AiPD: Autoinhibited Protein Database

Q7L1I2

Gene name	SV2B (KIAA0735)
Protein name	Synaptic vesicle glycoprotein 2B
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9899
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-61 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-61 (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 Q7L1I2

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q7L1I2-F1	Predicted				AlphaFoldDB

546 variants for Q7L1I2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA174311 RCV000149081 rs193920952 COSM1178706	513	R>W	Malignant tumor of prostate prostate [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
rs1252821483 CA393919551	2	D>N		No	ClinGen gnomAD
rs1460732831 CA393919594	4	Y>C		No	ClinGen gnomAD
rs775223820 CA7745266	4	Y>N		No	ClinGen ExAC gnomAD
rs762705345 CA7745267	7	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA393919649 rs1165528483	8	D>N		No	ClinGen TOPMed gnomAD
CA393919651 rs1165528483	8	D>Y		No	ClinGen TOPMed gnomAD
CA393919669 rs1157777639	9	N>D		No	ClinGen gnomAD
CA275172706 rs1031131951	9	N>T		No	ClinGen TOPMed
rs1426533690 CA393919688	10	Y>H		No	ClinGen TOPMed
rs1173720407 CA393919701	11	G>R		No	ClinGen Ensembl
CA275172707 rs376979688	12	G>V		No	ClinGen ESP TOPMed
CA393919731 rs1472483637	13	Y>C		No	ClinGen TOPMed
rs774267988 CA7745269	14	A>D		No	ClinGen ExAC gnomAD
CA7745268 rs148343244	14	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	16	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1384881649 CA393919779	16	S>R		No	ClinGen gnomAD
CA393919802 rs1331902247	18	G>D		No	ClinGen gnomAD
CA7745270 rs761660483	18	G>S		No	ClinGen ExAC gnomAD
CA393919800 rs1331902247	18	G>V		No	ClinGen gnomAD
CA7745272 rs200518168	19	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
CA7745273 rs141522931	21	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA7745274 rs141522931	21	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA7745275 rs753020617	21	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7745278 rs747449949	22	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7745277 rs150480705 COSM1375507	22	G>S	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs776455226 CA7745279	23	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1025737786 CA275172709	26	N>S		No	ClinGen TOPMed
rs780701301 CA7745280	27	P>L		No	ClinGen ExAC gnomAD
CA393919950 rs1458386131	28	E>A		No	ClinGen gnomAD
CA393919962 rs200028214	29	E>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200028214 CA7745282	29	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1343595361 CA393919987	30	D>V		No	ClinGen TOPMed
rs1322757379 CA393920034	33	S>G		No	ClinGen TOPMed
rs748998104 CA7745284	37	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA393920133 rs1423114344	39	H>D		No	ClinGen TOPMed
rs1368553103 CA393920140	39	H>R		No	ClinGen gnomAD
rs768373965 CA7745285	41	E>G		No	ClinGen ExAC gnomAD
rs761763850 CA7745287	44	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1229116184 CA393920194	45	I>F		No	ClinGen gnomAD
CA393920204 rs1312565490	46	Y>F		No	ClinGen TOPMed gnomAD
rs771936032 CA7745288	47	E>K		No	ClinGen ExAC gnomAD
CA7745290 rs759514782	49	E>G		No	ClinGen ExAC gnomAD
CA393920220 rs1266462251	49	E>K		No	ClinGen TOPMed gnomAD
CA393920231 rs1249190335	50	Y>C		No	ClinGen gnomAD
rs372807985 CA7745292	53	I>F		No	ClinGen ExAC TOPMed gnomAD
rs372807985 CA393920250	53	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1422042529 CA393920265	55	H>R		No	ClinGen TOPMed gnomAD
CA393920269 rs1350298357	56	P>S		No	ClinGen TOPMed gnomAD
rs751888588 CA7745295	57	D>H		No	ClinGen ExAC gnomAD
COSM107877 CA275172712 rs147636814	58	D>N	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA393920290 rs1306358609	59	V>F		No	ClinGen gnomAD
rs1263329403 CA393920307	61	A>G		No	ClinGen TOPMed
rs781517515 CA7745297	65	K>R		No	ClinGen ExAC
rs750988407 CA7745298	67	A>E		No	ClinGen ExAC gnomAD
CA275172714 rs750988407	67	A>V		No	ClinGen ExAC gnomAD
rs1230570278 CA393920356	68	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs267604388 CA7745301	69	S>F		No	ClinGen ExAC gnomAD
rs769596186 CA7745302	70	R>G		No	ClinGen ExAC gnomAD
TCGA novel	70	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768320974 CA7745304	71	M>T		No	ClinGen ExAC
rs922595667 CA275172716	71	M>V		No	ClinGen Ensembl
CA393920378 rs1271952827	72	D>G		No	ClinGen gnomAD
rs867130699 CA275172717	72	D>N		No	ClinGen TOPMed gnomAD
COSM1375508 rs1464285791 CA393920384	73	S>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA393920388 rs1442919125 CA393920389	73	S>R		No	ClinGen TOPMed
rs1596625162 CA393920391	74	L>V		No	ClinGen Ensembl
rs35575298 CA7745306	75	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs201612018 CA7745305 COSM1301588	75	R>W	Variant assessed as Somatic; 0.0001849 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA7745307 rs771953166	76	G>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1177358571 CA393920401	76	G>D		No	ClinGen TOPMed
CA7745309 rs760736791	78	T>A		No	ClinGen ExAC TOPMed gnomAD
CA7745310 rs769924724	78	T>K		No	ClinGen ExAC TOPMed gnomAD
CA275172718 rs769924724	78	T>R		No	ClinGen ExAC TOPMed gnomAD
CA275172719 rs372824872	79	D>E		No	ClinGen ESP TOPMed
rs775720759 CA7745311	84	R>G		No	ClinGen ExAC TOPMed gnomAD
COSM3720269 rs200837218 CA7745312	84	R>S	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA393920459 rs1176270335	85	L>R		No	ClinGen TOPMed
rs1596625360 CA393920463	86	E>G		No	ClinGen Ensembl
rs1357459107 CA393920473	87	D>G		No	ClinGen TOPMed gnomAD
rs1357459107 CA393920472	87	D>V		No	ClinGen TOPMed gnomAD
rs764440020 CA7745313	88	E>K		No	ClinGen ExAC gnomAD
CA7745314 rs200378766	90	Q>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1365105341 CA393920496	90	Q>H		No	ClinGen gnomAD
rs1596625401 CA393920502	91	L>W		No	ClinGen Ensembl
CA393920523 rs1433340851	94	Q>R		No	ClinGen gnomAD
CA7745316 rs767982613	96	E>K		No	ClinGen ExAC TOPMed gnomAD
rs750889605 CA7745317	97	T>I		No	ClinGen ExAC
CA393920547 rs1214842219	98	I>V		No	ClinGen gnomAD
rs779490817 CA7745319	99	M>I		No	ClinGen ExAC TOPMed gnomAD
rs147254728 CA7745318	99	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs946531726 CA275172721	101	E>K		No	ClinGen TOPMed
CA275172724 rs904910363	104	H>D		No	ClinGen Ensembl
CA275172725 rs1025259734	104	H>R		No	ClinGen TOPMed
CA7745320 rs753378261	106	R>C		No	ClinGen ExAC gnomAD
rs1243610540 CA393920604	106	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA7745321 rs754523967	108	Q>H		No	ClinGen ExAC gnomAD
CA393920619 rs1596625676	108	Q>R		No	ClinGen Ensembl
CA393920630 rs1249714122	109	W>C		No	ClinGen gnomAD
CA7745324 rs758126909	112	F>C		No	ClinGen ExAC gnomAD
CA393920645 rs1383257589	112	F>L		No	ClinGen gnomAD
rs149370473 CA275172727	113	F>L		No	ClinGen ESP TOPMed gnomAD
rs746858920 CA7745326 COSM198052	114	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA393920659 rs746858920	114	V>L		No	ClinGen ExAC TOPMed gnomAD
rs78104358 CA393920668 CA275172729	115	L>F		No	ClinGen gnomAD
rs993206149 CA275172730	116	G>D		No	ClinGen gnomAD
rs1366333868 CA393920679	117	L>F		No	ClinGen gnomAD
rs775669399 CA7745328	117	L>S		No	ClinGen ExAC gnomAD
TCGA novel	119	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749345890 CA7745329	119	L>Q		No	ClinGen ExAC gnomAD
TCGA novel	121	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1273823215 CA393920704	121	A>V		No	ClinGen gnomAD
CA275172731 rs1033979803	122	D>E		No	ClinGen TOPMed gnomAD
CA7745331 rs774422650	122	D>N		No	ClinGen ExAC gnomAD
CA393920714 rs762162154	123	G>E		No	ClinGen ExAC gnomAD
CA275172732 rs201835444	123	G>R		No	ClinGen Ensembl
CA7745332 rs762162154	123	G>V		No	ClinGen ExAC gnomAD
CA393920711 rs201835444	123	G>W		No	ClinGen Ensembl
rs1596625983 CA393920719	124	V>G		No	ClinGen Ensembl
rs1206789617 CA393920726	125	E>V		No	ClinGen gnomAD
CA393920729 rs1269963865	126	V>M		No	ClinGen gnomAD
COSM3817087 CA7745334 rs773650229	128	V>M	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA7745336 rs766842438	130	S>N		No	ClinGen ExAC TOPMed gnomAD
rs753088603 CA275172733	132	A>T		No	ClinGen Ensembl
CA393920781 rs1411373759	134	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs142186906 CA7745339	135	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1182313952 CA393920822	140	M>L		No	ClinGen gnomAD
CA7745340 rs752228071	141	C>G		No	ClinGen ExAC TOPMed gnomAD
rs1382658874 CA393920844	143	S>P		No	ClinGen TOPMed gnomAD
rs1283596613 CA393920848	143	S>Y		No	ClinGen TOPMed
rs758080064 CA7745341	144	S>N		No	ClinGen ExAC gnomAD
CA7745343 rs746828560	145	S>T		No	ClinGen ExAC gnomAD
rs1406444029 CA393920861	146	K>Q		No	ClinGen TOPMed gnomAD
rs1283335380 CA393920882	148	G>E		No	ClinGen gnomAD
TCGA novel	148	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781250698 CA7745345 CA393920889	149	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1377280071 CA393920896	151	G>R		No	ClinGen TOPMed
rs778818870 CA7745366	152	M>I		No	ClinGen ExAC gnomAD
CA275175551 rs1042000586	153	I>M		No	ClinGen Ensembl
rs944904093 CA275175550	153	I>V		No	ClinGen Ensembl
CA393922867 rs1251398280	154	V>A		No	ClinGen TOPMed gnomAD
CA7745367 rs748229273	157	G>R		No	ClinGen ExAC gnomAD
CA7745368 rs146271108	160	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA393922917 rs1445544495	161	G>V		No	ClinGen gnomAD
CA7745372 COSM966646 rs372020741	162	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA393922943 rs1427473410	166	G>R		No	ClinGen gnomAD
rs759983195 CA7745373	171	K>T		No	ClinGen ExAC gnomAD
CA393923028 rs1261711865	174	R>K		No	ClinGen TOPMed
COSM966647 CA393923042 rs770360729	176	R>*	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs770360729 CA7745374	176	R>G		No	ClinGen ExAC gnomAD
rs79725910 CA7745376	176	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs79725910 CA7745375	176	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA393923073 rs1384914841	179	S>R		No	ClinGen gnomAD
rs915668107 CA275175555	180	M>I		No	ClinGen TOPMed
CA7745378 CA7745379 rs765964793	180	M>L		No	ClinGen ExAC TOPMed gnomAD
rs536730683 CA275175554	180	M>T		No	ClinGen Ensembl
rs1340274841 CA393923099	181	S>F		No	ClinGen gnomAD
rs143979505 COSM169144 CA7745382	184	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine urinary_tract haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs77204250 CA7745383	185	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA275175556 rs1015476941	186	A>V		No	ClinGen gnomAD
COSM2140669 rs200150672 CA7745386	189	A>T	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA7745387 rs547706465	191	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs771169038 CA7745388	191	L>H		No	ClinGen ExAC gnomAD
CA393923251 rs1434386548	194	F>V		No	ClinGen TOPMed
rs1421967562 CA393923274	195	V>A		No	ClinGen TOPMed
CA275175558 rs776050433	195	V>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7745392 rs776050433	195	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs369065381 CA7745393	197	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs774010844 CA7745395	200	A>D		No	ClinGen ExAC TOPMed gnomAD
CA393923336 rs774010844	200	A>G		No	ClinGen ExAC TOPMed gnomAD
rs566828523 CA7745394	200	A>T		No	ClinGen ExAC gnomAD
CA393923338 rs774010844	200	A>V		No	ClinGen ExAC TOPMed gnomAD
CA393923342 rs1383729548	201	F>V		No	ClinGen TOPMed gnomAD
rs1238460798 CA393923383	203	F>L		No	ClinGen TOPMed
CA393923369 rs1567394870	203	F>L		No	ClinGen Ensembl
CA7745397 COSM966648 rs767247777	205	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs750150251 CA393923406	205	R>P		No	ClinGen ExAC TOPMed gnomAD
CA7745398 rs750150251	205	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs760507104 CA7745399	207	I>V		No	ClinGen ExAC gnomAD
rs1567394923 CA393923453	208	S>*		No	ClinGen Ensembl
CA7745400 rs766155861	209	G>A		No	ClinGen ExAC gnomAD
rs61731608 CA275175560	210	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA393923488 rs1487018721	211	G>A		No	ClinGen gnomAD
rs754888193 CA7745402	211	G>S		No	ClinGen ExAC TOPMed gnomAD
rs145534909 CA7745425	212	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	214	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA393923582 rs1305123999	214	G>C		No	ClinGen gnomAD
CA7745426 rs756304643	214	G>D		No	ClinGen ExAC TOPMed gnomAD
CA393923581 rs1305123999	214	G>R		No	ClinGen gnomAD
rs1409286143 CA393923590	215	A>T		No	ClinGen gnomAD
rs1425750662 CA393923604	216	L>V		No	ClinGen TOPMed
rs750714458 CA275175592	217	P>A		No	ClinGen Ensembl
rs1446315930 CA393923619 COSM315690	217	P>L	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
CA275175594 rs201136240	218	I>N		No	ClinGen Ensembl
rs1210452364	220	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749584517 CA7745428	222	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA393923685 rs1271506522	223	F>V		No	ClinGen TOPMed
CA275175595 rs780342749 COSM2140673	229	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs148980578 CA7745429	229	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA393923735 rs1359782676	230	E>D		No	ClinGen gnomAD
rs202215568 CA275175597	232	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs779548438 CA7745430	232	R>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	234	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	234	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA393923768 rs1250077897	235	H>Q		No	ClinGen gnomAD
rs779461611 CA7745431	236	L>*		No	ClinGen ExAC
CA393923772 rs1481346147	236	L>H		No	ClinGen gnomAD
rs748729632 CA7745432	236	L>V		No	ClinGen ExAC gnomAD
TCGA novel	237	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7745433 rs771638877	240	G>D		No	ClinGen ExAC gnomAD
CA393923832 rs772607628 CA7745434	244	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
CA393923835 rs1326293741	245	T>A		No	ClinGen TOPMed
CA393923865 rs1376781395	250	A>T		No	ClinGen TOPMed gnomAD
rs761968913 CA275175598	252	A>S		No	ClinGen Ensembl
CA7745438 rs759308630	252	A>V		No	ClinGen ExAC TOPMed gnomAD
CA393923889 rs1377631076	253	M>I		No	ClinGen gnomAD
CA393923885 rs1302721063	253	M>T		No	ClinGen gnomAD
CA393923882 rs1443052477	253	M>V		No	ClinGen TOPMed gnomAD
CA7745440 rs775404297	256	S>I		No	ClinGen ExAC gnomAD
rs765078364 CA7745439	256	S>R		No	ClinGen ExAC gnomAD
rs1359668406 CA393923913	257	I>F		No	ClinGen gnomAD
rs1359668406 CA393923911	257	I>L		No	ClinGen gnomAD
rs1227161069 CA393923920	258	I>F		No	ClinGen gnomAD
TCGA novel	261	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1475891461 CA393923966	262	G>A		No	ClinGen gnomAD
CA393924000 rs138530686	267	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA7745458 rs138530686	267	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	268	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1481472446 CA393924018 COSM966650	269	T>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA7745461 rs760657276	270	N>S		No	ClinGen ExAC gnomAD
TCGA novel	272	H>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA393924072 rs1459801970	276	W>*		No	ClinGen Ensembl
rs766546831 CA7745462	277	R>*		No	ClinGen ExAC gnomAD
CA7745463 rs529483891	277	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA393924076 rs529483891	277	R>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA393924084 rs1596714269	278	V>A		No	ClinGen Ensembl
TCGA novel	278	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA393924098 rs1273914321	280	V>A		No	ClinGen gnomAD
CA393924095 rs1477549127	280	V>F		No	ClinGen TOPMed
CA393924096 rs1477549127	280	V>I		No	ClinGen TOPMed
CA7745466 rs753139153 COSM556597	282	V>I	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs753139153 CA7745467	282	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1246547210 CA393924135	286	P>L		No	ClinGen TOPMed
rs1205673929 CA393924137	287	C>R		No	ClinGen TOPMed
CA275176241 rs564149748	289	V>M		No	ClinGen gnomAD
rs752170850 CA7745469	290	S>T		No	ClinGen ExAC TOPMed gnomAD
CA393924161 rs1221848528	291	M>V		No	ClinGen gnomAD
rs1198520142 CA393924177	293	A>S		No	ClinGen TOPMed
rs1323691345 CA393924201	296	F>L		No	ClinGen TOPMed
rs1447394209 CA393924214	298	P>L		No	ClinGen gnomAD
rs756720889 CA7745470	300	S>T		No	ClinGen ExAC gnomAD
rs370803593 CA7745471	301	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA393924237 rs745467646	302	R>G		No	ClinGen ExAC gnomAD
CA393924243 rs146910981	302	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs745467646 CA393924238	302	R>W		No	ClinGen ExAC gnomAD
CA393924290 CA393924288 rs1162138690	307	M>I		No	ClinGen gnomAD
CA7745496 rs779667107	309	K>E		No	ClinGen ExAC gnomAD
rs1567404914 CA393924308	310	H>R		No	ClinGen Ensembl
rs199587466 CA275176448	311	D>G		No	ClinGen TOPMed
CA393924313 rs749006410	311	D>N		No	ClinGen ExAC gnomAD
rs749006410 CA7745497	311	D>Y		No	ClinGen ExAC gnomAD
CA393924322 rs1305042682	312	E>G		No	ClinGen TOPMed
CA393924330 rs1370163133	313	A>G		No	ClinGen TOPMed
rs1395078024 CA393924356	316	I>M		No	ClinGen gnomAD
rs1331910936 CA393924372	319	Q>E		No	ClinGen TOPMed
CA275176449 rs912321497	320	V>I		No	ClinGen TOPMed
CA7745499 rs778780394	321	H>R		No	ClinGen ExAC gnomAD
rs1407725078 CA393924386	321	H>Y		No	ClinGen TOPMed gnomAD
CA7745500 rs141421187	323	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA393924402 rs772075354	323	T>I		No	ClinGen ExAC gnomAD
CA7745501 rs772075354	323	T>S		No	ClinGen ExAC gnomAD
rs1327155104 CA393924409	324	N>K		No	ClinGen TOPMed
CA7745502 rs773318473	325	M>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA393924437 rs1596719857	328	K>R		No	ClinGen Ensembl
CA275176452 rs918837293	329	G>E		No	ClinGen Ensembl
CA7745504 rs373616246	330	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA393924445 rs1596719882	330	T>P		No	ClinGen Ensembl
CA393924483 rs1274322333	335	F>C		No	ClinGen gnomAD
CA7745507 rs149291154	336	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs758082542 CA275177236	339	N>K		No	ClinGen Ensembl
CA7745530 rs754134799	339	N>S		No	ClinGen ExAC TOPMed gnomAD
CA393919044 rs1487071078	340	I>M		No	ClinGen gnomAD
CA393919038 rs1259376950	340	I>V		No	ClinGen TOPMed gnomAD
CA275177237 rs754984423	342	T>I		No	ClinGen Ensembl
rs1459076163 CA393919063	343	P>L		No	ClinGen TOPMed
CA393919068 rs1366530904	344	K>R		No	ClinGen TOPMed
CA393919073 rs201461258	345	Q>E		No	ClinGen TOPMed
rs201461258 CA275177238	345	Q>K		No	ClinGen TOPMed
rs761182861 CA7745531	346	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1029698319 CA275177239	346	M>V		No	ClinGen Ensembl
rs1263474079 CA393919094	348	E>K		No	ClinGen gnomAD
CA7745532 rs561238419	349	F>L		No	ClinGen 1000Genomes ExAC gnomAD
CA393919103 rs561238419	349	F>V		No	ClinGen 1000Genomes ExAC gnomAD
rs988512294 CA275177241	350	I>T		No	ClinGen TOPMed gnomAD
rs1029203758 CA275177240	350	I>V		No	ClinGen TOPMed
CA393919121 rs1487353517	351	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1480753224 CA393919126	352	I>T		No	ClinGen gnomAD
rs1337933840 CA393919136	353	Q>H		No	ClinGen Ensembl
rs957596866 CA275177242	354	S>G		No	ClinGen TOPMed
CA7745533 rs753416115	355	S>*		No	ClinGen ExAC gnomAD
rs989121166 COSM3706824 CA275177243	357	G>E	liver [Cosmic]	No	ClinGen cosmic curated TOPMed
rs914943332 CA275177244	358	T>A		No	ClinGen TOPMed
rs1159294794 CA393919164	358	T>I		No	ClinGen gnomAD
rs1020966598 CA275177245	360	Y>C		No	ClinGen Ensembl
COSM72858 CA7745535 rs764917348	362	R>C	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA7745536 rs146788122	362	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA393919191 rs146788122	362	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1391280412 CA393919199	363	W>C		No	ClinGen gnomAD
CA393919205 rs1319284558	364	L>P		No	ClinGen TOPMed
rs1596737611 CA393919212	365	V>G		No	ClinGen Ensembl
TCGA novel	366	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1319047656 CA393919234	368	K>N		No	ClinGen gnomAD
CA275177247 rs926556402	369	T>S		No	ClinGen TOPMed
CA393919244 rs1286281303	370	I>N		No	ClinGen TOPMed gnomAD
rs1240215267 CA393919242	370	I>V		No	ClinGen gnomAD
rs1358359507 CA393919252	371	F>S		No	ClinGen gnomAD
CA275177248 rs937819737	372	K>R		No	ClinGen Ensembl
rs1219598592 CA393919265	373	Q>*		No	ClinGen TOPMed gnomAD
CA393919263 rs1219598592	373	Q>K		No	ClinGen TOPMed gnomAD
rs752330674 CA7745556	376	D>N		No	ClinGen ExAC gnomAD
rs374502775 CA7745557	377	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA7745558 rs763935279	378	A>T		No	ClinGen ExAC gnomAD
CA393919332 rs751434328	381	C>R		No	ClinGen ExAC TOPMed gnomAD
rs751434328 CA7745559	381	C>S		No	ClinGen ExAC TOPMed gnomAD
rs555144842 CA7745560	382	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs1222757743 CA393919357	384	G>E		No	ClinGen TOPMed
CA393919355 rs146252262	384	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA7745561 rs146252262	384	G>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA7745563 rs369487799	385	P>S		No	ClinGen ESP ExAC gnomAD
TCGA novel	387	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	387	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7745566 rs144134786	395	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs144134786 CA7745565	395	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1484996008 CA393919432	396	V>F		No	ClinGen gnomAD
CA275177334 rs771253482	397	W>*		No	ClinGen ExAC TOPMed gnomAD
CA393919441 rs1199138499	397	W>C		No	ClinGen gnomAD
CA7745569 rs771253482	397	W>S		No	ClinGen ExAC TOPMed gnomAD
rs1459249379 CA393919445	398	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA393919458 rs1459762091	400	M>V		No	ClinGen gnomAD
CA393919468 rs1391937950	401	A>T		No	ClinGen TOPMed
rs1347646539 CA393919504	404	Y>C		No	ClinGen TOPMed
rs1226024035 CA393919512	405	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs757571456 CA7745588	411	F>L		No	ClinGen ExAC TOPMed gnomAD
CA393919586 rs1280852974	412	P>L		No	ClinGen gnomAD
CA393919613 rs1481727004	414	M>K		No	ClinGen TOPMed gnomAD
CA393919609 rs1481727004	414	M>T		No	ClinGen TOPMed gnomAD
rs1267348286 CA393919605	414	M>V		No	ClinGen gnomAD
CA7745589 COSM3771934 rs148600928	416	R>C	pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA7745590 rs28575545	416	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA393919637 rs28575545	416	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA275177403 rs28575545	416	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7745592 rs776183422	417	Y>C		No	ClinGen ExAC gnomAD
rs1400069438 CA393919680	420	D>N		No	ClinGen gnomAD
TCGA novel	421	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA275177404 rs982591066	423	Y>C		No	ClinGen TOPMed
CA7745595 rs774143432	427	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1349613881 CA393919825	430	F>I		No	ClinGen gnomAD
rs1407160855 CA393919857	432	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1021540554 CA275177406	433	E>A		No	ClinGen TOPMed gnomAD
CA275177405 rs986045494	433	E>K		No	ClinGen TOPMed gnomAD
CA7745599 rs760556310	434	H>R		No	ClinGen ExAC gnomAD
CA275177407 rs977415405	435	V>L		No	ClinGen TOPMed gnomAD
rs758463715 CA7745602	437	G>D		No	ClinGen ExAC gnomAD
CA7745601 rs753827490	437	G>S		No	ClinGen ExAC TOPMed gnomAD
COSM2155347 rs77109752 CA7745604	438	A>T	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs757447552 CA7745605	439	T>K		No	ClinGen ExAC gnomAD
CA393919935 rs1419973507	440	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
COSM1323757 CA7745606 rs781583501	442	F>L	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs781583501 CA393919954	442	F>V		No	ClinGen ExAC TOPMed gnomAD
rs750726094 CA7745607	443	T>A		No	ClinGen ExAC gnomAD
CA7745608 rs756551489	443	T>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	446	N>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs142544908 CA7745611	448	I>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs749878408 CA7745610	448	I>V		No	ClinGen ExAC gnomAD
rs778586878 CA7745612	449	H>Q		No	ClinGen ExAC gnomAD
CA275177409 rs910093345	450	Q>*		No	ClinGen TOPMed
CA7745613 rs747795228	451	H>D		No	ClinGen ExAC gnomAD
CA7745614 rs771592682	451	H>R		No	ClinGen ExAC TOPMed gnomAD
rs747795228 CA393920064	451	H>Y		No	ClinGen ExAC gnomAD
CA7745615 rs146893681	453	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7745616 rs560698232	454	L>I		No	ClinGen 1000Genomes ExAC gnomAD
CA393920101 rs1361594729	454	L>P		No	ClinGen gnomAD
rs1210579356 CA619865151	456	N>S		No	ClinGen gnomAD
CA393920120 rs1272908551	456	N>T		No	ClinGen gnomAD
rs770774753 CA7745618	458	K>R		No	ClinGen ExAC gnomAD
rs750546987 CA7745643	460	T>R		No	ClinGen ExAC TOPMed gnomAD
CA275178941 rs749765911	461	R>T		No	ClinGen Ensembl
CA393920959 rs1401931086	464	F>L		No	ClinGen gnomAD
TCGA novel	464	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1279388206 CA393920972	466	H>R		No	ClinGen gnomAD
rs138977226 CA393920983	468	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7745644 rs138977226	468	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754222295 CA7745646	476	E>K		No	ClinGen ExAC TOPMed gnomAD
rs950120134 CA275178943	482	V>I		No	ClinGen TOPMed
rs765825421 CA7745648	483	T>A		No	ClinGen ExAC gnomAD
rs1195286061 CA393921095	483	T>K		No	ClinGen TOPMed gnomAD
CA275178944 rs72750217	485	T>K		No	ClinGen 1000Genomes
CA393921112 rs1480092828	486	D>V		No	ClinGen gnomAD
rs1318139131 CA393921118	487	T>A		No	ClinGen TOPMed
rs777347621 CA7745651	487	T>I		No	ClinGen ExAC gnomAD
CA7745653 rs148108700	488	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1339291726 CA393921130	489	F>L		No	ClinGen TOPMed
rs1401913413 CA393921166	493	T>I		No	ClinGen gnomAD
rs769638638 CA7745656	494	I>F		No	ClinGen ExAC TOPMed gnomAD
rs775286573 CA7745657	495	E>A		No	ClinGen ExAC TOPMed gnomAD
rs1331972958 CA393921186	497	T>A		No	ClinGen gnomAD
rs773366161 CA7745660	498	I>V		No	ClinGen ExAC gnomAD
rs1441324712 CA393921248	503	D>E		No	ClinGen gnomAD
rs1370512143 CA393921250	504	L>V		No	ClinGen TOPMed
CA7745682 rs759847373	506	E>D		No	ClinGen ExAC gnomAD
rs375437326 CA7745681	506	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA393921272 rs1350942537	507	H>R		No	ClinGen gnomAD
rs908557347 CA275179208	507	H>Y		No	ClinGen Ensembl
CA7745684 rs117361551	510	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA275179209 rs146029946	511	N>K		No	ClinGen ESP gnomAD
CA393921301 rs1447992030	511	N>T		No	ClinGen gnomAD
rs544203810 CA7745686	512	C>S		No	ClinGen 1000Genomes ExAC gnomAD
rs555926912 CA7745687	513	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs555926912 CA7745688	513	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1003742625 CA275179210	515	I>L		No	ClinGen TOPMed gnomAD
rs139646426 CA7745689	515	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1596787566 CA393921330	516	N>T		No	ClinGen Ensembl
CA393921337 rs1596787611	517	S>P		No	ClinGen Ensembl
CA393921344 rs1458921786	518	T>N		No	ClinGen gnomAD
rs1256080624 CA393921341	518	T>P		No	ClinGen gnomAD
CA393921343 rs1256080624	518	T>S		No	ClinGen gnomAD
rs1596787658 CA393921351	519	F>S		No	ClinGen Ensembl
CA393921359 rs1199099009	520	L>R		No	ClinGen gnomAD
rs755816346 CA7745690	522	Q>R		No	ClinGen ExAC gnomAD
CA275179211 rs890852025	523	K>E		No	ClinGen gnomAD
rs1183848369 CA393921383	524	E>*		No	ClinGen gnomAD
rs779674834 CA7745691	524	E>G		No	ClinGen ExAC gnomAD
CA7745692 rs753645157	525	G>A		No	ClinGen ExAC gnomAD
rs894095304 CA275179212	525	G>C		No	ClinGen TOPMed gnomAD
TCGA novel	527	H>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754785876 CA7745693	528	M>K		No	ClinGen ExAC gnomAD
rs552737688 CA275179214	529	D>H		No	ClinGen Ensembl
rs1466460464 CA393921430	530	L>F		No	ClinGen gnomAD
rs748100066 CA7745695	532	Q>E		No	ClinGen ExAC gnomAD
CA7745696 rs771072396	533	D>A		No	ClinGen ExAC TOPMed gnomAD
rs781440405 CA7745697	534	N>D		No	ClinGen ExAC gnomAD
rs1309175467 CA393921457	534	N>S		No	ClinGen TOPMed
rs1596787931 CA393921491	539	Y>S		No	ClinGen Ensembl
CA275179216 rs1012677758	541	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA7745701 rs763367419	542	S>N		No	ClinGen ExAC gnomAD
rs1319975387 CA393921534	546	S>G		No	ClinGen gnomAD
rs774774084 CA7745703	547	L>M		No	ClinGen ExAC TOPMed gnomAD
CA275179217 rs113897994	548	S>P		No	ClinGen Ensembl
CA275179218 rs888177605	549	V>G		No	ClinGen TOPMed
rs1156229049 CA393921570	552	G>E		No	ClinGen TOPMed
CA275179219 rs528710169	552	G>R		No	ClinGen 1000Genomes
rs1191673453 CA393921624	560	M>I		No	ClinGen TOPMed gnomAD
rs760150371 CA7745707	563	I>T		No	ClinGen ExAC gnomAD
CA7745710 rs34715451	565	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA275179222 rs958890453	567	K>E		No	ClinGen TOPMed gnomAD
rs374633106 CA7745711	568	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel CA7745740 rs748497451	573	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC gnomAD
rs779148028 CA7745739	573	M>T		No	ClinGen ExAC TOPMed gnomAD
CA275179831 rs976889246	573	M>V		No	ClinGen TOPMed
TCGA novel	575	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	575	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200945374 CA7745742	581	F>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200945374 CA393921775	581	F>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA393921788 rs1288321106	583	L>V		No	ClinGen gnomAD
rs1567438858	586	G>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	588	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747484221 CA7745743	589	E>K		No	ClinGen ExAC gnomAD
CA7745744 rs376800845	591	A>V		No	ClinGen ESP ExAC gnomAD
CA393921853 rs1176325292	592	M>I		No	ClinGen gnomAD
rs796545057 CA275179834	592	M>V		No	ClinGen TOPMed gnomAD
rs369552317 CA7745746	593	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs764957590 CA7745747	594	G>S		No	ClinGen ExAC TOPMed gnomAD
CA393921878 rs1265520002	596	Q>*		No	ClinGen TOPMed
rs1596802649 CA393921885	597	C>G		No	ClinGen Ensembl
CA393921895 rs1162182421	598	L>P		No	ClinGen gnomAD
CA7745748 rs775342579	599	F>L		No	ClinGen ExAC gnomAD
rs145084958 CA393921919	602	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA7745750 rs145084958	602	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
COSM2140700 rs751460011 CA7745751	603	S>N	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs761030916 CA7745752 CA393921928	603	S>R		No	ClinGen ExAC gnomAD
CA393921931 rs1213130508	604	I>V		No	ClinGen Ensembl
CA275179836 rs769071845	605	A>E		No	ClinGen Ensembl
CA7745754 rs777128577	606	A>V		No	ClinGen ExAC TOPMed gnomAD
rs372956093 CA393921969	610	L>M		No	ClinGen ESP ExAC gnomAD
rs372956093 CA7745755	610	L>V		No	ClinGen ESP ExAC gnomAD
CA393921983 rs1282459052	612	V>M		No	ClinGen gnomAD
rs1358587519 CA393921995	614	T>A		No	ClinGen gnomAD
CA393922005 rs1245384888	615	V>A		No	ClinGen gnomAD
CA7745758 rs758703671	618	Y>C		No	ClinGen ExAC gnomAD
CA7745757 rs748372902	618	Y>H		No	ClinGen ExAC gnomAD
CA393922026 rs150512068	619	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7745760 rs150512068	619	P>S	Variant assessed as Somatic; 9.247e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs771308440 CA7745761	620	T>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	622	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1235197185 CA393922047	622	Q>R		No	ClinGen gnomAD
rs758646416 CA393922071	624	A>S		No	ClinGen ExAC gnomAD
rs758646416 CA7745775	624	A>T		No	ClinGen ExAC gnomAD
rs972679370 CA275180121	624	A>V		No	ClinGen TOPMed
rs751845057 CA7745777	625	T>I		No	ClinGen ExAC gnomAD
rs751845057 CA393922076	625	T>R		No	ClinGen ExAC gnomAD
CA7745776 rs778093431	625	T>S		No	ClinGen ExAC gnomAD
CA393922082 rs1262363287	626	A>G		No	ClinGen TOPMed gnomAD
CA393922083 rs1262363287	626	A>V		No	ClinGen TOPMed gnomAD
CA275180122 COSM556592 rs369020412	628	G>C	lung [Cosmic]	No	ClinGen cosmic curated ESP TOPMed
CA393922092 rs369020412	628	G>S		No	ClinGen ESP TOPMed
rs1423990495 CA393922122	632	G>V		No	ClinGen gnomAD
TCGA novel	633	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA275180123 rs897523901	634	C>*		No	ClinGen Ensembl
CA7745780 rs746385056	634	C>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	637	G>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM3957074 rs779737104 CA7745782	638	A>T	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA7745784 rs140913713	639	I>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA7745783 rs781772394	639	I>V		No	ClinGen ExAC TOPMed gnomAD
CA393922169 rs1338546038	640	L>M		No	ClinGen gnomAD
CA393922180 rs1402351696	642	N>D		No	ClinGen gnomAD
CA7745785 rs774103333	643	T>I		No	ClinGen ExAC gnomAD
rs772964542 CA7745788	644	I>T		No	ClinGen ExAC gnomAD
CA7745787 rs771903813	644	I>V		No	ClinGen ExAC gnomAD
CA7745789 rs760627260	646	A>P		No	ClinGen ExAC gnomAD
CA393922212 rs1596810506	646	A>V		No	ClinGen Ensembl
CA7745790 rs748616921	647	S>A		No	ClinGen ExAC TOPMed gnomAD
rs752739632 CA7745791	647	S>C		No	ClinGen ExAC gnomAD
rs763065799 CA7745792	648	F>S		No	ClinGen ExAC TOPMed gnomAD
rs1284639167 CA393922219	648	F>V		No	ClinGen gnomAD
CA393922227 rs1218630114	649	V>A		No	ClinGen gnomAD
CA393922257 rs1469155203	654	V>M		No	ClinGen TOPMed
rs764206231 CA7745793	655	V>L		No	ClinGen ExAC gnomAD
rs865909459 CA275180125	656	P>L		No	ClinGen Ensembl
CA393922270 rs1196529301	656	P>T		No	ClinGen gnomAD
rs1478450098 CA393922282	658	L>F		No	ClinGen gnomAD
CA7745794 rs751877393	659	L>V		No	ClinGen ExAC gnomAD
CA275180127 rs373378855	661	A>S		No	ClinGen ESP TOPMed
rs1039333394 CA275180128	662	A>T		No	ClinGen TOPMed
CA7745797 rs750912387	665	V>A		No	ClinGen ExAC gnomAD
CA7745796 rs781630867	665	V>I		No	ClinGen ExAC gnomAD
rs202174970 CA7745798	667	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1332074964 CA393922335	668	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7745800 rs748788705	669	L>P		No	ClinGen ExAC gnomAD
CA393922362 rs1241771468	673	R>*		No	ClinGen gnomAD
CA275180129 rs1018453827	673	R>L		No	ClinGen TOPMed
CA393922363 rs1018453827	673	R>Q		No	ClinGen TOPMed
rs1296700454 CA393922385	677	T>A		No	ClinGen TOPMed
rs747846672 CA7745803	678	R>*		No	ClinGen ExAC gnomAD
rs771711415 CA7745804	678	R>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	678	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1323622758 CA393922419	682	L>P		No	ClinGen TOPMed

No associated diseases with Q7L1I2

1 regional properties for Q7L1I2

Type	Name	Position	InterPro Accession
domain	N-terminal of MaoC-like dehydratase	15 - 137	IPR039569

Functions

		Description
EC Number
Subcellular Localization	Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane ; Multi-pass membrane protein Cytoplasmic vesicle, secretory vesicle, acrosome	Associated with synaptic-like microvesicles but not with insulin-containing vesicles in insulin-secreting cells of the pancreas (By similarity) Localizes to microvesicles in the pinealocytes Localizes to the acrosome in spermatids (By similarity)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

8 GO annotations of cellular component

Name	Definition
acrosomal vesicle	A structure in the head of a spermatozoon that contains acid hydrolases, and is concerned with the breakdown of the outer membrane of the ovum during fertilization. It lies just beneath the plasma membrane and is derived from the lysosome.
anchoring junction	A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix.
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
neuron projection	A prolongation or process extending from a nerve cell, e.g. an axon or dendrite.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
synaptic vesicle	A secretory organelle, typically 50 nm in diameter, of presynaptic nerve terminals; accumulates in high concentrations of neurotransmitters and secretes these into the synaptic cleft by fusion with the 'active zone' of the presynaptic plasma membrane.
synaptic vesicle membrane	The lipid bilayer surrounding a synaptic vesicle.

1 GO annotations of molecular function

Name	Definition
transmembrane transporter activity	Enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other.

2 GO annotations of biological process

Name	Definition
chemical synaptic transmission	The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse.
neurotransmitter transport	The directed movement of a neurotransmitter into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Neurotransmitters are any chemical substance that is capable of transmitting (or inhibiting the transmission of) a nerve impulse from a neuron to another cell.

17 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q17QN9	SLC22A16	Solute carrier family 22 member 16	Bos taurus (Bovine)	PR
Q1JP63	SVOP	Synaptic vesicle 2-related protein	Bos taurus (Bovine)	PR
Q9H015	SLC22A4	Solute carrier family 22 member 4	Homo sapiens (Human)	PR
Q8N4V2	SVOP	Synaptic vesicle 2-related protein	Homo sapiens (Human)	PR
A6NKX4	SLC22A31	Putative solute carrier family 22 member 31	Homo sapiens (Human)	PR
Q496J9	SV2C	Synaptic vesicle glycoprotein 2C	Homo sapiens (Human)	PR
Q9Z0E8	Slc22a5	Solute carrier family 22 member 5	Mus musculus (Mouse)	PR
Q9Z306	Slc22a4	Solute carrier family 22 member 4	Mus musculus (Mouse)	PR
Q9D9E0	Slc22a17	Solute carrier family 22 member 17	Mus musculus (Mouse)	PR
Q8BFT9	Svop	Synaptic vesicle 2-related protein	Mus musculus (Mouse)	PR
Q497L8	Slc22a16	Solute carrier family 22 member 16	Mus musculus (Mouse)	PR
Q69ZS6	Sv2c	Synaptic vesicle glycoprotein 2C	Mus musculus (Mouse)	PR
Q70BM6	SLC22A8	Organic anion transporter 3	Sus scrofa (Pig)	PR
Q9Z2I7	Svop	Synaptic vesicle 2-related protein	Rattus norvegicus (Rat)	PR
Q9Z2I6	Sv2c	Synaptic vesicle glycoprotein 2C	Rattus norvegicus (Rat)	PR
Q9R141	Slc22a4	Solute carrier family 22 member 4	Rattus norvegicus (Rat)	PR
Q7Z118	B0361.11	Putative transporter B0361.11	Caenorhabditis elegans	PR

10	20	30	40	50	60
MDDYKYQDNY	GGYAPSDGYY	RGNESNPEED	AQSDVTEGHD	EEDEIYEGEY	QGIPHPDDVK
70	80	90	100	110	120
AKQAKMAPSR	MDSLRGQTDL	MAERLEDEEQ	LAHQYETIMD	ECGHGRFQWI	LFFVLGLALM
130	140	150	160	170	180
ADGVEVFVVS	FALPSAEKDM	CLSSSKKGML	GMIVYLGMMA	GAFILGGLAD	KLGRKRVLSM
190	200	210	220	230	240
SLAVNASFAS	LSSFVQGYGA	FLFCRLISGI	GIGGALPIVF	AYFSEFLSRE	KRGEHLSWLG
250	260	270	280	290	300
IFWMTGGLYA	SAMAWSIIPH	YGWGFSMGTN	YHFHSWRVFV	IVCALPCTVS	MVALKFMPES
310	320	330	340	350	360
PRFLLEMGKH	DEAWMILKQV	HDTNMRAKGT	PEKVFTVSNI	KTPKQMDEFI	EIQSSTGTWY
370	380	390	400	410	420
QRWLVRFKTI	FKQVWDNALY	CVMGPYRMNT	LILAVVWFAM	AFSYYGLTVW	FPDMIRYFQD
430	440	450	460	470	480
EEYKSKMKVF	FGEHVYGATI	NFTMENQIHQ	HGKLVNDKFT	RMYFKHVLFE	DTFFDECYFE
490	500	510	520	530	540
DVTSTDTYFK	NCTIESTIFY	NTDLYEHKFI	NCRFINSTFL	EQKEGCHMDL	EQDNDFLIYL
550	560	570	580	590	600
VSFLGSLSVL	PGNIISALLM	DRIGRLKMIG	GSMLISAVCC	FFLFFGNSES	AMIGWQCLFC
610	620	630	640	650	660
GTSIAAWNAL	DVITVELYPT	NQRATAFGIL	NGLCKFGAIL	GNTIFASFVG	ITKVVPILLA
670	680
AASLVGGGLI	ALRLPETREQ	VLM