AiPD: Autoinhibited Protein Database

Q9HAS3

Gene name	SLC28A3 (CNT3)
Protein name	Solute carrier family 28 member 3
Names	Concentrative Na(+)-nucleoside cotransporter 3, CNT 3, hCNT3
Species	Homo sapiens (Human)
KEGG Pathway	hsa:64078
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-68 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-68 (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 Q9HAS3

Entry ID	Method	Resolution	Chain	Position	Source
6KSW	EM	360 A	A/B/C	70-691	PDB
AF-Q9HAS3-F1	Predicted				AlphaFoldDB

516 variants for Q9HAS3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1362282093 CA373912002	2	E>G		No	ClinGen gnomAD
VAR_039665 rs11568401 CA5105368	4	R>K		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA373911948 rs1439244120	4	R>S		No	ClinGen TOPMed gnomAD
RCV000959074 VAR_039666 CA5105367 rs11568403	5	S>N		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	5	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs11568403 CA195477815	5	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5105366 rs760965763	8	A>T		No	ClinGen ExAC gnomAD
rs1465514587 CA373911846	8	A>V		No	ClinGen gnomAD
CA5105365 rs752708129	9	P>R		No	ClinGen ExAC gnomAD
CA5105364 rs767704097	11	A>T		No	ClinGen ExAC gnomAD
rs572104749 CA5105362	12	E>A		No	ClinGen ExAC TOPMed gnomAD
CA5105361 rs775049604	12	E>D		No	ClinGen ExAC gnomAD
TCGA novel	14	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	15	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA867738324 rs1341798642	16	N>S		No	ClinGen TOPMed
rs773712823 CA5105358	17	V>A		No	ClinGen ExAC gnomAD
rs372845211 CA5105359	17	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA373911573 COSM1314985 rs1265842851	20	Q>*	Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs769268620 CA5105357	20	Q>H		No	ClinGen ExAC gnomAD
CA195486258 rs866774003	22	E>K		No	ClinGen TOPMed
CA373926423 rs866774003	22	E>Q		No	ClinGen TOPMed
TCGA novel	25	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1376355378 CA373926388	26	L>P		No	ClinGen TOPMed gnomAD
rs1469440399 CA373926383	27	E>A		No	ClinGen gnomAD
CA373926386 rs1158268731	27	E>K		No	ClinGen gnomAD
CA195486248 rs746482008	28	N>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	29	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5105335 rs267602295	29	E>K		No	ClinGen ExAC TOPMed gnomAD
CA373926346 rs1256676165	32	S>L		No	ClinGen gnomAD
CA195486221 rs1051545233	32	S>P		No	ClinGen TOPMed gnomAD
CA195486205 rs745873744	33	G>A		No	ClinGen ExAC TOPMed gnomAD
CA5105333 rs745873744	33	G>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	34	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA373926334 rs1280689129	34	N>K		No	ClinGen gnomAD
CA5105332 rs558328765	37	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA373926293 rs1240431425	40	R>S		No	ClinGen gnomAD
CA373926281 rs1188627597	42	V>A		No	ClinGen gnomAD
rs1355427695 CA373926275	43	Q>R		No	ClinGen gnomAD
rs749062159 CA5105330	47	H>Y		No	ClinGen ExAC gnomAD
CA373926235 rs1317922474	49	N>D		No	ClinGen gnomAD
rs758597815 CA5105307	54	E>K		No	ClinGen ExAC TOPMed gnomAD
CA373925551 rs1383703850	55	E>K		No	ClinGen TOPMed gnomAD
CA5105306 rs750489960	56	Q>*		No	ClinGen ExAC gnomAD
rs368335475 CA5105303	59	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA5105304 rs765734188	59	V>I		No	ClinGen ExAC gnomAD
CA373925469 rs977758811	60	E>G		No	ClinGen TOPMed gnomAD
CA5105302 rs754217280	60	E>Q		No	ClinGen ExAC gnomAD
rs977758811 CA195483952	60	E>V		No	ClinGen TOPMed gnomAD
CA195483942 rs1044920835	62	D>E		No	ClinGen Ensembl
rs45621433 VAR_039667 CA5105301	62	D>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5105300 rs760291770	63	S>F		No	ClinGen ExAC gnomAD
CA5105297 VAR_039668 rs11568411	67	R>K		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs770848937 CA5105295	69	H>P		No	ClinGen ExAC TOPMed gnomAD
rs141035774 CA373925285	69	H>Q		No	ClinGen ESP ExAC gnomAD
CA373925298 rs1402292142	69	H>Y		No	ClinGen TOPMed
CA373925269 rs1164793939	70	M>I		No	ClinGen gnomAD
CA5105293 rs773052862	70	M>L		No	ClinGen ExAC gnomAD
CA5105292 rs769748918	70	M>T		No	ClinGen ExAC gnomAD
CA373925284 rs773052862	70	M>V		No	ClinGen ExAC gnomAD
CA195483849 rs772520558	71	E>K		No	ClinGen Ensembl
CA5105291 rs146479215	72	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs780373079 CA5105290	73	D>H		No	ClinGen ExAC gnomAD
CA5105289 rs772453182	74	D>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs201703058 CA373925156	76	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA5105287 rs201703058	76	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA5105285 CA195483836 rs756047607	77	M>I		No	ClinGen ExAC gnomAD
rs1232874754 CA373925131	77	M>K		No	ClinGen gnomAD
rs757777899 CA5105286	77	M>V		No	ClinGen ExAC gnomAD
CA195483835 rs934355378	78	Q>K		No	ClinGen gnomAD
CA195483831 rs1012786225	78	Q>R		No	ClinGen TOPMed
rs569600197 CA5105284	79	Q>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1346043264 CA373925062	80	K>N		No	ClinGen TOPMed gnomAD
CA5105283 rs756423598	80	K>R		No	ClinGen ExAC TOPMed gnomAD
rs537612378 CA5105266	87	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1253127810 CA373923492	87	Y>C		No	ClinGen gnomAD
COSM1110658 CA5105265 rs570175390	89	T>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs756621731 CA5105262	91	C>*		No	ClinGen ExAC gnomAD
rs753005525 CA373923378	92	G>R		No	ClinGen ExAC TOPMed gnomAD
CA5105261 rs753005525	92	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA373923360 rs1221827336	93	F>L		No	ClinGen gnomAD
CA5105260 rs781598592	94	C>R		No	ClinGen ExAC gnomAD
rs751206912 CA5105258	97	H>Q		No	ClinGen ExAC gnomAD
CA5105259 rs754650039	97	H>Y		No	ClinGen ExAC gnomAD
CA373923141 rs988303117	100	T>I		No	ClinGen gnomAD
rs988303117 CA195477202	100	T>N		No	ClinGen gnomAD
CA195477194 rs151144501	102	R>Q		No	ClinGen ESP TOPMed gnomAD
CA5105256 rs762318509	102	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA373923119 rs1377380818	103	H>P		No	ClinGen gnomAD
rs749982409 CA5105255	103	H>Y		No	ClinGen ExAC
rs1413420385 CA588697336	104	I>F		No	ClinGen gnomAD
rs142086985 CA5105254	105	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs761854994 CA5105253	107	G>D		No	ClinGen ExAC gnomAD
rs776554038 CA5105252	109	L>*		No	ClinGen ExAC gnomAD
CA5105225 rs763222501	112	G>A		No	ClinGen ExAC gnomAD
CA5105251 rs768377281	112	G>R		No	ClinGen ExAC gnomAD
CA5105224 rs10868138 VAR_039669 COSM3764035	113	Y>C	large_intestine [Cosmic]	No	ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1588586555 CA373922342	115	V>G		No	ClinGen Ensembl
rs1215906481 CA373922353	115	V>L		No	ClinGen gnomAD
CA373922331 TCGA novel rs1238758154	116	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen TOPMed
CA373922311 rs776573229	117	V>A		No	ClinGen gnomAD
CA195476318 rs776573229	117	V>E		No	ClinGen gnomAD
rs1366413515 CA373922319	117	V>L		No	ClinGen gnomAD
CA5105223 rs75061381	119	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	121	C>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1294622333 CA373922217	121	C>Y		No	ClinGen gnomAD
rs372407949 CA5105221	124	N>H		No	ClinGen ESP ExAC gnomAD
rs1450283653 CA373922106	125	F>C		No	ClinGen TOPMed gnomAD
CA195476303 rs140098992	126	H>R		No	ClinGen ESP TOPMed
CA5105218 rs780482408 COSM3780161	126	H>Y	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA5105217 rs757975408	129	L>R		No	ClinGen ExAC gnomAD
VAR_039670	131	L>F		No	UniProt
CA195476297 rs978284834	132	F>L		No	ClinGen TOPMed gnomAD
CA373921885 rs1564158437	133	V>A		No	ClinGen Ensembl
rs778543818 CA373921832	135	T>I		No	ClinGen ExAC TOPMed gnomAD
CA5105214 rs778543818	135	T>N		No	ClinGen ExAC TOPMed gnomAD
rs147498788 CA5105212	136	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5105211 rs763868585	141	F>S		No	ClinGen ExAC TOPMed gnomAD
CA195476286 rs372782282	144	W>*		No	ClinGen Ensembl
TCGA novel	147	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756088103 CA5105210	147	L>P		No	ClinGen ExAC TOPMed gnomAD
CA5105208 rs767409547	148	M>T		No	ClinGen ExAC gnomAD
CA5105207 rs763125658	149	A>T		No	ClinGen ExAC TOPMed gnomAD
rs773475433 CA5105206	151	Y>N		No	ClinGen ExAC gnomAD
rs960470501 CA195476273	152	E>*		No	ClinGen gnomAD
CA373920802 rs1432634996	152	E>A		No	ClinGen gnomAD
CA373920805 rs960470501	152	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs761843515 CA5105204	153	H>Y		No	ClinGen ExAC gnomAD
COSM258026 CA5105203 rs542312574	154	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA5105201 rs371233248	154	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1248298359 CA373920719	155	I>T		No	ClinGen gnomAD
CA373920700 rs1183786386	156	D>V		No	ClinGen gnomAD
CA5105200 rs775713963	158	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1356308999 CA373920649	158	M>T		No	ClinGen TOPMed
rs138852988 CA5105199	160	S>C		No	ClinGen ESP ExAC gnomAD
rs746256353 CA5105198	161	P>L		No	ClinGen ExAC gnomAD
rs1021292925 COSM609481 CA195476255	164	R>K	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs1564158288 CA373920515	165	L>P		No	ClinGen Ensembl
CA5105196 rs543574325	168	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1290744702 CA373920459	169	H>R		No	ClinGen gnomAD
TCGA novel CA5105195 rs748747755	170	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC gnomAD
CA373920436 rs1256416959	170	W>G		No	ClinGen TOPMed
rs1256416959 CA373920443	170	W>R		No	ClinGen TOPMed
rs1564158241 CA373920405	171	F>C		No	ClinGen Ensembl
rs1355847619 CA373919819	175	W>*		No	ClinGen TOPMed
rs777397014 CA5105194	175	W>R		No	ClinGen ExAC gnomAD
CA373919799 rs1413849839	177	I>T		No	ClinGen TOPMed
CA195475503 rs140774023 COSM107525	178	W>*	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs943161060 CA195475506	178	W>R		No	ClinGen Ensembl
CA195475501 rs377511904	182	V>D		No	ClinGen ESP
rs1262611477 CA373919715	186	I>V		No	ClinGen gnomAD
rs777113330 CA5105177	188	W>L		No	ClinGen ExAC gnomAD
CA5105174 rs188520606	190	A>D		No	ClinGen 1000Genomes ExAC
CA5105175 rs747637666	190	A>P		No	ClinGen ExAC TOPMed gnomAD
CA5105172 rs754918107	191	F>S		No	ClinGen ExAC gnomAD
rs922244652 CA195475488	193	T>A		No	ClinGen TOPMed
CA5105171 rs779883780	194	A>D		No	ClinGen ExAC gnomAD
CA5105170 rs779883780	194	A>V		No	ClinGen ExAC gnomAD
CA5105169 rs757467271	199	Q>*		No	ClinGen ExAC
CA373919558 rs1252426645	200	Q>*		No	ClinGen TOPMed
CA373919539 rs1468463782	202	V>L		No	ClinGen gnomAD
CA373919541 rs1468463782	202	V>M		No	ClinGen gnomAD
CA5105167 rs764058618	203	S>F		No	ClinGen ExAC gnomAD
COSM1110655 rs373846669 CA5105165	205	G>S	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA373919502 rs1225451402	206	G>R		No	ClinGen gnomAD
rs200322231 CA5105163	208	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1052083114 CA195475472	208	I>T		No	ClinGen TOPMed
CA195475469 rs922592247	209	M>T		No	ClinGen Ensembl
rs1435518891 CA373919459	210	Y>H		No	ClinGen gnomAD
CA5105162 rs774849191	211	I>V		No	ClinGen ExAC gnomAD
rs766886096 CA5105161	212	V>A		No	ClinGen ExAC
CA373919376 rs1391600454	218	S>P		No	ClinGen TOPMed gnomAD
CA5105156 VAR_039671 rs11140503	221	P>Q		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA373919327 rs1564156204	222	T>P		No	ClinGen Ensembl
rs776134016 CA5105154	223	R>S		No	ClinGen ExAC TOPMed gnomAD
rs775359011 CA5105132	226	W>*		No	ClinGen ExAC TOPMed gnomAD
rs543523369 CA5105131	227	R>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA195475079 rs543523369	227	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1346915949 CA373918619	228	P>T		No	ClinGen gnomAD
CA5105128 rs756352893	231	W>*		No	ClinGen ExAC gnomAD
CA373918585 rs1163261349	231	W>R		No	ClinGen TOPMed
rs1278878173 CA373918561	232	G>E		No	ClinGen TOPMed gnomAD
CA5105125 rs755055272	234	G>A		No	ClinGen ExAC gnomAD
rs766927064 CA5105126 CA373918538	234	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1264108220 CA373918513	236	Q>*		No	ClinGen gnomAD
rs1284917103 CA373918510	236	Q>R		No	ClinGen TOPMed
rs372432690 CA195475068	239	L>P		No	ClinGen ESP gnomAD
CA195475065 rs141856904	242	L>F		No	ClinGen ESP gnomAD
TCGA novel	244	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1157502950 CA373918375	245	R>K		No	ClinGen gnomAD
CA373918338 rs758844484	246	T>I		No	ClinGen ExAC gnomAD
CA5105122 rs758844484	246	T>S		No	ClinGen ExAC gnomAD
CA373918327 rs1187544478	247	D>G		No	ClinGen gnomAD
CA5105121 rs750790633	249	G>E		No	ClinGen ExAC gnomAD
rs370181927 CA5105120	251	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA195475055 rs200353586	251	I>T		No	ClinGen 1000Genomes
CA373918219 rs1212052579	252	A>P		No	ClinGen gnomAD
rs761498230 CA5105119	253	F>S		No	ClinGen ExAC gnomAD
rs753537755 CA5105118	255	W>*		No	ClinGen ExAC TOPMed gnomAD
rs763758747 CA5105117	255	W>C		No	ClinGen ExAC gnomAD
CA5105094 rs200370836	265	E>*		No	ClinGen ExAC gnomAD
CA373917985 rs200370836	265	E>K		No	ClinGen ExAC gnomAD
rs774103587 CA5105093	266	Y>F		No	ClinGen ExAC gnomAD
CA373917950 rs1186778656	268	D>H		No	ClinGen TOPMed
CA373917952 rs1186778656	268	D>N		No	ClinGen TOPMed
rs201288231 CA5105091	269	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1248576234 CA373917911	271	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1209108848 COSM3848989 CA373917900	273	F>L	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
COSM3848989 CA5105090 rs773158501	273	F>L	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
COSM1314984 rs1588579758 CA373917853	277	E>K	urinary_tract [Cosmic]	No	ClinGen cosmic curated Ensembl
CA5105087 rs747304975	279	Y>*		No	ClinGen ExAC gnomAD
CA373917810 rs1231164604	280	K>R		No	ClinGen gnomAD
rs148080483 CA5105084	282	H>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5105086 rs536163007	282	H>N		No	ClinGen 1000Genomes ExAC gnomAD
rs536163007 CA5105085	282	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs1385551795 CA373917779	283	F>L		No	ClinGen gnomAD
CA373917753 rs1370316961	285	A>S		No	ClinGen gnomAD
CA373917748 rs1294244533	285	A>V		No	ClinGen gnomAD
CA373917737 rs1369016674	286	F>L		No	ClinGen gnomAD
rs1005085205 CA195474886	286	F>L		No	ClinGen gnomAD
CA5105059 rs368679909	290	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5105057 rs202155610	292	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA373917064 rs1210567469	294	F>L		No	ClinGen TOPMed
rs1289209568 CA373916975	298	V>A		No	ClinGen TOPMed
rs766056834 CA5105055	299	M>I		No	ClinGen ExAC gnomAD
CA373916943 rs1327205351	300	S>P		No	ClinGen gnomAD
CA5105054 rs758382193	301	M>T		No	ClinGen ExAC gnomAD
CA373916846 rs1449831405	303	Y>C		No	ClinGen TOPMed
TCGA novel	304	Y>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA373916778 rs1238587422	306	G>E		No	ClinGen TOPMed
rs765290341 CA5105052	309	Q>P		No	ClinGen ExAC gnomAD
CA5105050 rs776491428	310	W>*		No	ClinGen ExAC TOPMed gnomAD
CA195474054 rs972953027	310	W>*		No	ClinGen TOPMed gnomAD
CA5105051 rs761475649	310	W>R		No	ClinGen ExAC TOPMed gnomAD
rs1227633790 CA373916601	311	I>S		No	ClinGen gnomAD
CA5105049 rs759869230	313	R>K		No	ClinGen ExAC TOPMed gnomAD
CA5105048 rs759869230	313	R>T		No	ClinGen ExAC TOPMed gnomAD
CA373916065 rs1480255574	315	V>F		No	ClinGen gnomAD
rs537611778 CA195473736	317	W>R		No	ClinGen gnomAD
CA373916005 rs1448045792	320	L>P		No	ClinGen gnomAD
rs144797643 CA5105025	323	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA373915967 rs1189712131	324	G>E		No	ClinGen gnomAD
rs1287861467 CA373915956	325	S>*		No	ClinGen gnomAD
rs1258493454 CA373915962	325	S>T		No	ClinGen TOPMed
rs927764020 CA195473732	327	P>R		No	ClinGen TOPMed gnomAD
rs866646441 CA195473733	327	P>S		No	ClinGen Ensembl
rs11568418 CA5105022 VAR_039672	328	I>V		No	ClinGen UniProt 1000Genomes ESP TOPMed dbSNP gnomAD
CA373915892 rs1227400352	331	V>A		No	ClinGen TOPMed gnomAD
rs776834388 CA5105021	331	V>L		No	ClinGen ExAC gnomAD
rs867144793 CA195473730	334	S>P		No	ClinGen Ensembl
CA5105020 rs769117051	335	G>A		No	ClinGen ExAC gnomAD
rs140340331 CA5105019	336	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1431338991 CA373915824	338	F>C		No	ClinGen gnomAD
CA5104990 rs375012676	342	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA373915733 rs1588570173	344	S>A		No	ClinGen Ensembl
CA373915710 rs1447778330	348	V>A		No	ClinGen TOPMed gnomAD
rs765404025 CA5104986	348	V>L		No	ClinGen ExAC gnomAD
CA373915707 rs1357733836	349	R>*		No	ClinGen TOPMed gnomAD
VAR_039673 rs45525131 CA5104985	349	R>Q		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1588570131 CA373915685	352	L>F		No	ClinGen Ensembl
CA373915672 rs1157109973	354	Y>F		No	ClinGen gnomAD
CA5104982 rs761323788	355	I>M		No	ClinGen ExAC TOPMed gnomAD
rs764606271 CA5104983	355	I>V		No	ClinGen ExAC gnomAD
CA5104981 rs775964016	357	K>E		No	ClinGen ExAC gnomAD
CA5104979 rs760000868	357	K>N		No	ClinGen ExAC TOPMed gnomAD
CA5104980 rs768041296	357	K>R		No	ClinGen ExAC gnomAD
CA918495389 rs1564149865	358	S>*		No	ClinGen Ensembl
TCGA novel	359	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5104977 rs368457915	361	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs769712186 CA5104975	362	A>S		No	ClinGen ExAC TOPMed gnomAD
rs769712186 CA5104974 COSM3433321	362	A>T	large_intestine Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA5104973 rs780945194	363	I>F		No	ClinGen ExAC TOPMed gnomAD
rs780945194 CA5104972	363	I>V		No	ClinGen ExAC TOPMed gnomAD
CA5104971 rs754723936	364	M>R		No	ClinGen ExAC TOPMed gnomAD
CA373915594 rs1260900168	364	M>V		No	ClinGen gnomAD
rs746815618 CA5104970	365	T>S		No	ClinGen ExAC TOPMed gnomAD
rs140138960 CA373915569	366	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140138960 CA5104968 VAR_070606	366	A>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA373915551 rs1458900771 COSM1555130	367	G>A	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs11568388 CA195473062 VAR_039674	367	G>R	reduced transport of inosine and thymidine [UniProt]	No	ClinGen UniProt TOPMed dbSNP
CA373915504 rs144863604	371	I>F		No	ClinGen ESP ExAC gnomAD
rs1323780533 CA373915501	371	I>T		No	ClinGen gnomAD
rs144863604 CA5104964	371	I>V		No	ClinGen ESP ExAC gnomAD
rs753913265 CA5104962	375	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA373915416 rs1380270600	378	A>G		No	ClinGen TOPMed
CA373915403 rs1247355424	379	Y>C		No	ClinGen gnomAD
rs1486578820 CA373915386	380	I>M		No	ClinGen gnomAD
rs766037540 CA5104960	380	I>V		No	ClinGen ExAC gnomAD
rs1220157206 CA373915375	381	S>F		No	ClinGen gnomAD
CA373915366 rs1395791957	382	F>S		No	ClinGen TOPMed
CA373915358 rs1291573362	383	G>W		No	ClinGen gnomAD
rs1306017834 CA373914880	384	V>A		No	ClinGen gnomAD
rs756221981 CA5104946	384	V>F		No	ClinGen ExAC gnomAD
CA5104944 rs200451512	386	S>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA373914853 rs1164440180	387	S>C		No	ClinGen TOPMed
CA5104941 rs766691505	392	A>E		No	ClinGen ExAC gnomAD
COSM1110653 rs766691505 CA5104942	392	A>V	large_intestine endometrium Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA5104939 rs749998131	394	V>A		No	ClinGen ExAC gnomAD
rs1425783136 CA373914772	395	M>T		No	ClinGen TOPMed
CA195472510 rs149580419	398	P>L		No	ClinGen ESP
COSM1463323 CA5104937 rs761250487	399	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs760598124 CA373914711	401	L>V		No	ClinGen ExAC TOPMed gnomAD
CA5104933 rs775326835	403	A>G		No	ClinGen ExAC TOPMed gnomAD
CA5104932 rs147279405	405	K>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs745704919 CA5104931	406	L>I		No	ClinGen ExAC
CA373914604 rs1588566521	408	W>L		No	ClinGen Ensembl
CA5104929 rs142669309	409	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs748222496 CA5104927	411	T>A		No	ClinGen ExAC TOPMed gnomAD
CA373914542 rs1392934870	412	E>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs567058690 CA5104926	414	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs567058690 CA373914512	414	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs11568405 VAR_039675 CA5104925	418	L>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA373914439 rs1368601763	419	K>Q		No	ClinGen TOPMed
rs148078245 COSM609488 CA5104924	424	M>I	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA195472482 rs915649551	425	E>G		No	ClinGen TOPMed
CA373914274 rs1408185762	427	G>S		No	ClinGen TOPMed gnomAD
TCGA novel	427	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1446753588 CA373914034	428	D>Y		No	ClinGen gnomAD
rs768571830 CA5104905	429	S>L		No	ClinGen ExAC gnomAD
rs1588563316 CA373913996	430	G>E		No	ClinGen Ensembl
rs747146570 CA5104904	431	N>K		No	ClinGen ExAC gnomAD
CA195472015 rs957955118	431	N>T		No	ClinGen gnomAD
CA5104901 rs746218528	437	T>I		No	ClinGen ExAC TOPMed gnomAD
CA5104900 rs779317505	439	G>*		No	ClinGen ExAC gnomAD
rs747194438 CA5104899	439	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1434329491 CA373913830	442	S>Y		No	ClinGen gnomAD
rs1319783951 CA373913813	443	S>F		No	ClinGen gnomAD
rs755511024 CA5104896	444	I>L		No	ClinGen ExAC gnomAD
rs189154450 CA5104895	447	V>E		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	448	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1426973428 CA373913785	448	A>V		No	ClinGen gnomAD
CA5104894 rs767342863	449	N>S		No	ClinGen ExAC TOPMed gnomAD
rs759609725 CA5104893	450	I>V		No	ClinGen ExAC
TCGA novel	451	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5104891 rs148240981	451	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA373913752 rs1225431836	454	L>M		No	ClinGen TOPMed
CA5104890 rs762860714	454	L>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	456	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1265557162 CA373913706	458	L>V		No	ClinGen gnomAD
CA5104888 rs768930947	459	A>P		No	ClinGen ExAC gnomAD
rs1292289079 CA373913672	461	L>P		No	ClinGen gnomAD
CA5104886 rs775697183	463	F>S		No	ClinGen ExAC gnomAD
rs772454658 CA5104885	464	M>I		No	ClinGen ExAC gnomAD
rs1271853732 CA373913639	464	M>T		No	ClinGen gnomAD
rs990869373 CA195471990	464	M>V		No	ClinGen TOPMed
CA373913575 rs1329978381	466	S>L		No	ClinGen gnomAD
rs746416506 CA5104884	467	A>D		No	ClinGen ExAC gnomAD
rs1365756982 CA373913512	470	W>*		No	ClinGen gnomAD
rs1197705194 CA373913483	473	N>H		No	ClinGen TOPMed
CA195471986 rs1004351725	474	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs779229445 CA5104883	475	F>C		No	ClinGen ExAC gnomAD
rs779229445 CA195471984	475	F>S		No	ClinGen ExAC gnomAD
rs1162986813 CA373913399	476	D>E		No	ClinGen gnomAD
rs1302334939 CA373913278	482	F>L		No	ClinGen Ensembl
CA373913282 rs1477765577	482	F>S		No	ClinGen gnomAD
rs1376029856 CA373913255	483	E>D		No	ClinGen gnomAD
rs1470862820 CA373913262	483	E>V		No	ClinGen TOPMed
CA373912224 rs1184360725	484	L>V		No	ClinGen TOPMed gnomAD
CA5104864 rs754342578	486	C>R		No	ClinGen ExAC TOPMed gnomAD
rs557666022 CA5104862	488	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs771440704 CA5104861	489	I>V		No	ClinGen ExAC TOPMed gnomAD
rs749638656 CA5104860	491	M>V		No	ClinGen ExAC gnomAD
rs372729892 CA5104858	492	P>S		No	ClinGen ESP ExAC gnomAD
CA5104859 rs372729892	492	P>T		No	ClinGen ESP ExAC gnomAD
TCGA novel	494	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1701271 rs1221749861 CA373911939	494	S>F	skin [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA373911924 rs1375008789	495	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs747881012 CA5104857	496	M>T		No	ClinGen ExAC gnomAD
rs780727412 CA5104856	497	M>I		No	ClinGen ExAC gnomAD
rs1381309149 CA373911845	498	G>R		No	ClinGen TOPMed gnomAD
CA5104854 rs751121554	499	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1387958545 CA373911770	500	E>D		No	ClinGen gnomAD
CA373911736 rs1156962301	501	W>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA373911725 rs1258290549	502	Q>*		No	ClinGen TOPMed
CA5104853 rs780085103	503	D>G		No	ClinGen ExAC gnomAD
CA5104852 rs192544203	505	F>V		No	ClinGen 1000Genomes ExAC gnomAD
rs151130595 CA5104851	506	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142065092 CA5104850	510	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA195471885 rs765873010	511	I>M		No	ClinGen TOPMed gnomAD
rs760787099 CA5104849	511	I>T		No	ClinGen ExAC gnomAD
CA5104848 rs56350726	513	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5104847 rs56350726 COSM3764034 VAR_039676	513	Y>F	large_intestine [Cosmic]	No	ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs759552210 CA5104845	516	F>L		No	ClinGen ExAC TOPMed gnomAD
CA5104842 rs367794490	518	N>K		No	ClinGen ESP ExAC gnomAD
rs561817778 CA5104843	518	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1357715870 CA373911474	519	E>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA373911451 rs1465534980	521	V>L		No	ClinGen TOPMed
rs1588562151 CA373911424	523	Y>F		No	ClinGen Ensembl
rs763551590 CA5104841	524	E>K		No	ClinGen ExAC gnomAD
rs1293730858 CA373911378	527	S>L		No	ClinGen gnomAD
CA195471874 rs188090884	528	K>E		No	ClinGen 1000Genomes
rs770143879 CA5104839	529	W>*		No	ClinGen ExAC gnomAD
rs1025067244 CA195471871	529	W>R		No	ClinGen TOPMed
CA195471866 rs1013211483	534	K>R		No	ClinGen gnomAD
CA373911291 rs1337872597	535	E>G		No	ClinGen TOPMed
rs748489931 CA5104838	540	F>L		No	ClinGen ExAC gnomAD
CA5104834 rs373942452	543	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs746507834 CA5104836	543	G>R		No	ClinGen ExAC TOPMed gnomAD
CA5104835 rs746507834	543	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1403165279 CA373911195	544	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1445183646 CA373911179	545	Q>H		No	ClinGen gnomAD
CA373911180 rs1165189403	545	Q>P		No	ClinGen gnomAD
CA373911157 rs1304211785	547	Y>C		No	ClinGen gnomAD
rs1353923490 CA373910575	550	I>V		No	ClinGen gnomAD
CA5104822 COSM1226220 rs201060612	551	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs747607766 CA195470756	551	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA373910553 rs747607766	551	R>L		No	ClinGen TOPMed gnomAD
rs201060612 CA195470759	551	R>S		No	ClinGen ExAC TOPMed gnomAD
CA195470754 rs184620681	553	E>Q		No	ClinGen 1000Genomes
rs746679335 CA5104820	556	A>T		No	ClinGen ExAC TOPMed gnomAD
rs112950285 CA195470751	556	A>V		No	ClinGen Ensembl
CA373910456 rs1270504583	557	T>A		No	ClinGen gnomAD
CA5104819 rs762396296	558	Y>*		No	ClinGen ExAC TOPMed
CA195470750 rs1029476248	559	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs768419417 CA5104816	560	L>V		No	ClinGen ExAC gnomAD
CA5104815 rs746703852	561	C>S		No	ClinGen ExAC TOPMed gnomAD
CA373910365 rs1339105870	562	G>V		No	ClinGen TOPMed
rs146066088 CA373910362	563	F>I		No	ClinGen 1000Genomes ExAC gnomAD
CA5104814 rs146066088	563	F>L		No	ClinGen 1000Genomes ExAC gnomAD
rs771663064 CA195470738	564	A>P		No	ClinGen ExAC
rs771663064 CA5104813	564	A>T		No	ClinGen ExAC
CA5104811 rs778850020	567	G>E		No	ClinGen ExAC gnomAD
CA5104812 rs777123804	567	G>R		No	ClinGen ExAC TOPMed gnomAD
CA195470730 rs200468466	570	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA5104809 rs749101126	572	V>M		No	ClinGen ExAC TOPMed gnomAD
CA5104807 rs755170584	574	G>S		No	ClinGen ExAC TOPMed gnomAD
rs757957901 CA5104806	575	G>*		No	ClinGen ExAC TOPMed gnomAD
rs757957901 COSM1226219 CA5104805	575	G>R	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA373910107 rs1467768698	575	G>V		No	ClinGen gnomAD
CA373910088 rs1318940471	576	L>P		No	ClinGen gnomAD
rs890001815 CA195470492	578	S>F		No	ClinGen Ensembl
CA5104782 rs536865520	579	M>V		No	ClinGen 1000Genomes ExAC gnomAD
CA5104781 rs764732504	580	A>T		No	ClinGen ExAC gnomAD
CA5104780 rs761056097	581	P>L		No	ClinGen ExAC TOPMed gnomAD
rs761056097 CA373909780	581	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1564142972 CA373909766	582	S>F		No	ClinGen Ensembl
CA195470483 rs765448644	582	S>P		No	ClinGen Ensembl
COSM85168 rs753167663 CA5104779	585	R>C	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs11568398 CA5104778 VAR_039677	585	R>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA373909672 rs1489869322	586	D>H		No	ClinGen TOPMed
CA373909669 rs1489869322	586	D>N		No	ClinGen TOPMed
rs1037170900 CA195470474	588	A>T		No	ClinGen TOPMed gnomAD
rs773885508 CA5104776	589	S>*		No	ClinGen ExAC gnomAD
rs773885508 CA373909580	589	S>L		No	ClinGen ExAC gnomAD
CA5104773 rs146932624	590	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA373909560 rs1262786569	590	G>R		No	ClinGen gnomAD
rs1314341405 CA373909542	591	A>T		No	ClinGen gnomAD
rs1450392024 CA373909513	592	V>A		No	ClinGen TOPMed gnomAD
CA5104770 rs780917335	593	R>T		No	ClinGen ExAC TOPMed gnomAD
rs1381161592 CA373909489	594	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1325894006 CA373909466	595	L>P		No	ClinGen TOPMed gnomAD
rs1325894006 CA373909469	595	L>Q		No	ClinGen TOPMed gnomAD
CA5104769 rs772306778	596	I>T		No	ClinGen ExAC gnomAD
rs746125522 CA5104768	597	A>V	Variant assessed as Somatic; 4.676e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	600	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5104764 rs551847829	600	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs142877411 CA5104763	601	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
VAR_039678	602	C>R	lower concentrative capacity and altered sodium binding capacity [UniProt]	No	UniProt
rs1229137216 CA373909338	603	F>C		No	ClinGen TOPMed
CA5104760 rs759963398	608	I>V		No	ClinGen ExAC gnomAD
CA5104758 rs377557715	609	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA373909228 rs1490235117	610	G>S		No	ClinGen gnomAD
CA5104738 rs201568024	611	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA5104737 rs764776612	613	S>F		No	ClinGen ExAC gnomAD
CA373908562 rs761334565	614	S>C		No	ClinGen ExAC gnomAD
rs761334565 CA5104736	614	S>G		No	ClinGen ExAC gnomAD
CA373908565 rs761334565	614	S>R		No	ClinGen ExAC gnomAD
rs1181489223 CA373908538	615	T>I		No	ClinGen TOPMed gnomAD
rs760332361 CA5104733	617	V>A		No	ClinGen ExAC TOPMed gnomAD
rs760332361 CA373908512	617	V>E		No	ClinGen ExAC TOPMed gnomAD
rs764100543 CA5104734	617	V>M		No	ClinGen ExAC gnomAD
CA5104731 rs771244347	620	N>S		No	ClinGen ExAC gnomAD
rs1588553017 CA373908451	621	C>F		No	ClinGen Ensembl
rs1046253536 CA373908444	621	C>W		No	ClinGen TOPMed
rs367901217 CA5104729	624	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs141990386 CA5104728	626	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5104727 rs748263866	627	N>H		No	ClinGen ExAC gnomAD
CA373908354 rs1588552968	627	N>S		No	ClinGen Ensembl
rs1224996397 CA373908338	628	A>D		No	ClinGen gnomAD
CA373908332 rs1224996397	628	A>V		No	ClinGen gnomAD
CA5104725 rs138805274	632	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1213524373 CA373908235	632	T>N		No	ClinGen TOPMed
rs138805274 CA373908257	632	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA195470215 rs775016685	634	P>S		No	ClinGen TOPMed
rs925990245 CA195470212	637	T>K		No	ClinGen gnomAD
rs548288413 CA5104722	645	Q>*		No	ClinGen 1000Genomes ExAC
rs1043045258 CA195470201	646	S>N		No	ClinGen gnomAD
rs932726945 CA195470198	647	L>Q		No	ClinGen gnomAD
CA5104721 rs780438069	648	L>F		No	ClinGen ExAC gnomAD
CA5104720 rs758025676	649	S>C		No	ClinGen ExAC gnomAD
CA373907900 rs1461115394	649	S>N		No	ClinGen TOPMed
CA5104705 rs776836919	652	V>I		No	ClinGen ExAC gnomAD
rs769014951 CA5104704	654	K>E		No	ClinGen ExAC gnomAD
CA373907636 rs1446167536	655	G>C		No	ClinGen gnomAD
CA195469908 rs1056167883	658	E>A		No	ClinGen TOPMed
TCGA novel	659	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5104702 rs780560969	659	V>D		No	ClinGen ExAC gnomAD
rs772386846 CA5104701	660	I>T		No	ClinGen ExAC TOPMed gnomAD
rs773525342 CA5104700	661	P>R		No	ClinGen ExAC gnomAD
CA5104699 rs374998249	662	G>E		No	ClinGen ESP ExAC gnomAD
rs367576115 CA5104695	667	L>P		No	ClinGen ExAC TOPMed
CA5104696 rs564269056	667	L>V		No	ClinGen ExAC gnomAD
TCGA novel	669	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs146281604 CA5104694	670	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA5104693 rs767562584	675	T>I		No	ClinGen ExAC TOPMed gnomAD
CA195469886 rs772632851	678	N>T		No	ClinGen Ensembl
rs1369304385 CA373907379	680	S>L		No	ClinGen TOPMed gnomAD
CA5104688 rs762133696	681	T>I		No	ClinGen ExAC TOPMed gnomAD
rs765550441 CA5104690	681	T>P		No	ClinGen ExAC
rs748221995 CA5104685	684	C>*		No	ClinGen ExAC gnomAD
CA373907307 rs768734627	686	G>A		No	ClinGen ExAC gnomAD
rs768734627 CA5104684	686	G>V		No	ClinGen ExAC gnomAD
rs760701074 CA5104683	688	S>P		No	ClinGen ExAC gnomAD
CA373907287 rs1478601000	688	S>Y		No	ClinGen gnomAD
TCGA novel	689	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs985590516 CA195469868	689	N>S		No	ClinGen TOPMed
rs1316555925 CA867764815	692	F>L		No	ClinGen TOPMed

No associated diseases with Q9HAS3

3 regional properties for Q9HAS3

Type	Name	Position	InterPro Accession
domain	Concentrative nucleoside transporter N-terminal domain	206 - 277	IPR002668
domain	Nucleoside transporter/FeoB GTPase, Gate domain	286 - 382	IPR011642
domain	Concentrative nucleoside transporter C-terminal domain	388 - 610	IPR011657

Functions

		Description
EC Number
Subcellular Localization	[Isoform 1]: Cell membrane ; Multi-pass membrane protein ;
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
brush border membrane	The portion of the plasma membrane surrounding the brush border.
endoplasmic reticulum membrane	The lipid bilayer surrounding the endoplasmic reticulum.
integral component of plasma membrane	The component of the plasma 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.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

7 GO annotations of molecular function

Name	Definition
nucleoside transmembrane transporter activity	Enables the transfer of a nucleoside, a nucleobase linked to either beta-D-ribofuranose (ribonucleoside) or 2-deoxy-beta-D-ribofuranose, (a deoxyribonucleotide) from one side of a membrane to the other.
nucleoside:sodium symporter activity	Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: nucleoside(out) + Na+(out) = nucleoside(in) + Na+(in).
purine nucleobase transmembrane transporter activity	Enables the transfer of purine nucleobases, one of the two classes of nitrogen-containing ring compounds found in DNA and RNA, from one side of a membrane to the other.
purine-specific nucleoside:sodium symporter activity	Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: purine(out) + Na+(out) = nucleoside(in) + Na+(in).
pyrimidine- and adenine-specific:sodium symporter activity	Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: (pyrimidine nucleoside or adenine)(out) + Na+(out) = (pyrimidine nucleoside or adenine)(in) + Na+(in).
symporter activity	Enables the active transport of a solute across a membrane by a mechanism whereby two or more species are transported together in the same direction in a tightly coupled process not directly linked to a form of energy other than chemiosmotic energy.
uridine transmembrane transporter activity	Enables the transfer of uridine, uracil riboside, from one side of a membrane to the other.

7 GO annotations of biological process

Name	Definition
nucleoside transmembrane transport	The directed movement of nucleoside across a membrane.
purine nucleobase transmembrane transport	The process in which a purine nucleobase is transported across a membrane.
purine nucleoside transmembrane transport	The process in which a purine nucleoside is transported across a membrane. A purine nucleoside is a purine base covalently bonded to a ribose or deoxyribose sugar.
pyrimidine nucleoside transport	The directed movement of a pyrimidine nucleoside, a pyrimidine base covalently bonded to a ribose or deoxyribose sugar, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
pyrimidine-containing compound transmembrane transport	The process in which a pyrimidine-containing compound is transported across a membrane. A pyrimidine-containing compound is any compound that contains pyrimidine or a formal derivative thereof.
uridine transport	The directed movement of uridine, uracil riboside, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
xenobiotic transmembrane transport	The process in which a xenobiotic, a compound foreign to the organim exposed to it, is transported across a membrane. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MELRSTAAPR	AEGYSNVGFQ	NEENFLENEN	TSGNNSIRSR	AVQSREHTNT	KQDEEQVTVE
70	80	90	100	110	120
QDSPRNREHM	EDDDEEMQQK	GCLERRYDTV	CGFCRKHKTT	LRHIIWGILL	AGYLVMVISA
130	140	150	160	170	180
CVLNFHRALP	LFVITVAAIF	FVVWDHLMAK	YEHRIDEMLS	PGRRLLNSHW	FWLKWVIWSS
190	200	210	220	230	240
LVLAVIFWLA	FDTAKLGQQQ	LVSFGGLIMY	IVLLFLFSKY	PTRVYWRPVL	WGIGLQFLLG
250	260	270	280	290	300
LLILRTDPGF	IAFDWLGRQV	QTFLEYTDAG	ASFVFGEKYK	DHFFAFKVLP	IVVFFSTVMS
310	320	330	340	350	360
MLYYLGLMQW	IIRKVGWIML	VTTGSSPIES	VVASGNIFVG	QTESPLLVRP	YLPYITKSEL
370	380	390	400	410	420
HAIMTAGFST	IAGSVLGAYI	SFGVPSSHLL	TASVMSAPAS	LAAAKLFWPE	TEKPKITLKN
430	440	450	460	470	480
AMKMESGDSG	NLLEAATQGA	SSSISLVANI	AVNLIAFLAL	LSFMNSALSW	FGNMFDYPQL
490	500	510	520	530	540
SFELICSYIF	MPFSFMMGVE	WQDSFMVARL	IGYKTFFNEF	VAYEHLSKWI	HLRKEGGPKF
550	560	570	580	590	600
VNGVQQYISI	RSEIIATYAL	CGFANIGSLG	IVIGGLTSMA	PSRKRDIASG	AVRALIAGTV
610	620	630	640	650	660
ACFMTACIAG	ILSSTPVDIN	CHHVLENAFN	STFPGNTTKV	IACCQSLLSS	TVAKGPGEVI
670	680	690
PGGNHSLYSL	KGCCTLLNPS	TFNCNGISNT	F