AiPD: Autoinhibited Protein Database

A2CJ06

Gene name	DYTN
Protein name	Dystrotelin
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:391475
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

26-102 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

26-102 (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

1 structures for A2CJ06

Entry ID	Method	Resolution	Chain	Position	Source
AF-A2CJ06-F1	Predicted				AlphaFoldDB

549 variants for A2CJ06

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA350061906 rs1276686395	2	D>H		No	ClinGen gnomAD
CA350061918 rs1276686395	2	D>N		No	ClinGen gnomAD
CA350061851 rs1202987113	3	P>A		No	ClinGen gnomAD
rs745873822 CA2074280	4	D>H		No	ClinGen ExAC gnomAD
rs1274872967 CA350061769	5	K>E		No	ClinGen TOPMed gnomAD
rs760077745 CA63713222	7	D>E		No	ClinGen ExAC TOPMed gnomAD
rs954505445 CA63713217	9	L>V		No	ClinGen TOPMed
rs1400211393 CA350059112	10	N>D		No	ClinGen gnomAD
CA2074259 rs372992603	11	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA350059056 rs1457921677	12	I>V		No	ClinGen gnomAD
TCGA novel	13	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350059017 rs1420684941	14	N>H		No	ClinGen TOPMed
rs902759043 CA63713213	14	N>K		No	ClinGen Ensembl
CA350058986 rs1411799461	15	S>Y		No	ClinGen TOPMed
CA2074258 rs770968709	16	I>T		No	ClinGen ExAC gnomAD
CA350058871 rs1469490272	20	A>D		No	ClinGen gnomAD
CA350058807 rs1237980536	23	L>S		No	ClinGen gnomAD
CA350058783 rs1440172151	24	Q>L		No	ClinGen gnomAD
CA2074256 COSM3838417 COSM3838416 rs773374925	25	S>L	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA350058772 rs1399910598	25	S>P		No	ClinGen TOPMed
rs748385493 CA2074254	26	V>G		No	ClinGen ExAC gnomAD
rs145763126 CA2074255	26	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1338820531 CA350058745	27	Q>K		No	ClinGen TOPMed
rs778755901 CA2074253	28	T>A		No	ClinGen ExAC TOPMed gnomAD
CA63713160 rs889912047	30	C>R		No	ClinGen Ensembl
rs1222415261 CA350058712	30	C>Y		No	ClinGen gnomAD
rs376875747 CA63713153	31	Q>R		No	ClinGen ESP TOPMed gnomAD
rs1318758859 CA350057856	32	L>S		No	ClinGen gnomAD
rs1574603920 CA350057833	33	D>G		No	ClinGen Ensembl
CA350057691 rs1325198518	40	I>T		No	ClinGen gnomAD
CA350057679 rs1403402137	41	Q>*		No	ClinGen gnomAD
rs762072789 CA2074237	42	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA2074236 rs376672997	43	V>F		No	ClinGen ESP ExAC gnomAD
rs376672997 CA2074235	43	V>L		No	ClinGen ESP ExAC gnomAD
rs144139666 COSM3962256 COSM3962255 CA2074232	46	R>C	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs369410820 CA2074231	46	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA63710142 rs369410820	46	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA63710128 rs868385899	50	W>*		No	ClinGen Ensembl
CA63710126 rs868385899	50	W>C		No	ClinGen Ensembl
rs1385863218 CA350057457	52	A>D		No	ClinGen TOPMed gnomAD
CA2074229 rs531021062	52	A>P		No	ClinGen 1000Genomes ExAC gnomAD
rs780839376 CA2074228	53	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs201346934 CA350057447	53	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201346934 CA2074227	53	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs780839376 CA350057454	53	R>S		No	ClinGen ExAC TOPMed gnomAD
rs746645177 CA2074226	54	K>E		No	ClinGen ExAC gnomAD
rs1293469425 CA350057403	55	H>R		No	ClinGen gnomAD
CA2074224 rs755323368	56	S>C		No	ClinGen ExAC gnomAD
CA2074225 rs755323368	56	S>F		No	ClinGen ExAC gnomAD
rs1368499119 CA350057360	57	L>F		No	ClinGen gnomAD
rs1276892732 CA350057335	57	L>R		No	ClinGen gnomAD
CA63710105 rs981950876	58	S>P		No	ClinGen Ensembl
CA63710102 rs949157941	60	Q>H		No	ClinGen Ensembl
CA2074223 rs754214745	61	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA2074222 rs756599388	61	Q>L		No	ClinGen ExAC gnomAD
CA2074221 rs756599388	61	Q>R		No	ClinGen ExAC gnomAD
rs1308541447 CA350057222	63	S>F		No	ClinGen gnomAD
TCGA novel	64	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs528762923 CA2074218	64	Q>P		No	ClinGen 1000Genomes ExAC gnomAD
rs774580536 CA2074217	65	A>V		No	ClinGen ExAC gnomAD
CA350057178 rs1369840776	66	L>P		No	ClinGen gnomAD
TCGA novel	68	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1184884174 CA350057147	68	E>G		No	ClinGen gnomAD
CA350056953 rs745782926	78	P>A		No	ClinGen ExAC gnomAD
TCGA novel	78	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2074212 rs745782926	78	P>S		No	ClinGen ExAC gnomAD
CA350056910 rs1559317873	80	Q>L		No	ClinGen Ensembl
CA63710036 rs957662276	81	V>G		No	ClinGen TOPMed gnomAD
CA2074211 rs368526887	82	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs770438344 CA2074210	83	P>H		No	ClinGen ExAC TOPMed gnomAD
CA2074209 rs746525367	84	R>S		No	ClinGen ExAC gnomAD
CA350056834 rs1280964986	85	A>G		No	ClinGen gnomAD
CA350056843 rs1312919526	85	A>T		No	ClinGen gnomAD
CA350056832 rs1280964986	85	A>V		No	ClinGen gnomAD
CA2074208 rs777427910	86	P>A		No	ClinGen ExAC TOPMed gnomAD
rs184242013 CA2074207	86	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs979456662 CA350056805	88	L>F		No	ClinGen TOPMed gnomAD
rs979456662 CA63709977	88	L>I		No	ClinGen TOPMed gnomAD
CA2074205 rs780374558	89	T>I		No	ClinGen ExAC
rs372880670 CA63709960	91	S>R		No	ClinGen ESP TOPMed
CA2074203 rs201983397	91	S>R		No	ClinGen 1000Genomes ExAC
CA350056754 rs1297599696	92	L>F		No	ClinGen gnomAD
CA350056750 rs1023441233	92	L>H		No	ClinGen TOPMed gnomAD
CA63709942 rs1023441233	92	L>P		No	ClinGen TOPMed gnomAD
rs1012924844 CA350056723	94	T>M		No	ClinGen TOPMed
CA63709919 rs1012924844	94	T>R		No	ClinGen TOPMed
rs1468928567 CA350056715	95	T>I		No	ClinGen gnomAD
CA350056699 rs1160287252	96	M>I		No	ClinGen gnomAD
CA350056701 rs1412257931	96	M>R		No	ClinGen gnomAD
CA2074201 rs757301123	98	N>S		No	ClinGen ExAC TOPMed gnomAD
CA350056676 rs1369203980	98	N>Y		No	ClinGen TOPMed
rs923971430 CA63708253	100	K>Q		No	ClinGen TOPMed
CA2074182 rs375852360	105	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1411054746 CA350055903	106	Q>*		No	ClinGen TOPMed
CA2074181 rs777695645	107	L>F		No	ClinGen ExAC gnomAD
CA2074180 rs752932316	108	M>R		No	ClinGen ExAC TOPMed gnomAD
rs752932316 CA2074179	108	M>T		No	ClinGen ExAC TOPMed gnomAD
CA350055827 rs1288588242	109	P>A		No	ClinGen gnomAD
CA350055809 rs200127309	110	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200127309 CA2074178	110	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2074175 rs201045711	112	A>T	Variant assessed as Somatic; 4.645e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs760518172 CA2074174	112	A>V		No	ClinGen ExAC TOPMed gnomAD
rs771528809 CA2074172	113	A>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	114	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201993785 CA63708154	114	L>V		No	ClinGen 1000Genomes gnomAD
rs1489377894 CA350055630	117	L>I		No	ClinGen gnomAD
COSM3714113 rs1221725800 CA350055570 COSM3714114	119	G>E	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
rs56067462 CA2074169	122	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1029494329 CA63708129	122	P>S		No	ClinGen Ensembl
rs1265317477 CA350055491	124	S>P		No	ClinGen gnomAD
CA2074168 rs749032405	125	K>N		No	ClinGen ExAC gnomAD
CA2074167 rs200713304	127	R>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	127	R>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2074166 rs771372596	127	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs918553948 CA63708012	128	A>S		No	ClinGen TOPMed gnomAD
rs1256190647 CA350055243	129	L>I		No	ClinGen TOPMed gnomAD
rs1266192400 COSM1015469 CA350055226 COSM1015468	129	L>P	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1256190647 CA350055240	129	L>V		No	ClinGen TOPMed gnomAD
rs1320902843 CA350055097	136	N>S		No	ClinGen gnomAD
rs200720001 CA2074142	137	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200720001 CA2074143	137	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1472984639 CA350055065	138	R>K		No	ClinGen TOPMed
CA2074141 rs749429198	138	R>S		No	ClinGen ExAC gnomAD
rs1237451427 CA350055046	139	G>E		No	ClinGen gnomAD
COSM393996 COSM393995 CA63707287 rs560966818 CA2074140	139	G>R	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1335721253 CA350055019	141	Y>C		No	ClinGen gnomAD
CA350055029 rs1409695670	141	Y>H		No	ClinGen TOPMed
CA2074139 rs116768218	143	S>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs750236316 CA2074138	144	G>R		No	ClinGen ExAC gnomAD
COSM1204833 rs576749690 CA2074137 COSM1204832	146	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs376587365 CA2074135	146	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs376587365 COSM1530757 COSM1530758 CA2074134	146	R>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs576749690 CA2074136	146	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2074132 rs774959200	147	M>I		No	ClinGen ExAC TOPMed gnomAD
rs764960410 CA350054923	148	T>P		No	ClinGen ExAC gnomAD
CA2074131 rs764960410	148	T>S		No	ClinGen ExAC gnomAD
rs372283021 CA2074129	149	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs368477015 CA2074128	149	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs775028898 CA2074126	150	R>S		No	ClinGen ExAC gnomAD
rs1574602698 CA350054889	151	V>G		No	ClinGen Ensembl
rs201301748 CA2074125	151	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA350054816 rs1285366953	156	L>P		No	ClinGen gnomAD
CA2074122 rs114675847	157	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2074123 rs114675847	157	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs746142719 CA2074121	158	D>H		No	ClinGen ExAC gnomAD
CA63707073 rs541491610	160	Q>*		No	ClinGen TOPMed gnomAD
rs751461326 CA2074118	161	Q>L		No	ClinGen ExAC gnomAD
rs1412910304 CA350053470	162	I>N		No	ClinGen TOPMed
rs781420845 CA2074103	165	F>S		No	ClinGen ExAC gnomAD
rs746823277 CA2074101	166	V>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	167	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350053307 rs1475279165	169	S>N		No	ClinGen gnomAD
rs1269990851 CA350053291	170	R>C		No	ClinGen TOPMed gnomAD
CA2074099 rs141321104	170	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA350053219 rs1210171698	173	C>F		No	ClinGen TOPMed
CA350053197 rs1559315817	174	P>A		No	ClinGen Ensembl
rs1559315817 CA350053199	174	P>T		No	ClinGen Ensembl
rs113838785 CA2074097	175	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs113838785 CA2074096	175	V>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754576074 CA2074095	176	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs753490160 CA2074094	177	S>G		No	ClinGen ExAC
rs1400692453 CA350053156	177	S>N		No	ClinGen gnomAD
CA2074093 rs199745795	178	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201657349 CA2074092	179	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs372828749 CA2074091	179	T>N		No	ClinGen ESP ExAC gnomAD
CA2074090 rs372828749	179	T>S		No	ClinGen ESP ExAC gnomAD
rs200369556 CA2074087	180	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1344792064 CA350053096	180	R>H		No	ClinGen gnomAD
CA2074088 rs200369556	180	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2074085 rs556265646	182	C>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2074084 rs771150555	184	Q>*		No	ClinGen ExAC gnomAD
CA350052979 rs1559315781	185	G>E		No	ClinGen Ensembl
CA2074083 rs747303153	185	G>R		No	ClinGen ExAC gnomAD
rs766507351 CA2074067	186	V>E		No	ClinGen ExAC gnomAD
rs1421327018 CA350052533	190	A>E		No	ClinGen gnomAD
CA2074063 rs747906960	191	I>V		No	ClinGen ExAC gnomAD
CA63703134 rs923846808	194	E>K		No	ClinGen TOPMed
CA2074062 rs774276606	197	L>R		No	ClinGen ExAC gnomAD
rs768709218 CA2074061	198	S>F		No	ClinGen ExAC gnomAD
rs372309495 CA2074059	199	W>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA350052308 rs372309495	199	W>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA63703096 rs543274186	200	V>I		No	ClinGen TOPMed
CA2074056 rs780729109	203	E>*		No	ClinGen ExAC gnomAD
rs112735024 CA2074055	203	E>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2074054 rs753010908	204	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1246028977 CA350052172	204	P>S		No	ClinGen gnomAD
rs765661336 CA2074053	205	P>S		No	ClinGen ExAC TOPMed gnomAD
CA2074051 rs754392431	206	I>N		No	ClinGen ExAC gnomAD
CA63703062 rs911515813	206	I>V		No	ClinGen TOPMed gnomAD
CA350052049 rs1343946424	209	W>*		No	ClinGen gnomAD
COSM88170 CA2074048 rs200283597	211	P>L	central_nervous_system [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA350051999 rs1559315639	212	T>N		No	ClinGen Ensembl
rs1415417577 CA350052000	212	T>S		No	ClinGen TOPMed
rs774273085 CA350051934	215	R>G		No	ClinGen ExAC TOPMed gnomAD
rs768621091 CA2074044	215	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2074045 rs774273085	215	R>W		No	ClinGen ExAC TOPMed gnomAD
CA63703014 rs1017003617	217	S>T		No	ClinGen TOPMed
CA350051890 rs1335666102	218	A>P		No	ClinGen TOPMed
TCGA novel	220	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350051831 CA350051832 rs1484792329	221	R>S		No	ClinGen TOPMed gnomAD
CA63702992 rs959533428	222	V>A		No	ClinGen TOPMed gnomAD
CA350051824 rs959533428	222	V>G		No	ClinGen TOPMed gnomAD
rs775595996 COSM1204827 CA2074042 COSM1204826	223	T>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1288875926 CA350051793	225	P>L		No	ClinGen gnomAD
rs370880332 CA2074041	225	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2074039 rs200422382	227	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2074040 rs202213345	227	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1023738821 CA63702964	228	C>*		No	ClinGen TOPMed
CA2074038 rs756858192	228	C>R		No	ClinGen ExAC TOPMed gnomAD
rs746737207 CA2074037	228	C>Y		No	ClinGen ExAC gnomAD
CA350051722 rs1297996552	229	T>I		No	ClinGen TOPMed gnomAD
rs1297996552 CA350051724	229	T>S		No	ClinGen TOPMed gnomAD
CA350051701 rs1425807612	231	C>R		No	ClinGen gnomAD
rs1161692344 CA350051646	234	F>S		No	ClinGen gnomAD
rs755376881 CA2074035	235	P>L		No	ClinGen ExAC gnomAD
rs1172865125 CA350051636	236	I>V		No	ClinGen gnomAD
CA2074033 rs766895537	237	T>M		No	ClinGen ExAC gnomAD
CA350051614 rs1255053119	239	L>R		No	ClinGen TOPMed
rs1490803241 CA350051610	240	R>T		No	ClinGen gnomAD
VAR_050960 CA2073987 rs16838593	241	Y>C		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA350051252 rs16838593	241	Y>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2073988 rs752538223	241	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs1399827352 CA350051246	242	R>C		No	ClinGen gnomAD
COSM1404851 CA2073986 COSM1404852 rs183705947	242	R>H	Variant assessed as Somatic; 5.208e-05 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs183705947 CA63699602	242	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA350051239 rs1403571004	243	C>S		No	ClinGen gnomAD
CA2073984 rs770307108	245	K>R		No	ClinGen ExAC TOPMed gnomAD
rs766808603 CA2073982	247	L>V		No	ClinGen ExAC TOPMed gnomAD
rs747854989 CA350051205	248	N>K		No	ClinGen ExAC gnomAD
rs771718985 CA2073981	248	N>S		No	ClinGen ExAC gnomAD
CA2073979 rs369466188	249	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA350051201 rs1243348585	249	F>S		No	ClinGen gnomAD
CA2073978 rs770233978	252	C>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
CA63699557 rs963945311	253	Q>*		No	ClinGen TOPMed
CA350051170 rs1188070476	253	Q>H		No	ClinGen TOPMed
rs746316870 CA2073976	254	M>I		No	ClinGen ExAC gnomAD
TCGA novel	256	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781733180 CA2073975	257	L>*		No	ClinGen ExAC TOPMed gnomAD
rs1352011179 CA350051132	258	S>F		No	ClinGen gnomAD
CA350051135 rs1477293926	258	S>T		No	ClinGen TOPMed
CA2073974 rs376294616	259	G>D		No	ClinGen ESP ExAC gnomAD
rs1376317837 CA350051123	260	L>R		No	ClinGen gnomAD
rs373406102 CA2073972	264	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA2073969 rs764910729	268	S>C	Variant assessed as Somatic; 0.0002349 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA63699529 rs764910729	268	S>F		No	ClinGen ExAC TOPMed gnomAD
rs764910729 CA2073970	268	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs754837921 CA2073968	269	H>Y		No	ClinGen ExAC gnomAD
rs200782718 CA2073967	270	P>A		No	ClinGen 1000Genomes ExAC gnomAD
CA2073966 rs766356809	272	I>T		No	ClinGen ExAC TOPMed gnomAD
rs889276503 CA63699521	272	I>V		No	ClinGen TOPMed
CA350051011 rs1156787204	273	E>D		No	ClinGen gnomAD
CA2073964 rs772693044	274	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA350051006 rs1574599102	274	H>Y		No	ClinGen Ensembl
rs1051826675 CA63699517 COSM209737	275	C>Y	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs761419852 CA2073962	276	I>S		No	ClinGen ExAC gnomAD
rs761419852 CA2073963	276	I>T		No	ClinGen ExAC gnomAD
rs1184904008 CA350050976	276	I>V		No	ClinGen TOPMed gnomAD
CA350070710 rs1228264741	278	M>T		No	ClinGen gnomAD
rs761334464 CA2073945	280	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1217844560 CA350070636	281	M>L		No	ClinGen TOPMed gnomAD
rs1368455447 CA350070615	282	Q>E		No	ClinGen TOPMed gnomAD
rs916736102 CA63740288	282	Q>H		No	ClinGen TOPMed gnomAD
TCGA novel	285	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs375843014 CA350070488	287	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs201166130 CA2073943	287	L>P		No	ClinGen ExAC TOPMed gnomAD
CA2073944 rs375843014	287	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA350070346 rs1416965425	293	N>K		No	ClinGen gnomAD
rs571753658 CA2073941	294	N>S		No	ClinGen ExAC gnomAD
CA2073939 rs747488750	295	L>F		No	ClinGen ExAC gnomAD
CA350070257 rs1158815133	297	Q>E		No	ClinGen TOPMed
TCGA novel	297	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	299	R>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773886796 CA2073938	299	R>C		No	ClinGen ExAC TOPMed
rs773886796 CA350070177	299	R>G		No	ClinGen ExAC TOPMed
rs772233593 CA2073937	299	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1487807691 CA350070163	300	C>R		No	ClinGen TOPMed gnomAD
rs778939275 CA2073936	300	C>S		No	ClinGen ExAC gnomAD
CA2073935 rs778939275	300	C>Y		No	ClinGen ExAC gnomAD
CA350070143 rs1331226695	301	R>G		No	ClinGen TOPMed
rs764196378 CA63740239	301	R>K		No	ClinGen Ensembl
CA350070126 rs1205322461	302	K>E		No	ClinGen gnomAD
rs768920840 CA2073934	302	K>T		No	ClinGen ExAC TOPMed gnomAD
CA2073931 rs779791433	304	E>A		No	ClinGen ExAC gnomAD
rs978125378 CA63740228	304	E>K		No	ClinGen Ensembl
CA350069989 rs114709725	305	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2073929 rs114709725	305	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA350069963 rs781120785	306	A>G		No	ClinGen ExAC TOPMed gnomAD
CA350069986 rs1366827258	306	A>T		No	ClinGen gnomAD
COSM442195 CA2073928 COSM442194 rs781120785	306	A>V	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA63740166 rs60722121	308	R>S		No	ClinGen 1000Genomes ExAC gnomAD
rs201676491 CA2073925	309	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
rs879429074 CA63740159	312	L>P		No	ClinGen Ensembl
CA350069721 rs1244925415	313	D>G		No	ClinGen TOPMed
rs1179032871 CA350069734	313	D>H		No	ClinGen gnomAD
rs374635947 CA2073920	314	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs772714364 CA2073919	314	Q>P		No	ClinGen ExAC gnomAD
rs1471222487 CA350069507	321	P>S		No	ClinGen gnomAD
rs774478884 CA2073917	322	H>P		No	ClinGen ExAC gnomAD
rs774478884 CA350069489	322	H>R		No	ClinGen ExAC gnomAD
CA2073918 rs762297883	322	H>Y		No	ClinGen ExAC gnomAD
CA350069456 rs1461962506	323	H>L		No	ClinGen gnomAD
rs370297106 CA2073916	323	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA350069450 rs1207775010	324	A>T		No	ClinGen gnomAD
CA2073915 rs376262781	324	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA2073912 rs745666905	326	A>G		No	ClinGen ExAC gnomAD
TCGA novel	326	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745666905 CA350069393	326	A>V		No	ClinGen ExAC gnomAD
CA2073910 rs757203106	327	R>G		No	ClinGen ExAC TOPMed gnomAD
CA63722262 rs758472127	327	R>S		No	ClinGen Ensembl
CA350069388 rs1452823944	327	R>T		No	ClinGen gnomAD
CA2073911 rs757203106	327	R>W		No	ClinGen ExAC TOPMed gnomAD
CA2073887 rs377442544	328	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA2073885 rs754667727	329	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA350063848 rs1423027613	330	K>*		No	ClinGen TOPMed
rs1559306176 CA350063822	332	Q>*		No	ClinGen Ensembl
CA350063814 rs1559306172	332	Q>H		No	ClinGen Ensembl
CA350063777 rs1490710958	335	Q>R		No	ClinGen gnomAD
rs369087472 COSM1614200 CA2073883 COSM1614201	337	K>E	liver breast [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA2073882 rs767880509	337	K>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	338	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1307721354 CA350063741	338	D>H		No	ClinGen gnomAD
CA350063700 rs1220909185	341	Q>*		No	ClinGen gnomAD
CA350063683 rs1339086605	342	A>V		No	ClinGen gnomAD
rs1319482329 CA350063671	343	I>M		No	ClinGen TOPMed
TCGA novel	344	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2073881 rs757582895	346	S>A		No	ClinGen ExAC gnomAD
CA2073879 COSM3407512 rs180718219 COSM3407511	347	Q>*	central_nervous_system [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
TCGA novel	348	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775532913 CA2073878	348	E>K		No	ClinGen ExAC TOPMed gnomAD
CA2073877 rs775532913	348	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1481366430 CA350063599	350	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs765348389 CA2073876	352	C>R		No	ClinGen ExAC gnomAD
rs139354756 CA2073875	353	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2073874 rs139354756	353	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1306355 COSM1306356 rs1476740060 CA350063564	353	R>L	urinary_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1476740060 CA350063566	353	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2073873 rs554984978	356	T>K		No	ClinGen 1000Genomes ExAC gnomAD
CA350063514 rs1481395452	358	I>F		No	ClinGen TOPMed gnomAD
CA63722104 rs901162251	359	H>N		No	ClinGen TOPMed
rs901162251 CA63722097	359	H>Y		No	ClinGen TOPMed
CA63722092 rs915037304	362	K>*		No	ClinGen TOPMed gnomAD
rs538223867 CA2073872	363	T>N		No	ClinGen 1000Genomes ExAC gnomAD
CA350063442 rs1473358183	364	N>S		No	ClinGen gnomAD
rs909747679 CA63722084	365	Q>*		No	ClinGen TOPMed gnomAD
rs909747679 CA350063431	365	Q>K		No	ClinGen TOPMed gnomAD
rs569423152 COSM442193 COSM442192 CA350063405	366	D>E	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs983928006 CA63722066	369	W>*		No	ClinGen gnomAD
CA2073868 rs748157159	369	W>R		No	ClinGen ExAC TOPMed gnomAD
CA350063369 rs1299263564	370	T>A		No	ClinGen gnomAD
CA2073867 rs778547728	370	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1414118455 CA350063343	372	L>P		No	ClinGen TOPMed
CA2073865 rs201745628	373	Q>R		No	ClinGen 1000Genomes ExAC TOPMed
rs1333671158 CA350063324	374	Q>R		No	ClinGen gnomAD
rs1464281890 CA350063316	375	I>T		No	ClinGen gnomAD
rs757571480 CA2073863	376	R>I		No	ClinGen ExAC TOPMed gnomAD
COSM1404847 CA2073864 COSM1404848 rs757571480	376	R>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA350063307 rs369023527	377	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs369023527 CA2073860	377	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA2073861 rs372031421	377	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA350063301 rs1197545531	378	D>G		No	ClinGen gnomAD
CA2073859 rs753242412	379	L>P		No	ClinGen ExAC gnomAD
rs376857940 CA2073858	380	Q>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs376857940 CA2073857	380	Q>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA63720243 rs372401712	381	A>S		No	ClinGen ESP gnomAD
rs745582112 CA2073840	382	R>K		No	ClinGen ExAC gnomAD
CA2073839 rs777967789	382	R>S		No	ClinGen ExAC TOPMed gnomAD
CA2073838 rs758795561	384	Q>K		No	ClinGen ExAC
CA2073836 rs367667719	385	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	386	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754984789 CA350063159	387	G>C		No	ClinGen ExAC TOPMed gnomAD
rs754984789 CA2073835	387	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1362395262 CA350063146	388	P>S		No	ClinGen gnomAD
rs753862843 CA2073834	389	S>A		No	ClinGen ExAC TOPMed gnomAD
CA350063107 rs1339765044	391	S>F		No	ClinGen TOPMed
rs760788997 CA2073832	392	S>F		No	ClinGen ExAC gnomAD
CA350063100 rs1559305380	392	S>T		No	ClinGen Ensembl
CA350063044 rs1471622825	395	N>K		No	ClinGen gnomAD
rs1574587361 CA350063037	396	V>E		No	ClinGen Ensembl
CA2073830 rs750701014	396	V>M		No	ClinGen ExAC
CA2073829 rs373862091	397	G>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	397	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2073828 rs551224396	398	N>D		No	ClinGen 1000Genomes ExAC gnomAD
CA2073827 rs774358927	398	N>K		No	ClinGen ExAC TOPMed gnomAD
CA63720130 rs370160378	400	V>A		No	ClinGen ESP TOPMed gnomAD
CA2073826 rs768706899	400	V>I		No	ClinGen ExAC TOPMed gnomAD
rs768706899 CA350062987	400	V>L		No	ClinGen ExAC TOPMed gnomAD
CA2073825 rs367901418	401	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1254872155 CA350062978	401	D>H		No	ClinGen TOPMed
rs774840562 CA2073824	402	H>R		No	ClinGen ExAC TOPMed gnomAD
CA350062941 rs1230202404	403	S>C		No	ClinGen gnomAD
TCGA novel	403	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1559305352 CA350062923	405	T>A		No	ClinGen Ensembl
rs1424787848 CA350062915	405	T>I		No	ClinGen gnomAD
CA2073822 rs143345015	407	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA350062899 rs1283327235	407	K>Q		No	ClinGen gnomAD
CA350062873 rs1296314439	408	V>A		No	ClinGen TOPMed gnomAD
rs551795566 CA350062875	408	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2073819 rs551795566	408	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs551795566 CA2073820	408	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	409	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2073817 rs376810245	413	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs754421665 CA2073815	415	L>*		No	ClinGen ExAC TOPMed gnomAD
rs779969051 CA2073814	416	Q>H		No	ClinGen ExAC gnomAD
CA350062747 rs1389639777	416	Q>P		No	ClinGen gnomAD
CA350062719 rs1559305335	417	I>F		No	ClinGen Ensembl
CA2073813 rs756252761	417	I>M		No	ClinGen ExAC gnomAD
rs1338117159 CA350062685	419	N>D		No	ClinGen TOPMed
CA63720041 rs963298174	419	N>K		No	ClinGen gnomAD
CA2073812 rs750551045	420	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1477799612 CA350062605	421	T>S		No	ClinGen gnomAD
CA350062529 rs1223885768	424	A>P		No	ClinGen gnomAD
CA350062471 rs184887506	427	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs184887506 CA2073810	427	G>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000709897 rs534558800	428	E>missing		No	ClinVar dbSNP
CA2073808 rs764029287	428	E>*		No	ClinGen ExAC gnomAD
rs1276103264 CA350062411	428	E>D		No	ClinGen gnomAD
rs775527442 CA2073806	429	P>H		No	ClinGen ExAC TOPMed gnomAD
rs775527442 CA2073805	429	P>L		No	ClinGen ExAC TOPMed gnomAD
rs775527442 CA350062404	429	P>R		No	ClinGen ExAC TOPMed gnomAD
CA350062409 rs1217863446	429	P>S		No	ClinGen gnomAD
CA63719982 rs1029288403	432	K>E		No	ClinGen TOPMed
rs759100949 CA2073803	434	D>G		No	ClinGen ExAC gnomAD
CA350062236 rs1329187384	436	V>A		No	ClinGen gnomAD
rs776200170 CA2073802	436	V>I		No	ClinGen ExAC gnomAD
CA63719955 rs907394572	437	D>E		No	ClinGen gnomAD
CA350062225 rs1466884106	437	D>N		No	ClinGen gnomAD
rs1287012094 CA350062172	439	S>C		No	ClinGen TOPMed
CA350062095 rs1487606124	442	S>R		No	ClinGen TOPMed
CA350062041 rs1574587220	444	T>I		No	ClinGen Ensembl
CA2073799 rs774680110	444	T>S		No	ClinGen ExAC gnomAD
CA2073796 rs749721465	448	H>R		No	ClinGen ExAC gnomAD
rs1010292962 CA63719928	448	H>Y		No	ClinGen TOPMed gnomAD
rs780621448 CA2073795	449	A>V		No	ClinGen ExAC TOPMed gnomAD
rs559507280 CA2073793	450	L>R		No	ClinGen 1000Genomes ExAC gnomAD
rs756078816 CA2073794	450	L>V		No	ClinGen ExAC gnomAD
CA2073792 rs377396036	451	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs377396036 CA350061871	451	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA2073791 rs565968460	451	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs751869831 CA2073790	455	S>*		No	ClinGen ExAC gnomAD
CA2073788 rs758233698	458	T>I		No	ClinGen ExAC gnomAD
CA350061607 rs1309393883	459	T>A		No	ClinGen gnomAD
rs1448451165 CA350061591	460	L>W		No	ClinGen TOPMed gnomAD
rs745324898 CA63719838	462	S>G		No	ClinGen TOPMed gnomAD
TCGA novel	462	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765226772 CA2073786	464	R>S		No	ClinGen ExAC gnomAD
CA350061497 rs373029999	465	A>S		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA2073785 COSM442190 rs373029999 COSM442191	465	A>T	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC gnomAD
CA63719810 rs4482460	466	Q>H		No	ClinGen Ensembl
CA2073784 rs776107210	467	S>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA350061442 rs1384711413	469	T>A		No	ClinGen TOPMed
CA2073782 rs368849506	472	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA350061343 rs2115591	474	Q>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1306496651 CA350061325	474	Q>H		No	ClinGen TOPMed
CA2073781 VAR_050961 rs2115591	474	Q>K		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	478	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772885123 CA2073780	479	A>T		No	ClinGen ExAC gnomAD
rs1483483160 CA350061209	481	P>A		No	ClinGen gnomAD
CA350061203 rs749664844	481	P>L		No	ClinGen ExAC TOPMed gnomAD
CA2073778 rs749664844	481	P>R		No	ClinGen ExAC TOPMed gnomAD
CA2073777 rs79969810	482	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs79969810 CA2073776	482	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1574587154 CA350061153	484	Q>*		No	ClinGen Ensembl
TCGA novel	484	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1241763469 CA350061091	486	G>E		No	ClinGen gnomAD
rs1351051893 CA350061082	487	L>P		No	ClinGen gnomAD
rs543256738 CA63719745	489	Q>P		No	ClinGen 1000Genomes
CA63719727 rs779388062	490	D>H		No	ClinGen Ensembl
rs747178369 CA2073772	494	M>I		No	ClinGen ExAC TOPMed gnomAD
rs757441260 CA2073773	494	M>T		No	ClinGen ExAC gnomAD
rs781388861 CA2073774	494	M>V		No	ClinGen ExAC gnomAD
CA2073771 rs778155558	497	A>S		No	ClinGen ExAC gnomAD
TCGA novel	497	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350060874 rs1298854220	498	E>Q		No	ClinGen gnomAD
rs758063295 CA2073770	499	M>I		No	ClinGen ExAC TOPMed gnomAD
CA350060034 rs1183994459	502	P>L		No	ClinGen TOPMed
rs1001245833 CA63719674	502	P>T		No	ClinGen TOPMed
CA350060022 rs1378560453	503	A>T		No	ClinGen TOPMed
CA2073768 rs752534887	503	A>V		No	ClinGen ExAC gnomAD
CA63719642 rs867008348	505	A>T		No	ClinGen Ensembl
CA350059966 rs1191006853	506	A>T		No	ClinGen TOPMed gnomAD
CA350059926 rs1179920970	507	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	508	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350059868 rs1482871872	509	K>E		No	ClinGen gnomAD
rs1218154565 CA350059699	513	G>C		No	ClinGen TOPMed gnomAD
CA350059654 rs1559305138	515	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	515	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760204075 CA2073762	517	E>*		No	ClinGen ExAC TOPMed gnomAD
CA350059563 rs1323171805	517	E>D		No	ClinGen gnomAD
CA2073761 rs750007876	518	R>G		No	ClinGen ExAC gnomAD
rs1396719685 CA350059513	519	K>N		No	ClinGen TOPMed
CA350059506 rs1227006544	520	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA350059449 rs1392779264	521	E>A		No	ClinGen TOPMed
rs1355381574 CA350059383	524	E>V		No	ClinGen TOPMed gnomAD
rs767190804 CA2073760	525	E>K		No	ClinGen ExAC gnomAD
CA350059340 rs1247460929	526	E>*		No	ClinGen gnomAD
rs761427497 CA2073759	529	E>D		No	ClinGen ExAC TOPMed gnomAD
CA350059272 rs1358630102	529	E>K		No	ClinGen gnomAD
CA2073758 rs775899210	530	L>P		No	ClinGen ExAC gnomAD
TCGA novel	533	K>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	533	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs13408906 CA350059133	534	L>F		No	ClinGen gnomAD
rs13408906 CA63719566	534	L>I		No	ClinGen gnomAD
CA2073756 rs760078404	534	L>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
rs777300003 CA350059077	535	M>L		No	ClinGen ExAC TOPMed gnomAD
rs201792178 CA2073754	535	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2073755 rs777300003 COSM209736	535	M>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs949975065 CA63719528	536	D>E		No	ClinGen TOPMed gnomAD
CA63719526 rs748615553	539	N>Y		No	ClinGen Ensembl
CA350058929 rs777783195	540	L>I		No	ClinGen ExAC TOPMed gnomAD
rs777783195 CA2073753	540	L>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	541	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200349172 CA2073751	542	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA350056471 rs1299328126	545	G>D		No	ClinGen gnomAD
CA2073747 rs753729368	545	G>S		No	ClinGen ExAC TOPMed gnomAD
CA350056465 rs1377993167	546	P>A		No	ClinGen gnomAD
CA2073732 rs748364166	546	P>L		No	ClinGen ExAC TOPMed gnomAD
rs748364166 CA350056460	546	P>R		No	ClinGen ExAC TOPMed gnomAD
CA2073731 rs779029478	547	E>K		No	ClinGen ExAC gnomAD
CA2073730 rs768386139	548	S>F		No	ClinGen ExAC TOPMed gnomAD
rs897311429 CA63709953	548	S>T		No	ClinGen TOPMed
rs749075736 CA2073729	549	S>L		No	ClinGen ExAC gnomAD
CA2073728 rs779877571	551	N>S		No	ClinGen ExAC gnomAD
CA2073727 rs201045992	552	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1171082525 CA350056394	552	M>V		No	ClinGen gnomAD
CA63709924 rs1005706328	553	D>N		No	ClinGen TOPMed
rs1372638493 CA350056364	554	L>P		No	ClinGen gnomAD
CA350056351 rs1199673688	555	Y>*		No	ClinGen TOPMed gnomAD
rs1382947640 CA350056361	555	Y>N		No	ClinGen TOPMed
rs1265557129 CA350056283	558	A>G		No	ClinGen gnomAD
rs1239661791 COSM573154 COSM573155 CA350056244	560	R>*	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs750363921 CA2073726	560	R>Q		No	ClinGen ExAC gnomAD
CA63709909 rs888240848	561	V>M		No	ClinGen TOPMed gnomAD
CA350056181 rs1201456196	564	A>D		No	ClinGen gnomAD
rs201639314 CA350056183	564	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201639314 CA2073725	564	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2073724 rs756737570	567	A>T		No	ClinGen ExAC gnomAD
rs1254313301 CA350056017	570	D>E		No	ClinGen gnomAD
CA2073723 rs751165476	571	Q>*		No	ClinGen ExAC gnomAD
rs1055285821 CA63709890	571	Q>R		No	ClinGen TOPMed
rs1354681920 CA350055965	572	I>N		No	ClinGen gnomAD
CA350055890 rs373954592	573	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1311813445 CA350055900	573	A>P		No	ClinGen TOPMed gnomAD
rs1311813445 COSM260626 COSM260627 CA350055896	573	A>S	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs373954592 CA2073722	573	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA350055874 rs1334884646	574	L>V		No	ClinGen gnomAD
rs373373737 CA2073721	575	P>S		No	ClinGen ExAC gnomAD
CA350055805 rs1400041412	576	N>H		No	ClinGen gnomAD
rs754242640 CA2073720	576	N>S		No	ClinGen ExAC TOPMed gnomAD
rs766902018 CA2073719	578	K>E		No	ClinGen ExAC gnomAD

No associated diseases with A2CJ06

3 regional properties for A2CJ06

Type	Name	Position	InterPro Accession
domain	Zinc finger, ZZ-type	222 - 279	IPR000433
domain	EF-hand domain, type 1	8 - 118	IPR015153
domain	EF-hand domain, type 2	124 - 217	IPR015154

Functions

		Description
EC Number
Subcellular Localization	Cell membrane
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
synapse	The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane.

1 GO annotations of molecular function

Name	Definition
zinc ion binding	Binding to a zinc ion (Zn).

1 GO annotations of biological process

Name	Definition
synaptic signaling	Cell-cell signaling to, from or within a synapse.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q13474	DRP2	Dystrophin-related protein 2	Homo sapiens (Human)	PR
Q05AA6	Drp2	Dystrophin-related protein 2	Mus musculus (Mouse)	PR
Q9EPA0	Drp2	Dystrophin-related protein 2	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MDPDKQDALN	SIENSIYRTA	FKLQSVQTLC	QLDLIDSSLI	QQVLLRPSFW	EARKHSLSVQ
70	80	90	100	110	120
QLSQALQELF	QKAREENPGQ	VHPRAPELTL	SLLTTMYNSK	GTGFLQLMPA	AAALITLSGD
130	140	150	160	170	180
SPLSKYRALF	QLYAENSRGG	YDSGPRMTRR	VLRKLLTDLQ	QIPTFVGESR	ALCPVESATR
190	200	210	220	230	240
SCFQGVLSPA	IKEEKFLSWV	QSEPPILLWL	PTCHRLSAAE	RVTHPARCTL	CRTFPITGLR
250	260	270	280	290	300
YRCLKCLNFD	ICQMCFLSGL	HSKSHQKSHP	VIEHCIQMSA	MQNTKLLFRT	LRNNLLQGRC
310	320	330	340	350	360
RKKEAARRQQ	LLDQVNPKGV	PHHAQARLLK	KQLNQYKDKL	QAIYTSQEER	ICRFETRIHK
370	380	390	400	410	420
LKTNQDSLWT	KLQQIRRDLQ	ARLQPPGPSS	SSFQNVGNKV	DHSSTEKVPK	GGDYLQIKNA
430	440	450	460	470	480
TEDASTGEPL	PKLDEVDRSH	RSHTNAEHAL	RNPESPETTL	HSTRAQSQTQ	KMPQKVISAL
490	500	510	520	530	540
PSYQEGLKQD	IPKMVPAEMS	SPALAAVEKK	EAGNIKERKD	ELEEEELQEL	LSKLMDAFNL
550	560	570
ETPSGPESSV	NMDLYSGAQR	VCRAFSALVD	QIALPNLK