975 rs1256733010	710	L>M		No	ClinGen gnomAD
rs369283027 CA244719786	713	I>T		No	ClinGen TOPMed gnomAD
CA387036935 rs1405009840	714	R>K		No	ClinGen TOPMed
CA387036929 rs1194913166	714	R>S		No	ClinGen gnomAD
CA387036919 rs1468187624	715	S>L		No	ClinGen TOPMed
CA387036912 rs1566140684	716	K>T		No	ClinGen Ensembl
CA387036898 rs1276769697	717	L>P		No	ClinGen gnomAD
rs545710606 CA6845434	718	D>E		No	ClinGen 1000Genomes ExAC gnomAD
CA387036875 rs1356590091	720	A>V		No	ClinGen gnomAD
rs771384028 CA6845432	724	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1367269904 CA387036821	726	V>A		No	ClinGen TOPMed gnomAD
CA244719755 rs373375564	726	V>I		No	ClinGen ESP TOPMed gnomAD
rs149291259 CA6845428	730	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs774622840 CA6845427 COSM177686	731	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1484995954 CA387036749	736	Q>K		No	ClinGen Ensembl
CA387036747 rs1185778912	736	Q>R		No	ClinGen gnomAD
CA244719735 rs897758894	738	A>T		No	ClinGen TOPMed
CA6845422 rs757189888	743	K>N		No	ClinGen ExAC TOPMed gnomAD
CA6845420 rs757189888	743	K>N		No	ClinGen ExAC TOPMed gnomAD
CA387036675 rs1435661462	746	E>D		No	ClinGen gnomAD
CA6845419 rs751391260	747	V>L		No	ClinGen ExAC gnomAD
rs1566140444 CA387036666	748	L>P		No	ClinGen Ensembl
CA6845416 rs752254274	750	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1213805672 CA387036634	753	N>H		No	ClinGen TOPMed
rs1566140395 CA387036631	753	N>S		No	ClinGen Ensembl
CA6845415 rs764823471	754	E>K		No	ClinGen ExAC gnomAD
CA387036627 rs764823471	754	E>Q		No	ClinGen ExAC gnomAD
rs1248460613 CA387036607	756	T>I		No	ClinGen TOPMed
CA387036603 rs758910798	757	K>M		No	ClinGen ExAC gnomAD
CA6845414 rs758910798	757	K>T		No	ClinGen ExAC gnomAD
rs1488936098 CA387036595	758	V>A		No	ClinGen TOPMed
rs138481213 CA6845411	762	F>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA387036561 rs1428374415	763	T>S		No	ClinGen TOPMed
CA387036536 rs1479354822	767	K>E		No	ClinGen TOPMed
CA387036524 rs1393511642	768	A>V		No	ClinGen gnomAD
CA387036522 rs1412687634	769	T>A		No	ClinGen TOPMed
rs768798320 CA6845408	771	E>G		No	ClinGen ExAC TOPMed gnomAD
CA387036500 rs1402437794	772	K>E		No	ClinGen gnomAD
CA6845407 rs749553276	773	L>P		No	ClinGen ExAC gnomAD
rs769923304 CA6845405	776	L>H		No	ClinGen ExAC gnomAD
rs769923304 CA6845406	776	L>P		No	ClinGen ExAC gnomAD
CA387036457 rs1193926241	778	A>V		No	ClinGen gnomAD
rs369102215 CA244719670	780	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA6845402 rs369102215	780	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000913582 RCV000499920 CA6845403 COSM3780911 VAR_048672 rs3741447	780	R>W	pancreas [Cosmic]	No	ClinGen cosmic curated ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA6845401 rs746844810	781	K>E		No	ClinGen ExAC gnomAD
CA387036434 rs1285581441	783	S>G		No	ClinGen gnomAD
CA6845399 rs61954403	785	E>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6845398 rs61954403	785	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA387036413 rs1302104575	786	G>R		No	ClinGen TOPMed
CA6845396 rs147792689	788	S>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6845395 rs147792689	788	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1442002514 CA387036401	788	S>T		No	ClinGen gnomAD
CA6845393 rs768061150	793	L>F		No	ClinGen ExAC gnomAD
rs865919060 CA244719636	794	R>K		No	ClinGen Ensembl
CA387036315 rs1417291380	800	A>T		No	ClinGen gnomAD
rs1322362673 CA387036304	801	E>A		No	ClinGen TOPMed
rs774798604 CA6845389	804	I>M		No	ClinGen ExAC gnomAD
rs762275311 CA6845390	804	I>S		No	ClinGen ExAC gnomAD
rs1221802984 CA387036284	804	I>V		No	ClinGen TOPMed
rs1422636502 CA387036269	806	H>R		No	ClinGen gnomAD
CA6845388 rs764538976	806	H>Y		No	ClinGen ExAC gnomAD
rs1189771136 CA387036260	807	L>F		No	ClinGen gnomAD
rs763163041 CA6845387	808	E>D		No	ClinGen ExAC gnomAD
rs775850155 CA6845386	809	I>T		No	ClinGen ExAC gnomAD
CA244719580 rs925840463	809	I>V		No	ClinGen Ensembl
rs1484149367 CA387036218	813	A>G		No	ClinGen TOPMed
rs537513361 CA6845384	813	A>P		No	ClinGen 1000Genomes ExAC gnomAD
CA6845383 rs776825338	814	E>G		No	ClinGen ExAC gnomAD
rs1347345332 CA387036186	816	S>G		No	ClinGen gnomAD
rs922890663 CA244719545	816	S>N		No	ClinGen TOPMed
CA387036179 rs746967734	816	S>R		No	ClinGen ExAC TOPMed gnomAD
CA6845365 rs776946641	820	S>C		No	ClinGen ExAC gnomAD
CA6845364 rs771150248	821	I>T		No	ClinGen ExAC gnomAD
CA387035652 rs1167820339	821	I>V		No	ClinGen TOPMed gnomAD
CA387035625 rs1216580582	823	R>S		No	ClinGen gnomAD
CA6845363 rs575641700	825	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA244717658 rs770718692	826	Q>*		No	ClinGen Ensembl
CA387035597 rs773264545	826	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA387035586 rs1413577320	827	G>E		No	ClinGen gnomAD
CA6845359 rs778540801	828	R>K		No	ClinGen ExAC gnomAD
CA244717649 rs778540801	828	R>T		No	ClinGen ExAC gnomAD
rs748959643 CA6845358	829	E>*		No	ClinGen ExAC TOPMed gnomAD
rs748959643 CA6845357	829	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs779621726 CA6845356	829	E>V		No	ClinGen ExAC gnomAD
CA6845353 rs749889785	833	T>I		No	ClinGen ExAC gnomAD
rs1464422919 CA387035509	835	L>F		No	ClinGen gnomAD
CA6845352 rs778394140	836	Q>*		No	ClinGen ExAC gnomAD
rs890763486 CA244717541	838	N>S		No	ClinGen TOPMed gnomAD
rs918850864 CA244717535	839	L>F		No	ClinGen TOPMed
CA6845349 rs765723192	839	L>S		No	ClinGen ExAC gnomAD
rs1159385496 CA387035437	841	E>G		No	ClinGen Ensembl
CA387035443 rs1481047856	841	E>K		No	ClinGen gnomAD
CA387035419 rs1196481956	843	S>C		No	ClinGen gnomAD
rs1196481956 CA387035422	843	S>G		No	ClinGen gnomAD
CA244717532 rs972928592	843	S>R		No	ClinGen Ensembl
CA6845348 rs759924916	847	E>D		No	ClinGen ExAC TOPMed gnomAD
CA6845347 rs754114163	848	T>A		No	ClinGen ExAC TOPMed gnomAD
CA6845346 rs766700960	849	L>S		No	ClinGen ExAC gnomAD
rs933547422 CA244717499	850	E>G		No	ClinGen TOPMed gnomAD
rs767530278 CA6845343	855	I>L		No	ClinGen ExAC TOPMed gnomAD
rs767530278 CA244717482	855	I>V		No	ClinGen ExAC TOPMed gnomAD
rs762787152 CA6845320	858	E>K		No	ClinGen ExAC gnomAD
rs1028818537 CA244716238	859	K>E		No	ClinGen TOPMed gnomAD
rs775235994 CA6845319	860	F>L		No	ClinGen ExAC gnomAD
rs1455701961 CA387034566	861	A>T		No	ClinGen gnomAD
CA244716226 rs998320258	866	E>G		No	ClinGen TOPMed
rs1449680570 CA387034497	866	E>K		No	ClinGen gnomAD
rs776293783 CA6845316	868	V>I		No	ClinGen ExAC gnomAD
CA387034455 rs1487676067	869	S>A		No	ClinGen gnomAD
rs1283328324 CA387034435	871	Q>E		No	ClinGen gnomAD
CA6845315 rs369520506	873	S>N		No	ClinGen ESP ExAC gnomAD
CA6845314 rs746522317	873	S>R		No	ClinGen ExAC gnomAD
CA244716207 rs965717007	874	M>I		No	ClinGen TOPMed
rs767710331 CA6845306	878	V>I		No	ClinGen ExAC gnomAD
rs145232175 CA244715965	882	H>Y		No	ClinGen ESP TOPMed
rs1219640118 CA387034097	890	M>I		No	ClinGen TOPMed gnomAD
rs751619066 CA6845304	891	L>R		No	ClinGen ExAC TOPMed gnomAD
rs1340409517 CA387034088	891	L>V		No	ClinGen gnomAD
CA387034079 rs1386669590	892	S>P		No	ClinGen TOPMed gnomAD
CA6845302 rs762910298	896	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA387033987 rs1256471165	898	L>P		No	ClinGen TOPMed
CA387033960 rs1413043054	900	E>G		No	ClinGen gnomAD
CA244715946 rs976965082	903	A>T		No	ClinGen TOPMed gnomAD
CA6845276 rs765983522	905	M>I		No	ClinGen ExAC gnomAD
rs372008866 COSM202609 CA6845277	905	M>T	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs759310267 CA6845278	905	M>V		No	ClinGen ExAC gnomAD
CA387033294 rs1215960665	907	A>T		No	ClinGen gnomAD
CA6845275 rs549980998	910	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs749254173 CA244715380	912	K>T		No	ClinGen Ensembl
rs1245163383 CA387033179	913	D>G		No	ClinGen TOPMed
CA244715358 rs949573765	916	E>Q		No	ClinGen TOPMed gnomAD
CA387033131 rs1310219622	917	E>K		No	ClinGen gnomAD
rs1374365857 CA387033047	924	E>G		No	ClinGen gnomAD
CA6845271 rs367897279	925	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA387033028 rs1436970422	926	L>V		No	ClinGen gnomAD
rs918061562 CA244715332	927	E>V		No	ClinGen gnomAD
rs775926545 CA6845270	928	N>H		No	ClinGen ExAC gnomAD
rs992621180 CA244715324	928	N>I		No	ClinGen TOPMed
CA387032990 rs1401908468	929	D>G		No	ClinGen gnomAD
rs140057127 CA6845269	930	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201636468 CA6845268	930	I>T		No	ClinGen ExAC gnomAD
rs140057127 CA387032983	930	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1437376373 CA387032965	931	A>V		No	ClinGen gnomAD
rs781644359 CA6845267	933	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1566129138 CA387032932	934	M>T		No	ClinGen Ensembl
rs771236738 CA6845266	936	M>T		No	ClinGen ExAC gnomAD
rs758543229 CA6845263	941	S>F		No	ClinGen ExAC TOPMed gnomAD
CA6845264 rs17883517 VAR_048673	941	S>P		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6845262 rs752764232	942	S>C		No	ClinGen ExAC TOPMed gnomAD
CA6845259 rs753674361	944	L>P		No	ClinGen ExAC TOPMed gnomAD
CA387032809 rs1593090728	945	T>A		No	ClinGen Ensembl
rs143777418 CA6845258	947	M>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1566128978 CA387032769	948	N>I		No	ClinGen Ensembl
rs377320132 CA6845256	949	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA387032727 rs1273002854	951	L>F		No	ClinGen gnomAD
CA6845255 rs767272290	952	R>C		No	ClinGen ExAC gnomAD
rs373246411 CA6845253	952	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs373246411 CA6845254	952	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs148972936 CA244711647	958	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA6845229 rs148972936	958	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs773532271 CA6845226	962	Q>R		No	ClinGen ExAC gnomAD
rs1318401598 CA387031529	963	L>Q		No	ClinGen TOPMed gnomAD
CA244711598 rs958357696	964	K>E		No	ClinGen gnomAD
rs772383379 CA6845225	966	T>K		No	ClinGen ExAC gnomAD
rs1417717785 CA387031466	967	K>Q		No	ClinGen TOPMed
CA6845224 rs748421205	968	A>S		No	ClinGen ExAC gnomAD
rs774375536 CA6845223	970	E>D		No	ClinGen ExAC gnomAD
CA387031374 rs1376467993	972	A>G		No	ClinGen gnomAD
rs768785671 CA6845222	973	S>T		No	ClinGen ExAC gnomAD
CA6845221 rs199619793	974	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA387031335 rs199619793	974	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA244711555 rs1020846798	977	K>R		No	ClinGen Ensembl
rs368841249 CA6845220	979	I>F		No	ClinGen ESP ExAC gnomAD
rs1170574874 CA387031255	979	I>M		No	ClinGen gnomAD
CA387031267 rs368841249	979	I>V		No	ClinGen ESP ExAC gnomAD
rs201672010 CA244711535	981	D>E		No	ClinGen 1000Genomes
rs781159369 CA6845217 COSM1162992	981	D>G	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs745762522 CA6845218	981	D>N		No	ClinGen ExAC gnomAD
CA387031223 rs1423339019 COSM1605680	982	M>V	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
rs756945667 CA6845216	983	T>A		No	ClinGen ExAC gnomAD
CA387031189 rs1391023509	985	K>E		No	ClinGen TOPMed
CA6845215 rs777289536	985	K>I		No	ClinGen ExAC gnomAD
CA6845214 rs777289536	985	K>R		No	ClinGen ExAC gnomAD
rs753709921 CA6845213	986	A>T		No	ClinGen ExAC TOPMed gnomAD
CA387031166 rs1348355438	987	E>*		No	ClinGen TOPMed
rs376724531 CA387031113	991	Q>P		No	ClinGen ESP TOPMed gnomAD
CA244711512 rs376724531	991	Q>R		No	ClinGen ESP TOPMed gnomAD
rs766914209 CA6845211	992	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA6845210 rs761199333	993	A>G		No	ClinGen ExAC gnomAD
CA244711504 rs890671321	994	A>V		No	ClinGen Ensembl
CA6845209 rs750878371	996	K>R		No	ClinGen ExAC TOPMed gnomAD
CA6845208 rs767877376	997	H>R		No	ClinGen ExAC
rs376387832 CA6845205	1001	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs373349040 CA6845206	1001	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA244711454 rs1037249106	1002	K>E		No	ClinGen TOPMed
CA387031001 rs1486873070	1003	E>*		No	ClinGen TOPMed
CA244711448 rs996420349	1004	L>V		No	ClinGen gnomAD
CA387030971 rs1331017968	1005	E>G		No	ClinGen gnomAD
CA387030957 rs1393448454	1006	R>K		No	ClinGen gnomAD
rs201670489 CA6845202	1009	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6845179 rs772915574	1012	E>K		No	ClinGen ExAC gnomAD
rs772915574 CA387030863	1012	E>Q		No	ClinGen ExAC gnomAD
rs754548272 CA6845173	1015	M>I		No	ClinGen ExAC
rs571719098 CA6845175	1015	M>K		No	ClinGen 1000Genomes ExAC gnomAD
rs571719098 CA6845174	1015	M>R		No	ClinGen 1000Genomes ExAC gnomAD
CA6845171 rs200453518	1016	E>K		No	ClinGen 1000Genomes gnomAD
rs77289752 CA6845166	1017	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781747217 CA6845162	1018	S>N		No	ClinGen ExAC
CA6845159 rs574120310	1019	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs924615128 CA244711077	1020	N>S		No	ClinGen TOPMed gnomAD
RCV000186502 rs875989820 CA10575741	1021	Q>*		No	ClinGen ClinVar Ensembl dbSNP
CA387030710 rs1188767398	1022	C>R		No	ClinGen TOPMed
CA387030706 rs375448954	1022	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs375448954 CA6845158	1022	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1347566601 CA387030687	1024	E>K		No	ClinGen TOPMed gnomAD
rs1347566601 CA387030686	1024	E>Q		No	ClinGen TOPMed gnomAD
CA387030674 rs1186707159	1025	L>V		No	ClinGen TOPMed
rs758771606 CA244711062	1027	A>G		No	ClinGen ExAC gnomAD
rs758771606 CA6845156	1027	A>V		No	ClinGen ExAC gnomAD
rs200040604 CA6845155	1028	R>K		No	ClinGen 1000Genomes ExAC TOPMed
CA6845154 rs765546468	1028	R>S		No	ClinGen ExAC TOPMed gnomAD
rs992735445 CA244711049	1033	T>I		No	ClinGen TOPMed gnomAD
rs1555264879 RCV000501589 CA387030566	1033	T>S		No	ClinGen ClinVar Ensembl dbSNP
rs1340029294 CA387030516	1036	T>A		No	ClinGen gnomAD
rs759741538 CA6845153	1037	K>N		No	ClinGen ExAC gnomAD
rs145767151 CA244711042	1038	T>N		No	ClinGen ESP
rs145767151 CA387030470	1038	T>S		No	ClinGen ESP
CA244711019 rs914522566	1040	H>Y		No	ClinGen TOPMed gnomAD
rs937268710 CA244710997	1045	Q>K		No	ClinGen TOPMed
rs371172529 CA6845150	1048	Q>R		No	ClinGen ESP ExAC gnomAD
CA6845149 rs773140799	1050	T>M		No	ClinGen ExAC TOPMed gnomAD
CA387030165 rs1442573493	1053	D>G		No	ClinGen gnomAD
rs1420187920 CA387030141	1054	T>R		No	ClinGen TOPMed gnomAD
CA387030096 rs1164274396	1057	K>R		No	ClinGen gnomAD
CA6845146 rs774047075	1059	K>N		No	ClinGen ExAC gnomAD
rs748836814 CA6845144	1061	A>T		No	ClinGen ExAC gnomAD
CA6845142 rs755593779	1062	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs149786638 CA6845143	1062	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1450332791 CA387029949	1065	N>T		No	ClinGen gnomAD
CA6845139 rs147677592	1067	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs142428394 CA6845140	1067	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs753092099 CA6845138	1068	L>W		No	ClinGen ExAC gnomAD
rs1593076027 CA387029820	1072	L>R		No	ClinGen Ensembl
CA387029798 rs1431264122	1074	E>*		No	ClinGen TOPMed
rs1160939678 CA387029792	1074	E>V		No	ClinGen TOPMed
rs755286283 CA6845136	1075	L>V		No	ClinGen ExAC gnomAD
rs1164453550 CA387029769	1076	R>K		No	ClinGen gnomAD
rs766378666 CA6845134	1077	K>R		No	ClinGen ExAC gnomAD
rs760737111 CA6845133	1078	Q>K		No	ClinGen ExAC gnomAD
CA6845130 VAR_020398 rs1129167	1080	D>E		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs767426784 CA6845131	1080	D>N		No	ClinGen ExAC TOPMed gnomAD
CA387029698 rs1199668290	1081	K>T		No	ClinGen gnomAD
rs774100378 CA6845129	1082	A>T		No	ClinGen ExAC gnomAD
CA6845099 rs574633657	1085	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA387028333 rs574633657	1085	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781272448 CA6845096	1088	A>E		No	ClinGen ExAC TOPMed gnomAD
CA387028285 rs781272448	1088	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1281354456 CA387028278	1089	E>A		No	ClinGen TOPMed gnomAD
rs751565682 CA6845094	1089	E>K		No	ClinGen ExAC gnomAD
rs184874783 CA244702816	1090	D>Y		No	ClinGen 1000Genomes
rs1390300560 CA387028257	1091	A>T		No	ClinGen TOPMed
rs764007777 CA244702796	1094	I>K		No	ClinGen ExAC gnomAD
rs764007777 CA6845093	1094	I>T		No	ClinGen ExAC gnomAD
CA244702807 rs780375866	1094	I>V		No	ClinGen Ensembl
CA387028206 rs1428141857	1095	M>I		No	ClinGen gnomAD
rs1297183836 CA387028210	1095	M>T		No	ClinGen TOPMed gnomAD
rs762708209 CA6845092	1095	M>V		No	ClinGen ExAC gnomAD
CA6845091 rs752508417	1100	K>E		No	ClinGen ExAC TOPMed gnomAD
rs764904613 CA6845090	1103	T>N		No	ClinGen ExAC gnomAD
CA244702739 rs958294690	1111	D>G		No	ClinGen Ensembl
rs1341632649 CA387028052	1113	K>E		No	ClinGen TOPMed
CA387028048 rs1186007271	1113	K>R		No	ClinGen TOPMed gnomAD
CA387028019 rs1282488283	1117	A>G		No	ClinGen TOPMed
CA6845088 rs776369852	1118	K>R		No	ClinGen ExAC gnomAD
rs1481199665 CA387027998	1120	Q>H		No	ClinGen TOPMed gnomAD
rs1210534211 CA387027996	1121	N>D		No	ClinGen gnomAD
CA387027989 rs1478308530	1122	E>K		No	ClinGen Ensembl
CA387027986 rs1311429006	1122	E>V		No	ClinGen gnomAD
rs760307304 CA6845065	1124	D>G		No	ClinGen ExAC gnomAD
rs1323044854 CA387027961	1124	D>H		No	ClinGen gnomAD
rs772814616 CA6845064	1126	L>R		No	ClinGen ExAC gnomAD
rs766895146 CA387027944	1127	K>E		No	ClinGen ExAC gnomAD
rs766895146 CA6845063	1127	K>Q		No	ClinGen ExAC gnomAD
rs1298144514 CA387027915	1130	N>K		No	ClinGen gnomAD
CA6845061 rs763537221	1130	N>S		No	ClinGen ExAC TOPMed gnomAD
CA6845060 rs775803574	1133	N>I		No	ClinGen ExAC gnomAD
rs770260600 CA6845059	1135	E>K		No	ClinGen ExAC gnomAD
rs1005218209 CA244700618	1138	N>I		No	ClinGen TOPMed gnomAD
CA387027862 rs1005218209	1138	N>S		No	ClinGen TOPMed gnomAD
CA387027854 rs1180226166	1139	K>I		No	ClinGen gnomAD
CA6845055 rs747194945	1140	S>T		No	ClinGen ExAC gnomAD
rs1489167579 CA387027845	1141	K>E		No	ClinGen gnomAD
CA244700604 rs887990606	1142	E>K		No	ClinGen TOPMed
rs1566107609 CA387027827	1143	L>R		No	ClinGen Ensembl
rs758355764 COSM1135325 CA6845052	1145	T>I	kidney [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA387027812 rs1287775791	1146	V>A		No	ClinGen gnomAD
rs748125127 CA6845051	1146	V>I		No	ClinGen ExAC TOPMed gnomAD
CA387027807 rs1593049483	1147	E>A		No	ClinGen Ensembl
rs1242730063 CA387027803	1147	E>D		No	ClinGen TOPMed gnomAD
rs1378200458 CA387027793	1149	Q>K		No	ClinGen gnomAD
CA6845050 rs373506308	1151	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1050676636 CA244700559	1151	M>V		No	ClinGen TOPMed
CA387027761 rs1407438404	1153	E>K		No	ClinGen TOPMed
CA387041171 rs1314408816	1164	A>V		No	ClinGen gnomAD
rs867955289 CA244735043	1165	A>V		No	ClinGen TOPMed gnomAD
rs57346498 CA244735035	1166	A>V		No	ClinGen Ensembl
rs1593033871 CA387041110	1169	S>F		No	ClinGen Ensembl
rs756510702 CA6845035	1174	A>V		No	ClinGen ExAC TOPMed gnomAD
CA387041026 rs1400778162	1176	Q>*		No	ClinGen gnomAD
CA6845033 rs748158902	1176	Q>R		No	ClinGen ExAC gnomAD
rs768680491 CA6845031	1177	E>K		No	ClinGen ExAC gnomAD
CA6845030 rs749195892	1178	E>K		No	ClinGen ExAC gnomAD
CA387040994 rs1175702291	1178	E>V		No	ClinGen gnomAD
CA244735005 rs200590572	1179	N>D		No	ClinGen 1000Genomes
CA6845029 rs150790524	1180	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs755914133 CA6845028	1181	K>T		No	ClinGen ExAC gnomAD
rs1398687991 CA387040884	1187	G>R		No	ClinGen TOPMed
rs375267504 CA387040851	1189	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs756842406 COSM168637 CA6845025	1192	E>K	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA6845023 rs763621326	1195	S>G		No	ClinGen ExAC
rs1566100573 CA387040769	1196	H>N		No	ClinGen Ensembl
rs1223506759 CA387040744	1197	Q>H		No	ClinGen TOPMed gnomAD
rs1402339055 CA387036127	1206	L>V		No	ClinGen gnomAD
rs1408861832 CA387036113	1208	N>D		No	ClinGen gnomAD
CA6845001 rs750719739	1210	L>F		No	ClinGen ExAC gnomAD
rs1231858405 CA387036090	1211	L>*		No	ClinGen gnomAD
rs1279292614 CA387036091	1211	L>I		No	ClinGen gnomAD
rs1472884382 CA387036085	1212	E>K		No	ClinGen gnomAD
rs1183319975 CA387036071 VAR_036446 COSM32251	1213	M>I	a breast cancer sample; somatic mutation breast [UniProt, Cosmic]	No	ClinGen cosmic curated UniProt dbSNP gnomAD
rs1384259245 CA387036074	1213	M>K		No	ClinGen gnomAD
rs1363550638 CA387036064	1214	K>R		No	ClinGen TOPMed
rs1240566384 CA387036051	1216	R>*		No	ClinGen gnomAD
rs761966741 CA6844999	1216	R>I		No	ClinGen ExAC
CA6844982 rs747639103	1217	E>D		No	ClinGen ExAC TOPMed gnomAD
CA387033290 rs1470034728	1220	F>L		No	ClinGen gnomAD
rs780583063 CA6844981	1221	I>L		No	ClinGen ExAC gnomAD
CA387033244 rs1201059475	1222	K>E		No	ClinGen gnomAD
CA387033203 rs756613341	1223	D>E		No	ClinGen ExAC TOPMed gnomAD
VAR_048674 rs17881033 CA6844978 RCV000970877	1224	A>S		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs17881033 CA6844979	1224	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1296988535 CA387033061	1231	L>*		No	ClinGen TOPMed
CA244720319 rs756055262	1232	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA6844977 rs756055262	1232	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs1437033925 CA387033025	1233	K>T		No	ClinGen TOPMed gnomAD
rs1284617040 CA387033003	1234	S>Y		No	ClinGen TOPMed gnomAD
rs1223032646 CA387032959	1237	I>K		No	ClinGen TOPMed gnomAD
rs1223032646 CA387032957	1237	I>T		No	ClinGen TOPMed gnomAD
CA387032964 rs1566069686	1237	I>V		No	ClinGen Ensembl
CA6844976 rs751898190	1240	A>V		No	ClinGen ExAC gnomAD
rs1396205749 CA387032794	1247	A>V		No	ClinGen gnomAD
CA6844972 rs368279544	1248	E>K		No	ClinGen ESP TOPMed gnomAD
rs1305725004 CA387032635	1258	V>M		No	ClinGen TOPMed gnomAD
rs1017694955 CA244720213	1259	L>P		No	ClinGen Ensembl
rs773928829 CA6844944	1264	A>D		No	ClinGen ExAC gnomAD
rs143953208 CA6844945	1264	A>T		No	ClinGen ESP ExAC gnomAD
CA244720204 rs372003670	1267	K>R		No	ClinGen ESP TOPMed
CA387032562 rs1592959611	1269	L>W		No	ClinGen Ensembl
CA387032537 rs781598963	1273	V>A		No	ClinGen ExAC TOPMed gnomAD
rs781598963 CA6844941	1273	V>D		No	ClinGen ExAC TOPMed gnomAD
rs748818122 CA6844942	1273	V>F		No	ClinGen ExAC gnomAD
rs1270753189 COSM1188639 CA387032528	1274	Q>H	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1027012762 CA244720176	1276	L>P		No	ClinGen TOPMed
rs1422624328 CA387032506	1278	S>C		No	ClinGen TOPMed
CA244720165 rs528780009	1284	E>K		No	ClinGen gnomAD
CA244720166 rs528780009	1284	E>Q		No	ClinGen gnomAD
CA244720160 rs113078373	1286	K>R		No	ClinGen Ensembl
rs753032722 CA6844935	1288	K>E		No	ClinGen ExAC gnomAD
CA6844934 rs779179962	1289	N>S		No	ClinGen ExAC gnomAD
CA387032369 rs1405970275	1297	N>K		No	ClinGen gnomAD
CA387032363 rs1355046582	1298	K>R		No	ClinGen TOPMed gnomAD
rs1355046582 CA387032364	1298	K>T		No	ClinGen TOPMed gnomAD
rs753919708 CA6844932	1299	R>W		No	ClinGen ExAC gnomAD
CA244720131 rs199704878	1300	Q>L		No	ClinGen Ensembl
CA6844931 rs766333607	1303	S>N		No	ClinGen ExAC TOPMed gnomAD
CA387032329 rs766333607	1303	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1555254014 CA387032314	1305	S>L		No	ClinGen Ensembl
CA6844893 rs759101711	1307	N>D		No	ClinGen ExAC TOPMed gnomAD
rs1426268021 CA387032212	1307	N>I		No	ClinGen TOPMed
CA6844891 rs772671639	1309	D>V		No	ClinGen ExAC gnomAD
CA387032168 rs1318019980	1312	A>P		No	ClinGen gnomAD
CA387032160 rs1566068483	1313	D>Y		No	ClinGen Ensembl
rs1592957865 CA387032148	1314	E>D		No	ClinGen Ensembl
CA387032154 rs1389738894	1314	E>K		No	ClinGen gnomAD
CA387032140 rs1291526535	1315	D>V		No	ClinGen gnomAD
rs1347529186 CA387032135	1316	E>K		No	ClinGen gnomAD
CA6844889 rs774805131	1317	R>K		No	ClinGen ExAC gnomAD
rs375902728 CA6844888	1318	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA244719773 rs987262518	1319	Q>R		No	ClinGen TOPMed gnomAD
CA387029666 rs1244292491	1323	I>F		No	ClinGen gnomAD
CA387029637 rs1183580542	1324	D>Y		No	ClinGen gnomAD
rs1451131340 CA387029580	1328	S>A		No	ClinGen TOPMed
rs1215680834 CA387029469	1334	Q>H		No	ClinGen gnomAD
CA387029477 rs1196475235	1334	Q>P		No	ClinGen gnomAD
CA6844856 rs770931721	1335	R>G		No	ClinGen ExAC TOPMed gnomAD
CA387029460 rs1389144015	1335	R>K		No	ClinGen TOPMed
rs747032210 CA6844855	1337	N>K		No	ClinGen ExAC gnomAD
rs1359960729 CA387029352	1340	L>R		No	ClinGen gnomAD
CA387029336 rs1357292778	1341	K>N		No	ClinGen gnomAD
rs200545577 CA6844853	1342	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA244717880 rs752401372	1345	E>D		No	ClinGen ExAC gnomAD
rs1359242098 CA387029277	1345	E>K		No	ClinGen TOPMed
CA387029248 rs1337496644	1346	M>T		No	ClinGen gnomAD
rs778807287 CA6844851	1348	S>*		No	ClinGen ExAC gnomAD
rs375977049 CA6844849	1349	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA6844848 rs765996522	1350	A>T		No	ClinGen ExAC gnomAD
rs764488108 CA6844846	1355	N>K		No	ClinGen ExAC TOPMed gnomAD
rs764488108 CA6844845	1355	N>K		No	ClinGen ExAC TOPMed gnomAD
rs201297279 RCV000501134 CA6844844	1356	G>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1472075139 CA387029079	1361	N>S		No	ClinGen TOPMed gnomAD
rs775864030 CA6844843	1364	S>T		No	ClinGen ExAC gnomAD
CA244717084 rs953811693	1365	D>G		No	ClinGen TOPMed gnomAD
CA387028785 rs1460900012	1365	D>N		No	ClinGen TOPMed
rs1380568481 CA387028758	1368	E>G		No	ClinGen TOPMed
CA244717080 rs921050230	1370	Q>*		No	ClinGen TOPMed gnomAD
rs1313393288 CA387028743	1370	Q>R		No	ClinGen TOPMed
rs1201720123 CA387028729	1372	K>T		No	ClinGen gnomAD
rs1268512580 CA387028714	1374	K>T		No	ClinGen gnomAD
rs1219072804 CA387028709	1375	P>T		No	ClinGen gnomAD
rs1592945315 CA387028702	1376	R>G		No	ClinGen Ensembl
rs1367533743 CA387028700 COSM202598	1376	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs749871623 CA6844827	1384	C>W		No	ClinGen ExAC gnomAD
rs1327007342 CA387028619	1387	L>F		No	ClinGen gnomAD
rs767013197 CA6844826	1389	D>N		No	ClinGen ExAC TOPMed gnomAD
CA387028593 rs1251120121 COSM3811297	1391	E>Q	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1272783360 CA387028564	1395	T>A		No	ClinGen gnomAD
rs267603352 CA244717052	1395	T>I		No	ClinGen Ensembl
CA387028539 rs976428600	1398	Q>H		No	ClinGen TOPMed
rs753134528 CA6844824	1399	M>I		No	ClinGen ExAC gnomAD
CA387028533 rs1566062889	1399	M>K		No	ClinGen Ensembl
CA244717023 rs965447390	1400	S>L		No	ClinGen TOPMed gnomAD
CA387028520 rs1457138622	1401	E>A		No	ClinGen gnomAD
rs759878975 CA6844822	1402	D>E		No	ClinGen ExAC gnomAD
CA6844821 rs530883283	1403	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs771024484 CA6844820	1404	P>A		No	ClinGen ExAC gnomAD
rs1483547023 CA387028495	1405	H>R		No	ClinGen TOPMed
CA387028479 rs772128872	1408	H>N		No	ClinGen ExAC gnomAD
rs772128872 CA6844816	1408	H>Y		No	ClinGen ExAC gnomAD
RCV000504181 rs765475076 CA6844815	1409	H>R		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs768633365 CA6844813	1411	S>N		No	ClinGen ExAC gnomAD
CA387028450 rs779798650	1412	R>L		No	ClinGen ExAC gnomAD
CA6844811 rs779798650	1412	R>P		No	ClinGen ExAC gnomAD
CA387028451 rs779798650	1412	R>Q		No	ClinGen ExAC gnomAD
CA6844812 rs749072917	1412	R>W		No	ClinGen ExAC TOPMed gnomAD
CA387028444 rs1188862359	1413	G>V		No	ClinGen TOPMed
rs999756920 COSM202597 CA244716881	1416	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA387028425 rs1275907046	1416	R>H		No	ClinGen gnomAD
rs755755699 CA6844810	1417	P>L		No	ClinGen ExAC gnomAD
CA387028404 rs1426179371	1419	C>Y		No	ClinGen TOPMed
rs780582171 CA387028398	1420	E>A		No	ClinGen ExAC TOPMed gnomAD
rs780582171 CA6844808	1420	E>V		No	ClinGen ExAC TOPMed gnomAD
rs756787282 CA6844807	1421	I>M		No	ClinGen ExAC gnomAD
rs140536558 CA6844806	1422	C>*		No	ClinGen 1000Genomes ExAC gnomAD
CA387028366 rs1434890610	1424	M>I		No	ClinGen gnomAD
CA387028338 rs753261077	1427	H>P		No	ClinGen ExAC TOPMed gnomAD
CA6844805 rs753261077	1427	H>R		No	ClinGen ExAC TOPMed gnomAD
rs141501239 CA6844804	1430	T>A		No	ClinGen ESP ExAC TOPMed
rs1470338305 CA387028294	1430	T>I		No	ClinGen gnomAD
CA387028302 rs141501239	1430	T>S		No	ClinGen ESP ExAC TOPMed
rs1174053548 CA387028284	1431	N>S		No	ClinGen gnomAD
CA387028286 rs1174053548	1431	N>T		No	ClinGen gnomAD
rs1436054594 CA387028247	1433	N>S		No	ClinGen TOPMed
CA6844803 rs138337233	1434	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs766712693 CA6844801	1435	D>N		No	ClinGen ExAC gnomAD
COSM936200 CA387028198 rs1592944797	1436	E>K	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1592944784 CA387028178	1437	T>P		No	ClinGen Ensembl

No associated diseases with P30622

4 regional properties for P30622

Type	Name	Position	InterPro Accession
domain	CAP Gly-rich domain	60 - 125	IPR000938-1
domain	CAP Gly-rich domain	214 - 279	IPR000938-2
domain	CLIP1, zinc knuckle	1376 - 1393	IPR032108-1
domain	CLIP1, zinc knuckle	1416 - 1432	IPR032108-2

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Cytoplasm, cytoskeleton Cytoplasmic vesicle membrane ; Peripheral membrane protein; Cytoplasmic side Cell projection, ruffle	Localizes to microtubule plus ends (PubMed:17889670, PubMed:21646404) Localizes preferentially to the ends of tyrosinated microtubules (By similarity) Accumulates in plasma membrane regions with ruffling and protrusions Associates with the membranes of intermediate macropinocytic vesicles (PubMed:12433698)
PANTHER Family	PTHR18916	DYNACTIN 1-RELATED MICROTUBULE-BINDING
PANTHER Subfamily	PTHR18916:SF44	CAP-GLY DOMAIN-CONTAINING LINKER PROTEIN 1
PANTHER Protein Class	chaperone
PANTHER Pathway Category	No pathway information available

10 GO annotations of cellular component

Name	Definition
centrosome	A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoplasmic vesicle membrane	The lipid bilayer surrounding a cytoplasmic vesicle.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
intermediate filament	A cytoskeletal structure that forms a distinct elongated structure, characteristically 10 nm in diameter, that occurs in the cytoplasm of eukaryotic cells. Intermediate filaments form a fibrous system, composed of chemically heterogeneous subunits and involved in mechanically integrating the various components of the cytoplasmic space. Intermediate filaments may be divided into five chemically distinct classes: Type I, acidic keratins; Type II, basic keratins; Type III, including desmin, vimentin and others; Type IV, neurofilaments and related filaments; and Type V, lamins.
kinetochore	A multisubunit complex that is located at the centromeric region of DNA and provides an attachment point for the spindle microtubules.
microtubule	Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle.
microtubule cytoskeleton	The part of the cytoskeleton (the internal framework of a cell) composed of microtubules and associated proteins.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
ruffle	Projection at the leading edge of a crawling cell; the protrusions are supported by a microfilament meshwork.

5 GO annotations of molecular function

Name	Definition
identical protein binding	Binding to an identical protein or proteins.
microtubule binding	Binding to a microtubule, a filament composed of tubulin monomers.
microtubule plus-end binding	Binding to the plus end of a microtubule.
tubulin binding	Binding to monomeric or multimeric forms of tubulin, including microtubules.
zinc ion binding	Binding to a zinc ion (Zn).

4 GO annotations of biological process

Name	Definition
cytoplasmic microtubule organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of structures formed of microtubules and associated proteins in the cytoplasm of a cell.
microtubule bundle formation	A process that results in a parallel arrangement of microtubules.
mitotic cell cycle	Progression through the phases of the mitotic cell cycle, the most common eukaryotic cell cycle, which canonically comprises four successive phases called G1, S, G2, and M and includes replication of the genome and the subsequent segregation of chromosomes into daughter cells. In some variant cell cycles nuclear replication or nuclear division may not be followed by cell division, or G1 and G2 phases may be absent.
positive regulation of microtubule polymerization	Any process that activates or increases the frequency, rate or extent of microtubule polymerization.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O42184	CLIP1	CAP-Gly domain-containing linker protein 1	Gallus gallus (Chicken)	SS
Q9VJE5	CLIP-190	Restin homolog	Drosophila melanogaster (Fruit fly)	SS
Q922J3	Clip1	CAP-Gly domain-containing linker protein 1	Mus musculus (Mouse)	SS
Q9JK25	Clip1	CAP-Gly domain-containing linker protein 1	Rattus norvegicus (Rat)	EV

10	20	30	40	50	60
MSMLKPSGLK	APTKILKPGS	TALKTPTAVV	APVEKTISSE	KASSTPSSET	QEEFVDDFRV
70	80	90	100	110	120
GERVWVNGNK	PGFIQFLGET	QFAPGQWAGI	VLDEPIGKND	GSVAGVRYFQ	CEPLKGIFTR
130	140	150	160	170	180
PSKLTRKVQA	EDEANGLQTT	PASRATSPLC	TSTASMVSSS	PSTPSNIPQK	PSQPAAKEPS
190	200	210	220	230	240
ATPPISNLTK	TASESISNLS	EAGSIKKGER	ELKIGDRVLV	GGTKAGVVRF	LGETDFAKGE
250	260	270	280	290	300
WCGVELDEPL	GKNDGAVAGT	RYFQCQPKYG	LFAPVHKVTK	IGFPSTTPAK	AKANAVRRVM
310	320	330	340	350	360
ATTSASLKRS	PSASSLSSMS	SVASSVSSRP	SRTGLLTETS	SRYARKISGT	TALQEALKEK
370	380	390	400	410	420
QQHIEQLLAE	RDLERAEVAK	ATSHVGEIEQ	ELALARDGHD	QHVLELEAKM	DQLRTMVEAA
430	440	450	460	470	480
DREKVELLNQ	LEEEKRKVED	LQFRVEEESI	TKGDLEQKSQ	ISEDPENTQT	KLEHARIKEL
490	500	510	520	530	540
EQSLLFEKTK	ADKLQRELED	TRVATVSEKS	RIMELEKDLA	LRVQEVAELR	RRLESNKPAG
550	560	570	580	590	600
DVDMSLSLLQ	EISSLQEKLE	VTRTDHQREI	TSLKEHFGAR	EETHQKEIKA	LYTATEKLSK
610	620	630	640	650	660
ENESLKSKLE	HANKENSDVI	ALWKSKLETA	IASHQQAMEE	LKVSFSKGLG	TETAEFAELK
670	680	690	700	710	720
TQIEKMRLDY	QHEIENLQNQ	QDSERAAHAK	EMEALRAKLM	KVIKEKENSL	EAIRSKLDKA
730	740	750	760	770	780
EDQHLVEMED	TLNKLQEAEI	KVKELEVLQA	KCNEQTKVID	NFTSQLKATE	EKLLDLDALR
790	800	810	820	830	840
KASSEGKSEM	KKLRQQLEAA	EKQIKHLEIE	KNAESSKASS	ITRELQGREL	KLTNLQENLS
850	860	870	880	890	900
EVSQVKETLE	KELQILKEKF	AEASEEAVSV	QRSMQETVNK	LHQKEEQFNM	LSSDLEKLRE
910	920	930	940	950	960
NLADMEAKFR	EKDEREEQLI	KAKEKLENDI	AEIMKMSGDN	SSQLTKMNDE	LRLKERDVEE
970	980	990	1000	1010	1020
LQLKLTKANE	NASFLQKSIE	DMTVKAEQSQ	QEAAKKHEEE	KKELERKLSD	LEKKMETSHN
1030	1040	1050	1060	1070	1080
QCQELKARYE	RATSETKTKH	EEILQNLQKT	LLDTEDKLKG	AREENSGLLQ	ELEELRKQAD
1090	1100	1110	1120	1130	1140
KAKAAQTAED	AMQIMEQMTK	EKTETLASLE	DTKQTNAKLQ	NELDTLKENN	LKNVEELNKS
1150	1160	1170	1180	1190	1200
KELLTVENQK	MEEFRKEIET	LKQAAAQKSQ	QLSALQEENV	KLAEELGRSR	DEVTSHQKLE
1210	1220	1230	1240	1250	1260
EERSVLNNQL	LEMKKRESKF	IKDADEEKAS	LQKSISITSA	LLTEKDAELE	KLRNEVTVLR
1270	1280	1290	1300	1310	1320
GENASAKSLH	SVVQTLESDK	VKLELKVKNL	ELQLKENKRQ	LSSSSGNTDT	QADEDERAQE
1330	1340	1350	1360	1370	1380
SQIDFLNSVI	VDLQRKNQDL	KMKVEMMSEA	ALNGNGDDLN	NYDSDDQEKQ	SKKKPRLFCD
1390	1400	1410	1420	1430
ICDCFDLHDT	EDCPTQAQMS	EDPPHSTHHG	SRGEERPYCE	ICEMFGHWAT	NCNDDETF