AiPD: Autoinhibited Protein Database

Q9Y5B6

Gene name	PAXBP1 (C21orf66, GCFC, GCFC1)
Protein name	PAX3- and PAX7-binding protein 1
Names	GC-rich sequence DNA-binding factor 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:94104
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

114-192 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

114-192 (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 Q9Y5B6

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9Y5B6-F1	Predicted				AlphaFoldDB

591 variants for Q9Y5B6

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1172045209 CA410103817	5	A>S		No	gnomAD ClinGen
CA319475031 rs200765097	6	R>Q		No	1000Genomes ClinGen
rs1386039676 CA410103812	6	R>W		No	ClinGen TOPMed
CA319475029 rs78056479	7	R>G		No	gnomAD ClinGen
CA410103802 rs931127037	8	V>E		No	ClinGen gnomAD
CA319475027 rs931127037	8	V>G		No	ClinGen gnomAD
rs1426046320 CA410103797	9	N>S		No	ClinGen gnomAD
CA410103792 rs1194728991	10	V>L		No	gnomAD ClinGen
CA410103769 rs1477626593	13	R>P		No	ClinGen gnomAD
rs1378811281 CA410103767	14	N>H		No	TOPMed ClinGen
rs754731325 CA10004962	14	N>K		No	ExAC gnomAD ClinGen
CA410103758 rs1213427645	15	D>N		No	ClinGen gnomAD
COSM1208005 rs1336549755 CA410103732	18	E>D	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA410103717 rs946796511	20	E>D		No	gnomAD ClinGen
rs1047606673 CA319475024	20	E>Q		No	TOPMed gnomAD ClinGen
rs1279310132 CA410103714	21	R>W		No	ClinGen gnomAD
rs933227874 CA410103710	22	E>K		No	TOPMed gnomAD ClinGen
rs933227874 CA319475020	22	E>Q		No	ClinGen TOPMed gnomAD
rs1320868756 CA410103701	23	R>C		No	ClinGen gnomAD
CA410103687 rs1279554156	25	E>*		No	ClinGen gnomAD
CA410103685 rs1266575693	25	E>A		No	TOPMed ClinGen
rs1360869018 CA410103676	26	E>A		No	TOPMed gnomAD ClinGen
rs1360869018 CA410103677	26	E>G		No	TOPMed gnomAD ClinGen
rs1212340375 CA410103681	26	E>K		No	ClinGen TOPMed
CA410103663 rs1450692610	28	E>*		No	ClinGen gnomAD
rs1360217704 CA410103652	29	P>L		No	TOPMed gnomAD ClinGen
CA410103654 rs1360217704	29	P>Q		No	ClinGen TOPMed gnomAD
CA410103649 rs1336728324	30	P>T		No	gnomAD ClinGen
rs779718749 CA10004960	31	P>L		No	ExAC ClinGen
rs1417515159 CA410103637	32	L>S		No	ClinGen gnomAD
CA410103627 rs1416797728	33	L>F		No	TOPMed ClinGen
rs916747644 CA319475014	34	P>A		No	ClinGen TOPMed gnomAD
rs916747644 CA410103624	34	P>S		No	ClinGen TOPMed gnomAD
CA410103615 rs1465265381	35	P>L		No	ClinGen gnomAD
CA319475011 rs911285648	36	P>L		No	TOPMed gnomAD ClinGen
CA319475012 rs911285648	36	P>Q		No	ClinGen TOPMed gnomAD
CA410103607 rs758373861	37	G>A		No	ExAC TOPMed gnomAD ClinGen
rs758373861 CA10004958	37	G>D		No	ClinGen ExAC TOPMed gnomAD
CA10004957 rs750353318	38	T>A		No	ExAC TOPMed gnomAD ClinGen
CA410103603 rs1182847491	38	T>M		No	gnomAD ClinGen
rs750353318 CA410103605	38	T>P		No	ExAC TOPMed gnomAD ClinGen
CA10004955 rs183296771	39	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA410103586 rs1198751192	41	E>Q		No	ClinGen TOPMed gnomAD
CA410103576 rs1306537454	42	A>E		No	gnomAD ClinGen
rs928257947 CA319475003	44	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
CA410103565 rs1313591698	44	P>S		No	TOPMed ClinGen
rs201970857 CA10004953	45	G>S		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1379803954 CA410103550	47	G>S		No	ClinGen TOPMed gnomAD
CA10004952 rs760890744	48	D>N		No	ClinGen ExAC TOPMed gnomAD
CA319474994 rs988864463	50	A>V		No	TOPMed gnomAD ClinGen
CA410103525 rs1395599052	51	P>A		No	ClinGen TOPMed
CA410103520 rs1271943297	52	G>S		No	ClinGen gnomAD
rs1441634111 CA410103515	52	G>V		No	gnomAD ClinGen
rs974243754 CA319474990	53	G>W		No	ClinGen TOPMed gnomAD
CA410103487 rs1162782705	57	L>P		No	TOPMed ClinGen
CA410103486 rs1162782705	57	L>R		No	ClinGen TOPMed
rs962459425 CA319474988	58	G>S		No	ClinGen TOPMed gnomAD
rs1352952315 CA410103478	59	P>L		No	gnomAD ClinGen
rs960271117 CA319474986	59	P>S		No	TOPMed ClinGen
CA319474983 rs1018530197	60	G>R		No	TOPMed ClinGen
CA410103434 rs1461953103	63	P>L		No	ClinGen TOPMed gnomAD
rs1303640072 CA410103426	64	P>L		No	TOPMed ClinGen
rs767604762 CA10004950	66	A>S		No	ExAC TOPMed gnomAD ClinGen
rs767604762 CA410103411	66	A>T		No	ClinGen ExAC TOPMed gnomAD
rs759708206 CA10004949	66	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1239997093 CA410103371	68	T>N		No	gnomAD ClinGen
TCGA novel	68	T>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771531793 CA10004947	69	P>L		No	ExAC gnomAD ClinGen
rs771531793 CA410103356	69	P>Q		No	ClinGen ExAC gnomAD
CA10004948 rs774687070	69	P>T		No	ClinGen ExAC gnomAD
rs1223238448 CA410103340	70	G>S		No	ClinGen TOPMed gnomAD
CA10004946 rs763210114 COSM478524	72	G>R	kidney [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1569172318 CA410103273	73	A>G		No	ClinGen Ensembl
CA410103264 rs1569172318	73	A>V		No	Ensembl ClinGen
rs773729255 CA10004945	74	E>G		No	ClinGen ExAC TOPMed gnomAD
CA410103261 rs1314279813	74	E>K		No	ClinGen TOPMed
rs1244268746 CA410103219	76	G>A		No	ClinGen TOPMed gnomAD
rs1244268746 CA410103220	76	G>E		No	TOPMed gnomAD ClinGen
rs1256214924 CA410103223	76	G>R		No	ClinGen TOPMed
CA410103218 rs1244268746	76	G>V		No	ClinGen TOPMed gnomAD
CA10004944 rs768360164	77	G>A		No	ClinGen ExAC gnomAD
CA10004941 rs771687743	78	G>D		No	ClinGen ExAC gnomAD
rs779665411 CA10004942	78	G>S		No	ExAC gnomAD ClinGen
rs1371199235 CA410103164	79	F>S		No	gnomAD ClinGen
CA10004940 rs745425407	80	P>S		No	ExAC gnomAD ClinGen
CA319474960 rs895192551	81	G>R		No	Ensembl ClinGen
CA319474959 rs895192551	81	G>S		No	Ensembl ClinGen
CA410103101 rs757278397	83	A>G		No	ClinGen ExAC gnomAD
rs757278397 CA10004938	83	A>V		No	ClinGen ExAC gnomAD
TCGA novel	84	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10004934 rs756278430	85	P>S		No	ClinGen ExAC TOPMed gnomAD
CA410103056 rs1192460111	86	G>R		No	gnomAD ClinGen
rs1026398125 CA410103034	87	N>K		No	ClinGen TOPMed gnomAD
CA10004930 rs759527124	87	N>S		No	ClinGen ExAC gnomAD
CA410103023 rs1287357648	88	G>E		No	ClinGen gnomAD
CA10004929 rs376384006	88	G>R		No	ESP ExAC TOPMed gnomAD ClinGen
rs997218715 CA410103006	89	L>P		No	TOPMed gnomAD ClinGen
CA319474944 rs997218715	89	L>Q		No	TOPMed gnomAD ClinGen
rs1303433994 CA410102973	91	P>S		No	gnomAD ClinGen
rs770307852 CA10004926	92	R>C		No	ClinGen ExAC gnomAD
CA10004924 rs762320885	92	R>L		No	ClinGen ExAC gnomAD
rs770307852 CA10004925	92	R>S		No	ClinGen ExAC gnomAD
rs199815719 CA10004923	93	K>M		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs199815719 CA319474935	93	K>R		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA10004921 rs745357530	94	R>K		No	ClinGen ExAC gnomAD
CA410102903 rs1480503702	95	P>L		No	ClinGen gnomAD
CA10004920 rs201319163	95	P>S		No	ExAC TOPMed gnomAD ClinGen
CA10004918 rs749268249	96	R>G		No	ClinGen ExAC gnomAD
CA10004917 rs777735881	98	N>S		No	ExAC gnomAD ClinGen
rs755869611 CA410102848	99	K>E		No	ClinGen ExAC TOPMed gnomAD
rs755869611 CA10004916	99	K>Q		No	ExAC TOPMed gnomAD ClinGen
COSM320557 rs752553582 CA10004915	100	E>Q	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1206685567 CA410102809	101	V>L		No	ClinGen gnomAD
CA10004912 rs751531626	102	P>A		No	ClinGen ExAC gnomAD
rs766516346 CA410102792	102	P>L		No	ExAC gnomAD ClinGen
rs766516346 CA10004911	102	P>R		No	ExAC gnomAD ClinGen
CA410102799 rs751531626	102	P>T		No	ExAC gnomAD ClinGen
CA410102789 rs1220626390	103	R>G		No	TOPMed gnomAD ClinGen
TCGA novel	103	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA410102788 rs1220626390	103	R>W		No	ClinGen TOPMed gnomAD
rs765886456 CA410102778	104	A>S		No	ExAC gnomAD ClinGen
CA10004908 rs765886456	104	A>T		No	ClinGen ExAC gnomAD
rs1381489706 CA410102765	105	S>T		No	gnomAD ClinGen
CA410102706 rs1359746727	110	Q>E		No	gnomAD ClinGen
rs762265994 CA10004907	110	Q>H		No	ClinGen ExAC gnomAD
rs1469858914 CA410102688	111	D>N		No	gnomAD ClinGen
CA410102667 rs947453857	112	E>K		No	TOPMed gnomAD ClinGen
CA319474915 rs947453857	112	E>Q		No	TOPMed gnomAD ClinGen
CA319474621 rs949274213	117	E>G		No	Ensembl ClinGen
rs1267601926 CA410102493	118	E>D		No	TOPMed gnomAD ClinGen
CA10004875 rs368177376	121	K>E		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
TCGA novel	121	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs368177376 CA319474619	121	K>Q		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1363235447 CA410102392	126	S>N		No	ClinGen gnomAD
rs780320825 CA10004874	130	K>N		No	ClinGen ExAC gnomAD
CA410102335 rs1601614654	130	K>T		No	ClinGen Ensembl
CA410102299 rs1254795953	134	L>F		No	ClinGen TOPMed
rs1269917758 CA410102296	135	L>F		No	ClinGen gnomAD
rs758753293 CA10004873	136	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs1351349515 CA410102210	146	S>L		No	gnomAD ClinGen
CA10004870 rs779138819	149	K>N		No	ClinGen ExAC TOPMed gnomAD
CA319474610 rs754479082	150	T>A		No	Ensembl ClinGen
rs757789167 CA10004869	150	T>I		No	ExAC gnomAD ClinGen
TCGA novel	151	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1346974111 CA410102179	151	E>G		No	gnomAD ClinGen
CA10004868 rs754347919	153	N>K		No	ExAC gnomAD ClinGen
CA410102148 rs1364042694 COSM478523	154	S>L	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	gnomAD ClinGen cosmic curated NCI-TCGA
COSM1751605 CA10004866 rs149741253	155	S>L	urinary_tract [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA319474607 rs113972283	155	S>P		No	ClinGen Ensembl
rs1254424353 CA410101506	158	S>G		No	ClinGen TOPMed
rs140038172 CA410100811	158	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA10004849 rs140038172	158	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs140038172 CA319472728	158	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs377147730 CA319472727	161	P>A		No	ClinGen ESP TOPMed gnomAD
rs1202512779 CA410100770	161	P>L		No	ClinGen gnomAD
rs1202512779 CA410100772	161	P>R		No	ClinGen gnomAD
rs377147730 CA410100784	161	P>T		No	ClinGen ESP TOPMed gnomAD
rs781563968 RCV000785672 CA10004847	162	L>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA10004848 rs756590501	162	L>V		No	ClinGen ExAC gnomAD
rs781563968 CA10004846	162	L>W		No	ClinGen ExAC TOPMed gnomAD
CA410100748 rs1339074972	163	D>G		No	ClinGen gnomAD
rs758001001 CA10004845	163	D>N		No	ClinGen ExAC gnomAD
rs764913979 CA10004843	164	K>T		No	ClinGen ExAC gnomAD
CA10004842 rs563760158	166	G>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1450594358 CA410100679	168	V>I		No	ClinGen gnomAD
CA410100657 CA410100658 rs1171465774	169	K>N		No	ClinGen TOPMed gnomAD
CA410100662 rs1356489763	169	K>R		No	ClinGen TOPMed gnomAD
rs764034977 CA10004840	170	D>E		No	ClinGen ExAC gnomAD
TCGA novel	173	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA410100602 rs1165975434	174	E>K		No	ClinGen TOPMed gnomAD
CA319472673 rs922542037	176	G>E		No	ClinGen Ensembl
rs978017519 CA319472669	177	V>G		No	ClinGen Ensembl
CA410100554 rs1392518078	178	I>V		No	ClinGen TOPMed
CA10004839 rs760536550	180	S>G		No	ClinGen ExAC gnomAD
rs1459633416 CA410100522	181	E>K		No	ClinGen gnomAD
CA10004838 rs775316863	182	H>D		No	ClinGen ExAC gnomAD
rs1386922856 CA410100499	183	G>A		No	ClinGen TOPMed
rs771969668 CA10004837	183	G>S		No	ClinGen ExAC gnomAD
CA410100477 rs1456525054	185	D>G		No	ClinGen gnomAD
rs759442181 CA10004836	188	D>G		No	ClinGen ExAC TOPMed gnomAD
CA410100443 rs1436894953	188	D>N		No	ClinGen gnomAD
rs113400440 CA319472634	189	M>T		No	ClinGen Ensembl
CA10004834 rs771336133	192	E>K		No	ClinGen ExAC gnomAD
rs1315048214 CA410100372	193	K>E		No	ClinGen gnomAD
CA410100346 rs1375553799	195	E>K		No	ClinGen gnomAD
CA410100302 rs1472913564	199	K>Q		No	ClinGen TOPMed gnomAD
CA410100296 rs144304571	199	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs144304571 CA10004832	199	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA410100286 rs770293170	200	T>N		No	ClinGen ExAC gnomAD
rs770293170 CA10004831	200	T>S		No	ClinGen ExAC gnomAD
rs1569167388 CA410100281	201	G>D		No	ClinGen Ensembl
TCGA novel	202	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	205	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs568169291 CA319472599	205	S>L		No	ClinGen gnomAD
CA10004829 rs781703166	206	N>D		No	ClinGen ExAC gnomAD
CA319472591 rs200232025	206	N>I		No	ClinGen Ensembl
rs1434507258 CA410100175	211	L>S		No	ClinGen gnomAD
rs1266989146 CA410100167	212	N>S		No	ClinGen TOPMed
CA410100155 rs1421988970	214	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1421988970 CA410100156	214	L>V		No	ClinGen TOPMed gnomAD
rs750512469 CA410100150	215	R>C		No	ClinGen ExAC gnomAD
rs1177295113 CA410100149	215	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA10004826 rs750512469	215	R>S		No	ClinGen ExAC gnomAD
rs1189866446 CA410099700	218	E>A		No	ClinGen gnomAD
TCGA novel	221	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA319471027 rs576995361	223	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1215135404 CA410099565	229	R>K		No	ClinGen gnomAD
rs1569166273 CA410099524	232	R>H		No	ClinGen Ensembl
rs1459383648 CA410099479	236	R>G		No	ClinGen TOPMed
TCGA novel	237	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA410099427 rs1364087168	240	D>G		No	ClinGen TOPMed
CA10004804 rs777520327	243	P>T		No	ClinGen ExAC gnomAD
CA10004802 rs752313065	244	H>Q		No	ClinGen ExAC gnomAD
rs1433217946 CA410099382	244	H>R		No	ClinGen gnomAD
CA10004803 rs755574140	244	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA10004800 rs527335552	252	R>C		No	ClinGen 1000Genomes ExAC gnomAD
CA10004799 rs754967153 COSM1208010	252	R>H	kidney large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA319470914 rs923653360	256	E>K		No	ClinGen TOPMed gnomAD
CA410099196 rs1569166213	258	E>G		No	ClinGen Ensembl
rs1006256831 CA319470908	260	D>V		No	ClinGen Ensembl
rs766106749 CA10004797	263	D>E		No	ClinGen ExAC gnomAD
CA10004796 rs762851703	264	D>Y		No	ClinGen ExAC gnomAD
CA10004795 rs773278116	265	E>D		No	ClinGen ExAC gnomAD
TCGA novel	266	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10004792 rs776709672	268	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA410098960 rs1204441349	269	E>D		No	ClinGen gnomAD
rs769085747 CA10004791	270	K>E		No	ClinGen ExAC gnomAD
CA10004790 rs545150914 COSM1030253	271	R>C	endometrium Variant assessed as Somatic; 9.242e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA10004789 rs775784630	271	R>H		No	ClinGen ExAC gnomAD
CA410098904 rs761266718	272	R>L		No	ClinGen gnomAD
rs761266718 CA319470842	272	R>Q		No	ClinGen gnomAD
CA10004788 rs373578550	278	K>E		No	ClinGen ESP ExAC gnomAD
CA410098833 rs1381539879	278	K>T		No	ClinGen gnomAD
TCGA novel	281	S>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA319470830 rs887753019	287	A>V		No	ClinGen gnomAD
CA10004786 rs777276800	290	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1404899090 CA410098580	290	I>T		No	ClinGen gnomAD
CA410097982 rs1250136420	293	E>K		No	ClinGen gnomAD
CA410097971 rs1183568803	294	G>R		No	ClinGen TOPMed
CA319470063 rs76017744	295	S>G		No	ClinGen Ensembl
CA10004767 rs140741019	296	D>G		No	ClinGen 1000Genomes ExAC gnomAD
rs772692096 CA10004768	296	D>H		No	ClinGen ExAC gnomAD
rs772692096 CA410097949	296	D>N		No	ClinGen ExAC gnomAD
rs769287168 CA10004765	297	D>G		No	ClinGen ExAC TOPMed gnomAD
CA10004766 rs79555426	297	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747821387 CA10004764	298	D>E		No	ClinGen ExAC gnomAD
CA410097925 rs1355598051	298	D>N		No	ClinGen gnomAD
CA410097890 rs1179383747	301	V>I		No	ClinGen TOPMed
CA10004762 rs768247590	302	T>S		No	ClinGen ExAC gnomAD
rs746587405 CA10004761	305	Q>H		No	ClinGen ExAC gnomAD
rs1407618376 CA410097736	309	L>F		No	ClinGen TOPMed gnomAD
rs1347711159 CA410097731	309	L>P		No	ClinGen gnomAD
rs1407618376 CA410097737	309	L>V		No	ClinGen TOPMed gnomAD
CA410097684 rs1304154481	311	R>*		No	ClinGen gnomAD
CA10004760 rs561696906	311	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	314	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10004759 rs758374444	314	Q>K		No	ClinGen ExAC gnomAD
TCGA novel	320	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747329100 CA319470003	320	G>V		No	ClinGen Ensembl
CA10004758 rs750122564	322	N>S		No	ClinGen ExAC gnomAD
rs763448632 CA10004745	326	V>I		No	ClinGen ExAC TOPMed gnomAD
CA10004744 rs776421223	329	S>I		No	ClinGen ExAC gnomAD
rs1047294999 CA319469116	331	P>L		No	ClinGen Ensembl
CA10004741 rs189198715	332	A>T		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	333	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1601603760 CA410096793	333	E>Q		No	ClinGen Ensembl
CA10004737 rs141504564	336	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA10004738 rs778767382	336	M>V		No	ClinGen ExAC gnomAD
CA319469067 rs895642841	338	Y>S		No	ClinGen TOPMed
CA10004735 rs777912377	339	Q>K		No	ClinGen ExAC gnomAD
rs976048457 CA319469049	343	Q>H		No	ClinGen TOPMed
CA319469040 rs112765275	344	T>A		No	ClinGen Ensembl
rs756333541 CA10004733	344	T>I		No	ClinGen ExAC gnomAD
CA10004732 rs752679454	346	P>L		No	ClinGen ExAC gnomAD
CA410096394 rs1228749998 COSM1208007	348	G>S	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1569164522 CA410096362	349	S>L		No	ClinGen Ensembl
rs755058646 CA10004730	351	Y>C		No	ClinGen ExAC gnomAD
CA410096290 rs1454705189	352	G>D		No	ClinGen gnomAD
rs540110279 CA10004729	353	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA319468993 rs866344293	354	P>S		No	ClinGen TOPMed
rs866344293 CA410096267	354	P>T		No	ClinGen TOPMed
rs1397784400 CA410096252	355	Y>C		No	ClinGen TOPMed gnomAD
rs1397619037 CA410096208	358	T>A		No	ClinGen TOPMed
CA10004725 rs763777209	358	T>K		No	ClinGen ExAC TOPMed gnomAD
CA10004726 rs763777209	358	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1475681712 CA410096195	359	A>D		No	ClinGen gnomAD
rs369771025 CA319468957	359	A>T		No	ClinGen ESP
rs1244081186 CA410096181	360	Y>C		No	ClinGen TOPMed
TCGA novel	362	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	363	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA410096134 rs1186106111	364	D>H		No	ClinGen gnomAD
CA410096132 rs1186106111	364	D>N		No	ClinGen gnomAD
CA319468928 rs112055863	365	A>V		No	ClinGen gnomAD
CA10004721 rs771589234	366	K>R		No	ClinGen ExAC gnomAD
rs200247763 CA10004720	368	Q>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA410096057 rs987092705	370	T>A		No	ClinGen gnomAD
TCGA novel	370	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA319468914 rs987092705	370	T>P		No	ClinGen gnomAD
TCGA novel	371	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1427347928 CA410096018	372	N>S		No	ClinGen gnomAD
rs774269730 CA10004719	380	S>R		No	ClinGen ExAC gnomAD
CA410095912 rs1296134178	380	S>T		No	ClinGen gnomAD
rs777574537 CA10004716	386	V>G		No	ClinGen ExAC gnomAD
CA10004717 rs749014622	386	V>I		No	ClinGen ExAC gnomAD
rs1472660950 CA410095790	388	I>T		No	ClinGen gnomAD
rs202233285 CA10004715	389	D>H		No	ClinGen ExAC TOPMed gnomAD
rs202233285 CA319468898	389	D>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	392	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780939098 CA319468504	400	D>E		No	ClinGen TOPMed gnomAD
CA410095154 rs1309234684	400	D>N		No	ClinGen TOPMed
rs1344530215 CA410095136	401	S>F		No	ClinGen TOPMed gnomAD
rs369087346 CA10004699	403	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1246286363 CA410095106	404	E>*		No	ClinGen TOPMed
rs1290509795 CA410095063	407	K>R		No	ClinGen TOPMed
rs1035593609 CA319468498	408	T>A		No	ClinGen Ensembl
CA10004697 rs781461034	410	R>L		No	ClinGen ExAC gnomAD
CA10004696 rs781461034	410	R>Q		No	ClinGen ExAC gnomAD
CA410095017 rs1275597019	411	Q>R		No	ClinGen gnomAD
rs866215046 CA319468449	413	H>R		No	ClinGen TOPMed
CA410094955 rs1219456858	415	K>R		No	ClinGen TOPMed gnomAD
rs1179526537 CA410094940	416	H>R		No	ClinGen TOPMed
rs1318736622 CA410094895	420	R>*		No	ClinGen TOPMed gnomAD
rs1318736622 CA410094897	420	R>G		No	ClinGen TOPMed gnomAD
CA10004693 rs568265618	420	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA410094890 rs1183232044	421	V>M		No	ClinGen TOPMed
TCGA novel	422	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	424	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10004691 rs191429217	424	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA10004692 rs780315998	424	T>S		No	ClinGen ExAC TOPMed gnomAD
CA410094849 rs564636681	426	A>S		No	ClinGen 1000Genomes ExAC gnomAD
rs564636681 CA10004690	426	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA410094837 rs1368214099	427	I>T		No	ClinGen gnomAD
rs779605413 CA10004689	429	R>I		No	ClinGen ExAC
TCGA novel	431	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1431762236 CA410094786	432	G>A		No	ClinGen TOPMed
rs757638679 CA10004688	432	G>R		No	ClinGen ExAC gnomAD
rs1346408206 CA410094741	435	G>A		No	ClinGen gnomAD
rs1159299615 CA410094734	436	G>S		No	ClinGen gnomAD
TCGA novel	436	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1169274372 CA410094718	437	I>T		No	ClinGen TOPMed
rs759141904 CA10004686	438	G>A		No	ClinGen ExAC TOPMed gnomAD
CA10004685 rs759141904	438	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1179013014 CA410094701	439	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs765853453 CA10004683	440	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA10004684 rs751020829	440	R>W		No	ClinGen ExAC gnomAD
rs1601602788 CA410094662	442	K>T		No	ClinGen Ensembl
CA10004682 rs376931912	448	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1242731936 CA410094516	449	G>W		No	ClinGen gnomAD
rs773125411 CA10004679	459	S>T		No	ClinGen ExAC gnomAD
rs1380092853 CA410094262	460	E>G		No	ClinGen TOPMed
rs1310056636 CA410093282	468	L>F		No	ClinGen gnomAD
rs548429395 CA10004651	469	E>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1428347792 CA410093263	470	S>T		No	ClinGen gnomAD
TCGA novel	472	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1368062808 CA410093242	472	I>V		No	ClinGen gnomAD
CA410093233 rs1163898263	473	H>Y		No	ClinGen gnomAD
TCGA novel	476	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1161481118 CA410093159	479	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs756462497 CA10004647	479	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA410093141 rs1601599132	481	S>P		No	ClinGen Ensembl
CA10004646 rs748566946	481	S>Y		No	ClinGen ExAC gnomAD
CA10004645 rs779623308	482	R>C		No	ClinGen ExAC gnomAD
rs1482017934 CA410093082	487	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA410093081 rs1269460693	487	R>Q		No	ClinGen gnomAD
CA10004644 rs373875343	488	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1354973888 CA410093073	488	Q>R		No	ClinGen gnomAD
TCGA novel	490	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	494	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10004643 rs749911294	495	S>T		No	ClinGen ExAC gnomAD
COSM1413831 rs1229809110 CA410093006	496	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs145722611 CA410092993	497	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1288092958 CA410093005	497	E>K		No	ClinGen gnomAD
rs77704467 CA10004640	499	S>*		No	ClinGen ExAC gnomAD
CA410092976 rs1347932795	499	S>T		No	ClinGen gnomAD
CA410092965 rs1386719134	500	S>G		No	ClinGen gnomAD
TCGA novel	500	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	500	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	500	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs369726021 CA10004616	503	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA410092642 rs1569159977	507	M>L		No	ClinGen Ensembl
rs375900168 CA10004613	507	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA10004612 rs762882694	511	L>H		No	ClinGen ExAC gnomAD
CA10004611 rs773345668	514	F>L		No	ClinGen ExAC gnomAD
rs562213914 CA10004610	516	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs762332172 CA10004609	516	R>H		No	ClinGen ExAC gnomAD
rs778420280 CA10004607	517	D>H		No	ClinGen ExAC gnomAD
rs778420280 CA10004605 COSM1413830	517	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA10004606 rs778420280	517	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs770634324 CA10004604	518	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1334550489 CA410092469	518	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA319462991 rs201020560	520	L>V		No	ClinGen Ensembl
rs1569159924 CA410092394	523	E>K		No	ClinGen Ensembl
CA410092375 rs1459980350	524	H>R		No	ClinGen TOPMed
rs1190401292 CA410092362	525	A>T		No	ClinGen TOPMed
rs763267192 CA319462986	526	K>E		No	ClinGen Ensembl
rs1569159894 CA410092340	526	K>T		No	ClinGen Ensembl
CA10004601 rs755731671	527	R>C		No	ClinGen ExAC gnomAD
rs752646572 CA10004600	527	R>H		No	ClinGen ExAC gnomAD
CA410092313 rs1186165200	528	R>C		No	ClinGen gnomAD
rs1473560499 CA410092311	528	R>H		No	ClinGen gnomAD
CA410092319 rs1186165200	528	R>S		No	ClinGen gnomAD
TCGA novel	532	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	535	R>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA410092108 VAR_079417 rs1569159832 RCV000757992	538	R>C	found in a family with global developmental delay and myopathic hypotonia; unknown pathological significance [UniProt]	No	ClinGen ClinVar Ensembl dbSNP UniProt
rs1413891127 CA410092101	538	R>H		No	ClinGen gnomAD
rs1162230990 CA410092089	539	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	544	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM673643 rs1210000468 CA410091965	547	G>A	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed
CA410091972 rs1183420676	547	G>S		No	ClinGen gnomAD
rs1210000468 CA410091964	547	G>V		No	ClinGen TOPMed
CA410091960 rs1267339646	548	K>E		No	ClinGen gnomAD
CA10004582 rs769420502	548	K>R		No	ClinGen ExAC TOPMed gnomAD
rs747714977 CA10004581	549	M>V		No	ClinGen ExAC gnomAD
CA410091933 rs1206722997	550	A>P		No	ClinGen TOPMed gnomAD
rs781217859 CA10004580	552	H>R		No	ClinGen ExAC gnomAD
rs754947318 CA10004579	553	L>P		No	ClinGen ExAC gnomAD
rs575855181 CA10004577	560	D>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1248226518 CA410091735	564	S>A		No	ClinGen TOPMed
CA10004576 rs137967186	567	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA10004575 rs150353715	571	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753240237 CA10004548	576	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA10004547 rs767964333	578	S>A		No	ClinGen ExAC gnomAD
rs1449151585 CA410091449	579	K>E		No	ClinGen TOPMed gnomAD
rs112853061 CA10004544	582	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1488081083 CA410091412	583	K>E		No	ClinGen TOPMed
CA410091403 rs1601592999	584	V>F		No	ClinGen Ensembl
rs368168645 CA10004543	585	F>L		No	ClinGen ESP ExAC gnomAD
TCGA novel	585	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	586	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1005061193 CA319461130	590	E>Q		No	ClinGen TOPMed
rs374635092 CA10004542	593	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	594	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10004541 rs768182808	595	I>V		No	ClinGen ExAC TOPMed gnomAD
CA10004540 COSM3799867 rs746568370	598	I>V	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs370916423 CA10004539	601	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs772015075 CA10004538	601	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs745599782 CA10004537	603	E>A		No	ClinGen ExAC gnomAD
TCGA novel	605	W>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10004536 rs778713949	606	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs374674342 CA319461115	607	S>L		No	ClinGen ESP TOPMed
rs371129196 CA410091233	608	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	608	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs916948878 CA319461105	611	T>A		No	ClinGen TOPMed
rs756201793 CA10004532	612	S>C		No	ClinGen ExAC gnomAD
rs1208593687 CA410091204	613	Y>D		No	ClinGen gnomAD
CA10004531 rs143101864	614	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10004530 rs781675104	615	D>N		No	ClinGen ExAC gnomAD
CA10004528 rs751922547	618	I>T		No	ClinGen ExAC gnomAD
CA10004529 rs755573314	618	I>V		No	ClinGen ExAC TOPMed gnomAD
rs766826727 CA10004527	621	C>R		No	ClinGen ExAC gnomAD
rs763452858 CA10004526	621	C>Y		No	ClinGen ExAC gnomAD
rs1412198294 CA410091142	622	L>F		No	ClinGen gnomAD
rs753526335 CA10004525	624	K>R		No	ClinGen ExAC gnomAD
CA10004524 rs763712461	626	F>L		No	ClinGen ExAC gnomAD
CA410091113 rs1225314375	627	N>H		No	ClinGen TOPMed
rs771961954 CA10004521	630	I>V		No	ClinGen ExAC gnomAD
CA10004520 COSM185819 rs759494657	631	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1185587168 CA410091081	632	L>F		No	ClinGen gnomAD
rs770705034 CA410091071 CA10004518	633	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA410091057 rs1479338149	636	T>A		No	ClinGen TOPMed gnomAD
rs1479338149 CA410091056	636	T>S		No	ClinGen TOPMed gnomAD
rs1266720989 CA410091035	639	P>S		No	ClinGen gnomAD
CA10004504 rs368791115	644	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA319458582 rs141072916	645	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA gnomAD
rs759110492 CA10004503	645	R>H		No	ClinGen ExAC TOPMed gnomAD
CA319458537 rs111292963	649	N>D		No	ClinGen Ensembl
rs1333379499 CA410090212	649	N>S		No	ClinGen gnomAD
TCGA novel	651	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	655	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10004499 rs146548408	657	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA319458514 rs77528811	662	E>*		No	ClinGen Ensembl
rs772911403 CA410089970	664	R>*		No	ClinGen ExAC gnomAD
CA10004498 rs772911403	664	R>G		No	ClinGen ExAC gnomAD
CA10004497 rs374952442	664	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA410089892 rs1404945208	670	D>E		No	ClinGen Ensembl
rs60744088 CA319458469	672	D>Y		No	ClinGen Ensembl
rs779164556 CA410089829	677	P>A		No	ClinGen gnomAD
rs779164556 CA319458450	677	P>S		No	ClinGen gnomAD
TCGA novel	679	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10004494 rs768854048	679	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	681	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1379368335 CA410089776	682	K>E		No	ClinGen gnomAD
rs1199498564 CA410089771	682	K>R		No	ClinGen gnomAD
rs1453207548 CA410089760	683	V>M		No	ClinGen gnomAD
CA10004493 rs747145424	684	I>V		No	ClinGen ExAC gnomAD
rs1451066894 CA410089726	686	P>R		No	ClinGen gnomAD
TCGA novel	686	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10004492 rs376586272	689	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA319457743 rs766756039	691	I>T		No	ClinGen Ensembl
CA410089379 rs1312532482	695	M>I		No	ClinGen TOPMed gnomAD
CA10004475 rs747018810	695	M>T		No	ClinGen ExAC gnomAD
CA410089310 rs1601589306	701	T>A		No	ClinGen Ensembl
rs775747068 CA10004474	702	T>R		No	ClinGen ExAC gnomAD
CA410089185 rs1569156817	708	V>L		No	ClinGen Ensembl
CA319457708 rs999025868	709	G>R		No	ClinGen TOPMed gnomAD
CA10004472 rs746341501	710	I>V		No	ClinGen ExAC gnomAD
TCGA novel	713	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10004470 rs757546224	716	N>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	718	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs149793516 CA10004468	720	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10004467 rs754652602	721	V>I		No	ClinGen ExAC gnomAD
rs1484968668 CA410088885	724	A>G		No	ClinGen gnomAD
rs1013192087 CA319457659	725	E>G		No	ClinGen TOPMed gnomAD
rs1601589196 CA410088878	725	E>K		No	ClinGen Ensembl
rs1437266495 CA410088854	726	N>S		No	ClinGen gnomAD
rs749610098 CA10004442	734	K>Q		No	ClinGen ExAC
CA10004441 rs778129533	735	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA410088654 rs1231230628	737	L>I		No	ClinGen gnomAD
CA410088650 rs1223946182	737	L>S		No	ClinGen gnomAD
CA10004440 rs562226036	738	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA410088525 rs746631337	747	D>A		No	ClinGen ExAC TOPMed gnomAD
CA10004439 rs746631337	747	D>G		No	ClinGen ExAC TOPMed gnomAD
CA319456518 rs759847090	748	V>A		No	ClinGen Ensembl
CA410088518 rs1212067670	748	V>L		No	ClinGen gnomAD
CA10004438 rs779823211	755	K>Q		No	ClinGen ExAC gnomAD
rs1191936032 CA410088375	761	K>E		No	ClinGen gnomAD
TCGA novel	762	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA410088337 rs1480760115	765	P>R		No	ClinGen TOPMed gnomAD
CA410088315 rs1265156354	767	L>S		No	ClinGen gnomAD
rs1320858083 CA410088266	771	R>*		No	ClinGen TOPMed
rs1466452056 CA410088234	773	F>L		No	ClinGen gnomAD
CA410088192 rs1432333308	777	V>A		No	ClinGen TOPMed
CA10004366 rs754786993	782	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1165594404 CA410085273	784	L>P		No	ClinGen TOPMed
CA10004364 rs780183403	787	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs746793281 CA10004365	787	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA410084980 rs1173784418	794	T>I		No	ClinGen gnomAD
rs1194900015 CA410084942	797	E>Q		No	ClinGen TOPMed gnomAD
CA10004360 rs757322910	800	I>V		No	ClinGen ExAC TOPMed gnomAD
CA319446746 rs1010487862	802	G>S		No	ClinGen TOPMed
rs777846377 CA10004358	809	L>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs761046515 CA10004357	810	M>L		No	ClinGen ExAC TOPMed gnomAD
rs1356293524 CA410084599	811	A>V		No	ClinGen TOPMed
rs776025056 CA10004356	812	F>L		No	ClinGen ExAC gnomAD
rs766075624 CA10004355	816	E>Q		No	ClinGen ExAC gnomAD
CA410084287 rs1317438507	823	K>R		No	ClinGen gnomAD
CA410084251 rs1569153099	825	A>S		No	ClinGen Ensembl
rs1377274331 CA410084204	827	N>K		No	ClinGen gnomAD
CA10004329 rs776036603	829	I>V		No	ClinGen ExAC TOPMed gnomAD
CA10004327 rs370348660	830	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	834	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA410083969 rs775040197 CA319445695	838	M>I		No	ClinGen Ensembl
rs1437319678 CA410083972	838	M>T		No	ClinGen gnomAD
rs376912985 CA10004325	842	G>A		No	ClinGen ESP ExAC gnomAD
rs1336630217 CA410083885	843	E>K		No	ClinGen gnomAD
rs1273629935 CA410083783	846	I>T		No	ClinGen gnomAD
CA410083730 rs779053019	848	Q>P		No	ClinGen ExAC gnomAD
rs779053019 CA10004323	848	Q>R		No	ClinGen ExAC gnomAD
rs1280779189 CA410083679	849	L>F		No	ClinGen gnomAD
CA410083600 rs1442212286	852	F>L		No	ClinGen gnomAD
rs749337356 CA10004321	853	C>S		No	ClinGen ExAC TOPMed gnomAD
rs199507974 CA10004320	854	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs138511262 CA10004319	854	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA10004318 rs770259842 COSM1161403	857	V>I	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA10004316 rs755335296	858	H>R		No	ClinGen ExAC gnomAD
CA410083357 rs1469650006	860	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1195704001 CA410083334	861	D>G		No	ClinGen gnomAD
TCGA novel	861	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1175776393 CA410083315	862	T>A		No	ClinGen TOPMed
rs551236608 CA10004312	865	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs763482590 CA10004311	866	N>S		No	ClinGen ExAC gnomAD
CA319445548 rs867702535	869	G>R		No	ClinGen gnomAD
rs867702535 CA410083135	869	G>W		No	ClinGen gnomAD
rs1601580189 CA410083110	870	C>G		No	ClinGen Ensembl
CA410083080 rs1306504535	872	D>N		No	ClinGen gnomAD
rs1459870935 CA410083051	872	D>V		No	ClinGen TOPMed
CA410083046 rs1442618740	873	V>M		No	ClinGen gnomAD
rs1601580161 CA410083022	874	E>K		No	ClinGen Ensembl
rs199655078 CA319445519	878	A>V		No	ClinGen TOPMed
TCGA novel	880	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA410082513 rs1289871935	884	Q>E		No	ClinGen gnomAD
CA319443831 rs1039801475	886	V>I		No	ClinGen TOPMed
rs1302257917 CA410082415	888	L>P		No	ClinGen TOPMed
rs774382781 CA10004287	891	S>T		No	ClinGen ExAC gnomAD
CA410082328 rs1311771450	892	V>L		No	ClinGen TOPMed
CA319443798 rs972702748	893	R>Q		No	ClinGen gnomAD
rs766080046 CA10004286	899	M>K		No	ClinGen ExAC gnomAD
rs1394578544 CA410082138	899	M>V		No	ClinGen TOPMed gnomAD
CA410082087 rs1430559361	901	V>I		No	ClinGen gnomAD
rs1421359644 CA410081048	902	A>P		No	ClinGen gnomAD
CA10004285 rs762861716	903	S>N		No	ClinGen ExAC gnomAD
rs935990060 CA319443745	904	D>N		No	ClinGen TOPMed
rs770144337 CA10004283	906	N>S		No	ClinGen ExAC
rs547478950 CA319443725	908	K>Q		No	ClinGen Ensembl
CA10004280 rs776872837	910	F>I		No	ClinGen ExAC gnomAD
TCGA novel	912	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs143512881 CA10004276	915	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	915	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA410080800 COSM177282 rs143512881	915	E>K	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA410080761 rs1308954273	916	G>E		No	ClinGen TOPMed gnomAD
rs1296741586 CA637656576	918	K>del		No	ClinGen gnomAD

No associated diseases with Q9Y5B6

4 regional properties for Q9Y5B6

Type	Name	Position	InterPro Accession
domain	Aminoacyl-tRNA synthetase, class II (G/ P/ S/T)	240 - 415	IPR002314
domain	Aminoacyl-tRNA synthetase, class II	177 - 425	IPR006195
domain	Serine-tRNA synthetase, type1, N-terminal	1 - 110	IPR015866
domain	Serine-tRNA ligase catalytic core domain	123 - 432	IPR033729

Functions

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

2 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

1 GO annotations of molecular function

Name	Definition
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).

7 GO annotations of biological process

Name	Definition
mRNA splicing, via spliceosome	The joining together of exons from one or more primary transcripts of messenger RNA (mRNA) and the excision of intron sequences, via a spliceosomal mechanism, so that mRNA consisting only of the joined exons is produced.
muscle organ development	The process whose specific outcome is the progression of the muscle over time, from its formation to the mature structure. The muscle is an organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work.
positive regulation of histone methylation	Any process that activates or increases the frequency, rate or extent of the covalent addition of methyl groups to histones.
positive regulation of myoblast proliferation	Any process that activates or increases the frequency, rate or extent of myoblast proliferation.
positive regulation of transcription by RNA polymerase II	Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
regulation of skeletal muscle satellite cell proliferation	Any process that modulates the frequency, rate or extent of skeletal muscle satellite cell proliferation.
transcription by RNA polymerase II	The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs).

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P16383	GCFC2	Intron Large complex component GCFC2	Homo sapiens (Human)	PR
Q8BKT3	Gcfc2	Intron Large complex component GCFC2	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MFRKARRVNV	RKRNDSEEEE	RERDEEQEPP	PLLPPPGTGE	EAGPGGGDRA	PGGESLLGPG
70	80	90	100	110	120
PSPPSALTPG	LGAEAGGGFP	GGAEPGNGLK	PRKRPRENKE	VPRASLLSFQ	DEEEENEEVF
130	140	150	160	170	180
KVKKSSYSKK	IVKLLKKEYK	EDLEKSKIKT	ELNSSAESEQ	PLDKTGHVKD	TNQEDGVIIS
190	200	210	220	230	240
EHGEDEMDME	SEKEEEKPKT	GGAFSNALSS	LNVLRPGEIP	DAAFIHAARK	KRQMARELGD
250	260	270	280	290	300
FTPHDNEPGK	GRLVREDEND	ASDDEDDDEK	RRIVFSVKEK	SQRQKIAEEI	GIEGSDDDAL
310	320	330	340	350	360
VTGEQDEELS	RWEQEQIRKG	INIPQVQASQ	PAEVNMYYQN	TYQTMPYGSS	YGIPYSYTAY
370	380	390	400	410	420
GSSDAKSQKT	DNTVPFKTPS	NEMTPVTIDL	VKKQLKDRLD	SMKELHKTNR	QQHEKHLQSR
430	440	450	460	470	480
VDSTRAIERL	EGSSGGIGER	YKFLQEMRGY	VQDLLECFSE	KVPLINELES	AIHQLYKQRA
490	500	510	520	530	540
SRLVQRRQDD	IKDESSEFSS	HSNKALMAPN	LDSFGRDRAL	YQEHAKRRIA	EREARRTRRR
550	560	570	580	590	600
QAREQTGKMA	DHLEGLSSDD	EETSTDITNF	NLEKDRISKE	SGKVFEDVLE	SFYSIDCIKS
610	620	630	640	650	660
QFEAWRSKYY	TSYKDAYIGL	CLPKLFNPLI	RLQLLTWTPL	EAKCRDFENM	LWFESLLFYG
670	680	690	700	710	720
CEEREQEKDD	VDVALLPTIV	EKVILPKLTV	IAENMWDPFS	TTQTSRMVGI	TLKLINGYPS
730	740	750	760	770	780
VVNAENKNTQ	VYLKALLLRM	RRTLDDDVFM	PLYPKNVLEN	KNSGPYLFFQ	RQFWSSVKLL
790	800	810	820	830	840
GNFLQWYGIF	SNKTLQELSI	DGLLNRYILM	AFQNSEYGDD	SIKKAQNVIN	CFPKQWFMNL
850	860	870	880	890	900
KGERTISQLE	NFCRYLVHLA	DTIYRNSIGC	SDVEKRNARE	NIKQIVKLLA	SVRALDHAMS
910
VASDHNVKEF	KSLIEGK