AiPD: Autoinhibited Protein Database

Q16394

Gene name	EXT1
Protein name	Exostosin-1
Names	Glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase, Multiple exostoses protein 1, Putative tumor suppressor protein EXT1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:2131
EC number	2.4.1.225: Hexosyltransferases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-73 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-73 (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

7 structures for Q16394

Entry ID	Method	Resolution	Chain	Position	Source
7SCH	EM	310 A	A	28-746	PDB
7SCJ	EM	340 A	A	28-746	PDB
7SCK	EM	280 A	A	28-746	PDB
7UQX	EM	330 A	A	28-746	PDB
7UQY	EM	300 A	A	28-746	PDB
7ZAY	EM	280 A	A	29-746	PDB
AF-Q16394-F1	Predicted				AlphaFoldDB

753 variants for Q16394

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001038425 RCV003152746 rs1817895168	2	Q>*	Multiple congenital exostosis Exostoses, multiple, type 1 [ClinVar]	Yes	ClinVar dbSNP
rs1817893887 RCV001062963	16	C>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
rs1817893321 RCV001235105	20	L>F	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
rs764093488 RCV001218625	22	Y>*	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV002290596 rs1817893036 RCV001092146 RCV001253631	24	G>*	Multiple congenital exostosis Exostoses, multiple, type 1 [ClinVar]	Yes	ClinVar dbSNP
rs1817893036 RCV001317028	24	G>R	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
CA4854431 rs765050783 RCV001067428	25	G>D	Multiple congenital exostosis [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001218914 rs1817892723	27	Q>*	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
VAR_012815	27	Q>K	EXT1; no loss of activity [UniProt]	Yes	UniProt
RCV000704322 rs1563659821	35	S>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV000821360 rs1586280235	38	E>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV001214528 RCV001008115 rs1586280217	39	E>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV001223750 rs1817891356	39	E>*	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV001205167 RCV000120870 CA159089 RCV001356540 rs199862937	41	S>N	Multiple congenital exostosis [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001205071 rs1817890492	44	N>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV000268096 rs772811741 CA4854410 RCV002058697	50	S>G	Multiple congenital exostosis Hereditary Multiple Osteochondromatosis [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000791243 CA371916457 rs1586280132	55	W>*	Exostoses, multiple, type 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001058439 rs1817889027	59	P>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV001337881 rs187891947 CA4854401	63	R>L	Multiple congenital exostosis [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001293877 rs1242925512	66	V>A	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
rs1817887343 RCV001055562	70	Q>*	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
CA4854395 rs150818931 RCV000822823	72	E>K	Multiple congenital exostosis [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1554601568 RCV000630811	73	N>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
rs1554601559 RCV001214827 RCV002509632 RCV000598686 RCV001225072	83	R>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
rs1817885411 RCV001051975	89	N>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
rs1586279952 RCV000809663	93	Y>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
CA371916215 rs1227875610 RCV000630816	93	Y>*	Multiple congenital exostosis [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1563659649 RCV000688480	95	G>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
rs1817884791 RCV001038953	96	K>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV001204281 rs1817884837	96	K>*	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
rs1817884143 RCV001323877	106	F>L	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
CA4854376 rs750116273 RCV001344379	113	G>S	Multiple congenital exostosis [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA4854375 rs146127753 RCV001349512	115	K>R	Multiple congenital exostosis [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001057241 rs982804750	117	Y>*	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV002468956 RCV000002605 rs119103289 CA252312	119	Y>*	Exostoses, multiple, type 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1817882619 RCV001237679	121	Q>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV000800416 rs1586279835 CA371916015	122	Q>*	Multiple congenital exostosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001218830 rs1817881036	134	I>*	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
rs1817880635 RCV001065943	141	S>F	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV001262404 rs1188458258 CA371915873	143	F>S	Multiple congenital exostosis [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000579269 rs1554601534 CA371915806 RCV001382617	152	C>*	Multiple congenital exostosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001348233 rs1817879832	153	L>P	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
rs1817879250 RCV001203274	163	R>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV001054847 RCV002469332 rs1817879125	164	D>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
VAR_012816	164	D>H	EXT1; loss of activity [UniProt]	Yes	UniProt
RCV001308665 rs1227559201	167	S>P	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
rs1817878703 RCV001062230	173	N>*	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV000585681 rs1554601526	173	N>*	Exostoses, multiple, type 1 [ClinVar]	Yes	ClinVar dbSNP
rs1817878624 RCV001161575	173	N>S	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
rs587776540 RCV000002603	177	K>missing	Chondrosarcoma [ClinVar]	Yes	ClinVar dbSNP
rs1554601525 RCV000630805	179	Q>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
CA10588453 RCV000255895 rs886039561 RCV001859483	179	Q>*	Multiple congenital exostosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000686140 rs1563659474	181	L>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV000254961 RCV002494802 RCV000538727 rs886039486	181	L>missing	Multiple congenital exostosis Chondrosarcoma [ClinVar]	Yes	ClinVar dbSNP
CA371915566 RCV001346735 rs775696069	188	R>K	Multiple congenital exostosis [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1817877271 RCV001197122	188	R>S	Chondrosarcoma [ClinVar]	Yes	ClinVar dbSNP
rs1817877229 RCV001231974	189	N>KY	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
rs1817877188 RCV001222709	190	H>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV000685852 CA371915543 rs1563659467	191	L>S	Multiple congenital exostosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001222710 rs1817877044	192	I>N	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV000798252 CA371915512 rs1586279621	195	L>*	Multiple congenital exostosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1817876363 RCV001202505	198	G>V	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV001342155 rs1817876310	199	T>A	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
rs1817876148 RCV001315728	200	W>C	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV000553496 rs1554601502	200	W>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
rs1817876107 RCV001320381	203	Y>S	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
rs1586279544 RCV000796238	215	M>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
rs1586279535 RCV000816812	215	M>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
VAR_012817	215	M>del	EXT1 [UniProt]	Yes	UniProt
RCV001234049 rs1817874249	217	A>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV000630810 rs1554601504	218	K>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
rs1554601507 RCV000630803	218	K>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV001239862 rs1817873963	218	K>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV001868152 RCV000622308 rs1554601506 CA371915346	220	S>G	Multiple congenital exostosis Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1817873681 RCV001228250	225	N>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
rs1817873582 RCV001205362	227	R>*	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
rs1817873443 RCV001238798	229	N>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV001060530 rs1817873196	231	D>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV001223208 rs1817872999	233	S>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV001049881 rs1817872132	250	F>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
rs1436385815 RCV001161574 CA371915120	253	F>L	Multiple congenital exostosis [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001226699 rs1817871592	257	P>S	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV001208454 rs1817871338	260	R>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV000690444 rs1563659352	266	F>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
rs886039352 RCV001859476 RCV000255528 CA10588451	268	G>E	Multiple congenital exostosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001857953 RCV000520277 rs1554601492 CA371915018 RCV001066050	268	G>R	Multiple congenital exostosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001246271 rs1817870176	273	T>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
rs1817870237 RCV001244194	274	G>*	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
rs1554601483 CA371914946 RCV000630813 VAR_002370	280	R>G	Multiple congenital exostosis EXT1; loss of activity [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000699208 VAR_002371 RCV003126909 CA371914941 rs1563659325	280	R>S	Multiple congenital exostosis EXT1; loss of activity [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA371914943 RCV000819148 rs1586279403	280	R>T	Multiple congenital exostosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1554601481 RCV000630814	283	L>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
CA16605945 RCV000800945 rs1057520608 RCV000440581	284	Y>*	Multiple congenital exostosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000692334 rs1554601476 RCV000482528	285	H>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV001225381 rs759708614	290	E>*	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
CA184682407 RCV001293878 RCV002543022 rs372750330	291	D>E	Multiple congenital exostosis Chondrosarcoma [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA371914861 RCV000798952 rs1586279359	292	V>F	Multiple congenital exostosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1817868656 RCV001061059	297	T>S	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV001233740 rs1817868370	304	W>*	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV001069596 CA371914771 RCV000578854 rs1554601474	305	Q>*	Multiple congenital exostosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1817867776 RCV001039947	312	C>R	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV001070951 rs1817867722	312	C>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
CA4854299 RCV001299997 rs748945641	317	T>S	Multiple congenital exostosis [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1586279297 CA371914665 RCV000791680	319	Y>*	Multiple congenital exostosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1817866954 RCV001204040	321	K>*	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV000693405 rs1563575697	330	N>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV000531791 CA371893338 rs1554580153	331	A>D	Multiple congenital exostosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1587004341 CA371893320 RCV000794686	334	C>R	Multiple congenital exostosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001060732 rs1812200901	337	P>R	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
CA252310 RCV000002604 rs119103288 VAR_002372 RCV001003501	339	G>D	Multiple congenital exostosis Exostoses, multiple, type 1 EXT1; loss of activity [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_002373 RCV000255752 rs119103290 RCV002512681 RCV000002606 RCV001003500 CA252315	340	R>C	Multiple congenital exostosis Inborn genetic diseases Exostoses, multiple, type 1 EXT1; loss of activity; still able to form an oligomeric complex [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs119103290 RCV002537726 RCV001270018	340	R>G	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
VAR_002374 RCV000254839 rs119103287 CA4854266 RCV000630812 RCV001263553	340	R>H	Multiple congenital exostosis Exostoses, multiple, type 1 EXT1; loss of activity [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
VAR_002375 rs119103287 CA252308 RCV001003502 RCV000002601	340	R>L	Multiple congenital exostosis Exostoses, multiple, type 1 EXT1; loss of activity [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
VAR_002376	340	R>S	EXT1; loss of activity [UniProt]	Yes	UniProt
CA371893286 RCV000520455 RCV000799887 rs1554580149	341	R>G	Multiple congenital exostosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001206165 RCV000520066 rs1554580149 CA371893285	341	R>W	Multiple congenital exostosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA371893255 rs1554580147 RCV000630808	346	R>G	Multiple congenital exostosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001058445 rs1812200035	346	R>I	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
rs1812199676 RCV001230822	352	Q>H	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
CA371892751 rs11546829 RCV000692001	355	C>*	Multiple congenital exostosis [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA371892785 RCV000813609 rs1587003655	355	C>R	Multiple congenital exostosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV003153565 RCV000307037 CA4854241 rs61753260 RCV000827733	356	V>I	Multiple congenital exostosis Exostoses, multiple, type 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA371892714 rs1131691337 RCV001856960 RCV000494520	357	P>R	Multiple congenital exostosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1812174128 RCV001046704	370	E>*	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV000877899 RCV001655634 CA4854235 rs142122090	373	N>D	Multiple congenital exostosis [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1812173838 RCV001051617	376	Q>*	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV000120872 CA159095 RCV001304404 rs371233961	379	V>I	Multiple congenital exostosis [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1812173037 RCV001211165	384	R>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
rs1812078315 RCV001039109	390	P>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV001050372 rs561006425	398	Q>*	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV001008755 rs1369118661 RCV001386491	405	R>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
rs1812077443 RCV001315934	405	R>T	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
rs1812077295 RCV001225043	407	Q>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV001071268 rs1812077342	407	Q>*	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
rs1812076996 RCV001224854	412	W>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
rs1812076915 RCV001246657	412	W>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV000805681 rs1587001428 CA371890319 RCV001662836	412	W>*	Multiple congenital exostosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000270757 CA4854201 rs756701753	413	E>D	Multiple congenital exostosis [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1812075737 RCV001045567	427	L>P	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV000432157 rs773539946 RCV001214391 CA4854193 RCV002522378	427	L>V	Multiple congenital exostosis Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001235920 rs1811943921	431	Q>*	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
CA371888043 RCV001216058 rs1563571318 RCV000688370	439	S>*	Multiple congenital exostosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs144550328 CA4854168 RCV000630804	440	R>H	Multiple congenital exostosis [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1811942900 RCV001211728	441	N>*	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
rs1811942574 RCV001222439	445	W>*	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
rs1563571296 RCV000781341	446	N>HVTV*	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
rs1811942159 RCV001208183	450	G>E	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
rs1811942117 RCV001237964	451	G>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
rs1430395411 RCV001208184	451	G>E	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV000315374 RCV000120873 rs201504622 RCV001355602 CA159098 RCV000395683	454	V>I	Multiple congenital exostosis Variant assessed as Somatic; 0.0 impact. Langer-Giedion syndrome [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1811940928 RCV001217177	467	Y>*	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV001207817 rs1811941012	467	Y>*	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV000539518 rs1554579004	468	Y>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV001224323 rs1811940837	468	Y>*	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV001056978 rs1811940788	469	Y>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
rs1811893325 RCV001070256	474	L>*	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV000120874 CA159101 rs145720047 RCV002515864	477	P>R	Multiple congenital exostosis [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001218340 RCV001773489 rs1554578798 RCV002267737 RCV000627404 RCV000554263	478	S>missing	Multiple congenital exostosis Chondrosarcoma [ClinVar]	Yes	ClinVar dbSNP
rs1811892597 RCV001261514	481	T>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
rs763107867 RCV001208156 CA4854136	484	I>F	Multiple congenital exostosis [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000120875 rs188859975 RCV001252925 RCV001343250 CA159104 VAR_012821	486	A>V	Multiple congenital exostosis Microcephaly EXT1; no loss of activity [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA184282892 rs759514310 RCV000810259	488	T>N	Multiple congenital exostosis [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002487173 RCV000255218 RCV000697332 RCV000821985 RCV000309326 rs886039355	490	L>missing	Chondrosarcoma Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV000255784 RCV000702125 RCV001003498 rs886039356	490	L>missing	Multiple congenital exostosis Exostoses, multiple, type 1 [ClinVar]	Yes	ClinVar dbSNP
RCV001237335 rs1811890821	493	Q>*	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
VAR_012822	496	P>L	EXT1; no loss of activity [UniProt]	Yes	UniProt
rs1383256196 RCV001225753	512	Q>*	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
rs1811889486 RCV001239646	512	Q>H	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV001199164 RCV001528142 rs1811865335	517	W>*	Multiple congenital exostosis Chondrosarcoma [ClinVar]	Yes	ClinVar dbSNP
RCV001057357 rs1811864784	523	L>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
CA371883259 rs1563569983 RCV000686425	526	K>*	Multiple congenital exostosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs763608530 RCV001267058	529	W>*	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
rs1811863055 RCV001235218	540	E>*	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV001232587 rs1823353089	552	P>*	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV002471030 RCV001069870 rs1823353269	553	Y>missing	Multiple congenital exostosis Exostoses, multiple, type 1 [ClinVar]	Yes	ClinVar dbSNP
rs1586993159 RCV000002608	555	N>missing	Exostoses, multiple, type 1 [ClinVar]	Yes	ClinVar dbSNP
rs1823352329 RCV001042295	560	A>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
rs1823352107 RCV001205555	561	V>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV001236932 rs1823351882	561	V>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV001225197 rs1586993117	566	E>*	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV001236310 rs1554657927 RCV000598655	568	T>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
rs1823350888 RCV001061701	573	T>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
CA371878593 rs1586990402 RCV000816960	582	W>*	Multiple congenital exostosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA371878588 rs1586990398 RCV001226441 RCV001008654	582	W>*	Multiple congenital exostosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs575895733 RCV001158361 CA4854018	583	Q>H	Multiple congenital exostosis [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001061818 rs1823254644	589	I>V	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV001050119 rs1823254431	591	G>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV000991070 rs1586990361	592	Y>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV001059425 rs1823254238	592	Y>*	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
rs374887549 CA4854013 RCV001165074	594	A>G	Multiple congenital exostosis [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001069092 rs1823253698	599	W>*	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV001048915 rs1718310043	599	W>*	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV001233427 rs1823253516	603	K>*	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV000691886 rs1554657437 RCV000578934 CA371878224	604	E>*	Multiple congenital exostosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001269357 rs755747479 RCV002541642	605	R>Q	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV001326783 rs146967463 CA4854009 COSM1095371	605	R>W	Multiple congenital exostosis Variant assessed as Somatic; 0.0 impact. endometrium [ClinVar, NCI-TCGA, Cosmic]	Yes	ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000820160 rs1586990317 CA371878191	606	W>*	Multiple congenital exostosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1823253080 RCV001045430	606	W>*	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV001227957 rs1823253013	607	G>*	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV001226097 rs1563873580	616	Y>*	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
rs1823251698 RCV001298919	623	A>T	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV001229892 CA4853998 rs773393953 RCV002484253	625	I>V	Multiple congenital exostosis Chondrosarcoma Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA10588446 RCV000254878 rs886039357 RCV001223213	626	Y>*	Multiple congenital exostosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_002377	627	H>del	EXT1; loss of activity [UniProt]	Yes	UniProt
RCV001217974 rs1823215251	629	Y>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
rs1823215172 RCV001040983	630	Y>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV000803549 rs1586989220 CA371877624	637	Y>*	Multiple congenital exostosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001207642 rs1823214768	642	L>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
rs1823214606 RCV001317044	646	V>L	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV000816709 rs1586989202	648	Q>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV001030025 rs1586989189	651	N>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV001205936 rs1823213816	656	L>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV001242679 rs1823213767	657	M>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
CA371876991 RCV000494661 RCV001384344 rs1131692020	667	L>*	Multiple congenital exostosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1563872934 RCV000705577	669	P>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
rs1823212809 RCV001054605	676	K>*	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
rs1823212774 RCV001221028	677	Q>*	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV001034929 rs1823212594	682	M>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV001217392 rs1823212414	685	Q>*	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
RCV000630818 rs1554656288	687	S>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
rs746678682 CA4853948 RCV000988111	691	R>H	Exostoses, multiple, type 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001197708 rs1823138986	693	A>missing	Chondrosarcoma [ClinVar]	Yes	ClinVar dbSNP
CA371890190 rs1363815113 RCV000579207 RCV000630806	701	R>*	Multiple congenital exostosis Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar NCI-TCGA dbSNP gnomAD
rs1554656266 CA371890173 RCV000630815	702	Q>*	Multiple congenital exostosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001221029 rs1823137578	705	M>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
rs1823137520 RCV001228610	707	T>missing	Multiple congenital exostosis [ClinVar]	Yes	ClinVar dbSNP
CA236312 RCV001057521 RCV000171418 rs786205593	711	W>*	Multiple congenital exostosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000988110 CA371889969 rs1225915837	715	M>V	Exostoses, multiple, type 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA371889917 rs751787859 RCV001303794	719	H>P	Multiple congenital exostosis [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA371889904 RCV001165073 rs1373349863 RCV003163361	720	S>C	Multiple congenital exostosis Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1188494289 RCV001338785 CA371889721	732	Q>R	Multiple congenital exostosis [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs770545182 CA4854449	3	A>S		No	ClinGen ExAC gnomAD
TCGA novel	4	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1266937798 CA371916792	4	K>Q		No	ClinGen gnomAD
rs61757381 CA184682608	4	K>R		No	ClinGen gnomAD
rs759834555	5	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1226048368 CA371916786	5	K>Q		No	ClinGen gnomAD
CA4854447 rs200815125	6	R>L		No	ClinGen ExAC gnomAD
CA371916774 rs200815125	6	R>P		No	ClinGen ExAC gnomAD
rs1586280365 CA371916769	7	Y>C		No	ClinGen Ensembl
rs772883826 CA4854446	9	I>F		No	ClinGen ExAC TOPMed gnomAD
CA4854445 rs769143352	11	L>V		No	ClinGen ExAC
CA4854443 rs780457793	12	S>L		No	ClinGen ExAC gnomAD
CA371916732 rs1291059341	13	A>G		No	ClinGen gnomAD
rs915340058 CA184682595	15	S>C		No	ClinGen TOPMed gnomAD
CA4854439 rs545138851	16	C>F		No	ClinGen 1000Genomes ExAC gnomAD
rs751570075 CA4854435	19	L>F		No	ClinGen ExAC TOPMed gnomAD
RCV000483890 CA16618593 rs1064795778	21	F>*		No	ClinGen ClinVar Ensembl dbSNP
rs142281281 CA184682588	22	Y>H		No	ClinGen Ensembl
CA4854433 rs200276819	23	F>L		No	ClinGen ExAC TOPMed gnomAD
CA371916659 rs1306372997	24	G>V		No	ClinGen gnomAD
rs752644731 CA4854432	25	G>R		No	ClinGen ExAC TOPMed gnomAD
rs533027765 CA4854430	30	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA4854428 rs766091879	31	S>L		No	ClinGen ExAC gnomAD
CA4854427 CA184682578 rs147654656	33	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4854424 rs749767023	34	H>R		No	ClinGen ExAC gnomAD
rs771543794 CA4854425	34	H>Y		No	ClinGen ExAC gnomAD
CA371916588 rs775906242	35	S>R		No	ClinGen ExAC TOPMed gnomAD
rs746188012 CA4854421	36	R>L		No	ClinGen ExAC TOPMed gnomAD
CA371916586 rs746188012	36	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA4854422 rs770352704	36	R>W		No	ClinGen ExAC TOPMed gnomAD
CA4854419 rs757411850	37	R>K		No	ClinGen ExAC TOPMed gnomAD
rs794726874 RCV000173067 CA238557	38	E>G		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA4854418 rs747288908	38	E>Q		No	ClinGen ExAC gnomAD
CA371916566 rs78429222	39	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1186563531 CA371916550	41	S>R		No	ClinGen gnomAD
CA4854414 rs754998142	42	G>D		No	ClinGen ExAC TOPMed gnomAD
CA4854415 rs368382074	42	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA371916543 rs1199393037	43	R>K		No	ClinGen gnomAD
CA371916540 rs1482036956	43	R>S		No	ClinGen gnomAD
rs1182285664 CA371916538	44	N>D		No	ClinGen TOPMed
CA371916534 rs1586280182	44	N>S		No	ClinGen Ensembl
TCGA novel	45	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1052157677 CA184682562	47	H>D		No	ClinGen TOPMed gnomAD
CA4854411 rs150846666	49	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs761175866 CA371916487	51	P>L		No	ClinGen ExAC gnomAD
CA4854408 rs761175866	51	P>R		No	ClinGen ExAC gnomAD
rs375138320 CA4854409	51	P>S		No	ClinGen ESP ExAC gnomAD
rs371717237 CA4854407	52	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1390552631 CA371916472	53	H>Q		No	ClinGen TOPMed
rs770218370 CA4854406	54	F>L		No	ClinGen ExAC TOPMed gnomAD
CA371916462 rs1187165813	55	W>G		No	ClinGen TOPMed gnomAD
rs368004125 CA4854405	56	P>S		No	ClinGen ESP ExAC gnomAD
CA184682551 rs995965831	57	R>P		No	ClinGen Ensembl
CA184682545 rs142365518	61	A>P		No	ClinGen ESP TOPMed
CA4854403 rs373794512	62	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs187891947 CA184682542	63	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4854402 rs187891947	63	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4854399 rs748138510	64	P>L		No	ClinGen ExAC gnomAD
rs772363578 CA4854400	64	P>S		No	ClinGen ExAC gnomAD
rs1242925512 CA371916393	66	V>G		No	ClinGen TOPMed
CA184682536 rs776249474	67	P>A		No	ClinGen Ensembl
rs371817652 CA4854398	67	P>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA4854397 rs371817652	67	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA371916376 rs1177400977	69	D>G		No	ClinGen gnomAD
TCGA novel	69	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4854396 rs367543871	70	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1272922541 CA371916360	71	L>F		No	ClinGen gnomAD
rs750250958 CA371916344	73	N>K		No	ClinGen ExAC gnomAD
rs1265397820 CA371916347	73	N>S		No	ClinGen gnomAD
rs1318780364 CA371916339	74	E>G		No	ClinGen gnomAD
rs867664035 CA184682530	75	D>N		No	ClinGen gnomAD
rs867664035 CA371916335	75	D>Y		No	ClinGen gnomAD
rs1409426317 CA371916325	76	S>Y		No	ClinGen gnomAD
CA4854392 rs767034189	77	S>G		No	ClinGen ExAC gnomAD
rs768341134 CA4854390	77	S>R		No	ClinGen ExAC gnomAD
rs763650236 CA4854389	78	V>M		No	ClinGen ExAC gnomAD
CA371916292 rs1456372365	81	S>C		No	ClinGen gnomAD
CA371916291 COSM202328 rs1456372365	81	S>F	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1038504618 CA184682523	82	P>L		No	ClinGen TOPMed gnomAD
rs760030507 CA4854388	82	P>S		No	ClinGen ExAC gnomAD
CA371916286 rs1249187315	83	R>G		No	ClinGen gnomAD
rs1554601559	83	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1554601559	83	R>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1064793753 CA16618592 RCV000483829	84	Q>*		No	ClinGen ClinVar Ensembl dbSNP
rs376231630 CA4854386	84	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs201918002 CA4854387	84	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	85	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	85	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779457389 CA184682517	90	S>C		No	ClinGen gnomAD
rs772121819 CA4854383	92	I>F		No	ClinGen ExAC
CA371916218 rs1261383828	93	Y>C		No	ClinGen gnomAD
CA371916222 rs1402667727	93	Y>N		No	ClinGen TOPMed
rs1327278823 CA371916209	94	K>R		No	ClinGen gnomAD
CA371916174 rs1397695425 COSM421756	99	R>C	Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA4854381 rs778849200	99	R>L		No	ClinGen ExAC TOPMed gnomAD
rs768927789 CA4854380	100	M>I		No	ClinGen ExAC gnomAD
rs1331448500 CA371916171	100	M>L		No	ClinGen gnomAD
CA371916158 rs1384997375	101	E>G		No	ClinGen gnomAD
CA371916161 rs1350817754	101	E>Q		No	ClinGen gnomAD
rs1254195378 CA371916154	102	S>T		No	ClinGen Ensembl
rs1242235773 CA371916147	103	C>R		No	ClinGen gnomAD
TCGA novel	103	C>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV000627629 rs1554601550	105	D>missing		No	ClinVar dbSNP
TCGA novel	105	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	105	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA371916097 rs1563659624	109	C>W		No	ClinGen Ensembl
rs1178109514 CA371916092	110	K>R		No	ClinGen gnomAD
TCGA novel	112	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1377414352 CA371916066	114	F>L		No	ClinGen gnomAD
rs201368821 CA4854373	115	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs146127753 CA4854374	115	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA184682506 rs371163252	116	V>F		No	ClinGen ESP TOPMed
CA4854372 rs763562992	117	Y>C		No	ClinGen ExAC gnomAD
rs1208144072 CA371916042	118	V>I		No	ClinGen gnomAD
rs1360494729 CA371916032	119	Y>C		No	ClinGen gnomAD
rs1415760714 CA371916034	119	Y>H		No	ClinGen gnomAD
CA4854370 rs752226935	120	P>L		No	ClinGen ExAC gnomAD
rs377676265 CA4854371	120	P>S		No	ClinGen ESP ExAC gnomAD
RCV000482388 rs1064793465	121	Q>missing		No	ClinVar dbSNP
CA371916020 rs1204529411	121	Q>L		No	ClinGen gnomAD
rs773394301 CA4854366	123	K>R		No	ClinGen ExAC gnomAD
rs773394301 CA371916006	123	K>T		No	ClinGen ExAC gnomAD
rs761940324 CA4854364	124	G>E		No	ClinGen ExAC gnomAD
rs767986411 CA4854365	124	G>R		No	ClinGen ExAC gnomAD
rs143019224 CA4854362	127	I>N		No	ClinGen ESP ExAC
CA159092 rs587778298 RCV000120871	128	A>S		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs867724110 CA184682490	128	A>V		No	ClinGen Ensembl
CA4854361 rs775712594	129	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1249105856 CA371915961	130	S>N		No	ClinGen TOPMed
rs1414678503 CA371915946	132	Q>*		No	ClinGen gnomAD
TCGA novel	133	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs938133710 CA184682487	134	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA371915915 rs1171135662	137	A>T		No	ClinGen gnomAD
RCV001269960 rs1817880834	139	E>missing		No	ClinVar dbSNP
CA4854360 rs769557488	140	G>V		No	ClinGen ExAC gnomAD
rs1316804046 CA371915863	144	Y>C		No	ClinGen gnomAD
CA184682482 rs564568537	146	S>L		No	ClinGen Ensembl
rs1245037592 CA371915847	147	D>Y		No	ClinGen gnomAD
rs1414318910 CA371915832	149	S>N		No	ClinGen TOPMed
CA184682480 rs922587596	150	Q>K		No	ClinGen TOPMed
rs1385688129 CA371915814	151	A>E		No	ClinGen gnomAD
rs1402547599 CA371915817	151	A>S		No	ClinGen TOPMed gnomAD
CA4854357 rs757114989	154	F>L		No	ClinGen ExAC TOPMed gnomAD
CA4854355 rs777356297	156	L>P		No	ClinGen ExAC gnomAD
CA4854354 rs758078822	158	L>V		No	ClinGen ExAC TOPMed gnomAD
rs975395118 CA184682472	160	T>N		No	ClinGen TOPMed
CA371915754 rs1410364563	161	L>S		No	ClinGen TOPMed
CA4854353 rs752137032	162	D>N		No	ClinGen ExAC gnomAD
rs544496246 CA184682469	163	R>G		No	ClinGen TOPMed
rs546339685 CA184682467	167	S>*		No	ClinGen Ensembl
CA371915711 rs1227559201	167	S>A		No	ClinGen gnomAD
CA4854352 rs764741916	170	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA371915679 rs1403919037	172	H>Y		No	ClinGen TOPMed
rs1448140995 CA371915673	173	N>D		No	ClinGen gnomAD
rs1586279681 CA371915660	174	L>F		No	ClinGen Ensembl
CA4854351 rs756568263	175	R>G		No	ClinGen ExAC gnomAD
TCGA novel	176	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762291120 CA4854348	177	K>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	179	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4854347 rs774883865	180	S>T		No	ClinGen ExAC TOPMed gnomAD
CA4854345 rs763278350	182	H>Y		No	ClinGen ExAC
rs1387642251 CA371915578	186	N>S		No	ClinGen TOPMed gnomAD
rs1387642251 CA371915579	186	N>T		No	ClinGen TOPMed gnomAD
CA4854344 COSM1095379 rs775696069	188	R>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1554601519 RCV000521659	194	N>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinVar dbSNP NCI-TCGA
rs1184228548 CA371915499	197	S>A		No	ClinGen gnomAD
rs776678803 CA4854341	197	S>C		No	ClinGen ExAC gnomAD
CA371915498 rs776678803	197	S>Y		No	ClinGen ExAC gnomAD
TCGA novel	198	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746766470 CA4854339	199	T>S		No	ClinGen ExAC gnomAD
TCGA novel	206	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757995060 CA4854337	207	V>G		No	ClinGen ExAC gnomAD
rs1228859857 CA371915432	207	V>M		No	ClinGen TOPMed gnomAD
rs1217793768 CA371915424	208	G>E		No	ClinGen gnomAD
rs747844962 CA4854336	211	I>S		No	ClinGen ExAC TOPMed gnomAD
CA4854334 rs146407656	212	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
VAR_012818	215	M>I	isolated osteochondroma; somatic mutation [UniProt]	No	UniProt
TCGA novel	215	M>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750877327 CA4854333	215	M>L		No	ClinGen ExAC gnomAD
CA4854332 rs781678414	216	L>V		No	ClinGen ExAC TOPMed gnomAD
CA4854331 rs757740272	217	A>V		No	ClinGen ExAC gnomAD
CA371915347 rs1405346511	219	A>V		No	ClinGen gnomAD
rs751926824 CA4854330	221	I>S		No	ClinGen ExAC gnomAD
rs1473004303 CA371915329	222	S>T		No	ClinGen gnomAD
rs149242997 CA4854329	223	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1336562431 CA371915297	226	F>L		No	ClinGen gnomAD
rs753036738 CA4854327	229	N>S		No	ClinGen ExAC gnomAD
TCGA novel	230	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1003279912 CA184682436	234	I>F		No	ClinGen TOPMed gnomAD
rs1003279912 CA371915248	234	I>V		No	ClinGen TOPMed gnomAD
VAR_012819	235	P>del	multiple osteochondromas [UniProt]	No	UniProt
TCGA novel	236	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA371915236 rs1451032732	236	L>V		No	ClinGen gnomAD
RCV001269536 rs1817872593	240	D>missing		No	ClinVar dbSNP
CA4854325 rs759603929	240	D>H		No	ClinGen ExAC gnomAD
rs906230630 CA184682433	242	P>L		No	ClinGen TOPMed
TCGA novel	244	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	245	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1293618270 CA371915167	246	G>E		No	ClinGen TOPMed
CA371915168 rs1287362675	246	G>W		No	ClinGen gnomAD
rs1380196220 CA371915154	248	R>K		No	ClinGen TOPMed
TCGA novel	249	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA371915148 rs1487566666	249	G>R		No	ClinGen Ensembl
CA184682426 rs920291906	250	F>I		No	ClinGen TOPMed gnomAD
CA371915142 rs920291906	250	F>V		No	ClinGen TOPMed gnomAD
CA371915136 rs1294549175	251	L>M		No	ClinGen gnomAD
CA371915111 rs1433419013	254	N>Y		No	ClinGen gnomAD
CA371915101 rs1348650954	255	T>N		No	ClinGen gnomAD
CA4854318 rs768201929	258	P>A		No	ClinGen ExAC TOPMed gnomAD
CA4854317 rs768201929	258	P>S		No	ClinGen ExAC TOPMed gnomAD
CA371915052 rs1481574908	263	M>V		No	ClinGen gnomAD
CA4854314 rs377162411	264	L>Q		No	ClinGen ESP ExAC gnomAD
CA4854315 rs779457224	264	L>V		No	ClinGen ExAC gnomAD
RCV000173068 rs794726875	270	R>missing		No	ClinVar dbSNP
CA371915004 rs1477621319	270	R>K		No	ClinGen gnomAD
CA371915001 rs1244929754	270	R>S		No	ClinGen gnomAD
RCV000486275 CA16618590 rs1064793786	271	Y>C		No	ClinGen ClinVar Ensembl dbSNP
rs752153917 CA4854313	273	T>A		No	ClinGen ExAC TOPMed gnomAD
CA371914983 rs1185024233	273	T>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs886041699 RCV000397830	274	G>missing		No	ClinVar dbSNP
CA371914975 rs778280138	275	I>L		No	ClinGen ExAC TOPMed gnomAD
CA4854312 rs778280138	275	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1038559683 CA184682413	276	G>E		No	ClinGen TOPMed
rs1586279413 CA371914963	277	S>A		No	ClinGen Ensembl
CA4854310 rs753126504	278	D>A		No	ClinGen ExAC gnomAD
rs1383240763 CA371914938	281	N>D		No	ClinGen TOPMed
CA184682410 rs868304903	282	A>V		No	ClinGen Ensembl
rs1302336455 CA371914918	284	Y>H		No	ClinGen gnomAD
rs551552671 CA4854309	286	V>F		No	ClinGen 1000Genomes ExAC gnomAD
COSM748504 CA371914903 rs551552671	286	V>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
CA4854308 rs759708614	290	E>Q		No	ClinGen ExAC gnomAD
CA371914870 rs1423177713	291	D>N		No	ClinGen TOPMed
TCGA novel	292	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760572042 CA4854305	294	L>V		No	ClinGen ExAC gnomAD
CA371914835 rs1318697804	296	T>N		No	ClinGen gnomAD
CA4854304 rs773198507	300	H>R		No	ClinGen ExAC gnomAD
CA371914783 rs1176457130	303	D>E		No	ClinGen TOPMed gnomAD
TCGA novel	303	D>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1413726979 CA371914780	304	W>G		No	ClinGen gnomAD
rs1554601473 RCV000482859	307	H>missing		No	ClinVar dbSNP
TCGA novel	307	H>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771837506 CA4854303	308	K>R		No	ClinGen ExAC TOPMed gnomAD
rs908702874 CA184682397	310	S>F		No	ClinGen TOPMed
CA4854301 rs774050402	311	R>L		No	ClinGen ExAC
rs1191253387 CA371914703	314	R>S		No	ClinGen TOPMed gnomAD
VAR_012820	316	N>S	chondrosarcoma; no loss of activity [UniProt]	No	UniProt
TCGA novel	317	T>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1483996169 CA371914663	320	E>Q		No	ClinGen gnomAD
rs779587832 CA4854298	321	K>R		No	ClinGen ExAC gnomAD
CA184298142 rs879009226	322	Y>C		No	ClinGen Ensembl
rs1554580158 CA371893384 RCV000521970	324	Y>*		No	ClinGen ClinVar Ensembl dbSNP
CA184298137 rs1046093250	324	Y>C		No	ClinGen Ensembl
CA4854273 rs748651137	325	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA371893381 rs1394508840 COSM1674134	325	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA4854271 rs755363067	329	H>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA371893353 rs755363067	329	H>R		No	ClinGen ExAC TOPMed gnomAD
CA371893333 rs1296350429	332	T>S		No	ClinGen gnomAD
rs1386640697 CA371893331	332	T>S		No	ClinGen TOPMed
rs201458269 CA371893322 CA184298100	333	F>L		No	ClinGen TOPMed gnomAD
rs538199953 CA4854270	334	C>F		No	ClinGen 1000Genomes ExAC gnomAD
CA4854269 rs538199953	334	C>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA184298072 rs113568296	336	V>A		No	ClinGen Ensembl
CA4854268 rs756329599	336	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1288618931 CA371893297	338	R>H		No	ClinGen TOPMed
RCV000412945 rs1057518031	339	G>missing		No	ClinVar dbSNP
rs1206600641 CA371893271	343	G>E		No	ClinGen TOPMed
CA184298030 rs978347552	343	G>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA184298027 rs967322756	344	S>A		No	ClinGen Ensembl
rs1212142934 CA371893240	348	L>M		No	ClinGen gnomAD
rs1212142934 CA371893239	348	L>V		No	ClinGen gnomAD
CA184298026 rs912913696	349	E>G		No	ClinGen Ensembl
TCGA novel	349	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1300462534 CA371892804	354	A>S		No	ClinGen gnomAD
TCGA novel	354	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	356	V>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760043953 CA4854240	358	V>L		No	ClinGen ExAC TOPMed gnomAD
rs760043953 CA371892708	358	V>M		No	ClinGen ExAC TOPMed gnomAD
CA184296618 rs1045353860	359	M>I		No	ClinGen Ensembl
rs549241569 CA4854239	359	M>K		No	ClinGen 1000Genomes ExAC gnomAD
CA371892684 rs549241569	359	M>T		No	ClinGen 1000Genomes ExAC gnomAD
CA371892638 rs1382345913	361	S>G		No	ClinGen gnomAD
CA4854238 rs527518789	362	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA371892596 CA4854237 rs763568003	363	G>R		No	ClinGen ExAC gnomAD
CA371892557 rs1554580035 RCV000579192	364	W>*		No	ClinGen ClinVar Ensembl dbSNP
rs1028715003 CA184296611	365	E>K		No	ClinGen TOPMed
rs1371506021 CA371892454	367	P>T		No	ClinGen gnomAD
TCGA novel	371	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1248648070 CA371892324	371	V>M		No	ClinGen gnomAD
CA371892180 rs1463673192	375	N>D		No	ClinGen gnomAD
CA4854234 rs746080792	377	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4854233 rs371233961	379	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000176987 rs747020325 CA371892016 CA243103	380	I>L		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA4854232 rs747020325	380	I>V		No	ClinGen ExAC TOPMed gnomAD
COSM202286 rs146983754 CA184296527	382	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP NCI-TCGA gnomAD
rs1057520535 RCV000441764 CA16605944	383	E>*		No	ClinGen ClinVar Ensembl dbSNP
CA4854229 rs752721885	384	R>K		No	ClinGen ExAC TOPMed gnomAD
rs374821962 COSM1313665 CA4854209	392	T>I	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs374821962 CA371890680	392	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA4854208 rs748083628	393	I>V		No	ClinGen ExAC gnomAD
CA184291928 rs1014256212	394	R>G		No	ClinGen TOPMed
CA371890640 rs1441820398	395	S>C		No	ClinGen TOPMed
CA4854206 rs749048200	396	I>F		No	ClinGen ExAC gnomAD
COSM94261 CA4854205 rs749048200	396	I>V	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA371890603 rs1222448496	397	H>R		No	ClinGen gnomAD
rs561006425 CA4854204	398	Q>K		No	ClinGen 1000Genomes ExAC gnomAD
CA371890568 rs1275929525	399	D>V		No	ClinGen TOPMed gnomAD
CA371890558 rs1436463800	400	K>E		No	ClinGen gnomAD
rs1368862860 CA371890530	401	I>T		No	ClinGen gnomAD
rs755694640 CA4854203	409	Q>K		No	ClinGen ExAC gnomAD
RCV000760420 CA371890326 rs1563573730	412	W>*		No	ClinGen ClinVar Ensembl dbSNP
CA184291867 rs886545537	413	E>K		No	ClinGen Ensembl
CA371890287 rs1350355119	414	A>V		No	ClinGen TOPMed
TCGA novel	420	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4854197 rs147847222	420	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA371890179 rs1427060439	422	I>T		No	ClinGen TOPMed gnomAD
rs1251797288 CA371890175	423	V>I		No	ClinGen TOPMed
rs1183473800 CA371890136	425	T>A		No	ClinGen TOPMed
CA4854192 rs772435035	428	E>Q		No	ClinGen ExAC gnomAD
rs748311058 CA184285176	432	D>E		No	ClinGen gnomAD
rs942079736 CA184285153	434	I>M		No	ClinGen TOPMed gnomAD
rs183760697 CA4854173	435	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1277354611 CA371888079	437	H>D		No	ClinGen gnomAD
rs768927725 CA4854170	438	I>M		No	ClinGen ExAC gnomAD
rs1228119516 CA371888056	438	I>T		No	ClinGen TOPMed
rs774546763 CA4854171	438	I>V		No	ClinGen ExAC TOPMed gnomAD
CA4854169 rs762790189	440	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
RCV001008833 rs1586997875	441	N>missing		No	ClinVar dbSNP
rs1313210405 CA371887994	442	S>G		No	ClinGen TOPMed gnomAD
rs531329914 CA4854167	444	I>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1554579012 CA371887948 RCV000521590	445	W>R		No	ClinGen ClinVar Ensembl dbSNP
CA371887917 rs745637397	446	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1563571296 CA913189985	447	K>H		No	ClinGen Ensembl
CA371887846 rs1484937234	449	P>L		No	ClinGen gnomAD
rs1430395411 CA371887788	451	G>V		No	ClinGen gnomAD
rs770549520 CA4854164	452	L>F		No	ClinGen ExAC gnomAD
CA4854162 rs201504622	454	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4854159 rs756607210	457	Q>P		No	ClinGen ExAC gnomAD
CA4854160 rs756607210	457	Q>R		No	ClinGen ExAC gnomAD
CA371887348 rs1427260383	462	L>P		No	ClinGen TOPMed
rs1314115386 CA371887312	463	G>V		No	ClinGen TOPMed
TCGA novel	464	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	465	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs867994630 CA184285017	466	P>S		No	ClinGen Ensembl
CA371887127 rs1375505148	468	Y>C		No	ClinGen TOPMed
CA4854158 rs750748090	469	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs750748090 CA371887103	469	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs746738537 CA184285006	470	A>T		No	ClinGen gnomAD
rs768039171 CA4854157	470	A>V		No	ClinGen ExAC gnomAD
TCGA novel	471	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4854156 rs376449014	472	L>F		No	ClinGen ESP ExAC gnomAD
CA371885610 rs1473758294	473	G>D		No	ClinGen TOPMed
CA371887025 rs1231742212	473	G>S		No	ClinGen gnomAD
CA371885599 rs1182351764	474	L>V		No	ClinGen TOPMed
CA371885551 rs1442814688	475	K>N		No	ClinGen TOPMed
rs751005275 CA4854140	476	P>T		No	ClinGen ExAC gnomAD
rs1391879741 CA371885499	478	S>F		No	ClinGen gnomAD
CA4854138 rs751981937	479	K>E		No	ClinGen ExAC gnomAD
CA4854137 rs192596226	479	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1327351154 CA371885436	483	V>L		No	ClinGen TOPMed
rs1159467409 CA371885418	485	H>R		No	ClinGen gnomAD
rs1586996629 RCV001009247	488	T>missing		No	ClinVar dbSNP
rs759514310 CA371885374	488	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1586996637 CA371885385	488	T>P		No	ClinGen Ensembl
rs759514310 CA4854134	488	T>S		No	ClinGen ExAC TOPMed gnomAD
CA4854130 rs201112673	489	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201112673 CA4854131	489	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA371885307 rs1586996606	490	L>R		No	ClinGen Ensembl
rs886039355	490	L>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA184282847 rs369235843	492	S>F		No	ClinGen ESP TOPMed
rs773877597 CA4854127	494	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA371885124 rs1248917798	494	S>P		No	ClinGen gnomAD
CA4854126 rs139784916	496	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs781738386 CA4854124	499	K>R		No	ClinGen ExAC gnomAD
CA371884790 COSM1635618 CA371884789 rs778048374	502	V>L	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA4854121 rs778048374	502	V>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	503	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA371884750 rs1460054632	503	A>V		No	ClinGen TOPMed
rs752931018 CA4854119	504	A>V		No	ClinGen ExAC gnomAD
CA184282745 rs201675147	506	K>R		No	ClinGen 1000Genomes
CA371884557 rs1468056863	508	Q>H		No	ClinGen gnomAD
rs915757314 CA184282739	508	Q>R		No	ClinGen TOPMed
CA371884527 rs1475246488	509	Y>C		No	ClinGen TOPMed
rs1383256196 CA371884422	512	Q>E		No	ClinGen gnomAD
rs1188968853 CA371883572	513	I>V		No	ClinGen gnomAD
rs1475399570 CA371883541	514	I>M		No	ClinGen gnomAD
rs1199361133 CA371883423	518	N>K		No	ClinGen TOPMed
rs750392304 CA4854096	518	N>T		No	ClinGen ExAC gnomAD
rs1554578706 RCV000523456 CA371883381	519	C>*		No	ClinGen ClinVar Ensembl dbSNP
CA184281719 rs754578641	521	K>R		No	ClinGen Ensembl
CA184281713 rs752889463	522	P>S		No	ClinGen Ensembl
rs1427879295 CA371883293	524	P>A		No	ClinGen TOPMed
CA371883275 rs1285562876	525	A>T		No	ClinGen TOPMed gnomAD
CA184281705 rs901022947	526	K>R		No	ClinGen TOPMed gnomAD
rs761451875 CA4854094	528	R>C		No	ClinGen ExAC TOPMed gnomAD
CA4854093 rs751404551	528	R>H		No	ClinGen ExAC TOPMed gnomAD
CA371883219 rs751404551	528	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs763608530 CA4854092	529	W>C		No	ClinGen ExAC gnomAD
CA4854091 rs762747719	530	P>R		No	ClinGen ExAC gnomAD
rs1328220647 CA371883190	531	A>D		No	ClinGen gnomAD
rs1336890378 CA371883193	531	A>T		No	ClinGen gnomAD
CA4854090 rs775110739	533	A>T		No	ClinGen ExAC gnomAD
COSM1551504 CA371883150 rs769496005	534	V>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs769496005 CA4854089	534	V>M		No	ClinGen ExAC gnomAD
CA184281650 rs1006713733	535	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA4854087 rs144397063	537	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4854085 COSM1454475 rs767492816	538	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1233420413 CA371883082	539	I>F		No	ClinGen gnomAD
CA4854084 rs779357756	539	I>N		No	ClinGen ExAC gnomAD
rs779357756 CA371883080	539	I>T		No	ClinGen ExAC gnomAD
CA371883062 rs1435547768	541	G>R		No	ClinGen gnomAD
rs866736802 CA184281593	544	K>N		No	ClinGen Ensembl
rs759528254 CA4854083	544	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1368926188 CA371881672	545	V>G		No	ClinGen TOPMed gnomAD
rs1322784502 CA371881643	546	M>I		No	ClinGen gnomAD
rs780189656 CA4854060	548	S>G		No	ClinGen ExAC gnomAD
rs770038045 CA4854059	549	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1317388728 COSM3698808 CA371881528	549	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1317388728 CA371881525	549	R>L		No	ClinGen TOPMed gnomAD
CA4854058 rs745890180	551	L>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	552	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751582814 CA371881432 COSM280905	554	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA4854055 rs751582814	554	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs777698557 CA4854053	555	N>D		No	ClinGen ExAC TOPMed gnomAD
rs1392782817 CA371881409	555	N>I		No	ClinGen gnomAD
rs561994950 CA4854052	558	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA371881269 rs752594306	559	D>E		No	ClinGen ExAC TOPMed gnomAD
rs754680491 CA4854049	560	A>T		No	ClinGen ExAC gnomAD
rs1486918382 CA371881211	560	A>V		No	ClinGen gnomAD
CA371881085 rs1345805410	563	S>N		No	ClinGen TOPMed gnomAD
CA371881048 rs1297906558	564	L>F		No	ClinGen gnomAD
CA371880994 rs1586993117	566	E>K		No	ClinGen Ensembl
CA371880927 COSM1454473 rs1361550108	568	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1428345482 CA371880919	569	V>M		No	ClinGen gnomAD
CA371880874 rs1305323658	571	S>L		No	ClinGen TOPMed
rs1064794137 RCV000479149	576	D>missing		No	ClinVar dbSNP
rs775804762 CA4854021	578	A>T		No	ClinGen ExAC gnomAD
CA4854020 rs765703551	581	V>A		No	ClinGen ExAC gnomAD
rs1309175788 CA371878578	583	Q>R		No	ClinGen TOPMed gnomAD
TCGA novel	584	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA371878556 rs1563873618	584	S>R		No	ClinGen Ensembl
CA371878516 rs1231316310	587	E>K		No	ClinGen gnomAD
TCGA novel	590	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1335741663 CA371878442	591	G>A		No	ClinGen gnomAD
CA4854015 rs773446843	592	Y>C		No	ClinGen ExAC gnomAD
CA371878433 rs1586990360	592	Y>D		No	ClinGen Ensembl
rs773446843 CA371878430	592	Y>S		No	ClinGen ExAC gnomAD
TCGA novel	593	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA371878404 rs1388996809	594	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	595	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA371878347 rs1586990341	597	H>R		No	ClinGen Ensembl
rs138006768 CA4854011	599	W>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs138006768 CA371878318	599	W>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs372876057 CA4854010	601	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs755747479 CA4854008	605	R>P		No	ClinGen ExAC gnomAD
CA4854006 rs184475999	610	S>A		No	ClinGen 1000Genomes ExAC gnomAD
rs534809501 CA4854005	613	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA4854004 rs753261171	613	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1252579899 COSM275026 CA371878039	615	D>N	large_intestine Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA4853999 rs761025295	619	V>A		No	ClinGen ExAC gnomAD
CA4854000 CA4854001 rs766571771	619	V>L		No	ClinGen ExAC gnomAD
rs772344042 CA371877869	627	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA371877863 rs1251059183	628	K>R		No	ClinGen TOPMed gnomAD
rs1586989230 CA371877714	632	Y>S		No	ClinGen Ensembl
rs760190441 CA184269623	637	Y>D		No	ClinGen TOPMed gnomAD
rs1563872968 CA371877485	645	M>V		No	ClinGen Ensembl
TCGA novel	647	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA371877387 rs761914342	648	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA371877343 rs1315338862	650	A>D		No	ClinGen gnomAD
TCGA novel	651	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1294490923 CA371877252	655	I>V		No	ClinGen TOPMed
CA371877201 rs1390390714	657	M>I		No	ClinGen TOPMed
CA371877134 rs762841739 CA371877138	659	F>L		No	ClinGen ExAC TOPMed gnomAD
rs768587413 CA4853973	659	F>L		No	ClinGen ExAC gnomAD
CA371877130 rs1335974361	660	L>Q		No	ClinGen gnomAD
CA371877102 rs775353874	661	V>E		No	ClinGen ExAC gnomAD
rs775353874 CA4853971	661	V>G		No	ClinGen ExAC gnomAD
rs769638712 CA4853970	662	S>C		No	ClinGen ExAC gnomAD
CA371877083 rs769638712	662	S>F		No	ClinGen ExAC gnomAD
rs1016811822 CA184269598	665	T>I		No	ClinGen Ensembl
rs1290707883 CA371876973	668	P>S		No	ClinGen TOPMed
CA184269586 rs961046001	669	P>L		No	ClinGen TOPMed
CA184269595 rs868551404	669	P>S		No	ClinGen TOPMed
CA184269582 rs1006977291	670	I>F		No	ClinGen gnomAD
rs1006977291 CA371876951	670	I>V		No	ClinGen gnomAD
rs776200312 CA4853968	674	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	676	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA371876849 RCV000578692 rs1554657213	678	Y>*		No	ClinGen ClinVar Ensembl dbSNP
rs1278931362 CA371876800	682	M>T		No	ClinGen gnomAD
rs1340913968 CA371876781	683	M>I		No	ClinGen gnomAD
CA371876789 rs1198261263	683	M>L		No	ClinGen gnomAD
rs1282927259 CA371890356	687	S>F		No	ClinGen gnomAD
rs138855109 CA4853949	688	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA371890338 rs1336352739	689	A>S		No	ClinGen TOPMed gnomAD
rs1336352739 CA371890339	689	A>T		No	ClinGen TOPMed gnomAD
rs1586987089 CA371890322	691	R>C		No	ClinGen Ensembl
CA371890298 rs1326876362	693	A>T		No	ClinGen gnomAD
rs1461749491 CA371890273	695	P>T		No	ClinGen gnomAD
rs771535658 CA4853946	696	D>N		No	ClinGen ExAC gnomAD
CA184316453 rs773320520	700	Q>K		No	ClinGen gnomAD
CA184316440 rs867830291	700	Q>R		No	ClinGen Ensembl
CA371890134 rs1287294447	705	M>V		No	ClinGen TOPMed
rs756718693 CA4853943	707	T>M		No	ClinGen ExAC
CA184316418 rs905281147	709	A>S		No	ClinGen gnomAD
CA371890065 rs1451386410	710	S>G		No	ClinGen gnomAD
CA184316406 rs575830428	712	F>L		No	ClinGen 1000Genomes gnomAD
rs767171278 CA184316402	713	G>S		No	ClinGen Ensembl
CA371889967 rs1225915837	715	M>L		No	ClinGen TOPMed gnomAD
CA4853941 rs781722411	716	P>L		No	ClinGen ExAC gnomAD
CA371889923 rs1364578501	719	H>D		No	ClinGen gnomAD
rs751787859 CA4853939	719	H>L		No	ClinGen ExAC gnomAD
rs751787859 CA371889919	719	H>R		No	ClinGen ExAC gnomAD
CA4853938 rs764391436	721	Q>*		No	ClinGen ExAC gnomAD
TCGA novel	721	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4853937 rs758347621	724	L>P		No	ClinGen ExAC TOPMed gnomAD
CA4853935 rs765113358	725	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4853933 rs146096724	727	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1586987017 CA371889700	733	V>G		No	ClinGen Ensembl
CA184316358 rs200106029	735	I>V		No	ClinGen TOPMed gnomAD
TCGA novel	742	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA371889520 rs1477526677	743	I>V		No	ClinGen TOPMed gnomAD
rs756691505 CA184316348	745	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed

3 associated diseases with Q16394

[MIM: 133700]: Hereditary multiple exostoses 1 (EXT1)

EXT is a genetically heterogeneous bone disorder caused by genes segregating on human chromosomes 8, 11, and 19 and designated EXT1, EXT2 and EXT3 respectively. EXT is a dominantly inherited skeletal disorder primarily affecting endochondral bone during growth. The disease is characterized by formation of numerous cartilage-capped, benign bone tumors (osteocartilaginous exostoses or osteochondromas) that are often accompanied by skeletal deformities and short stature. In a small percentage of cases exostoses have exhibited malignant transformation resulting in an osteosarcoma or chondrosarcoma. Osteochondromas development can also occur as a sporadic event. {ECO:0000269|PubMed:10441575, ECO:0000269|PubMed:10480354, ECO:0000269|PubMed:11169766, ECO:0000269|PubMed:8981950, ECO:0000269|PubMed:9326317, ECO:0000269|PubMed:9463333, ECO:0000269|PubMed:9521425, ECO:0000269|Ref.11}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 150230]: Tricho-rhino-phalangeal syndrome 2 (TRPS2)

A syndrome that combines the clinical features of tricho-rhino-phalangeal syndrome type 1 and multiple exostoses type 1. Affected individuals manifest multiple dysmorphic facial features including large, laterally protruding ears, a bulbous nose, an elongated upper lip, as well as sparse scalp hair, winged scapulae, multiple cartilaginous exostoses, redundant skin, and intellectual disability. Note=The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration resulting in the loss of functional copies of TRPS1 and EXT1 has been found in TRPS2 patients.

[MIM: 215300]: Chondrosarcoma (CHDSA)

A malignant neoplasm derived from cartilage cells. Chondrosarcomas range from slow-growing non-metastasizing lesions to highly aggressive metastasizing sarcomas. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

EXT is a genetically heterogeneous bone disorder caused by genes segregating on human chromosomes 8, 11, and 19 and designated EXT1, EXT2 and EXT3 respectively. EXT is a dominantly inherited skeletal disorder primarily affecting endochondral bone during growth. The disease is characterized by formation of numerous cartilage-capped, benign bone tumors (osteocartilaginous exostoses or osteochondromas) that are often accompanied by skeletal deformities and short stature. In a small percentage of cases exostoses have exhibited malignant transformation resulting in an osteosarcoma or chondrosarcoma. Osteochondromas development can also occur as a sporadic event. {ECO:0000269|PubMed:10441575, ECO:0000269|PubMed:10480354, ECO:0000269|PubMed:11169766, ECO:0000269|PubMed:8981950, ECO:0000269|PubMed:9326317, ECO:0000269|PubMed:9463333, ECO:0000269|PubMed:9521425, ECO:0000269|Ref.11}. Note=The disease is caused by variants affecting the gene represented in this entry.
A syndrome that combines the clinical features of tricho-rhino-phalangeal syndrome type 1 and multiple exostoses type 1. Affected individuals manifest multiple dysmorphic facial features including large, laterally protruding ears, a bulbous nose, an elongated upper lip, as well as sparse scalp hair, winged scapulae, multiple cartilaginous exostoses, redundant skin, and intellectual disability. Note=The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration resulting in the loss of functional copies of TRPS1 and EXT1 has been found in TRPS2 patients.
A malignant neoplasm derived from cartilage cells. Chondrosarcomas range from slow-growing non-metastasizing lesions to highly aggressive metastasizing sarcomas. Note=The disease is caused by variants affecting the gene represented in this entry.

2 regional properties for Q16394

Type	Name	Position	InterPro Accession
domain	Glycosyl transferase 64 domain	480 - 729	IPR015338
domain	Exostosin, GT47 domain	111 - 395	IPR040911

Functions

		Description
EC Number	2.4.1.225	Hexosyltransferases
Subcellular Localization	Golgi apparatus membrane ; Single-pass type II membrane protein Golgi apparatus, cis-Golgi network membrane ; Single-pass type II membrane protein Endoplasmic reticulum membrane ; Single-pass type II membrane protein	The active heparan sulfate polymerase complex composed of EXT1 and EXT2 is localized to the Golgi apparatus If both proteins are individually detected in the endoplasmic reticulum, the formation of the complex promotes their transport to the Golgi
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
endoplasmic reticulum	The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
endoplasmic reticulum membrane	The lipid bilayer surrounding the endoplasmic reticulum.
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
Golgi membrane	The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
integral component of endoplasmic reticulum membrane	The component of the endoplasmic reticulum membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
synapse	The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane.

9 GO annotations of molecular function

Name	Definition
acetylglucosaminyltransferase activity	Catalysis of the transfer of an N-acetylglucosaminyl residue from UDP-N-acetyl-glucosamine to a sugar.
glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity	Catalysis of the reaction: beta-D-glucuronosyl-(1,4)-N-acetyl-alpha-D-glucosaminyl-proteoglycan + UDP-N-acetyl-D-glucosamine = N-acetyl-alpha-D-glucosaminyl-(1,4)-beta-D-glucuronosyl-(1,4)-N-acetyl-alpha-D-glucosaminyl-proteoglycan + UDP.
glucuronosyltransferase activity	Catalysis of the reaction: UDP-glucuronate + acceptor = UDP + acceptor beta-D-glucuronoside.
glycosyltransferase activity	Catalysis of the transfer of a glycosyl group from one compound (donor) to another (acceptor).
heparan sulfate N-acetylglucosaminyltransferase activity	Catalysis of the reaction: UDP-N-acetyl-D-glucosamine + heparan sulfate = UDP + (N-acetyl-D-glucosaminyl)-heparan sulfate.
metal ion binding	Binding to a metal ion.
N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity	Catalysis of the reaction: N-acetyl-alpha-D-glucosaminyl-(1,4)-beta-D-glucuronosyl-proteoglycan + UDP-alpha-D-glucuronate = beta-D-glucuronosyl-(1,4)-N-acetyl-alpha-D-glucosaminyl-(1,4)-beta-D-glucuronosyl-proteoglycan + UDP.
protein heterodimerization activity	Binding to a nonidentical protein to form a heterodimer.
protein homodimerization activity	Binding to an identical protein to form a homodimer.

83 GO annotations of biological process

Name	Definition
antigen processing and presentation	The process in which an antigen-presenting cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex.
axon guidance	The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues.
basement membrane organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the basement membrane.
blood vessel remodeling	The reorganization or renovation of existing blood vessels.
BMP signaling pathway	The series of molecular signals initiated by the binding of a member of the BMP (bone morphogenetic protein) family to a receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
bone resorption	The process in which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products.
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 development involved in endochondral bone morphogenesis	The process whose specific outcome is the progression of the cartilage that will provide a scaffold for mineralization of endochondral bones.
cell adhesion mediated by integrin	The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via an integrin, a heterodimeric adhesion receptor formed by the non-covalent association of particular alpha and beta subunits.
cell fate commitment	The commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field.
cellular polysaccharide biosynthetic process	The chemical reactions and pathways resulting in the formation of polysaccharides, polymers of many (typically more than 10) monosaccharide residues linked glycosidically, occurring at the level of an individual cell.
cellular response to virus	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 stimulus from a virus.
chondrocyte hypertrophy	The growth of a chondrocyte, where growth contributes to the progression of the chondrocyte over time.
chondrocyte proliferation	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.
chondroitin sulfate metabolic process	The chemical reactions and pathways involving chondroitin sulfate, any member of a group of 10-60 kDa glycosaminoglycans, widely distributed in cartilage and other mammalian connective tissues, the repeat units of which consist of beta-(1,4)-linked D-glucuronyl beta-(1,3)-N-acetyl-D-galactosamine sulfate. They usually occur linked to a protein to form proteoglycans. Two subgroups exist, one in which the sulfate is on the 4-position (chondroitin sulfate A) and the second in which it is in the 6-position (chondroitin sulfate C). They often are polydisperse and often differ in the degree of sulfation from tissue to tissue. The chains of repeating disaccharide are covalently linked to the side chains of serine residues in the polypeptide backbone of a protein by a glycosidic attachment through the trisaccharide unit galactosyl-galactosyl-xylosyl. Chondroitin sulfate B is more usually known as dermatan sulfate.
collagen fibril organization	Any process that determines the size and arrangement of collagen fibrils within an extracellular matrix.
cranial skeletal system development	The process whose specific outcome is the progression of a cranial skeletal system over time, from its formation to the mature structure. The cranial skeletal system is the skeletal subdivision of the head, and includes the skull (cranium plus mandible), pharyngeal and/or hyoid apparatus.
dendrite self-avoidance	The process in which dendrites recognize and avoid contact with sister dendrites from the same cell.
dendritic cell migration	The movement of a dendritic cell within or between different tissues and organs of the body.
developmental growth involved in morphogenesis	The increase in size or mass of an anatomical structure that contributes to the structure attaining its shape.
embryonic skeletal joint development	The process, occurring during the embryonic phase, whose specific outcome is the progression of the skeletal joints over time, from formation to mature structure.
endochondral bone growth	The increase in size or mass of an endochondral bone that contributes to the shaping of the bone.
endochondral ossification	Replacement ossification wherein bone tissue replaces cartilage.
endoderm development	The process whose specific outcome is the progression of the endoderm over time, from its formation to the mature structure. The endoderm is the innermost germ layer that develops into the gastrointestinal tract, the lungs and associated tissues.
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.
fear response	The response of an organism to a perceived external threat.
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.
fluid transport	The directed movement of substances that are in liquid form in normal living conditions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
gastrulation	A complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. The details of gastrulation vary from species to species, but usually result in the formation of the three primary germ layers, ectoderm, mesoderm and endoderm.
gene expression	The process in which a gene's sequence is converted into a mature gene product (protein or RNA). This includes the production of an RNA transcript and its processing, translation and maturation for protein-coding genes.
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.
glomerular basement membrane development	The process whose specific outcome is the progression of the glomerular basement membrane over time, from its formation to the mature structure. The glomerular basement membrane is the basal laminal portion of the glomerulus which performs the actual filtration.
glycosaminoglycan biosynthetic process	The chemical reactions and pathways resulting in the formation of glycosaminoglycans, any of a group of polysaccharides that contain amino sugars.
hair follicle morphogenesis	The process in which the anatomical structures of the hair follicle are generated and organized.
heart contraction	The multicellular organismal process in which the heart decreases in volume in a characteristic way to propel blood through the body.
heart field specification	The process that results in the delineation of a specific region of the lateral mesoderm into the area in which the heart will develop.
hematopoietic stem cell differentiation	The process in which a relatively unspecialized cell acquires specialized features of a hematopoietic stem cell. 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.
hematopoietic stem cell homeostasis	Any biological process involved in the maintenance of the steady-state number of hematopoietic stem cells within a population of cells.
hematopoietic stem cell migration to bone marrow	The orderly movement of a hematopoietic stem cell into the bone marrow, and its subsequent positioning within defined functional compartments in that microenvironment. A hematopoietic stem cell is a cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system.
heparan sulfate proteoglycan biosynthetic process	The chemical reactions and pathways resulting in the formation of the heparan sulfate proteoglycan, a glycosaminoglycan with repeat unit consisting of alternating alpha-(1->4)-linked hexuronic acid and glucosamine residues; the former are a mixture of sulfated and nonsulfated D-glucuronic acid and L-iduronic acid; the L-iduronic acid is either sulfated or acetylated on its amino group as well as being sulfated on one of its hydroxyl groups; heparan sulfate chains are covalently linked to peptidyl-serine by a glycosidic attachment through the trisaccharide galactosyl-galactosyl-xylosyl to serine residues.
heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	The chemical reactions and pathways resulting in the formation of polysaccharide chain component of heparan sulfate proteoglycan.
heparin biosynthetic process	The chemical reactions and pathways resulting in the formation of heparin, any member of a group of glycosaminoglycans of average Mr (6000-20000), consisting predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues.
hypersensitivity	An inflammatory response to an exogenous environmental antigen or an endogenous antigen initiated by the adaptive immune system.
leukocyte tethering or rolling	Transient adhesive interactions between leukocytes and endothelial cells lining blood vessels. Carbohydrates on circulating leukocytes bind selectins on the vessel wall causing the leukocytes to slow down and roll along the inner surface of the vessel wall. During this rolling motion, transitory bonds are formed and broken between selectins and their ligands. Typically the first step in cellular extravasation (the movement of leukocytes out of the circulatory system, towards the site of tissue damage or infection).
limb joint morphogenesis	The process in which the anatomical structures of a limb joint are generated and organized. A limb joint is a flexible region that separates the rigid sections of a limb to allow movement in a controlled manner.
lymphocyte adhesion to endothelial cell of high endothelial venule	The attachment of a lymphocyte to an endothelial cell of a high endothelial venule (HEV) via adhesion molecules. A HEV cell is an endothelial cell that is cuboidal, expresses leukocyte-specific receptors, and allows for passage of lymphocytes into bloodstream.
lymphocyte migration into lymphoid organs	The movement of a lymphocyte within the lymphatic system into lymphoid organs such as lymph nodes, spleen or Peyer's patches, and its subsequent positioning within defined functional compartments such as sites of cell activation by antigen.
mesenchymal cell differentiation involved in bone development	The process in which relatively unspecialized cells acquire specialized structural and/or functional features that characterize the mesenchymal cells of bone as it progresses from its formation to the mature state.
mesoderm development	The process whose specific outcome is the progression of the mesoderm over time, from its formation to the mature structure. The mesoderm is the middle germ layer that develops into muscle, bone, cartilage, blood and connective tissue.
motor behavior	The specific neuromuscular movement of a single organism in response to external or internal stimuli.
multicellular organism growth	The increase in size or mass of an entire multicellular organism, as opposed to cell growth.
multicellular organismal water homeostasis	Any process involved in the maintenance of an internal steady state of water within a tissue, organ, or a multicellular organism.
neural crest cell differentiation	The process in which a relatively unspecialized cell acquires specialized features of a neural crest cell.
olfactory bulb development	The progression of the olfactory bulb over time from its initial formation until its mature state. The olfactory bulb coordinates neuronal signaling involved in the perception of smell. It receives input from the sensory neurons and outputs to the olfactory cortex.
optic nerve development	The process whose specific outcome is the progression of the optic nerve over time, from its formation to the mature structure. The sensory optic nerve originates from the bipolar cells of the retina and conducts visual information to the brainstem. The optic nerve exits the back of the eye in the orbit, enters the optic canal, and enters the central nervous system at the optic chiasm (crossing) where the nerve fibers become the optic tract just prior to entering the hindbrain.
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.
ossification involved in bone maturation	The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone, involved in the progression of the skeleton from its formation to its mature state.
perichondral bone morphogenesis	The process in which bones are generated and organized as a result of the conversion of initial connective tissue surrounding cartilage into bone.
podocyte differentiation	The process in which a relatively unspecialized cell acquires specialized features of a glomerular visceral epithelial cell. A glomerular visceral epithelial cell is a specialized epithelial cell that contains 'feet' that interdigitate with the 'feet' of other glomerular epithelial cells.
protein catabolic process	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.
protein glycosylation	A protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins.
protein-containing complex assembly	The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex.
regulation of blood pressure	Any process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure.
response to heparin	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 heparin stimulus.
response to leukemia inhibitory factor	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 leukemia inhibitory factor stimulus.
response to light intensity	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 light intensity stimulus.
sebaceous gland development	The process whose specific outcome is the progression of the sebaceous gland over time, from its formation to the mature structure.
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).
smoothened signaling pathway involved in lung development	The series of molecular signals generated as a consequence of activation of the transmembrane Smoothened-type protein. This process contributes to lung development.
social behavior	Behavior directed towards society, or taking place between members of the same species. Occurs predominantly, or only, in individuals that are part of a group.
sodium ion homeostasis	Any process involved in the maintenance of an internal steady state of sodium ions within an organism or cell.
stem cell division	The self-renewing division of a stem cell. A stem cell is an undifferentiated cell, in the embryo or adult, that can undergo unlimited division and give rise to one or several different cell types.
stomach development	The process whose specific outcome is the progression of the stomach over time, from its formation to the mature structure. The stomach is an expanded region of the vertebrate alimentary tract that serves as a food storage compartment and digestive organ.
sulfation	The addition of a sulfate group to a molecule.
sweat gland development	The progression of the sweat gland over time, from its formation to the mature structure. Sweat glands secrete an aqueous solution that is used in thermoregulation.
synaptic transmission, glutamatergic	The vesicular release of glutamate from a presynapse, across a chemical synapse, the subsequent activation of glutamate receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse.
tight junction organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a tight junction. A tight junction seals cells together in an epithelium in a way that prevents even small molecules from leaking from one side of the sheet to the other.
TNFSF11-mediated signaling pathway	The series of molecular signals initiated by the binding of tumor necrosis factor ligand superfamily member 11 (TNFSF11) to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
vacuole organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a vacuole.
vasodilation	An increase in the internal diameter of blood vessels, especially arterioles or capillaries, due to relaxation of smooth muscle cells that line the vessels, and usually resulting in a decrease in blood pressure.
vocalization behavior	The behavior in which an organism produces sounds by a mechanism involving its respiratory system.
wound healing	The series of events that restore integrity to a damaged tissue, following an injury.

10 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
A5D7I4	EXT1	Exostosin-1	Bos taurus (Bovine)	PR
O43909	EXTL3	Exostosin-like 3	Homo sapiens (Human)	PR
P97464	Ext1	Exostosin-1	Mus musculus (Mouse)	PR
Q10SX7	Os03g0107900	Probable glucuronosyltransferase Os03g0107900	Oryza sativa subsp japonica (Rice)	PR
O01704	rib-1	Exostosin-1 homolog	Caenorhabditis elegans	PR
Q94AA9	XGD1	Xylogalacturonan beta-1,3-xylosyltransferase	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9LFP3	At5g11130/At5g11120	Probable glycosyltransferase At5g11130	Arabidopsis thaliana (Mouse-ear cress)	PR
Q3EAR7	At3g42180	Probable glycosyltransferase At3g42180	Arabidopsis thaliana (Mouse-ear cress)	PR
Q5IGR8	ext1a	Exostosin-1a	Danio rerio (Zebrafish) (Brachydanio rerio)	PR
Q5IGR7	ext1b	Exostosin-1b	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MQAKKRYFIL	LSAGSCLALL	FYFGGLQFRA	SRSHSRREEH	SGRNGLHHPS	PDHFWPRFPD
70	80	90	100	110	120
ALRPFVPWDQ	LENEDSSVHI	SPRQKRDANS	SIYKGKKCRM	ESCFDFTLCK	KNGFKVYVYP
130	140	150	160	170	180
QQKGEKIAES	YQNILAAIEG	SRFYTSDPSQ	ACLFVLSLDT	LDRDQLSPQY	VHNLRSKVQS
190	200	210	220	230	240
LHLWNNGRNH	LIFNLYSGTW	PDYTEDVGFD	IGQAMLAKAS	ISTENFRPNF	DVSIPLFSKD
250	260	270	280	290	300
HPRTGGERGF	LKFNTIPPLR	KYMLVFKGKR	YLTGIGSDTR	NALYHVHNGE	DVVLLTTCKH
310	320	330	340	350	360
GKDWQKHKDS	RCDRDNTEYE	KYDYREMLHN	ATFCLVPRGR	RLGSFRFLEA	LQAACVPVML
370	380	390	400	410	420
SNGWELPFSE	VINWNQAAVI	GDERLLLQIP	STIRSIHQDK	ILALRQQTQF	LWEAYFSSVE
430	440	450	460	470	480
KIVLTTLEII	QDRIFKHISR	NSLIWNKHPG	GLFVLPQYSS	YLGDFPYYYA	NLGLKPPSKF
490	500	510	520	530	540
TAVIHAVTPL	VSQSQPVLKL	LVAAAKSQYC	AQIIVLWNCD	KPLPAKHRWP	ATAVPVVVIE
550	560	570	580	590	600
GESKVMSSRF	LPYDNIITDA	VLSLDEDTVL	STTEVDFAFT	VWQSFPERIV	GYPARSHFWD
610	620	630	640	650	660
NSKERWGYTS	KWTNDYSMVL	TGAAIYHKYY	HYLYSHYLPA	SLKNMVDQLA	NCEDILMNFL
670	680	690	700	710	720
VSAVTKLPPI	KVTQKKQYKE	TMMGQTSRAS	RWADPDHFAQ	RQSCMNTFAS	WFGYMPLIHS
730	740
QMRLDPVLFK	DQVSILRKKY	RDIERL