AiPD: Autoinhibited Protein Database

Q5T4B2

Gene name	CERCAM (CEECAM1, GLT25D3, KIAA1502)
Protein name	Inactive glycosyltransferase 25 family member 3
Names	Cerebral endothelial cell adhesion molecule
Species	Homo sapiens (Human)
KEGG Pathway	hsa:51148
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

515-595 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

515-595 (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 Q5T4B2

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q5T4B2-F1	Predicted				AlphaFoldDB

584 variants for Q5T4B2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA375026592 rs1317611142	3	A>P		No	ClinGen gnomAD
CA200366077 rs974652135	4	A>V		No	ClinGen TOPMed gnomAD
CA375026613 rs1348493784	5	R>C		No	ClinGen gnomAD
rs925296740 CA200366100	7	A>T		No	ClinGen Ensembl
CA375026640 rs1179422016	7	A>V		No	ClinGen TOPMed
rs1327192771 CA375026644	8	P>L		No	ClinGen gnomAD
rs1298091239 CA375026668	11	Q>*		No	ClinGen gnomAD
rs1482985236 CA375026710	14	L>P		No	ClinGen TOPMed
CA5261741 rs745802249	15	L>P		No	ClinGen ExAC gnomAD
rs983472984 CA200366125	18	P>L		No	ClinGen TOPMed gnomAD
rs983472984 CA375026766	18	P>R		No	ClinGen TOPMed gnomAD
CA200366121 rs952106533	18	P>S		No	ClinGen TOPMed
CA200366129 rs907927197	23	A>V		No	ClinGen TOPMed gnomAD
CA5261743 rs561749416	24	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1242177599 CA375026901	25	V>A		No	ClinGen gnomAD
CA200366147 rs916730076	25	V>I		No	ClinGen TOPMed gnomAD
rs1472298719 CA375026916	26	A>V		No	ClinGen gnomAD
CA375026924 rs1450211470	27	E>D		No	ClinGen TOPMed
CA375026940 rs1161074954	28	S>L		No	ClinGen TOPMed gnomAD
rs1041231675 CA200366148	29	P>L		No	ClinGen TOPMed gnomAD
CA375026989 rs1463374934	31	P>L		No	ClinGen gnomAD
rs1423440901 CA375027012	33	V>G		No	ClinGen TOPMed
rs1388571520 CA375026999	33	V>M		No	ClinGen gnomAD
CA200366156 rs11788102	34	V>G		No	ClinGen Ensembl
CA5261745 rs768907884	34	V>I		No	ClinGen ExAC gnomAD
rs530770667 CA200366157	35	L>F		No	ClinGen 1000Genomes
CA200366158 rs930229924	37	I>V		No	ClinGen TOPMed gnomAD
CA375027074 rs1447634733	39	A>P		No	ClinGen gnomAD
rs1447634733 CA375027070	39	A>T		No	ClinGen gnomAD
rs1381559359 CA375027089	40	R>L		No	ClinGen gnomAD
CA200366170 rs1006303531	41	N>S		No	ClinGen Ensembl
CA375027222 rs1233675561	45	S>L		No	ClinGen gnomAD
CA375027365 rs1287126500	51	G>D		No	ClinGen TOPMed
rs894892829 CA200366172	53	L>V		No	ClinGen TOPMed gnomAD
rs1024746736 CA200366178	54	E>D		No	ClinGen Ensembl
rs1013329647 CA200366175	54	E>Q		No	ClinGen TOPMed gnomAD
CA5261749 rs750759981	55	R>L		No	ClinGen ExAC gnomAD
rs966976316 CA200366181	55	R>W		No	ClinGen TOPMed gnomAD
CA200366196 rs574762100	57	D>G		No	ClinGen Ensembl
rs891494246 CA200366204	59	P>A		No	ClinGen TOPMed gnomAD
rs1564423864 CA375027546	59	P>H		No	ClinGen Ensembl
CA200366209 rs891494246	59	P>S		No	ClinGen TOPMed gnomAD
CA375027606 rs1411689683	62	R>S		No	ClinGen gnomAD
CA375027654 rs1456155046	64	A>S		No	ClinGen TOPMed gnomAD
rs1456155046 CA375027642	64	A>T		No	ClinGen TOPMed gnomAD
rs1160772793 CA375027662	64	A>V		No	ClinGen TOPMed gnomAD
CA375028668 rs1588614185	67	C>G		No	ClinGen Ensembl
rs371933987 CA5261769 COSM1105562	69	T>M	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1307627926 CA375028717	70	D>H		No	ClinGen gnomAD
rs1368906899 CA375028748	71	H>R		No	ClinGen gnomAD
CA5261771 rs754381761	72	N>S		No	ClinGen ExAC gnomAD
rs11554800 CA200367278	75	N>D		No	ClinGen gnomAD
CA5261774 rs566911694	75	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5261773 rs566911694	75	N>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA375028814 rs1276153006	76	T>I		No	ClinGen gnomAD
rs1347948497 CA375028817	77	T>A		No	ClinGen gnomAD
rs756882538 CA5261775	78	E>D		No	ClinGen ExAC TOPMed gnomAD
CA375028881 rs529788008	82	E>*		No	ClinGen 1000Genomes ExAC gnomAD
CA5261777 rs750228888	82	E>G		No	ClinGen ExAC
rs529788008 CA5261776	82	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1483791367 CA375028894	83	W>*		No	ClinGen TOPMed gnomAD
rs201664355 CA5261779	85	A>G		No	ClinGen ExAC TOPMed gnomAD
CA5261780 rs201664355	85	A>V		No	ClinGen ExAC TOPMed gnomAD
rs754867083 CA5261784	86	A>G		No	ClinGen ExAC gnomAD
rs754867083 CA5261785	86	A>V		No	ClinGen ExAC gnomAD
CA5261787 rs772222429	87	V>G		No	ClinGen ExAC gnomAD
COSM3367567 CA200367325 rs915888047 COSM3367568	87	V>M	kidney [Cosmic]	No	ClinGen cosmic curated TOPMed
CA5261790 rs199936098	89	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs144678421 CA5261791	91	Y>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs144678421 CA5261792	91	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA5261793 rs765727752	92	A>G		No	ClinGen ExAC gnomAD
rs773782846 CA375029007	93	A>G		No	ClinGen ExAC TOPMed gnomAD
rs773782846 CA5261794	93	A>V		No	ClinGen ExAC TOPMed gnomAD
rs761359367 CA5261795	94	V>G		No	ClinGen ExAC gnomAD
rs1385059630 CA375029020	95	V>L		No	ClinGen gnomAD
rs767146225 CA375029048	97	R>K		No	ClinGen ExAC gnomAD
CA5261796 rs767146225	97	R>M		No	ClinGen ExAC gnomAD
CA5261797 rs750065791	98	P>S		No	ClinGen ExAC gnomAD
CA5261798 rs755707845	99	E>K		No	ClinGen ExAC gnomAD
rs778878557 CA5261802	101	E>D		No	ClinGen ExAC TOPMed gnomAD
rs139960136 CA5261801	101	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1356061966 CA375029115	103	R>G		No	ClinGen gnomAD
CA375029120 rs1208382641	103	R>T		No	ClinGen gnomAD
rs1189869174 CA375029195	106	P>A		No	ClinGen TOPMed gnomAD
CA375029197 rs1189869174	106	P>S		No	ClinGen TOPMed gnomAD
TCGA novel	108	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5261824 rs757603080	109	E>D		No	ClinGen ExAC gnomAD
rs1564424947 CA375029260	110	G>R		No	ClinGen Ensembl
CA375029270 rs1215561659	110	G>V		No	ClinGen TOPMed
rs1224972017 CA375029342	114	W>R		No	ClinGen TOPMed
rs770184933 CA5261828	118	R>G		No	ClinGen ExAC gnomAD
CA5261829 rs556586561	118	R>K		No	ClinGen 1000Genomes ExAC gnomAD
rs758715331 CA200367553	118	R>S		No	ClinGen ExAC TOPMed gnomAD
CA5261831 rs768992825	119	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1295544467 CA375029527	123	M>L		No	ClinGen TOPMed gnomAD
rs1356483129 CA375029575	124	E>V		No	ClinGen gnomAD
TCGA novel	125	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375029680 rs1228118611	128	E>G		No	ClinGen gnomAD
CA5261832 rs772754396	129	A>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	130	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776251482 CA5261835	131	T>I		No	ClinGen ExAC gnomAD
CA375029719 rs1588614755	131	T>P		No	ClinGen Ensembl
rs139357437 CA375029797 CA375029807	135	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1305713940 CA375029792	135	N>T		No	ClinGen TOPMed
CA375029840 rs1482618522	137	G>E		No	ClinGen gnomAD
CA375029833 rs1258021263	137	G>R		No	ClinGen gnomAD
rs1419588454 CA375029862	138	A>D		No	ClinGen gnomAD
rs541497554 CA5261837	138	A>T		No	ClinGen ExAC gnomAD
rs1431383945 CA375029876	139	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA200367574 rs11554801	140	Y>C		No	ClinGen Ensembl
CA375029907 rs1375399962	140	Y>H		No	ClinGen gnomAD
CA5261864 rs766476928	144	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1227172922 CA375030137	145	D>N		No	ClinGen gnomAD
rs1263537865 CA375030223	148	N>Y		No	ClinGen TOPMed
rs754290888 CA5261865	149	I>V		No	ClinGen ExAC gnomAD
CA375030261 rs1469721595	150	L>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA5261866 rs768072694	151	T>I		No	ClinGen ExAC gnomAD
CA200368118 rs768072694	151	T>N		No	ClinGen ExAC gnomAD
CA375030291 rs1246873006	152	N>S		No	ClinGen gnomAD
CA5261867 rs779190766	153	N>S		No	ClinGen ExAC TOPMed gnomAD
rs779190766 CA375030313	153	N>T		No	ClinGen ExAC TOPMed gnomAD
CA375030324 rs1187879372	154	Q>K		No	ClinGen gnomAD
rs1322051184 CA375030336	154	Q>L		No	ClinGen TOPMed
CA375030352 rs1419729140	155	T>A		No	ClinGen TOPMed gnomAD
CA5261870 rs780778734	157	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM1173450 CA5261869 COSM1173449 rs758861240	157	R>W	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA375030394 rs1463472737	158	L>I		No	ClinGen gnomAD
rs981962904 CA200368128	160	M>L		No	ClinGen TOPMed gnomAD
CA375030452 rs1440185576 CA375030456	161	G>R		No	ClinGen TOPMed
TCGA novel	162	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs959170698 CA200368152	163	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs150069352 CA5261872	163	G>R		No	ClinGen ESP ExAC gnomAD
rs1272182348	164	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA5261873 rs775002103	164	L>P		No	ClinGen ExAC gnomAD
CA5261874 rs112656695	165	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA375030580 rs1336936534	167	V>L		No	ClinGen gnomAD
rs144617260 CA5261877	170	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5261878 rs144617260	170	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA375030681 rs1588616028	172	D>N		No	ClinGen Ensembl
CA375030765 rs1487463612	175	T>S		No	ClinGen TOPMed gnomAD
CA5261881 rs760663247	178	S>Y	Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA375030885 rs1010532309	181	W>*		No	ClinGen TOPMed gnomAD
CA200368207 CA375030889 rs1010532309	181	W>C		No	ClinGen TOPMed gnomAD
CA375030893 rs1488710163	182	C>R		No	ClinGen TOPMed
TCGA novel	184	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5261884 rs766677962	186	P>S		No	ClinGen ExAC gnomAD
CA5261887 rs146651928	187	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA5261885 rs146651928	187	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA5261886 rs146651928	187	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs780407630	187	Q>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA5261888 rs568388973	187	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1282030867 CA375031065	188	G>D		No	ClinGen TOPMed gnomAD
CA375031069 rs1282030867	188	G>V		No	ClinGen TOPMed gnomAD
CA375031077 rs753352925	189	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs753352925 CA5261912	189	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs757720514 CA5261911	189	Y>H		No	ClinGen ExAC gnomAD
rs757720514 CA5261910	189	Y>N		No	ClinGen ExAC gnomAD
rs962238410 CA200368372	190	Y>F		No	ClinGen Ensembl
rs754714830 CA5261913	191	R>C		No	ClinGen ExAC TOPMed gnomAD
rs778701200 CA5261914	191	R>H		No	ClinGen ExAC TOPMed gnomAD
CA375031099 rs754714830	191	R>S		No	ClinGen ExAC TOPMed gnomAD
CA5261915 rs377710902	192	R>C		No	ClinGen ESP ExAC gnomAD
CA375031118 rs1453902081	192	R>H		No	ClinGen gnomAD
TCGA novel	192	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1343774445 CA375031124	193	T>A		No	ClinGen TOPMed gnomAD
rs771772730 CA5261916	193	T>K		No	ClinGen ExAC gnomAD
rs373601449 CA375031148	195	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs770851192 CA5261919	195	E>G		No	ClinGen ExAC gnomAD
rs373601449 CA5261918	195	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA5261920 rs776740322	196	Y>*		No	ClinGen ExAC gnomAD
rs368947852 CA5261921	197	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1392866727 CA375031915	197	F>S		No	ClinGen gnomAD
TCGA novel	198	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375031918 rs1370075944	198	P>S		No	ClinGen gnomAD
CA375031925 rs1319456431	199	T>A		No	ClinGen TOPMed gnomAD
CA5261922 rs770071245	199	T>I		No	ClinGen ExAC gnomAD
CA200368400 rs75750764	201	N>T		No	ClinGen Ensembl
rs775676220 CA5261923	202	R>C		No	ClinGen ExAC TOPMed gnomAD
CA5261924 rs200144614	202	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5261925 rs143495365	204	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA5261926 rs200371702	204	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs768049790 CA375031961	205	R>P		No	ClinGen ExAC TOPMed gnomAD
CA5261928 rs768049790	205	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs202021528 CA5261927	205	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs913035251 CA200368429	206	G>R		No	ClinGen Ensembl
COSM85185 CA5261929 rs753463205	209	R>C	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA5261930 rs148040801	209	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA5261931 rs148040801	209	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1254959261 CA375031998	211	P>L		No	ClinGen gnomAD
rs752398987 CA5261932	213	V>A		No	ClinGen ExAC gnomAD
rs1371514762 CA375032025	215	S>C		No	ClinGen TOPMed gnomAD
rs1463338211 CA375032032	216	T>N		No	ClinGen gnomAD
rs1314379372 CA375032043	218	L>F		No	ClinGen TOPMed
rs61732491 CA5261933	219	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1588616553 CA375032057	220	S>F		No	ClinGen Ensembl
CA5261936 rs770815760	222	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs374569794 CA5261935	222	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA5261937 rs781104554	224	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA375032075 rs1407114600	224	E>V		No	ClinGen TOPMed gnomAD
TCGA novel	226	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1327757862 CA375032085	226	A>T		No	ClinGen gnomAD
rs150130953 CA5261939	228	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs746005447 CA5261938	228	Q>R		No	ClinGen ExAC gnomAD
rs199949999 CA200368488	231	F>I		No	ClinGen TOPMed gnomAD
rs199949999 CA375032121	231	F>L		No	ClinGen TOPMed gnomAD
CA375032135 rs1468989519	232	Y>H		No	ClinGen TOPMed gnomAD
CA5261942 rs768877508	232	Y>S		No	ClinGen ExAC gnomAD
rs774630242 CA5261943	233	P>A		No	ClinGen ExAC TOPMed gnomAD
rs762229816 CA5261944	233	P>L		No	ClinGen ExAC TOPMed gnomAD
CA375032150 rs762229816	233	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA5261946 rs773864248	234	P>Q		No	ClinGen ExAC gnomAD
rs764869696 CA5261948	235	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1285647954 CA375032186	236	P>A		No	ClinGen TOPMed
CA375032204 rs1452431553	237	N>S		No	ClinGen gnomAD
CA5261949 rs752201881	239	T>A		No	ClinGen ExAC gnomAD
CA200368523 rs1015027578	239	T>I		No	ClinGen gnomAD
rs1246221410 CA860261504	240	W>*		No	ClinGen TOPMed
CA5261950 rs543750319	240	W>C		No	ClinGen 1000Genomes ExAC gnomAD
rs986531908 CA200368540	242	F>S		No	ClinGen TOPMed
rs751378657 CA5261952	243	D>N		No	ClinGen ExAC TOPMed gnomAD
CA375032353 rs1322757381	244	D>N		No	ClinGen TOPMed
CA375032374 rs1376552477	245	I>L		No	ClinGen gnomAD
rs201851324 CA5261956	247	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1238498123 CA375032456	248	F>C		No	ClinGen gnomAD
rs756008871 CA5261957	248	F>V		No	ClinGen ExAC gnomAD
rs374800255 CA5261961	249	A>S		No	ClinGen ESP ExAC gnomAD
rs374800255 CA5261960	249	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA375032498 rs1257022353	250	Y>C		No	ClinGen gnomAD
CA375032491 rs1217591194	250	Y>N		No	ClinGen gnomAD
rs1189725218 CA375032515	251	A>G		No	ClinGen gnomAD
CA200368580 rs768476130	251	A>T		No	ClinGen gnomAD
rs1418507171 CA375032535	253	Q>*		No	ClinGen gnomAD
CA5261964 rs147247913	255	A>V		No	ClinGen ESP ExAC gnomAD
rs774453756 CA200370775	256	G>V		No	ClinGen gnomAD
rs1306729290 CA375033541	257	V>F		No	ClinGen gnomAD
rs1253020236 CA375033556	258	S>A		No	ClinGen gnomAD
CA375033571 rs778329192	259	V>F		No	ClinGen ExAC TOPMed gnomAD
CA5261983 rs778329192	259	V>I		No	ClinGen ExAC TOPMed gnomAD
COSM1733116 CA5261985 COSM1733117 rs139025492	261	V>M	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA5261988 rs761876160	263	N>I		No	ClinGen ExAC TOPMed gnomAD
CA5261987 rs761876160	263	N>S		No	ClinGen ExAC TOPMed gnomAD
rs773695103 CA5261989	265	H>L		No	ClinGen ExAC TOPMed gnomAD
CA5261990 rs761479226	265	H>Q		No	ClinGen ExAC gnomAD
CA5261991 rs767136791	266	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs767136791 CA375033689	266	R>G		No	ClinGen ExAC TOPMed gnomAD
COSM1105565 CA5261992 COSM1598057 rs750262211	266	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA375033718 rs1588621931	267	Y>*		No	ClinGen Ensembl
rs767833238 CA5261994	267	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs997064592 CA200370826	268	G>E		No	ClinGen gnomAD
TCGA novel	270	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs955282776 CA200370841	270	M>T		No	ClinGen TOPMed
rs766026779 CA5261995	270	M>V		No	ClinGen ExAC TOPMed gnomAD
rs753813668 CA5261996	273	P>L		No	ClinGen ExAC TOPMed gnomAD
rs753813668 CA375033818	273	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1293362885 CA375033808	273	P>T		No	ClinGen gnomAD
rs763702043 CA5262000	274	V>A		No	ClinGen ExAC TOPMed gnomAD
rs779068801 CA5261998	274	V>L		No	ClinGen ExAC gnomAD
CA5261999 rs779068801	274	V>M		No	ClinGen ExAC gnomAD
rs1230344316 CA375033853	275	K>I		No	ClinGen TOPMed
rs778136975 CA5262001	277	H>P		No	ClinGen ExAC TOPMed gnomAD
rs1212962308 CA375033879	277	H>Y		No	ClinGen gnomAD
CA5262002 rs143158025	279	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs538548415 CA5262004	282	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5262006 COSM331651 rs770153869	283	E>K	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA5262007 rs201052338	284	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1588622052 CA375033958	285	V>G		No	ClinGen Ensembl
rs1164861767 CA375033953	285	V>I		No	ClinGen gnomAD
CA5262008 rs761285367	286	N>T		No	ClinGen ExAC
rs1463092127 CA375033973	287	F>L		No	ClinGen gnomAD
TCGA novel	293	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5262012 rs144721980	294	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	294	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753523884 CA5262013	295	L>R		No	ClinGen ExAC TOPMed gnomAD
rs11554802 CA5262039	298	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1598056 COSM1105566 CA5262040 rs370335224	300	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA5262041 rs370335224	300	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs142932796 CA5262042	300	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA375034663 rs1434340612	301	M>I		No	ClinGen gnomAD
CA5262043 rs201405772	301	M>L		No	ClinGen ExAC gnomAD
CA375034636 rs201405772	301	M>V		No	ClinGen ExAC gnomAD
rs150660294 CA5262044	303	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1404060176 CA375034729	305	A>S		No	ClinGen gnomAD
rs755426209 CA5262045	305	A>V		No	ClinGen ExAC gnomAD
rs746468482 CA5262047	306	H>L		No	ClinGen ExAC gnomAD
CA5262048 rs770681685	306	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs777311053 CA5262046	306	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1261756670 CA375034797	308	T>S		No	ClinGen TOPMed
CA375034812 rs143862996	309	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA5262051 rs143862996	309	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA5262050 rs780903439	309	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs775385350 CA5262052	312	K>Q		No	ClinGen ExAC gnomAD
rs763009249 CA5262053	313	R>T		No	ClinGen ExAC gnomAD
rs1320194522 CA375034921	315	S>G		No	ClinGen TOPMed
CA375034923 rs1320194522	315	S>R		No	ClinGen TOPMed
rs893708771 CA200375011	316	K>R		No	ClinGen TOPMed gnomAD
CA200375016 rs544572805	317	I>L		No	ClinGen Ensembl
CA375034974 rs1436569055	317	I>M		No	ClinGen gnomAD
CA200375019 rs1010855539	318	G>A		No	ClinGen TOPMed
CA5262054 rs764102843	318	G>R		No	ClinGen ExAC gnomAD
CA5262055 rs774616321	319	F>L		No	ClinGen ExAC TOPMed gnomAD
CA5262057 rs767841465	319	F>S		No	ClinGen ExAC TOPMed gnomAD
CA5262056 rs774616321	319	F>V		No	ClinGen ExAC TOPMed gnomAD
rs756316111 COSM1151227 CA5262059 COSM752622	321	E>K	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs62587137 CA200375152	322	V>G		No	ClinGen Ensembl
CA5262087 rs779851294	322	V>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	323	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA200375156 rs923428306	324	V>D		No	ClinGen Ensembl
rs1267268245 CA375035315	324	V>I		No	ClinGen gnomAD
rs1457513259 CA375035355	325	I>N		No	ClinGen TOPMed
rs1271116483 CA375035391	326	S>N		No	ClinGen TOPMed
rs1357383593 CA375035435	327	L>Q		No	ClinGen gnomAD
CA375035446 rs1204795227	328	A>T		No	ClinGen gnomAD
CA5262089 rs768588550	328	A>V		No	ClinGen ExAC TOPMed gnomAD
rs778706859 CA5262090	329	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5262091 rs748054332	329	R>H		No	ClinGen ExAC TOPMed gnomAD
CA375035492 rs748054332	329	R>P		No	ClinGen ExAC TOPMed gnomAD
CA375035552 rs1256787673	332	D>G		No	ClinGen gnomAD
rs1474180824 CA375035565	333	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs773201835 CA5262093	333	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA375035591 rs760737375	334	R>G		No	ClinGen ExAC TOPMed gnomAD
CA5262096 rs771197914	334	R>P		No	ClinGen ExAC TOPMed gnomAD
CA5262095 rs771197914	334	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5262094 rs760737375	334	R>W		No	ClinGen ExAC TOPMed gnomAD
CA5262097 rs761539491	336	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs371749434 CA5262098	336	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA375035664 rs1299174417	337	M>V		No	ClinGen TOPMed gnomAD
CA5262100 rs763419441	339	A>P		No	ClinGen ExAC TOPMed gnomAD
CA5262101 rs763419441	339	A>S		No	ClinGen ExAC TOPMed gnomAD
rs763419441 CA5262102	339	A>T		No	ClinGen ExAC TOPMed gnomAD
CA5262103 rs755674758	340	S>L		No	ClinGen ExAC TOPMed gnomAD
CA200375200 rs755674758	340	S>W		No	ClinGen ExAC TOPMed gnomAD
CA5262105 rs753549343	341	L>F		No	ClinGen ExAC gnomAD
TCGA novel	342	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1284160953 CA375035800	344	M>V		No	ClinGen gnomAD
CA5262106 rs754624787	345	E>A		No	ClinGen ExAC gnomAD
CA375035845 rs778618421	346	I>L		No	ClinGen ExAC TOPMed gnomAD
rs778618421 CA5262107	346	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1588623070 CA375035933	350	V>G		No	ClinGen Ensembl
rs969340407 CA200375228	350	V>M		No	ClinGen Ensembl
rs1418004944 CA375035951	352	D>N		No	ClinGen gnomAD
rs758331364 CA5262109	353	A>T		No	ClinGen ExAC gnomAD
rs1419925972 CA375035999	356	G>D		No	ClinGen gnomAD
CA375036007 rs1375242966	357	W>*		No	ClinGen gnomAD
CA375036006 rs1159677679	357	W>R		No	ClinGen gnomAD
rs776344054 CA5262145	359	L>F		No	ClinGen ExAC TOPMed gnomAD
rs949683943 CA200376921	360	N>S		No	ClinGen gnomAD
TCGA novel	368	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5262147 rs143305223	368	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5262149 rs762471973	369	V>I		No	ClinGen ExAC gnomAD
CA375036586 rs1348423532	370	D>H		No	ClinGen gnomAD
CA5262150 rs763899324	370	D>V		No	ClinGen ExAC gnomAD
rs369738383 CA375036604	371	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1361050052 CA375036609	371	L>R		No	ClinGen gnomAD
rs369738383 CA5262151	371	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA5262152 rs757226523 COSM1650867 COSM1650866	373	P>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs757226523 CA5262153	373	P>R		No	ClinGen ExAC TOPMed gnomAD
CA375036648 rs1232217912	374	G>D		No	ClinGen gnomAD
CA5262155 rs756220293	374	G>S		No	ClinGen ExAC gnomAD
CA5262157 rs537351785	375	Y>*		No	ClinGen 1000Genomes ExAC gnomAD
CA5262156 rs568590861	375	Y>H		No	ClinGen 1000Genomes ExAC gnomAD
CA5262158 rs373511896	377	D>H		No	ClinGen ESP ExAC gnomAD
rs1241120502 CA375036715	378	P>A		No	ClinGen gnomAD
CA375036721 rs1488172888	378	P>L		No	ClinGen gnomAD
rs748513035 COSM1200844 COSM1200843 CA5262160	380	S>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs748513035 CA200377022	380	S>W		No	ClinGen ExAC TOPMed gnomAD
CA5262162 rs773862156	381	G>A		No	ClinGen ExAC gnomAD
CA375036764 rs1162783935	381	G>R		No	ClinGen gnomAD
CA5262163 rs149051520	382	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
COSM343381 rs1165754038 CA375036784	382	R>H	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA375036793 rs965957147	383	T>P		No	ClinGen Ensembl
CA200377041 rs965957147	383	T>S		No	ClinGen Ensembl
rs763713592 CA5262167	384	L>P		No	ClinGen ExAC gnomAD
rs943616104 CA200377065	385	T>I		No	ClinGen TOPMed
TCGA novel	387	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs143132409 CA5262168	387	G>S		No	ClinGen ESP ExAC gnomAD
CA200377075 rs767230814	388	E>*		No	ClinGen ExAC TOPMed gnomAD
rs920899769 CA200377077	388	E>D		No	ClinGen TOPMed
rs767230814 CA5262170	388	E>K		No	ClinGen ExAC TOPMed gnomAD
rs138785534 CA5262171	389	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA5262172 rs148321495	391	C>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753844591 CA5262174	395	H>Q		No	ClinGen ExAC gnomAD
CA5262175 rs755288938	397	S>A		No	ClinGen ExAC gnomAD
rs376695810 CA5262176	399	W>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1187490111 CA375037038	400	E>K		No	ClinGen gnomAD
rs1367149078 CA375037071	401	E>G		No	ClinGen TOPMed
CA5262198 rs747314330	402	V>L		No	ClinGen ExAC gnomAD
rs757840914 CA5262199	403	V>F		No	ClinGen ExAC TOPMed gnomAD
CA5262200 rs781545820	404	A>V		No	ClinGen ExAC gnomAD
rs551849112 CA5262201	405	R>K		No	ClinGen 1000Genomes ExAC gnomAD
rs773799994 CA5262203	406	G>D		No	ClinGen ExAC gnomAD
CA375037700 rs1283980118	407	L>P		No	ClinGen TOPMed
CA5262206 rs147009468	409	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs776156593 CA5262205	409	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	412	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1351070908 CA375037773	415	D>N		No	ClinGen Ensembl
rs766133803 CA5262208	417	V>M		No	ClinGen ExAC TOPMed gnomAD
CA5262209 rs148628855	418	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5262210 rs141407199	418	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs534312335 CA5262211	421	S>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA375037838 rs534312335	421	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA200379468 rs939010036	421	S>R		No	ClinGen Ensembl
rs752793645 CA5262212	422	N>S		No	ClinGen ExAC gnomAD
CA5262213 rs553943859	424	R>G		No	ClinGen 1000Genomes ExAC gnomAD
rs764208324 CA5262214 CA375037918	425	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC TOPMed gnomAD NCI-TCGA
CA5262216 rs757564903	426	R>Q		No	ClinGen ExAC gnomAD
CA5262215 rs374673314	426	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1444119142 CA375037957	427	L>P		No	ClinGen TOPMed
rs114084202 CA5262219	429	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5262218 rs114084202	429	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM3784199 COSM3784200 rs372180473 CA5262217	429	R>W	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA375038032 rs1325054182	431	M>R		No	ClinGen gnomAD
CA375038029 rs1325054182	431	M>T		No	ClinGen gnomAD
CA5262220 rs778431750	431	M>V		No	ClinGen ExAC gnomAD
rs1241969807 CA375038085	433	D>E		No	ClinGen TOPMed
CA375038104 rs1333219916	434	V>A		No	ClinGen gnomAD
rs71497697 CA200379532	435	E>K		No	ClinGen Ensembl
CA375038160 COSM3432878 rs1414572839 COSM3432877	437	E>D	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs747630906 CA5262221	439	L>M		No	ClinGen ExAC gnomAD
CA375038211 rs1214101100	440	S>A		No	ClinGen TOPMed
TCGA novel	440	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5262222 rs771784043	442	D>N		No	ClinGen ExAC
CA5262224 rs376824941	443	L>M		No	ClinGen ESP ExAC TOPMed
CA375038319 rs1220620066	444	I>S		No	ClinGen gnomAD
CA375038317 rs1220620066	444	I>T		No	ClinGen gnomAD
rs1255301779 CA375038460	446	L>F		No	ClinGen gnomAD
CA5262243 rs770587623	447	G>R		No	ClinGen ExAC TOPMed gnomAD
CA5262245 rs529782145	448	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA375038503 rs769918619	448	R>L		No	ClinGen ExAC TOPMed gnomAD
CA5262246 rs769918619	448	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs529782145 CA5262244	448	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs762924138 CA5262248	450	Q>H		No	ClinGen ExAC gnomAD
COSM403127 rs369784853 CA200379851	451	V>L	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA5262249 rs369784853	451	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA375038550 rs1402052665 CA375038552	452	N>K		No	ClinGen TOPMed gnomAD
CA5262254 rs367921792	457	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5262253 rs367921792	457	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA375038610 rs1394432187	457	T>S		No	ClinGen TOPMed gnomAD
rs754367815 CA5262258	459	V>L		No	ClinGen ExAC TOPMed gnomAD
rs754367815 CA5262257	459	V>M		No	ClinGen ExAC TOPMed gnomAD
rs777189294 CA5262259	460	E>G		No	ClinGen ExAC
rs756919056 CA5262261	463	P>L		No	ClinGen ExAC gnomAD
CA5262263 rs201652666	465	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201652666 CA5262264	465	L>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5262268 rs768603893	472	Y>*		No	ClinGen ExAC gnomAD
rs749213348 CA5262267	472	Y>C		No	ClinGen ExAC gnomAD
rs1381709950 CA375038746	472	Y>H		No	ClinGen gnomAD
CA375038752 rs749213348	472	Y>S		No	ClinGen ExAC gnomAD
rs571686461 CA5262269	474	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1305055316 CA375038822	475	L>Q		No	ClinGen gnomAD
rs772076642 CA5262271	476	A>S		No	ClinGen ExAC TOPMed gnomAD
rs1329576595 CA375038848	477	Y>H		No	ClinGen TOPMed gnomAD
rs1348182654 CA375038881	478	A>V		No	ClinGen TOPMed gnomAD
rs1379378936 CA375038908	480	R>C		No	ClinGen gnomAD
CA5262272 COSM1166378 COSM1166379 rs201435782	480	R>H	oesophagus large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs200590919 CA5262273	481	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA375038943 rs1353261719	482	A>P		No	ClinGen TOPMed
rs143927021 CA5262274	482	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs879032289 CA200380063	483	G>R		No	ClinGen TOPMed
rs879032289 CA200380052	483	G>S		No	ClinGen TOPMed
CA5262276 rs111695514	485	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5262277 rs368341929	485	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA200380069 rs368341929	485	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA375039013 rs1239684924	486	K>E		No	ClinGen TOPMed gnomAD
CA375039035 rs1042392790	487	L>M		No	ClinGen TOPMed gnomAD
CA200380075 rs1042392790	487	L>V		No	ClinGen TOPMed gnomAD
CA375039059 rs1156408259	489	A>T		No	ClinGen TOPMed
CA5262279 rs756795595	489	A>V		No	ClinGen ExAC TOPMed gnomAD
CA375039089 rs1178873787	490	S>*		No	ClinGen TOPMed gnomAD
rs898513019 CA200380087	490	S>A		No	ClinGen Ensembl
CA375039091 rs1178873787	490	S>L		No	ClinGen TOPMed gnomAD
rs767078078 CA5262280	491	Q>E		No	ClinGen ExAC gnomAD
rs995538994 CA200380128	493	L>Q		No	ClinGen Ensembl
rs1402783552 CA375039129	493	L>V		No	ClinGen TOPMed gnomAD
CA5262283 rs372372318	494	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs201729613 CA5262284	494	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs147760985 CA5262285	495	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5262286 rs142520790	495	R>H	Variant assessed as Somatic; 9.99e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA5262287 rs142520790	495	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5262290 rs747274722	499	V>A		No	ClinGen ExAC TOPMed
rs773237748 CA5262289	499	V>M		No	ClinGen ExAC TOPMed gnomAD
CA375039266 rs1296008975	501	E>A		No	ClinGen TOPMed
rs150918802 CA5262292	501	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA375039252 rs150918802	501	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs765454093 CA5262294	503	L>V		No	ClinGen ExAC gnomAD
CA375039320 rs1477763834	504	P>L		No	ClinGen gnomAD
rs1270318608 CA375039310	504	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA5262296 rs763319252	505	I>L		No	ClinGen ExAC TOPMed gnomAD
rs767165737 CA5262297	506	M>R		No	ClinGen ExAC TOPMed gnomAD
CA375039394 rs371211758	508	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs371211758 CA5262299	508	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA375039420 rs1303531697	509	Q>E		No	ClinGen gnomAD
CA5262300 CA375039433 rs766114209	509	Q>H		No	ClinGen ExAC gnomAD
CA375039454 rs1398093174	510	H>Q		No	ClinGen gnomAD
rs753638794 CA5262301	511	P>S		No	ClinGen ExAC gnomAD
CA375040140 rs1399699029	513	E>G		No	ClinGen TOPMed
CA5262326 rs141311873	513	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs781082950 CA5262328	516	K>R		No	ClinGen ExAC TOPMed gnomAD
CA375040169 rs1452644957	517	A>T		No	ClinGen TOPMed gnomAD
CA200380907 rs1011964939	518	H>Y		No	ClinGen TOPMed gnomAD
rs1374187542 CA375040194	520	W>*		No	ClinGen gnomAD
rs1281609277 CA375040204	522	R>Q		No	ClinGen gnomAD
CA5262329 rs576994890	522	R>W		No	ClinGen 1000Genomes ExAC gnomAD
rs1165183041 CA375040227	526	A>P		No	ClinGen TOPMed
CA5262333 rs758697542	527	F>S		No	ClinGen ExAC TOPMed gnomAD
CA5262332 rs753075107	527	F>V		No	ClinGen ExAC TOPMed gnomAD
rs774998694 CA5262334	528	S>F		No	ClinGen ExAC gnomAD
rs770509829 CA375040243	529	A>P		No	ClinGen ExAC gnomAD
COSM1460238 rs770509829 COSM1460239 CA5262336	529	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA5262337 rs546058606	530	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1268003091 CA375040259	531	P>L		No	ClinGen gnomAD
CA200380948 rs944982333	531	P>S		No	ClinGen Ensembl
CA375040272 rs752557689	534	A>S		No	ClinGen ExAC TOPMed gnomAD
CA5262340 rs752557689	534	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1392752601 CA375040274	534	A>V		No	ClinGen gnomAD
CA375040284 rs1329066293	536	P>S		No	ClinGen gnomAD
CA5262341 rs138214931	537	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs757101103 CA5262344	538	H>N		No	ClinGen ExAC TOPMed gnomAD
CA5262345 rs767675424	538	H>R		No	ClinGen ExAC gnomAD
rs757101103 CA200380973	538	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA5262346 rs750447373	540	A>D		No	ClinGen ExAC
CA375040308 rs1224245872	540	A>S		No	ClinGen gnomAD
rs770566413 CA200381002	541	G>R		No	ClinGen TOPMed gnomAD
rs780131374 CA5262348	542	D>V		No	ClinGen ExAC gnomAD
CA5262351 rs779383934	543	A>D		No	ClinGen ExAC TOPMed gnomAD
COSM1238495 CA5262350 COSM1238494 rs143658564	543	A>T	oesophagus [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs369561588 CA5262353	544	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA375040339 rs1464743380	545	W>*		No	ClinGen TOPMed
rs755417430 CA5262354	546	L>DGVLPCWSG*		No	ClinGen ExAC
CA5262355 rs776267066	547	S>G		No	ClinGen ExAC gnomAD
TCGA novel	547	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1389545661 CA375040367	549	T>A		No	ClinGen gnomAD
rs769282187 CA5262358	549	T>M		No	ClinGen ExAC gnomAD
CA5262357 rs769282187	549	T>R		No	ClinGen ExAC gnomAD
TCGA novel	553	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375040395 rs1278079834	553	S>F		No	ClinGen TOPMed gnomAD
CA375040393 rs1278079834	553	S>Y		No	ClinGen TOPMed gnomAD
rs1377486274 CA375040401	554	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA375040396 rs1464308405	554	P>S		No	ClinGen gnomAD
rs1197350456 CA375040498	559	S>G		No	ClinGen TOPMed
CA200381134 rs982939506	560	G>A		No	ClinGen TOPMed
CA5262364 rs376945364	560	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs756148997 CA5262365	561	R>C		No	ClinGen ExAC TOPMed gnomAD
rs375792934 CA5262366	561	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs754132205 CA375040570	563	I>L		No	ClinGen ExAC gnomAD
rs754132205 CA5262367	563	I>V		No	ClinGen ExAC gnomAD
rs1275393231 CA375040591	564	S>C		No	ClinGen TOPMed
CA375040593 rs1215811100	564	S>N		No	ClinGen gnomAD
rs1260862470 CA375040618	565	W>*		No	ClinGen gnomAD
TCGA novel	565	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778783636 CA5262370	567	G>R		No	ClinGen ExAC TOPMed gnomAD
rs778783636 CA5262369 COSM1200846 COSM1200845	567	G>S	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs759011074 CA5262371	567	G>V		No	ClinGen ExAC gnomAD
rs747493650 CA5262374	568	S>Y		No	ClinGen ExAC gnomAD
rs769211396 CA5262375	569	Q>P		No	ClinGen ExAC
rs1588631696 CA375040707	571	T>P		No	ClinGen Ensembl
CA5262377 COSM1284098 rs201331661 COSM1284097	573	R>C	Variant assessed as Somatic; 0.0 impact. autonomic_ganglia [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs768275632 CA5262378	573	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1588631719 CA375040741	574	S>R		No	ClinGen Ensembl
CA5262380 rs1046307	575	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs558299696 CA5262381	576	R>C		No	ClinGen ExAC TOPMed gnomAD
CA375040778 COSM1155083 rs1244088649 COSM1105574	576	R>H	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1244088649 CA375040782	576	R>L		No	ClinGen TOPMed gnomAD
rs1317340792 CA375040786	577	L>V		No	ClinGen gnomAD
rs1588631764 CA375040804	578	D>A		No	ClinGen Ensembl
CA5262382 rs773034284	580	T>I		No	ClinGen ExAC gnomAD
CA375040860 rs1205255974	582	S>N		No	ClinGen gnomAD
CA375040878 rs1431092206	583	S>N		No	ClinGen gnomAD
rs1172204809 CA375040894	584	G>E		No	ClinGen TOPMed
CA5262384 rs145041483	584	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA375040900 rs1588631817	585	H>D		No	ClinGen Ensembl
CA375040907 rs1588631824	585	H>R		No	ClinGen Ensembl
rs753947924 CA5262385	586	S>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	586	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5262386 rs138979096	586	S>R		No	ClinGen ESP ExAC gnomAD
COSM3699439 rs75704806 CA5262387 COSM3699440	587	L>F	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA375040940 rs1158414025	587	L>P		No	ClinGen gnomAD
CA375040966 rs1159607485	589	P>T		No	ClinGen gnomAD
CA5262390 rs778152748	590	Q>P		No	ClinGen ExAC gnomAD
TCGA novel	591	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1450463782 CA375041002	591	P>S		No	ClinGen gnomAD
CA5262391 rs752039692	592	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5262392 rs372270135	592	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1234736145 CA375041025	593	D>N		No	ClinGen TOPMed
CA5262393 rs146354416	595	L>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD

No associated diseases with Q5T4B2

No regional properties for Q5T4B2

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q5T4B2

Functions

		Description
EC Number
Subcellular Localization	Endoplasmic reticulum lumen
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
endoplasmic reticulum lumen	The volume enclosed by the membranes of the endoplasmic reticulum.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

1 GO annotations of molecular function

Name	Definition
identical protein binding	Binding to an identical protein or proteins.

2 GO annotations of biological process

Name	Definition
cell adhesion	The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules.
leukocyte cell-cell adhesion	The attachment of a leukocyte to another cell via adhesion molecules.

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
A7MB73	CERCAM	Probable inactive glycosyltransferase 25 family member 3	Bos taurus (Bovine)	PR
Q8IPK4	CG31915	Glycosyltransferase 25 family member	Drosophila melanogaster (Fruit fly)	PR
O60568	PLOD3	Multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3	Homo sapiens (Human)	PR
A3KGW5	Cercam	Inactive glycosyltransferase 25 family member 3	Mus musculus (Mouse)	PR
Q20679	let-268	Multifunctional procollagen lysine hydroxylase and glycosyltransferase	Caenorhabditis elegans	PR

10	20	30	40	50	60
MRAARAAPLL	QLLLLLGPWL	EAAGVAESPL	PAVVLAILAR	NAEHSLPHYL	GALERLDYPR
70	80	90	100	110	120
ARMALWCATD	HNVDNTTEML	QEWLAAVGDD	YAAVVWRPEG	EPRFYPDEEG	PKHWTKERHQ
130	140	150	160	170	180
FLMELKQEAL	TFARNWGADY	ILFADTDNIL	TNNQTLRLLM	GQGLPVVAPM	LDSQTYYSNF
190	200	210	220	230	240
WCGITPQGYY	RRTAEYFPTK	NRQRRGCFRV	PMVHSTFLAS	LRAEGADQLA	FYPPHPNYTW
250	260	270	280	290	300
PFDDIIVFAY	ACQAAGVSVH	VCNEHRYGYM	NVPVKSHQGL	EDERVNFIHL	ILEALVDGPR
310	320	330	340	350	360
MQASAHVTRP	SKRPSKIGFD	EVFVISLARR	PDRRERMLAS	LWEMEISGRV	VDAVDGWMLN
370	380	390	400	410	420
SSAIRNLGVD	LLPGYQDPYS	GRTLTKGEVG	CFLSHYSIWE	EVVARGLARV	LVFEDDVRFE
430	440	450	460	470	480
SNFRGRLERL	MEDVEAEKLS	WDLIYLGRKQ	VNPEKETAVE	GLPGLVVAGY	SYWTLAYALR
490	500	510	520	530	540
LAGARKLLAS	QPLRRMLPVD	EFLPIMFDQH	PNEQYKAHFW	PRDLVAFSAQ	PLLAAPTHYA
550	560	570	580	590
GDAEWLSDTE	TSSPWDDDSG	RLISWSGSQK	TLRSPRLDLT	GSSGHSLQPQ	PRDEL