AiPD: Autoinhibited Protein Database

O94993

Gene name	SOX30
Protein name	Transcription factor SOX-30
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:11063
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

276-358 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

276-358 (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

2 structures for O94993

Entry ID	Method	Resolution	Chain	Position	Source
7JJK	X-ray	140 A	A	335-423	PDB
AF-O94993-F1	Predicted				AlphaFoldDB

682 variants for O94993

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001003516 CA361994535 rs377581367	517	S>C	Male infertility [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1018689169 CA130206633	3	R>K		No	ClinGen TOPMed gnomAD
CA361998936 rs1018689169	3	R>T		No	ClinGen TOPMed gnomAD
CA130206630 rs1006894753	4	A>G		No	ClinGen TOPMed
CA361998927 rs1285443944	5	R>G		No	ClinGen gnomAD
CA361998922 rs1581402892	5	R>S		No	ClinGen Ensembl
CA361998912 rs1401777020	7	E>*		No	ClinGen TOPMed gnomAD
CA361998914 rs1401777020	7	E>K		No	ClinGen TOPMed gnomAD
rs1168651175 CA361998903	8	P>L		No	ClinGen gnomAD
rs766580797 CA3536162	9	P>L		No	ClinGen ExAC
rs1353080469 CA361998898	9	P>S		No	ClinGen gnomAD
rs1261570821 CA361998893	10	P>S		No	ClinGen TOPMed gnomAD
TCGA novel	11	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1232977408 CA361998881	12	P>S		No	ClinGen gnomAD
rs539566843 CA361998872	13	R>H		No	ClinGen 1000Genomes TOPMed gnomAD
rs539566843 CA361998871	13	R>L		No	ClinGen 1000Genomes TOPMed gnomAD
rs539566843 CA130206623	13	R>P		No	ClinGen 1000Genomes TOPMed gnomAD
rs1303977619 CA361998865	14	P>L		No	ClinGen TOPMed gnomAD
CA361998849 rs1295788671	17	P>S		No	ClinGen gnomAD
CA361998851 rs1295788671	17	P>T		No	ClinGen gnomAD
rs1051202186 CA130206618	18	A>T		No	ClinGen TOPMed
CA361998839 rs1475483234	19	P>A		No	ClinGen TOPMed gnomAD
CA361998838 rs1475483234	19	P>S		No	ClinGen TOPMed gnomAD
rs750443535 CA3536160	20	P>L		No	ClinGen ExAC gnomAD
rs1385220964 CA361998834	20	P>S		No	ClinGen gnomAD
rs1581402820 CA361998824	21	P>L		No	ClinGen Ensembl
rs946182606 CA130206607	23	P>L		No	ClinGen TOPMed gnomAD
rs765312303 CA3536159	24	V>I		No	ClinGen ExAC TOPMed gnomAD
CA130206593 rs765312303	24	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1477469704 CA361998799	26	G>C		No	ClinGen gnomAD
CA361998794 rs1260998320	27	T>A		No	ClinGen TOPMed gnomAD
rs570909590 CA130206589	27	T>N		No	ClinGen 1000Genomes
rs1172070689 CA361998767 COSM396122	31	A>T	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
CA3536158 rs760559235	31	A>V		No	ClinGen ExAC gnomAD
CA361998762 rs1448878988	32	A>T		No	ClinGen gnomAD
CA361998750 rs1427518700	34	M>V		No	ClinGen TOPMed
rs767435597 CA3536156	35	E>D		No	ClinGen ExAC TOPMed gnomAD
CA361998731 rs1343230084	36	P>H		No	ClinGen gnomAD
CA361998732 rs1200105135	36	P>S		No	ClinGen gnomAD
rs1197167568 CA361998723	37	P>L		No	ClinGen TOPMed gnomAD
CA361998726 rs1265422289	37	P>S		No	ClinGen gnomAD
rs1224608170 CA361998721	38	P>A		No	ClinGen gnomAD
CA361998713 rs1317813561	39	S>L		No	ClinGen gnomAD
CA361998703 rs1276939531	41	P>A		No	ClinGen gnomAD
rs1401295796 CA361998699	41	P>L		No	ClinGen gnomAD
rs1276939531 CA361998704	41	P>T		No	ClinGen gnomAD
CA361998693 rs1326522288	42	T>I		No	ClinGen gnomAD
rs759393292 CA3536155	43	L>P		No	ClinGen ExAC gnomAD
rs745813885 CA361998691	43	L>V		No	ClinGen TOPMed gnomAD
CA361998683 rs1393963709	44	S>N		No	ClinGen TOPMed gnomAD
CA361998681 rs1404031548	44	S>R		No	ClinGen gnomAD
CA361998684 rs1393963709	44	S>T		No	ClinGen TOPMed gnomAD
rs1464939869 CA361998677	45	A>E		No	ClinGen gnomAD
rs1337118361 CA361998680	45	A>T		No	ClinGen gnomAD
rs1421382288 CA361998671	46	A>V		No	ClinGen gnomAD
rs200496195 COSM3697107 CA3536153	48	S>N	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA361998652 rs748881474	49	A>E		No	ClinGen ExAC gnomAD
rs748881474 CA3536152	49	A>V		No	ClinGen ExAC gnomAD
rs1276318655 CA361998648	50	T>A		No	ClinGen TOPMed
CA361998639 rs1187054227	51	L>F		No	ClinGen gnomAD
CA130206567 rs980134468	51	L>S		No	ClinGen TOPMed
CA3536151 rs772623933	52	A>S		No	ClinGen ExAC gnomAD
CA361998637 rs772623933	52	A>T		No	ClinGen ExAC gnomAD
CA3536150 rs769310819	53	S>L		No	ClinGen ExAC gnomAD
rs769310819 CA361998629	53	S>W		No	ClinGen ExAC gnomAD
rs1204706873 CA361998626	54	S>T		No	ClinGen gnomAD
CA361998618 rs1216835976	55	C>F		No	ClinGen gnomAD
rs184421438 CA3536148	55	C>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3536147 rs747339848	56	G>R		No	ClinGen ExAC gnomAD
rs747339848 CA3536146	56	G>W		No	ClinGen ExAC gnomAD
rs780300884 CA3536145	59	V>A		No	ClinGen ExAC gnomAD
rs1413338228 CA361998587	60	A>V		No	ClinGen gnomAD
CA3536144 rs200130461	61	S>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1581402588 CA361998584	61	S>T		No	ClinGen Ensembl
CA361998583 rs200130461	61	S>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs765234383 CA3536142	62	G>S		No	ClinGen ExAC gnomAD
rs1478449109 CA361998563	64	Q>H		No	ClinGen TOPMed
rs1397242392 CA361998566	64	Q>P		No	ClinGen gnomAD
rs1162716141 CA361998557	65	P>L		No	ClinGen gnomAD
CA130206546 rs950501562	65	P>S		No	ClinGen TOPMed gnomAD
CA130206538 rs529154539	66	A>T		No	ClinGen 1000Genomes
rs757302973 CA3536141	66	A>V		No	ClinGen ExAC TOPMed gnomAD
CA130206533 rs867879637	68	R>P		No	ClinGen gnomAD
CA361998544 rs867879637	68	R>Q		No	ClinGen gnomAD
CA361998539 rs1236770031	69	R>P		No	ClinGen gnomAD
CA361998540 rs1236770031	69	R>Q		No	ClinGen gnomAD
CA361998542 rs1439401798	69	R>W		No	ClinGen gnomAD
TCGA novel	71	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs549965786 CA3536138	72	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361998517 rs1207540873	73	V>E		No	ClinGen TOPMed gnomAD
rs766152126 CA3536136	74	K>Q		No	ClinGen ExAC gnomAD
rs762549292 CA3536135	74	K>T		No	ClinGen ExAC gnomAD
CA361998503 rs1281092175	75	P>L		No	ClinGen gnomAD
CA361998506 rs1374329927	75	P>S		No	ClinGen gnomAD
rs772857697 CA3536134	76	E>K		No	ClinGen ExAC gnomAD
CA361998502 rs772857697	76	E>Q		No	ClinGen ExAC gnomAD
CA3536132 rs375780537	77	Q>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs375780537 CA361998491	77	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3536130 rs769124717	80	L>Q		No	ClinGen ExAC gnomAD
TCGA novel	81	L>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1179292123 CA361998470	81	L>Q		No	ClinGen TOPMed gnomAD
CA3536129 rs780312525	81	L>V		No	ClinGen ExAC gnomAD
CA3536127 rs772412777	82	P>R		No	ClinGen ExAC gnomAD
CA361998467 rs1228465730	82	P>S		No	ClinGen TOPMed
CA3536125 rs779184079	85	Q>H		No	ClinGen ExAC gnomAD
rs757481677 CA3536124	86	A>T		No	ClinGen ExAC TOPMed gnomAD
CA3536123 rs753939007	87	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1215376733 CA361998432	87	Q>R		No	ClinGen gnomAD
CA361998418 rs1344050897	89	E>G		No	ClinGen gnomAD
CA130206482 rs1007274760	89	E>Q		No	ClinGen TOPMed gnomAD
rs1406732683 CA361998405	91	A>P		No	ClinGen gnomAD
rs1406732683 CA361998406	91	A>S		No	ClinGen gnomAD
rs1030099270 CA130206463	92	A>D		No	ClinGen TOPMed gnomAD
rs751506020 CA3536120	92	A>S		No	ClinGen ExAC TOPMed gnomAD
rs751506020 CA3536121	92	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1030099270 CA361998398	92	A>V		No	ClinGen TOPMed gnomAD
CA3536119 rs766094414	93	A>G		No	ClinGen ExAC gnomAD
rs1343644990 CA361998397	93	A>S		No	ClinGen TOPMed gnomAD
rs757035748 CA130206453	94	S>L		No	ClinGen TOPMed gnomAD
CA130206454 rs757035748	94	S>W		No	ClinGen TOPMed gnomAD
rs750106376 CA3536117	95	S>F		No	ClinGen ExAC TOPMed gnomAD
CA130206452 rs1054625257	95	S>P		No	ClinGen TOPMed
CA3536116 rs764909405	96	A>P		No	ClinGen ExAC gnomAD
rs527293982 CA3536115	96	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs768114157 CA3536113	97	Q>R		No	ClinGen ExAC gnomAD
CA361998363 rs1243433060	99	R>L		No	ClinGen gnomAD
CA361998365 rs1243433060	99	R>Q		No	ClinGen gnomAD
rs1414318688 CA361998367	99	R>W		No	ClinGen TOPMed
rs1216074559 CA361998362	100	L>M		No	ClinGen gnomAD
CA361998358 rs1311354088	100	L>R		No	ClinGen gnomAD
CA3536112 rs761174824	101	L>W		No	ClinGen ExAC gnomAD
rs1277569342 CA361998346	102	Q>L		No	ClinGen TOPMed gnomAD
rs1277569342 CA361998347	102	Q>R		No	ClinGen TOPMed gnomAD
rs561302915 CA3536111	103	F>S		No	ClinGen 1000Genomes ExAC gnomAD
CA361998330 rs1290784918	104	R>S		No	ClinGen gnomAD
CA361998327 rs1431787621	105	P>S		No	ClinGen gnomAD
CA3536107 rs368511711	108	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA361998307 rs368511711	108	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs778034793 CA3536105	110	L>P		No	ClinGen ExAC gnomAD
CA3536104 rs756201148	111	Q>E		No	ClinGen ExAC gnomAD
CA361998282 rs751468351	111	Q>L		No	ClinGen ExAC TOPMed gnomAD
rs751468351 CA3536103	111	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs780031629 CA3536102	112	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA130206433 rs780031629	112	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1235425246 CA361998253	113	P>Q		No	ClinGen gnomAD
rs1235425246 CA361998251	113	P>R		No	ClinGen gnomAD
CA3536099 rs764958878	114	T>I		No	ClinGen ExAC gnomAD
CA361998228 rs546357113	115	A>E		No	ClinGen 1000Genomes TOPMed
rs546357113 CA130206415	115	A>V		No	ClinGen 1000Genomes TOPMed
CA361998198 rs1256849487	118	G>S		No	ClinGen TOPMed
rs1189606949 CA361998175	119	A>V		No	ClinGen TOPMed
CA3536096 rs763607355	120	T>I		No	ClinGen ExAC gnomAD
CA361998144 rs775928712	122	R>W		No	ClinGen ExAC gnomAD
rs182220520 CA3536093	123	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3536092 rs182220520	123	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs749529706 CA3536089	124	E>G		No	ClinGen ExAC gnomAD
CA3536090 rs771385315	124	E>K		No	ClinGen ExAC gnomAD
CA361998096 rs770060513	126	H>Q		No	ClinGen ExAC gnomAD
rs1561586716 CA361998093	127	P>A		No	ClinGen Ensembl
CA3536086 rs533995632	128	V>M		No	ClinGen 1000Genomes ExAC gnomAD
CA361998071 rs1444939953	130	P>L		No	ClinGen gnomAD
rs1444939953 CA361998072	130	P>R		No	ClinGen gnomAD
rs779903375 CA3536085	130	P>S		No	ClinGen ExAC gnomAD
CA3536084 rs199892618	131	L>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201821051 CA130206383	131	L>V		No	ClinGen 1000Genomes TOPMed
CA361998066 rs1469472490	132	A>P		No	ClinGen gnomAD
rs778683328 CA3536082	134	H>P		No	ClinGen ExAC gnomAD
CA3536083 rs200840499	134	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1581402122 CA361998046	135	V>A		No	ClinGen Ensembl
rs756987483 CA3536081	136	K>M		No	ClinGen ExAC gnomAD
rs1321258298 CA361998028	138	K>R		No	ClinGen gnomAD
CA361997989 rs1220076580	143	G>E		No	ClinGen TOPMed gnomAD
rs1383930128 CA361997985	144	P>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1383930128 CA361997984	144	P>R		No	ClinGen TOPMed gnomAD
rs777838721 CA130206355	145	S>R		No	ClinGen gnomAD
CA3536078 rs368133770	147	D>V		No	ClinGen ESP ExAC TOPMed
rs1390070379 CA361997968	147	D>Y		No	ClinGen gnomAD
CA3536077 rs373910813	148	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA3536075 rs760120893	150	V>A		No	ClinGen ExAC gnomAD
CA3536074 rs774658502	151	G>R		No	ClinGen ExAC TOPMed gnomAD
CA3536073 rs13181859	152	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1351885763 CA361997935	153	R>G		No	ClinGen TOPMed gnomAD
CA130206347 rs752774391	153	R>P		No	ClinGen TOPMed gnomAD
CA361997933 rs752774391	153	R>Q		No	ClinGen TOPMed gnomAD
rs954815213 CA130206346	154	G>E		No	ClinGen TOPMed
rs763399249 CA3536072	155	A>T		No	ClinGen ExAC gnomAD
rs770115638 CA3536070	156	V>I		No	ClinGen ExAC gnomAD
rs1490195432 CA361997915	157	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1266891565 CA361997894	160	P>A		No	ClinGen gnomAD
CA361997890 rs1224879901	160	P>L		No	ClinGen gnomAD
CA361997870 rs1360398342	164	R>G		No	ClinGen gnomAD
CA361997869 rs1360398342	164	R>W		No	ClinGen gnomAD
rs1285655937 CA361997863	165	V>M		No	ClinGen TOPMed gnomAD
TCGA novel	171	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs370647331 CA130206340	171	P>S		No	ClinGen ESP TOPMed
CA3536069 rs748265101 COSM207107	172	G>R	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs867870055 CA361997806	174	A>P		No	ClinGen TOPMed
CA130206326 rs867870055	174	A>T		No	ClinGen TOPMed
rs1000335753 CA130206324	175	L>H		No	ClinGen TOPMed gnomAD
rs1000335753 CA361997798	175	L>P		No	ClinGen TOPMed gnomAD
CA3536067 rs549735716	176	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs757031098 CA361997787	177	Y>C		No	ClinGen gnomAD
rs757031098 CA130206319	177	Y>F		No	ClinGen gnomAD
CA361997791 rs1304410625	177	Y>N		No	ClinGen gnomAD
rs878864490 CA130206313	178	F>L		No	ClinGen Ensembl
CA3536066 rs768549062	178	F>L		No	ClinGen ExAC
rs1359494452 CA361997778	179	R>G		No	ClinGen gnomAD
CA361997771 rs1435786666	180	G>W		No	ClinGen gnomAD
CA3536065 rs745829637	181	D>E		No	ClinGen ExAC gnomAD
CA3536064 rs778806190	182	E>K		No	ClinGen ExAC gnomAD
CA361997760 rs778806190	182	E>Q		No	ClinGen ExAC gnomAD
CA361997743 rs1364196423	184	G>C		No	ClinGen gnomAD
rs1364196423 CA361997745	184	G>S		No	ClinGen gnomAD
CA3536063 rs199617450	185	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1543061 CA361997716 rs1465236088	188	A>E	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA3536062 rs749053337	188	A>T		No	ClinGen ExAC gnomAD
CA361997710 rs1431405347	189	E>G		No	ClinGen gnomAD
CA361997697 rs1490549872	191	V>L		No	ClinGen gnomAD
rs1264848299 CA361997691	192	M>V		No	ClinGen TOPMed
CA361997673 rs1044989231	194	D>A		No	ClinGen TOPMed gnomAD
rs1044989231 CA130206304	194	D>G		No	ClinGen TOPMed gnomAD
CA361997667 rs1487033309	195	S>A		No	ClinGen gnomAD
CA361997656 rs1261707016	196	M>I		No	ClinGen gnomAD
CA3536060 rs755816365	197	Q>E		No	ClinGen ExAC gnomAD
rs1157673825 CA361997640	199	G>R		No	ClinGen TOPMed
CA3536054 rs765354418	200	A>E		No	ClinGen ExAC TOPMed gnomAD
CA3536055 rs765354418	200	A>G		No	ClinGen ExAC TOPMed gnomAD
CA361997633 rs1455291379	200	A>S		No	ClinGen gnomAD
TCGA novel	202	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361997621 rs1383583141	202	K>R		No	ClinGen TOPMed gnomAD
rs147343281 CA361997613	203	S>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3536052 rs147343281	203	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs755415991 CA361997612	203	S>R		No	ClinGen TOPMed
rs147343281 CA361997614	203	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1468096804 CA361997605	204	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1468096804 CA361997607	204	P>Q		No	ClinGen TOPMed gnomAD
CA3536049 rs768836856	206	A>G		No	ClinGen ExAC TOPMed gnomAD
rs776659008 CA3536050	206	A>T		No	ClinGen ExAC gnomAD
CA3536048 rs760667268	207	I>V		No	ClinGen ExAC
TCGA novel	208	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361997572 rs1263415020	210	G>D		No	ClinGen TOPMed
rs562839509 CA3536046	211	V>M		No	ClinGen 1000Genomes ExAC gnomAD
CA3536045 rs61732990	216	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361997528 rs1460307896	217	P>S		No	ClinGen gnomAD
rs1218538409 CA361997494	222	E>Q		No	ClinGen gnomAD
CA3536044 rs777578316	223	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1338120185 CA361997464	226	L>V		No	ClinGen gnomAD
CA361997456 rs1229025361	227	G>D		No	ClinGen gnomAD
CA3536042 rs747852816	228	A>T		No	ClinGen ExAC gnomAD
CA361997449 rs1311636995	228	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3536040 rs41275269	229	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1337262100 CA361997439	230	P>S		No	ClinGen gnomAD
CA3536038 rs779659102	231	A>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	231	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200200095 CA361997429	232	S>A		No	ClinGen 1000Genomes ExAC gnomAD
rs200200095 CA3536037	232	S>T		No	ClinGen 1000Genomes ExAC gnomAD
CA3536035 rs765644268	233	N>K		No	ClinGen ExAC gnomAD
CA3536036 rs201705316	233	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1164648029 CA361997413	235	L>M		No	ClinGen TOPMed
rs1183238755 CA361997410	235	L>P		No	ClinGen gnomAD
rs1183238755 CA361997409	235	L>R		No	ClinGen gnomAD
rs1443091851 CA361997404	236	V>A		No	ClinGen gnomAD
rs189562767 CA3536033	237	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1184646919 CA361997401	237	H>Y		No	ClinGen TOPMed gnomAD
rs375074796 CA130206200	238	G>D		No	ClinGen ESP TOPMed
CA361997384 rs764191705	239	S>R		No	ClinGen ExAC TOPMed gnomAD
CA361997377 rs1197017801	240	A>V		No	ClinGen gnomAD
CA361997373 rs1581401613	241	E>G		No	ClinGen Ensembl
CA361997363 rs1581401605	242	V>G		No	ClinGen Ensembl
CA3536031 rs760792596	242	V>I		No	ClinGen ExAC gnomAD
rs775569741 CA3536030	243	I>F		No	ClinGen ExAC gnomAD
rs772101255 CA3536029	243	I>M		No	ClinGen ExAC TOPMed gnomAD
rs775569741 CA361997362	243	I>V		No	ClinGen ExAC gnomAD
rs1315449134 CA361997356	244	L>V		No	ClinGen gnomAD
CA361997348 rs1351066802	245	A>S		No	ClinGen TOPMed
rs1441262894 CA361997341	246	P>Q		No	ClinGen gnomAD
CA361997338 rs1333905939	247	T>A		No	ClinGen gnomAD
CA3536028 rs555036178	247	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361997337 rs1333905939	247	T>P		No	ClinGen gnomAD
CA3536027 rs555036178	247	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361997336 rs1333905939	247	T>S		No	ClinGen gnomAD
CA361997330 rs1218736431	248	S>C		No	ClinGen TOPMed gnomAD
rs769691191 CA3536026	249	G>A		No	ClinGen ExAC gnomAD
CA361997328 rs1397309425	249	G>S		No	ClinGen gnomAD
CA361997284 rs1469996971	255	Q>L		No	ClinGen gnomAD
rs760967071 CA130206174	256	Q>*		No	ClinGen Ensembl
CA3536024 rs780942227	256	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA3536023 rs768211894	258	L>F		No	ClinGen ExAC
rs746615986 CA3536022	258	L>H		No	ClinGen ExAC gnomAD
rs1267578962 CA361997254	260	I>L		No	ClinGen TOPMed gnomAD
rs1254682721 CA361997248	261	P>A		No	ClinGen TOPMed
TCGA novel	261	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1254682721 CA361997247	261	P>S		No	ClinGen TOPMed
rs1219685021 CA361997240	262	L>S		No	ClinGen gnomAD
rs146552384 CA3536018	265	H>P		No	ClinGen ESP ExAC TOPMed
CA3536017 rs200619263	266	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs200619263 CA3536016	266	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs756360302 CA3536014	267	V>A		No	ClinGen ExAC gnomAD
CA3536011 rs377151485	269	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA3536012 rs377151485	269	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1344859282 CA361997192	271	A>P		No	ClinGen gnomAD
CA361997190 rs1344859282	271	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA361997183 rs372981162	272	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3536009 rs372981162	272	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA361997176 rs1296548842	273	I>M		No	ClinGen TOPMed
CA3536006 rs377328851	274	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs776319178 CA3536007	274	Q>R		No	ClinGen ExAC gnomAD
CA3536005 rs145631632	275	F>L		No	ClinGen ESP ExAC gnomAD
TCGA novel	276	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775264902 CA3536004	276	Q>R		No	ClinGen ExAC gnomAD
CA3536003 rs373290874	277	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA3536001 rs779522580	278	A>G		No	ClinGen ExAC TOPMed gnomAD
CA361997140 rs1490714905	279	P>L		No	ClinGen gnomAD
rs773673108 CA130206101	284	I>T		No	ClinGen Ensembl
CA3536000 rs757726246	285	R>G		No	ClinGen ExAC gnomAD
CA361997107 rs1214640919	285	R>K		No	ClinGen gnomAD
rs369810871 CA3535999	285	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3535998 rs778006728	287	T>S		No	ClinGen ExAC gnomAD
CA361997084 rs1484499091	288	K>N		No	ClinGen TOPMed
rs1322725854 CA361997077	290	P>A		No	ClinGen gnomAD
rs1281364002 CA361997073	290	P>R		No	ClinGen gnomAD
CA130206074 rs868064606	291	L>P		No	ClinGen TOPMed
TCGA novel	293	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752977125 CA3535996	293	P>S		No	ClinGen ExAC
CA3535995 rs767725191	294	V>M		No	ClinGen ExAC TOPMed gnomAD
CA3535994 rs755094881	295	P>S		No	ClinGen ExAC gnomAD
CA3535993 rs140634422	296	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA3535991 rs761656318	297	K>R		No	ClinGen ExAC gnomAD
rs375931805 CA3535987	300	S>F	Variant assessed as Somatic; 4.662e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs760540410 CA3535988	300	S>P		No	ClinGen ExAC gnomAD
rs760540410 CA3535989	300	S>T		No	ClinGen ExAC gnomAD
rs771828551 CA3535986	302	L>M		No	ClinGen ExAC TOPMed gnomAD
rs745475350 CA3535985	302	L>P		No	ClinGen ExAC gnomAD
rs1173980536 CA361997003	303	E>V		No	ClinGen TOPMed
rs1188838861 CA361996998	304	P>T		No	ClinGen TOPMed gnomAD
CA3535984 rs773766367	306	V>I		No	ClinGen ExAC gnomAD
TCGA novel	308	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1243555995 CA361996957	310	T>A		No	ClinGen gnomAD
rs749774613 CA3535982	311	K>R		No	ClinGen ExAC gnomAD
rs145755542 CA3535981 COSM1543062	313	V>I	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA361996931 rs1302041062	314	P>A		No	ClinGen gnomAD
CA3535979 rs372385610	314	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs200887553 CA130206034	315	L>P		No	ClinGen 1000Genomes
rs1581401266 CA361996920	316	T>A		No	ClinGen Ensembl
TCGA novel	317	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1366401001 CA361996908	318	L>S		No	ClinGen TOPMed
CA361996897 rs1302717710	320	S>P		No	ClinGen TOPMed
rs1581401240 CA361996889	321	D>Y		No	ClinGen Ensembl
CA361996875 rs1471255784	323	G>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA361996858 rs1423576588	323	G>D		No	ClinGen gnomAD
CA3535956 rs748609903	324	I>V		No	ClinGen ExAC
rs769004333 CA3535954	325	P>L		No	ClinGen ExAC gnomAD
CA3535953 rs139570139	328	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA3535952 rs780316795	328	P>L		No	ClinGen ExAC gnomAD
rs139570139 CA130205359	328	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA361996818 rs1355822516	330	S>G		No	ClinGen TOPMed gnomAD
CA3535951 rs758446152	330	S>N		No	ClinGen ExAC gnomAD
rs1355822516 CA361996817	330	S>R		No	ClinGen TOPMed gnomAD
rs750492926 CA3535950	332	D>N		No	ClinGen ExAC gnomAD
rs1581399791 CA361996800	332	D>V		No	ClinGen Ensembl
rs756152143 CA361996769	336	H>Q		No	ClinGen ExAC gnomAD
CA361996753 rs1257312050	339	R>*		No	ClinGen Ensembl
rs1490204792 CA361996724	343	A>S		No	ClinGen TOPMed
CA3535945 rs759363136	346	V>I		No	ClinGen ExAC TOPMed gnomAD
CA361996666 rs1581399739	351	H>P		No	ClinGen Ensembl
rs574355786 COSM173736 CA3535942	352	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs772733963 CA3535941	353	P>R		No	ClinGen ExAC gnomAD
TCGA novel	353	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1458165702 CA361996635	357	K>E		No	ClinGen gnomAD
rs1480652766 CA361996610	360	P>L		No	ClinGen TOPMed
rs1363045687 CA361996607	361	A>T		No	ClinGen TOPMed gnomAD
CA130205315 rs998523166	363	N>H		No	ClinGen Ensembl
rs139751808 CA3535940	363	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	368	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA130205304 rs192864736	373	L>F		No	ClinGen 1000Genomes gnomAD
CA361996519 rs1561585042	374	E>Q		No	ClinGen Ensembl
CA361996491 rs1159364230	377	K>R		No	ClinGen TOPMed
CA3535937 rs147359711	379	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1214140499 CA361996409	388	D>G		No	ClinGen TOPMed gnomAD
rs765335207 CA3535936	388	D>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	390	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA130205273 rs879144659	391	Q>H		No	ClinGen Ensembl
CA361996386 rs1289593487	391	Q>R		No	ClinGen gnomAD
CA130205270 rs879214357	392	K>M		No	ClinGen Ensembl
TCGA novel	392	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA130205263 rs1055208450	395	E>K		No	ClinGen gnomAD
CA130205245 rs757877671	399	E>A		No	ClinGen ExAC TOPMed gnomAD
rs757877671 CA3535935	399	E>G		No	ClinGen ExAC TOPMed gnomAD
rs757877671 CA130205225	399	E>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	402	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA130205219 rs928236827	403	G>S		No	ClinGen Ensembl
CA3535916 rs761305589	405	V>I		No	ClinGen ExAC gnomAD
rs1581398345 CA361996273	406	Y>H		No	ClinGen Ensembl
rs1293071091 CA361996262	407	Q>R		No	ClinGen gnomAD
CA3535915 rs777160108 COSM1672086	409	R>H	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs764638849 CA3535914	410	P>A		No	ClinGen ExAC gnomAD
rs1468142977 COSM1065056 CA361996213	415	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs761036929 CA3535913	416	F>Y		No	ClinGen ExAC gnomAD
CA3535911 rs142696275	418	L>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3535910 rs746101906	419	S>R		No	ClinGen ExAC TOPMed gnomAD
rs774702219 CA3535909	421	S>C		No	ClinGen ExAC TOPMed
TCGA novel	421	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361996177 rs774702219	421	S>Y		No	ClinGen ExAC TOPMed
CA3535908 rs61732992	422	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1249063071 CA361996166	423	V>I		No	ClinGen gnomAD
TCGA novel	425	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	429	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3535907 rs12188040 VAR_049563	429	Q>K		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	430	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1258965288 CA361996109	431	I>M		No	ClinGen TOPMed gnomAD
rs1200521591 CA361996106	432	I>F		No	ClinGen gnomAD
TCGA novel	433	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	436	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361996077 rs1320939250	436	P>R		No	ClinGen TOPMed
rs781043876 CA3535906	437	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1249217821 CA361996072	437	T>R		No	ClinGen gnomAD
CA130204361 rs1001599793	438	T>I		No	ClinGen TOPMed
rs1001599793 CA130204362	438	T>K		No	ClinGen TOPMed
CA130204360 rs905962060	439	V>A		No	ClinGen TOPMed gnomAD
CA3535905 rs189276205	443	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA130204357 rs760251674	443	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs189276205 CA361996039	443	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs746885177 CA361996034	444	S>A		No	ClinGen ExAC TOPMed gnomAD
rs779907360 CA3535903	444	S>L		No	ClinGen ExAC
rs746885177 CA3535904	444	S>P		No	ClinGen ExAC TOPMed gnomAD
rs143957878 CA3535902	446	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1384887922 CA361996021	446	T>M		No	ClinGen TOPMed gnomAD
rs200026442 CA3535901	447	Y>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	447	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361995999 rs1396615046	450	V>L		No	ClinGen gnomAD
CA130204342 rs930549471	451	I>N		No	ClinGen Ensembl
rs764836124 CA3535900	456	N>S		No	ClinGen ExAC gnomAD
CA3535899 rs146949812	459	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs753409516 CA3535898	461	P>L		No	ClinGen ExAC
CA3535896 rs761248876	462	V>G		No	ClinGen ExAC gnomAD
CA3535897 rs763470496	462	V>L		No	ClinGen ExAC TOPMed gnomAD
CA130201462 rs11952354	466	S>*		No	ClinGen Ensembl
CA130201460 rs1050276877	467	P>L		No	ClinGen Ensembl
CA361995020 rs1581393412	468	A>V		No	ClinGen Ensembl
rs773376438 CA3535888	469	I>M		No	ClinGen ExAC gnomAD
CA361995016 rs1238276442	469	I>V		No	ClinGen gnomAD
rs769700338 CA3535887	473	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1306231288 CA361994992	473	T>P		No	ClinGen gnomAD
rs1371388540 CA361994987	474	P>T		No	ClinGen gnomAD
CA361994981 rs1423085633	475	A>T		No	ClinGen gnomAD
rs1164248517 CA361994965 COSM1672085	477	Q>R	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1470045216 CA361994958	478	S>N		No	ClinGen gnomAD
rs747021626 CA3535886	480	S>G		No	ClinGen ExAC gnomAD
CA361994936 rs1472639165	481	P>R		No	ClinGen TOPMed gnomAD
CA130201446 rs771890744	482	V>A		No	ClinGen ExAC TOPMed gnomAD
CA3535884 rs771890744	482	V>G		No	ClinGen ExAC TOPMed gnomAD
rs779848271 CA3535885	482	V>I		No	ClinGen ExAC gnomAD
CA3535882 rs778628194	486	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs905620187 CA130201439	487	P>S		No	ClinGen TOPMed
CA361994888 rs1348450375	488	S>I		No	ClinGen TOPMed gnomAD
CA361994890 rs1348450375	488	S>T		No	ClinGen TOPMed gnomAD
CA3535879 rs367950219 COSM377001	489	V>I	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA3535878 rs755566224	491	S>G		No	ClinGen ExAC gnomAD
CA3535877 rs149472054	491	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1351877821 CA361994823	492	A>V		No	ClinGen gnomAD
CA3535876 rs768108521	493	A>S		No	ClinGen ExAC gnomAD
CA3535875 rs138471751	495	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs745645282 CA130201426	496	A>D		No	ClinGen Ensembl
CA130201425 rs745645282	496	A>V		No	ClinGen Ensembl
CA361994722 rs1162003362	499	D>A		No	ClinGen gnomAD
CA3535873 rs766780534	499	D>E		No	ClinGen ExAC gnomAD
TCGA novel	499	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA130201420 rs1047669599	501	S>R		No	ClinGen TOPMed
CA361994679 rs1220156618	502	L>I		No	ClinGen TOPMed
CA361994657 rs1325464530	503	P>R		No	ClinGen TOPMed
rs1350386711 CA361994652	504	V>I		No	ClinGen TOPMed
rs1478791151 CA361994628	505	Y>C		No	ClinGen gnomAD
rs773254878 CA3535871	505	Y>H		No	ClinGen ExAC gnomAD
TCGA novel	506	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	508	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1246993470 CA361994582	509	P>L		No	ClinGen gnomAD
CA361994577 rs1329011363	510	P>R		No	ClinGen TOPMed
rs1192186049 CA361994579	510	P>S		No	ClinGen gnomAD
rs929246953 CA130201414	511	Q>K		No	ClinGen TOPMed
TCGA novel	511	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3535869 rs571563119 COSM207095	512	R>C	Variant assessed as Somatic; 0.0 impact. oesophagus large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs370510848 CA3535868 COSM207094	512	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs571563119 CA361994568	512	R>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA130201405 rs201459784	513	F>V		No	ClinGen gnomAD
rs1369979711 CA361994552	514	T>I		No	ClinGen gnomAD
CA361994556 rs1283199991	514	T>P		No	ClinGen TOPMed
CA3535867 rs377581367	517	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1581393244 CA361994538	517	S>P		No	ClinGen Ensembl
CA3535866 rs745740721	518	Q>E		No	ClinGen ExAC gnomAD
CA3535865 rs781097646	519	T>A		No	ClinGen ExAC TOPMed gnomAD
CA361994523 rs1561581219	519	T>I		No	ClinGen Ensembl
CA361994527 rs781097646	519	T>P		No	ClinGen ExAC TOPMed gnomAD
CA361994513 rs1458211936	521	T>A		No	ClinGen TOPMed gnomAD
CA130201387 rs200265531	521	T>I		No	ClinGen gnomAD
CA361994514 rs1458211936	521	T>P		No	ClinGen TOPMed gnomAD
CA3535863 rs749018375	522	H>D		No	ClinGen ExAC TOPMed gnomAD
rs749018375 CA3535862 COSM737004	522	H>Y	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs755716247 CA3535860	525	H>R		No	ClinGen ExAC gnomAD
CA3535861 rs150102127	525	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752133831 CA3535859	526	S>F		No	ClinGen ExAC gnomAD
rs1474282052 CA361994451	531	T>A		No	ClinGen gnomAD
rs780788334 CA3535858	531	T>N		No	ClinGen ExAC TOPMed gnomAD
rs755544518 CA3535857	533	K>Q		No	ClinGen ExAC gnomAD
rs1277044164 CA361994433	534	Q>K		No	ClinGen Ensembl
rs113663535 CA130201369	539	S>P		No	ClinGen Ensembl
rs142979427 RCV000908165 CA3535856	540	L>P		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA361994392 rs1208035742	541	E>K		No	ClinGen gnomAD
CA361994391 rs1208035742	541	E>Q		No	ClinGen gnomAD
rs758664177 CA3535854	543	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs750727674 CA3535853	544	N>S		No	ClinGen ExAC gnomAD
rs757362004 CA130201359	545	R>S		No	ClinGen Ensembl
TCGA novel	547	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1561581166 CA361994334	549	S>N		No	ClinGen Ensembl
rs765367264 CA3535852	549	S>R		No	ClinGen ExAC gnomAD
CA3535851 rs762040026	554	H>R		No	ClinGen ExAC TOPMed gnomAD
CA3535849 rs565834542	557	F>L		No	ClinGen 1000Genomes ExAC TOPMed
rs192793736 CA3535848	558	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs145658817 CA3535847	559	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs145658817 CA3535846	559	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs75818287 CA3535845 RCV000884559	560	S>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA361994256 rs1465887287	561	T>N		No	ClinGen TOPMed
rs73306857 CA3535843 RCV000956349	563	Q>P		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3535841 rs138390114	564	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	564	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754485706 CA3535840	566	R>S		No	ClinGen ExAC gnomAD
rs1356710600 CA361994181	566	R>W		No	ClinGen TOPMed
rs112851243 CA130201327	567	E>K		No	ClinGen Ensembl
rs1183556023 CA361994140	568	Y>C		No	ClinGen gnomAD
CA3535837 rs370749800	571	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs370749800 CA3535838	571	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1203969817 CA361994059	573	P>L		No	ClinGen gnomAD
CA3535835 rs145022337	575	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs373125772 CA3535834	576	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA361994007 rs1359182443	576	R>S		No	ClinGen gnomAD
CA3535833 rs754012135	577	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1230552912 CA361993989	577	S>R		No	ClinGen gnomAD
COSM1132224 rs1440882052 CA361993987	578	A>T	prostate [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1439291382 CA361993977	578	A>V		No	ClinGen TOPMed gnomAD
CA361993963 rs1380578059	579	P>L		No	ClinGen gnomAD
CA361993956 rs764208651	580	I>F		No	ClinGen ExAC TOPMed gnomAD
CA3535832 rs764208651	580	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1371961700 CA361993941	581	P>A		No	ClinGen gnomAD
CA361993896 rs1581393052	583	A>V		No	ClinGen Ensembl
rs1423716005 CA361993895	584	S>T		No	ClinGen gnomAD
rs1166720450 CA361993862	586	I>V		No	ClinGen TOPMed gnomAD
rs1424297561 CA361993844	587	P>A		No	ClinGen gnomAD
rs1407257134 CA361993831	588	H>N		No	ClinGen gnomAD
rs1581393041 CA361993820	588	H>P		No	ClinGen Ensembl
CA361993817 rs1462355944	588	H>Q		No	ClinGen TOPMed
rs1181539821 CA361993799	589	P>L		No	ClinGen TOPMed gnomAD
TCGA novel	590	H>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361993784 rs1581393028	590	H>L		No	ClinGen Ensembl
CA361993757 rs1254168354	592	Y>C		No	ClinGen TOPMed gnomAD
rs1206179365 CA361993724	594	P>L		No	ClinGen gnomAD
CA361993720 rs762888516	595	P>L		No	ClinGen ExAC TOPMed gnomAD
rs762888516 CA3535828	595	P>R		No	ClinGen ExAC TOPMed gnomAD
CA361993722 rs201680419	595	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3535829 rs201680419	595	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1224324159 CA361993718	596	P>A		No	ClinGen gnomAD
rs997432283 CA361993703	598	G>A		No	ClinGen gnomAD
rs997432283 CA130201303	598	G>V		No	ClinGen gnomAD
CA3535827 rs772885551	599	H>R		No	ClinGen ExAC gnomAD
CA3535825 rs747775823	600	P>L		No	ClinGen ExAC gnomAD
CA361993685 rs1403926234	601	A>G		No	ClinGen gnomAD
CA361993675 rs1458272846	603	L>Q		No	ClinGen gnomAD
rs35793864 CA130201289	604	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3535822 rs746507800	605	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3535821 rs779655486	606	T>A		No	ClinGen ExAC
CA3535820 rs576437768	608	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs200118199 CA3535819	609	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
COSM3827564 rs779168856 CA3535818	610	F>L	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA
rs1202430003 CA361993631	611	S>P		No	ClinGen TOPMed
CA3535817 rs757620374	611	S>Y		No	ClinGen ExAC gnomAD
TCGA novel	612	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754100017 CA3535816	613	H>R		No	ClinGen ExAC TOPMed gnomAD
CA361993600 rs1489011399	615	P>R		No	ClinGen gnomAD
rs1193224815 CA361993602	615	P>S		No	ClinGen gnomAD
CA361993570 rs1207413970 CA361993571	620	G>R		No	ClinGen TOPMed gnomAD
CA3535813 rs752786641	622	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1429016559 CA361993557	622	H>Y		No	ClinGen TOPMed
CA130201259 rs202017271	624	F>L		No	ClinGen TOPMed gnomAD
CA3535811 rs546213021	625	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA361991505 rs1295092055	630	P>H		No	ClinGen gnomAD
rs1306613223 CA361991509	630	P>S		No	ClinGen gnomAD
TCGA novel	631	Y>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA130197095 rs868249118	632	S>N		No	ClinGen gnomAD
CA361991465 rs868249118	632	S>T		No	ClinGen gnomAD
CA3535791 rs200647220	633	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1365762031 CA361991453	633	R>W		No	ClinGen gnomAD
CA361991445 rs1395481917	634	P>S		No	ClinGen gnomAD
CA3535788 rs147847969	638	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA3535787 rs761787687	642	P>L		No	ClinGen ExAC TOPMed gnomAD
rs368081998 CA3535786	645	M>I		No	ClinGen 1000Genomes ExAC gnomAD
rs201464813 CA3535785	647	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA130197072 rs201215782	649	L>F		No	ClinGen TOPMed
CA361991249 rs1333368166	650	S>G		No	ClinGen TOPMed
rs545348427 CA3535783	652	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs771523158 CA3535782	655	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1228371237 CA361991160	655	R>K		No	ClinGen Ensembl
CA361991134 rs1200576572	656	Y>*		No	ClinGen gnomAD
rs1482515339 CA361991111	658	K>E		No	ClinGen gnomAD
CA130197056 rs754093829	658	K>N		No	ClinGen TOPMed
rs759082312 CA3535781	659	H>L		No	ClinGen ExAC TOPMed gnomAD
rs759082312 CA361991087	659	H>R		No	ClinGen ExAC TOPMed gnomAD
CA361991092 rs1363983446	659	H>Y		No	ClinGen TOPMed
rs774777458 CA3535779	660	E>K		No	ClinGen ExAC gnomAD
CA3535778 rs771440810	661	G>V	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs778139843 CA3535776	665	T>I		No	ClinGen ExAC gnomAD
rs748365237 CA3535774	667	N>D		No	ClinGen ExAC gnomAD
CA3535773 rs142156325	667	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	668	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1052514350 CA130197018	669	D>G		No	ClinGen TOPMed
rs369122987 CA130197021	669	D>N		No	ClinGen ESP TOPMed
TCGA novel	670	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3535772 rs755076952	670	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1306410775 CA361990845	670	Y>H		No	ClinGen gnomAD
rs536800017 CA361990805	671	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3535771 rs536800017	671	S>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA130197011 rs760386409	674	D>G		No	ClinGen gnomAD
CA130197008 rs760386409	674	D>V		No	ClinGen gnomAD
CA3535770 rs779936102	677	S>N		No	ClinGen ExAC gnomAD
rs1370770930 CA361990573	678	E>G		No	ClinGen gnomAD
rs1187565698 CA361990501	680	T>A		No	ClinGen gnomAD
CA3535768 rs139465019	681	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs150502541 CA3535767	682	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1171960861 CA361990397	683	E>V		No	ClinGen TOPMed
CA3535766 rs755944607	685	S>F		No	ClinGen ExAC gnomAD
CA3535765 rs752358794	686	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs934659812 CA130196988	686	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA3535764 rs767186713	687	S>I		No	ClinGen ExAC gnomAD
CA130196983 rs573787598	690	N>D		No	ClinGen 1000Genomes
CA3535763 rs759052122	691	M>L		No	ClinGen ExAC TOPMed gnomAD
CA361990196 rs1387541406	692	N>Y		No	ClinGen TOPMed
CA361990168 rs1233904965	693	G>E		No	ClinGen TOPMed gnomAD
CA361990162 rs1233904965	693	G>V		No	ClinGen TOPMed gnomAD
CA361990155 rs1349985263	694	T>A		No	ClinGen gnomAD
CA3535762 COSM1696659 rs142572629	695	S>F	skin [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs968814244 CA130196975	696	Y>C		No	ClinGen TOPMed gnomAD
rs1393425807 CA361990101	697	Y>C		No	ClinGen TOPMed gnomAD
CA3535760 rs74786572	697	Y>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1393425807 CA361990100	697	Y>S		No	ClinGen TOPMed gnomAD
CA361990079 rs1456199891	700	H>D		No	ClinGen gnomAD
CA361990073 rs1183765144	700	H>Q		No	ClinGen gnomAD
CA361990076 rs1409099272	700	H>R		No	ClinGen TOPMed gnomAD
CA361990066 rs1193872959	701	S>R		No	ClinGen gnomAD
rs776771854 CA361990062	702	H>L		No	ClinGen ExAC gnomAD
rs748537714 CA3535757	702	H>N		No	ClinGen ExAC TOPMed gnomAD
rs776771854 CA3535756	702	H>R		No	ClinGen ExAC gnomAD
rs748537714 CA3535758	702	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs768932669 CA3535755	704	G>R		No	ClinGen ExAC gnomAD
TCGA novel	706	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747161456 CA3535754	707	N>D		No	ClinGen ExAC gnomAD
CA3535753 rs780305936	707	N>T		No	ClinGen ExAC gnomAD
CA361990019 rs1203621568	708	L>F		No	ClinGen TOPMed
rs758531533 CA3535752	710	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs749279970 CA3535751	711	V>A		No	ClinGen ExAC TOPMed gnomAD
rs777849723 CA3535750	716	I>S		No	ClinGen ExAC gnomAD
CA361989942 rs1434710208	720	E>V		No	ClinGen gnomAD
rs1447682272 CA361989920	723	F>C		No	ClinGen TOPMed
CA361989917 rs1581384974	724	T>P		No	ClinGen Ensembl
rs1198224086 CA361989906	725	A>V		No	ClinGen TOPMed
rs752549193 COSM1266494 CA3535748	726	P>L	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
TCGA novel	727	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3535746 rs754688848	727	T>I		No	ClinGen ExAC TOPMed gnomAD
CA361989888 rs1457321055	729	T>P		No	ClinGen gnomAD
rs929640072 CA130196929	733	I>N		No	ClinGen TOPMed gnomAD
CA361989855 rs1478859817	734	Q>*		No	ClinGen TOPMed gnomAD
CA361989843 rs1272139730	735	Q>H		No	ClinGen Ensembl
rs78592223 CA130196926	735	Q>K		No	ClinGen gnomAD
CA3535743 rs142943693	737	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA361989814 rs1447683767	740	D>G		No	ClinGen TOPMed gnomAD
rs374343963 CA3535740	740	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA361989807 rs1561576593	741	S>T		No	ClinGen Ensembl
rs865995444 CA130196904	743	E>K		No	ClinGen Ensembl
CA361989787 rs1347449776	744	E>K		No	ClinGen gnomAD
rs1228202119 CA361989779	745	E>K		No	ClinGen gnomAD
rs1323145872 CA361989771	746	E>K		No	ClinGen gnomAD
TCGA novel	747	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1430773160 CA361989762	747	E>K		No	ClinGen gnomAD
VAR_024485 rs889057 CA3535735	749	V>M		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1320658947 CA361989740	750	L>F		No	ClinGen TOPMed gnomAD
rs1395379643 CA361989729	752	D>N		No	ClinGen gnomAD

No associated diseases with O94993

1 regional properties for O94993

Type	Name	Position	InterPro Accession
domain	High mobility group box domain	336 - 406	IPR009071

Functions

		Description
EC Number
Subcellular Localization	Nucleus Cytoplasm	Enriched at the chromocenter
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
chromatin	The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
chromocenter	A region in which centric, heterochromatic portions from more than one chromosomes form a compact structure.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
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.

6 GO annotations of molecular function

Name	Definition
beta-catenin binding	Binding to a catenin beta subunit.
DNA-binding transcription activator activity, RNA polymerase II-specific	A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets transcribed by RNA polymerase II.
DNA-binding transcription factor activity, RNA polymerase II-specific	A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II.
DNA-binding transcription repressor activity, RNA polymerase II-specific	A DNA-binding transcription factor activity that represses or decreases the transcription of specific gene sets transcribed by RNA polymerase II.
RNA polymerase II cis-regulatory region sequence-specific DNA binding	Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II.
sequence-specific double-stranded DNA binding	Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding.

7 GO annotations of biological process

Name	Definition
negative regulation of transcription by RNA polymerase II	Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
negative regulation of Wnt signaling pathway	Any process that stops, prevents, or reduces the frequency, rate or extent of the Wnt signaling pathway.
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.
proacrosomal vesicle fusion	Fusion of the membrane of proacrosomal vesicle with the membrane of another proacrosomal vesicle to form the acrosome.
regulation of transcription by RNA polymerase II	Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.
response to corticosteroid	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a corticosteroid hormone stimulus. A corticosteroid is a steroid hormone that is produced in the adrenal cortex. Corticosteroids are involved in a wide range of physiologic systems such as stress response, immune response and regulation of inflammation, carbohydrate metabolism, protein catabolism, blood electrolyte levels, and behavior. They include glucocorticoids and mineralocorticoids.
spermatid development	The process whose specific outcome is the progression of a spermatid over time, from its formation to the mature structure.

13 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P48435	SOX11	Transcription factor SOX-11	Gallus gallus (Chicken)	SS
P48436	SOX9	Transcription factor SOX-9	Homo sapiens (Human)	PR
P35716	SOX11	Transcription factor SOX-11	Homo sapiens (Human)	EV
O15370	SOX12	Transcription factor SOX-12	Homo sapiens (Human)	SS
Q04887	Sox9	Transcription factor SOX-9	Mus musculus (Mouse)	PR
Q04886	Sox8	Transcription factor SOX-8	Mus musculus (Mouse)	SS
Q04888	Sox10	Transcription factor SOX-10	Mus musculus (Mouse)	PR
Q7M6Y2	Sox11	Transcription factor SOX-11	Mus musculus (Mouse)	SS
Q05738	Sry	Sex-determining region Y protein	Mus musculus (Mouse)	SS
Q04890	Sox12	Transcription factor SOX-12	Mus musculus (Mouse)	SS
P0C1G9	Sox11	Transcription factor SOX-11	Rattus norvegicus (Rat)	SS
Q8T3B9	sem-2	Transcription factor sem-2	Caenorhabditis elegans	SS
Q6GLH8	sox17b.2	Transcription factor Sox-17-beta.2	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR

10	20	30	40	50	60
MERARPEPPP	QPRPLRPAPP	PLPVEGTSFW	AAAMEPPPSS	PTLSAAASAT	LASSCGEAVA
70	80	90	100	110	120
SGLQPAVRRL	LQVKPEQVLL	LPQPQAQNEE	AAASSAQARL	LQFRPDLRLL	QPPTASDGAT
130	140	150	160	170	180
SRPELHPVQP	LALHVKAKKQ	KLGPSLDQSV	GPRGAVETGP	RASRVVKLEG	PGPALGYFRG
190	200	210	220	230	240
DEKGKLEAEE	VMRDSMQGGA	GKSPAAIREG	VIKTEEPERL	LEDCRLGAEP	ASNGLVHGSA
250	260	270	280	290	300
EVILAPTSGA	FGPHQQDLRI	PLTLHTVPPG	ARIQFQGAPP	SELIRLTKVP	LTPVPTKMQS
310	320	330	340	350	360
LLEPSVKIET	KDVPLTVLPS	DAGIPDTPFS	KDRNGHVKRP	MNAFMVWARI	HRPALAKANP
370	380	390	400	410	420
AANNAEISVQ	LGLEWNKLSE	EQKKPYYDEA	QKIKEKHREE	FPGWVYQPRP	GKRKRFPLSV
430	440	450	460	470	480
SNVFSGTTQN	IISTNPTTVY	PYRSPTYSVV	IPSLQNPITH	PVGETSPAIQ	LPTPAVQSPS
490	500	510	520	530	540
PVTLFQPSVS	SAAQVAVQDP	SLPVYPALPP	QRFTGPSQTD	THQLHSEATH	TVKQPTPVSL
550	560	570	580	590	600
ESANRISSSA	STAHARFATS	TIQPPREYSS	VSPCPRSAPI	PQASPIPHPH	VYQPPPLGHP
610	620	630	640	650	660
ATLFGTPPRF	SFHHPYFLPG	PHYFPSSTCP	YSRPPFGYGN	FPSSMPECLS	YYEDRYPKHE
670	680	690	700	710	720
GIFSTLNRDY	SFRDYSSECT	HSENSRSCEN	MNGTSYYNSH	SHSGEENLNP	VPQLDIGTLE
730	740	750
NVFTAPTSTP	SSIQQVNVTD	SDEEEEEKVL	RDL