AiPD: Autoinhibited Protein Database

Q13207

Gene name	TBX2
Protein name	T-box transcription factor TBX2
Names	T-box protein 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:6909
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

345-424 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

345-424 (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 Q13207

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q13207-F1	Predicted				AlphaFoldDB

635 variants for Q13207

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA400469508 RCV000625998 VAR_081780 rs1364709483 RCV000723359	20	R>Q	Vertebral anomalies and variable endocrine and T-cell dysfunction VETD; unknown pathological significance; decreased transcriptional regulatory activity; no effect on localization to the nucleus [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
RCV001257454 rs2060258573	37	F>C	Vertebral anomalies and variable endocrine and T-cell dysfunction [ClinVar]	Yes	ClinVar dbSNP
rs1555877071 RCV000624455 VAR_081781 RCV000723360 CA400473087	305	R>H	Vertebral anomalies and variable endocrine and T-cell dysfunction Variant assessed as Somatic; impact. Inborn genetic diseases VETD; de novo variant; decreased transcriptional regulatory activity; no effect on localization to the nucleus [ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP
rs1198462287 RCV001329511 CA400474123	432	K>R	Vertebral anomalies and variable endocrine and T-cell dysfunction [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001252869 rs763593217 CA8689436	593	T>N	Microcephaly [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA8689019 rs754766050	4	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1179281640 CA400469392	4	P>S		No	ClinGen TOPMed
rs1291228442 CA400469397	5	A>E		No	ClinGen gnomAD
CA8689020 rs781121351	5	A>T		No	ClinGen ExAC TOPMed gnomAD
CA292237393 rs1031446573	6	L>R		No	ClinGen TOPMed
CA292237400 rs1057976	7	A>T		No	ClinGen TOPMed
CA400469408 rs1458507909	7	A>V		No	ClinGen gnomAD
CA400469411 rs1246452882	8	A>P		No	ClinGen gnomAD
CA400469409 rs1246452882	8	A>S		No	ClinGen gnomAD
CA400469410 rs1246452882	8	A>T		No	ClinGen gnomAD
rs748026437 CA400469418	9	S>I		No	ClinGen ExAC TOPMed gnomAD
rs756092997 CA8689022	9	S>R		No	ClinGen ExAC gnomAD
rs748026437 CA8689021	9	S>T		No	ClinGen ExAC TOPMed gnomAD
CA8689023 rs777818572	10	A>S		No	ClinGen ExAC gnomAD
CA400469430 rs1374132531	11	M>T		No	ClinGen TOPMed
rs1308114018 CA400469437	12	A>S		No	ClinGen TOPMed
rs748704480 CA8689025	12	A>V		No	ClinGen ExAC TOPMed gnomAD
rs770476950 CA8689026	13	Y>H		No	ClinGen ExAC gnomAD
CA400469449 rs1374843347	14	H>Y		No	ClinGen TOPMed
rs1406967777 CA400469483	18	A>E		No	ClinGen gnomAD
rs1406967777 CA400469486	18	A>V		No	ClinGen gnomAD
rs1410117068 CA400469515	21	P>T		No	ClinGen TOPMed gnomAD
CA8689029 rs771778245	22	A>S		No	ClinGen ExAC gnomAD
rs1379875556 CA400469604	26	M>K		No	ClinGen TOPMed
CA8689030 rs775800585	27	S>C		No	ClinGen ExAC TOPMed gnomAD
rs768992923 CA8689032	31	A>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA400469707 rs1421160065	32	A>V		No	ClinGen TOPMed
CA400469798 rs1249893998	38	F>L		No	ClinGen gnomAD
CA8689036 rs765373613	39	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA400469820 rs1482817952	39	P>S		No	ClinGen gnomAD
rs1473765583 CA400469836	40	A>S		No	ClinGen gnomAD
rs763267863 CA8689038	42	A>T		No	ClinGen ExAC gnomAD
rs766751812 CA8689039	42	A>V		No	ClinGen ExAC gnomAD
rs1390426411 CA400469875	44	P>Q		No	ClinGen TOPMed gnomAD
CA8689041 rs755997921	46	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1341715116 CA400469885	46	G>R		No	ClinGen gnomAD
CA400469884 rs1341715116	46	G>S		No	ClinGen gnomAD
CA8689043 rs753823876	47	A>E		No	ClinGen ExAC gnomAD
CA8689044 rs757195340	51	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA400469913 rs1310182116	51	P>T		No	ClinGen gnomAD
rs1455538072 CA400469921	52	L>P		No	ClinGen TOPMed
CA400469927 rs1258424491	53	P>R		No	ClinGen gnomAD
rs1048308922 CA292237589	55	P>L		No	ClinGen TOPMed
CA400469940 rs1048308922	55	P>Q		No	ClinGen TOPMed
CA400469938 rs1433871216	55	P>S		No	ClinGen TOPMed
rs867023713 CA292237594	59	G>E		No	ClinGen gnomAD
CA400469976 rs1221726143	62	A>T		No	ClinGen TOPMed gnomAD
CA400469981 rs1323583331	62	A>V		No	ClinGen TOPMed
CA400469987 rs1470451562	63	A>E		No	ClinGen TOPMed
CA400469984 rs901242277	63	A>S		No	ClinGen TOPMed gnomAD
CA292237599 rs901242277	63	A>T		No	ClinGen TOPMed gnomAD
rs1168700579 CA400469993	64	A>V		No	ClinGen TOPMed
CA292237629 rs564411433	67	A>G		No	ClinGen 1000Genomes
CA400470019 rs1186036074	69	A>S		No	ClinGen TOPMed gnomAD
CA400470017 rs1186036074	69	A>T		No	ClinGen TOPMed gnomAD
rs533394938 CA8689047	69	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1461212074 CA400470029	71	A>T		No	ClinGen gnomAD
rs1022494087 CA292237651	72	E>A		No	ClinGen TOPMed gnomAD
rs1416287154 CA400470034	72	E>K		No	ClinGen gnomAD
CA400470043 rs1264457431	73	A>E		No	ClinGen TOPMed
CA8689048 rs771690050	73	A>P		No	ClinGen ExAC gnomAD
rs779701751 CA8689049	74	G>E		No	ClinGen ExAC TOPMed gnomAD
CA400470062 rs549885020 CA8689050	76	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1569014277 CA400470063	77	V>I		No	ClinGen Ensembl
rs1295913604 CA400470074	78	S>L		No	ClinGen gnomAD
rs762368697 CA8689053	82	P>L		No	ClinGen ExAC TOPMed gnomAD
rs762368697 CA400470095	82	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs370025489 CA292237701	83	H>P		No	ClinGen ESP gnomAD
rs1417724940 CA400470101	83	H>Q		No	ClinGen TOPMed gnomAD
CA292237709 rs370025489	83	H>R		No	ClinGen ESP gnomAD
TCGA novel	84	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8689055 rs373741482	84	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1210493837 CA400470113	85	P>R		No	ClinGen TOPMed gnomAD
rs766662154 CA8689057	86	A>V		No	ClinGen ExAC gnomAD
rs1360887442 CA400470135	89	L>Q		No	ClinGen TOPMed gnomAD
CA400470134 rs1397786159	89	L>V		No	ClinGen TOPMed
rs1199218826 CA400470140	90	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA400470143 rs1379017045	90	R>P		No	ClinGen TOPMed gnomAD
CA400470138 rs1199218826	90	R>S		No	ClinGen gnomAD
rs960923591 CA292237726	92	L>F		No	ClinGen TOPMed gnomAD
CA292237725 rs960923591	92	L>V		No	ClinGen TOPMed gnomAD
rs918353769 CA292237729	94	S>N		No	ClinGen TOPMed
rs951021132 CA292237750	97	P>A		No	ClinGen TOPMed
rs1319126868 CA400470196	99	D>H		No	ClinGen gnomAD
rs1319126868 CA400470195	99	D>N		No	ClinGen gnomAD
TCGA novel	100	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400470223 rs1303802329	102	E>D		No	ClinGen gnomAD
rs1387725570 CA400470217	102	E>K		No	ClinGen gnomAD
rs1329600365 CA400470235	104	D>Y		No	ClinGen gnomAD
CA400470243 rs1264566568	105	P>S		No	ClinGen TOPMed
rs1331302385 CA400470251	106	K>R		No	ClinGen gnomAD
rs753638712 CA8689061	108	T>M		No	ClinGen ExAC gnomAD
rs1603240599 CA400470306	111	A>D		No	ClinGen Ensembl
TCGA novel	112	K>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749885279 CA8689064	112	K>N		No	ClinGen ExAC gnomAD
rs778763621 CA8689063	112	K>R		No	ClinGen ExAC gnomAD
rs746678515 CA8689067	116	D>N		No	ClinGen ExAC TOPMed gnomAD
rs746678515 CA400470372	116	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1156245231 CA400470388	117	Q>*		No	ClinGen gnomAD
TCGA novel	122	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8689072 rs371215240	126	V>I		No	ClinGen ESP ExAC gnomAD
CA8689073 rs749342198	127	I>T		No	ClinGen ExAC gnomAD
CA400470538 rs1404632537	127	I>V		No	ClinGen gnomAD
rs1352483701 CA400470580	130	S>T		No	ClinGen gnomAD
rs1226661043 CA400470592	131	G>R		No	ClinGen gnomAD
CA400471246 rs1215572992	134	M>I		No	ClinGen TOPMed
rs1359893522 CA400471239	134	M>L		No	ClinGen gnomAD
TCGA novel	135	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8689092 rs778364019	137	P>A		No	ClinGen ExAC TOPMed gnomAD
CA400471262 rs771628572	137	P>H		No	ClinGen ExAC TOPMed gnomAD
rs771628572 CA8689094	137	P>L		No	ClinGen ExAC TOPMed gnomAD
rs771628572 CA8689095	137	P>R		No	ClinGen ExAC TOPMed gnomAD
rs778364019 CA292238545	137	P>S		No	ClinGen ExAC TOPMed gnomAD
CA8689093 rs778364019	137	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1450119103 CA400471271	139	K>Q		No	ClinGen TOPMed
rs772288115 CA8689097	139	K>R		No	ClinGen ExAC TOPMed gnomAD
CA8689098 rs772288115	139	K>T		No	ClinGen ExAC TOPMed gnomAD
rs761600564 CA8689099	141	R>Q		No	ClinGen ExAC gnomAD
rs139125476 CA292238578	142	V>L		No	ClinGen ESP TOPMed gnomAD
rs147490001 CA400471298 CA400471299	143	S>R		No	ClinGen ESP TOPMed gnomAD
CA292238594 rs1047408346	144	G>D		No	ClinGen Ensembl
CA400471300 rs1183731294	144	G>S		No	ClinGen TOPMed
CA292238599 rs907757387	146	D>N		No	ClinGen Ensembl
CA8689102 rs148128428	148	K>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8689103 rs766344994	149	A>V		No	ClinGen ExAC gnomAD
CA292238616 rs200545971	151	Y>C		No	ClinGen ESP TOPMed gnomAD
rs369378137 CA292238619	152	I>F		No	ClinGen ESP TOPMed gnomAD
CA8689104 rs751063145	152	I>N		No	ClinGen ExAC TOPMed gnomAD
CA292238627 rs751063145	152	I>S		No	ClinGen ExAC TOPMed gnomAD
rs1347873514 CA400471409	155	M>I		No	ClinGen gnomAD
rs141951250 CA8689106	155	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA8689105 rs754473056	155	M>V		No	ClinGen ExAC gnomAD
rs1358368341 CA400471416	156	D>N		No	ClinGen TOPMed
CA8689107 rs752299385	157	I>M		No	ClinGen ExAC gnomAD
rs1229581007 CA400471482	160	A>T		No	ClinGen TOPMed
rs1321130948 CA400471511	161	D>E		No	ClinGen TOPMed gnomAD
TCGA novel	161	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1710576 CA400471516 rs1346822633	162	D>N	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
CA292238665 rs1034013843	163	C>Y		No	ClinGen TOPMed
TCGA novel	164	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1217985899 CA400471649	169	N>S		No	ClinGen TOPMed gnomAD
rs778275904 CA400471678	171	R>H		No	ClinGen ExAC TOPMed gnomAD
rs778275904 CA8689110	171	R>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	176	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8689111 rs754291720	176	G>D		No	ClinGen ExAC gnomAD
rs1025055045 CA292238683	177	K>N		No	ClinGen TOPMed
CA292238684 rs950886535	178	A>S		No	ClinGen TOPMed
CA400471810 rs1603240882	179	D>A		No	ClinGen Ensembl
CA400471827 rs1445727717	180	P>R		No	ClinGen gnomAD
CA8689113 rs779585007	183	P>S		No	ClinGen ExAC gnomAD
CA400471898 rs1417358712	184	K>R		No	ClinGen TOPMed
CA8689114 rs745919438	185	R>C		No	ClinGen ExAC gnomAD
CA8689115 rs201793266	185	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA292238694 rs201793266	185	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8689116 rs201793266	185	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1204050449 COSM1679985 CA400471913	186	M>V	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1603240886 CA400471932	188	I>T		No	ClinGen Ensembl
rs747185970 CA8689117	188	I>V		No	ClinGen ExAC gnomAD
CA400471938 rs1603240887	189	H>P		No	ClinGen Ensembl
rs573739161 CA400471942	189	H>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs200343691 CA292238697	190	P>S		No	ClinGen Ensembl
rs1473859474 CA400471950	191	D>H		No	ClinGen TOPMed
CA400471961 rs1161395863	192	S>I		No	ClinGen gnomAD
CA400471960 rs1161395863	192	S>T		No	ClinGen gnomAD
rs374991370 CA8689120	194	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs772959812 CA8689119	194	A>T		No	ClinGen ExAC gnomAD
rs770811220 CA8689121	195	T>M		No	ClinGen ExAC gnomAD
TCGA novel	197	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA292238721 rs76487118	197	E>G		No	ClinGen Ensembl
CA400471986 rs1406453476	197	E>Q		No	ClinGen TOPMed gnomAD
TCGA novel	197	E>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400471996 rs1300900305	198	Q>R		No	ClinGen gnomAD
rs1409927318 CA400472013	200	M>T		No	ClinGen gnomAD
CA8689123 rs759023058	201	A>T		No	ClinGen ExAC gnomAD
CA400472033 rs1349209832	203	P>S		No	ClinGen TOPMed gnomAD
CA400472041 rs1291107880	204	V>A		No	ClinGen gnomAD
CA8689125 rs752316214	206	F>Y		No	ClinGen ExAC gnomAD
rs760368587 CA400472068	208	K>M		No	ClinGen ExAC TOPMed gnomAD
rs760368587 CA8689126	208	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA400472113 rs1231220422	215	I>V		No	ClinGen gnomAD
CA400472129 rs1453660758	217	D>E		No	ClinGen TOPMed gnomAD
rs757727651 CA8689129	217	D>Y		No	ClinGen ExAC gnomAD
rs1404152384 CA400472144	219	H>L		No	ClinGen TOPMed
CA8689131 rs779408815	219	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs759002822 CA8689132	220	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1314467762 CA400472176	222	T>S		No	ClinGen Ensembl
rs773427151 CA8689167	223	I>V		No	ClinGen ExAC gnomAD
rs763398451 CA8689168	224	L>V		No	ClinGen ExAC gnomAD
CA400472213 rs1274588227	228	H>Y		No	ClinGen TOPMed
CA400472230 rs1603241161	230	Y>S		No	ClinGen Ensembl
rs1355609945 CA400472243	232	P>T		No	ClinGen TOPMed
CA8689171 rs754996717	233	R>L		No	ClinGen ExAC gnomAD
rs1336648384 CA400472274	236	I>T		No	ClinGen TOPMed gnomAD
rs1468757353 CA400472272	236	I>V		No	ClinGen gnomAD
CA8689172 rs767574262	237	V>L		No	ClinGen ExAC TOPMed gnomAD
CA400472286 rs1316618064	238	R>Q		No	ClinGen gnomAD
CA400472298 rs1410671793	240	N>I		No	ClinGen TOPMed
rs970533000 CA292239653	240	N>K		No	ClinGen TOPMed gnomAD
rs867809099 CA292239667	241	D>E		No	ClinGen Ensembl
CA400472302 rs1234208260	241	D>H		No	ClinGen TOPMed gnomAD
rs1167768748 CA400472349	248	S>N		No	ClinGen TOPMed
CA8689175 rs778075071	249	T>I		No	ClinGen ExAC TOPMed gnomAD
CA400472354 rs756265719	249	T>P		No	ClinGen ExAC TOPMed gnomAD
CA8689174 rs756265719	249	T>S		No	ClinGen ExAC TOPMed gnomAD
CA8689176 rs374486125	251	R>H		No	ClinGen ESP ExAC gnomAD
rs1206700661 CA400472376	252	T>N		No	ClinGen gnomAD
CA8689178 rs201360135 CA8689179	254	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA292239684 rs201360135	254	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1479173796 CA400472400	256	P>L		No	ClinGen gnomAD
CA292239689 rs957229121	256	P>S		No	ClinGen TOPMed
rs768782504 CA8689180	258	T>I		No	ClinGen ExAC TOPMed gnomAD
CA8689182 rs747744056	259	D>E		No	ClinGen ExAC gnomAD
CA8689181 rs776252332	259	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1224520699 CA400472445	263	V>G		No	ClinGen TOPMed
CA292239716 rs765488721	266	Y>*		No	ClinGen Ensembl
rs1292036296 CA400472467	267	Q>E		No	ClinGen TOPMed
rs1289019954 CA400472491	270	K>E		No	ClinGen gnomAD
CA8689185 rs763165207	270	K>N		No	ClinGen ExAC gnomAD
rs373803011 CA292240641	274	L>M		No	ClinGen ESP TOPMed gnomAD
rs1380302085 CA400472692	278	N>Y		No	ClinGen gnomAD
rs762064809 CA8689212	280	P>Q		No	ClinGen ExAC gnomAD
rs754853668 CA8689215	288	T>S		No	ClinGen ExAC gnomAD
rs781211904 CA8689216	289	G>R		No	ClinGen ExAC TOPMed gnomAD
rs756068959 CA8689218	293	R>W		No	ClinGen ExAC TOPMed gnomAD
rs748794461 CA8689220	294	E>Q		No	ClinGen ExAC gnomAD
TCGA novel	296	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1603241432 CA400473010	298	Q>R		No	ClinGen Ensembl
rs769157834 CA400473033	300	T>K		No	ClinGen ExAC TOPMed gnomAD
CA8689245 rs769157834	300	T>M	Variant assessed as Somatic; 0.0004054 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA400473035 rs769157834	300	T>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	301	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1490890241 CA400473056	302	P>L		No	ClinGen TOPMed gnomAD
rs1490890241 CA400473052	302	P>Q		No	ClinGen TOPMed gnomAD
CA400473046 rs1292808774	302	P>T		No	ClinGen gnomAD
CA8689248 rs146171999	304	L>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200245762 CA8689246	304	L>V		No	ClinGen ExAC TOPMed gnomAD
rs201407399 CA8689249	305	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8689251 rs766552926	308	E>Q		No	ClinGen ExAC gnomAD
rs1426131745 CA400473141	311	C>R		No	ClinGen gnomAD
rs1569016134 CA400473154	312	K>N		No	ClinGen Ensembl
rs760414139 CA8689253	314	E>K		No	ClinGen ExAC gnomAD
CA8689254 rs764022876	315	R>G		No	ClinGen ExAC gnomAD
rs1300270436 CA400473180	316	D>E		No	ClinGen TOPMed
rs753784724 CA8689255	316	D>N		No	ClinGen ExAC gnomAD
CA8689256 rs376284632	318	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA400473187 rs1292917610	318	A>T	Variant assessed as Somatic; 5.384e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA400473190 rs376284632	318	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8689258 rs749975428	321	D>N		No	ClinGen ExAC gnomAD
rs1164565625 CA400473215	322	A>S		No	ClinGen gnomAD
rs139114561 CA292240881	322	A>V		No	ClinGen ESP
CA400473222 rs1438473592	323	S>W		No	ClinGen gnomAD
rs371433791 CA292240888	324	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs371433791 CA8689260	324	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1603241462 CA400473238	326	D>A		No	ClinGen Ensembl
rs779596450 CA8689261	326	D>Y		No	ClinGen ExAC
rs1468503229 CA400473248	327	P>L		No	ClinGen TOPMed gnomAD
CA8689263 rs755304221	328	P>L		No	ClinGen ExAC TOPMed gnomAD
rs747359210 CA8689262	328	P>S		No	ClinGen ExAC TOPMed gnomAD
CA292240898 rs747359210	328	P>T		No	ClinGen ExAC TOPMed gnomAD
rs866923288 CA400473253	329	P>A		No	ClinGen TOPMed gnomAD
RCV000955217 rs182290035 CA8689264	329	P>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs182290035 CA400473254	329	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs866923288 CA292240912	329	P>S		No	ClinGen TOPMed gnomAD
TCGA novel	330	A>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8689265 rs113676723	330	A>S		No	ClinGen ExAC TOPMed gnomAD
rs770492149 CA8689266	331	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA400473278 rs1385424993	333	P>L		No	ClinGen gnomAD
rs1316239426 CA400473273	333	P>T		No	ClinGen TOPMed gnomAD
rs1603241472 CA400473285	335	T>P		No	ClinGen Ensembl
rs1216439787 CA400473299	337	P>S		No	ClinGen gnomAD
CA400473306 rs1197921404	338	G>D		No	ClinGen gnomAD
rs1456426459 CA400473303	338	G>S		No	ClinGen gnomAD
rs1181469768 CA400473312	339	A>E		No	ClinGen gnomAD
rs1462495530 CA400473311	339	A>S		No	ClinGen gnomAD
rs1462495530 CA400473309	339	A>T		No	ClinGen gnomAD
CA8689272 rs768320221	343	P>L		No	ClinGen ExAC TOPMed gnomAD
rs370843795 CA8689273	345	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs370843795 CA292240960	345	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA400473357 rs1465619424	347	H>P		No	ClinGen gnomAD
CA400473360 rs1328769835	347	H>Q		No	ClinGen TOPMed
rs934306736 CA292240964	348	R>G		No	ClinGen TOPMed gnomAD
CA400473364 rs1408871032	348	R>P		No	ClinGen TOPMed gnomAD
CA400473363 rs1408871032	348	R>Q		No	ClinGen TOPMed gnomAD
CA292240965 rs943459389	349	A>D		No	ClinGen gnomAD
CA400473368 rs1569016265	349	A>S		No	ClinGen Ensembl
CA8689275 rs569358507	350	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA400473372 rs1327292367	350	R>Q		No	ClinGen TOPMed gnomAD
rs1433129297 CA400473375	351	A>T		No	ClinGen TOPMed gnomAD
rs1200860470 CA400473414	354	K>E		No	ClinGen TOPMed
CA400473424 rs1277037820	355	S>*		No	ClinGen TOPMed gnomAD
rs1277037820 CA400473426	355	S>L		No	ClinGen TOPMed gnomAD
CA400473421 rs1333167168	355	S>T		No	ClinGen TOPMed
CA292241222 rs535294444	356	C>R		No	ClinGen gnomAD
TCGA novel	357	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA292241228 rs1006930529	360	S>N		No	ClinGen TOPMed
CA400473461 rs1269676383	361	D>N		No	ClinGen TOPMed gnomAD
CA400473462 rs1269676383	361	D>Y		No	ClinGen TOPMed gnomAD
rs1192851196 CA400473482	363	E>D		No	ClinGen gnomAD
rs1603241575 CA400473484	364	P>A		No	ClinGen Ensembl
rs1422904411 CA400473488	364	P>L		No	ClinGen gnomAD
rs1362107893 CA400473493	365	E>G		No	ClinGen TOPMed gnomAD
rs749180743 CA8689322	365	E>K		No	ClinGen ExAC TOPMed gnomAD
COSM1303144 CA400473489 rs749180743	365	E>Q	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1297108502 CA400473498	366	R>Q		No	ClinGen gnomAD
rs770945114 CA8689323	368	S>I		No	ClinGen ExAC gnomAD
TCGA novel	368	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400473515 rs1273598196	369	E>K		No	ClinGen TOPMed gnomAD
CA400473516 rs1273598196	369	E>Q		No	ClinGen TOPMed gnomAD
rs773715475 CA8689324	371	R>C		No	ClinGen ExAC TOPMed gnomAD
CA8689325 rs759112967	371	R>H		No	ClinGen ExAC gnomAD
CA400473534 rs759112967	371	R>P		No	ClinGen ExAC gnomAD
rs1162880145 CA400473541	372	A>E		No	ClinGen TOPMed
CA400473539 rs1162880145	372	A>V		No	ClinGen TOPMed
rs767208687 CA400473545	373	G>A		No	ClinGen ExAC gnomAD
rs767208687 CA8689326	373	G>E		No	ClinGen ExAC gnomAD
CA400473542 rs1351851521	373	G>R		No	ClinGen gnomAD
rs775291426 CA8689327	374	A>T		No	ClinGen ExAC gnomAD
rs1490863515 CA400473557	375	P>L		No	ClinGen gnomAD
TCGA novel	375	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754268053 CA8689330	378	R>H		No	ClinGen ExAC gnomAD
rs1177617905 CA400473580	379	S>R		No	ClinGen gnomAD
CA400473583 rs1381926323	380	P>A		No	ClinGen gnomAD
CA8689332 rs765795326	380	P>L		No	ClinGen ExAC TOPMed gnomAD
CA400473585 rs765795326	380	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs765795326 CA292241292	380	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1385413906 CA400473587	381	A>P		No	ClinGen gnomAD
rs750429318 CA8689333	381	A>V		No	ClinGen ExAC TOPMed gnomAD
CA400473601 rs1320972167	383	D>G		No	ClinGen gnomAD
CA292241302 rs911157542	384	S>N		No	ClinGen Ensembl
CA400473610 rs1443542556	384	S>R		No	ClinGen TOPMed gnomAD
rs1349852273 CA400473607	384	S>R		No	ClinGen gnomAD
CA8689334 rs758477912	385	A>S		No	ClinGen ExAC gnomAD
rs758477912 CA400473613	385	A>T		No	ClinGen ExAC gnomAD
rs1375148456 CA400473618	386	S>G		No	ClinGen gnomAD
CA400473630 rs1603241604	387	P>L		No	ClinGen Ensembl
CA400473632 rs1603241606	388	T>A		No	ClinGen Ensembl
rs1316021986 CA400473638	389	R>C		No	ClinGen gnomAD
rs1358687419 CA400473640	389	R>H		No	ClinGen gnomAD
rs1358687419 CA400473642	389	R>L		No	ClinGen gnomAD
rs1316021986 CA400473637	389	R>S		No	ClinGen gnomAD
rs1196379865 CA400473654	391	T>I		No	ClinGen TOPMed gnomAD
rs1196379865 CA400473653	391	T>N		No	ClinGen TOPMed gnomAD
rs1352333884 CA400473677	393	P>H		No	ClinGen TOPMed
CA400473680 rs1352333884	393	P>L		No	ClinGen TOPMed
rs1451026995 CA400473666	393	P>S		No	ClinGen TOPMed gnomAD
CA400473689 rs1239861226	394	E>G		No	ClinGen gnomAD
TCGA novel	395	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1456287464 CA400473701	396	A>S		No	ClinGen gnomAD
rs1177730387 CA400473705	396	A>V		No	ClinGen gnomAD
rs1473559483 CA400473708	397	R>G		No	ClinGen gnomAD
rs1161004743 CA400473713	397	R>P		No	ClinGen gnomAD
rs914362509 CA292241342	400	R>C		No	ClinGen TOPMed gnomAD
rs1173468711 CA400473749	400	R>H		No	ClinGen gnomAD
CA292241341 rs914362509	400	R>S		No	ClinGen TOPMed gnomAD
rs1398672049 CA400473760	401	S>C		No	ClinGen gnomAD
CA400473805 rs1446547578	404	R>G		No	ClinGen gnomAD
rs140610908 CA400473816 COSM4130465	404	R>S	thyroid [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs745310839 CA8689342	406	K>E		No	ClinGen ExAC gnomAD
CA400473849 rs1283743763	407	E>K		No	ClinGen gnomAD
CA400473860 rs1340160900	407	E>V		No	ClinGen gnomAD
rs1220486832 CA400473876	408	P>L		No	ClinGen gnomAD
CA8689344 rs775203048	409	A>T		No	ClinGen ExAC gnomAD
rs1197824727 CA400473889	409	A>V		No	ClinGen gnomAD
CA8689346 rs760370525	410	E>K		No	ClinGen ExAC gnomAD
rs760370525 CA8689345	410	E>Q		No	ClinGen ExAC gnomAD
rs776810510 CA8689347	411	S>G		No	ClinGen ExAC TOPMed gnomAD
CA8689348 rs762268506	412	G>C		No	ClinGen ExAC gnomAD
rs200287309 CA8689349	412	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1475466397 CA400473921	413	G>W		No	ClinGen TOPMed gnomAD
CA292241372 rs918388666	414	D>E		No	ClinGen TOPMed gnomAD
rs1195162033 CA400473941	414	D>G		No	ClinGen gnomAD
CA400473948 rs1487669720	415	G>R		No	ClinGen TOPMed
CA8689350 rs750954217	416	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1177673569 CA400473986	418	G>S		No	ClinGen TOPMed gnomAD
rs1404797816 CA400474007	420	R>K		No	ClinGen gnomAD
rs766443447 CA400474023	421	S>I		No	ClinGen ExAC TOPMed gnomAD
rs766443447 CA8689352	421	S>N		No	ClinGen ExAC TOPMed gnomAD
CA400474065 rs1327195802	425	E>G		No	ClinGen gnomAD
CA292241387 rs1057235100	425	E>Q		No	ClinGen Ensembl
CA400474075 rs1401962009	426	R>S		No	ClinGen gnomAD
rs1338406966 CA400474088	427	A>G		No	ClinGen TOPMed gnomAD
rs1057986 CA292241391	427	A>P		No	ClinGen TOPMed
rs1057986 CA400474082	427	A>T		No	ClinGen TOPMed
rs1338406966 CA400474090	427	A>V		No	ClinGen TOPMed gnomAD
rs755172964 CA8689354	428	E>G		No	ClinGen ExAC gnomAD
rs568419315 CA292241400	429	A>S		No	ClinGen 1000Genomes gnomAD
rs1388447996 CA400474141	433	D>E		No	ClinGen gnomAD
rs1277509249 CA400474155	434	E>D		No	ClinGen gnomAD
rs1218225060 CA400474164	435	G>E		No	ClinGen TOPMed gnomAD
CA8689355 rs781502221	435	G>R		No	ClinGen ExAC gnomAD
CA400474172 COSM1228681 rs1603241644	436	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
rs753540297 CA8689356	436	R>L		No	ClinGen ExAC TOPMed
rs1260389628 CA400474212	439	A>T		No	ClinGen gnomAD
TCGA novel	440	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400474238 rs1379822721	441	E>K		No	ClinGen TOPMed gnomAD
CA8689359 rs371850274	442	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA400474279 rs1477316009	444	E>K		No	ClinGen TOPMed
rs772174118 CA8689360	445	Q>R		No	ClinGen ExAC
CA8689361 rs779687743	446	G>D		No	ClinGen ExAC gnomAD
rs1386004099 CA400474307	446	G>S		No	ClinGen gnomAD
CA292241431 rs776350683	448	A>E		No	ClinGen ExAC gnomAD
rs776350683 CA8689364	448	A>G		No	ClinGen ExAC gnomAD
CA8689363 rs768152749	448	A>T		No	ClinGen ExAC gnomAD
rs776350683 CA400474337	448	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1230845044 CA400474359	451	V>M		No	ClinGen gnomAD
CA292241445 rs1025371566	452	V>M		No	ClinGen Ensembl
CA292241447 rs952398664	457	A>T		No	ClinGen TOPMed gnomAD
CA400474441 rs1241863002	457	A>V		No	ClinGen TOPMed gnomAD
rs762026215 CA8689365	458	S>F		No	ClinGen ExAC gnomAD
CA400474454 rs770182659	459	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1249443087 CA400474461	459	P>L		No	ClinGen TOPMed
CA8689366 rs770182659	459	P>T		No	ClinGen ExAC TOPMed gnomAD
CA8689369 rs763421585	460	L>P		No	ClinGen ExAC gnomAD
rs763421585 CA8689368	460	L>R		No	ClinGen ExAC gnomAD
TCGA novel	460	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	460	L>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400474816 rs1450366449	461	G>A		No	ClinGen gnomAD
CA400474815 rs1450366449	461	G>D		No	ClinGen gnomAD
CA400474825 rs1381303968 CA400474826	463	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1412936148 CA400474830	464	H>N		No	ClinGen TOPMed
CA400474833 rs1441851413	464	H>P		No	ClinGen gnomAD
rs1425412705 CA400474846	466	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs767573539 CA292248630	467	G>C		No	ClinGen ExAC TOPMed gnomAD
rs866915098 CA292248634	467	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs767573539 CA8689372	467	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1335432124 CA400474852	468	L>M		No	ClinGen TOPMed
CA400474855 rs1322724409	468	L>P		No	ClinGen TOPMed gnomAD
TCGA novel	469	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8689373 rs144548309	471	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1377366453 CA400474872	471	S>P		No	ClinGen gnomAD
CA400474889 rs1306662106	473	H>R		No	ClinGen gnomAD
rs1352475758 CA400474904	475	H>P		No	ClinGen gnomAD
rs1266677991 CA400474907	476	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1239256156 CA400474953	482	P>S		No	ClinGen gnomAD
CA400474968 rs1172382800	485	A>T		No	ClinGen TOPMed
CA292248646 rs201229574	486	G>A		No	ClinGen ExAC gnomAD
CA8689376 rs201229574	486	G>D		No	ClinGen ExAC gnomAD
CA400474974 rs1177112706	486	G>S		No	ClinGen gnomAD
rs1569016903 CA400475031	495	Q>K		No	ClinGen Ensembl
rs1400883677 CA400475052	497	T>I		No	ClinGen gnomAD
CA8689380 rs375741598	498	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8689381 rs780625185	499	G>D		No	ClinGen ExAC gnomAD
TCGA novel	500	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1162684137 CA400475077	501	G>V		No	ClinGen TOPMed gnomAD
TCGA novel	502	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA292248668 rs988878641	504	S>C		No	ClinGen TOPMed
rs773546502 CA8689384	506	M>I		No	ClinGen ExAC gnomAD
rs1243368065 CA400475106	506	M>T		No	ClinGen gnomAD
CA292248672 rs568617957	506	M>V		No	ClinGen 1000Genomes gnomAD
rs1284897259 CA400475128	509	G>D		No	ClinGen TOPMed
rs1011114587 CA292248679	510	H>Q		No	ClinGen TOPMed gnomAD
CA8689386 rs771391654	513	A>G		No	ClinGen ExAC gnomAD
CA400475148 rs1184100899	513	A>T		No	ClinGen TOPMed
rs1447900446 CA400475158	514	S>W		No	ClinGen TOPMed
rs537498833 CA8689387	517	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs537498833 CA292248685	517	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA292248691 rs947384542	518	G>S		No	ClinGen gnomAD
rs1254269281 CA400475194	521	G>S		No	ClinGen gnomAD
rs1163279475 CA400475209	523	G>D		No	ClinGen TOPMed
CA292248703 rs1043451901	527	G>R		No	ClinGen TOPMed gnomAD
rs1467101516 CA400475234	527	G>V		No	ClinGen gnomAD
TCGA novel	530	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8689390 rs752757013	531	G>E		No	ClinGen ExAC TOPMed gnomAD
CA400475264 rs1466303780	533	D>H		No	ClinGen TOPMed gnomAD
CA400475263 rs1466303780	533	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA292248717 rs968525927	535	G>D		No	ClinGen TOPMed
CA8689391 rs760926920	536	G>R		No	ClinGen ExAC TOPMed gnomAD
CA292248723 rs895969804	538	G>R		No	ClinGen Ensembl
rs930172066 CA292248726	539	P>L		No	ClinGen Ensembl
CA292248729 rs1033976103	540	A>T		No	ClinGen TOPMed
CA400475309 rs1436231841	541	A>S		No	ClinGen TOPMed
rs1413672914 CA400475323	543	A>S		No	ClinGen TOPMed gnomAD
rs1413672914 CA400475321	543	A>T		No	ClinGen TOPMed gnomAD
CA400475326 rs1323810054	543	A>V		No	ClinGen TOPMed
CA292248733 rs867234761	547	A>S		No	ClinGen Ensembl
rs1046780799 CA292248736	548	A>V		No	ClinGen Ensembl
rs867446896 CA292248741	553	H>N		No	ClinGen Ensembl
CA8689394 rs758271503	554	L>F		No	ClinGen ExAC TOPMed gnomAD
CA400475461 rs1217331636	557	H>N		No	ClinGen gnomAD
CA8689396 rs751530121	559	L>P		No	ClinGen ExAC gnomAD
CA8689395 rs766360652	559	L>V		No	ClinGen ExAC gnomAD
CA292248753 rs866263411	560	A>S		No	ClinGen Ensembl
CA400475524 rs1157951417	562	Q>K		No	ClinGen TOPMed
rs144017258 CA8689411	565	P>A		No	ClinGen ESP ExAC gnomAD
rs1288349046 CA400476367	566	M>I		No	ClinGen gnomAD
CA8689412 rs766245891	566	M>T		No	ClinGen ExAC TOPMed gnomAD
CA400476355 rs1311891914	566	M>V		No	ClinGen TOPMed gnomAD
CA400476381 rs1487359387	567	P>L		No	ClinGen gnomAD
rs1569017891 CA400476375	567	P>S		No	ClinGen Ensembl
CA400476389 rs1215930410	568	T>S		No	ClinGen gnomAD
CA8689413 rs751465106	569	F>S		No	ClinGen ExAC TOPMed gnomAD
rs767367190 CA8689415	570	G>R		No	ClinGen ExAC gnomAD
rs149083072 CA8689416 RCV000955527	571	G>A		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	572	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400476452 rs1569017912	573	F>C		No	ClinGen Ensembl
rs777352687 CA8689418	574	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1603242023 CA400476474	575	Y>S		No	ClinGen Ensembl
CA8689419 rs372888108	576	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs372888108 CA292249536	576	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA400476507 rs1603242026	578	T>P		No	ClinGen Ensembl
CA400476514 rs1460550911	578	T>S		No	ClinGen TOPMed
rs142190838 CA8689421	579	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA8689423 rs772565749	580	M>K		No	ClinGen ExAC gnomAD
rs746235173 CA8689422	580	M>V		No	ClinGen ExAC gnomAD
TCGA novel	583	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA292249556 rs973646457	584	A>T		No	ClinGen gnomAD
COSM706580 CA8689427 rs768834035	584	A>V	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs762120940 CA8689429	585	A>T		No	ClinGen ExAC gnomAD
rs1467885619 CA400476587	587	A>G		No	ClinGen gnomAD
CA8689431 rs774135961	587	A>T		No	ClinGen ExAC gnomAD
TCGA novel	587	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA292249574 rs1049878712	588	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs760711917 CA8689435	592	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1304865429 CA400476618	593	T>P		No	ClinGen TOPMed
CA8689437 rs753406923	594	S>G		No	ClinGen ExAC TOPMed gnomAD
CA8689438 rs756848247	594	S>N		No	ClinGen ExAC gnomAD
CA8689441 rs750762087	596	A>V		No	ClinGen ExAC
rs758713361 CA8689442	597	A>D		No	ClinGen ExAC gnomAD
CA400476644 rs758713361	597	A>V		No	ClinGen ExAC gnomAD
CA8689444 rs780517343	598	A>G		No	ClinGen ExAC gnomAD
rs1465190537 CA400476645	598	A>T		No	ClinGen gnomAD
CA400476649 rs780517343	598	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8689446 rs769353072	599	A>T		No	ClinGen ExAC gnomAD
rs781407433 CA8689447	599	A>V		No	ClinGen ExAC TOPMed gnomAD
CA8689449 rs556896861	600	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8689452 rs771737837	601	A>T		No	ClinGen ExAC
CA292249637 rs764036287	603	A>S		No	ClinGen ExAC TOPMed gnomAD
CA8689456 rs764036287	603	A>T		No	ClinGen ExAC TOPMed gnomAD
CA292249649 rs147014278	604	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA400476675 rs1435787888	604	G>D		No	ClinGen gnomAD
CA400476674 rs147014278	604	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8689458 rs147014278	604	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA400476688 rs1208240880	606	L>P		No	ClinGen gnomAD
CA400476691 rs1315085057	607	S>P		No	ClinGen TOPMed
CA400476697 rs1473508839	608	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs764896880 CA8689460	608	R>W		No	ClinGen ExAC gnomAD
CA400476700 rs1298755634	609	S>R		No	ClinGen TOPMed
rs1057987 CA292249660	609	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs780277539 CA8689462	610	P>R		No	ClinGen ExAC gnomAD
CA8689464 rs755482630	611	F>S		No	ClinGen ExAC gnomAD
CA400476737 rs1163586259	614	S>R		No	ClinGen TOPMed
CA400476743 rs1211853570	615	A>V		No	ClinGen Ensembl
rs191930922 RCV000916914 CA8689467	616	R>Q		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA8689466 rs748195981	616	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8689468 rs777954444	618	R>Q		No	ClinGen ExAC gnomAD
CA292249705 rs780394333	619	L>V		No	ClinGen TOPMed gnomAD
rs373091690 CA8689470	620	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs775093972 CA8689471	620	R>H		No	ClinGen ExAC gnomAD
rs1279945164 CA400476779	622	S>R		No	ClinGen gnomAD
TCGA novel	625	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8689472 rs760471565	625	Q>R		No	ClinGen ExAC gnomAD
CA8689473 rs768543958	626	I>N		No	ClinGen ExAC gnomAD
rs1278938634 CA400476809	627	P>A		No	ClinGen gnomAD
CA400476812 rs776574836	627	P>L	Variant assessed as Somatic; 0.0001388 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs776574836 CA8689474	627	P>R		No	ClinGen ExAC gnomAD
CA8689476 rs764623072	628	V>D		No	ClinGen ExAC TOPMed gnomAD
CA400476819 rs1477822012	629	T>A		No	ClinGen gnomAD
rs147052385 CA8689477	631	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA8689479 rs766068207	633	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1427588954 CA400476844	633	S>N		No	ClinGen gnomAD
CA8689480 rs751904464	636	L>R		No	ClinGen ExAC gnomAD
rs755423150 CA8689481	639	T>A		No	ClinGen ExAC gnomAD
CA292249757 rs201661096	640	G>E		No	ClinGen Ensembl
CA8689483 rs753230872	640	G>R		No	ClinGen ExAC TOPMed gnomAD
rs756680844 CA8689484	642	A>V		No	ClinGen ExAC TOPMed gnomAD
rs749403783 CA8689486	645	G>C		No	ClinGen ExAC gnomAD
rs377687643 CA8689487	649	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1231627362 CA400477030	650	G>S		No	ClinGen gnomAD
TCGA novel	651	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400477058 rs1279090119	652	N>D		No	ClinGen gnomAD
CA8689488 rs779229096	653	S>R		No	ClinGen ExAC gnomAD
CA8689490 rs746759936	654	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8689492 rs149614309	654	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8689489 rs746759936	654	R>W		No	ClinGen ExAC TOPMed gnomAD
CA8689493 rs769827285	655	E>K		No	ClinGen ExAC gnomAD
CA292249796 rs986503687	656	P>L		No	ClinGen TOPMed gnomAD
rs772538088 CA8689494	656	P>S		No	ClinGen ExAC gnomAD
CA400477151 CA8689495 rs762527982	657	S>R		No	ClinGen ExAC TOPMed gnomAD
rs765906139 CA8689496	658	P>A		No	ClinGen ExAC gnomAD
CA292249806 rs924184903	660	P>L		No	ClinGen TOPMed
rs759307454 CA8689498	661	E>K		No	ClinGen ExAC TOPMed gnomAD
CA400477197 rs759307454	661	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA292249813 rs936913573	663	A>T		No	ClinGen Ensembl
rs767959344 CA8689499	663	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8689500 rs753175622	664	L>I		No	ClinGen ExAC TOPMed gnomAD
CA8689502 rs34493156	665	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs764671010 CA8689503	665	R>H		No	ClinGen ExAC gnomAD
rs1438378054 CA400477269	666	K>E		No	ClinGen gnomAD
rs753824335 CA8689504	667	V>I		No	ClinGen ExAC TOPMed gnomAD
CA400477310 rs1603242108	668	G>A		No	ClinGen Ensembl
TCGA novel	668	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs367963765 CA8689505	669	A>S		No	ClinGen ExAC gnomAD
CA8689506 rs779016245	669	A>V		No	ClinGen ExAC TOPMed gnomAD
rs746060657 CA8689507	671	S>C		No	ClinGen ExAC gnomAD
rs113424512 CA8689508	672	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
COSM3421754 CA8689509 rs780953070	672	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs948234669 CA292249861	673	G>S		No	ClinGen TOPMed gnomAD
CA400477394 rs1441759858	674	A>V		No	ClinGen gnomAD
CA400477405 rs1179825768	675	L>P		No	ClinGen gnomAD
CA400477421 rs1458420643	676	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8689513 COSM3691720 rs61751978	677	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA400477433 rs61751978	677	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs773230802 CA8689512	677	P>S		No	ClinGen ExAC TOPMed gnomAD
CA400477446 rs1324945636	678	S>T		No	ClinGen gnomAD
CA400477465 rs1256188257	680	S>L		No	ClinGen TOPMed gnomAD
CA400477464 rs1256188257	680	S>W		No	ClinGen TOPMed gnomAD
CA400477471 rs1448528595	681	A>V		No	ClinGen gnomAD
rs1206505563 CA400477482	683	E>*		No	ClinGen TOPMed gnomAD
CA400477491 rs1304331917	684	A>E		No	ClinGen TOPMed gnomAD
CA400477492 rs1304331917	684	A>V		No	ClinGen TOPMed gnomAD
rs1334676220 CA400477499	685	A>V		No	ClinGen gnomAD
CA8689515 rs528883638	686	N>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1244821600 CA400477504	686	N>S		No	ClinGen gnomAD
rs1057989 CA292249885	689	Q>L		No	ClinGen Ensembl
CA400477530 rs1259099213	690	S>N		No	ClinGen gnomAD
TCGA novel	693	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1194305286 CA400477562	695	V>M		No	ClinGen TOPMed gnomAD
CA8689517 rs771904517	696	S>N		No	ClinGen ExAC
rs1004517871 CA292249897	697	G>R		No	ClinGen Ensembl
rs1379296399 CA400477606	701	Q>R		No	ClinGen TOPMed
rs1014995360 CA292249899	702	R>G		No	ClinGen TOPMed gnomAD
CA292249906 rs899163658	702	R>Q		No	ClinGen TOPMed gnomAD
rs1419996654 CA400477612	703	A>T		No	ClinGen gnomAD
rs1427020569 CA400477626	705	S>A		No	ClinGen gnomAD
rs775935102 CA8689518	708	R>Q		No	ClinGen ExAC gnomAD
CA400477643 rs1164038671	708	R>W		No	ClinGen TOPMed gnomAD
rs1296116503 CA400477659	710	S>L		No	ClinGen TOPMed gnomAD
rs761134753 CA8689519	712	K>N		No	ClinGen ExAC TOPMed gnomAD
CA292249930 rs373456109	712	K>Q		No	ClinGen Ensembl
rs890619577 CA292249935	713	K>R		No	ClinGen TOPMed

1 associated diseases with Q13207

[MIM: 618223]: Vertebral anomalies and variable endocrine and T-cell dysfunction (VETD)

An autosomal dominant syndrome characterized by skeletal malformations primarily involving the vertebrae, immunodeficiency, endocrine abnormalities such as hypoparathyroidism and growth hormone deficiency, craniofacial dysmorphism, congenital cardiac anomalies consisting of double-outlet right ventricle, pulmonary valve stenosis and atrial septal defect, and developmental impairments. {ECO:0000269|PubMed:29726930}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal dominant syndrome characterized by skeletal malformations primarily involving the vertebrae, immunodeficiency, endocrine abnormalities such as hypoparathyroidism and growth hormone deficiency, craniofacial dysmorphism, congenital cardiac anomalies consisting of double-outlet right ventricle, pulmonary valve stenosis and atrial septal defect, and developmental impairments. {ECO:0000269|PubMed:29726930}. Note=The disease is caused by variants affecting the gene represented in this entry.

4 regional properties for Q13207

Type	Name	Position	InterPro Accession
conserved_site	Transcription factor, T-box, conserved site	114 - 133	IPR018186-1
conserved_site	Transcription factor, T-box, conserved site	188 - 206	IPR018186-2
domain	T-box transcription factor 2/3, transcription activation domain	305 - 382	IPR022582
domain	T-box transcription factor, DNA-binding domain	104 - 292	IPR046360

Functions

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

4 GO annotations of cellular component

Name	Definition
chromatin	The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
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.
transcription regulator complex	A protein complex that is capable of associating with DNA by direct binding, or via other DNA-binding proteins or complexes, and regulating transcription.

8 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).
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 factor binding	Binding to a DNA-binding transcription factor, a protein that interacts with a specific DNA sequence (sometimes referred to as a motif) within the regulatory region of a gene to modulate transcription.
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.
histone deacetylase binding	Binding to histone deacetylase.
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 DNA binding	Binding to 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.
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.

43 GO annotations of biological process

Name	Definition
aorta morphogenesis	The process in which the anatomical structures of an aorta are generated and organized. An aorta is an artery that carries blood from the heart to other parts of the body.
apoptotic process	A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
atrioventricular canal development	The progression of the atrioventricular canal over time, from its formation to the mature structure. The atrioventricular canal is the part of the heart connecting the atrium to the cardiac ventricle.
atrioventricular canal morphogenesis	The developmental process by which an atrioventricular canal is generated and organized.
cardiac jelly development	The process whose specific outcome is the progression of cardiac jelly over time, from its formation to the mature structure. The cardiac jelly is an acellular gelatinous matrix secreted by the myocardium and plays a central role in the septation of the heart.
cardiac muscle cell myoblast differentiation	The process in which a relatively unspecialized cell acquires specialized features of a cardiac myoblast. A cardiac myoblast is a precursor cell that has been committed to a cardiac muscle cell fate but retains the ability to divide and proliferate throughout life.
cardiac muscle tissue development	The process whose specific outcome is the progression of cardiac muscle over time, from its formation to the mature structure.
cell fate specification	The process involved in the specification of cell identity. Once specification has taken place, a cell will be committed to differentiate down a specific pathway if left in its normal environment.
cellular senescence	A cell aging process stimulated in response to cellular stress, whereby normal cells lose the ability to divide through irreversible cell cycle arrest.
cochlea morphogenesis	The process in which the cochlea is generated and organized.
developmental growth involved in morphogenesis	The increase in size or mass of an anatomical structure that contributes to the structure attaining its shape.
embryonic camera-type eye morphogenesis	The process in which the anatomical structures of the eye are generated and organized during embryonic development.
embryonic digit morphogenesis	The process, occurring in the embryo, by which the anatomical structures of the digit are generated and organized. A digit is one of the terminal divisions of an appendage, such as a finger or toe.
embryonic heart tube development	The process whose specific outcome is the progression of the embryonic heart tube over time, from its formation to the mature structure. The heart tube forms as the heart rudiment from the heart field.
endocardial cushion formation	The developmental process pertaining to the initial formation of an endocardial cushion. The endocardial cushion is a specialized region of mesenchymal cells that will give rise to the heart septa and valves.
endocardial cushion morphogenesis	The process in which the anatomical structure of the endocardial cushion is generated and organized. The endocardial cushion is a specialized region of mesenchymal cells that will give rise to the heart septa and valves.
epithelial tube branching involved in lung morphogenesis	The process in which a highly ordered sequence of patterning events generates the branched epithelial tubes of the lung, consisting of reiterated combinations of bud outgrowth, elongation, and dichotomous subdivision of terminal units.
fibroblast growth factor receptor signaling pathway	The series of molecular signals generated as a consequence of a fibroblast growth factor receptor binding to one of its physiological ligands.
heart looping	The tube morphogenesis process in which the primitive heart tube loops asymmetrically. This looping brings the primitive heart chambers into alignment preceding their future integration. Heart looping begins with dextral-looping and ends when the main regional divisions of the mature heart and primordium of the great arterial trunks become established preceeding septation.
mammary placode formation	The developmental process in which the mammary placode forms. The mammary placode is a transient lens shaped structure that will give rise to the mammary bud proper.
melanocyte proliferation	The multiplication or reproduction of melanocytes, resulting in the expansion of a cell population. A melanocyte is a pigment cell derived from the neural crest. It contains melanin-filled pigment granules, which give a brown to black appearance.
mesenchymal cell proliferation involved in lung development	The multiplication or reproduction of cells, resulting in the expansion of a mesenchymal cell population that contributes to the progression of the lung over time. A mesenchymal cell is a cell that normally gives rise to other cells that are organized as three-dimensional masses, rather than sheets.
muscle cell fate determination	The cell fate determination process in which a cell becomes capable of differentiating autonomously into a muscle cell regardless of its environment; upon determination, the cell fate cannot be reversed.
negative regulation of cardiac chamber formation	Any process that stops, prevents or reduces the frequency, rate or extent of cardiac chamber formation.
negative regulation of cellular senescence	Any process that stops, prevents or reduces the frequency, rate or extent of cellular senescence.
negative regulation of DNA-templated transcription	Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
negative regulation of heart looping	Any process that stops, prevents or reduces the frequency, rate or extent of heart looping.
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.
neurogenesis	Generation of cells within the nervous system.
Notch signaling pathway	The series of molecular signals initiated by an extracellular ligand binding to the receptor Notch on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
outflow tract morphogenesis	The process in which the anatomical structures of the outflow tract are generated and organized. The outflow tract is the portion of the heart through which blood flows into the arteries.
outflow tract septum morphogenesis	The process in which the anatomical structures of the outflow tract septum are generated and organized. The outflow tract septum is a partition in the outflow tract.
pharynx development	The biological process whose specific outcome is the progression of a pharynx from an initial condition to its mature state. The pharynx is the part of the digestive system immediately posterior to the mouth.
pigment metabolic process involved in pigmentation	The chemical reactions and pathways involving a pigment, any general or particular coloring matter in living organisms, resulting in the deposition or aggregation of pigment in an organism, tissue or cell.
positive regulation of cardiac muscle cell proliferation	Any process that activates or increases the frequency, rate or extent of cardiac muscle cell proliferation.
positive regulation of cell cycle G1/S phase transition	Any signalling pathway that activates or increases the activity of a cell cycle cyclin-dependent protein kinase to modulate the switch from G1 phase to S phase of the cell cycle.
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 heart contraction	Any process that modulates the frequency, rate or extent of heart contraction. Heart contraction is the process in which the heart decreases in volume in a characteristic way to propel blood through the body.
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 retinoic acid	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 retinoic acid stimulus.
roof of mouth development	The biological process whose specific outcome is the progression of the roof of the mouth from an initial condition to its mature state. This process begins with the formation of the structure and ends with the mature structure. The roof of the mouth is the partition that separates the nasal and oral cavities.
smooth muscle cell differentiation	The process in which a relatively unspecialized cell acquires specialized features of a smooth muscle cell; smooth muscle lacks transverse striations in its constituent fibers and are almost always involuntary.
ureteric peristalsis	A wavelike sequence of involuntary muscular contraction and relaxation that passes along the ureter, impelling the contents onwards. The ureter is one of a pair of thick-walled tubes that transports urine from the kidney pelvis to the urinary bladder.

7 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P79779	TBX6L	T-box-containing protein TBX6L	Gallus gallus (Chicken)	PR
Q16650	TBR1	T-box brain protein 1	Homo sapiens (Human)	PR
Q64336	Tbr1	T-box brain protein 1	Mus musculus (Mouse)	PR
Q60707	Tbx2	T-box transcription factor TBX2	Mus musculus (Mouse)	PR
Q20257	tbx-11	Putative T-box protein 11	Caenorhabditis elegans	PR
Q22289	tbx-9	T-box transcription factor tbx-9	Caenorhabditis elegans	PR
Q9N2K7	tbx-30	Putative T-box protein 30/42	Caenorhabditis elegans	PR

10	20	30	40	50	60
MREPALAASA	MAYHPFHAPR	PADFPMSAFL	AAAQPSFFPA	LALPPGALAK	PLPDPGLAGA
70	80	90	100	110	120
AAAAAAAAAA	AEAGLHVSAL	GPHPPAAHLR	SLKSLEPEDE	VEDDPKVTLE	AKELWDQFHK
130	140	150	160	170	180
LGTEMVITKS	GRRMFPPFKV	RVSGLDKKAK	YILLMDIVAA	DDCRYKFHNS	RWMVAGKADP
190	200	210	220	230	240
EMPKRMYIHP	DSPATGEQWM	AKPVAFHKLK	LTNNISDKHG	FTILNSMHKY	QPRFHIVRAN
250	260	270	280	290	300
DILKLPYSTF	RTYVFPETDF	IAVTAYQNDK	ITQLKIDNNP	FAKGFRDTGN	GRREKRKQLT
310	320	330	340	350	360
LPSLRLYEEH	CKPERDGAES	DASSCDPPPA	REPPTSPGAA	PSPLRLHRAR	AEEKSCAADS
370	380	390	400	410	420
DPEPERLSEE	RAGAPLGRSP	APDSASPTRL	TEPERARERR	SPERGKEPAE	SGGDGPFGLR
430	440	450	460	470	480
SLEKERAEAR	RKDEGRKEAA	EGKEQGLAPL	VVQTDSASPL	GAGHLPGLAF	SSHLHGQQFF
490	500	510	520	530	540
GPLGAGQPLF	LHPGQFTMGP	GAFSAMGMGH	LLASVAGGGN	GGGGGPGTAA	GLDAGGLGPA
550	560	570	580	590	600
ASAASTAAPF	PFHLSQHMLA	SQGIPMPTFG	GLFPYPYTYM	AAAAAAASAL	PATSAAAAAA
610	620	630	640	650	660
AAAGSLSRSP	FLGSARPRLR	FSPYQIPVTI	PPSTSLLTTG	LASEGSKAAG	GNSREPSPLP
670	680	690	700	710
ELALRKVGAP	SRGALSPSGS	AKEAANELQS	IQRLVSGLES	QRALSPGRES	PK