AiPD: Autoinhibited Protein Database

O75170

Gene name	PPP6R2 (KIAA0685, PP6R2, SAPS2)
Protein name	Serine/threonine-protein phosphatase 6 regulatory subunit 2
Names	SAPS domain family member 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9701
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

737-820 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

737-820 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for O75170

Entry ID	Method	Resolution	Chain	Position	Source
AF-O75170-F1	Predicted				AlphaFoldDB

811 variants for O75170

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000149111 rs193920858 CA174379	784	R>W	Malignant tumor of prostate [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA412143964 rs146965980	2	F>L		No	ClinGen TOPMed
CA412143993 rs1389576580	4	K>E		No	ClinGen TOPMed
rs750603939 CA10314524	7	L>F		No	ClinGen ExAC TOPMed gnomAD
CA10314525 rs770276886	9	T>A		No	ClinGen ExAC gnomAD
CA10314526 rs773596783	10	T>A		No	ClinGen ExAC TOPMed gnomAD
rs140304979 CA10314527	10	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs147726109 CA325512502	12	H>R		No	ClinGen ESP TOPMed gnomAD
rs1212012223 CA412144258	17	L>V		No	ClinGen gnomAD
CA10314531 rs767481709	18	D>V		No	ClinGen ExAC gnomAD
rs1410539143 CA412144317	20	E>K		No	ClinGen TOPMed
rs142606064 CA10314532	23	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA412144424 rs1421383238	24	L>V		No	ClinGen TOPMed
CA412144475 rs1409281026	26	E>D		No	ClinGen TOPMed
CA10314536 rs758170703	31	D>E		No	ClinGen ExAC gnomAD
rs779861300 CA10314537	33	I>V		No	ClinGen ExAC TOPMed gnomAD
rs746657894 CA10314538	35	Q>E		No	ClinGen ExAC gnomAD
CA412144586 rs1603083872	37	C>G		No	ClinGen Ensembl
CA412144707 rs1266313274	45	L>P		No	ClinGen TOPMed
CA412144745 rs1318830025	47	F>L		No	ClinGen gnomAD
rs368180971 CA10314539	48	L>M		No	ClinGen ESP ExAC gnomAD
CA10314540 rs780718891	49	C>R		No	ClinGen ExAC gnomAD
CA10314541 rs747626451	53	C>R		No	ClinGen ExAC gnomAD
CA10314542 rs570913455	53	C>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773718006 CA412144845	54	M>L		No	ClinGen ExAC TOPMed gnomAD
rs773718006 CA10314543	54	M>V		No	ClinGen ExAC TOPMed gnomAD
CA10314545 rs771419843	58	V>M		No	ClinGen ExAC gnomAD
CA412144961 rs1278454184	61	I>L		No	ClinGen gnomAD
CA10314546 rs774916593	62	T>A		No	ClinGen ExAC gnomAD
rs1185235290 CA412145001	63	Q>E		No	ClinGen gnomAD
rs767713971 CA10314548	64	D>N		No	ClinGen ExAC gnomAD
CA412145041 rs1218594680	64	D>V		No	ClinGen TOPMed
COSM1417093 rs775609741 CA10314549	65	P>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs937499558 CA325512572	67	L>P		No	ClinGen gnomAD
rs937499558 CA412145109	67	L>Q		No	ClinGen gnomAD
rs1569386664	67	L>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs764132482 CA10314551	68	D>H		No	ClinGen ExAC gnomAD
CA412145142 rs1376864684	69	M>I		No	ClinGen gnomAD
rs758394176 CA10314553	69	M>T		No	ClinGen ExAC gnomAD
CA10314552 rs750327159	69	M>V		No	ClinGen ExAC gnomAD
CA412145209 rs1435004425	72	K>E		No	ClinGen gnomAD
CA10314555 rs751293740	72	K>N		No	ClinGen ExAC TOPMed gnomAD
CA10314556 rs754771155	74	R>C		No	ClinGen ExAC gnomAD
rs892651551 CA325512585	74	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA412148784 rs1195457123	80	T>A		No	ClinGen gnomAD
TCGA novel	83	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	85	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412148974 rs1427836149	85	L>V		No	ClinGen gnomAD
CA412149013 rs1168506357	86	T>I		No	ClinGen gnomAD
CA10314575 rs759324175	87	C>G		No	ClinGen ExAC gnomAD
rs752363053 CA10314577	88	D>E		No	ClinGen ExAC TOPMed gnomAD
CA10314579 rs371735944	90	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA412149274 rs1603266981	94	D>A		No	ClinGen Ensembl
CA10314582 rs779515905	94	D>N		No	ClinGen ExAC TOPMed gnomAD
rs143049560 CA10314583	95	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10314584 rs772455624	95	R>H		No	ClinGen ExAC TOPMed gnomAD
CA412149292 rs772455624	95	R>P		No	ClinGen ExAC TOPMed gnomAD
CA10314585 rs780346897	96	L>V		No	ClinGen ExAC TOPMed gnomAD
CA10314587 rs768700418	97	G>R		No	ClinGen ExAC TOPMed gnomAD
CA10314588 rs768700418	97	G>S		No	ClinGen ExAC TOPMed gnomAD
CA412149315 rs1215395413	97	G>V		No	ClinGen gnomAD
CA10314590 rs769883291 COSM726724	100	E>K	lung Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs990587307 CA325517022	104	S>N		No	ClinGen Ensembl
CA10314591 rs148219827	105	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1415885944 CA412149557	108	D>G		No	ClinGen TOPMed gnomAD
rs752377143 CA10314594	108	D>N		No	ClinGen ExAC TOPMed gnomAD
rs760525478 CA10314595	109	F>Y		No	ClinGen ExAC gnomAD
CA412149659 rs1603267252	111	D>A		No	ClinGen Ensembl
rs1425425363 CA412149640	111	D>N		No	ClinGen TOPMed
CA412149678 rs1452320661	112	H>R		No	ClinGen gnomAD
CA10314598 rs550603081 COSM1714540	114	P>L	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
CA412149777 rs1400010144	115	P>H		No	ClinGen gnomAD
CA325517066 rs999950792	116	L>F		No	ClinGen TOPMed
TCGA novel	121	A>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10314602 rs141219176	121	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs141219176 CA10314601	121	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs769818706 CA325517076	127	T>I		No	ClinGen gnomAD
CA412150099 rs769818706	127	T>N		No	ClinGen gnomAD
CA10314603 rs146238959	128	I>T		No	ClinGen ESP ExAC
CA412150108 rs1157688641	128	I>V		No	ClinGen gnomAD
CA412150291 rs1213593672	135	K>R		No	ClinGen gnomAD
rs769834075 CA10314607	137	E>D		No	ClinGen ExAC TOPMed gnomAD
rs748415912 CA10314606 COSM3424270	137	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs146030969 CA10314633	141	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146030969 CA412152281	141	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1569452574 CA412152315	143	L>S		No	ClinGen Ensembl
rs1415614282 CA412152323	144	K>R		No	ClinGen gnomAD
rs1050404070 CA325520278	147	D>E		No	ClinGen TOPMed gnomAD
CA10314636 rs762318417	147	D>N		No	ClinGen ExAC gnomAD
CA10314637 rs201267178	148	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1299710249 CA412152363	148	K>R		No	ClinGen gnomAD
CA412152372 rs1377339917	149	F>I		No	ClinGen gnomAD
rs373176497 CA325520282	150	I>V		No	ClinGen ESP TOPMed gnomAD
rs1484430124 CA412152403	151	S>G		No	ClinGen TOPMed
rs1256852117 CA412152405	151	S>N		No	ClinGen TOPMed
CA10314638 rs74740987	152	L>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	158	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756503205 CA10314642	158	G>S	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	159	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412152563 rs1192308689	161	A>V		No	ClinGen gnomAD
rs369367735 CA10314645	163	M>T		No	ClinGen ESP ExAC gnomAD
TCGA novel	165	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs145732437 CA10314648	168	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA10314649 rs781275207	168	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA325520301 rs796989202	171	S>R		No	ClinGen Ensembl
CA412152711 rs1439807016	173	V>M		No	ClinGen gnomAD
CA10314650 rs148527639	175	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs147712896 CA10314652	177	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs770341965 CA10314654	179	R>Q		No	ClinGen ExAC gnomAD
rs199838562 CA10314653	179	R>W		No	ClinGen ExAC gnomAD
CA10314656 rs759051410	182	V>I		No	ClinGen ExAC TOPMed gnomAD
rs544160556	184	H>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA325520315 rs1053668533	184	H>N		No	ClinGen gnomAD
CA412152879 rs1603303377	184	H>P		No	ClinGen Ensembl
CA412152881 rs544160556	184	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10314697 rs771569487	187	N>D		No	ClinGen ExAC TOPMed gnomAD
CA10314698 rs775042064	187	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs769145273 CA10314700	191	V>A		No	ClinGen ExAC gnomAD
CA10314701 rs777031745	194	R>T		No	ClinGen ExAC gnomAD
CA412153092 rs1442625164	195	L>V		No	ClinGen gnomAD
CA10314703 rs765743536	196	V>L		No	ClinGen ExAC gnomAD
rs763331817 CA10314705	197	E>G		No	ClinGen ExAC gnomAD
rs1019734535 CA325521044	198	L>V		No	ClinGen Ensembl
rs1603307872 CA412153125	199	I>V		No	ClinGen Ensembl
CA10314706 rs766551819	200	H>P		No	ClinGen ExAC gnomAD
rs766551819 CA412153140	200	H>R		No	ClinGen ExAC gnomAD
rs1470863573 CA412153138	200	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA412153147 rs1234041257	201	P>A		No	ClinGen TOPMed
CA412153152 rs1221461160	201	P>L		No	ClinGen TOPMed
rs1477485256 CA412153185	204	D>E		No	ClinGen gnomAD
rs771909622 CA10314708	204	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1220996546 CA412143434	209	S>*		No	ClinGen TOPMed
CA10314726 rs774459331	210	N>S		No	ClinGen ExAC
rs1603330815 CA412143508	214	T>I		No	ClinGen Ensembl
CA325507217 rs920219022	220	R>S		No	ClinGen TOPMed
rs1466414684 CA412143659	224	D>E		No	ClinGen TOPMed gnomAD
CA412143651 rs1215446319	224	D>G		No	ClinGen TOPMed
rs767534916 CA10314729	228	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA412143784 CA10314732 rs765176333	231	E>D		No	ClinGen ExAC TOPMed gnomAD
rs750155633 CA10314733	232	A>T		No	ClinGen ExAC gnomAD
CA10314734 rs758224136	232	A>V		No	ClinGen ExAC gnomAD
rs1435150628 CA412143824	234	E>G		No	ClinGen TOPMed
rs1569461129 CA412143817	234	E>K		No	ClinGen Ensembl
rs780631288 CA10314738	236	D>N		No	ClinGen ExAC gnomAD
rs770365398 CA10314740	237	P>L		No	ClinGen ExAC gnomAD
CA10314742 rs146893610	239	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs146893610 CA325507238	239	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs151324259 CA10314744	240	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA10314745 rs151324259	240	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA10314746 rs772181727	241	A>V		No	ClinGen ExAC gnomAD
CA412145002 rs1308764537	243	E>K		No	ClinGen TOPMed gnomAD
rs140651411 CA412145088	244	S>L		No	ClinGen ESP ExAC TOPMed
CA10314749 rs140651411	244	S>W		No	ClinGen ESP ExAC TOPMed
rs1249161924 CA412145401	246	D>N		No	ClinGen TOPMed
rs376193660 CA325507373	247	C>S		No	ClinGen TOPMed gnomAD
CA10314767 rs775809370	248	V>A		No	ClinGen ExAC gnomAD
CA412145646 rs1363788702	255	M>T		No	ClinGen gnomAD
rs1430375376 CA412145695	257	D>H		No	ClinGen gnomAD
CA10314769 rs138408927	260	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM3390309 rs150082460 CA10314768	260	R>W	pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA10314770 rs773106672	261	T>K		No	ClinGen ExAC TOPMed gnomAD
CA325507381 rs773106672	261	T>M		No	ClinGen ExAC TOPMed gnomAD
rs149262092 CA10314771	262	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA325507385 rs137973527	266	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs137973527 CA10314773 COSM1035439	266	V>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1316306400 CA412146066	272	L>F		No	ClinGen gnomAD
rs767038150 CA412146106 COSM1740749	274	T>I	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA10314775 rs767038150	274	T>N		No	ClinGen ExAC gnomAD
rs1287619163 CA412146148	277	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA10314777 rs142570195	280	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs752421254 CA10314776	280	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1484354095 CA412146227	282	G>R		No	ClinGen gnomAD
rs1187133610 CA412147308	283	T>A		No	ClinGen gnomAD
rs545360904 CA10314797	285	G>C		No	ClinGen ExAC TOPMed gnomAD
CA412147352 rs545360904	285	G>S		No	ClinGen ExAC TOPMed gnomAD
CA10314799 rs750984499	288	D>E		No	ClinGen ExAC gnomAD
CA10314798 rs765609772	288	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1333104873 CA412147582	294	L>Q		No	ClinGen gnomAD
TCGA novel	295	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10314802 rs751770526	296	R>M		No	ClinGen ExAC TOPMed gnomAD
rs1369762832 CA412147649	296	R>S		No	ClinGen gnomAD
rs780466912 CA10314801	296	R>W		No	ClinGen ExAC gnomAD
COSM1682371 rs781398419 CA10314804	299	A>T	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs748188651 CA10314805	302	S>R		No	ClinGen ExAC gnomAD
rs769939800 CA10314806	303	S>G		No	ClinGen ExAC gnomAD
rs761344015 CA10314808	304	V>I		No	ClinGen ExAC TOPMed gnomAD
rs565668563 CA10314810	306	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs771750073 CA10314809	306	H>R		No	ClinGen ExAC gnomAD
CA412147944 rs1219943764	306	H>Y		No	ClinGen gnomAD
COSM3723177 rs1191427993 CA412147982 COSM3723178	307	G>S	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
CA412148010 rs1422550955	308	I>V		No	ClinGen gnomAD
rs768380651 CA10314812	309	E>K		No	ClinGen ExAC gnomAD
rs776441797 CA10314813	310	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1432143225 CA412148651	311	R>L		No	ClinGen TOPMed gnomAD
rs1432143225 CA412148643	311	R>Q		No	ClinGen TOPMed gnomAD
rs771708221 CA325508686	311	R>W		No	ClinGen TOPMed gnomAD
rs761202619 CA10314814	314	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1324592641 CA412148881	320	L>F		No	ClinGen gnomAD
CA325508694 rs748024140	321	N>I		No	ClinGen Ensembl
CA412148922 rs1338761582	322	P>A		No	ClinGen gnomAD
CA412148966 rs1279257438	323	P>L		No	ClinGen gnomAD
rs1334568113 CA412149018	324	K>T		No	ClinGen gnomAD
TCGA novel	325	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10314844 rs377463315	327	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs148271691 CA10314848	332	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs371239829 CA10314851	336	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA10314850 rs769425338	336	E>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	337	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412149903 rs1341397478	338	P>R		No	ClinGen gnomAD
rs1446741382 CA412149948	339	L>V		No	ClinGen gnomAD
CA412150004 rs1374037316	341	N>S		No	ClinGen gnomAD
CA10314855 rs770478082	343	R>C		No	ClinGen ExAC gnomAD
CA10314854 rs770478082	343	R>S		No	ClinGen ExAC gnomAD
rs141375294 CA412150216	347	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA10314857 rs141375294	347	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA10314858 rs775856214	348	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs760976671 CA10314859	348	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA325509013 rs561186405	350	M>V		No	ClinGen Ensembl
rs1603351458 CA412150413	355	H>P		No	ClinGen Ensembl
rs764326072 CA10314860	356	T>A		No	ClinGen ExAC gnomAD
rs754054138 CA412150495	357	N>D		No	ClinGen ExAC TOPMed gnomAD
rs754054138 CA10314861	357	N>H		No	ClinGen ExAC TOPMed gnomAD
rs1603351485 CA412150545	358	T>P		No	ClinGen Ensembl
CA10314863 rs765481153	359	P>Q		No	ClinGen ExAC
TCGA novel	364	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1029896340 CA325509021	365	L>F		No	ClinGen TOPMed gnomAD
rs765476879 COSM3723179 CA10314865 COSM3723180	367	R>Q	upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA10314864 rs757377507	367	R>W		No	ClinGen ExAC TOPMed gnomAD
CA10314866 rs751532543	368	L>P		No	ClinGen ExAC gnomAD
rs1446188417 CA412150849	369	N>S		No	ClinGen TOPMed
rs754909182 CA10314867	370	T>M		No	ClinGen ExAC gnomAD
rs747938854 CA10314869	371	M>L		No	ClinGen ExAC
rs772749349 CA325509023	374	L>V		No	ClinGen Ensembl
TCGA novel	381	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412154905 rs1294826972	382	T>A		No	ClinGen TOPMed gnomAD
CA412154896 rs1294826972	382	T>P		No	ClinGen TOPMed gnomAD
rs762278010 CA10314900	382	T>S		No	ClinGen ExAC gnomAD
rs1232513333 CA412154941	384	N>D		No	ClinGen gnomAD
rs1399048044 CA412155008	386	F>L		No	ClinGen gnomAD
rs1292627144 CA412155235	395	I>M		No	ClinGen gnomAD
CA325511861 rs752675924	395	I>R		No	ClinGen ExAC TOPMed gnomAD
rs752675924 CA10314905	395	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1319900245 CA412155218	395	I>V		No	ClinGen TOPMed gnomAD
rs1214736408 CA412155250	396	A>G		No	ClinGen gnomAD
CA412155242 rs1352989390	396	A>S		No	ClinGen gnomAD
rs1214736408 CA412155253	396	A>V		No	ClinGen gnomAD
CA10314907 rs150819801	397	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA10314911 rs139266533	402	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs139266533 CA10314910	402	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA10314912 rs566684286	404	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA325511885 rs566684286	404	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA325511892 rs1029073183	404	R>H		No	ClinGen TOPMed gnomAD
TCGA novel	404	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412155427 rs1029073183	404	R>P		No	ClinGen TOPMed gnomAD
CA412155442 rs1250370763	405	E>K		No	ClinGen TOPMed
CA10314913 rs55712763	406	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370753237 CA325511903	407	R>T		No	ClinGen Ensembl
CA412155526 rs1569482345	408	T>A		No	ClinGen Ensembl
CA10314914 rs376747725	410	A>D		No	ClinGen ESP ExAC gnomAD
rs1156295469 CA412155560	410	A>T		No	ClinGen gnomAD
rs147275453 CA10314917	411	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs770334648 CA10314918 COSM3694140	412	G>R	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
TCGA novel	412	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs140861368 CA10314920	413	S>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10314919 rs140861368 COSM4156454 COSM4156455	413	S>F	thyroid [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1340048977 CA412155669	414	E>D		No	ClinGen TOPMed
rs376757157 CA412155650	414	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs376757157 CA10314922	414	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs759692126 CA10314923	416	R>G		No	ClinGen ExAC gnomAD
rs537450348 CA10314926	419	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1299716177 CA412155802	419	P>S		No	ClinGen TOPMed
rs556410526 CA10314929 COSM117533	420	P>L	ovary [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs765080639 CA10314928	420	P>S		No	ClinGen ExAC gnomAD
rs765080639 CA10314927	420	P>T		No	ClinGen ExAC gnomAD
CA412155878 rs1407798778	421	H>Q		No	ClinGen gnomAD
rs368219691 CA10314931	421	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs781759770 CA10314933	424	G>R		No	ClinGen ExAC TOPMed gnomAD
CA10314934 rs748706892	424	G>V		No	ClinGen ExAC gnomAD
rs756544741 CA10314935	426	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA325511957 rs917539200	426	R>W		No	ClinGen TOPMed gnomAD
rs112217367 CA325511961	427	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10314937 rs148637820	429	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1291263576 CA412156136	431	P>S		No	ClinGen gnomAD
rs771018288 CA10314938	433	P>L		No	ClinGen ExAC TOPMed gnomAD
rs35376907 CA10314940	434	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10314941 rs35376907	434	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1314155143 CA412156271	435	A>G		No	ClinGen TOPMed gnomAD
rs200841264 CA10314943	435	A>T		No	ClinGen ExAC TOPMed gnomAD
rs376751493 CA10314944	436	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA412156293 rs1257794827	436	S>R		No	ClinGen gnomAD
rs772812142 CA10314945	438	P>L		No	ClinGen ExAC gnomAD
CA10314947 rs762841383	439	D>E		No	ClinGen ExAC gnomAD
CA412156350 rs1603387853	439	D>H		No	ClinGen Ensembl
rs751278009 CA10314948	440	N>D		No	ClinGen ExAC gnomAD
rs181498134 CA325511988	440	N>T		No	ClinGen 1000Genomes
CA10314950 rs754510400	441	T>I		No	ClinGen ExAC gnomAD
CA10314949 rs754510400	441	T>K		No	ClinGen ExAC gnomAD
rs151135571 CA325511992	442	M>T		No	ClinGen ESP
rs753243094 CA10314951	442	M>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	449	K>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1265012813 CA412157122	449	K>T		No	ClinGen TOPMed
rs1287168041 CA412157228	451	C>F		No	ClinGen gnomAD
CA412157265 rs1415265385	454	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA10314969 rs767292797	464	D>N		No	ClinGen ExAC TOPMed gnomAD
rs145305363 CA10314971	466	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1180009538 CA412157523	467	Q>E		No	ClinGen gnomAD
rs1446671460 CA412159864	468	A>T		No	ClinGen gnomAD
COSM3694141 CA10314994 rs758787649	469	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1240755425 CA412159911	470	G>V		No	ClinGen gnomAD
rs751823681 CA10314996	474	R>C		No	ClinGen ExAC TOPMed gnomAD
rs114588174 CA10314997	474	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs114588174 CA10314998	474	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA412160016 rs1197886659	478	G>S		No	ClinGen gnomAD
CA412160108 rs1036431054	482	R>P		No	ClinGen TOPMed gnomAD
CA325515097 rs1036431054	482	R>Q		No	ClinGen TOPMed gnomAD
rs1439576976 CA412160098	482	R>W		No	ClinGen TOPMed gnomAD
CA10315002 rs140951188	484	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA10315003 rs772031037	484	A>V		No	ClinGen ExAC gnomAD
rs897499632 CA325515105	485	N>S		No	ClinGen TOPMed gnomAD
rs150134312 CA10315004	486	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150134312 CA10315005	486	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10315006 rs138607762	486	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10315008 rs761257868	490	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1352653692 CA412160327	491	L>P		No	ClinGen TOPMed
CA412160342 rs1306676678	492	E>G		No	ClinGen TOPMed
CA10315011 rs144614869	493	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA10315010 rs540556900	493	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs751770595 CA10315013	494	G>A		No	ClinGen ExAC TOPMed gnomAD
rs751770595 CA10315014	494	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1196500006 CA412160419	495	P>L		No	ClinGen gnomAD
rs767638911 CA10315015	495	P>T		No	ClinGen ExAC TOPMed gnomAD
CA412160427 rs1266735611	496	V>M		No	ClinGen gnomAD
rs148076975 CA10315018	498	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA10315019 rs778962601	499	H>R		No	ClinGen ExAC TOPMed gnomAD
CA412160590 rs1375324098	502	E>K		No	ClinGen gnomAD
rs990780626 CA325515135	503	V>I		No	ClinGen TOPMed
CA10315021 rs370650684	505	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1402721822 CA412160676	506	G>R		No	ClinGen gnomAD
CA412160931 rs1376164539	508	P>S		No	ClinGen gnomAD
CA412160947 rs1222293629	509	A>S		No	ClinGen TOPMed gnomAD
rs1222293629 CA412160942	509	A>T		No	ClinGen TOPMed gnomAD
rs374736578 CA10315065	509	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA412160965 rs748748936	510	D>A		No	ClinGen ExAC gnomAD
CA10315067 rs748748936	510	D>G		No	ClinGen ExAC gnomAD
rs1204791894 CA412160990	512	R>C		No	ClinGen gnomAD
CA10315069 rs779469109	512	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1479996137 CA412161011	513	G>D		No	ClinGen gnomAD
CA412161007 rs1479996137	513	G>V		No	ClinGen gnomAD
rs746419174 CA10315070	514	R>C		No	ClinGen ExAC TOPMed gnomAD
CA10315071 rs772647131	514	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1175464133 CA412161020	515	W>*		No	ClinGen gnomAD
CA412161033 rs1345525657	516	E>K		No	ClinGen TOPMed
rs1569490366 CA412161071	518	F>S		No	ClinGen Ensembl
CA412161080 rs761147889 CA10315073	519	V>L		No	ClinGen ExAC TOPMed gnomAD
CA412161079 rs761147889	519	V>M		No	ClinGen ExAC TOPMed gnomAD
rs768946388 CA412161157	522	T>K		No	ClinGen ExAC TOPMed gnomAD
CA10315074 rs768946388	522	T>M		No	ClinGen ExAC TOPMed gnomAD
rs377314097 CA10315076	524	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1374406620 CA412161233	525	E>D		No	ClinGen TOPMed gnomAD
CA412161208 rs1339284096	525	E>K		No	ClinGen TOPMed
rs751504646 CA10315078	526	T>M		No	ClinGen ExAC gnomAD
CA325515659 rs998425904	528	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA412161311 rs998425904	528	R>G		No	ClinGen TOPMed gnomAD
rs547342353 CA325515664	528	R>H		No	ClinGen TOPMed gnomAD
rs547342353 CA412161313	528	R>L		No	ClinGen TOPMed gnomAD
rs1201904151 CA412161374	531	T>P		No	ClinGen gnomAD
CA412161416 rs1373877188	532	V>A		No	ClinGen TOPMed
rs144758234 CA10315081	532	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA325515896 rs867065289	536	S>R		No	ClinGen Ensembl
rs756835860 CA412163214	537	T>I		No	ClinGen ExAC gnomAD
CA10315103 rs756835860	537	T>S		No	ClinGen ExAC gnomAD
CA10315104 rs144689093	538	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	539	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1181881479 CA412163282	540	L>P		No	ClinGen gnomAD
rs1038251085 CA325515900	541	H>R		No	ClinGen TOPMed gnomAD
rs867356218 CA325515905	543	S>*		No	ClinGen TOPMed gnomAD
CA412163398 rs1393472965	544	S>N		No	ClinGen gnomAD
CA412163445 rs1158164347	546	D>G		No	ClinGen gnomAD
TCGA novel	547	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749849225 CA10315105	547	E>K		No	ClinGen ExAC TOPMed gnomAD
rs780391925 CA325515914	548	D>E		No	ClinGen ExAC gnomAD
CA10315106 rs757972012	548	D>N		No	ClinGen ExAC gnomAD
CA412163558 rs1451022921	549	I>V		No	ClinGen gnomAD
CA412163613 rs1334128232	551	G>D		No	ClinGen gnomAD
CA412163629 rs1245095176	552	A>T		No	ClinGen gnomAD
CA412163705 rs1358970323	554	P>T		No	ClinGen TOPMed
rs532843831 CA325515920	555	N>K		No	ClinGen 1000Genomes
CA325515923 rs868684868	556	E>*		No	ClinGen gnomAD
rs868684868 CA412163746	556	E>K		No	ClinGen gnomAD
CA325515924 rs1002289872	557	L>R		No	ClinGen TOPMed gnomAD
CA412163778 rs1248303898	558	S>Y		No	ClinGen TOPMed
rs1225316102 CA412163802	560	Q>*		No	ClinGen gnomAD
rs778895941 CA10315140	562	A>P		No	ClinGen ExAC gnomAD
CA412164008 rs745978569	563	F>L		No	ClinGen ExAC gnomAD
rs768531757 CA10315142	563	F>S		No	ClinGen ExAC gnomAD
rs745978569 CA10315141	563	F>V		No	ClinGen ExAC gnomAD
CA412164021 rs1291366799	564	S>P		No	ClinGen gnomAD
CA10315143 rs776595287	565	D>N		No	ClinGen ExAC gnomAD
rs1156773820 CA412164082	567	Q>H		No	ClinGen TOPMed
rs1412416800 CA412164136	571	M>I		No	ClinGen TOPMed
rs1603413602 CA412164168	574	N>H		No	ClinGen Ensembl
rs761478963 CA10315144	574	N>K		No	ClinGen ExAC gnomAD
rs1428442882 CA412164178	574	N>S		No	ClinGen gnomAD
CA10315145 rs769695089	576	V>L		No	ClinGen ExAC TOPMed gnomAD
CA10315146 rs769695089	576	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1476132644 CA412164226	577	D>E		No	ClinGen gnomAD
CA325516136 rs201408478	581	F>L		No	ClinGen 1000Genomes
CA325516140 rs200644950	582	N>S		No	ClinGen Ensembl
CA10315147 rs762610010	583	D>N		No	ClinGen ExAC gnomAD
TCGA novel	584	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412164324 rs1228688725	584	E>K		No	ClinGen gnomAD
CA412164346 rs1221689607	585	E>*		No	ClinGen TOPMed
rs1445875989 CA412164351	585	E>V		No	ClinGen TOPMed
TCGA novel	586	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412164380 rs1304735491	587	A>T		No	ClinGen gnomAD
rs866304306 CA325516146	587	A>V		No	ClinGen gnomAD
rs150868881 CA412164390	588	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA10315149 rs150868881	588	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs768119109 CA10315151	591	D>N		No	ClinGen ExAC gnomAD
CA10315152 rs753291177	592	N>D		No	ClinGen ExAC gnomAD
rs756433381 CA10315153	594	N>S		No	ClinGen ExAC gnomAD
CA412164503 rs756433381	594	N>T		No	ClinGen ExAC gnomAD
rs1211690309 CA412164707	595	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1480107111 CA412164712	596	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1256010549 CA412164710	596	P>S		No	ClinGen gnomAD
rs1253730961 CA412164746	598	D>N		No	ClinGen gnomAD
rs1309537201 CA412164821	600	I>T		No	ClinGen TOPMed
CA412164827 rs959238994	601	A>S		No	ClinGen TOPMed gnomAD
CA325516354 rs959238994	601	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA10315185 rs771867448	601	A>V		No	ClinGen ExAC gnomAD
CA325516363 rs191912498	602	E>Q		No	ClinGen 1000Genomes TOPMed gnomAD
TCGA novel	603	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412164891 rs1220719706	604	N>T		No	ClinGen gnomAD
TCGA novel	605	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1353971294 CA412164912	605	F>V		No	ClinGen gnomAD
rs760121895 CA412164982	607	I>M		No	ClinGen ExAC gnomAD
CA10315186 rs369047427	607	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA325516369 rs917730387	608	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA412165042 rs1347951809	609	A>G		No	ClinGen gnomAD
CA412165028 rs1281757870	609	A>T		No	ClinGen gnomAD
rs762160667 CA412165093	610	D>E		No	ClinGen ExAC TOPMed gnomAD
CA412165098 rs1183216729	611	E>K		No	ClinGen TOPMed
CA10315220 rs750217758	614	P>S		No	ClinGen ExAC gnomAD
rs201999560 CA412165489	616	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs201999560 CA10315222	616	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs201604809 CA10315224	617	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201604809 CA10315223	617	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1365226908 CA412165550	619	F>S		No	ClinGen gnomAD
TCGA novel	620	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1451253437 CA412165605	621	A>T		No	ClinGen gnomAD
rs1312518011 CA412165796	626	R>C		No	ClinGen gnomAD
rs189571888 CA10315225	626	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA412165806 rs1228728733	627	I>V		No	ClinGen gnomAD
rs367961227 CA10315226	629	P>L		No	ClinGen ESP ExAC gnomAD
rs145411803 CA10315229	632	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
VAR_058402 rs11555194 CA10315232	633	D>E		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA412165968 rs763273434	633	D>H		No	ClinGen ExAC gnomAD
rs763273434 CA10315231	633	D>N		No	ClinGen ExAC gnomAD
rs774623330 CA10315233	634	E>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	635	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10315235 rs767787610	636	E>K		No	ClinGen ExAC gnomAD
rs1220222442 CA412166121	637	D>N		No	ClinGen TOPMed
CA412166166 rs1449304896	638	I>N		No	ClinGen TOPMed
rs1158361560 CA412166152	638	I>V		No	ClinGen gnomAD
rs1160617047 CA412166198	639	W>C		No	ClinGen gnomAD
rs752773091 CA10315236	639	W>S		No	ClinGen ExAC gnomAD
CA412166204 rs1405958104	640	E>Q		No	ClinGen gnomAD
rs1451366999 CA412166314	643	D>G		No	ClinGen TOPMed gnomAD
CA10315238 rs765231336	644	T>A		No	ClinGen ExAC gnomAD
rs750448462 CA10315239	645	R>C		No	ClinGen ExAC TOPMed gnomAD
CA10315240 rs758198875	645	R>H		No	ClinGen ExAC TOPMed gnomAD
rs758198875 CA412166345	645	R>L		No	ClinGen ExAC TOPMed gnomAD
CA10315241 rs779654460	647	A>V		No	ClinGen ExAC TOPMed gnomAD
rs371587794 CA10315243	649	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA10315242 rs200855171	649	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA412166424 rs1322721486	650	V>L		No	ClinGen gnomAD
CA10315244 rs780846862	651	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
CA412166462 rs1201870578	651	M>V		No	ClinGen gnomAD
rs1280747529 CA412166510	652	A>V		No	ClinGen gnomAD
CA412166528 rs1443249167	654	P>S		No	ClinGen gnomAD
CA10315271 rs757668762	656	F>L		No	ClinGen ExAC gnomAD
CA412166783 rs1406654764	656	F>S		No	ClinGen gnomAD
rs574343360 CA325516749	658	A>T		No	ClinGen 1000Genomes
CA412166885 rs1293599883	659	P>S		No	ClinGen TOPMed
CA412166915 rs1291532219	660	H>D		No	ClinGen TOPMed gnomAD
CA10315275 rs772628344	660	H>R		No	ClinGen ExAC gnomAD
CA412166916 rs1291532219	660	H>Y		No	ClinGen TOPMed gnomAD
rs775838933 CA10315276	661	A>D		No	ClinGen ExAC gnomAD
rs556946488 CA325516769 CA10315277	663	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA412167011 rs1268741793	663	E>Q		No	ClinGen gnomAD
CA325516777 rs575832683	664	S>C		No	ClinGen 1000Genomes TOPMed gnomAD
CA412167065 rs1439723487	664	S>N		No	ClinGen gnomAD
rs1387746115 CA412167158	666	S>L		No	ClinGen gnomAD
CA10315278 rs370094967	669	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs761974401 CA10315280	670	P>L		No	ClinGen ExAC TOPMed gnomAD
rs766206633 CA10315281	671	E>K		No	ClinGen ExAC gnomAD
COSM1035443 CA10315282 rs774388878	672	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA10315283 rs148234883	672	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA10315284 rs767359380	673	G>A		No	ClinGen ExAC gnomAD
rs752506587 CA10315285	674	G>C		No	ClinGen ExAC gnomAD
rs755701426 CA10315286	679	A>S		No	ClinGen ExAC gnomAD
rs1320134470 CA412167617	683	A>V		No	ClinGen gnomAD
CA10315288 rs753241572	684	H>Q		No	ClinGen ExAC gnomAD
rs1247514334 CA412167639	684	H>Y		No	ClinGen TOPMed gnomAD
rs140309473 CA10315290	686	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs766014531 CA325516805	687	A>P		No	ClinGen ExAC TOPMed gnomAD
rs766014531 CA325516804	687	A>S		No	ClinGen ExAC TOPMed gnomAD
rs766014531 CA10315291	687	A>T		No	ClinGen ExAC TOPMed gnomAD
CA412167756 rs1569494860	688	P>S		No	ClinGen Ensembl
rs780498047 CA10315293	689	G>A		No	ClinGen ExAC TOPMed gnomAD
rs758983418 CA10315292	689	G>R		No	ClinGen ExAC gnomAD
CA412167804 rs780498047	689	G>V		No	ClinGen ExAC TOPMed gnomAD
rs949134937 CA325516812	690	A>T		No	ClinGen TOPMed gnomAD
CA10315294 rs570488224	691	G>A		No	ClinGen ExAC gnomAD
rs570488224 CA10315295	691	G>D		No	ClinGen ExAC gnomAD
rs1421632552 CA412167835	691	G>R		No	ClinGen TOPMed gnomAD
rs1421632552 CA412167832	691	G>S		No	ClinGen TOPMed gnomAD
CA325516819 rs202122066	692	A>T		No	ClinGen gnomAD
CA10315296 rs45528946	694	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs759414964 CA10315300	697	G>E		No	ClinGen ExAC TOPMed gnomAD
CA10315299 rs774142761	697	G>R		No	ClinGen ExAC TOPMed gnomAD
CA412169334 rs759414964	697	G>V		No	ClinGen ExAC TOPMed gnomAD
CA10315302 rs775227980	698	K>N		No	ClinGen ExAC gnomAD
CA10315301 rs201113832	698	K>T		No	ClinGen 1000Genomes ExAC
CA10315303 rs760488173	699	K>R		No	ClinGen ExAC gnomAD
rs1391480960 CA412169470	701	A>P		No	ClinGen TOPMed
rs373612959 CA10315305	701	A>V		No	ClinGen ESP ExAC gnomAD
rs1254462579 CA412169497	702	P>L		No	ClinGen TOPMed gnomAD
CA412169492 rs1330413487	702	P>S		No	ClinGen gnomAD
CA10315309 rs146343309	703	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10315311 rs146343309	703	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10315310 rs146343309	703	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA412169543 rs1183188712	705	E>*		No	ClinGen gnomAD
CA412169564 rs1472164999	706	G>S		No	ClinGen gnomAD
rs1182781953 CA412169634	709	E>K		No	ClinGen TOPMed
rs371839926 CA412169930	711	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs371839926 CA10315333	711	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA10315335 rs749350465	713	W>S		No	ClinGen ExAC
rs757391482 CA10315336	714	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1414371216 CA412170098	715	A>T		No	ClinGen TOPMed
rs1053084137 CA325517100	719	E>D		No	ClinGen TOPMed gnomAD
CA412170270 rs1569496258	720	P>S		No	ClinGen Ensembl
CA10315339 rs768479453	721	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1447916963 CA412170324	722	N>H		No	ClinGen gnomAD
rs148549099 CA10315340	724	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs568739684 CA325517108	727	A>T		No	ClinGen gnomAD
COSM1161895 CA10315342 rs143138513	728	P>A	kidney [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1437724297 CA412170544	729	G>E		No	ClinGen gnomAD
CA412170621 rs1432224784	731	V>A		No	ClinGen gnomAD
VAR_058403 CA10315344 rs13057311	732	R>K		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs766044900 CA10315345	733	D>N		No	ClinGen ExAC gnomAD
CA412170704 rs1287392050	733	D>V		No	ClinGen gnomAD
rs746949491 CA10315347	734	V>M		No	ClinGen ExAC TOPMed gnomAD
CA412170760 rs1463629853	735	G>D		No	ClinGen gnomAD
rs1247316348 CA412170754	735	G>S		No	ClinGen TOPMed gnomAD
rs767944046 CA10315348	737	S>I		No	ClinGen ExAC gnomAD
rs767944046 CA10315349	737	S>T		No	ClinGen ExAC gnomAD
rs140169391 CA10315350	739	W>*		No	ClinGen ESP ExAC gnomAD
TCGA novel	739	W>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10315351 rs764273969	740	A>E		No	ClinGen ExAC TOPMed gnomAD
rs754114297 CA10315352	741	A>T		No	ClinGen ExAC gnomAD
rs757479453 CA10315353	742	G>S		No	ClinGen ExAC TOPMed gnomAD
CA10315354 rs778895652	743	T>I		No	ClinGen ExAC gnomAD
TCGA novel	744	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412171080 rs1455242012	745	A>V		No	ClinGen gnomAD
CA10315356 rs754893364	746	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA10315357 rs550369625	747	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1295291914 CA412171137	748	E>Q		No	ClinGen TOPMed
rs1446786004 CA412171202	750	G>D		No	ClinGen gnomAD
CA10315359 rs769542683	754	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1328150283 CA412171354	755	T>A		No	ClinGen TOPMed
rs3197201 CA10315362	758	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10315363 rs773960154	759	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1460668270 CA412171549	761	C>S		No	ClinGen TOPMed
rs778760300 CA10315384	764	E>K		No	ClinGen ExAC TOPMed gnomAD
rs566169578 CA10315385	766	G>R		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	766	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10315386 rs771551913	768	R>S		No	ClinGen ExAC gnomAD
rs200173779 CA10315387	769	C>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1233957070 CA412171900	769	C>Y		No	ClinGen gnomAD
CA10315389 rs761016476	770	S>R		No	ClinGen ExAC gnomAD
CA10315390 rs199679407	772	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs764515458 CA10315392	773	V>M		No	ClinGen ExAC gnomAD
rs1307216881 CA412172138	776	E>Q		No	ClinGen gnomAD
CA412172210 rs1470845710	778	S>R		No	ClinGen TOPMed
rs45484793 CA10315396	782	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10315395 rs763074311	782	G>R		No	ClinGen ExAC gnomAD
CA10315394 rs763074311	782	G>S		No	ClinGen ExAC gnomAD
rs201572533 CA10315397	784	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	785	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757161749 CA10315399	785	S>T		No	ClinGen ExAC gnomAD
CA412172503 rs1272730443	787	G>S		No	ClinGen gnomAD
CA10315400 rs778627051	788	P>S		No	ClinGen ExAC gnomAD
CA325517647 rs1018353597	792	S>L		No	ClinGen TOPMed
rs1456830293 CA412174078	793	Q>*		No	ClinGen gnomAD
CA10315419 rs750259116	793	Q>P		No	ClinGen ExAC gnomAD
CA412174082 rs750259116	793	Q>R		No	ClinGen ExAC gnomAD
CA10315421 rs779802795	794	A>S		No	ClinGen ExAC TOPMed gnomAD
rs746490224 CA10315422	794	A>V		No	ClinGen ExAC gnomAD
CA10315423 rs754548124	795	S>A		No	ClinGen ExAC TOPMed gnomAD
CA412174128 rs1164505262	795	S>F		No	ClinGen TOPMed
rs781656113 CA10315424	796	Y>S		No	ClinGen ExAC gnomAD
rs1294508719 CA412174185	798	A>V		No	ClinGen TOPMed gnomAD
CA10315427 rs368128232	800	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA10315426 rs368128232	800	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs368128232 CA10315425	800	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA10315428 rs749687321	801	P>A		No	ClinGen ExAC TOPMed gnomAD
rs181944432 CA10315429	801	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA412174264 rs749687321	801	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1205410489 CA412174336	804	P>Q		No	ClinGen gnomAD
CA412174346 rs1255014905	805	C>S		No	ClinGen gnomAD
rs1421908444 CA412174366	805	C>Y		No	ClinGen gnomAD
rs1189347943 CA412174382	806	A>S		No	ClinGen TOPMed gnomAD
rs1292225030 CA412174390	806	A>V		No	ClinGen TOPMed
CA10315431 rs759687338	807	W>R		No	ClinGen ExAC gnomAD
CA10315433 rs139823461	809	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	810	C>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1025658137 CA325517708	810	C>Y		No	ClinGen TOPMed
TCGA novel	813	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412174590 rs1454354782	815	A>T		No	ClinGen gnomAD
CA412174603 rs1302528033	815	A>V		No	ClinGen gnomAD
CA10315434 rs761797830	816	P>L		No	ClinGen ExAC TOPMed gnomAD
CA412174612 rs1389600027	816	P>S		No	ClinGen TOPMed gnomAD
CA10315436 rs750161143	818	L>P		No	ClinGen ExAC gnomAD
CA412174726 rs1333178025	820	S>C		No	ClinGen gnomAD
rs758251940 CA10315437	822	S>C		No	ClinGen ExAC TOPMed gnomAD
CA10315439 rs149682499	824	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs149682499 CA10315438	824	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA412174815 rs1239135334	825	S>F		No	ClinGen TOPMed gnomAD
rs201778565 CA10315440	826	G>R		No	ClinGen 1000Genomes ExAC gnomAD
CA412174825 rs201778565	826	G>W		No	ClinGen 1000Genomes ExAC gnomAD
CA10315441 rs532029204	827	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747689479 CA10315442	829	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA10315444 rs778395945	831	E>D		No	ClinGen ExAC gnomAD
CA10315443 rs200548396	831	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA412174943 rs200548396	831	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs749586712 CA10315445	832	D>G		No	ClinGen ExAC gnomAD
rs749586712 CA412174982	832	D>V		No	ClinGen ExAC gnomAD
rs1569498069 CA412175016	833	G>D		No	ClinGen Ensembl
CA10315449 rs145508475	834	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148863369 CA412175120	837	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA10315450 rs148863369	837	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs760883617 COSM1190496 CA10315451	838	A>T	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA10315452 COSM1224661 rs765052205	838	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA412175171 rs1269099071	839	S>T		No	ClinGen gnomAD
CA10315454 rs79246959	840	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs143540978 CA10315456	841	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10315455 rs566143847	841	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs147624250 CA412175264	843	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs147624250 CA10315458	843	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1341245106 CA412175296	844	V>G		No	ClinGen gnomAD
TCGA novel	844	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10315461 rs554935921	845	S>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10315460 rs554935921	845	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10315462 rs569995471	845	S>R		No	ClinGen 1000Genomes ExAC gnomAD
rs779375952 CA10315464	846	R>T		No	ClinGen ExAC gnomAD
rs371052671 CA412175435	849	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA10315466 rs371052671	849	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs372426551 CA10315467	850	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA412175454 rs1427676892	850	R>W		No	ClinGen TOPMed
rs768836966 CA10315469	851	E>D		No	ClinGen ExAC gnomAD
rs747053061 CA10315468	851	E>K		No	ClinGen ExAC gnomAD
rs776585873 CA10315471	852	A>D		No	ClinGen ExAC gnomAD
rs1477638860 CA412175528	852	A>T		No	ClinGen TOPMed
rs770886968 CA10315473	853	P>R		No	ClinGen ExAC TOPMed gnomAD
CA412175575 rs1457806368	853	P>T		No	ClinGen gnomAD
rs1442425355 CA412175610	854	P>A		No	ClinGen TOPMed gnomAD
CA10315475 rs759377991	854	P>L		No	ClinGen ExAC TOPMed gnomAD
CA10315476 rs759377991	854	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA412175619 rs759377991	854	P>R		No	ClinGen ExAC TOPMed gnomAD
CA412175613 rs1442425355	854	P>S		No	ClinGen TOPMed gnomAD
rs777185590	855	L>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA10315479 rs763604954	856	P>L		No	ClinGen ExAC TOPMed gnomAD
CA412175660 rs1349131852	856	P>S		No	ClinGen gnomAD
rs368676108 COSM1197287 CA10315481	857	T>A	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1569498445 CA412175699	858	V>M		No	ClinGen Ensembl
rs750783608 CA10315483	860	R>K		No	ClinGen ExAC TOPMed gnomAD
CA10315486 rs780408073	860	R>S		No	ClinGen ExAC gnomAD
CA10315484 rs750783608	860	R>T		No	ClinGen ExAC TOPMed gnomAD
CA10315487 rs768763970	862	E>V		No	ClinGen ExAC gnomAD
rs748199580 CA10315489	863	E>A		No	ClinGen ExAC TOPMed gnomAD
CA10315488 rs781291583	863	E>K		No	ClinGen ExAC gnomAD
CA10315490 rs770833944	864	A>P		No	ClinGen ExAC gnomAD
rs770833944 CA412175931	864	A>S		No	ClinGen ExAC gnomAD
CA412175939 rs770833944	864	A>T		No	ClinGen ExAC gnomAD
CA10315491 rs774314617	864	A>V		No	ClinGen ExAC gnomAD
CA10315495 rs367629519	866	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs200904804 CA10315517	869	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1250244803 CA412177881	869	G>V		No	ClinGen gnomAD
CA412177984 rs1159739374	873	S>G		No	ClinGen gnomAD
rs142237510 CA10315520	874	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs200415574 CA10315519	874	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201985147 CA10315521	875	L>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	875	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10315523 rs146207636	877	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10315525 rs767777445	880	C>R		No	ClinGen ExAC TOPMed
CA10315526 rs752922708	881	P>A		No	ClinGen ExAC TOPMed gnomAD
rs527941174 CA412178132	881	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs527941174 CA10315527	881	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA325521330 rs752922708	881	P>T		No	ClinGen ExAC TOPMed gnomAD
rs56269507 CA412178156	882	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs56269507 CA10315529	882	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10315530 rs758287358	882	A>V		No	ClinGen ExAC TOPMed gnomAD
rs746810473 CA10315532	883	P>L		No	ClinGen ExAC gnomAD
rs746810473 CA412178185	883	P>Q		No	ClinGen ExAC gnomAD
rs768405863 CA10315534	884	K>R		No	ClinGen ExAC gnomAD
CA10315535 rs781048496	885	E>D		No	ClinGen ExAC gnomAD
CA325521340 rs976920989	886	V>A		No	ClinGen TOPMed gnomAD
rs1396499264 CA412178310	888	A>P		No	ClinGen gnomAD
rs769592873 CA10315537	890	P>A		No	ClinGen ExAC TOPMed gnomAD
rs772808572 CA10315538	890	P>L		No	ClinGen ExAC TOPMed gnomAD
rs769592873 CA325521345	890	P>S		No	ClinGen ExAC TOPMed gnomAD
rs774777217 CA10315541	892	V>A		No	ClinGen ExAC gnomAD
rs199696667 CA10315540	892	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1330638186 CA412178398	893	A>V		No	ClinGen gnomAD
rs1169642581 CA412178416	894	V>G		No	ClinGen gnomAD
rs150413435 CA325521351	895	P>H		No	ClinGen ESP TOPMed gnomAD
CA412178423 rs150413435	895	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
rs753070844 CA412178421	895	P>S		No	ClinGen ExAC gnomAD
rs753070844 CA10315544	895	P>T		No	ClinGen ExAC gnomAD
CA10315545 rs760833795	896	P>A		No	ClinGen ExAC gnomAD
rs760833795 CA412178428	896	P>S		No	ClinGen ExAC gnomAD
CA10315548 rs138213252	897	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1342120955 CA412178435 COSM1264866	897	E>K	oesophagus [Cosmic]	No	ClinGen cosmic curated gnomAD
TCGA novel	897	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780039920 CA10315549	899	T>N		No	ClinGen ExAC gnomAD
CA10315550 rs751388743	901	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs554131500 CA10315551	901	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA10315552 rs780802805	902	I>V		No	ClinGen ExAC gnomAD
CA10315553 rs747987760	904	T>I		No	ClinGen ExAC gnomAD
CA412178529 rs1343350553	905	A>T		No	ClinGen TOPMed
CA10315554 rs769540927	907	S>G		No	ClinGen ExAC gnomAD
rs938612695 CA325521389	907	S>N		No	ClinGen TOPMed gnomAD
rs777616944 CA10315555	909	A>P		No	ClinGen ExAC gnomAD
rs777616944 CA412178583	909	A>T		No	ClinGen ExAC gnomAD
rs1005841439 CA325521402	910	G>A		No	ClinGen gnomAD
rs1005841439 CA412178600	910	G>D		No	ClinGen gnomAD
rs1395537231 CA412178606	911	P>A		No	ClinGen gnomAD
CA412178615 rs1364687107	911	P>L		No	ClinGen TOPMed
rs200787999 CA325521415	912	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200787999 CA10315557	912	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1328596163 CA412178636	913	I>L		No	ClinGen gnomAD
CA412178643 rs1228604501	913	I>T		No	ClinGen gnomAD
rs1009752464 CA325521424	914	P>L		No	ClinGen Ensembl
CA412178686 rs377133012	916	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA10315560 rs759900803	916	P>L		No	ClinGen ExAC gnomAD
CA10315559 rs377133012	916	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs772653381 CA10315561	917	A>T		No	ClinGen ExAC gnomAD
CA412178715 rs1310324791	918	V>I		No	ClinGen gnomAD
CA10315563 rs761064320	923	A>D		No	ClinGen ExAC gnomAD
rs761064320 CA412178770	923	A>G		No	ClinGen ExAC gnomAD
rs754130549 CA10315566	924	V>L		No	ClinGen ExAC gnomAD
rs754130549 CA10315565	924	V>M		No	ClinGen ExAC gnomAD
rs1167224015 CA412178786	925	A>T		No	ClinGen gnomAD
CA10315567 rs765174979 COSM3747209 COSM3747208	925	A>V	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs754832746 CA10315569	926	V>G		No	ClinGen ExAC gnomAD
CA412178822 rs1387394885	928	L>P		No	ClinGen gnomAD
CA10315570 rs781319536	928	L>V		No	ClinGen ExAC TOPMed
CA10315571 rs752517704	929	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs573472469 CA10315573	930	P>H		No	ClinGen 1000Genomes ExAC gnomAD
rs975696086 CA325521464	930	P>S		No	ClinGen TOPMed
rs748880877 CA10315574	931	I>S		No	ClinGen ExAC TOPMed gnomAD
CA412178853 rs748880877	931	I>T		No	ClinGen ExAC TOPMed gnomAD
CA10315575 rs756945047	932	M>V		No	ClinGen ExAC gnomAD
rs778234245 CA10315576	933	A>V		No	ClinGen ExAC gnomAD
CA10315577 rs75683035	934	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10315578 rs772423944	935	T>S		No	ClinGen ExAC TOPMed gnomAD
rs952765517 CA325521494	936	A>T		No	ClinGen Ensembl
rs754278801 CA10315579	937	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1340194588 CA412178949	939	A>V		No	ClinGen TOPMed
CA10315581 rs768944848	940	M>V		No	ClinGen ExAC gnomAD
rs1190036455 CA412178977	941	V>A		No	ClinGen TOPMed gnomAD
rs1472336664 CA412178998	943	T>N		No	ClinGen gnomAD
CA412179020 rs1353453935	945	G>E		No	ClinGen TOPMed
CA10315583 rs555973226	945	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA325521504 rs375425685	946	T>A		No	ClinGen ESP TOPMed
CA412179032 rs1603429273	946	T>K		No	ClinGen Ensembl
CA10315586 rs773136253	947	V>L		No	ClinGen ExAC TOPMed gnomAD
rs773136253 CA10315585	947	V>M		No	ClinGen ExAC TOPMed gnomAD
CA10315587 rs767548284	949	K>N		No	ClinGen ExAC gnomAD
rs201661469	950	D>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA412179085 rs201661469	950	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA412179095 rs1411249354	951	G>E		No	ClinGen TOPMed
CA10315589 rs756123853	951	G>R		No	ClinGen ExAC TOPMed gnomAD
rs755448559 CA10315616	952	K>E		No	ClinGen ExAC gnomAD
CA412179193 rs1427073788	952	K>N		No	ClinGen gnomAD
CA10315617 rs370674634	952	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA10315618 rs370674634	952	K>T		No	ClinGen 1000Genomes ExAC gnomAD
CA412179200 rs1173242280	953	T>A		No	ClinGen gnomAD
rs1355617228 CA412179207	953	T>I		No	ClinGen gnomAD
rs1173242280 CA412179197	953	T>P		No	ClinGen gnomAD
rs1391879719 CA412179226	954	D>E		No	ClinGen TOPMed gnomAD
rs140182883 CA10315619	954	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA412179216 rs140182883	954	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1040138238 CA325521599	954	D>V		No	ClinGen TOPMed
rs140182883 CA325521594	954	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs778004591 CA10315620	955	A>T		No	ClinGen ExAC gnomAD
rs377741441 CA10315622	956	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA412179287 rs1297654443	957	P>S		No	ClinGen gnomAD
rs1373711027	958	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs371016489 CA10315624	958	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs768688847 CA10315625	959	G>*		No	ClinGen ExAC gnomAD
rs953046788 CA412179353	959	G>E		No	ClinGen TOPMed
rs768688847 CA10315626	959	G>R		No	ClinGen ExAC gnomAD
rs953046788 CA325521615	959	G>V		No	ClinGen TOPMed
rs765028351 CA10315628	960	A>S		No	ClinGen ExAC gnomAD
rs1372572918 CA412179383	960	A>V		No	ClinGen TOPMed
rs1214593578 CA412179400	961	A>T		No	ClinGen gnomAD
rs1188599690 CA412179474	963	N>S		No	ClinGen gnomAD
rs202067340 CA10315631	966	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA754054822 rs1457216304	967	V>M		No	ClinGen TOPMed

No associated diseases with O75170

No regional properties for O75170

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for O75170

Functions

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

3 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
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.

2 GO annotations of molecular function

Name	Definition
protein phosphatase binding	Binding to a protein phosphatase.
protein phosphatase regulator activity	Binds to and modulates the activity of a protein phosphatase, an enzyme which catalyzes of the removal of a phosphate group from a protein substrate molecule.

1 GO annotations of biological process

Name	Definition
regulation of phosphoprotein phosphatase activity	Any process that modulates the frequency, rate or extent of phosphoprotein phosphatase activity, the catalysis of the hydrolysis of phosphate from a phosphoprotein.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P53036	SAP4	SIT4-associating protein SAP4	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
P43612	SAP155	SIT4-associating protein SAP155	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR

10	20	30	40	50	60
MFWKFDLNTT	SHVDKLLDKE	HVTLQELMDE	DDILQECKAQ	NQKLLDFLCR	QQCMEELVSL
70	80	90	100	110	120
ITQDPPLDME	EKVRFKYPNT	ACELLTCDVP	QISDRLGGDE	SLLSLLYDFL	DHEPPLNPLL
130	140	150	160	170	180
ASFFSKTIGN	LIARKTEQVI	TFLKKKDKFI	SLVLKHIGTS	ALMDLLLRLV	SCVEPAGLRQ
190	200	210	220	230	240
DVLHWLNEEK	VIQRLVELIH	PSQDEDRQSN	ASQTLCDIVR	LGRDQGSQLQ	EALEPDPLLT
250	260	270	280	290	300
ALESQDCVEQ	LLKNMFDGDR	TESCLVSGTQ	VLLTLLETRR	VGTEGLVDSF	SQGLERSYAV
310	320	330	340	350	360
SSSVLHGIEP	RLKDFHQLLL	NPPKKKAILT	TIGVLEEPLG	NARLHGARLM	AALLHTNTPS
370	380	390	400	410	420
INQELCRLNT	MDLLLDLFFK	YTWNNFLHFQ	VELCIAAILS	HAAREERTEA	SGSESRVEPP
430	440	450	460	470	480
HENGNRSLET	PQPAASLPDN	TMVTHLFQKC	CLVQRILEAW	EANDHTQAAG	GMRRGNMGHL
490	500	510	520	530	540
TRIANAVVQN	LERGPVQTHI	SEVIRGLPAD	CRGRWESFVE	ETLTETNRRN	TVDLVSTHHL
550	560	570	580	590	600
HSSSEDEDIE	GAFPNELSLQ	QAFSDYQIQQ	MTANFVDQFG	FNDEEFADQD	DNINAPFDRI
610	620	630	640	650	660
AEINFNIDAD	EDSPSAALFE	ACCSDRIQPF	DDDEDEDIWE	DSDTRCAARV	MARPRFGAPH
670	680	690	700	710	720
ASESCSKNGP	ERGGQDGKAS	LEAHRDAPGA	GAPPAPGKKE	APPVEGDSEG	AMWTAVFDEP
730	740	750	760	770	780
ANSTPTAPGV	VRDVGSSVWA	AGTSAPEEKG	WAKFTDFQPF	CCSESGPRCS	SPVDTECSHA
790	800	810	820	830	840
EGSRSQGPEK	ASQASYFAVS	PASPCAWNVC	VTRKAPLLAS	DSSSSGGSHS	EDGDQKAASA
850	860	870	880	890	900
MDAVSRGPGR	EAPPLPTVAR	TEEAVGRVGC	ADSRLLSPAC	PAPKEVTAAP	AVAVPPEATV
910	920	930	940	950	960
AITTALSKAG	PAIPTPAVSS	ALAVAVPLGP	IMAVTAAPAM	VATLGTVTKD	GKTDAPPEGA

ALNGPV