AiPD: Autoinhibited Protein Database

Q9H0A0

Gene name	NAT10
Protein name	RNA cytidine acetyltransferase
Names	18S rRNA cytosine acetyltransferase, N-acetyltransferase 10, N-acetyltransferase-like protein, hALP
Species	Homo sapiens (Human)
KEGG Pathway	hsa:55226
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

39-112 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

39-112 (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

4 structures for Q9H0A0

Entry ID	Method	Resolution	Chain	Position	Source
6VLA	NMR	-	A	891-907	PDB
7MQ8	EM	360 A	NJ/NK	1-1025	PDB
7MQ9	EM	387 A	NJ/NK	1-1025	PDB
AF-Q9H0A0-F1	Predicted				AlphaFoldDB

832 variants for Q9H0A0

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA380035798 rs751981901	2	H>D		No	ClinGen ExAC TOPMed gnomAD
rs1173935817 CA380035804	2	H>L		No	ClinGen TOPMed gnomAD
CA5942091 rs751981901	2	H>N		No	ClinGen ExAC TOPMed gnomAD
rs1173935817 CA380035803	2	H>R		No	ClinGen TOPMed gnomAD
rs140188192 CA5942093	3	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753292389 CA5942095	3	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs140188192 CA5942092	3	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1395223866 CA380035817	4	K>E		No	ClinGen gnomAD
CA380035839 rs1304112079	5	K>M		No	ClinGen TOPMed
rs1304112079 TCGA novel CA380035837	5	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen TOPMed NCI-TCGA
CA380035860 rs1365244638	7	D>G		No	ClinGen TOPMed
rs1038724831 CA220402916	7	D>Y		No	ClinGen Ensembl
rs777397042 CA5942098	8	N>S		No	ClinGen ExAC gnomAD
COSM926596 CA5942100 rs756936856	9	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA380035881 rs1351549807	9	R>Q		No	ClinGen gnomAD
CA220402936 rs1031697980	10	I>M		No	ClinGen TOPMed gnomAD
rs745685344 CA5942102	11	R>L		No	ClinGen ExAC gnomAD
CA5942103 rs745685344	11	R>Q		No	ClinGen ExAC gnomAD
CA5942101 rs374897204	11	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs775375544 CA5942104	13	L>F		No	ClinGen ExAC TOPMed gnomAD
rs775375544 CA380035913	13	L>V		No	ClinGen ExAC TOPMed gnomAD
CA220402981 rs900294414	17	G>E		No	ClinGen Ensembl
rs773358163 CA380036008	21	R>L		No	ClinGen ExAC TOPMed gnomAD
CA5942108 rs773358163	21	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM926597 rs143567201 CA5942107	21	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs999814091 CA220402996	23	R>K		No	ClinGen Ensembl
rs377521480 CA5942109	24	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA380036042 rs377521480	24	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1348879373 CA380036063	27	V>I		No	ClinGen gnomAD
CA5942110 rs766659522	28	V>I		No	ClinGen ExAC gnomAD
CA5942111 rs371035269	29	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA380036087 rs1377837901	29	V>F		No	ClinGen gnomAD
rs184510181 CA5942112	30	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs768057491 CA5942113	31	D>N		No	ClinGen ExAC TOPMed gnomAD
rs753240917 COSM926598 CA220403005	32	R>*	Variant assessed as Somatic; 0.0 impact. skin endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs753240917 CA5942114	32	R>G		No	ClinGen ExAC TOPMed gnomAD
CA380036116 rs1330560566	32	R>Q		No	ClinGen TOPMed gnomAD
rs761255172 CA5942116	34	K>*		No	ClinGen ExAC gnomAD
CA380036138 rs1565105022	34	K>R		No	ClinGen Ensembl
rs867960570 CA220403021	36	Q>*		No	ClinGen Ensembl
TCGA novel	39	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761045081 CA5942135	39	I>V		No	ClinGen ExAC gnomAD
CA380036204 rs1264983018	41	H>N		No	ClinGen TOPMed
rs1565105246 CA380036214	42	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs754350515 CA5942137	43	M>T		No	ClinGen ExAC gnomAD
rs764683148 CA5942136	43	M>V		No	ClinGen ExAC gnomAD
rs761355482 CA5942138	44	L>V		No	ClinGen ExAC gnomAD
CA380036238 rs1222887949	45	S>F		No	ClinGen gnomAD
rs534066272 CA5942139	50	K>N		No	ClinGen 1000Genomes ExAC gnomAD
CA5942141 rs758062189	52	R>L		No	ClinGen ExAC TOPMed gnomAD
CA5942142 rs758062189	52	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5942140 rs552744350 COSM1297993	52	R>W	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1356827505 CA380036290	54	S>L		No	ClinGen gnomAD
rs776533696 CA220403373	54	S>P		No	ClinGen Ensembl
rs1384756455 CA380036295	55	V>A		No	ClinGen TOPMed
rs61735314 CA5942147	59	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5942148 rs150022391	60	K>R		No	ClinGen ESP ExAC gnomAD
rs746018093 CA5942149	61	K>T		No	ClinGen ExAC gnomAD
rs772453274 CA5942150	62	E>A		No	ClinGen ExAC TOPMed gnomAD
rs1157989660 CA380036356	64	G>A		No	ClinGen TOPMed
rs1361415114 CA380036371	66	S>I		No	ClinGen gnomAD
rs770318887 CA5942173	68	H>Y		No	ClinGen ExAC gnomAD
rs1238911472 CA380036664	69	R>Q		No	ClinGen gnomAD
rs569420154 CA5942174	69	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	70	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765851151 CA5942176	73	M>K		No	ClinGen ExAC gnomAD
rs538386063 CA5942177	74	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA5942178 rs558723919	74	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs558723919 CA380036720	74	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA380036755 rs1265911478	78	K>E		No	ClinGen TOPMed
CA5942180 rs752568706	81	K>E		No	ClinGen ExAC
rs756065274 CA5942181	81	K>R		No	ClinGen ExAC gnomAD
CA220405657 rs1048857609	82	N>S		No	ClinGen TOPMed gnomAD
CA380036806 rs1048857609	82	N>T		No	ClinGen TOPMed gnomAD
rs1445393998 CA380036839	85	L>P		No	ClinGen TOPMed gnomAD
CA380036836 rs1445393998	85	L>Q		No	ClinGen TOPMed gnomAD
CA5942184 rs143140314	86	N>H		No	ClinGen ESP ExAC gnomAD
rs780055048 CA5942185	87	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1300368202 CA380036858	87	I>T		No	ClinGen TOPMed gnomAD
CA220405698 rs1006206686	87	I>V		No	ClinGen gnomAD
rs1258619885 CA380036877	89	Q>R		No	ClinGen gnomAD
rs1590760482 CA380036904	91	D>A		No	ClinGen Ensembl
TCGA novel	92	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1590760491 CA380036966	94	E>D		No	ClinGen Ensembl
rs1367593202 CA380037000	97	I>V		No	ClinGen TOPMed
rs748538256 CA5942190	98	A>E		No	ClinGen ExAC TOPMed gnomAD
CA5942188 rs781583549	98	A>P		No	ClinGen ExAC TOPMed gnomAD
rs748538256 CA5942189	98	A>V		No	ClinGen ExAC TOPMed gnomAD
CA5942191 rs369518980	100	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA380037036 rs1464951092	101	N>D		No	ClinGen TOPMed
CA220405748 rs368151624	103	R>C		No	ClinGen ESP TOPMed gnomAD
rs770413727 CA5942193 COSM926600	103	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1326303861 CA380037082	104	Y>*		No	ClinGen gnomAD
CA5942194 rs773735710	104	Y>C		No	ClinGen ExAC gnomAD
rs1451769812 CA380037085	105	C>R		No	ClinGen TOPMed
CA220405779 rs953538948	106	Y>H		No	ClinGen Ensembl
rs1245812338 CA380037117	107	Y>C		No	ClinGen TOPMed
rs759186425 CA5942195	108	N>S		No	ClinGen ExAC gnomAD
rs569801712 CA220405799	109	E>K		No	ClinGen gnomAD
CA380037172 rs1220233903	112	K>E		No	ClinGen gnomAD
rs1056314102 CA220405811	113	I>V		No	ClinGen TOPMed gnomAD
CA380037198 rs1212688072	114	L>R		No	ClinGen gnomAD
rs764047684 CA5942199	119	G>S		No	ClinGen ExAC TOPMed gnomAD
CA5942201 rs761670685	120	M>L		No	ClinGen ExAC gnomAD
CA380037258 rs1194859763	120	M>T		No	ClinGen gnomAD
rs1021018885 CA220405815	122	V>M		No	ClinGen TOPMed gnomAD
CA5942203 rs577409521	124	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
CA380037748 rs1379437127	125	D>Y		No	ClinGen gnomAD
rs752854377 CA5942224	127	E>D		No	ClinGen ExAC TOPMed gnomAD
rs201730594 CA380037796	128	A>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201730594 CA5942225	128	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1202701453 CA380037823	130	T>I		No	ClinGen gnomAD
CA220407100 rs1014412725	132	N>D		No	ClinGen TOPMed gnomAD
rs778826697 CA220407105	133	L>F		No	ClinGen TOPMed gnomAD
CA220407108 rs918593367	135	A>T		No	ClinGen TOPMed
rs1353759501 CA380037889	136	R>S		No	ClinGen TOPMed gnomAD
rs1413989525 CA380037894	137	T>A		No	ClinGen gnomAD
CA5942227 rs754172923	140	T>A		No	ClinGen ExAC gnomAD
rs757687750 CA5942228	141	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs746453112 CA5942231	144	G>D		No	ClinGen ExAC gnomAD
rs779256457 CA5942230	144	G>S		No	ClinGen ExAC TOPMed gnomAD
CA380037995 rs1402876360	145	G>R		No	ClinGen gnomAD
TCGA novel	146	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5942232 rs757832661	146	L>P		No	ClinGen ExAC gnomAD
rs1048464232 CA220407156	147	V>L		No	ClinGen TOPMed gnomAD
CA380038023 rs1590761659	148	V>I		No	ClinGen Ensembl
rs1590761685 CA380038071	152	R>Q		No	ClinGen Ensembl
COSM926601 CA5942233 rs149812318	152	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs747876146 CA5942237	159	Q>E		No	ClinGen ExAC gnomAD
rs1254373695 CA380038158	161	Y>H		No	ClinGen TOPMed
rs769674662 CA5942238	162	T>I		No	ClinGen ExAC TOPMed gnomAD
rs769674662 CA380038169	162	T>R		No	ClinGen ExAC TOPMed gnomAD
rs1260408603 CA380038172	163	V>L		No	ClinGen TOPMed gnomAD
TCGA novel	163	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767514829 CA380038182	165	M>L		No	ClinGen ExAC TOPMed gnomAD
rs767514829 CA5942241	165	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1425750471 CA380038713	166	D>E		No	ClinGen gnomAD
rs764218708 CA5942261	166	D>G		No	ClinGen ExAC TOPMed gnomAD
CA220408911 rs372913061	167	V>G		No	ClinGen Ensembl
CA380038724 rs1332266078	168	H>Q		No	ClinGen TOPMed
CA220408917 rs370756170	168	H>R		No	ClinGen ESP TOPMed
TCGA novel	169	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1414038406 CA380038727	169	S>P		No	ClinGen TOPMed
TCGA novel	172	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380038760 rs1420335548	173	T>I		No	ClinGen TOPMed
TCGA novel	174	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1478007234 CA380038773	175	A>G		No	ClinGen gnomAD
rs1478007234 CA380038774	175	A>V		No	ClinGen gnomAD
CA5942263 rs776714467	178	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1169521306 CA380038793	178	D>H		No	ClinGen gnomAD
CA5942262 rs776714467	178	D>V		No	ClinGen ExAC TOPMed gnomAD
CA380038817 rs1423298266	182	R>K		No	ClinGen TOPMed
CA220408975 rs1032476011	183	F>C		No	ClinGen TOPMed
CA220408948 rs1032476011	183	F>Y		No	ClinGen TOPMed
rs374829766 CA220408982	185	E>K		No	ClinGen Ensembl
rs1459650606 CA380038845	186	R>K		No	ClinGen gnomAD
CA380039264 rs1389461541	188	I>V		No	ClinGen gnomAD
rs753549575 CA5942292	191	L>V		No	ClinGen ExAC gnomAD
CA5942294 rs778685348	193	S>F		No	ClinGen ExAC gnomAD
CA5942293 rs757042673	193	S>P		No	ClinGen ExAC gnomAD
rs1282198780 CA380039342	194	C>F		No	ClinGen TOPMed
TCGA novel	196	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs369790702 CA5942296	197	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA5942299 rs748227063	199	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs748227063 CA5942298	199	V>L		No	ClinGen ExAC TOPMed gnomAD
CA220410613 rs200111530	200	I>T		No	ClinGen Ensembl
rs773551563 CA5942300	201	D>G		No	ClinGen ExAC gnomAD
CA5942301 rs763330010	202	D>N		No	ClinGen ExAC gnomAD
rs527627222 CA5942303	203	Q>*		No	ClinGen 1000Genomes ExAC gnomAD
rs527627222 CA5942302	203	Q>K		No	ClinGen 1000Genomes ExAC gnomAD
CA5942304 rs373094620	203	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1313905515 CA380039458	205	N>S		No	ClinGen TOPMed gnomAD
rs1035124146 CA220410665	206	I>M		No	ClinGen TOPMed gnomAD
CA380039481 rs760221122	209	I>N		No	ClinGen ExAC TOPMed gnomAD
rs760221122 CA5942307	209	I>T		No	ClinGen ExAC TOPMed gnomAD
rs753196669 CA5942306	209	I>V		No	ClinGen ExAC gnomAD
CA5942309 rs200281086 COSM926603	213	V>I	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs756917690 CA380039546	215	T>A		No	ClinGen ExAC gnomAD
rs756917690 CA5942310	215	T>P		No	ClinGen ExAC gnomAD
rs1434267446 CA380039571	216	M>I		No	ClinGen gnomAD
CA5942311 rs764963032	216	M>T		No	ClinGen ExAC gnomAD
rs1176072072 CA380039578	217	E>*		No	ClinGen gnomAD
rs1012270918 CA220410700	218	A>P		No	ClinGen TOPMed
CA220410692 rs1012270918	218	A>T		No	ClinGen TOPMed
RCV000888949 CA5942313 rs35674959	224	P>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5942340 rs746145937	225	D>G		No	ClinGen ExAC gnomAD
CA220414211 rs910899451	226	E>G		No	ClinGen Ensembl
rs374071566 CA380040126	229	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA5942341 rs374071566	229	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA5942342 rs374071566	229	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA5942343 rs747501763	231	S>C		No	ClinGen ExAC gnomAD
CA5942344 rs138465328	232	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs761289589 CA5942346	234	E>A		No	ClinGen ExAC gnomAD
CA380040230 rs764782708	237	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1428437936 CA380040233	238	L>M		No	ClinGen gnomAD
rs367962262 CA5942349	240	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1196803415 CA380040267	240	E>G		No	ClinGen TOPMed
rs149605086 CA5942350	243	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA380040328 rs1590764637	245	T>P		No	ClinGen Ensembl
CA5942351 rs144347888	246	Q>E		No	ClinGen ESP ExAC TOPMed
rs144347888 CA380040338	246	Q>K		No	ClinGen ESP ExAC TOPMed
CA380040359 rs1313024322	247	P>T		No	ClinGen gnomAD
rs902319331 CA220414297	248	V>M		No	ClinGen TOPMed
rs759420020 CA5942352	249	G>A		No	ClinGen ExAC gnomAD
rs767544123 CA5942353	250	V>E		No	ClinGen ExAC gnomAD
CA5942354 rs767544123	250	V>G		No	ClinGen ExAC gnomAD
rs1565109551 CA380040390	250	V>M		No	ClinGen Ensembl
CA380040410 COSM174729 rs1309896070	251	L>F	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA220414335 rs554929403	255	C>W		No	ClinGen 1000Genomes gnomAD
CA5942357 rs779140576	258	L>V		No	ClinGen ExAC TOPMed gnomAD
rs750603371 CA380040477	259	D>H		No	ClinGen ExAC gnomAD
CA5942358 rs750603371	259	D>Y		No	ClinGen ExAC gnomAD
rs376848619 CA220417224	263	A>V		No	ClinGen ESP TOPMed
rs140175046 CA5942384	264	V>L		No	ClinGen ESP ExAC
CA5942385 rs371140580	268	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA380041646 rs1249207499	269	E>G		No	ClinGen gnomAD
CA220417228 rs1052004026	269	E>K		No	ClinGen TOPMed gnomAD
CA5942389 rs748712610	270	G>A		No	ClinGen ExAC TOPMed gnomAD
rs748712610 CA5942388	270	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1344804150 CA380041685	272	S>P		No	ClinGen TOPMed
CA5942391 rs759270288	276	L>P		No	ClinGen ExAC gnomAD
rs775450573 CA5942393	277	R>K		No	ClinGen ExAC gnomAD
rs1167623991 CA380041761	278	S>T		No	ClinGen gnomAD
rs912210828 CA220417294	279	T>A		No	ClinGen TOPMed
rs760650469 CA5942394	279	T>I		No	ClinGen ExAC gnomAD
CA5942396 rs776678760	280	V>I		No	ClinGen ExAC gnomAD
rs758573486 CA220417311	281	A>G		No	ClinGen Ensembl
rs1403436090 CA380041837	284	A>V		No	ClinGen gnomAD
CA220417317 rs939710595	285	A>S		No	ClinGen TOPMed gnomAD
rs1298201015 CA380041851	286	R>*		No	ClinGen TOPMed gnomAD
CA220417320 rs754416795	286	R>Q		No	ClinGen Ensembl
CA5942400 rs373535671	288	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs373535671 CA5942399	288	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs766545139 CA5942398	288	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	289	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5942403 rs756507373	293	A>T		No	ClinGen ExAC gnomAD
rs376383993 CA5942404	294	L>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs370205958 CA5942406	297	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA380041999 rs1263575708	298	I>M		No	ClinGen gnomAD
CA380042003 rs1428959264	299	A>S		No	ClinGen gnomAD
CA5942408 rs201610017	301	A>V	Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA380042026 rs1590767856	302	V>G		No	ClinGen Ensembl
rs775322184 CA5942410	302	V>M		No	ClinGen ExAC gnomAD
rs1365435416 CA380042040	304	F>L		No	ClinGen gnomAD
CA380042071 rs1309004001	307	S>C		No	ClinGen gnomAD
CA220418061 rs770492925	308	N>D		No	ClinGen Ensembl
CA5942435 rs368444330	308	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs775627075 CA5942436	312	T>I		No	ClinGen ExAC gnomAD
TCGA novel	313	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5942438 rs764320498	318	N>S		No	ClinGen ExAC gnomAD
CA5942439 rs151054334	320	H>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA220418096 rs776208510	320	H>Y		No	ClinGen Ensembl
CA5942440 rs762126537	321	T>S		No	ClinGen ExAC gnomAD
rs139800295 CA5942441	322	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	326	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751029742 CA5942442	329	G>V		No	ClinGen ExAC gnomAD
CA5942443 rs149713426	330	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA220418152 rs999721309	333	L>R		No	ClinGen Ensembl
CA380042240 rs1289130325	333	L>V		No	ClinGen TOPMed gnomAD
rs1431883944 CA380042263	336	Q>R		No	ClinGen gnomAD
rs1461083385 CA380042301	340	D>H		No	ClinGen gnomAD
CA5942456 rs776769551	341	Y>C		No	ClinGen ExAC gnomAD
rs1049196531 CA220418491	341	Y>N		No	ClinGen TOPMed
CA5942459 rs765762293	344	I>F		No	ClinGen ExAC gnomAD
rs765762293 CA5942458	344	I>V		No	ClinGen ExAC gnomAD
rs1347350636 CA598448530	345	Q>*		No	ClinGen gnomAD
CA220418556 rs554970145	345	Q>R		No	ClinGen Ensembl
TCGA novel	347	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380042348 rs1365312882	347	L>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA220418558 rs148295060	351	F>L		No	ClinGen 1000Genomes
CA5942460 rs549960154	355	V>A		No	ClinGen 1000Genomes ExAC
CA220418568 rs1045755124	357	R>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs765937549 CA5942461	358	V>M		No	ClinGen ExAC gnomAD
rs1306960471 CA380042428	359	N>Y		No	ClinGen gnomAD
rs1268846838 CA380042441	361	F>L		No	ClinGen TOPMed
CA5942462 COSM926606 rs751108174	362	R>*	Variant assessed as Somatic; 9.25e-05 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA220418589 rs887949387	362	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA220418595 rs376062963	363	E>D		No	ClinGen ESP TOPMed gnomAD
rs1294525589 CA380042453	363	E>Q		No	ClinGen gnomAD
rs1356359432 CA380042466	365	R>G		No	ClinGen TOPMed
CA5942463 rs570195769	365	R>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1565112346 CA380042476	366	Q>R		No	ClinGen Ensembl
CA5942464 rs780873019	367	T>S		No	ClinGen ExAC gnomAD
CA380042489 rs1237797630	368	I>T		No	ClinGen TOPMed
rs898676939 CA220420746	371	I>T		No	ClinGen Ensembl
CA380042825 rs1206416997	372	H>P		No	ClinGen gnomAD
rs1206416997 CA380042826	372	H>R		No	ClinGen gnomAD
CA380042824 rs1463871042	372	H>Y		No	ClinGen gnomAD
rs1442829245 CA380042834	373	P>L		No	ClinGen TOPMed
TCGA novel	374	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778898900 CA5942488	377	V>M		No	ClinGen ExAC gnomAD
CA380042870 rs1305926944	379	L>V		No	ClinGen TOPMed
CA5942490 rs147832913	385	V>A		No	ClinGen ESP ExAC gnomAD
CA380042923 rs1311459392	387	I>T		No	ClinGen gnomAD
CA5942493 rs770171008	392	A>T		No	ClinGen ExAC gnomAD
CA5942494 rs773604567	393	I>V		No	ClinGen ExAC gnomAD
rs147022056 CA5942495	394	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5942498 rs774913808	397	L>*		No	ClinGen ExAC gnomAD
CA5942500 rs759976780	398	V>A		No	ClinGen ExAC
CA380042990 rs1443551383	398	V>L		No	ClinGen gnomAD
rs779606778 CA5942502	402	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1411718401 CA380043021	403	G>C		No	ClinGen TOPMed
CA5942503 rs760222286	404	P>L		No	ClinGen ExAC gnomAD
CA380043030 rs1264559242	405	Y>H		No	ClinGen gnomAD
CA380043039 rs1214845923	406	L>V		No	ClinGen Ensembl
rs1181851214 CA380043045	407	V>L		No	ClinGen TOPMed
rs372533774 CA5942505	409	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs372533774 CA5942504	409	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA380043094 rs1180421291	414	N>S		No	ClinGen TOPMed
CA380043408 rs1485900688	416	Y>C		No	ClinGen TOPMed gnomAD
rs1390436223 CA380043423	418	G>D		No	ClinGen gnomAD
CA5942531 rs754067052	419	T>A		No	ClinGen ExAC
rs570820436 CA5942533	421	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5942532 rs757454002	421	R>W		No	ClinGen ExAC TOPMed gnomAD
CA380043445 rs1228410751	422	S>L		No	ClinGen gnomAD
CA380043459 rs1242122696	425	L>F		No	ClinGen TOPMed
CA380043467 rs1320626807	426	K>R		No	ClinGen TOPMed
rs1339529635 CA380043472	427	L>V		No	ClinGen gnomAD
CA5942535 rs772547003	428	I>S		No	ClinGen ExAC TOPMed gnomAD
CA5942537 rs780534353	431	L>F		No	ClinGen ExAC TOPMed gnomAD
CA5942538 rs747520569	432	R>C		No	ClinGen ExAC gnomAD
CA5942539 rs543860297	432	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	432	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5942540 rs147641652	433	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA380043531 rs149021799	436	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1216646 CA5942542 rs149021799	436	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA380043536 rs1167427092	437	Q>E		No	ClinGen TOPMed
CA380043553 rs1446571309	439	Q>E		No	ClinGen gnomAD
rs772967034 CA5942543	441	S>N		No	ClinGen ExAC gnomAD
CA5942544 rs183358693	442	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA380043603 rs1159851636	446	N>K		No	ClinGen TOPMed
CA5942546 rs751472924	448	T>N		No	ClinGen ExAC TOPMed gnomAD
rs555950800 CA5942547	449	T>M		No	ClinGen ExAC TOPMed gnomAD
rs148211973 CA5942548 COSM170134	450	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA380043643 rs1313284738	453	R>T		No	ClinGen gnomAD
rs1207722868 CA380043655	455	A>S		No	ClinGen TOPMed
CA220423188 rs375060299	455	A>V		No	ClinGen ESP TOPMed gnomAD
CA380043664 rs1260803802	456	S>L		No	ClinGen TOPMed
CA380043681 rs755508883	457	A>G		No	ClinGen ExAC gnomAD
CA5942577 rs755508883	457	A>V		No	ClinGen ExAC gnomAD
CA5942580 rs770678197	458	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5942579 rs143254503	458	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5942581 rs774198862	459	T>I		No	ClinGen ExAC gnomAD
CA5942582 rs745648324	460	L>P		No	ClinGen ExAC gnomAD
rs775224787 CA5942584	461	Y>C		No	ClinGen ExAC gnomAD
VAR_059858 rs2957516 CA5942583	461	Y>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5942585 rs760676490	463	V>F		No	ClinGen ExAC gnomAD
CA380043708 rs760676490	463	V>I		No	ClinGen ExAC gnomAD
rs1253347709 CA380043718	464	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1347233552 CA380043729	466	Q>R		No	ClinGen gnomAD
rs1220012305 CA380043737	467	E>G		No	ClinGen gnomAD
rs111341056 CA380043742	468	S>A		No	ClinGen TOPMed
rs111341056 CA220423619	468	S>P		No	ClinGen TOPMed
rs765183435 CA5942586	470	R>*		No	ClinGen ExAC TOPMed gnomAD
rs146685334 CA5942589	472	A>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5942588 rs773370564	472	A>S		No	ClinGen ExAC TOPMed gnomAD
rs773370564 CA5942587	472	A>T		No	ClinGen ExAC TOPMed gnomAD
rs146685334 CA5942590	472	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA380043769 rs1238571091	473	P>S		No	ClinGen TOPMed
rs1271475911 CA380043797	477	V>G		No	ClinGen gnomAD
CA5942592 rs767925226	477	V>M		No	ClinGen ExAC gnomAD
rs753084358 CA5942593	479	K>R		No	ClinGen ExAC gnomAD
rs753369038 CA5942596	481	L>P		No	ClinGen ExAC gnomAD
CA5942595 rs373766473	481	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1171919957 CA380043830	482	N>T		No	ClinGen gnomAD
rs1370710460 CA380043833	483	D>N		No	ClinGen TOPMed gnomAD
TCGA novel	483	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755248703 CA220423659	485	L>P		No	ClinGen Ensembl
CA380043852 rs1429014352	486	C>S		No	ClinGen gnomAD
rs768900502 CA220423666	489	C>F		No	ClinGen gnomAD
rs1367172919 CA380043887	491	N>D		No	ClinGen gnomAD
rs553656635 CA5942597	491	N>S		No	ClinGen ExAC TOPMed gnomAD
rs778707493 CA5942598	492	I>V		No	ClinGen ExAC TOPMed gnomAD
CA5942600 rs771935262	494	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5942599 rs138988892	494	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs779923293 CA5942601	495	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1156807537 CA380043915	496	V>I		No	ClinGen TOPMed
rs1565115285 CA380043941	498	G>D		No	ClinGen Ensembl
CA380043953 rs1226804779	499	C>*		No	ClinGen TOPMed gnomAD
CA380043965 rs1417739862	500	P>L		No	ClinGen gnomAD
rs768605764 CA5942603	501	L>W		No	ClinGen ExAC TOPMed gnomAD
CA380043990 rs1332677834	502	P>L		No	ClinGen gnomAD
rs776480746 CA5942604	503	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA380044052 rs763006405	507	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5942605 rs763006405	507	L>R		No	ClinGen ExAC TOPMed gnomAD
CA380044147 rs1332523360	509	Y>*		No	ClinGen gnomAD
rs1464013273 CA380044143	509	Y>C		No	ClinGen gnomAD
CA380044141 rs1464013273	509	Y>F		No	ClinGen gnomAD
rs558445588 CA5942620	509	Y>H		No	ClinGen 1000Genomes
rs558445588 CA5942621	509	Y>N		No	ClinGen 1000Genomes
CA380044199 rs1239067068	513	D>G		No	ClinGen TOPMed gnomAD
TCGA novel	513	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380044200 rs1239067068	513	D>V		No	ClinGen TOPMed gnomAD
CA380044217 rs1162646961	515	L>V		No	ClinGen gnomAD
CA220424180 rs879011281	518	Y>H		No	ClinGen Ensembl
CA220424201 rs1013698684	520	K>N		No	ClinGen TOPMed
rs140879112 CA5942625	520	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA220424207 rs1025136845	521	A>T		No	ClinGen TOPMed gnomAD
rs748078411 CA5942626	523	E>D		No	ClinGen ExAC gnomAD
CA5942627 rs770936080	525	F>L		No	ClinGen ExAC gnomAD
rs1455654163 CA380044367	526	L>F		No	ClinGen gnomAD
CA5942628 rs774433383	526	L>H		No	ClinGen ExAC gnomAD
CA380044385 rs759711543	528	R>G		No	ClinGen ExAC TOPMed gnomAD
rs374680907 CA5942631	528	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA5942630 rs759711543	528	R>W		No	ClinGen ExAC TOPMed gnomAD
CA220424252 rs981911173	529	L>F		No	ClinGen gnomAD
TCGA novel	529	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs981911173 CA380044389	529	L>V		No	ClinGen gnomAD
rs142148595 CA5942632	530	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs764375602 CA5942633	531	A>T		No	ClinGen ExAC TOPMed gnomAD
rs146382635 CA5942634	533	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs146382635 CA220424257	533	Y>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA220424279 rs774400250	534	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs749925063 CA5942637	535	A>S		No	ClinGen ExAC TOPMed gnomAD
CA380044436 rs1235691455	537	H>Y		No	ClinGen gnomAD
CA220424292 rs757893540	539	K>E		No	ClinGen ExAC TOPMed gnomAD
CA5942638 rs757893540	539	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA5942640 rs766037793	539	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5942639 rs766037793	539	K>T		No	ClinGen ExAC gnomAD
CA5942662 rs139767479	542	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139767479 CA5942661	542	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1407152294 CA380044485	543	N>D		No	ClinGen gnomAD
rs149555377 CA5942663	543	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1388916429 CA380044498	544	D>E		No	ClinGen TOPMed gnomAD
CA5942665 rs758446729	550	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1231801236 CA380044556	551	A>G		No	ClinGen gnomAD
rs1231801236 CA380044558	551	A>V		No	ClinGen gnomAD
rs1348302891 CA380044630	555	H>R		No	ClinGen TOPMed
CA5942666 rs780024212	557	F>L		No	ClinGen ExAC TOPMed gnomAD
rs200365213 CA380044656	557	F>S		No	ClinGen 1000Genomes ExAC gnomAD
rs200365213 CA5942667	557	F>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs768972603 CA5942669	561	P>S		No	ClinGen ExAC
CA5942672 rs748508562	563	V>M		No	ClinGen ExAC gnomAD
rs773784406 CA380044791	564	P>H		No	ClinGen ExAC TOPMed gnomAD
CA5942674 rs773784406	564	P>L		No	ClinGen ExAC TOPMed gnomAD
CA5942673 rs61735311	564	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1459714199 CA380044833	567	Q>L		No	ClinGen gnomAD
rs1390546992 CA380044880	570	L>V		No	ClinGen gnomAD
CA380044912 rs1385862844	571	P>L		No	ClinGen gnomAD
rs767132634 CA5942679	574	L>F		No	ClinGen ExAC TOPMed gnomAD
rs767132634 CA380044970	574	L>I		No	ClinGen ExAC TOPMed gnomAD
rs561909193 CA5942682	576	V>A		No	ClinGen 1000Genomes ExAC gnomAD
CA5942681 rs147822972	576	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs147822972 CA5942680	576	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs753761149 CA5942683	577	I>T		No	ClinGen ExAC
rs1246993651 CA380045033	578	Q>*		No	ClinGen gnomAD
rs1194853029 CA380045039	578	Q>L		No	ClinGen TOPMed gnomAD
CA380045205 rs1467166056	579	V>L		No	ClinGen TOPMed gnomAD
CA380045202 rs1467166056	579	V>M		No	ClinGen TOPMed gnomAD
CA380045224 rs1303303893	580	C>Y		No	ClinGen gnomAD
rs1401049924 CA380045259	582	E>Q		No	ClinGen TOPMed
rs752914219 CA5942707	585	I>L		No	ClinGen ExAC gnomAD
rs756436278 CA5942708	587	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5942709 rs778095767 COSM1627954	587	R>H	kidney liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs778095767 CA220426204	587	R>L		No	ClinGen ExAC TOPMed gnomAD
rs749592592 CA5942710	588	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA380045372 rs1200786434	588	Q>R		No	ClinGen TOPMed
rs771382736 CA5942711	589	S>C		No	ClinGen ExAC gnomAD
CA380045384 rs1305180802	589	S>P		No	ClinGen gnomAD
CA380045398 rs1296243002	590	I>V		No	ClinGen TOPMed
CA5942712 rs779223798	592	N>S		No	ClinGen ExAC gnomAD
CA380045475 rs1236294091	594	L>V		No	ClinGen TOPMed gnomAD
rs975693477 CA220426226	595	S>P		No	ClinGen TOPMed
CA5942713 rs370862984	596	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs771522746 CA5942714	596	R>Q		No	ClinGen ExAC gnomAD
rs768175245 CA5942718	600	A>S		No	ClinGen ExAC gnomAD
CA5942719 rs768175245	600	A>T		No	ClinGen ExAC gnomAD
CA5942720 rs761511280	601	S>L		No	ClinGen ExAC gnomAD
CA5942721 rs765083421	608	T>I		No	ClinGen ExAC gnomAD
rs1176157042 CA380045678	609	V>A		No	ClinGen gnomAD
rs1432768342 CA380045707	611	E>D		No	ClinGen TOPMed gnomAD
CA5942722 rs772962602	611	E>Q		No	ClinGen ExAC gnomAD
CA380045765 rs1170370022	613	F>C		No	ClinGen gnomAD
rs200721605 CA5942734	614	Q>*		No	ClinGen 1000Genomes ExAC gnomAD
rs373826063 CA220426421	615	D>N		No	ClinGen TOPMed gnomAD
rs1168057255 CA380045790	616	P>A		No	ClinGen gnomAD
rs1168057255 CA380045791	616	P>S		No	ClinGen gnomAD
rs746510961 CA5942735	617	D>G		No	ClinGen ExAC TOPMed gnomAD
CA220426456 rs903237711	619	G>D		No	ClinGen Ensembl
TCGA novel	620	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380045832 rs1342076018	622	S>F		No	ClinGen gnomAD
rs1434085046 CA380045846	624	G>V		No	ClinGen TOPMed
TCGA novel	627	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380045862 rs1322748157	627	V>G		No	ClinGen gnomAD
rs769422131 CA5942739	627	V>I		No	ClinGen ExAC TOPMed gnomAD
rs939143863 CA220426497	628	R>C		No	ClinGen TOPMed gnomAD
rs773168675 CA5942740	628	R>H		No	ClinGen ExAC TOPMed gnomAD
CA5942742 rs200962843	629	I>L		No	ClinGen ExAC TOPMed gnomAD
CA380045869 rs200962843	629	I>V		No	ClinGen ExAC TOPMed gnomAD
CA380045882 rs1248181508	631	V>L		No	ClinGen gnomAD
CA5942745 rs764248574	633	P>L		No	ClinGen ExAC TOPMed gnomAD
CA380045902 rs1415657847	634	D>H		No	ClinGen gnomAD
rs751959938 CA5942772	638	M>I		No	ClinGen ExAC TOPMed gnomAD
CA380045946 rs147631840	638	M>R		No	ClinGen ESP ExAC TOPMed
CA5942771 rs147631840	638	M>T		No	ClinGen ESP ExAC TOPMed
CA5942770 rs145242316	638	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA380045953 rs1483938246	639	G>D		No	ClinGen TOPMed gnomAD
CA380045955 rs1483938246	639	G>V		No	ClinGen TOPMed gnomAD
rs1590777946 CA380045962	640	Y>*		No	ClinGen Ensembl
CA220429625 rs888836034	640	Y>C		No	ClinGen TOPMed gnomAD
CA380045967 rs1335792898	641	G>A		No	ClinGen TOPMed
CA380045966 rs1335792898	641	G>D		No	ClinGen TOPMed
rs755536867 CA5942773	642	S>R		No	ClinGen ExAC gnomAD
rs200070922 CA220429630	642	S>R		No	ClinGen TOPMed
CA220429638 rs996022154	643	R>C		No	ClinGen TOPMed gnomAD
CA220429641 rs867596578	643	R>H		No	ClinGen gnomAD
CA380045978 rs867596578	643	R>L		No	ClinGen gnomAD
rs1426033073 CA380045996	646	Q>H		No	ClinGen gnomAD
CA380046017 rs781586743 CA5942774	650	M>L		No	ClinGen ExAC TOPMed gnomAD
CA380046016 rs781586743	650	M>V		No	ClinGen ExAC TOPMed gnomAD
rs752228317 CA5942775 COSM3719672	651	Y>C	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA220429655 rs1007331549	652	Y>C		No	ClinGen Ensembl
rs1308196003 CA380046050	654	G>A		No	ClinGen gnomAD
CA220429656 rs1023077723	654	G>S		No	ClinGen TOPMed
rs368361371 CA5942778	655	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs777561623 CA5942777	655	R>T		No	ClinGen ExAC TOPMed gnomAD
rs1590778004 CA380046058	656	F>V		No	ClinGen Ensembl
CA5942779 rs770802466	658	C>*		No	ClinGen ExAC TOPMed gnomAD
rs1590778018 CA380046085	660	E>G		No	ClinGen Ensembl
rs76447770 CA5942781	660	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA380046093 rs1590778024	661	E>G		No	ClinGen Ensembl
CA380046103 rs772024616	662	K>N		No	ClinGen ExAC
CA380046108 rs1250002785	663	V>D		No	ClinGen gnomAD
rs1436277432 CA380046116	664	L>R		No	ClinGen gnomAD
rs775351987 CA5942784	666	T>I		No	ClinGen ExAC gnomAD
CA380046142 rs1250426667	668	Q>L		No	ClinGen gnomAD
CA220429682 rs778791463	673	V>I		No	ClinGen TOPMed
rs372051291 CA220429685	675	S>N		No	ClinGen gnomAD
COSM1188204 rs773368813 CA5942787	676	E>K	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA380046245 rs1323257297	681	L>F		No	ClinGen gnomAD
CA5942807 rs749405641	683	E>G		No	ClinGen ExAC gnomAD
CA380046270 rs1590779195	685	I>F		No	ClinGen Ensembl
CA220430489 rs1000881534	685	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA380046274 rs140893294	686	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA5942810 rs140893294	686	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA5942812 rs776005823	687	P>L		No	ClinGen ExAC gnomAD
CA5942811 rs767775994	687	P>S		No	ClinGen ExAC gnomAD
rs527894514 CA5942814	688	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs150081419 CA5942813	688	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1590779234 CA380046299	690	D>A		No	ClinGen Ensembl
CA220430553 rs992300997	699	N>D		No	ClinGen Ensembl
rs764942080 CA380046358 CA5942818	699	N>K		No	ClinGen ExAC gnomAD
CA380046356 rs1465436377	699	N>S		No	ClinGen gnomAD
CA380046365 rs1484642985	700	E>D		No	ClinGen TOPMed
rs750053373 CA5942819	702	P>A		No	ClinGen ExAC TOPMed gnomAD
rs750053373 CA380046374	702	P>S		No	ClinGen ExAC TOPMed gnomAD
rs750053373 CA220430558	702	P>T		No	ClinGen ExAC TOPMed gnomAD
CA5942820 rs758157776	703	A>V		No	ClinGen ExAC TOPMed gnomAD
rs746905450 CA5942822	704	E>*		No	ClinGen ExAC gnomAD
rs746905450 COSM926611 CA5942823	704	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs781153327 CA5942824	705	R>C		No	ClinGen ExAC TOPMed gnomAD
rs145482727 CA5942825	705	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5942826 rs771064893	706	L>V		No	ClinGen ExAC TOPMed gnomAD
CA380046413 rs1453878497	709	L>M		No	ClinGen TOPMed gnomAD
CA380046416 rs1288156009	709	L>P		No	ClinGen gnomAD
CA5942828 rs369326894	710	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA380046426 rs1313244780	711	V>A		No	ClinGen gnomAD
CA380046423 rs1430779416	711	V>I		No	ClinGen TOPMed
rs772443478 CA5942830	712	S>T		No	ClinGen ExAC gnomAD
CA220430593 rs749306426	713	Y>C		No	ClinGen TOPMed gnomAD
rs1231657796 CA380046434	713	Y>N		No	ClinGen gnomAD
rs1413965590 CA380046441	714	G>S		No	ClinGen TOPMed
CA5942833 rs761172450	715	L>F		No	ClinGen ExAC
CA220430605 rs764687282	716	T>A		No	ClinGen ExAC TOPMed
CA5942836 rs777347192	716	T>I		No	ClinGen ExAC TOPMed gnomAD
CA380046454 rs777347192	716	T>N		No	ClinGen ExAC TOPMed gnomAD
CA5942835 rs764687282	716	T>S		No	ClinGen ExAC TOPMed
TCGA novel	718	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380046464 rs1565117767	718	R>K		No	ClinGen Ensembl
rs759259465 CA5942860	721	K>N		No	ClinGen ExAC TOPMed gnomAD
rs772895064 CA5942861	725	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5942862 rs752580650	725	R>Q		No	ClinGen ExAC gnomAD
CA5942863 rs755975033	726	A>T		No	ClinGen ExAC gnomAD
rs777816489 CA380046735	727	G>A		No	ClinGen ExAC TOPMed gnomAD
rs777816489 CA5942864	727	G>V		No	ClinGen ExAC TOPMed gnomAD
CA5942866 rs758571890	730	P>R		No	ClinGen ExAC gnomAD
CA380046763 rs1215565599	730	P>T		No	ClinGen TOPMed
CA380046782 rs1307322829	731	V>A		No	ClinGen gnomAD
rs780359105 CA5942867	731	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1025147164 CA380046790	732	Y>F		No	ClinGen gnomAD
CA380046785 rs1203335360	732	Y>H		No	ClinGen gnomAD
CA220430801 rs1025147164	732	Y>S		No	ClinGen gnomAD
CA5942869 rs769097484	736	T>I		No	ClinGen ExAC
rs781716877 CA5942870	737	P>L		No	ClinGen ExAC gnomAD
CA380046929 rs1345125617	738	N>K		No	ClinGen gnomAD
CA5942892 rs755224640	739	D>E		No	ClinGen ExAC gnomAD
TCGA novel	742	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5942895 rs756565845 COSM926612	742	G>R	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs778072472 CA5942896	743	E>G		No	ClinGen ExAC gnomAD
rs1224968001 CA380046973	745	S>L		No	ClinGen TOPMed gnomAD
CA380046979 rs1446343173	746	C>F		No	ClinGen TOPMed gnomAD
rs770377826 CA5942898	750	K>R		No	ClinGen ExAC gnomAD
rs137942423 CA5942900	751	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs137942423 CA5942899	751	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376535676 CA5942901	753	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA5942902 rs370581619	754	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA220432332 rs1029631063	756	D>G		No	ClinGen TOPMed gnomAD
rs1029631063 CA380047044	756	D>V		No	ClinGen TOPMed gnomAD
CA380047052 rs1407426051	757	E>V		No	ClinGen gnomAD
CA380047057 rs1304692399	758	A>T		No	ClinGen TOPMed
rs1298420117 CA380047068	759	D>E		No	ClinGen gnomAD
rs773357788 CA220432334	760	Q>E		No	ClinGen TOPMed
rs1361650178 CA380047072	760	Q>R		No	ClinGen gnomAD
rs1359108339 CA380047076	761	G>R		No	ClinGen TOPMed
CA5942903 rs760321986	762	G>S		No	ClinGen ExAC gnomAD
rs776385919 CA380047094	763	W>*		No	ClinGen ExAC TOPMed gnomAD
CA5942905 rs776385919	763	W>C		No	ClinGen ExAC TOPMed gnomAD
CA5942904 rs763965702	763	W>L		No	ClinGen ExAC gnomAD
CA5942906 rs761845821	765	A>P		No	ClinGen ExAC gnomAD
rs553338131 CA5942907	766	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA380047122 rs1353176086	768	W>*		No	ClinGen gnomAD
CA5942908 rs751663766	768	W>C		No	ClinGen ExAC gnomAD
rs764263367 CA5942932	771	F>Y		No	ClinGen ExAC gnomAD
rs754208731 CA5942933	772	R>*		No	ClinGen ExAC TOPMed gnomAD
CA5942934 rs371425797	772	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs963302450 CA220432514	773	R>Q		No	ClinGen TOPMed gnomAD
rs199955231 CA5942936	773	R>W		No	ClinGen ExAC TOPMed gnomAD
CA5942938 rs779649525	774	R>Q		No	ClinGen ExAC gnomAD
rs757857939 CA5942937	774	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5942940 rs768336283	775	F>L		No	ClinGen ExAC gnomAD
rs768336283 CA380047172	775	F>V		No	ClinGen ExAC gnomAD
CA5942942 rs747948775	777	A>D		No	ClinGen ExAC TOPMed gnomAD
rs780762003 CA5942941	777	A>T		No	ClinGen ExAC gnomAD
CA380047186 rs747948775	777	A>V		No	ClinGen ExAC TOPMed gnomAD
CA380047193 rs1463798966	778	L>F		No	ClinGen gnomAD
CA380047195 rs1489170406	779	L>F		No	ClinGen gnomAD
rs1327321820 CA380047205	780	S>F		No	ClinGen gnomAD
rs759471990 CA5942943	781	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs1440042192 CA380047215	782	Q>*		No	ClinGen gnomAD
rs1023664492 CA220432545	782	Q>R		No	ClinGen TOPMed
rs1208434679 CA380047232	784	S>I		No	ClinGen TOPMed gnomAD
CA380047238 rs1236857540	785	T>S		No	ClinGen gnomAD
CA220432556 rs971149308	787	S>P		No	ClinGen TOPMed gnomAD
CA220432559 rs867498285	788	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs773223753 CA5942944	789	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1269446906 CA380047273	790	L>R		No	ClinGen TOPMed gnomAD
CA5942946 rs764036678	794	I>V		No	ClinGen ExAC gnomAD
CA380047310 rs1590781820	796	Q>R		No	ClinGen Ensembl
rs1273856197 CA380047342	800	M>T		No	ClinGen gnomAD
rs1212307061 CA380047367	804	A>P		No	ClinGen TOPMed gnomAD
rs1212307061 CA380047368	804	A>S		No	ClinGen TOPMed gnomAD
CA5942947 rs775607306	804	A>V		No	ClinGen ExAC gnomAD
rs760717042 CA5942948	806	P>S		No	ClinGen ExAC gnomAD
rs1458118369 CA380047397	807	A>V		No	ClinGen TOPMed
rs766956292 CA5942976	810	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs754450173 CA5942975 COSM1216647	810	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA380047431 rs1380363775	812	E>D		No	ClinGen TOPMed
CA220433101 rs564952457	814	E>K		No	ClinGen gnomAD
CA5942978 rs755795306 COSM3687276	815	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA380047451 rs1456362733	816	L>F		No	ClinGen TOPMed
CA380047450 rs1456362733	816	L>V		No	ClinGen TOPMed
CA380047478 rs1488931867	820	Y>C		No	ClinGen TOPMed
rs1210170885 CA380047476	820	Y>H		No	ClinGen TOPMed
rs749080288 CA5942980	821	D>G		No	ClinGen ExAC gnomAD
CA5942981 rs371023260	822	L>V		No	ClinGen ESP ExAC TOPMed
rs142026665 CA5942984	824	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs199507528 CA380047502	824	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5942985 rs199507528	824	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5942983 rs142026665	824	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	825	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5942986 rs748279025	826	E>G		No	ClinGen ExAC gnomAD
rs773493824 CA5942989	830	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5942988 rs201422965	830	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1159879516 CA380047542	831	N>H		No	ClinGen TOPMed
rs1590192644 CA380047564	833	V>G		No	ClinGen Ensembl
CA5942991 rs766663086	834	D>E		No	ClinGen ExAC gnomAD
CA380047574 rs1015800918	835	Y>C		No	ClinGen TOPMed gnomAD
rs774870513 CA5942992	835	Y>D		No	ClinGen ExAC
rs1015800918 CA220433209	835	Y>S		No	ClinGen TOPMed gnomAD
CA5942996 rs138750317	837	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs752231428 CA5942997	839	M>T		No	ClinGen ExAC TOPMed gnomAD
CA220433237 rs149351119	839	M>V		No	ClinGen ESP TOPMed
rs147472257 CA5942999	840	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs755742164 CA5942998	840	D>G		No	ClinGen ExAC TOPMed gnomAD
CA5943002 rs139994690	841	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	841	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5943001 rs564078800	841	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs745718990 CA5943003	843	P>L		No	ClinGen ExAC TOPMed gnomAD
CA220433271 rs868597633 COSM1353647	844	A>T	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs748225818 CA5943006	845	I>M		No	ClinGen ExAC gnomAD
CA5943007 rs769864405	847	R>C		No	ClinGen ExAC TOPMed gnomAD
COSM1216645 rs777910148 CA5943008	847	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs777910148 CA380047650	847	R>L		No	ClinGen ExAC TOPMed gnomAD
COSM1235634 CA380047657 rs1461734477	848	I>M	Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1329369124 COSM1507935 CA380047675	851	L>V	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1565119587 CA380047699	854	L>R		No	ClinGen Ensembl
rs892398357 CA220433337	855	G>E		No	ClinGen TOPMed gnomAD
CA380047711 rs1452117216	856	D>E		No	ClinGen gnomAD
rs1325851226 CA380047707	856	D>N		No	ClinGen gnomAD
rs1052313043	856	D>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1365853894 CA380047720	858	A>S		No	ClinGen gnomAD
CA5943011 rs774546313	860	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA5943012 rs145204141	861	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA380047750 rs1214198764	863	Q>R		No	ClinGen gnomAD
CA5943015 rs760205132	864	S>L		No	ClinGen ExAC TOPMed gnomAD
CA220433672 rs913704852	865	A>S		No	ClinGen TOPMed gnomAD
CA5943040 rs751461455	866	L>F		No	ClinGen ExAC TOPMed gnomAD
CA380047774 rs751461455	866	L>I		No	ClinGen ExAC TOPMed gnomAD
rs984298048 CA220433685	868	L>S		No	ClinGen Ensembl
CA5943042 rs781241396	870	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1214172700 CA380047816	873	Q>*		No	ClinGen TOPMed gnomAD
rs1214172700 CA380047815	873	Q>E		No	ClinGen TOPMed gnomAD
CA380047818 rs1282273233	873	Q>R		No	ClinGen gnomAD
rs1590193071 CA380047824	874	H>Y		No	ClinGen Ensembl
CA5943043 rs753850727	876	S>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
CA5943044 rs147199387	877	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA220433729 rs921205686	882	K>E		No	ClinGen TOPMed gnomAD
rs746114824 CA5943046	883	E>A		No	ClinGen ExAC gnomAD
CA380047887 rs746114824	883	E>G		No	ClinGen ExAC gnomAD
rs1264806196 CA380047894	884	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA380047912 rs758794385	887	P>A		No	ClinGen ExAC TOPMed gnomAD
CA5943048 rs780534469	887	P>L		No	ClinGen ExAC TOPMed gnomAD
CA5943047 rs758794385	887	P>S		No	ClinGen ExAC TOPMed gnomAD
rs151223396 CA5943050	888	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs151223396 CA380047919	888	S>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5943052 rs747541429	889	G>V		No	ClinGen ExAC gnomAD
CA380047927 rs1246893673	890	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA380047931 rs1279694280	890	Q>H		No	ClinGen gnomAD
CA380047946 rs1287168419	892	M>I		No	ClinGen TOPMed
rs772695375 CA5943054	893	G>V		No	ClinGen ExAC gnomAD
CA5943055 rs143997956	894	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA5943056 rs766062723	896	N>S		No	ClinGen ExAC TOPMed gnomAD
CA5943058 rs759386401	897	R>Q		No	ClinGen ExAC gnomAD
rs1170993142 CA380047978	898	I>L		No	ClinGen TOPMed
CA380047986 rs1565119985	899	I>V		No	ClinGen Ensembl
CA5943061 rs375005009	900	R>C	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs375005009 CA380047992	900	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs765389946 CA5943063	900	R>H		No	ClinGen ExAC gnomAD
CA220433764 rs765389946	900	R>L		No	ClinGen ExAC gnomAD
CA5943062 rs375005009	900	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA5943064 rs750570995	901	K>E		No	ClinGen ExAC TOPMed gnomAD
CA380047994 rs750570995	901	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs1244833034 CA380048004	902	V>A		No	ClinGen TOPMed
rs146445845 CA5943065	902	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA220434118 rs985665671	905	L>V		No	ClinGen Ensembl
rs775251238 CA5943078	906	F>I		No	ClinGen ExAC TOPMed gnomAD
rs760629476 CA5943079	907	N>S		No	ClinGen ExAC gnomAD
rs943130073 CA220434119	910	Q>R		No	ClinGen TOPMed
rs1316702663 CA380048085	912	K>N		No	ClinGen TOPMed
CA5943081 rs763985144	915	E>*		No	ClinGen ExAC gnomAD
rs1430426591 CA380048103	915	E>G		No	ClinGen TOPMed
rs1178197211 CA380048111	916	E>G		No	ClinGen TOPMed
rs1009250933 CA220434125	918	M>L		No	ClinGen TOPMed
rs1020704115 CA220434127	918	M>T		No	ClinGen TOPMed
rs201926792 CA5943082	921	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1422226473 CA380048148	922	K>Q		No	ClinGen gnomAD
CA220434133 rs868309392	923	D>N		No	ClinGen gnomAD
rs766639482 CA5943084	924	V>L		No	ClinGen ExAC gnomAD
rs1391360080 CA380048173	926	M>L		No	ClinGen TOPMed gnomAD
CA5943085 rs751841451	926	M>R		No	ClinGen ExAC gnomAD
rs1391360080 CA380048174	926	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA5943087 rs140934116 RCV000965167	929	T>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs140934116 CA5943088	929	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs778313276 CA5943090	930	M>T		No	ClinGen ExAC
rs372867574 CA5943091	933	L>I		No	ClinGen ESP ExAC gnomAD
rs1310622427 CA380048230	934	S>T		No	ClinGen TOPMed
CA5943094 rs553463575	936	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5943116 rs746749335	942	K>*		No	ClinGen ExAC TOPMed gnomAD
CA220434561 rs988870001	945	Q>P		No	ClinGen Ensembl
rs201600938 CA5943117	948	H>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5943118 rs201600938	948	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769896312 CA5943120	950	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA380048364 rs1436775787	951	E>G		No	ClinGen gnomAD
TCGA novel	951	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774470787 CA5943121	953	G>V		No	ClinGen ExAC TOPMed gnomAD
CA380048401 rs1590193891	957	S>G		No	ClinGen Ensembl
rs916956578 CA220434597	957	S>N		No	ClinGen gnomAD
CA5943122 rs759596221	958	M>L		No	ClinGen ExAC TOPMed gnomAD
CA220434610 rs979947653	958	M>T		No	ClinGen Ensembl
CA5943123 rs200880136	959	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA380048415 rs1284205713	959	D>H		No	ClinGen gnomAD
CA220434614 rs946315602	961	S>C		No	ClinGen TOPMed gnomAD
CA380048430 rs946315602	961	S>Y		No	ClinGen TOPMed gnomAD
rs1217745164 CA380048463	964	I>T		No	ClinGen gnomAD
CA5943150 rs149217488	964	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA5943151 rs371394777	966	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA5943152 rs757873953	966	R>H		No	ClinGen ExAC TOPMed gnomAD
rs757873953 CA380048476	966	R>L		No	ClinGen ExAC TOPMed gnomAD
CA380048475 rs757873953	966	R>P		No	ClinGen ExAC TOPMed gnomAD
CA5943154 rs751116586	969	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1025537298 CA220435324	971	E>G		No	ClinGen Ensembl
rs148378865 CA5943156	972	W>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA380048514 rs1384666879	972	W>R		No	ClinGen gnomAD
rs1565121080 CA380048535	974	E>D		No	ClinGen Ensembl
TCGA novel	974	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747954861 CA5943157	977	N>D		No	ClinGen ExAC gnomAD
CA220435333 rs951399585	979	A>V		No	ClinGen Ensembl
CA5943158 rs142960948	980	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5943159 rs183448235 COSM926615	981	P>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
VAR_061894 RCV000970225 CA5943162 rs36006049	983	A>T		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5943163 rs143930117	984	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA380048602 rs1443716650	984	S>T		No	ClinGen TOPMed
CA380048631 rs1264178490	987	S>T		No	ClinGen gnomAD
rs373863933 CA5943166	990	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA5943165 rs373863933	990	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA5943192 rs771341516	992	K>E		No	ClinGen ExAC
rs1209488138 CA380048693	994	R>K		No	ClinGen gnomAD
CA380048699 rs1262807880	995	K>E		No	ClinGen TOPMed gnomAD
CA5943194 rs367696829	997	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1459459084 CA380048725	998	A>G		No	ClinGen TOPMed gnomAD
rs1459459084 CA380048726	998	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA380048733 rs1346401404	999	K>N		No	ClinGen TOPMed
rs767159751 CA5943195	1000	Q>*		No	ClinGen ExAC gnomAD
CA220436900 rs767159751	1000	Q>K		No	ClinGen ExAC gnomAD
rs1380023734 CA380048741	1001	E>K		No	ClinGen gnomAD
CA380048751 rs1438243773	1002	P>T		No	ClinGen TOPMed gnomAD
rs1426829743 CA380048774	1005	S>N		No	ClinGen gnomAD
rs1200457549 CA380048790	1007	K>T		No	ClinGen TOPMed gnomAD
rs371826067 CA5943197	1008	L>*		No	ClinGen ESP TOPMed gnomAD
rs772698051	1009	K>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA5943200 rs763857258	1010	N>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1012	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380048825 rs1423403810	1012	E>Q		No	ClinGen TOPMed
CA380048832 rs1331970068	1013	T>A		No	ClinGen gnomAD
rs552866247 CA5943202	1013	T>R		No	ClinGen 1000Genomes ExAC gnomAD
CA380048840 rs1444302709	1014	K>R		No	ClinGen gnomAD
CA380048852 rs1190816709	1016	K>E		No	ClinGen TOPMed
CA5943204 rs200149938	1016	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA380048872 rs1218904311	1018	D>E		No	ClinGen gnomAD
CA220436928 rs118028707	1018	D>G		No	ClinGen 1000Genomes TOPMed gnomAD
TCGA novel	1018	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773784521	1018	D>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA5943205 rs750380780	1019	M>T		No	ClinGen ExAC gnomAD
TCGA novel	1020	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380048890 rs964363604	1021	L>M		No	ClinGen TOPMed gnomAD
CA380048891 rs1456879010	1021	L>Q		No	ClinGen gnomAD
rs964363604 CA220436949	1021	L>V		No	ClinGen TOPMed gnomAD
CA380048895 rs1201450363	1022	K>*		No	ClinGen gnomAD
CA5943207 rs755007330	1022	K>R		No	ClinGen ExAC gnomAD
rs1171658258 CA380048904	1023	R>L		No	ClinGen TOPMed gnomAD
rs1171658258 COSM926617 CA380048902	1023	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA5943208 rs139546360	1023	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD

No associated diseases with Q9H0A0

4 regional properties for Q9H0A0

Type	Name	Position	InterPro Accession
domain	GNAT domain	528 - 753	IPR000182
domain	Helicase domain	282 - 488	IPR007807
domain	tRNA(Met) cytidine acetyltransferase TmcA, N-terminal	9 - 201	IPR013562
domain	Possible tRNA binding domain	763 - 975	IPR027992

Functions

		Description
EC Number
Subcellular Localization	Nucleus, nucleolus Midbody	Nucleolar in interphase and redistributes to the perichromosomal layer and to the midbody during telophase
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
chromosome, telomeric region	The end of a linear chromosome, required for the integrity and maintenance of the end. A chromosome telomere usually includes a region of telomerase-encoded repeats the length of which rarely exceeds 20 bp each and that permits the formation of a telomeric loop (T-loop). The telomeric repeat region is usually preceded by a sub-telomeric region that is gene-poor but rich in repetitive elements. Some telomeres only consist of the latter part (for eg. D. melanogaster telomeres).
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
midbody	A thin cytoplasmic bridge formed between daughter cells at the end of cytokinesis. The midbody forms where the contractile ring constricts, and may persist for some time before finally breaking to complete cytokinesis.
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
telomerase holoenzyme complex	Telomerase is a ribonucleoprotein enzyme complex, with a minimal catalytic core composed of a catalytic reverse transcriptase subunit and an RNA subunit that provides the template for telomeric DNA addition. In vivo, the holoenzyme complex often contains additional subunits.

7 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
DNA polymerase binding	Binding to a DNA polymerase.
mRNA N-acetyltransferase activity	Catalysis of the reaction: a cytidine in mRNA + acetyl-CoA + ATP + H2O = ADP + an N(4)-acetylcytidine in mRNA + CoA + H(+) + phosphate.
N-acetyltransferase activity	Catalysis of the transfer of an acetyl group to a nitrogen atom on the acceptor molecule.
RNA binding	Binding to an RNA molecule or a portion thereof.
rRNA cytidine N-acetyltransferase activity	Catalysis of the reaction: acetyl-CoA + cytidine = CoA + N4-acetylcytidine. The cytidine is within the polynucleotide chain of an rRNA.
tRNA binding	Binding to a transfer RNA.

7 GO annotations of biological process

Name	Definition
negative regulation of telomere maintenance via telomerase	Any process that stops, prevents, or reduces the frequency, rate or extent of the addition of telomeric repeats by telomerase.
positive regulation of translation	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA.
protein acetylation	The addition of an acetyl group to a protein amino acid. An acetyl group is CH3CO-, derived from acetic
regulation of centrosome duplication	Any process that modulates the frequency, rate or extent of centrosome duplication. Centrosome duplication is the replication of a centrosome, a structure comprised of a pair of centrioles and peri-centriolar material from which a microtubule spindle apparatus is organized.
rRNA acetylation involved in maturation of SSU-rRNA	Any rRNA acetylation that is involved in maturation of SSU-rRNA.
rRNA modification	The covalent alteration of one or more nucleotides within an rRNA molecule to produce an rRNA molecule with a sequence that differs from that coded genetically.
tRNA acetylation	The modification of tRNA structure by addition of an acetyl group to tRNA. An acetyl group is CH3CO-, derived from acetic

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P53914	KRE33	RNA cytidine acetyltransferase	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q8K224	Nat10	RNA cytidine acetyltransferase	Mus musculus (Mouse)	PR
O01757	nath-10	RNA cytidine acetyltransferase	Caenorhabditis elegans	PR
Q9XIK4	At1g10490	RNA cytidine acetyltransferase 1	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9M2Q4	At3g57940	RNA cytidine acetyltransferase 2	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MHRKKVDNRI	RILIENGVAE	RQRSLFVVVG	DRGKDQVVIL	HHMLSKATVK	ARPSVLWCYK
70	80	90	100	110	120
KELGFSSHRK	KRMRQLQKKI	KNGTLNIKQD	DPFELFIAAT	NIRYCYYNET	HKILGNTFGM
130	140	150	160	170	180
CVLQDFEALT	PNLLARTVET	VEGGGLVVIL	LRTMNSLKQL	YTVTMDVHSR	YRTEAHQDVV
190	200	210	220	230	240
GRFNERFILS	LASCKKCLVI	DDQLNILPIS	SHVATMEALP	PQTPDESLGP	SDLELRELKE
250	260	270	280	290	300
SLQDTQPVGV	LVDCCKTLDQ	AKAVLKFIEG	ISEKTLRSTV	ALTAARGRGK	SAALGLAIAG
310	320	330	340	350	360
AVAFGYSNIF	VTSPSPDNLH	TLFEFVFKGF	DALQYQEHLD	YEIIQSLNPE	FNKAVIRVNV
370	380	390	400	410	420
FREHRQTIQY	IHPADAVKLG	QAELVVIDEA	AAIPLPLVKS	LLGPYLVFMA	STINGYEGTG
430	440	450	460	470	480
RSLSLKLIQQ	LRQQSAQSQV	STTAENKTTT	TARLASARTL	YEVSLQESIR	YAPGDAVEKW
490	500	510	520	530	540
LNDLLCLDCL	NITRIVSGCP	LPEACELYYV	NRDTLFCYHK	ASEVFLQRLM	ALYVASHYKN
550	560	570	580	590	600
SPNDLQMLSD	APAHHLFCLL	PPVPPTQNAL	PEVLAVIQVC	LEGEISRQSI	LNSLSRGKKA
610	620	630	640	650	660
SGDLIPWTVS	EQFQDPDFGG	LSGGRVVRIA	VHPDYQGMGY	GSRALQLLQM	YYEGRFPCLE
670	680	690	700	710	720
EKVLETPQEI	HTVSSEAVSL	LEEVITPRKD	LPPLLLKLNE	RPAERLDYLG	VSYGLTPRLL
730	740	750	760	770	780
KFWKRAGFVP	VYLRQTPNDL	TGEHSCIMLK	TLTDEDEADQ	GGWLAAFWKD	FRRRFLALLS
790	800	810	820	830	840
YQFSTFSPSL	ALNIIQNRNM	GKPAQPALSR	EELEALFLPY	DLKRLEMYSR	NMVDYHLIMD
850	860	870	880	890	900
MIPAISRIYF	LNQLGDLALS	AAQSALLLGI	GLQHKSVDQL	EKEIELPSGQ	LMGLFNRIIR
910	920	930	940	950	960
KVVKLFNEVQ	EKAIEEQMVA	AKDVVMEPTM	KTLSDDLDEA	AKEFQEKHKK	EVGKLKSMDL
970	980	990	1000	1010	1020
SEYIIRGDDE	EWNEVLNKAG	PNASIISLKS	DKKRKLEAKQ	EPKQSKKLKN	RETKNKKDMK

LKRKK