AiPD: Autoinhibited Protein Database

Q9HCH5

Gene name	SYTL2 (KIAA1597, SGA72M, SLP2, SLP2A)
Protein name	Synaptotagmin-like protein 2
Names	Breast cancer-associated antigen SGA-72M, Exophilin-4
Species	Homo sapiens (Human)
KEGG Pathway	hsa:54843
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

354-432 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

354-432 (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

5 structures for Q9HCH5

Entry ID	Method	Resolution	Chain	Position	Source
3BC1	X-ray	180 A	B/F	10-62	PDB
7OPP	X-ray	232 A	A/C	5-32	PDB
7OPQ	X-ray	223 A	A/B	5-32	PDB
7OPR	X-ray	232 A	A/B	5-32	PDB
AF-Q9HCH5-F1	Predicted				AlphaFoldDB

819 variants for Q9HCH5

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs773445153 CA6214914	3	D>E		No	ClinGen ExAC gnomAD
CA6214915 rs369267760	3	D>N		No	ClinGen ESP ExAC gnomAD
TCGA novel	5	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6214913 rs772001355	7	L>P		No	ClinGen ExAC TOPMed gnomAD
rs748402979 CA6214912	8	T>A		No	ClinGen ExAC gnomAD
CA381992092 rs1430782799	8	T>N		No	ClinGen gnomAD
rs769122808 CA6214910	13	E>K		No	ClinGen ExAC gnomAD
rs749646740 CA6214909	14	A>P		No	ClinGen ExAC gnomAD
CA6214908 rs780577185	16	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1419418103 CA381992035	16	M>T		No	ClinGen TOPMed
rs914783599 CA225288619	16	M>V		No	ClinGen TOPMed
CA381992024 rs1266556962	17	K>N		No	ClinGen TOPMed gnomAD
rs750890771 CA6214906	21	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs149582759 CA6214907	21	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs777270288 CA6214905	22	D>N		No	ClinGen ExAC TOPMed gnomAD
CA6214904 rs374660440	24	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1565993453 CA381991968	27	R>G		No	ClinGen Ensembl
COSM175701 CA6214900 rs753660701	29	E>K	large_intestine Variant assessed as Somatic; 4.649e-05 impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA6214901 rs753660701	29	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA225288585 rs201770370	30	E>G		No	ClinGen gnomAD
CA381991936 rs1283170635	31	E>D		No	ClinGen gnomAD
TCGA novel	32	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766225571 CA225288584	33	V>F		No	ClinGen ExAC TOPMed gnomAD
rs766225571 CA6214899	33	V>I		No	ClinGen ExAC TOPMed gnomAD
CA381991919 rs1306487034	34	R>I		No	ClinGen gnomAD
rs750442544 CA6214878	34	R>S		No	ClinGen ExAC gnomAD
rs1460105379 CA381990230	37	P>R		No	ClinGen gnomAD
TCGA novel	40	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381990160 rs1242679266	41	K>N		No	ClinGen TOPMed gnomAD
rs951528343 CA225281339	42	D>N		No	ClinGen Ensembl
rs1312360894 CA381990140	43	D>N		No	ClinGen TOPMed
CA381990097 rs138298146	45	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	47	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381990064 rs1228777306	48	N>H		No	ClinGen gnomAD
CA6214876 rs761991062	49	M>I		No	ClinGen ExAC gnomAD
rs1331903733 CA381990041	49	M>T		No	ClinGen gnomAD
CA381990045 rs1565977411	49	M>V		No	ClinGen Ensembl
CA381990013 rs1358340980	51	G>D		No	ClinGen gnomAD
rs918652318 CA225281316	53	W>*		No	ClinGen TOPMed gnomAD
CA6214873 rs768845313	55	Y>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	55	Y>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	57	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6214872 rs147507187	57	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA381989909 rs1460821509	58	K>Q		No	ClinGen TOPMed
CA6214871 rs770202412	58	K>T		No	ClinGen ExAC gnomAD
CA6214870 rs746230800	59	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	62	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381989815 rs1240166787	62	H>R		No	ClinGen TOPMed
CA6214866 rs778315655	67	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs747497621 CA6214867	67	H>R		No	ClinGen ExAC TOPMed gnomAD
rs771322879 CA6214868	67	H>Y		No	ClinGen ExAC gnomAD
rs1443072013 CA381989731	68	G>S		No	ClinGen gnomAD
CA6214864 rs748958428	69	A>T		No	ClinGen ExAC TOPMed gnomAD
rs368491399 CA6214863	70	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA225281273 rs965497687	71	I>L		No	ClinGen Ensembl
rs750151340 CA6214861	72	I>V		No	ClinGen ExAC gnomAD
CA381989576 rs1452623381	74	A>T		No	ClinGen TOPMed gnomAD
rs937586863 CA225281242	76	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA381989519 rs377321313	76	M>L		No	ClinGen ExAC TOPMed gnomAD
rs757174726 CA6214859	76	M>R		No	ClinGen ExAC gnomAD
CA6214860 rs377321313	76	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA381989484 rs1451167377	77	R>K		No	ClinGen TOPMed
rs751449426 CA6214858	78	K>M		No	ClinGen ExAC gnomAD
rs534450850 CA6214856	81	P>H		No	ClinGen ExAC gnomAD
rs534450850 CA6214857	81	P>L		No	ClinGen ExAC gnomAD
CA381989335 rs1378521166	82	Q>H		No	ClinGen TOPMed
rs374322487 CA6214853	83	I>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA6214854 rs374322487	83	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs780582062 CA225281174	83	I>V		No	ClinGen Ensembl
CA381989318 rs1278541443	84	A>P		No	ClinGen TOPMed
CA6214835 rs776842586	85	A>V		No	ClinGen ExAC gnomAD
CA381988719 rs1252996647	86	E>K		No	ClinGen gnomAD
CA225279260 rs988288130	87	Q>R		No	ClinGen TOPMed
CA225279242 rs1024310098	88	S>G		No	ClinGen Ensembl
rs1183821447 CA381988677	88	S>T		No	ClinGen TOPMed gnomAD
CA381988658 rs1333783111	89	K>R		No	ClinGen TOPMed
rs368330801 CA6214833	91	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1250380311 CA381988604	92	E>D		No	ClinGen gnomAD
rs773658113 CA6214832	93	N>D		No	ClinGen ExAC gnomAD
CA6214831 rs772673633	94	G>R		No	ClinGen ExAC gnomAD
rs762600720 CA381988580	95	A>P		No	ClinGen ExAC TOPMed
CA6214830 rs762600720	95	A>S		No	ClinGen ExAC TOPMed
rs762600720 CA381988578	95	A>T		No	ClinGen ExAC TOPMed
rs928080227 CA225279205	97	E>Q		No	ClinGen TOPMed
rs1260636839 CA381988540	98	S>T		No	ClinGen gnomAD
rs200469060 CA6214829	99	W>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA381988515 rs1329768389	100	V>A		No	ClinGen gnomAD
rs969457499 CA225279202	102	N>D		No	ClinGen TOPMed
CA381988498 rs1290041647	102	N>T		No	ClinGen gnomAD
rs143167131 CA225279187	103	V>G		No	ClinGen ESP TOPMed gnomAD
CA6214828 rs769363299	103	V>I		No	ClinGen ExAC gnomAD
rs745520589 CA381988484	104	N>D		No	ClinGen ExAC gnomAD
CA6214827 rs745520589	104	N>H		No	ClinGen ExAC gnomAD
CA381988465 rs1200626089	105	K>R		No	ClinGen TOPMed
CA381988459 rs1360981952	106	D>N		No	ClinGen gnomAD
CA381988429 rs1591860723	108	F>C		No	ClinGen Ensembl
CA381988409 rs1469800744	110	P>R		No	ClinGen gnomAD
rs1174284242 CA381988415	110	P>S		No	ClinGen TOPMed gnomAD
rs559241179 CA6214825	111	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA225279173 rs1027605431	112	E>G		No	ClinGen TOPMed
CA381988396 rs1184150295	112	E>Q		No	ClinGen TOPMed
CA6214822 rs370502911	115	G>D		No	ClinGen ESP ExAC gnomAD
CA6214823 rs544117089	115	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6214819 rs755023087	116	V>A		No	ClinGen ExAC gnomAD
rs377404316 CA6214820	116	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1202466784 CA381988324	119	E>A		No	ClinGen gnomAD
CA381988289 rs1230416328	121	E>D		No	ClinGen TOPMed gnomAD
rs647912 CA381988263	122	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766616461 CA6214817	123	D>E		No	ClinGen ExAC gnomAD
CA381988186 rs1236747969	126	P>L		No	ClinGen TOPMed gnomAD
rs1393489238 CA381988187	126	P>S		No	ClinGen TOPMed
CA6214816 rs201389700	127	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA381988165 rs1313089913	128	S>G		No	ClinGen gnomAD
CA6214814 rs767943340	129	P>L		No	ClinGen ExAC gnomAD
rs750792115 CA6214815	129	P>T		No	ClinGen ExAC gnomAD
rs774941415 CA6214812	130	S>I		No	ClinGen ExAC gnomAD
rs1591822537 CA381987369	131	S>F		No	ClinGen Ensembl
CA225272056 rs373478538	132	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA381987363 rs373478538	132	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA6214791 rs373478538	132	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs772790788 CA381987359	133	V>L		No	ClinGen ExAC TOPMed gnomAD
rs772790788 CA6214789	133	V>M		No	ClinGen ExAC TOPMed gnomAD
rs771908801 CA6214788	134	V>E		No	ClinGen ExAC gnomAD
CA6214787 rs17744245	137	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA225272018 rs1012803865	139	S>I		No	ClinGen TOPMed
CA381987308 rs1290683444	141	I>T		No	ClinGen gnomAD
CA225271944 rs35522468	143	M>T		No	ClinGen Ensembl
rs768614283 CA6214785	143	M>V		No	ClinGen ExAC gnomAD
CA6214784 rs749130411	145	Q>*		No	ClinGen ExAC gnomAD
CA381987260 rs1225304625	145	Q>R		No	ClinGen gnomAD
rs1407244085 CA381987212	148	T>I		No	ClinGen TOPMed gnomAD
rs746151561 CA6214781	149	R>G		No	ClinGen ExAC gnomAD
rs1001638721 CA225271887	149	R>K		No	ClinGen Ensembl
CA381987186 rs1302855297	150	K>N		No	ClinGen gnomAD
CA225271885 rs866728491	151	P>L		No	ClinGen Ensembl
rs781560751 CA6214780	152	N>S		No	ClinGen ExAC gnomAD
CA381987155 rs1165704500	153	V>L		No	ClinGen gnomAD
CA6214779 rs757738133	155	P>S		No	ClinGen ExAC gnomAD
CA381987117 rs1192315113	156	E>G		No	ClinGen TOPMed gnomAD
rs374756400 CA6214760	158	R>G		No	ClinGen ESP ExAC gnomAD
rs374756400 CA6214759	158	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA381986962 rs757578531	159	K>N		No	ClinGen ExAC gnomAD
rs778208145 CA6214756	161	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs778208145 CA6214757	161	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1263032980 CA381986952	161	P>T		No	ClinGen gnomAD
rs1278075492 CA381986944	162	F>C		No	ClinGen gnomAD
CA6214754 rs753301474	163	N>I		No	ClinGen ExAC gnomAD
CA6214753 rs149057573	164	S>I		No	ClinGen ESP ExAC gnomAD
CA381986930 rs149057573	164	S>T		No	ClinGen ESP ExAC gnomAD
CA381986918 rs1338190102	166	K>R		No	ClinGen TOPMed gnomAD
rs1245432325 CA381986902	168	P>R		No	ClinGen Ensembl
COSM415710 CA6214750 rs749910032	172	S>L	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1306533218 CA381986846	176	T>I		No	ClinGen TOPMed
rs1469874158 CA381986831	178	N>K		No	ClinGen gnomAD
rs1386073507 CA381986829	179	E>K		No	ClinGen gnomAD
CA6214745 rs762651304	180	Q>*		No	ClinGen ExAC gnomAD
CA381986821 rs762651304	180	Q>K		No	ClinGen ExAC gnomAD
rs775539389 CA6214744	180	Q>R		No	ClinGen ExAC gnomAD
CA381986811 rs1282663779	181	S>*		No	ClinGen gnomAD
CA381986815 rs1449228772 COSM691237	181	S>T	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA225270760 rs990146387	182	K>I		No	ClinGen TOPMed
CA381986798 rs1591817331	183	N>S		No	ClinGen Ensembl
CA6214742 rs367643817	186	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs771070470 CA6214740	187	G>D		No	ClinGen ExAC TOPMed gnomAD
CA6214738 rs375531733	191	T>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA381986739 rs1276190501	192	S>*		No	ClinGen TOPMed
CA381986742 rs1317442740	192	S>P		No	ClinGen gnomAD
CA6214737 rs748426504 CA381986723	194	E>D		No	ClinGen ExAC gnomAD
CA381985961 rs1300357728	195	D>E		No	ClinGen TOPMed gnomAD
CA6214717 rs746616417	195	D>G		No	ClinGen ExAC TOPMed gnomAD
CA381985963 rs746616417	195	D>V		No	ClinGen ExAC TOPMed gnomAD
CA381985954 rs1197696815	196	E>G		No	ClinGen gnomAD
rs1377746043 CA381985869	200	S>*		No	ClinGen gnomAD
CA6214714 rs202176368	203	K>E		No	ClinGen 1000Genomes ExAC gnomAD
rs749808235 CA6214713	203	K>M		No	ClinGen ExAC gnomAD
CA381985815 rs749808235	203	K>T		No	ClinGen ExAC gnomAD
TCGA novel	204	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6214712 rs780525754	205	T>A		No	ClinGen ExAC gnomAD
CA6214711 rs372274810	206	V>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA6214710 rs372274810	206	V>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA6214708 rs146760470 COSM1605313	207	A>T	liver [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1404072715 CA381985740	208	D>G		No	ClinGen TOPMed gnomAD
rs1278444690 CA381985680	211	I>M		No	ClinGen TOPMed
CA225269059 rs943789739	212	Q>*		No	ClinGen Ensembl
CA6214706 rs35751209	212	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA381985634 rs1430164694	214	L>S		No	ClinGen TOPMed gnomAD
CA381985626 rs1303599667	215	E>K		No	ClinGen TOPMed
TCGA novel	217	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1161537524 CA381985561	218	K>M		No	ClinGen gnomAD
CA6214704 rs753898179	218	K>N		No	ClinGen ExAC gnomAD
CA6214703 rs562648188 CA6214702	219	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6214701 rs773185264	220	T>I		No	ClinGen ExAC TOPMed gnomAD
CA225269036 rs968940565	220	T>P		No	ClinGen TOPMed gnomAD
rs761944453 CA6214699	222	P>Q		No	ClinGen ExAC gnomAD
CA6214700 rs767591591	222	P>S		No	ClinGen ExAC gnomAD
rs774498151 CA6214698	223	G>A		No	ClinGen ExAC TOPMed gnomAD
CA381985479 rs774498151	223	G>D		No	ClinGen ExAC TOPMed gnomAD
CA381985489 rs1178592601	223	G>S		No	ClinGen TOPMed gnomAD
rs1231867657 CA381985457	225	S>L		No	ClinGen gnomAD
rs1182490764 CA381985380	229	Q>H		No	ClinGen gnomAD
CA6214695 rs749622117	231	K>T		No	ClinGen ExAC TOPMed gnomAD
rs776027389 CA6214694	232	A>V		No	ClinGen ExAC gnomAD
rs770227167 CA381985320	233	P>A		No	ClinGen ExAC TOPMed gnomAD
rs770227167 CA6214693	233	P>S		No	ClinGen ExAC TOPMed gnomAD
CA6214690 rs3910283	234	I>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747870613 CA6214689	234	I>T		No	ClinGen ExAC gnomAD
rs3910283 CA6214691	234	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6214688 rs778707464	238	R>G		No	ClinGen ExAC gnomAD
rs201327473 CA6214686	240	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA6214687 rs183225195	240	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs150613443 CA381985180	241	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA6214685 rs150613443	241	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA381985169 rs1469689413	242	Y>C		No	ClinGen gnomAD
TCGA novel	243	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381985156 rs1591807784	243	K>T		No	ClinGen Ensembl
rs200291625 CA6214684	244	S>L		No	ClinGen ExAC TOPMed gnomAD
rs142891822 CA6214683	245	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6214682 rs767506311	246	D>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	246	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1240665026 CA381985079	249	K>N		No	ClinGen gnomAD
rs1183776463 CA381985096	249	K>Q		No	ClinGen gnomAD
rs1445948379 CA381985084	249	K>R		No	ClinGen gnomAD
rs1202963636 CA381985072	250	D>N		No	ClinGen gnomAD
TCGA novel	251	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381985033 rs1486150627	253	Q>K		No	ClinGen gnomAD
CA225268854 rs761939684	258	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs761939684 CA6214681	258	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1271710785 CA381984918	259	R>K		No	ClinGen TOPMed
rs751557920 CA225268833	260	T>I		No	ClinGen gnomAD
rs751557920 CA381984893	260	T>K		No	ClinGen gnomAD
CA6214680 rs774622852	265	A>V		No	ClinGen ExAC TOPMed gnomAD
CA6214678 rs763113303	267	G>R		No	ClinGen ExAC gnomAD
rs775864369 CA6214677	269	P>L		No	ClinGen ExAC TOPMed gnomAD
CA6214676 rs770131640	270	R>S		No	ClinGen ExAC gnomAD
rs1363241811 CA381984724	270	R>T		No	ClinGen TOPMed gnomAD
CA381984710 rs1452117759 CA381984711	271	G>R		No	ClinGen TOPMed gnomAD
CA6214674 rs777185965	273	L>F		No	ClinGen ExAC TOPMed gnomAD
CA381984651 rs1370630147	274	K>R		No	ClinGen gnomAD
CA225268775 rs925003859	275	R>C		No	ClinGen TOPMed gnomAD
rs778754109 CA6214671	275	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6214672 rs778754109	275	R>L		No	ClinGen ExAC TOPMed gnomAD
CA381984642 rs925003859	275	R>S		No	ClinGen TOPMed gnomAD
rs148536404 CA225268751	276	N>K		No	ClinGen ESP TOPMed
rs374934907 CA6214670	276	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA381984613 rs1263726569	277	S>C		No	ClinGen gnomAD
CA381984592 rs1184667828	278	S>I		No	ClinGen gnomAD
rs1485436562 CA381984580	279	S>A		No	ClinGen gnomAD
rs748907133 CA6214669	279	S>C		No	ClinGen ExAC gnomAD
CA225268748 rs913523471	280	S>G		No	ClinGen TOPMed
CA6214668 rs765141614	280	S>T		No	ClinGen ExAC gnomAD
CA6214667 rs755878918	281	S>R		No	ClinGen ExAC gnomAD
rs112498982 CA225268739	282	T>A		No	ClinGen Ensembl
rs750384233 CA6214666	283	D>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	283	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1012439452 CA225268727	286	T>I		No	ClinGen gnomAD
CA381984454 rs1327056550	287	L>F		No	ClinGen gnomAD
CA6214665 rs781184272	288	R>C		No	ClinGen ExAC TOPMed gnomAD
rs34770350 CA6214664	288	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1304126078 CA381984429	289	Y>C		No	ClinGen gnomAD
CA6214661 rs763168386	290	N>K		No	ClinGen ExAC gnomAD
rs374049600 CA6214662	290	N>S		No	ClinGen ESP ExAC gnomAD
CA381984401 rs1565949916	291	H>Y		No	ClinGen Ensembl
rs759944810 CA6214658	293	F>C		No	ClinGen ExAC gnomAD
COSM147297 rs183363908 CA6214659	293	F>V	stomach [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs897371215 CA225268680	295	P>H		No	ClinGen gnomAD
CA381984331 rs1591806869	295	P>S		No	ClinGen Ensembl
CA381984324 rs1276126939	296	K>Q		No	ClinGen TOPMed
CA6214657 rs777040080	296	K>R		No	ClinGen ExAC gnomAD
rs1057519445 RCV000416462	297	S>missing		No	ClinVar dbSNP
rs927437496 CA225268644	300	V>A		No	ClinGen TOPMed
rs761219160 CA6214655	303	G>A		No	ClinGen ExAC gnomAD
CA6214656 rs761219160	303	G>D		No	ClinGen ExAC gnomAD
CA225268636 rs1040692780	305	T>S		No	ClinGen TOPMed gnomAD
CA6214653 rs77076792	306	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA381984164 rs1253082997	307	H>D		No	ClinGen gnomAD
rs779745537 CA6214652	307	H>L		No	ClinGen ExAC TOPMed gnomAD
CA6214651 rs779745537	307	H>R		No	ClinGen ExAC TOPMed gnomAD
CA6214650 rs745645456	312	E>K		No	ClinGen ExAC TOPMed gnomAD
rs745645456 CA6214649	312	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA381984089 rs1191925858	314	E>G		No	ClinGen TOPMed
CA381984092 rs1446656557	314	E>K		No	ClinGen TOPMed
rs1367240645 CA381984078	315	H>P		No	ClinGen TOPMed
rs1187942818 CA381984082	315	H>Y		No	ClinGen TOPMed
CA6214645 rs569500785	317	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1159821166 CA381984048	318	E>A		No	ClinGen TOPMed
CA381984037 rs1295945049	319	D>N		No	ClinGen gnomAD
CA381984017 rs1385200508	320	N>S		No	ClinGen TOPMed
rs1385200508 CA381984020	320	N>T		No	ClinGen TOPMed
CA381983989 rs1429867892	322	S>F		No	ClinGen gnomAD
rs1591806351 CA381983996	322	S>P		No	ClinGen Ensembl
CA6214642 rs765465082	323	P>A		No	ClinGen ExAC TOPMed gnomAD
rs765465082 COSM545504 CA381983986	323	P>S	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs759862338 CA6214641	324	N>D		No	ClinGen ExAC TOPMed gnomAD
rs759862338 CA381983979	324	N>H		No	ClinGen ExAC TOPMed gnomAD
CA381983968 rs1591806247	324	N>T		No	ClinGen Ensembl
CA381983948 rs1591806215	325	S>P		No	ClinGen Ensembl
CA381983928 rs754255922	326	L>P		No	ClinGen ExAC gnomAD
rs754255922 CA6214640	326	L>R		No	ClinGen ExAC gnomAD
rs373026851 CA6214639	327	E>*		No	ClinGen ESP ExAC gnomAD
rs1438602885 CA381983922	327	E>A		No	ClinGen gnomAD
rs761272307 CA6214638	329	L>V		No	ClinGen ExAC gnomAD
rs557709961 CA6214635	330	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs369272511 CA6214633	331	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs775045181 CA6214634	331	H>Y		No	ClinGen ExAC gnomAD
CA6214631 rs537817957	332	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	334	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6214630 rs770653790	334	F>S		No	ClinGen ExAC TOPMed gnomAD
CA6214628 rs74718633	335	S>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA225268403 rs761952412	337	V>A		No	ClinGen Ensembl
rs866366481 CA225268411	337	V>L		No	ClinGen TOPMed gnomAD
rs866366481 CA381983763	337	V>M		No	ClinGen TOPMed gnomAD
rs1406111250 CA381983747	338	K>R		No	ClinGen gnomAD
rs751736214 CA6214626	339	D>V		No	ClinGen ExAC TOPMed
CA381983716 rs1224441067	340	E>G		No	ClinGen gnomAD
CA6214625 rs778814479	340	E>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	342	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381983648 rs1565949023	343	Q>R		No	ClinGen Ensembl
CA6214623 rs755263993	344	S>G		No	ClinGen ExAC TOPMed gnomAD
CA225268348 rs982148454	344	S>I		No	ClinGen Ensembl
CA381983623 rs753943776	345	P>S		No	ClinGen ExAC TOPMed gnomAD
CA6214622 rs753943776	345	P>T		No	ClinGen ExAC TOPMed gnomAD
CA381983579 rs1438685413	348	I>L		No	ClinGen TOPMed
CA381983548 rs1365725547	349	H>L		No	ClinGen gnomAD
rs1156399862 CA381983544	349	H>Q		No	ClinGen TOPMed
rs1287187115 CA381983530	350	G>C		No	ClinGen TOPMed gnomAD
CA6214619 rs149639766	350	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs372799392 CA6214617	351	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA6214618 rs768108453	351	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1460369917 CA381983515	352	E>Q		No	ClinGen gnomAD
CA6214615 rs138411966	353	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6214614 rs759238299	361	S>C		No	ClinGen ExAC TOPMed gnomAD
CA6214613 rs776249653	365	K>R		No	ClinGen ExAC gnomAD
TCGA novel	366	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749906200 CA225268285	367	G>E		No	ClinGen Ensembl
rs1258602235 CA381983197	368	M>V		No	ClinGen gnomAD
CA6214612 rs770776646	369	E>G		No	ClinGen ExAC TOPMed gnomAD
rs746772314 CA6214611	370	D>E		No	ClinGen ExAC gnomAD
rs1391192100 CA381983154	371	A>T		No	ClinGen gnomAD
TCGA novel	373	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6214609 rs772015295	376	E>D		No	ClinGen ExAC gnomAD
CA381983046 rs1402263372	377	F>V		No	ClinGen gnomAD
CA6214608 RCV000963671 rs74337189	378	Q>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs369066570 CA6214607	379	S>G		No	ClinGen ESP ExAC gnomAD
rs1419259600 CA381983018	379	S>N		No	ClinGen gnomAD
CA6214606 rs191048510	381	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs749585710 CA6214605	382	K>Q		No	ClinGen ExAC gnomAD
CA6214604 rs141605617	382	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA6214603 rs368569996	383	P>A		No	ClinGen ExAC TOPMed gnomAD
CA6214602 rs750795984	385	Q>*		No	ClinGen ExAC gnomAD
CA381982894 rs1260001905	387	R>G		No	ClinGen gnomAD
CA225268151 rs1057397538	389	P>T		No	ClinGen TOPMed
CA6214598 rs371521597	390	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1354992289 CA381982819	391	L>H		No	ClinGen gnomAD
rs1041266810 CA381982771	394	Q>H		No	ClinGen TOPMed gnomAD
rs1007879048 CA225268132	395	S>L		No	ClinGen TOPMed
rs1432741027 CA381982763	395	S>P		No	ClinGen TOPMed gnomAD
rs765989300 CA6214595	396	T>A		No	ClinGen ExAC gnomAD
rs1297353666 CA381982745	396	T>I		No	ClinGen gnomAD
rs765989300 CA381982755	396	T>P		No	ClinGen ExAC gnomAD
CA6214594 rs562772705	398	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs773026850 CA6214593	398	S>R		No	ClinGen ExAC TOPMed gnomAD
CA225268119 rs889464318	399	P>L		No	ClinGen Ensembl
rs771700970 CA6214592	400	Y>C		No	ClinGen ExAC gnomAD
rs761827215 CA6214591	405	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs768849164 CA6214589	410	M>V		No	ClinGen ExAC TOPMed gnomAD
CA381982169 rs1490422806	411	T>N		No	ClinGen gnomAD
rs1193367255 CA381982172	411	T>S		No	ClinGen TOPMed gnomAD
rs749297459 CA6214588	412	S>F		No	ClinGen ExAC gnomAD
CA225268072 rs1049381964	413	G>S		No	ClinGen Ensembl
CA6214587 rs780473376	414	S>C		No	ClinGen ExAC gnomAD
TCGA novel	417	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6214585 rs746020333	417	I>V		No	ClinGen ExAC TOPMed gnomAD
CA6214584 rs781699430	420	L>P		No	ClinGen ExAC TOPMed gnomAD
COSM932678 CA6214583 rs757548182	421	H>R	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA381982092 rs1277385756	422	S>C		No	ClinGen gnomAD
TCGA novel	422	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381982084 rs1309576707	423	H>Q		No	ClinGen TOPMed
CA6214582 rs137948886	424	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs778109317 CA6214581	425	E>A		No	ClinGen ExAC TOPMed gnomAD
rs1316615150 CA381982056	426	V>I		No	ClinGen TOPMed
TCGA novel	427	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381981998 rs1349437586	428	T>I		No	ClinGen gnomAD
rs753365696 CA6214579	429	A>E		No	ClinGen ExAC gnomAD
rs1565947750 CA381981993	429	A>P		No	ClinGen Ensembl
TCGA novel	429	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6214576 rs750024264	430	R>K		No	ClinGen ExAC gnomAD
rs767407461 CA6214575	431	P>S		No	ClinGen ExAC gnomAD
rs1565947636 CA381981943	434	M>V		No	ClinGen Ensembl
CA381981914 rs1565947619	435	E>K		No	ClinGen Ensembl
rs774388891 CA6214573	436	N>H		No	ClinGen ExAC gnomAD
rs1233015347 CA381981877	438	P>A		No	ClinGen gnomAD
rs1205984407 CA381981851	440	I>T		No	ClinGen gnomAD
rs1268096278 CA381981840	441	N>S		No	ClinGen gnomAD
CA381981844 rs1190328512	441	N>Y		No	ClinGen TOPMed
TCGA novel	442	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs529242280 CA6214572	444	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA6214570 rs775743234	445	D>E		No	ClinGen ExAC TOPMed gnomAD
rs201670739 CA6214571	445	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA381981715 rs1298913518	448	S>L		No	ClinGen gnomAD
CA381981667 rs1217747318	451	T>A		No	ClinGen gnomAD
rs369778443 CA6214568	452	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs771364333 CA6214566	452	R>S		No	ClinGen ExAC gnomAD
rs369778443 CA6214567	452	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA6214565 rs747310458	455	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1444497034 CA381981576	455	S>P		No	ClinGen gnomAD
CA6214564 rs778146752	456	V>I		No	ClinGen ExAC
rs758856601 CA6214563	457	L>*		No	ClinGen ExAC TOPMed gnomAD
CA225267930 rs758856601	457	L>S		No	ClinGen ExAC TOPMed gnomAD
CA6214562 rs753140290	458	P>L		No	ClinGen ExAC gnomAD
CA225267892 rs981343034	459	R>G		No	ClinGen Ensembl
CA225267878 rs916585666	461	P>L		No	ClinGen TOPMed
rs1408846160 CA381981469	463	D>N		No	ClinGen gnomAD
CA382003685 rs1303385729	464	E>*		No	ClinGen gnomAD
TCGA novel	464	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1459647231 CA382003682	464	E>V		No	ClinGen TOPMed
CA6214517 rs564478275	466	S>C		No	ClinGen 1000Genomes ExAC gnomAD
rs573385315 CA6214518	466	S>P		No	ClinGen 1000Genomes ExAC gnomAD
CA6214516 rs564478275	466	S>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs1462467502 CA382003667	467	H>R		No	ClinGen gnomAD
CA6214514 rs766431412	468	C>Y		No	ClinGen ExAC gnomAD
CA6214512 rs750654378	469	V>I		No	ClinGen ExAC gnomAD
TCGA novel	471	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs144927884 CA6214511	473	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs546431644 CA6214510	474	S>F		No	ClinGen 1000Genomes ExAC gnomAD
CA382003609 rs1480973684	476	V>L		No	ClinGen gnomAD
CA382003611 rs1480973684	476	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1260585014 CA382003601	477	P>R		No	ClinGen gnomAD
CA382003594 rs1197229100	478	G>V		No	ClinGen gnomAD
rs774731233 CA6214509	481	S>P		No	ClinGen ExAC gnomAD
rs151237624 CA6214507	484	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6214506 rs557707739	484	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs537815950 CA6214505	487	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6213841 rs749845053	490	E>Q		No	ClinGen ExAC gnomAD
CA6213839 rs780826446	492	P>S		No	ClinGen ExAC gnomAD
CA382003489 rs1451149499	493	S>G		No	ClinGen TOPMed
rs1168951467 CA382003464	496	L>F		No	ClinGen TOPMed
CA225303989 rs895229217	497	K>E		No	ClinGen Ensembl
rs756862410 CA6213838	498	T>A		No	ClinGen ExAC gnomAD
rs374733684 CA6213837	498	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs763852487 CA6213836	499	L>F		No	ClinGen ExAC gnomAD
rs1295369895 CA382003449	499	L>S		No	ClinGen TOPMed
rs1036925034 CA225303986	501	R>G		No	ClinGen TOPMed
rs181055796 CA6213835	502	S>G		No	ClinGen 1000Genomes ESP ExAC TOPMed
CA6213834 rs752672017	502	S>R		No	ClinGen ExAC gnomAD
CA225303984 rs181055796	502	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed
RCV000882023 rs74547795 CA6213832	503	A>D		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs765287434 CA6213833	503	A>T		No	ClinGen ExAC
CA382003422 rs115176756	504	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6213830 rs115176756	504	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs760959495 CA6213829	507	M>I		No	ClinGen ExAC gnomAD
CA6213828 rs773753897	511	S>G		No	ClinGen ExAC gnomAD
rs188240250 CA6213827	511	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6213825 rs552772924	514	D>G		No	ClinGen 1000Genomes ExAC gnomAD
CA382003349 rs1342012708	515	I>V		No	ClinGen gnomAD
CA6213823 rs138133261	517	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA225303863 rs150441315	518	D>H		No	ClinGen ESP ExAC TOPMed
CA6213821 rs375587955	518	D>V		No	ClinGen ESP ExAC gnomAD
CA6213822 rs150441315	518	D>Y		No	ClinGen ESP ExAC TOPMed
CA6213819 rs201205445	520	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA6213801 rs757951203	521	N>K		No	ClinGen ExAC gnomAD
CA225300889 rs978881405	522	Q>*		No	ClinGen Ensembl
rs1295105572 CA382003290	523	A>T		No	ClinGen gnomAD
rs115283647 CA6213800	526	D>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1347435389 CA382003254	528	Q>E		No	ClinGen gnomAD
CA6213799 rs114810966	530	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs114609010 CA6213798	532	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA6213797 rs753824661	534	R>C		No	ClinGen ExAC
CA6213796 rs766625235	534	R>H		No	ClinGen ExAC TOPMed gnomAD
CA382003212 rs766625235	534	R>P		No	ClinGen ExAC TOPMed gnomAD
rs777811719 CA6213736	539	V>A		No	ClinGen ExAC TOPMed gnomAD
CA681181360 rs1245224394	540	S>L		No	ClinGen Ensembl
CA382003023 rs1485878761	541	T>I		No	ClinGen TOPMed gnomAD
rs775678120 CA225297524	542	V>G		No	ClinGen gnomAD
rs375714931 CA6213735	543	P>S		No	ClinGen ESP ExAC gnomAD
rs112009025 CA6213734	544	T>A		No	ClinGen ExAC TOPMed gnomAD
CA6213733 rs115012947	544	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA382003004 rs1323748723	545	Q>R		No	ClinGen gnomAD
rs1162236974 CA382002999	546	P>A		No	ClinGen TOPMed
CA6213732 rs755350680	546	P>H		No	ClinGen ExAC gnomAD
TCGA novel	546	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA225297516 rs1046651975	547	D>V		No	ClinGen Ensembl
rs1259456281 CA382002988	548	N>H		No	ClinGen gnomAD
rs1388336837 CA382002977	549	P>L		No	ClinGen TOPMed
rs766827459 CA6213730	550	F>L		No	ClinGen ExAC TOPMed gnomAD
CA225297499 rs894852879	552	H>Q		No	ClinGen gnomAD
rs890572607 CA225297497	553	P>R		No	ClinGen TOPMed gnomAD
CA382002954 rs1364454341	553	P>T		No	ClinGen TOPMed
CA6213729 rs372976353	556	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA6213727 rs763666921	557	K>R		No	ClinGen ExAC gnomAD
rs1407020162 CA382002901	560	S>N		No	ClinGen gnomAD
rs1178694823 CA382002897	560	S>R		No	ClinGen gnomAD
CA225297436 rs1043054081	561	K>R		No	ClinGen TOPMed gnomAD
CA382002886 rs1159621756	562	S>C		No	ClinGen gnomAD
CA6213725 rs775266903	563	V>I		No	ClinGen ExAC gnomAD
rs1178374621 CA382002860	566	F>L		No	ClinGen gnomAD
CA382002857 rs1461495861	567	L>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6213724 rs764922516	569	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1244540637 CA382002843	569	D>H		No	ClinGen gnomAD
CA382002816 rs1463125253	571	S>R		No	ClinGen TOPMed gnomAD
rs1415118812 CA382002808	572	D>N		No	ClinGen gnomAD
CA382002792 rs1217227085	574	R>G		No	ClinGen gnomAD
rs1348153131 CA382002781	575	E>G		No	ClinGen TOPMed
CA6213709 rs763753040	576	T>A		No	ClinGen ExAC gnomAD
CA382002773 rs1565882283	576	T>R		No	ClinGen Ensembl
rs757993213 CA6213708	577	D>N		No	ClinGen ExAC gnomAD
rs1254005151 CA382002761	578	T>R		No	ClinGen TOPMed
TCGA novel	579	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382002738 rs1378674346	582	S>G		No	ClinGen gnomAD
rs759176229 CA6213705	582	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1432909388 CA382002732	583	S>G		No	ClinGen TOPMed gnomAD
CA382002731 rs1432909388	583	S>R		No	ClinGen TOPMed gnomAD
rs776333860 CA6213704	584	Y>C		No	ClinGen ExAC gnomAD
rs1483244629 CA382002711	585	Q>H		No	ClinGen TOPMed
CA6213703 rs563170718	589	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6213702 rs117681965 RCV000886545 CA382002675	590	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD ClinVar dbSNP
COSM691258 CA6213701 rs773149753	593	P>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs748260430 CA6213699	595	S>P		No	ClinGen ExAC gnomAD
rs115003743 CA6213698	596	L>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA225293207 rs902390186	597	T>P		No	ClinGen TOPMed gnomAD
rs1046214430 CA225293200	597	T>S		No	ClinGen TOPMed gnomAD
rs1298048895 CA382002629	598	N>D		No	ClinGen TOPMed
CA6213697 rs768810688	598	N>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	599	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA225293198 rs146639963	600	S>N		No	ClinGen ESP TOPMed
CA382002607 rs1490806409	601	S>N		No	ClinGen gnomAD
rs867730622 CA225293196	604	G>D		No	ClinGen Ensembl
rs749494058 CA382002581	605	M>K		No	ClinGen ExAC gnomAD
rs749494058 CA6213696	605	M>T		No	ClinGen ExAC gnomAD
rs1321368261 CA382002576	606	T>A		No	ClinGen gnomAD
CA6213695 rs780349192	606	T>M		No	ClinGen ExAC TOPMed gnomAD
CA6213693 rs746175986	607	S>F		No	ClinGen ExAC gnomAD
CA382002556 rs1277586349	609	S>C		No	ClinGen gnomAD
rs112335460 CA6213673	611	V>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs781647101 CA6213674	611	V>M		No	ClinGen ExAC gnomAD
CA6213672 rs747517357	613	G>S		No	ClinGen ExAC gnomAD
rs778348403 CA6213671	616	M>K		No	ClinGen ExAC TOPMed gnomAD
CA382002505 rs1237785648	616	M>L		No	ClinGen gnomAD
rs778348403 CA382002504	616	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1462685639 CA382002487	618	V>A		No	ClinGen gnomAD
rs1233187211 CA382002480	619	Y>F		No	ClinGen TOPMed gnomAD
CA382002469 rs1309612596	621	G>R		No	ClinGen gnomAD
rs1267851235 CA382002461	622	D>H		No	ClinGen TOPMed
CA382002462 rs1267851235	622	D>Y		No	ClinGen TOPMed
rs1009704644 CA225291789	623	F>C		No	ClinGen TOPMed gnomAD
rs755715649 CA6213667	623	F>V		No	ClinGen ExAC gnomAD
rs750270054 CA6213666	624	G>D		No	ClinGen ExAC gnomAD
rs767269858 CA6213665	625	N>I		No	ClinGen ExAC TOPMed gnomAD
CA225291781 rs111638342	626	L>P		No	ClinGen Ensembl
CA382002420 rs1454249056	628	V>G		No	ClinGen gnomAD
rs1469498012 CA382002425	628	V>I		No	ClinGen TOPMed gnomAD
rs1156673261 CA382002413	629	K>N		No	ClinGen TOPMed gnomAD
CA225291780 rs896636241	631	N>D		No	ClinGen TOPMed gnomAD
rs1379958904 CA382002394	632	I>T		No	ClinGen TOPMed gnomAD
rs751500423 CA6213663	633	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs763880513 CA6213662	636	I>T		No	ClinGen ExAC gnomAD
rs1254207628 CA382002369	636	I>V		No	ClinGen TOPMed gnomAD
rs1214997616 CA382002356	638	Y>N		No	ClinGen gnomAD
rs1056954127 CA225291722	644	E>K		No	ClinGen TOPMed
CA6213661 rs763098120	645	L>F		No	ClinGen ExAC gnomAD
CA6213660 rs61740626	646	H>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA382002301 rs61740626	646	H>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1441573151 CA382002294	647	V>I		No	ClinGen TOPMed gnomAD
CA6213659 rs770072596	648	F>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	649	V>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs371022566 CA6213658	649	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1213191219 CA382002271	651	Q>K		No	ClinGen gnomAD
rs771411785 CA6213656	652	C>F		No	ClinGen ExAC gnomAD
CA6213657 rs143868501	652	C>R		No	ClinGen ExAC TOPMed gnomAD
CA6213653 rs116273188	654	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747321406 CA6213655	654	D>N		No	ClinGen ExAC gnomAD
CA6213654 rs778352974	654	D>V		No	ClinGen ExAC gnomAD
rs149867714 CA6213651	656	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA382002224 rs1314006634	658	A>T		No	ClinGen TOPMed
rs61740616 CA6213650	658	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA382002216 rs1429198700	659	D>G		No	ClinGen TOPMed gnomAD
rs185816238 CA6213647	662	K>N		No	ClinGen 1000Genomes ExAC gnomAD
CA6213646 rs751245767	663	Q>*		No	ClinGen ExAC
CA6213645 rs764119806	663	Q>R		No	ClinGen ExAC gnomAD
rs930574202	663	Q>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs758216553 CA6213644	664	R>C		No	ClinGen ExAC TOPMed gnomAD
CA6213643 rs752868186	664	R>H		No	ClinGen ExAC TOPMed gnomAD
CA225291639 rs919187182	667	P>A		No	ClinGen TOPMed
CA6213642 rs199632665	667	P>L		No	ClinGen ExAC TOPMed gnomAD
CA382002140 rs1375543103	669	V>A		No	ClinGen TOPMed
rs1375543103 CA382002139	669	V>G		No	ClinGen TOPMed
COSM932653 CA6213601 rs777687770	672	Y>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1472158798 CA382002123	672	Y>H		No	ClinGen gnomAD
rs908074692 CA225290093	674	L>I		No	ClinGen TOPMed gnomAD
rs908074692 CA382002110	674	L>V		No	ClinGen TOPMed gnomAD
CA6213599 rs375886817	675	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA382002097 rs1346304256	676	D>G		No	ClinGen TOPMed
rs779028447 CA6213598	677	K>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	678	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1222877620 CA382002068	680	M>T		No	ClinGen TOPMed gnomAD
TCGA novel	681	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6213596 rs754021698	682	K>E		No	ClinGen ExAC gnomAD
rs1174197811 CA382002041	684	K>E		No	ClinGen gnomAD
CA382002038 rs1228655162	684	K>R		No	ClinGen TOPMed
CA382002029 rs1278871904	685	T>I		No	ClinGen TOPMed gnomAD
CA382002031 rs1278871904	685	T>R		No	ClinGen TOPMed gnomAD
TCGA novel	686	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756426875 CA6213593	687	V>I		No	ClinGen ExAC TOPMed gnomAD
CA382002015 rs1298030065	688	V>L		No	ClinGen gnomAD
rs1591605675 CA382002010	689	K>E		No	ClinGen Ensembl
rs1293138777 CA382001995	691	T>P		No	ClinGen TOPMed
rs767720160 CA6213591	692	L>F		No	ClinGen ExAC gnomAD
rs1488545992 CA382001986	692	L>S		No	ClinGen TOPMed
TCGA novel	693	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1404340342 CA382001965	695	V>A		No	ClinGen TOPMed gnomAD
rs1404340342 CA382001964	695	V>G		No	ClinGen TOPMed gnomAD
CA918930609 rs1565867556	696	Y>*		No	ClinGen Ensembl
CA382001954 rs1429854152	697	N>H		No	ClinGen TOPMed
rs751880910 CA6213589	697	N>S		No	ClinGen ExAC
COSM932649 rs372798070 CA6213587	698	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1475195585 CA382001939	699	I>V		No	ClinGen gnomAD
CA6213585 rs770339928	701	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs142815066 CA6213586	701	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA225288262 rs1006729097	702	Y>C		No	ClinGen TOPMed
TCGA novel	703	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6213565 rs772733200	703	K>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	707	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	707	Q>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	708	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6213560 rs768559805	709	L>S		No	ClinGen ExAC gnomAD
CA382001862 rs1444008871	709	L>V		No	ClinGen gnomAD
CA6213559 rs573595153	711	T>S		No	ClinGen ExAC gnomAD
CA6213558 rs779858626	712	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA225288220 rs999311345	713	K>Q		No	ClinGen TOPMed
rs1357304589 CA382001819	715	N>S		No	ClinGen gnomAD
CA382001806 rs1462845864	717	S>C		No	ClinGen TOPMed
rs1175148971 CA382001810	717	S>T		No	ClinGen gnomAD
CA6213555 rs762928106	721	R>L		No	ClinGen ExAC TOPMed gnomAD
CA6213556 rs762928106	721	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs769730856 COSM932645 CA6213557	721	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs185017042 CA6213554	722	D>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs185017042 CA382001775	722	D>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1271850178 CA382001770	723	T>A		No	ClinGen TOPMed
CA382001767 rs1362770413	723	T>I		No	ClinGen TOPMed
TCGA novel	723	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA225288208 rs1046122132	724	F>L		No	ClinGen TOPMed gnomAD
rs747223787 CA6213553	726	R>C		No	ClinGen ExAC TOPMed gnomAD
CA6213552 rs114519485	726	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6213551 rs758773181	727	N>D		No	ClinGen ExAC gnomAD
CA6213550 rs377109375	727	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1209939917 CA382001737	728	S>N		No	ClinGen gnomAD
rs1019251044 CA225288167	732	E>*		No	ClinGen gnomAD
CA382001709 rs1565859270	732	E>V		No	ClinGen Ensembl
CA382001700 rs1376977214	734	E>K		No	ClinGen gnomAD
CA382001690 rs1302182388	735	L>F		No	ClinGen gnomAD
CA6213544 rs774161906	739	T>A		No	ClinGen ExAC TOPMed
CA382001648 rs1185388349	741	D>H		No	ClinGen TOPMed
rs763775250 CA6213543	742	W>*		No	ClinGen ExAC gnomAD
rs1591583450 CA382001624	744	N>D		No	ClinGen Ensembl
CA6213542 rs527932341	746	Q>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6213541 rs775304710	747	N>S		No	ClinGen ExAC gnomAD
CA6213540 rs769667781	751	R>K		No	ClinGen ExAC gnomAD
CA382001560 rs1313368197	752	W>*		No	ClinGen gnomAD
rs1425629751 CA382001565	752	W>R		No	ClinGen gnomAD
CA6213538 rs776636961	753	Y>F		No	ClinGen ExAC gnomAD
CA382001547 rs747031346	754	P>H		No	ClinGen ExAC TOPMed gnomAD
rs747031346 CA6213536	754	P>L		No	ClinGen ExAC TOPMed gnomAD
rs747031346 CA6213535	754	P>R		No	ClinGen ExAC TOPMed gnomAD
CA225288047 rs374075595	757	R>G		No	ClinGen ESP ExAC gnomAD
rs140491589 CA382001532	757	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140491589 CA6213532	757	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6213533 rs374075595	757	R>W		No	ClinGen ESP ExAC gnomAD
CA225288025 rs910077238	758	K>N		No	ClinGen TOPMed
CA382001510 rs1474403436	759	T>I		No	ClinGen gnomAD
CA382001503 rs1276222805	761	P>A		No	ClinGen gnomAD
rs374780886 CA6213512	763	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs374780886 CA382001488	763	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA6213511 rs780739286	764	L>P		No	ClinGen ExAC gnomAD
CA225284780 rs1053082231	764	L>V		No	ClinGen TOPMed gnomAD
rs1189148516 CA382001444	770	G>S		No	ClinGen gnomAD
rs1325361327 CA382001423	772	M>I		No	ClinGen gnomAD
CA6213509 rs751162459	776	L>F		No	ClinGen ExAC
rs1469201171 CA382001400	776	L>H		No	ClinGen TOPMed
TCGA novel	780	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382001349 rs1403164799	784	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1169185419 CA382001342	785	G>C		No	ClinGen gnomAD
CA382001314 rs1457345458	787	K>R		No	ClinGen TOPMed
rs1442982363 CA382001310	788	L>F		No	ClinGen TOPMed gnomAD
rs201957815 CA225283254	790	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA
rs200001290 CA6213493	791	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA382001290 rs1346858890	791	T>I		No	ClinGen gnomAD
rs200001290 CA6213492	791	T>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs374343788 CA6213491	792	G>A		No	ClinGen ESP ExAC gnomAD
TCGA novel	793	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774021437 CA225283222	793	E>K		No	ClinGen Ensembl
rs757935356 CA6213489	794	V>G		No	ClinGen ExAC gnomAD
rs780365279 CA6213490	794	V>M		No	ClinGen ExAC TOPMed gnomAD
rs752078529 CA6213488	795	H>Y		No	ClinGen ExAC gnomAD
rs576147747 CA6213487	797	W>C		No	ClinGen 1000Genomes ExAC gnomAD
rs147226965 CA225283191	798	V>L		No	ClinGen ESP ExAC gnomAD
rs147226965 CA6213486	798	V>M		No	ClinGen ESP ExAC gnomAD
rs1375226472 CA382001233	800	E>D		No	ClinGen gnomAD
CA382001239 rs1394741448	800	E>K		No	ClinGen gnomAD
rs943958849 CA225283182	801	C>R		No	ClinGen TOPMed
CA6213485 rs753676117	802	L>R		No	ClinGen ExAC gnomAD
rs760667949 CA6213483	803	D>G		No	ClinGen ExAC TOPMed gnomAD
rs373082635 CA6213484	803	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs750374367 CA6213481	804	L>P		No	ClinGen ExAC
rs267603224 CA225283146	805	P>L		No	ClinGen Ensembl
CA382001184 rs1227937938	809	G>E		No	ClinGen TOPMed
rs867567101 CA225283138	811	H>Y		No	ClinGen TOPMed
rs1472836026 CA382001164	812	L>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs371336843 CA6213479	814	S>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA382001141 rs1485283949	815	F>L		No	ClinGen TOPMed gnomAD
CA6213478 rs143725166	815	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1220904672 CA382001107	819	T>A		No	ClinGen gnomAD
rs369721219 CA6213460	819	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA382001103 rs1269941221	820	I>V		No	ClinGen TOPMed gnomAD
CA382001090 rs757117657	822	P>A		No	ClinGen ExAC gnomAD
CA6213459 rs757117657	822	P>S		No	ClinGen ExAC gnomAD
CA6213458 rs751697510	823	D>E		No	ClinGen ExAC TOPMed gnomAD
CA382001086 rs1351238193	823	D>N		No	ClinGen gnomAD
rs1459052247 CA382001078	824	T>A		No	ClinGen TOPMed
rs1460463558 CA382001076	824	T>K		No	ClinGen gnomAD
CA6213457 rs764072859	825	S>N		No	ClinGen ExAC gnomAD
CA6213455 rs775867852	826	R>K		No	ClinGen ExAC gnomAD
TCGA novel	828	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6213454 rs765487489	828	S>G		No	ClinGen ExAC gnomAD
rs148097333 CA6213452 COSM932641	829	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
COSM323714 rs577542328 CA6213451	829	R>H	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs577542328 CA6213450	829	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs148097333 CA6213453	829	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA6213449 rs143659546	830	Q>*		No	ClinGen ESP ExAC TOPMed
rs373362955 CA6213448	832	T>S		No	ClinGen ESP ExAC
rs1211970857 CA382001015	834	A>T		No	ClinGen gnomAD
TCGA novel	834	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1468077548 CA382001009	835	V>I		No	ClinGen gnomAD
rs748732825 CA6213447	836	G>R		No	ClinGen ExAC gnomAD
CA382000999 rs1356664147	837	K>Q		No	ClinGen TOPMed
TCGA novel	837	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779716066 CA6213446	838	T>N		No	ClinGen ExAC TOPMed
CA225282040 rs779716066	838	T>S		No	ClinGen ExAC TOPMed
CA382000978 rs1201074769	840	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6213445 rs755717818	841	P>L		No	ClinGen ExAC gnomAD
CA382000969 rs755717818	841	P>R		No	ClinGen ExAC gnomAD
rs918923135 CA225282033	843	F>L		No	ClinGen TOPMed
rs1220150296 CA382000950	844	N>S		No	ClinGen gnomAD
rs1240521316 CA382000952	844	N>Y		No	ClinGen TOPMed
CA382000933 rs1369370922	846	T>I		No	ClinGen gnomAD
rs1279818108 CA382000928	847	M>I		No	ClinGen TOPMed
CA6213443 rs757282695	847	M>L		No	ClinGen ExAC gnomAD
CA382000930 rs1439632826	847	M>T		No	ClinGen gnomAD
CA6213442 rs757282695	847	M>V		No	ClinGen ExAC gnomAD
CA6213441 rs751435586	849	Y>C		No	ClinGen ExAC gnomAD
CA6213440 rs764030746	850	D>E		No	ClinGen ExAC
CA6213439 rs758556075	851	G>E		No	ClinGen ExAC TOPMed gnomAD
rs775334797 CA225282000	851	G>R		No	ClinGen Ensembl
CA382000883 rs1460423344	854	P>H		No	ClinGen gnomAD
rs1460423344 CA382000882	854	P>R		No	ClinGen gnomAD
CA382000867 rs1176573115	856	D>E		No	ClinGen gnomAD
CA225281999 rs940286501	856	D>Y		No	ClinGen TOPMed gnomAD
rs987393895 CA225281998	858	M>R		No	ClinGen TOPMed
CA6213437 rs765577265	860	A>T		No	ClinGen ExAC gnomAD
TCGA novel	860	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777122682 CA6213435	861	C>W		No	ClinGen ExAC gnomAD
rs759808766 CA6213436	861	C>Y		No	ClinGen ExAC gnomAD
rs1238894556 CA382000806	866	V>L		No	ClinGen gnomAD
CA6213434 rs766640546	867	W>R		No	ClinGen ExAC gnomAD
COSM932639 rs761042622 CA6213433	868	D>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1421009332 CA382000782	869	H>R		No	ClinGen TOPMed
CA6213432 rs773600985	870	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs772531498 CA6213431	871	K>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	872	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1468735513 CA382000756	873	T>A		No	ClinGen TOPMed
CA382000750 rs1278552371	874	N>D		No	ClinGen gnomAD
rs1376390921 CA382000743	875	Q>*		No	ClinGen TOPMed
rs1353912473 CA382000730	876	F>C		No	ClinGen gnomAD
rs369162906 CA382000729 CA225281971	876	F>L		No	ClinGen ESP TOPMed gnomAD
CA382000733 rs1311632540	876	F>V		No	ClinGen TOPMed
CA6213429 rs774961996	877	L>W		No	ClinGen ExAC gnomAD
TCGA novel	880	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6213428 rs769567192	881	R>C		No	ClinGen ExAC TOPMed gnomAD
rs570191836 CA6213427 COSM932637	881	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs570191836 CA225281959	881	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1373395415 CA382000696	882	I>S		No	ClinGen gnomAD
CA382000700 rs1450052916	882	I>V		No	ClinGen gnomAD
CA225281958 rs138825711	883	G>D		No	ClinGen ESP TOPMed gnomAD
CA382000645 rs1565826853	888	K>N		No	ClinGen Ensembl
CA6213405 rs777600229	889	S>R		No	ClinGen ExAC gnomAD
rs555747398 CA6213403	892	T>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1217488740 CA382000617	893	E>Q		No	ClinGen TOPMed
rs927982066 CA225281306	895	D>N		No	ClinGen TOPMed gnomAD
CA6213402 rs778938239	896	W>C		No	ClinGen ExAC gnomAD
rs200192789 CA225281303	896	W>L		No	ClinGen Ensembl
CA225281280 rs1041661174	897	M>L		No	ClinGen TOPMed gnomAD
CA382000590 rs1041661174	897	M>V		No	ClinGen TOPMed gnomAD
TCGA novel	899	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1213883996 CA382000568	900	T>A		No	ClinGen TOPMed
rs1288660171 CA382000559	900	T>I		No	ClinGen TOPMed
rs1292589838 CA382000538	902	E>G		No	ClinGen gnomAD
CA6213401 rs755112653	905	A>V		No	ClinGen ExAC gnomAD
rs1294352655 CA382000467	907	W>C		No	ClinGen gnomAD
CA6213400 rs145036285	909	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6213399 rs190635778	909	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1384500485 CA382000421	910	M>I		No	ClinGen gnomAD
CA6213398 rs756340731	910	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1477414107 CA382000411	911	V>A		No	ClinGen TOPMed
CA382000368 rs1392988183	914	P>L		No	ClinGen gnomAD
rs763507309 CA6213394	915	N>S		No	ClinGen ExAC TOPMed gnomAD
CA6213393 rs763507309	915	N>T		No	ClinGen ExAC TOPMed gnomAD
CA6213392 rs764513451	917	W>*		No	ClinGen ExAC
CA382000332 rs1388837399	917	W>S		No	ClinGen TOPMed
rs758999129 CA6213391	918	I>T		No	ClinGen ExAC TOPMed gnomAD
rs961839754 CA225281199	919	E>G		No	ClinGen TOPMed
CA6213389 rs765995586	920	A>E		No	ClinGen ExAC TOPMed gnomAD
CA382000294 rs1267608727	920	A>P		No	ClinGen gnomAD
rs1008644427 CA225281172	923	P>L		No	ClinGen TOPMed gnomAD
rs760341625 CA6213388	926	M>T		No	ClinGen ExAC gnomAD
CA6213386 rs772008392	929	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1226379337 CA382000174	930	A>D		No	ClinGen gnomAD
CA382000180 rs1249454255	930	A>P		No	ClinGen gnomAD
rs1302230022 CA381999985 COSM932633	931	K>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs747886662 CA6213385	931	K>R		No	ClinGen ExAC TOPMed gnomAD
CA6213384 rs774462808	933	S>C		No	ClinGen ExAC gnomAD
CA381999972 rs1325252511	934	K>Q		No	ClinGen gnomAD

No associated diseases with Q9HCH5

5 regional properties for Q9HCH5

Type	Name	Position	InterPro Accession
domain	C2 domain	628 - 755	IPR000008-1
domain	C2 domain	768 - 897	IPR000008-2
domain	Rab-binding domain	1 - 57	IPR010911
domain	FYVE-type zinc finger	6 - 51	IPR041282
domain	Synaptotagmin-like 1-5, C2B domain	769 - 925	IPR043567

Functions

		Description
EC Number
Subcellular Localization	[Isoform 1]: Cytoplasm Cell membrane	Recruited on vesicular structures in cytotoxic T-lymphocytes (CTL) by RAB27A
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
exocytic vesicle	A transport vesicle that mediates transport from an intracellular compartment to the plasma membrane, and fuses with the plasma membrane to release various cargo molecules, such as proteins or hormones, by exocytosis.
extrinsic component of plasma membrane	The component of a plasma membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region.
melanosome	A tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. Melanosomes are synthesized in melanocyte cells.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

5 GO annotations of molecular function

Name	Definition
neurexin family protein binding	Binding to a neurexin, a synaptic cell surface protein related to latrotoxin receptor, laminin and agrin. Neurexins act as cell recognition molecules at nerve terminals.
phosphatase binding	Binding to a phosphatase.
phosphatidylinositol-4,5-bisphosphate binding	Binding to phosphatidylinositol-4,5-bisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 4' and 5' positions.
phosphatidylserine binding	Binding to phosphatidylserine, a class of glycophospholipids in which a phosphatidyl group is esterified to the hydroxyl group of L-serine.
small GTPase binding	Binding to a small monomeric GTPase.

4 GO annotations of biological process

Name	Definition
exocytosis	A process of secretion by a cell that results in the release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle. Exocytosis can occur either by full fusion, when the vesicle collapses into the plasma membrane, or by a kiss-and-run mechanism that involves the formation of a transient contact, a pore, between a granule (for exemple of chromaffin cells) and the plasma membrane. The latter process most of the time leads to only partial secretion of the granule content. Exocytosis begins with steps that prepare vesicles for fusion with the membrane (tethering and docking) and ends when molecules are secreted from the cell.
intracellular protein transport	The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell.
vesicle docking involved in exocytosis	The initial attachment of a vesicle membrane to a target membrane, mediated by proteins protruding from the membrane of the vesicle and the target membrane, that contributes to exocytosis.
vesicle-mediated transport	A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane.

45 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P48018	SYT1	Synaptotagmin-1	Bos taurus (Bovine)	PR
P21521	Syt1	Synaptotagmin 1	Drosophila melanogaster (Fruit fly)	PR
Q7L8C5	SYT13	Synaptotagmin-13	Homo sapiens (Human)	PR
Q6XYQ8	SYT10	Synaptotagmin-10	Homo sapiens (Human)	PR
Q9H2B2	SYT4	Synaptotagmin-4	Homo sapiens (Human)	PR
P21579	SYT1	Synaptotagmin-1	Homo sapiens (Human)	PR
Q86XP0	PLA2G4D	Cytosolic phospholipase A2 delta	Homo sapiens (Human)	PR
Q86SS6	SYT9	Synaptotagmin-9	Homo sapiens (Human)	PR
Q9BQG1	SYT3	Synaptotagmin-3	Homo sapiens (Human)	PR
O00445	SYT5	Synaptotagmin-5	Homo sapiens (Human)	PR
Q9BT88	SYT11	Synaptotagmin-11	Homo sapiens (Human)	PR
Q9BQS2	SYT15	Synaptotagmin-15	Homo sapiens (Human)	PR
Q8N9U0	TC2N	Tandem C2 domains nuclear protein	Homo sapiens (Human)	PR
O43581	SYT7	Synaptotagmin-7	Homo sapiens (Human)	PR
Q5T7P8	SYT6	Synaptotagmin-6	Homo sapiens (Human)	PR
Q8IYJ3	SYTL1	Synaptotagmin-like protein 1	Homo sapiens (Human)	PR
Q8TDW5	SYTL5	Synaptotagmin-like protein 5	Homo sapiens (Human)	PR
Q96C24	SYTL4	Synaptotagmin-like protein 4	Homo sapiens (Human)	PR
P40749	Syt4	Synaptotagmin-4	Mus musculus (Mouse)	PR
Q9EQT6	Syt13	Synaptotagmin-13	Mus musculus (Mouse)	PR
Q9R0N4	Syt10	Synaptotagmin-10	Mus musculus (Mouse)	PR
Q99N80	Sytl1	Synaptotagmin-like protein 1	Mus musculus (Mouse)	PR
Q8C6N3	Syt15	Synaptotagmin-15	Mus musculus (Mouse)	PR
Q920N7	Syt12	Synaptotagmin-12	Mus musculus (Mouse)	PR
Q9R0N5	Syt5	Synaptotagmin-5	Mus musculus (Mouse)	PR
Q9R0N9	Syt9	Synaptotagmin-9	Mus musculus (Mouse)	PR
Q9R0N8	Syt6	Synaptotagmin-6	Mus musculus (Mouse)	PR
Q50L43	Pla2g4d	Cytosolic phospholipase A2 delta	Mus musculus (Mouse)	PR
P46096	Syt1	Synaptotagmin-1	Mus musculus (Mouse)	PR
Q9R0N3	Syt11	Synaptotagmin-11	Mus musculus (Mouse)	PR
O35681	Syt3	Synaptotagmin-3	Mus musculus (Mouse)	PR
P46097	Syt2	Synaptotagmin-2	Mus musculus (Mouse)	PR
Q91XT6	Tc2n	Tandem C2 domains nuclear protein	Mus musculus (Mouse)	PR
Q80T23	Sytl5	Synaptotagmin-like protein 5	Mus musculus (Mouse)	PR
Q9R0Q1	Sytl4	Synaptotagmin-like protein 4	Mus musculus (Mouse)	PR
Q812E4	Sytl5	Synaptotagmin-like protein 5	Rattus norvegicus (Rat)	PR
Q925B5	Syt13	Synaptotagmin-13	Rattus norvegicus (Rat)	PR
O08625	Syt10	Synaptotagmin-10	Rattus norvegicus (Rat)	PR
P47861	Syt5	Synaptotagmin-5	Rattus norvegicus (Rat)	PR
Q62746	Syt6	Synaptotagmin-6	Rattus norvegicus (Rat)	PR
P97610	Syt12	Synaptotagmin-12	Rattus norvegicus (Rat)	PR
P40748	Syt3	Synaptotagmin-3	Rattus norvegicus (Rat)	PR
Q925C0	Syt9	Synaptotagmin-9	Rattus norvegicus (Rat)	PR
P59926	Syt15	Synaptotagmin-15	Rattus norvegicus (Rat)	PR
P21707	Syt1	Synaptotagmin-1	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MIDLSFLTEE	EQEAIMKVLQ	RDAALKRAEE	ERVRHLPEKI	KDDQQLKNMS	GQWFYEAKAK
70	80	90	100	110	120
RHRDKIHGAD	IIRASMRKKR	PQIAAEQSKD	RENGAKESWV	NNVNKDAFLP	PELAGVVEEP
130	140	150	160	170	180
EEDAAPASPS	SSVVNPASSV	IDMSQENTRK	PNVSPEKRKN	PFNSSKLPEG	HSSQQTKNEQ
190	200	210	220	230	240
SKNGRTGLFQ	TSKEDELSES	KEKSTVADTS	IQKLEKSKQT	LPGLSNGSQI	KAPIPKARKM
250	260	270	280	290	300
IYKSTDLNKD	DNQSFPRQRT	DSLKARGAPR	GILKRNSSSS	STDSETLRYN	HNFEPKSKIV
310	320	330	340	350	360
SPGLTIHERI	SEKEHSLEDN	SSPNSLEPLK	HVRFSAVKDE	LPQSPGLIHG	REVGEFSVLE
370	380	390	400	410	420
SDRLKNGMED	AGDTEEFQSD	PKPSQYRKPS	LFHQSTSSPY	VSKSETHQPM	TSGSFPINGL
430	440	450	460	470	480
HSHSEVLTAR	PQSMENSPTI	NEPKDKSSEL	TRLESVLPRS	PADELSHCVE	PEPSQVPGGS
490	500	510	520	530	540
SRDRQQGSEE	EPSPVLKTLE	RSAARKMPSK	SLEDISSDSS	NQAKVDNQPE	ELVRSAEDVS
550	560	570	580	590	600
TVPTQPDNPF	SHPDKLKRMS	KSVPAFLQDE	SDDRETDTAS	ESSYQLSRHK	KSPSSLTNLS
610	620	630	640	650	660
SSSGMTSLSS	VSGSVMSVYS	GDFGNLEVKG	NIQFAIEYVE	SLKELHVFVA	QCKDLAAADV
670	680	690	700	710	720
KKQRSDPYVK	AYLLPDKGKM	GKKKTLVVKK	TLNPVYNEIL	RYKIEKQILK	TQKLNLSIWH
730	740	750	760	770	780
RDTFKRNSFL	GEVELDLETW	DWDNKQNKQL	RWYPLKRKTA	PVALEAENRG	EMKLALQYVP
790	800	810	820	830	840
EPVPGKKLPT	TGEVHIWVKE	CLDLPLLRGS	HLNSFVKCTI	LPDTSRKSRQ	KTRAVGKTTN
850	860	870	880	890	900
PIFNHTMVYD	GFRPEDLMEA	CVELTVWDHY	KLTNQFLGGL	RIGFGTGKSY	GTEVDWMDST
910	920	930
SEEVALWEKM	VNSPNTWIEA	TLPLRMLLIA	KISK