AiPD: Autoinhibited Protein Database

P48436

Gene name	SOX9
Protein name	Transcription factor SOX-9
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:6662
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

3-78 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

3-78 (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 P48436

Entry ID	Method	Resolution	Chain	Position	Source
4EUW	X-ray	277 A	A	98-181	PDB
AF-P48436-F1	Predicted				AlphaFoldDB

554 variants for P48436

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001337649 CA400865427 rs1276160255	20	G>A	Camptomelic dysplasia [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000148999 CA174087 rs193920972	21	A>T	Malignant tumor of prostate [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA8738869 rs575451633 RCV001518396	26	M>V	Camptomelic dysplasia [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
VAR_078490	28	E>del	CMD1 [UniProt]	Yes	UniProt
RCV000853297 rs759597531 CA400865729	66	E>*	Campomelic dysplasia with autosomal sex reversal [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
VAR_063642 rs137853128 RCV000002621 RCV001266938 CA115587	76	A>E	Acampomelic campomelic dysplasia Inborn genetic diseases CMD1; dimerization and the resulting capacity to activate promoters via dimeric binding sites is lost; other features of the protein function remain unaltered [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001267144 rs1908097162	83	G>R	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
RCV000531068 CA400865857 rs1555629022	84	Y>*	Camptomelic dysplasia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001267683 rs1908098789	94	R>missing	Camptomelic dysplasia [ClinVar]	Yes	ClinVar dbSNP
RCV000002619 rs1598175249	99	S>missing	Campomelic dysplasia with autosomal sex reversal [ClinVar]	Yes	ClinVar dbSNP
VAR_003735	108	P>L	CMD1 [UniProt]	Yes	UniProt
rs1425166755 RCV000624587 CA400866030	111	A>T	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA400866042 rs1407667250 VAR_003736	112	F>L	Variant assessed as Somatic; 0.0 impact. CMD1; loss of DNA binding [NCI-TCGA, UniProt]	Yes	ClinGen UniProt NCI-TCGA dbSNP gnomAD
VAR_003737	112	F>S	CMD1 [UniProt]	Yes	UniProt
VAR_063643	113	M>T	CMD1 [UniProt]	Yes	UniProt
VAR_063644	113	M>V	CMD1; residual DNA binding and transactivation of regulated genes [UniProt]	Yes	UniProt
RCV000543112 CA400866075 rs1555629037	117	Q>*	Camptomelic dysplasia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000283868 rs886043537 RCV001236843 CA10605632	119	A>E	Camptomelic dysplasia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_003738	119	A>V	CMD1; almost no loss of DNA binding [UniProt]	Yes	UniProt
VAR_003739	143	W>R	CMD1 [UniProt]	Yes	UniProt
VAR_003740	152	R>P	CMD1 [UniProt]	Yes	UniProt
RCV000002623 CA252319 rs137853129 VAR_008529	154	F>L	Camptomelic dysplasia CMD1; 5% of wild-type DNA binding activity; transcriptional activation is only reduced to 26% of wild-type activity [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000002624 CA115588 VAR_008530 rs137853130 RCV001851587	158	A>T	Camptomelic dysplasia Campomelic dysplasia with autosomal sex reversal CMD1; 17% of wild-type DNA binding activity; shows a 2-fold reduction in nuclear import efficiency; transcriptional activation is only reduced to 62% of wild-type activity [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000754788 CA400866407 rs1567910689	164	Q>P	Camptomelic dysplasia Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
VAR_063645	165	H>Q	CMD1; residual DNA binding and transactivation of regulated genes [UniProt]	Yes	UniProt
rs1908142392 RCV001267184	165	H>R	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
RCV000002620 rs28940282 VAR_008531 CA115586	165	H>Y	Acampomelic campomelic dysplasia CMD1; loss of DNA binding [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1908142618 RCV001249774	168	D>G	Camptomelic dysplasia [ClinVar]	Yes	ClinVar dbSNP
VAR_078491	169	H>P	CMD1; decreased 75% transactivational activity [UniProt]	Yes	UniProt
CA10581490 RCV001266335 RCV000278794 rs2229989 VAR_078492 RCV000224991	169	H>Q	Camptomelic dysplasia Inborn genetic diseases CMD1; mild form overlapping with small patella syndrome; decreased 50% transactivational activity [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001329809 rs866706988 RCV001291597	170	P>A	Camptomelic dysplasia [ClinVar]	Yes	ClinVar dbSNP
VAR_063646 rs1131691554 CA400866452 RCV000494341	170	P>L	CMD1 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_003741	170	P>R	CMD1 [UniProt]	Yes	UniProt
CA400866451 RCV000853284 rs866706988 RCV000677668 RCV002254708	170	P>S	Camptomelic dysplasia Campomelic dysplasia with autosomal sex reversal [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA400866467 RCV000578438 rs1555629158	172	Y>C	Camptomelic dysplasia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_063647 rs104894647 RCV000002618 CA115585	173	K>E	Acampomelic campomelic dysplasia CMD1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA400866480 rs1555629165 RCV000623666	174	Y>S	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001378337 rs1555629170 RCV000520332 CA400866496	176	P>R	Camptomelic dysplasia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000002612 rs1480235826 CA400866609	195	Q>*	Camptomelic dysplasia [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA400866636 rs762685531 RCV001299543	199	S>F	Camptomelic dysplasia [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000644442 rs747366415 CA8738968	218	M>I	Camptomelic dysplasia Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001293847 rs1567911132	237	P>missing	Colorectal cancer [ClinVar]	Yes	ClinVar dbSNP
rs1567911132 RCV001727844 RCV001573227 RCV000722507 RCV001198774	238	P>missing	Camptomelic dysplasia [ClinVar]	Yes	ClinVar dbSNP
rs587776541 RCV000002616 RCV000002615	246	Q>missing	Camptomelic dysplasia Campomelic dysplasia with autosomal sex reversal [ClinVar]	Yes	ClinVar dbSNP
CA8739025 RCV001317932 rs752926968	263	G>S	Camptomelic dysplasia [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002512682 RCV000002613 rs1274036689	264	R>missing	Camptomelic dysplasia Campomelic dysplasia with autosomal sex reversal [ClinVar]	Yes	ClinVar dbSNP
CA8739045 RCV002592194 rs143697828 RCV002592195	305	G>A	Camptomelic dysplasia Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA8739049 rs202028563 RCV001879672	307	P>R	Camptomelic dysplasia [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1324081394 CA400867414 RCV000853396	319	Y>*	Camptomelic dysplasia [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA400867430 RCV000823160 rs1239456905 RCV000519049	322	S>N	Camptomelic dysplasia [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1339655148 RCV002530370 RCV000578794 CA400867544	340	Q>*	Camptomelic dysplasia [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001811465 RCV002279516 RCV002067190 CA8739079 rs768818630	345	P>S	Connective tissue disorder Camptomelic dysplasia [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000331219 rs776337541 RCV003103757	346	P>missing	Camptomelic dysplasia [ClinVar]	Yes	ClinVar dbSNP
rs761585795 RCV000990055	354	P>missing	Camptomelic dysplasia [ClinVar]	Yes	ClinVar dbSNP
VAR_003742	354	P>del	CMD1 [UniProt]	Yes	UniProt
rs772713612 RCV002563207 RCV001577486 RCV001231789	362	P>missing	Camptomelic dysplasia Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
rs1598176785 RCV000002625 RCV000002626	369	Q>missing	Camptomelic dysplasia Campomelic dysplasia with autosomal sex reversal [ClinVar]	Yes	ClinVar dbSNP
rs1908199604 RCV001341801	370	P>L	Camptomelic dysplasia [ClinVar]	Yes	ClinVar dbSNP
rs1598176852 RCV000853398 CA400867868	393	Q>*	Camptomelic dysplasia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000414443 CA16043058 COSM1385639 rs1057518216 RCV000559431	394	R>*	Camptomelic dysplasia large_intestine Variant assessed as Somatic; impact. [ClinVar, Cosmic, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD
rs1341243329 CA400868002 RCV000853397	412	Q>*	Camptomelic dysplasia [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV002276527 rs80338688 RCV000020283 RCV000020282 RCV000310390 RCV000321802 CA341683 RCV000002617 CA115583	440	Y>*	Connective tissue disorder Campomelic dysplasia with autosomal sex reversal Camptomelic dysplasia [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_083521	440	Y>del	CMD1 [UniProt]	Yes	UniProt
RCV000578277 CA400868308 rs1555629443	458	Q>*	Camptomelic dysplasia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000415154 rs1057518669 CA16043696	476	M>T	Camptomelic dysplasia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs149888060 RCV001322421 CA8739174	504	T>A	Camptomelic dysplasia [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA400865305 rs1479987082	2	N>K		No	ClinGen gnomAD
CA8738859 rs768210143	5	D>E		No	ClinGen ExAC gnomAD
rs866679165 CA293780901	6	P>S		No	ClinGen TOPMed gnomAD
CA400865346 rs1452893426	8	M>I		No	ClinGen TOPMed
TCGA novel	8	M>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400865338 rs1221846522	8	M>L		No	ClinGen TOPMed
rs1287145712 CA400865365	11	T>A		No	ClinGen TOPMed
rs1244512563 CA400865367	11	T>N		No	ClinGen TOPMed
CA400865385 CA400865384 rs1172992469	13	E>D		No	ClinGen TOPMed gnomAD
rs1478425968 COSM1750269 CA400865378	13	E>K	urinary_tract [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA8738864 rs772903403	15	E>K		No	ClinGen ExAC gnomAD
CA400865406 rs1404583942	16	K>M		No	ClinGen TOPMed gnomAD
CA400865405 rs1404583942	16	K>R		No	ClinGen TOPMed gnomAD
CA8738865 rs762942282	17	G>V		No	ClinGen ExAC TOPMed gnomAD
CA8738866 rs770996719	18	L>R		No	ClinGen ExAC TOPMed gnomAD
rs775652942 CA8738867	19	S>F		No	ClinGen ExAC gnomAD
CA400865438 rs760834344	22	P>L		No	ClinGen ExAC gnomAD
CA8738868 rs760834344	22	P>R		No	ClinGen ExAC gnomAD
rs1019580760 CA293780960	22	P>S		No	ClinGen TOPMed gnomAD
rs1482055922 CA400865465	26	M>I		No	ClinGen gnomAD
CA400865485 rs1371768776	29	D>A		No	ClinGen TOPMed
TCGA novel	29	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA293780979 rs1003847603	30	S>C		No	ClinGen TOPMed
CA400865499 rs1257248748	31	A>S		No	ClinGen gnomAD
CA400865497 rs1257248748	31	A>T		No	ClinGen gnomAD
rs1417947256 CA400865506	32	G>D		No	ClinGen gnomAD
rs1196498041 CA400865504	32	G>R		No	ClinGen gnomAD
CA8738872 rs765600450	36	P>Q		No	ClinGen ExAC gnomAD
rs765600450 CA8738873	36	P>R		No	ClinGen ExAC gnomAD
CA400865531 rs1433090383	36	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	37	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	37	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400865553 rs1567910118	40	G>C		No	ClinGen Ensembl
CA8738874 rs758848875	43	T>A		No	ClinGen ExAC gnomAD
rs780529883 CA8738875	43	T>I		No	ClinGen ExAC gnomAD
rs1386891071 CA400865595	46	T>R		No	ClinGen gnomAD
rs752124347 CA8738876	47	R>L		No	ClinGen ExAC TOPMed gnomAD
CA400865598 rs1310139412	47	R>W		No	ClinGen gnomAD
CA8738878 rs780613069	48	P>L		No	ClinGen ExAC gnomAD
CA8738877 rs754474934	48	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1203855459 CA400865612	49	Q>H		No	ClinGen gnomAD
CA400865610 rs1276737891	49	Q>R		No	ClinGen TOPMed
CA293781060 rs969167599	51	N>S		No	ClinGen TOPMed
CA400865635 rs1485820060	52	T>R		No	ClinGen gnomAD
CA400865646 rs1269568418	54	P>T		No	ClinGen gnomAD
rs1370029373 CA400865671	57	E>D		No	ClinGen TOPMed
rs749108550 CA8738882	57	E>K		No	ClinGen ExAC TOPMed gnomAD
CA8738883 rs770917232	58	P>R		No	ClinGen ExAC TOPMed gnomAD
CA293781098 rs367592961	59	D>N		No	ClinGen ESP TOPMed gnomAD
rs367592961 CA400865678	59	D>Y		No	ClinGen ESP TOPMed gnomAD
rs778226772	62	K>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA293781101 rs953588825	62	K>E		No	ClinGen TOPMed
rs1295144957 CA400865710	63	E>D		No	ClinGen gnomAD
rs1354393467 CA400865708	63	E>G		No	ClinGen TOPMed
CA400865705 rs149852681	63	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA8738885 rs149852681	63	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1354393467 CA400865709	63	E>V		No	ClinGen TOPMed
CA400865716 rs1368180768	64	S>T		No	ClinGen gnomAD
CA400865724 rs1309589494	65	E>G		No	ClinGen gnomAD
TCGA novel	66	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8738886 rs759597531	66	E>K		No	ClinGen ExAC gnomAD
rs769953292 CA400865738	67	D>A		No	ClinGen ExAC TOPMed gnomAD
CA8738888 rs769953292	67	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1182522222 CA400865735	67	D>N		No	ClinGen gnomAD
CA400865760 rs1316632405	70	P>S		No	ClinGen gnomAD
TCGA novel	74	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA293781175 rs374439583	74	R>S		No	ClinGen ESP TOPMed
rs750706326 CA8738891	75	E>D		No	ClinGen ExAC gnomAD
rs1239068559 CA400865803	77	V>L		No	ClinGen gnomAD
rs1175328216 CA400865811	78	S>N		No	ClinGen gnomAD
CA400865832 rs1424115604	81	L>F		No	ClinGen gnomAD
CA400865841 rs1426824674	82	K>R		No	ClinGen TOPMed
TCGA novel	85	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs368623884 CA293781192	85	D>H		No	ClinGen ESP TOPMed gnomAD
rs368623884 CA400865858	85	D>N		No	ClinGen ESP TOPMed gnomAD
CA400865889 rs1460513055	89	V>A		No	ClinGen gnomAD
RCV000658382 rs1555629028	91	M>missing		No	ClinVar dbSNP
CA8738895 rs755459350	91	M>I		No	ClinGen ExAC TOPMed gnomAD
rs766764961 CA8738893	91	M>L		No	ClinGen ExAC gnomAD
CA8738894 rs752036712	91	M>T		No	ClinGen ExAC gnomAD
CA293781198 rs866508426	92	P>S		No	ClinGen Ensembl
COSM3691760 rs1373080436 CA400865917	94	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs148407362 CA8738898	96	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8738899 rs777553641	97	G>C		No	ClinGen ExAC TOPMed gnomAD
CA400865934 rs777553641	97	G>R		No	ClinGen ExAC TOPMed gnomAD
CA8738900 rs748989255	99	S>N		No	ClinGen ExAC gnomAD
CA400865965 rs1232479837	101	N>K		No	ClinGen gnomAD
TCGA novel	104	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10604349 rs886042523 RCV000259486	106	K>E		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel	107	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	108	P>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400866031 rs1425166755	111	A>P		No	ClinGen gnomAD
COSM1385624 CA400866062 RCV000756682 rs1567910274	115	W>*	large_intestine [Cosmic]	No	ClinGen cosmic curated ClinVar Ensembl dbSNP
TCGA novel	115	W>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1327802772 CA400866082	118	A>T		No	ClinGen gnomAD
TCGA novel	121	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	123	L>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV000433660 CA16607507 rs1057524437	124	A>P		No	ClinGen ClinVar Ensembl dbSNP
rs748167077 CA400866139	126	Q>H		No	ClinGen ExAC gnomAD
CA400866156 rs1279323725	129	H>Y		No	ClinGen gnomAD
TCGA novel	130	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV001812444 rs1908102423	131	H>missing		No	ClinVar dbSNP
CA400866171 rs1341586323	131	H>Y		No	ClinGen gnomAD
TCGA novel	136	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1443204761 CA400866216	137	K>E		No	ClinGen gnomAD
CA400866225 RCV000523771 rs1555629043	138	T>K		No	ClinGen ClinVar Ensembl dbSNP
rs528850018 CA293781340	142	L>F		No	ClinGen 1000Genomes
CA400866260 RCV000756678 rs1567910317	143	W>C		No	ClinGen ClinVar Ensembl dbSNP
rs1331779898 CA400866285	145	L>H		No	ClinGen gnomAD
rs1908139397 RCV001269837	146	L>*		No	ClinVar dbSNP
rs547222137 CA293782136	147	N>T		No	ClinGen 1000Genomes
RCV000306254 CA10603321 rs886041242	148	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ClinVar NCI-TCGA TOPMed dbSNP
rs886041242 CA400866301	148	E>Q		No	ClinGen TOPMed
rs1465795705 CA400866321	150	E>D		No	ClinGen gnomAD
TCGA novel	152	R>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	152	R>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA293782161 rs965946174	153	P>L		No	ClinGen Ensembl
RCV001267957 rs1908140880	159	E>missing		No	ClinVar dbSNP
TCGA novel	160	R>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA16043055 RCV000413454 rs1057518419	160	R>P		No	ClinGen ClinVar Ensembl dbSNP
rs774639088 CA8738931	162	R>H		No	ClinGen ExAC gnomAD
rs1211255730 CA400866401	163	V>A		No	ClinGen gnomAD
CA400866398 CA400866399 rs1469442385	163	V>L		No	ClinGen TOPMed gnomAD
CA400866397 rs1469442385	163	V>M		No	ClinGen TOPMed gnomAD
CA293782222 rs866706988	170	P>T		No	ClinGen Ensembl
rs1468883015 CA400866457	171	D>Y		No	ClinGen gnomAD
TCGA novel	172	Y>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	173	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs925119013 CA293782230	173	K>R		No	ClinGen TOPMed
RCV000486195 rs373719106 RCV000760948 CA16620596 CA400866483	174	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD NCI-TCGA
COSM1385628 CA400866494 rs1555629169 RCV000498972	176	P>S	large_intestine Variant assessed as Somatic; impact. central_nervous_system [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
rs794727246 CA241338 RCV000175588	177	R>Q		No	ClinGen ClinVar Ensembl dbSNP
CA241340 RCV000175589 rs794727247	179	R>G		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel	181	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400866530 rs1354294733	182	V>A		No	ClinGen TOPMed
CA8738940 rs779943975	182	V>M		No	ClinGen ExAC gnomAD
CA400866536 rs1412598968	183	K>R		No	ClinGen TOPMed gnomAD
rs751400812 CA293782307 CA8738941	184	N>K		No	ClinGen ExAC
rs1469172813 CA400866543	184	N>T		No	ClinGen gnomAD
rs777760556 CA8738943	185	G>E		No	ClinGen ExAC gnomAD
rs754935813 CA400866547	185	G>R		No	ClinGen ExAC TOPMed gnomAD
CA8738942 rs754935813	185	G>W		No	ClinGen ExAC TOPMed gnomAD
rs886039700 RCV000255093	186	Q>missing		No	ClinVar dbSNP
TCGA novel	186	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8738945 RCV000487804 rs771056492	187	A>P		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs771056492 CA400866558	187	A>T		No	ClinGen ExAC TOPMed gnomAD
rs746150703 CA8738948	190	E>G		No	ClinGen ExAC gnomAD
COSM1750270 CA293782359 rs61740803	190	E>Q	Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA8738949 rs772277252	191	E>A		No	ClinGen ExAC gnomAD
rs775956539 CA8738950	192	A>S		No	ClinGen ExAC gnomAD
CA8738951 rs761199061	193	T>A		No	ClinGen ExAC gnomAD
rs375577899 CA293782385	194	E>G		No	ClinGen ESP TOPMed gnomAD
rs1174185362 CA400866600	194	E>K		No	ClinGen gnomAD
CA400866608 rs1480235826	195	Q>E		No	ClinGen TOPMed
CA400866612 rs1417266505	195	Q>L		No	ClinGen gnomAD
rs777338876 CA8738953	196	T>M		No	ClinGen ExAC TOPMed gnomAD
CA400866621 rs1390665178	197	H>D		No	ClinGen gnomAD
rs1462845239 CA400866625	197	H>L		No	ClinGen TOPMed
rs146754673 CA293782432	197	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs750018537 CA8738956	198	I>N		No	ClinGen ExAC gnomAD
TCGA novel	198	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1292551352 CA400866633	199	S>P		No	ClinGen gnomAD
rs762685531 CA8738957	199	S>Y		No	ClinGen ExAC gnomAD
CA400866640 rs1249311365	200	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1249311365 CA400866639	200	P>T		No	ClinGen TOPMed gnomAD
rs1338326231 CA400866648	201	N>S		No	ClinGen gnomAD
CA400866664 rs140368355	203	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA400866658 rs1222573664	203	I>V		No	ClinGen TOPMed
TCGA novel	204	F>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8738960 rs754850647	204	F>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	206	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8738961 rs781092407	209	A>S		No	ClinGen ExAC gnomAD
CA400866702 rs1403504655	209	A>V		No	ClinGen TOPMed
RCV000658383 rs1555629195	210	D>missing		No	ClinVar dbSNP
CA8738965 rs746038858	210	D>E		No	ClinGen ExAC gnomAD
CA8738964 rs201541265	210	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201541265 CA8738963	210	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	211	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8738966 rs772345173	213	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs753729288 CA293782539	213	H>R		No	ClinGen Ensembl
rs1174435172 CA400866723	213	H>Y		No	ClinGen gnomAD
TCGA novel	214	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1412662021 CA400866730	214	S>F		No	ClinGen TOPMed gnomAD
CA293782549 rs1033953308	215	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA400866742 rs1567910848	216	S>C		No	ClinGen Ensembl
TCGA novel	216	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA293782559 rs865810520	217	G>D		No	ClinGen Ensembl
rs905638075 CA293782553	217	G>R		No	ClinGen Ensembl
rs377486002 CA8738967	218	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs769213732 CA8738969	219	S>N		No	ClinGen ExAC gnomAD
CA400866775 rs1598176075	221	V>G		No	ClinGen Ensembl
TCGA novel	222	H>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1281960758 CA400866782	222	H>Q		No	ClinGen gnomAD
rs769133543 CA8738972	222	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA400866787 rs772806721	223	S>C		No	ClinGen ExAC TOPMed gnomAD
CA8738973 rs772806721	223	S>F		No	ClinGen ExAC TOPMed gnomAD
CA400866786 rs772806721	223	S>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	224	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400866792 rs1262569164	224	P>L		No	ClinGen TOPMed
TCGA novel	225	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759320911 CA8738977	225	G>S		No	ClinGen ExAC TOPMed gnomAD
CA400866799 rs1197125838	226	E>K		No	ClinGen gnomAD
CA8738979 rs752582434	227	H>L		No	ClinGen ExAC gnomAD
rs756077595 CA8738980	228	S>P		No	ClinGen ExAC gnomAD
CA293783235 rs1040106193	232	Q>H		No	ClinGen Ensembl
TCGA novel	233	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs984877127 CA293783242	235	P>Q		No	ClinGen TOPMed
TCGA novel	237	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400866889 rs1329065873	238	P>A		No	ClinGen gnomAD
CA400866894 rs1275128261	239	T>P		No	ClinGen TOPMed gnomAD
CA400866900 rs1224146749	240	T>P		No	ClinGen TOPMed
rs749798911 CA8739011	240	T>S		No	ClinGen ExAC gnomAD
rs1233623657 CA400866905	241	P>S		No	ClinGen gnomAD
CA400866911 rs1481515653	242	K>Q		No	ClinGen TOPMed gnomAD
rs1598176416 RCV001008302	243	T>missing		No	ClinVar dbSNP
TCGA novel	243	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400866926 rs1407238192	244	D>H		No	ClinGen TOPMed gnomAD
TCGA novel	244	D>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs375127115 CA400866934	245	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8739012 rs375127115	245	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000485751 rs1064793556	246	Q>missing		No	ClinVar dbSNP
RCV000728411 CA8739013 rs773882079	246	Q>P		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1460431767 CA400866949	247	P>L		No	ClinGen gnomAD
CA8739014 rs566929141	247	P>T		No	ClinGen 1000Genomes ExAC gnomAD
rs534044974 CA8739015	251	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	252	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775182990 CA8739016	252	L>P		No	ClinGen ExAC TOPMed gnomAD
rs183824168 CA8739017	254	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs183824168 CA8739018	254	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	256	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	257	R>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1220067083 CA400867011	257	R>P		No	ClinGen gnomAD
CA8739021 rs761682807	258	P>L		No	ClinGen ExAC gnomAD
rs761682807 CA8739020	258	P>R		No	ClinGen ExAC gnomAD
rs1295597096 CA400867012	258	P>T		No	ClinGen gnomAD
CA400867029 RCV000593996 rs1555629290	261	E>*		No	ClinGen ClinVar Ensembl dbSNP
rs751690259 CA8739023 CA293783338	261	E>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	261	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8739024 rs767836798 CA400867035	262	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1196485591 CA400867039	262	G>V		No	ClinGen TOPMed
RCV001310377 rs1274036689	263	G>missing		No	ClinVar dbSNP
rs1274036689	263	G>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA400867042 rs756469416	263	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
CA8739026 rs756469416	263	G>V		No	ClinGen ExAC TOPMed
TCGA novel	264	R>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778047936 CA8739027	264	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs949594699 CA293783351	265	Q>E		No	ClinGen TOPMed
TCGA novel	268	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757709630 CA8739029	268	I>V		No	ClinGen ExAC gnomAD
COSM707420 rs778335883 CA8739030	269	D>E	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
TCGA novel	270	F>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8739032 rs771635102	271	R>C		No	ClinGen ExAC TOPMed gnomAD
rs771635102 CA400867091	271	R>G		No	ClinGen ExAC TOPMed gnomAD
CA293783383 rs201477430	273	V>L		No	ClinGen TOPMed gnomAD
TCGA novel	274	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV001008320 rs1598176495	276	G>missing		No	ClinVar dbSNP
rs768444599 CA8739035	276	G>R		No	ClinGen ExAC TOPMed gnomAD
rs768444599 CA400867123	276	G>S		No	ClinGen ExAC TOPMed gnomAD
rs776317419 CA8739036	277	E>D		No	ClinGen ExAC TOPMed gnomAD
CA8739037 rs761747688	280	S>G		No	ClinGen ExAC gnomAD
rs769869469 CA400867161	281	D>E		No	ClinGen ExAC TOPMed gnomAD
CA400867175 rs1213053148	283	I>M		No	ClinGen TOPMed gnomAD
CA8739041 rs767748183	287	E>Q		No	ClinGen ExAC gnomAD
CA400867208 rs1212728212	288	T>N		No	ClinGen TOPMed gnomAD
rs752943571 CA8739042	289	F>L		No	ClinGen ExAC gnomAD
CA400867224 rs1193731490	290	D>E		No	ClinGen gnomAD
rs1243362743 CA400867226	291	V>I		No	ClinGen gnomAD
rs1474111123 CA400867239	292	N>K		No	ClinGen TOPMed gnomAD
rs1174668473 CA400867235	292	N>T		No	ClinGen TOPMed
rs961884103 CA293783432	296	Q>P		No	ClinGen gnomAD
rs961884103 CA400867267	296	Q>R		No	ClinGen gnomAD
RCV001008227 rs1598176531	297	Y>missing		No	ClinVar dbSNP
rs1598176534 CA400867274	297	Y>S		No	ClinGen Ensembl
TCGA novel	299	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1175902013 CA400867300	301	N>S		No	ClinGen gnomAD
rs1414403898 CA400867304	302	G>S		No	ClinGen gnomAD
rs1319504499 CA400867309	302	G>V		No	ClinGen gnomAD
CA400867316 rs1347071167	303	H>Q		No	ClinGen TOPMed gnomAD
CA293783453 rs994687929	304	P>A		No	ClinGen TOPMed gnomAD
CA400867318 rs994687929	304	P>T		No	ClinGen TOPMed gnomAD
rs1297203260	306	V>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs779386878 COSM359131 CA8739047	306	V>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA293783460 rs202028563	307	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA400867335 rs1286206233	307	P>S		No	ClinGen gnomAD
CA8739051 rs746628734	308	A>T		No	ClinGen ExAC gnomAD
TCGA novel	309	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780987236 CA8739053	310	H>D		No	ClinGen ExAC gnomAD
rs138423956 CA400867353	310	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs769781671 CA8739055	311	G>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	312	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	312	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	314	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400867389 rs1316101365	316	T>A		No	ClinGen TOPMed
CA400867393 rs1399089944	316	T>M		No	ClinGen TOPMed gnomAD
CA8739057 rs749288263	317	G>D		No	ClinGen ExAC gnomAD
TCGA novel	319	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772231279 CA8739058	320	G>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	324	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1348433812 CA400867454	325	A>V		No	ClinGen gnomAD
rs143983059 CA8739061	326	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs76093568 CA293783504	327	T>A		No	ClinGen Ensembl
rs776977497 CA400867463	327	T>I		No	ClinGen ExAC TOPMed gnomAD
CA8739062 rs776977497	327	T>N		No	ClinGen ExAC TOPMed gnomAD
rs1451445875 CA400867469	328	P>L		No	ClinGen gnomAD
CA400867468 rs1451445875	328	P>R		No	ClinGen gnomAD
CA400867466 rs1266191864	328	P>S		No	ClinGen gnomAD
CA10640438 rs886053351	329	A>V		No	ClinGen Ensembl
rs1243340307 CA400867478	330	S>I		No	ClinGen TOPMed gnomAD
CA400867480 rs1243340307	330	S>T		No	ClinGen TOPMed gnomAD
CA8739069 rs751049318	331	A>E		No	ClinGen ExAC TOPMed gnomAD
CA400867483 rs199887368	331	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8739067 rs199887368	331	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs751049318 CA8739068	331	A>V		No	ClinGen ExAC TOPMed gnomAD
CA8739071 rs747845908	332	G>S		No	ClinGen ExAC gnomAD
rs1293001310 CA400867495	333	H>R		No	ClinGen TOPMed
CA8739074 CA8739073 rs777735151	334	V>L		No	ClinGen ExAC gnomAD
CA400867511 rs1333697254	335	W>C		No	ClinGen gnomAD
CA400867513 rs1409147937	336	M>V		No	ClinGen gnomAD
rs774405051 CA8739076	337	S>A		No	ClinGen ExAC gnomAD
CA400867523 rs1336360702	337	S>Y		No	ClinGen gnomAD
CA400867530 rs1264553569	338	K>R		No	ClinGen gnomAD
rs1253122988 CA400867553	341	A>V		No	ClinGen TOPMed gnomAD
CA400867561 rs1182134893	342	P>L		No	ClinGen gnomAD
rs1258787580 CA400867567	343	P>L		No	ClinGen gnomAD
rs1598176657 RCV001008900	345	P>missing		No	ClinVar dbSNP
CA400867584 rs1169811800	346	P>L		No	ClinGen gnomAD
rs1462690222 CA400867580	346	P>S		No	ClinGen gnomAD
TCGA novel	347	Q>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1313459777 CA400867604	349	P>H		No	ClinGen TOPMed gnomAD
CA400867603 rs1428820840	349	P>S		No	ClinGen gnomAD
CA400867612 rs1357275943	350	P>L		No	ClinGen gnomAD
rs949561619 CA293783599	351	Q>P		No	ClinGen TOPMed
CA400867630 rs762041707	353	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8739082 rs762041707	353	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs1212048972 CA400867637	355	A>S		No	ClinGen TOPMed
rs1212048972 CA400867639	355	A>T		No	ClinGen TOPMed
CA400867642 rs1320577043	355	A>V		No	ClinGen gnomAD
CA400867647 rs765542809	356	P>L		No	ClinGen ExAC TOPMed gnomAD
CA400867646 rs765542809	356	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs765542809 CA8739084	356	P>R		No	ClinGen ExAC TOPMed gnomAD
rs527344892 CA293783652	357	Q>L		No	ClinGen 1000Genomes
rs773567014 CA8739086	358	A>E		No	ClinGen ExAC gnomAD
rs1217457548 CA400867662	359	P>S		No	ClinGen TOPMed
rs1255573826 RCV001268794	361	Q>*		No	ClinVar dbSNP
CA400867672 rs1255573826	361	Q>K		No	ClinGen TOPMed gnomAD
CA400867683 rs1429147312	362	P>S		No	ClinGen gnomAD
rs1298472162 CA400867690	363	Q>P		No	ClinGen TOPMed
CA293783697 rs200133354	364	A>E		No	ClinGen 1000Genomes ExAC TOPMed
rs200658115 CA293783691	364	A>P		No	ClinGen ExAC TOPMed gnomAD
rs200658115 CA400867695	364	A>S		No	ClinGen ExAC TOPMed gnomAD
rs200658115 COSM1610695 CA8739090	364	A>T	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA8739091 rs200133354	364	A>V		No	ClinGen 1000Genomes ExAC TOPMed
rs200168037 CA293783716	365	A>S		No	ClinGen Ensembl
CA400867701 rs1201663893	365	A>V		No	ClinGen TOPMed
CA8739095 rs752349944	366	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1555629374 RCV000505952	367	P>missing		No	ClinVar dbSNP
CA8739096 rs542727010	367	P>A		No	ClinGen 1000Genomes ExAC gnomAD
CA400867708 rs542727010	367	P>S		No	ClinGen 1000Genomes ExAC gnomAD
RCV000599489 rs1555629370	368	Q>missing		No	ClinVar dbSNP
CA400867723 rs1255723826	369	Q>P		No	ClinGen TOPMed
CA8739098 rs376470765	371	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs376470765 CA8739097	371	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs745864586 CA8739100	372	A>T		No	ClinGen ExAC gnomAD
TCGA novel	372	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA293783760 rs112211472	373	P>R		No	ClinGen Ensembl
rs1230986531 CA400867745	373	P>S		No	ClinGen TOPMed
CA400867750 rs770013452	374	P>L		No	ClinGen ExAC TOPMed gnomAD
rs770013452 CA400867749	374	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs770013452 CA8739104	374	P>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	374	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781278609 CA8739103	374	P>S		No	ClinGen ExAC gnomAD
rs781278609 CA8739102	374	P>T		No	ClinGen ExAC gnomAD
TCGA novel	376	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8739106 rs763307623	378	Q>R		No	ClinGen ExAC gnomAD
rs771370458 CA8739107	379	A>E		No	ClinGen ExAC gnomAD
CA400867788 rs1239478092	380	H>R		No	ClinGen gnomAD
rs1194444347 CA400867815	384	T>M		No	ClinGen TOPMed gnomAD
rs1194444347 CA400867814	384	T>R		No	ClinGen TOPMed gnomAD
CA8739112 rs760346231	385	L>R		No	ClinGen ExAC gnomAD
rs1403005962 CA400867821	386	S>G		No	ClinGen TOPMed
rs763834941 CA8739113	388	E>K		No	ClinGen ExAC gnomAD
TCGA novel	389	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753584114 CA8739114	389	P>T		No	ClinGen ExAC gnomAD
rs750284138 CA8739117	390	G>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	390	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8739116 rs778788591	390	G>S		No	ClinGen ExAC gnomAD
CA400867856 rs1327441656	391	Q>R		No	ClinGen gnomAD
CA293783901 rs1016657347	393	Q>R		No	ClinGen TOPMed
TCGA novel	393	Q>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1301255636 CA400867882	395	T>M		No	ClinGen gnomAD
rs1057524043 CA16607835 RCV000424986	398	K>R		No	ClinGen ClinVar Ensembl dbSNP
RCV001269939 rs1908204839	399	T>missing		No	ClinVar dbSNP
CA400867908 rs1241721586	399	T>K		No	ClinGen gnomAD
CA8739124 rs771153279	406	H>Q		No	ClinGen ExAC gnomAD
CA400867957 rs1351218311	406	H>R		No	ClinGen TOPMed
rs1255091750 CA400867962	407	Y>H		No	ClinGen TOPMed gnomAD
rs1025099692 CA293783950	408	S>I		No	ClinGen TOPMed gnomAD
rs1567911605 CA400867976	409	E>K		No	ClinGen Ensembl
CA400867991 rs1156784760	410	Q>H		No	ClinGen gnomAD
CA400867989 rs1420807868	410	Q>L		No	ClinGen gnomAD
rs1341243329 CA400868000	412	Q>K		No	ClinGen TOPMed
rs1567911613 CA400868013	413	H>L		No	ClinGen Ensembl
TCGA novel	413	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772647517 CA8739127	414	S>L		No	ClinGen ExAC gnomAD
rs776205397 CA8739128	416	Q>E		No	ClinGen ExAC gnomAD
RCV000350079 CA10606006 rs886043831	417	Q>*		No	ClinGen ClinVar dbSNP gnomAD
rs760231551 CA8739129	417	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs886043831 CA400868034	417	Q>K		No	ClinGen gnomAD
CA400868038 rs1347733578	417	Q>R		No	ClinGen gnomAD
CA8739131 rs763744617	418	I>M		No	ClinGen ExAC TOPMed gnomAD
CA400868046 rs1374439151	419	A>T		No	ClinGen gnomAD
RCV000413214 rs1057517827	421	S>missing		No	ClinVar dbSNP
TCGA novel	422	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	423	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1598176919 CA400868092	425	L>F		No	ClinGen Ensembl
CA400868105 rs201994187	427	H>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8739133 rs201994187	427	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8739134 rs750242391	428	Y>H		No	ClinGen ExAC gnomAD
CA400868117 rs1221019467	429	S>G		No	ClinGen TOPMed gnomAD
rs758181921 CA8739136 RCV000756681	429	S>R		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA10603927 RCV000323482 rs886042200	430	P>S		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA293784026 rs770400142	431	S>F		No	ClinGen Ensembl
CA400868152 rs1441332525	434	P>L		No	ClinGen TOPMed
CA8739138 rs202126529	435	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA400868160 rs1218723878	436	T>A		No	ClinGen TOPMed
CA400868167 rs1189441865	437	R>C		No	ClinGen TOPMed gnomAD
rs1189441865 CA400868166	437	R>G		No	ClinGen TOPMed gnomAD
rs1410903036 CA400868170	437	R>H		No	ClinGen gnomAD
rs1410903036 CA400868169	437	R>L		No	ClinGen gnomAD
rs1598176962 RCV001002558	438	S>missing		No	ClinVar dbSNP
TCGA novel	441	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746230444 CA8739143	441	D>G		No	ClinGen ExAC gnomAD
CA8739142 rs372158546	441	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs372158546 CA400868194	441	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs551719325 COSM983757 CA8739144	444	D>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA400868213 rs551719325	444	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	445	H>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776117304 CA293784107	446	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA293784102 rs887710359	446	Q>R		No	ClinGen Ensembl
TCGA novel	448	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400868251 rs1339956380	449	S>N		No	ClinGen TOPMed
CA8739146 rs747539655	450	S>C		No	ClinGen ExAC gnomAD
TCGA novel	451	Y>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768237701 CA8739147	453	S>N		No	ClinGen ExAC gnomAD
rs761310703 CA8739149	455	A>P		No	ClinGen ExAC gnomAD
rs1298811626 CA400868296	455	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs764925787 CA8739150	456	A>V		No	ClinGen ExAC gnomAD
CA8739152 rs375186985	457	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA8739151 rs772810129	457	G>S		No	ClinGen ExAC gnomAD
CA400868317 rs1298027378	459	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA400868314 rs1359136483	459	G>S		No	ClinGen TOPMed
rs749321589 CA8739155	461	G>S		No	ClinGen ExAC gnomAD
TCGA novel	466	F>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1421182389 CA400868357	466	F>L		No	ClinGen gnomAD
CA400868366 rs1567911726	467	T>A		No	ClinGen Ensembl
CA400868370 rs1451788454	467	T>I		No	ClinGen gnomAD
rs769269532 CA8739156	469	M>V		No	ClinGen ExAC TOPMed gnomAD
CA400868397 rs1370265316	471	P>S		No	ClinGen gnomAD
CA400868401 rs1336660139	472	A>T		No	ClinGen gnomAD
CA8739158 rs757341162	472	A>V		No	ClinGen ExAC
CA293784227 rs533961694	473	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
RCV000485037 rs1064796718 CA16620598	473	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
rs746125506 CA400868416	474	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs746125506 CA8739160	474	R>L		No	ClinGen ExAC gnomAD
rs1289718828 CA400868422	475	P>L		No	ClinGen gnomAD
CA400868428 rs1367603516	476	M>I		No	ClinGen gnomAD
CA400868424 rs1487296092	476	M>V		No	ClinGen TOPMed
TCGA novel	478	T>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1348267601 CA400868458	481	A>T		No	ClinGen gnomAD
rs865937701 CA293784253	482	D>N		No	ClinGen TOPMed gnomAD
CA8739164 rs769297621	483	T>N		No	ClinGen ExAC gnomAD
CA8739165 rs777058267	485	G>W		No	ClinGen ExAC gnomAD
rs1287394939 CA400868487	486	V>I		No	ClinGen TOPMed
rs1001505363 CA293784270	488	S>C		No	ClinGen Ensembl
rs1187474984 CA400868506	489	I>V		No	ClinGen gnomAD
rs769231694 CA8739167	490	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA400868513 rs1389968384	490	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA400868517 rs1208288758	491	Q>E		No	ClinGen TOPMed
CA8739170 rs189130850	494	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs774137173 CA8739171	495	P>L		No	ClinGen ExAC
rs759413061 CA8739172	497	H>R		No	ClinGen ExAC gnomAD
rs1319061093 CA400868594	501	P>L		No	ClinGen gnomAD
rs774375417 CA293784322	502	V>I		No	ClinGen TOPMed
TCGA novel	504	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	505	Q>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400868632 rs1278118990	507	T>S		No	ClinGen TOPMed
CA8739175 rs757337660	509	P>S		No	ClinGen ExAC gnomAD
TCGA novel	510	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

3 associated diseases with P48436

[MIM: 114290]: Campomelic dysplasia (CMD1)

A rare, often lethal, osteochondrodysplasia characterized by congenital bowing and angulation of long bones. Other skeletal defects include unusually small scapula, deformed pelvis and spine, and a missing pair of ribs. Craniofacial and ear defects are common. Most patients die soon after birth due to respiratory distress which has been attributed to hypoplasia of the tracheobronchial cartilage and small thoracic cage. Up to two-thirds of affected XY individuals have genital defects or may develop as phenotypic females. {ECO:0000269|PubMed:10446171, ECO:0000269|PubMed:10951468, ECO:0000269|PubMed:11323423, ECO:0000269|PubMed:11754051, ECO:0000269|PubMed:12783851, ECO:0000269|PubMed:19033726, ECO:0000269|PubMed:19921652, ECO:0000269|PubMed:20513132, ECO:0000269|PubMed:24038782, ECO:0000269|PubMed:7485151, ECO:0000269|PubMed:7990924, ECO:0000269|PubMed:8001137, ECO:0000269|PubMed:9002675, ECO:0000269|PubMed:9452059}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 278850]: 46,XX sex reversal 2 (SRXX2)

A condition in which male gonads develop in a genetic female (female to male sex reversal). {ECO:0000269|PubMed:21208124}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 616425]: 46,XY sex reversal 10 (SRXY10)

A disorder of sex development. Affected individuals have a 46,XY karyotype, show gonadal dysgenesis with streak gonads, look like normal females at birth, do not develop secondary sexual characteristics at puberty and do not menstruate. {ECO:0000269|PubMed:25604083}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A rare, often lethal, osteochondrodysplasia characterized by congenital bowing and angulation of long bones. Other skeletal defects include unusually small scapula, deformed pelvis and spine, and a missing pair of ribs. Craniofacial and ear defects are common. Most patients die soon after birth due to respiratory distress which has been attributed to hypoplasia of the tracheobronchial cartilage and small thoracic cage. Up to two-thirds of affected XY individuals have genital defects or may develop as phenotypic females. {ECO:0000269|PubMed:10446171, ECO:0000269|PubMed:10951468, ECO:0000269|PubMed:11323423, ECO:0000269|PubMed:11754051, ECO:0000269|PubMed:12783851, ECO:0000269|PubMed:19033726, ECO:0000269|PubMed:19921652, ECO:0000269|PubMed:20513132, ECO:0000269|PubMed:24038782, ECO:0000269|PubMed:7485151, ECO:0000269|PubMed:7990924, ECO:0000269|PubMed:8001137, ECO:0000269|PubMed:9002675, ECO:0000269|PubMed:9452059}. Note=The disease is caused by variants affecting the gene represented in this entry.
A condition in which male gonads develop in a genetic female (female to male sex reversal). {ECO:0000269|PubMed:21208124}. Note=The disease is caused by variants affecting the gene represented in this entry.
A disorder of sex development. Affected individuals have a 46,XY karyotype, show gonadal dysgenesis with streak gonads, look like normal females at birth, do not develop secondary sexual characteristics at puberty and do not menstruate. {ECO:0000269|PubMed:25604083}. Note=The disease is caused by variants affecting the gene represented in this entry.

2 regional properties for P48436

Type	Name	Position	InterPro Accession
domain	High mobility group box domain	104 - 174	IPR009071
domain	Sox developmental protein N-terminal	23 - 94	IPR022151

Functions

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

5 GO annotations of cellular component

Name	Definition
chromatin	The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
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.
protein-containing complex	A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.
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.

12 GO annotations of molecular function

Name	Definition
beta-catenin binding	Binding to a catenin beta subunit.
bHLH transcription factor binding	Binding to a basic Helix-Loop-Helix (bHLH) superfamily of transcription factors, important regulatory components in transcriptional networks of many developmental pathways.
chromatin binding	Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.
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 some RNA polymerase. The proximal promoter is in cis with and relatively close to the core promoter.
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	A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons.
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.
pre-mRNA intronic binding	Binding to an intronic sequence of a pre-messenger RNA (pre-mRNA).
protein kinase A catalytic subunit binding	Binding to one or both of the catalytic subunits of protein kinase A.
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.

137 GO annotations of biological process

Name	Definition
anterior head development	The process whose specific outcome is the progression of the anterior part of the head over time, from its formation to the mature structure.
aortic valve morphogenesis	The process in which the structure of the aortic valve is generated and organized.
astrocyte fate commitment	The commitment of a cells to a specific astrocyte fate and its restriction to develop only into an astrocyte.
bone mineralization	The deposition of hydroxyapatite, a form of calcium phosphate with the formula Ca10(PO4)6(OH)2, in bone tissue.
branching involved in ureteric bud morphogenesis	The process in which the branching structure of the ureteric bud is generated and organized. The ureteric bud is an epithelial tube that grows out from the metanephric duct. The bud elongates and branches to give rise to the ureter and kidney collecting tubules.
bronchus cartilage development	The process whose specific outcome is the progression of lung cartilage over time, from its formation to the mature structure. Cartilage is a connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate.
cAMP-mediated signaling	Any intracellular signal transduction in which the signal is passed on within the cell via cyclic AMP (cAMP). Includes production of cAMP, and downstream effectors that further transmit the signal within the cell.
canonical Wnt signaling pathway	The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes. In this pathway, the activated receptor signals via downstream effectors that result in the inhibition of beta-catenin phosphorylation, thereby preventing degradation of beta-catenin. Stabilized beta-catenin can then accumulate and travel to the nucleus to trigger changes in transcription of target genes.
cartilage condensation	The condensation of mesenchymal cells that have been committed to differentiate into chondrocytes.
cartilage development	The process whose specific outcome is the progression of a cartilage element over time, from its formation to the mature structure. Cartilage elements are skeletal elements that consist of connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate.
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.
cell proliferation involved in heart morphogenesis	The multiplication or reproduction of cells, resulting in the expansion of a cell population that contributes to the shaping of the heart.
cell-cell adhesion	The attachment of one cell to another cell via adhesion molecules.
cellular response to BMP stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a bone morphogenetic protein (BMP) stimulus.
cellular response to epidermal growth factor stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an epidermal growth factor stimulus.
cellular response to heparin	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a heparin stimulus.
cellular response to interleukin-1	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interleukin-1 stimulus.
cellular response to mechanical stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a mechanical stimulus.
cellular response to retinoic acid	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a retinoic acid stimulus.
cellular response to transforming growth factor beta stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a transforming growth factor beta stimulus.
chondrocyte differentiation	The process in which a chondroblast acquires specialized structural and/or functional features of a chondrocyte. A chondrocyte is a polymorphic cell that forms cartilage.
chondrocyte differentiation involved in endochondral bone morphogenesis	The process in which a chondroblast acquires specialized structural and/or functional features of a chondrocyte that will contribute to the development of a bone. A chondrocyte is a polymorphic cell that forms cartilage.
chondrocyte hypertrophy	The growth of a chondrocyte, where growth contributes to the progression of the chondrocyte over time.
chromatin remodeling	A dynamic process of chromatin reorganization resulting in changes to chromatin structure. These changes allow DNA metabolic processes such as transcriptional regulation, DNA recombination, DNA repair, and DNA replication.
cochlea morphogenesis	The process in which the cochlea is generated and organized.
cytoskeleton organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures.
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.
endocrine pancreas development	The process whose specific outcome is the progression of the endocrine pancreas over time, from its formation to the mature structure. The endocrine pancreas is made up of islet cells that produce insulin, glucagon and somatostatin.
epidermal growth factor receptor signaling pathway	The series of molecular signals initiated by binding of a ligand to the tyrosine kinase receptor EGFR (ERBB1) on the surface of a cell. The pathway ends with regulation of a downstream cellular process, e.g. transcription.
epithelial cell proliferation involved in prostatic bud elongation	The multiplication of epithelial cells, contributing to the expansion of the primary prostatic bud.
epithelial to mesenchymal transition	A transition where an epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell.
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.
ERK1 and ERK2 cascade	An intracellular protein kinase cascade containing at least ERK1 or ERK2 (MAPKs), a MEK (a MAPKK) and a MAP3K. The cascade may involve 4 different kinases, as it can also contain an additional tier: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell.
extracellular matrix assembly	The aggregation, arrangement and bonding together of the extracellular matrix.
glandular epithelial cell differentiation	The process in which a relatively unspecialized cell acquires specialized features of a glandular epithelial cell. A glandular epithelial cell is a columnar/cuboidal epithelial cell found in a two dimensional sheet with a free surface exposed to the lumen of a gland.
glial cell fate specification	The process in which a cell becomes capable of differentiating autonomously into a glial cell in an environment that is neutral with respect to the developmental pathway. Upon specification, the cell fate can be reversed.
growth plate cartilage chondrocyte growth	The growth of a growth plate cartilage chondrocyte, where growth contributes to the progression of the chondrocyte over time from one condition to another.
hair follicle development	The process whose specific outcome is the progression of the hair follicle over time, from its formation to the mature structure. A hair follicle is a tube-like opening in the epidermis where the hair shaft develops and into which the sebaceous glands open.
Harderian gland development	The process whose specific outcome is the progression of the Harderian gland over time, from its formation to the mature structure. The Harderian gland is an anterior orbital structure usually associated with the nictitating membrane, and produces and secretes a variety of substances to the eye, depending upon the species.
heart development	The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood.
heart valve development	The progression of a heart valve over time, from its formation to the mature structure. A heart valve is a structure that restricts the flow of blood to different regions of the heart and forms from an endocardial cushion.
heart valve formation	The developmental process pertaining to the initial formation of a heart valve from unspecified parts. This process begins with the specific processes that contribute to the appearance of the discrete structure and ends when the structural rudiment is recognizable.
heart valve morphogenesis	The process in which the structure of a heart valve is generated and organized.
intestinal epithelial cell differentiation	The process in which a relatively unspecialized cell acquires specialized features of a columnar/cuboidal epithelial cell of the intestine.
intestinal epithelial structure maintenance	A tissue homeostatic process required for the maintenance of the structure of the intestinal epithelium.
intrahepatic bile duct development	The progression of the intrahepatic bile ducts over time, from their formation to the mature structure. Intrahepatic bile ducts (bile ducts within the liver) collect bile from bile canaliculi in the liver, and connect to the extrahepatic bile ducts (bile ducts outside the liver).
lacrimal gland development	The process whose specific outcome is the progression of the lacrimal gland over time, from its formation to the mature structure. The lacrimal gland produces secretions that lubricate and protect the cornea of the eye.
limb bud formation	The process pertaining to the initial formation of a limb bud from unspecified parts. This process begins with the formation of a local condensation of mesenchyme cells within the prospective limb field, and ends when a limb bud is recognizable.
lung smooth muscle development	The process whose specific outcome is the progression of smooth muscle in the lung over time, from its formation to the mature structure.
male germ-line sex determination	The determination of sex and sexual phenotype in a male organism's germ line.
male gonad development	The process whose specific outcome is the progression of the male gonad over time, from its formation to the mature structure.
mammary gland development	The process whose specific outcome is the progression of the mammary gland over time, from its formation to the mature structure. The mammary gland is a large compound sebaceous gland that in female mammals is modified to secrete milk. Its development starts with the formation of the mammary line and ends as the mature gland cycles between nursing and weaning stages.
mesenchymal cell apoptotic process	Any apoptotic process in a mesenchymal cell. A mesenchymal cell is a loosely associated cell that is part of the connective tissue in an organism. Mesenchymal cells give rise to more mature connective tissue cell types.
mesenchymal cell proliferation	The multiplication or reproduction of cells, resulting in the expansion of a mesenchymal cell population. A mesenchymal cell is a cell that normally gives rise to other cells that are organized as three-dimensional masses, rather than sheets.
metanephric nephron tubule formation	The developmental process pertaining to the initial formation of a metanephric nephron tubule from unspecified parts. A metanephric nephron tubule is an epithelial tube that is part of a nephron in the metanephros.
morphogenesis of a branching epithelium	The process in which the anatomical structures of a branched epithelium are generated and organized.
morphogenesis of an epithelium	The process in which the anatomical structures of epithelia are generated and organized. An epithelium consists of closely packed cells arranged in one or more layers, that covers the outer surfaces of the body or lines any internal cavity or tube.
negative regulation of apoptotic process	Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process.
negative regulation of beta-catenin-TCF complex assembly	Any process that stops, prevents or reduces the frequency, rate or extent of beta-catenin-TCF complex assembly.
negative regulation of biomineral tissue development	Any process that stops, prevents, or reduces the frequency, rate or extent of biomineral tissue development, the formation of hard tissues that consist mainly of inorganic compounds.
negative regulation of bone mineralization	Any process that stops, prevents, or reduces the frequency, rate or extent of bone mineralization.
negative regulation of canonical Wnt signaling pathway	Any process that decreases the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes.
negative regulation of chondrocyte differentiation	Any process that stops, prevents, or reduces the frequency, rate or extent of chondrocyte differentiation.
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 epithelial cell differentiation	Any process that stops, prevents, or reduces the frequency, rate or extent of epithelial cell differentiation.
negative regulation of epithelial cell proliferation	Any process that stops, prevents or reduces the rate or extent of epithelial cell proliferation.
negative regulation of fatty acid oxidation	Any process that stops, prevents, or reduces the frequency, rate or extent of fatty acid oxidation.
negative regulation of gene expression	Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
negative regulation of immune system process	Any process that stops, prevents, or reduces the frequency, rate, or extent of an immune system process.
negative regulation of mesenchymal cell apoptotic process	Any process that stops, prevents or reduces the frequency, rate or extent of mesenchymal cell apoptotic process.
negative regulation of miRNA transcription	Any process that stops, prevents or reduces the frequency, rate or extent of microRNA (miRNA) gene transcription.
negative regulation of myoblast differentiation	Any process that stops, prevents, or reduces the frequency, rate or extent of myoblast differentiation. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers.
negative regulation of ossification	Any process that stops, prevents, or reduces the frequency, rate or extent of ossification, the formation of bone or of a bony substance or the conversion of fibrous tissue or of cartilage into bone or a bony substance.
negative regulation of osteoblast differentiation	Any process that stops, prevents, or reduces the frequency, rate or extent of osteoblast differentiation.
negative regulation of photoreceptor cell differentiation	Any process that stops, prevents, or reduces the frequency, rate or extent of photoreceptor cell differentiation. An example of this process is found in Drosophila melanogaster.
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.
neural crest cell development	The process aimed at the progression of a neural crest cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell.
neural crest cell fate specification	The process in which a cell becomes capable of differentiating autonomously into a neural crest cell in an environment that is neutral with respect to the developmental pathway; upon specification, the cell fate can be reversed.
neuron fate specification	The process in which a cell becomes capable of differentiating autonomously into a neuron in an environment that is neutral with respect to the developmental pathway. Upon specification, the cell fate can be reversed.
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.
notochord development	The process whose specific outcome is the progression of the notochord over time, from its formation to the mature structure. The notochord is a mesoderm-derived structure located ventral of the developing nerve cord. In vertebrates, the notochord serves as a core around which other mesodermal cells form the vertebrae. In the most primitive chordates, which lack vertebrae, the notochord persists as a substitute for a vertebral column.
nucleosome assembly	The aggregation, arrangement and bonding together of a nucleosome, the beadlike structural units of eukaryotic chromatin composed of histones and DNA.
oligodendrocyte differentiation	The process in which a relatively unspecialized cell acquires the specialized features of an oligodendrocyte. An oligodendrocyte is a type of glial cell involved in myelinating the axons of neurons in the central nervous system.
otic vesicle formation	The process resulting in the transition of the otic placode into the otic vesicle, a transient embryonic structure formed during development of the vertebrate inner ear.
positive regulation of branching involved in ureteric bud morphogenesis	Any process that increases the rate, frequency or extent of branching involved in ureteric bud morphogenesis, the process in which the branching structure of the ureteric bud is generated and organized. The ureteric bud is an epithelial tube that grows out from the metanephric duct. The bud elongates and branches to give rise to the ureter and kidney collecting tubules.
positive regulation of cartilage development	Any process that increases the rate, frequency, or extent of cartilage development, the process whose specific outcome is the progression of the cartilage over time, from its formation to the mature structure. Cartilage is a connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate.
positive regulation of cell population proliferation	Any process that activates or increases the rate or extent of cell proliferation.
positive regulation of cell proliferation involved in heart morphogenesis	Any process that activates or increases the frequency, rate or extent of cell proliferation involved in heart morphogenesis.
positive regulation of chondrocyte differentiation	Any process that activates or increases the frequency, rate or extent of chondrocyte differentiation.
positive regulation of chondrocyte proliferation	Any process that increases the frequency, rate or extent of the multiplication or reproduction of chondrocytes by cell division, resulting in the expansion of their population. A chondrocyte is a polymorphic cell that forms cartilage.
positive regulation of DNA-templated transcription	Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
positive regulation of epithelial cell differentiation	Any process that activates or increases the frequency, rate or extent of epithelial cell differentiation.
positive regulation of epithelial cell migration	Any process that activates or increases the frequency, rate or extent of epithelial cell migration.
positive regulation of epithelial cell proliferation	Any process that activates or increases the rate or extent of epithelial cell proliferation.
positive regulation of extracellular matrix assembly	Any process that activates or increases the frequency, rate or extent of extracellular matrix assembly.
positive regulation of gene expression	Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
positive regulation of kidney development	Any process that increases the rate, frequency or extent of kidney development. Kidney development is the process whose specific outcome is the progression of the kidney over time, from its formation to the mature structure. The kidney is an organ that filters the blood and excretes the end products of body metabolism in the form of urine.
positive regulation of male gonad development	Any process that activates or increases the frequency, rate or extent of male gonad development.
positive regulation of mesenchymal cell proliferation	The process of activating or increasing the rate or extent of mesenchymal cell proliferation. Mesenchymal cells are loosely organized embryonic cells.
positive regulation of mesenchymal stem cell differentiation	Any process that activates or increases the frequency, rate or extent of mesenchymal stem cell differentiation.
positive regulation of phosphatidylinositol 3-kinase signaling	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the phosphatidylinositol 3-kinase cascade.
positive regulation of protein catabolic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds.
positive regulation of protein phosphorylation	Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein.
positive regulation of stem cell proliferation	Any process that activates or increases the frequency, rate or extent of stem cell proliferation.
positive regulation of transcription by RNA polymerase II	Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
prostate gland development	The process whose specific outcome is the progression of the prostate gland over time, from its formation to the mature structure. The prostate gland is a partly muscular, partly glandular body that is situated near the base of the mammalian male urethra and secretes an alkaline viscid fluid which is a major constituent of the ejaculatory fluid.
protein kinase B signaling	A series of reactions, mediated by the intracellular serine/threonine kinase protein kinase B (also called AKT), which occurs as a result of a single trigger reaction or compound.
protein localization to nucleus	A process in which a protein transports or maintains the localization of another protein to the nucleus.
protein phosphorylation	The process of introducing a phosphate group on to a protein.
protein-containing complex assembly	The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex.
regulation of apoptotic process	Any process that modulates the occurrence or rate of cell death by apoptotic process.
regulation of branching involved in lung morphogenesis	Any process that modulates the rate, frequency, or extent of the process in which a highly ordered sequence of patterning events generates the branched structures of the lung, consisting of reiterated combinations of bud outgrowth, elongation, and dichotomous subdivision of terminal units.
regulation of cell adhesion	Any process that modulates the frequency, rate or extent of attachment of a cell to another cell or to the extracellular matrix.
regulation of cell cycle process	Any process that modulates a cellular process that is involved in the progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events.
regulation of cell population proliferation	Any process that modulates the frequency, rate or extent of cell proliferation.
regulation of cell proliferation involved in tissue homeostasis	Any process that modulates the frequency, rate or extent of cell proliferation resulting in the maintenance of a steady-state number of cells within a tissue.
regulation of epithelial cell proliferation involved in lung morphogenesis	Any process that modulates the frequency, rate or extent of epithelial cell proliferation involved in lung morphogenesis.
regulation of transcription by RNA polymerase II	Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.
renal vesicle induction	Signaling at short range between cells of the ureteric bud terminus and the kidney mesenchyme that positively regulates the formation of the renal vesicle.
response to fatty 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 fatty acid stimulus.
response to organic cyclic compound	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 an organic cyclic compound stimulus.
retina development in camera-type eye	The process whose specific outcome is the progression of the retina over time, from its formation to the mature structure. The retina is the innermost layer or coating at the back of the eyeball, which is sensitive to light and in which the optic nerve terminates.
retinal rod cell differentiation	The process in which a relatively unspecialized cell acquires the specialized features of a retinal rod cell.
Sertoli cell development	The process whose specific outcome is the progression of a Sertoli cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a Sertoli cell fate.
Sertoli cell differentiation	The process in which a relatively unspecialized cell acquires specialized structural and/or functional features of a Sertoli cell. A Sertoli cell is a supporting cell projecting inward from the basement membrane of seminiferous tubules.
signal transduction	The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.
skeletal system development	The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton).
somatic stem cell population maintenance	Any process by which an organism retains a population of somatic stem cells, undifferentiated cells in the embryo or adult which can undergo unlimited division and give rise to cell types of the body other than those of the germ-line.
spermatogenesis	The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa.
stem cell proliferation	The multiplication or reproduction of stem cells, resulting in the expansion of a stem cell population. A stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells.
tissue homeostasis	A homeostatic process involved in the maintenance of an internal steady state within a defined tissue of an organism, including control of cellular proliferation and death and control of metabolic function.
trachea cartilage development	The process whose specific outcome is the progression of the tracheal cartilage over time, from its formation to the mature structure. Cartilage is a connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate.
transcription by RNA polymerase II	The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs).
type I pneumocyte differentiation	The process in which a relatively unspecialized cell acquires specialized features of a type I pneumocyte. A type I pneumocyte is a flattened cell with greatly attenuated cytoplasm and a paucity of organelles.
ureter morphogenesis	The process in which the anatomical structures of the ureter are generated and organized. The ureter is a muscular tube that transports urine from the kidney to the urinary bladder.
ureter smooth muscle cell differentiation	The process in which a relatively unspecialized cell acquires specialized features of a smooth muscle cell in the ureter.
ureter urothelium development	The process whose specific outcome is the progression of the urothelium of the ureter over time, from its formation to the mature structure. The urothelium is an epithelium that makes up the epithelial tube of the ureter.

14 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P48435	SOX11	Transcription factor SOX-11	Gallus gallus (Chicken)	SS
O94993	SOX30	Transcription factor SOX-30	Homo sapiens (Human)	PR
P35716	SOX11	Transcription factor SOX-11	Homo sapiens (Human)	EV
O15370	SOX12	Transcription factor SOX-12	Homo sapiens (Human)	SS
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
Q04887	Sox9	Transcription factor SOX-9	Mus musculus (Mouse)	PR
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
Q6F2E7	sox9	Transcription factor Sox-9	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR

10	20	30	40	50	60
MNLLDPFMKM	TDEQEKGLSG	APSPTMSEDS	AGSPCPSGSG	SDTENTRPQE	NTFPKGEPDL
70	80	90	100	110	120
KKESEEDKFP	VCIREAVSQV	LKGYDWTLVP	MPVRVNGSSK	NKPHVKRPMN	AFMVWAQAAR
130	140	150	160	170	180
RKLADQYPHL	HNAELSKTLG	KLWRLLNESE	KRPFVEEAER	LRVQHKKDHP	DYKYQPRRRK
190	200	210	220	230	240
SVKNGQAEAE	EATEQTHISP	NAIFKALQAD	SPHSSSGMSE	VHSPGEHSGQ	SQGPPTPPTT
250	260	270	280	290	300
PKTDVQPGKA	DLKREGRPLP	EGGRQPPIDF	RDVDIGELSS	DVISNIETFD	VNEFDQYLPP
310	320	330	340	350	360
NGHPGVPATH	GQVTYTGSYG	ISSTAATPAS	AGHVWMSKQQ	APPPPPQQPP	QAPPAPQAPP
370	380	390	400	410	420
QPQAAPPQQP	AAPPQQPQAH	TLTTLSSEPG	QSQRTHIKTE	QLSPSHYSEQ	QQHSPQQIAY
430	440	450	460	470	480
SPFNLPHYSP	SYPPITRSQY	DYTDHQNSSS	YYSHAAGQGT	GLYSTFTYMN	PAQRPMYTPI
490	500
ADTSGVPSIP	QTHSPQHWEQ	PVYTQLTRP