AiPD: Autoinhibited Protein Database

Q5W0A0

Gene name	ERICH6B (FAM194B)
Protein name	Glutamate-rich protein 6B
Names	Protein FAM194B
Species	Homo sapiens (Human)
KEGG Pathway	hsa:220081
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

119-194 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

119-194 (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 Q5W0A0

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q5W0A0-F1	Predicted				AlphaFoldDB

569 variants for Q5W0A0

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA388240078 rs1341537051	3	A>T		No	ClinGen gnomAD
rs1248956389 CA388240044	7	Q>H		No	ClinGen TOPMed
rs1200089013 CA388240045	7	Q>L		No	ClinGen TOPMed
CA249646893 rs1054358210	8	L>F		No	ClinGen TOPMed gnomAD
CA388240036 rs1290951525	9	S>P		No	ClinGen gnomAD
CA388240027 rs1403676726	10	G>E		No	ClinGen gnomAD
CA249646892 rs781540076	10	G>R		No	ClinGen Ensembl
CA388240024 rs759343288	11	A>S		No	ClinGen ExAC gnomAD
CA6973101 rs759343288	11	A>T		No	ClinGen ExAC gnomAD
rs77819928 CA249646891	13	P>A		No	ClinGen Ensembl
CA388240001 rs1164752837	15	H>Y		No	ClinGen TOPMed gnomAD
CA388239978 rs1459543233	18	T>I		No	ClinGen gnomAD
CA388239967 rs1270167282	20	P>L		No	ClinGen TOPMed
rs776347840 CA6973100	20	P>S		No	ClinGen ExAC TOPMed
rs1170075338 CA388239964	21	Q>*		No	ClinGen gnomAD
rs144228372 CA6973099	24	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388239937 rs1490171933	25	Q>*		No	ClinGen gnomAD
rs924474609 CA249646889	27	L>F		No	ClinGen gnomAD
rs1566304108 CA388239921	27	L>S		No	ClinGen Ensembl
CA388239915 rs1211562878	28	P>S		No	ClinGen TOPMed gnomAD
CA388239917 rs1211562878	28	P>T		No	ClinGen TOPMed gnomAD
rs1045659831 CA249646888	29	S>*		No	ClinGen TOPMed gnomAD
TCGA novel	30	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs371914451 CA6973098	31	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA388239883 rs1319515882	33	D>N		No	ClinGen gnomAD
CA388239881 rs1319515882	33	D>Y		No	ClinGen gnomAD
CA6973097 rs773005410	35	E>D		No	ClinGen ExAC gnomAD
rs1593325200 CA388239858	36	V>A		No	ClinGen Ensembl
rs1302006059 CA388239862	36	V>I		No	ClinGen TOPMed
TCGA novel	37	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388239848 rs1222121405	38	L>I		No	ClinGen TOPMed gnomAD
rs771673127 CA388239836	39	D>E		No	ClinGen ExAC TOPMed gnomAD
CA388239841 rs1345242393	39	D>Y		No	ClinGen gnomAD
rs1294923058 CA388239835	40	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA6973095 rs747610714	41	E>K		No	ClinGen ExAC gnomAD
CA6973094 rs778635020	42	S>I		No	ClinGen ExAC TOPMed gnomAD
rs754620987 CA6973093	44	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA388239795 rs1174517850	45	D>E		No	ClinGen TOPMed gnomAD
rs749694121 CA6973091	45	D>H		No	ClinGen ExAC gnomAD
CA388239792 rs1480010258	46	E>K		No	ClinGen gnomAD
CA249646884 rs936643863	47	S>P		No	ClinGen TOPMed
rs1429312042 CA388239777	48	P>R		No	ClinGen gnomAD
TCGA novel	50	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1200929160 CA388239760	51	P>T		No	ClinGen gnomAD
rs1417163816 CA388239749	52	E>V		No	ClinGen gnomAD
CA388239744 rs1195824774	53	G>E		No	ClinGen gnomAD
CA6973089 rs756516126	53	G>R		No	ClinGen ExAC gnomAD
CA388239738 rs1264148109	54	E>V		No	ClinGen TOPMed gnomAD
rs1458702163 CA388239722	57	E>Q		No	ClinGen gnomAD
rs1202631429 CA388239707	58	D>E		No	ClinGen gnomAD
rs1236072053 CA388239692	60	E>D		No	ClinGen gnomAD
rs1275749660 CA388239694	60	E>G		No	ClinGen gnomAD
rs28454563 CA249646881	61	Y>S		No	ClinGen Ensembl
rs1334464998 CA388239683	62	L>M		No	ClinGen gnomAD
CA249646880 rs12020217 VAR_039969 CA249646879	63	E>D		No	ClinGen TOPMed UniProt dbSNP
CA388239678 rs1473253888	63	E>K		No	ClinGen TOPMed
rs28483053 CA249646878	64	E>D		No	ClinGen Ensembl
CA249646877 rs28584694	65	E>K		No	ClinGen gnomAD
CA249646875 rs28731256	67	D>A		No	ClinGen Ensembl
rs28655664 CA249646876	67	D>Y		No	ClinGen gnomAD
CA249646874 rs867655495	68	L>M		No	ClinGen TOPMed gnomAD
TCGA novel	70	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1403499733 CA388239617	71	E>D		No	ClinGen TOPMed
rs1335040114 CA388239624	71	E>K		No	ClinGen gnomAD
CA388239609 rs188748256	72	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1325110260 CA388239616	72	E>K		No	ClinGen TOPMed
rs1280857283 CA388239607	73	Y>C		No	ClinGen TOPMed gnomAD
CA6973085 rs28621681	73	Y>D		No	ClinGen ExAC TOPMed gnomAD
CA249646872 rs28621681	73	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA249646871 rs867076874	78	E>G		No	ClinGen Ensembl
CA249646870 rs878964933	80	L>M		No	ClinGen Ensembl
CA388239553 rs1593325097	81	K>E		No	ClinGen Ensembl
CA388239545 rs1566303915	82	E>K		No	ClinGen Ensembl
CA388239535 rs1566303908	83	E>G		No	ClinGen Ensembl
rs962629800 CA249646869	83	E>K		No	ClinGen TOPMed gnomAD
rs1233112116 CA388239519	85	Y>C		No	ClinGen TOPMed
CA388239518 rs1233112116	85	Y>F		No	ClinGen TOPMed
CA6973083 rs367701521	86	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs115031064 COSM432432 CA6973082	87	G>E	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs115031064 CA249646868	87	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA249646866 rs878906104	88	K>*		No	ClinGen TOPMed gnomAD
CA249646867 rs878906104	88	K>E		No	ClinGen TOPMed gnomAD
TCGA novel	88	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388239501 rs1279815889	89	E>K		No	ClinGen TOPMed gnomAD
CA388239500 rs1279815889	89	E>Q		No	ClinGen TOPMed gnomAD
rs1202490992 CA388239492	90	E>K		No	ClinGen gnomAD
COSM3704651 CA249646863 rs28404182	91	H>Y	liver [Cosmic]	No	ClinGen cosmic curated Ensembl
rs28417858 CA249646862	93	E>G		No	ClinGen Ensembl
rs28690079 CA249646861	94	E>K		No	ClinGen Ensembl
CA388239457 rs1308854445	95	E>*		No	ClinGen gnomAD
CA388239459 rs1308854445	95	E>K		No	ClinGen gnomAD
CA388239451 rs1348953136	96	E>K		No	ClinGen TOPMed gnomAD
CA249646860 rs28593713	97	Y>H		No	ClinGen Ensembl
CA6973080 rs776438233	98	L>Q		No	ClinGen ExAC gnomAD
rs12020731 VAR_039970 CA249646858	99	E>G		No	ClinGen UniProt Ensembl dbSNP
rs28498988 CA249646856	100	K>*		No	ClinGen Ensembl
rs28498988 CA249646857	100	K>E		No	ClinGen Ensembl
rs1452233096 CA388239417	101	A>E		No	ClinGen TOPMed gnomAD
CA249646855 rs375601783	101	A>S		No	ClinGen ESP TOPMed gnomAD
rs1452233096 CA388239415	101	A>V		No	ClinGen TOPMed gnomAD
rs28564185 CA249646854	102	G>E		No	ClinGen Ensembl
CA249646853 rs183299896	103	Y>C		No	ClinGen 1000Genomes TOPMed gnomAD
rs1593325029 CA388239408	103	Y>H		No	ClinGen Ensembl
CA388239399 rs1156250590	104	L>P		No	ClinGen TOPMed
CA388239401 rs1593325022	104	L>V		No	ClinGen Ensembl
rs773270730 CA6973078	105	E>*		No	ClinGen ExAC gnomAD
rs773270730 CA6973077	105	E>Q		No	ClinGen ExAC gnomAD
rs28473335 CA249646852	106	E>K		No	ClinGen Ensembl
CA388239370 rs566152524 CA249646851	108	E>D		No	ClinGen 1000Genomes gnomAD
rs751747729 CA249646850	109	Y>D		No	ClinGen Ensembl
rs747709445 CA6973075	110	I>L		No	ClinGen ExAC
CA6973074 rs773951715	110	I>M		No	ClinGen ExAC TOPMed
CA249646848 rs547841996	113	E>V		No	ClinGen 1000Genomes
TCGA novel	117	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388239311 rs1382856691	117	G>W		No	ClinGen TOPMed gnomAD
CA388239307 rs1338396114	118	K>E		No	ClinGen TOPMed
rs1488381740 CA388239293	119	E>D		No	ClinGen Ensembl
CA249646845 rs28435464	120	G>E		No	ClinGen TOPMed gnomAD
CA388239280 rs1331769246	121	Y>*		No	ClinGen TOPMed
CA388239282 rs1444887563	121	Y>C		No	ClinGen gnomAD
CA388239286 rs1593324972	121	Y>N		No	ClinGen Ensembl
CA388239269 rs1238891641	123	E>D		No	ClinGen gnomAD
rs28472286 CA249646842	123	E>G		No	ClinGen TOPMed
CA249646843 rs867672590	123	E>K		No	ClinGen TOPMed
rs28711775 CA249646841	124	E>K		No	ClinGen TOPMed
rs28549155 CA249646840	126	E>G		No	ClinGen gnomAD
rs28549155 CA388239248	126	E>V		No	ClinGen gnomAD
CA388239244 rs1254327434	127	Y>H		No	ClinGen TOPMed
TCGA novel	129	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs879125032 CA249646838	129	G>V		No	ClinGen Ensembl
CA249646836 rs28436114	130	K>*		No	ClinGen Ensembl
CA249646837 rs28436114	130	K>E		No	ClinGen Ensembl
rs1217996175 CA388239223	130	K>N		No	ClinGen gnomAD
rs1356421662 CA388239220	131	E>K		No	ClinGen gnomAD
CA249646835 rs532523491	132	E>G		No	ClinGen 1000Genomes TOPMed
rs28667306 CA388239205	133	H>N		No	ClinGen TOPMed
rs28667306 CA249646834	133	H>Y		No	ClinGen TOPMed
rs117004691 CA249646833	135	E>G		No	ClinGen 1000Genomes TOPMed
CA388239186 rs28460344	136	E>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA388239184 rs1433733171	136	E>G		No	ClinGen TOPMed
CA6973070 rs28460344	136	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs45625342 CA249646831	138	E>G		No	ClinGen TOPMed
rs1225503052 CA388239162	139	Y>C		No	ClinGen gnomAD
rs28548352 CA6973069	139	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs201041085 CA249646827	141	G>E		No	ClinGen TOPMed
rs1298509277 CA388239153	141	G>R		No	ClinGen gnomAD
CA6973065 rs375257192	143	E>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1405483837 CA388239139	143	E>K		No	ClinGen gnomAD
rs561157787 CA6973064	144	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1423394395 CA388239124	145	Y>C		No	ClinGen gnomAD
rs891738510 CA249646826	146	L>Q		No	ClinGen TOPMed gnomAD
CA249646825 rs45544742	149	E>V		No	ClinGen Ensembl
rs549134222 CA249646824	152	I>L		No	ClinGen 1000Genomes
rs757644433 CA249646823	152	I>N		No	ClinGen ExAC TOPMed gnomAD
CA6973063 rs757644433	152	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA249646821 rs527407816	153	E>G		No	ClinGen 1000Genomes
rs370486800 CA6973061	155	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA6973060 rs370486800	155	V>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA6973062 rs751678989	155	V>I		No	ClinGen ExAC gnomAD
rs1200303728 CA388239018	161	K>E		No	ClinGen TOPMed
CA388239008 rs200132694	162	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1367029 rs200132694 CA6973059	162	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs760525602 CA6973057	163	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA388238992 rs1392006302	165	E>G		No	ClinGen TOPMed
rs577557654 CA6973056	165	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA388238987 rs934564964	166	E>*		No	ClinGen TOPMed gnomAD
rs934564964 CA249646818	166	E>K		No	ClinGen TOPMed gnomAD
rs1409035432 CA388238957	170	L>M		No	ClinGen gnomAD
CA388238955 rs1340880228	170	L>Q		No	ClinGen gnomAD
CA249646814 rs17066954	174	S>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_039971 rs17066954 CA6973052	174	S>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1294268305 CA388238925	175	Y>H		No	ClinGen TOPMed gnomAD
TCGA novel	177	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6973050 rs533951122	178	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
VAR_039972 CA6973051 rs3014939	178	E>K		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs930366507 CA249646810	179	E>G		No	ClinGen gnomAD
TCGA novel	180	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769262440 CA6973048	181	A>D		No	ClinGen ExAC gnomAD
CA388238882 rs1248556624	181	A>S		No	ClinGen gnomAD
CA388238861 rs1459803787	184	K>T		No	ClinGen TOPMed
CA249646807 rs971666539	189	E>*		No	ClinGen TOPMed gnomAD
CA249646808 rs971666539	189	E>K		No	ClinGen TOPMed gnomAD
rs1321229146 CA388238823	190	E>K		No	ClinGen TOPMed gnomAD
CA388238804 rs1219773285	192	E>A		No	ClinGen TOPMed gnomAD
rs962362359 CA249646806	192	E>K		No	ClinGen Ensembl
rs1277681382 CA388238797	193	A>D		No	ClinGen gnomAD
rs866565898 CA249646804	195	E>G		No	ClinGen TOPMed
rs1024047714 CA249646805	195	E>Q		No	ClinGen TOPMed
rs1376994323 CA388238769	197	E>D		No	ClinGen TOPMed gnomAD
rs1333024953 CA388238755	199	N>S		No	ClinGen gnomAD
rs1467854875 CA388238746	201	D>N		No	ClinGen gnomAD
CA6973046 rs781359785	207	Y>C		No	ClinGen ExAC gnomAD
TCGA novel	208	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388238684 rs1271184409	209	K>R		No	ClinGen TOPMed
rs771496949 CA6973045	213	E>*		No	ClinGen ExAC gnomAD
CA388118681 rs1381006838	214	P>H		No	ClinGen gnomAD
CA388118674 rs1439558213	215	K>T		No	ClinGen gnomAD
CA388118659 rs1160480557	217	S>I		No	ClinGen gnomAD
CA388118655 rs1442833832	218	Y>H		No	ClinGen TOPMed gnomAD
CA388118641 rs1292481333	220	S>P		No	ClinGen TOPMed
CA388118632 rs751604519	221	Q>L		No	ClinGen ExAC gnomAD
CA6973035 rs751604519	221	Q>R		No	ClinGen ExAC gnomAD
CA388118600 COSM947666 rs1240088436	226	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs186534058 CA6973034	226	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs186534058 CA249198556	226	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1488551009 CA388118598	227	D>N		No	ClinGen gnomAD
CA388118587 rs1485961016	228	A>E		No	ClinGen TOPMed
CA249196656 rs568409169	233	A>G		No	ClinGen 1000Genomes TOPMed gnomAD
rs1487905557 CA388118006	233	A>T		No	ClinGen TOPMed gnomAD
CA249196653 rs374992036	234	G>D		No	ClinGen ESP TOPMed
CA388117972 rs1305360087	236	S>C		No	ClinGen gnomAD
rs1593320870 CA388117931	240	T>P		No	ClinGen Ensembl
rs1386722579 CA388117906	241	F>L		No	ClinGen TOPMed
rs1341518724 CA388117873	244	V>A		No	ClinGen gnomAD
CA6973029 rs776312185	245	P>L		No	ClinGen ExAC gnomAD
rs546583410 CA6973030	245	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1459657678 CA388117848	246	L>F		No	ClinGen gnomAD
CA388117821 rs1353022520	248	F>C		No	ClinGen gnomAD
rs1233632586 CA388117814 COSM3772837	249	A>T	pancreas [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1478062541 CA388117796	250	T>S		No	ClinGen gnomAD
CA249196636 rs955639374	251	P>A		No	ClinGen TOPMed
rs1043473859 CA249196633	253	P>S		No	ClinGen TOPMed
rs747372921 CA6973027	254	V>I		No	ClinGen ExAC gnomAD
TCGA novel	255	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs994417747 CA249196605	255	S>P		No	ClinGen TOPMed gnomAD
CA249196580 rs1038036358	258	A>T		No	ClinGen TOPMed
TCGA novel	259	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388117685 rs1475335777	259	T>I		No	ClinGen TOPMed
CA249196561 rs187723842	260	E>V		No	ClinGen 1000Genomes
rs1056055530 CA249196556	263	E>D		No	ClinGen gnomAD
CA6973025 rs114559439	264	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA249196539 rs926882123	267	T>I		No	ClinGen TOPMed gnomAD
rs1297693885 CA388117554	270	R>W		No	ClinGen TOPMed
CA249196531 rs981405174	271	R>K		No	ClinGen TOPMed
rs941558562 CA388117523	272	S>I		No	ClinGen TOPMed gnomAD
rs941558562 CA249196515	272	S>N		No	ClinGen TOPMed gnomAD
rs144518034 CA6973024	273	Q>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6973023 rs144518034	273	Q>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1302556464 CA388117506	274	A>T		No	ClinGen gnomAD
rs1388630688 CA388117483	275	S>R		No	ClinGen TOPMed gnomAD
rs1374753426 CA388117465	277	T>A		No	ClinGen gnomAD
CA388117459 rs1330997684	277	T>R		No	ClinGen gnomAD
CA388117416 rs1402200685	280	C>*		No	ClinGen gnomAD
CA388117386 rs1219175383	282	D>E		No	ClinGen Ensembl
rs573695989 CA249196500	282	D>N		No	ClinGen 1000Genomes TOPMed gnomAD
rs1352773233 CA388117358	285	A>T		No	ClinGen TOPMed
CA249196483 rs562072463	286	V>I		No	ClinGen 1000Genomes TOPMed gnomAD
CA388117344 rs562072463	286	V>L		No	ClinGen 1000Genomes TOPMed gnomAD
CA6973011 rs182532598	291	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA388116280 rs1380326777	293	S>A		No	ClinGen TOPMed
CA249191491 rs901374294	294	E>Q		No	ClinGen TOPMed
rs1234561405 CA388116234	296	E>G		No	ClinGen TOPMed
CA6973009 rs368539765	297	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388116193 rs1298694658	298	E>D		No	ClinGen gnomAD
rs772600831 CA6973008	301	T>M		No	ClinGen ExAC TOPMed gnomAD
CA249191468 rs772600831	301	T>R		No	ClinGen ExAC TOPMed gnomAD
CA388116150 rs1257441949	302	K>E		No	ClinGen TOPMed
VAR_039973 rs11618506 CA6973006	303	L>P		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs11618506 CA388116128	303	L>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388116100 rs1472885249	305	P>L		No	ClinGen TOPMed gnomAD
rs1189993574 CA388116080	306	E>D		No	ClinGen gnomAD
rs1477033761 CA388116077	307	E>K		No	ClinGen gnomAD
rs1423287536 CA388115953	309	V>F		No	ClinGen gnomAD
rs1232813701 CA388115943	310	N>Y		No	ClinGen TOPMed
rs1195039288 CA388115901	312	K>I		No	ClinGen gnomAD
CA6972993 rs752726152	314	Q>*		No	ClinGen ExAC gnomAD
CA388115883 rs1245076406	314	Q>R		No	ClinGen gnomAD
rs754232917	317	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754232917	318	E>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs548563948 CA249190861	319	E>D		No	ClinGen Ensembl
rs1177010051 CA388115365	322	L>P		No	ClinGen TOPMed gnomAD
CA388115375 rs1254908759	322	L>V		No	ClinGen gnomAD
CA249186584 rs952845920	323	E>*		No	ClinGen Ensembl
rs1457454310 CA388115343	323	E>D		No	ClinGen gnomAD
rs774787211 CA6972983	324	F>L		No	ClinGen ExAC TOPMed gnomAD
CA388115308 rs1206425206	325	A>T		No	ClinGen gnomAD
CA249186563 rs922367097	325	A>V		No	ClinGen TOPMed gnomAD
rs763099557 CA249186561	326	S>C		No	ClinGen TOPMed gnomAD
rs1277912296 CA388115220 COSM947663	328	E>D	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA388115191 rs1219677842	329	N>K		No	ClinGen gnomAD
rs1226950585 CA388115119	333	G>S		No	ClinGen TOPMed
CA388115103 rs1291911004	334	I>V		No	ClinGen TOPMed
rs1445606688 CA388115060	336	D>E		No	ClinGen gnomAD
rs1284864389 CA388115064	336	D>V		No	ClinGen Ensembl
CA388115032 rs1361090719	338	S>C		No	ClinGen TOPMed
CA388114986 rs1332915300	341	K>T		No	ClinGen gnomAD
CA6972979 rs770169002	343	E>K		No	ClinGen ExAC gnomAD
CA249186512 rs1020018327	344	V>A		No	ClinGen Ensembl
CA249186522 rs984008597	344	V>M		No	ClinGen TOPMed
rs953434591 CA249186500	345	E>K		No	ClinGen Ensembl
rs1486256500 CA388114908	346	D>G		No	ClinGen gnomAD
rs191884890 CA6972977	349	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388114874 rs373039618	350	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs146512278 CA6972944	352	L>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs878997811 CA249180340	353	N>I		No	ClinGen gnomAD
rs878997811 CA388113969	353	N>S		No	ClinGen gnomAD
rs374121581 CA6972943	354	S>C		No	ClinGen ExAC TOPMed gnomAD
rs185696055 CA249180328	356	Y>C		No	ClinGen 1000Genomes TOPMed gnomAD
rs185696055 CA249180327	356	Y>S		No	ClinGen 1000Genomes TOPMed gnomAD
rs1261905623 CA388113888	358	T>R		No	ClinGen gnomAD
CA388113870 rs1262089104	360	F>V		No	ClinGen TOPMed
CA6972942 rs778733144	363	I>T		No	ClinGen ExAC gnomAD
CA6972941 rs768306075	365	K>R		No	ClinGen ExAC
CA249180309 rs531967941	366	E>G		No	ClinGen 1000Genomes TOPMed
rs193045582 CA388113778	367	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1416510621 CA388113774	367	M>T		No	ClinGen TOPMed gnomAD
rs193045582 CA6972940	367	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1188367000 CA388113747	369	A>T		No	ClinGen Ensembl
rs1357755191 CA388113729	370	H>Q		No	ClinGen gnomAD
rs888306477 CA249180260	370	H>R		No	ClinGen TOPMed gnomAD
CA249180284 rs763696595	370	H>Y		No	ClinGen TOPMed gnomAD
rs1593784641 CA388113719	371	N>S		No	ClinGen Ensembl
CA388113690 rs1276928136	373	L>P		No	ClinGen gnomAD
rs549553603 CA249180249	374	E>K		No	ClinGen 1000Genomes
rs375709577 CA6972939	375	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	376	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1175861246 CA388113550	383	K>E		No	ClinGen TOPMed
CA6972938 rs755689251	384	L>P		No	ClinGen ExAC gnomAD
CA388113490 rs1424594568	387	S>N		No	ClinGen TOPMed
rs923737491 CA249180197	391	W>*		No	ClinGen TOPMed gnomAD
rs1462868613 CA388113430	391	W>G		No	ClinGen TOPMed gnomAD
CA388113429 rs1462868613	391	W>R		No	ClinGen TOPMed gnomAD
CA249180191 rs923737491	391	W>S		No	ClinGen TOPMed gnomAD
rs1566292346 CA388113392	393	L>V		No	ClinGen Ensembl
rs780836528 CA6972936	395	I>T		No	ClinGen ExAC gnomAD
CA388113367 rs1478086440	396	M>T		No	ClinGen TOPMed gnomAD
TCGA novel	397	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	398	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	399	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388113325 rs1330900272	400	N>I		No	ClinGen gnomAD
CA388113319 rs1391823780	401	Y>H		No	ClinGen gnomAD
TCGA novel	402	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs867892205 CA249175344	406	E>K		No	ClinGen Ensembl
CA6972925 rs201110555	408	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA249175339 rs901078410	409	L>S		No	ClinGen TOPMed gnomAD
rs748899069 CA6972922	410	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA6972923 rs60300837	410	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1367024 rs371897974 CA6972921	415	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs907953283 CA249175279	415	R>H		No	ClinGen TOPMed gnomAD
CA388113221 rs907953283	415	R>L		No	ClinGen TOPMed gnomAD
CA249173234 rs902326297	421	T>A		No	ClinGen TOPMed
rs1477105844 CA388113168	421	T>R		No	ClinGen TOPMed gnomAD
TCGA novel	423	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1004271013 CA388113158	423	M>L		No	ClinGen gnomAD
rs1004271013 CA249173233	423	M>V		No	ClinGen gnomAD
CA388113145 rs1448809126	424	T>I		No	ClinGen TOPMed gnomAD
rs1194040738 CA388113148	424	T>S		No	ClinGen TOPMed gnomAD
rs555385380 CA6972903	425	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6972902 rs376443335	425	S>I		No	ClinGen ExAC TOPMed gnomAD
CA6972901 rs749071 VAR_039974	427	T>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1566289519 CA388113128	427	T>P		No	ClinGen Ensembl
CA388113123 rs1189472954	428	F>V		No	ClinGen TOPMed
TCGA novel	429	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	429	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs373148384 CA6972900	431	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388113093 rs1216742889	432	S>G		No	ClinGen gnomAD
rs1214348075 CA388113091	432	S>N		No	ClinGen TOPMed gnomAD
rs746492755 CA6972899	432	S>R		No	ClinGen ExAC gnomAD
CA388113077 rs1299159924	434	P>A		No	ClinGen Ensembl
rs1352943309 CA388113071	435	T>I		No	ClinGen gnomAD
rs141402889 CA6972898	435	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1432369622 CA388113061	437	E>Q		No	ClinGen gnomAD
rs777770574 CA249173196	438	K>N		No	ClinGen TOPMed gnomAD
CA249173189 VAR_039975 rs12429125	439	P>R		No	ClinGen UniProt Ensembl dbSNP
rs1039806650 CA249173161	443	E>*		No	ClinGen Ensembl
rs1040148856 CA249173159	445	Q>R		No	ClinGen TOPMed
rs1441102768 CA388112995	446	K>R		No	ClinGen gnomAD
rs1395715320 CA388112990	447	P>A		No	ClinGen gnomAD
rs936105820 CA249173157	447	P>L		No	ClinGen TOPMed gnomAD
CA388112989 rs1395715320	447	P>S		No	ClinGen gnomAD
CA6972895 COSM3384853 rs547019105	449	R>C	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs547019105 CA388112977	449	R>S		No	ClinGen ExAC TOPMed gnomAD
CA388112965 rs1234808105	451	V>F		No	ClinGen TOPMed gnomAD
CA388112948 rs1193272430	453	H>Q		No	ClinGen TOPMed gnomAD
CA6972893 VAR_039976 rs17066902	453	H>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6972894 rs186423970	453	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1202113835 CA388112945	454	R>K		No	ClinGen TOPMed
rs756224116 CA6972891	457	L>F		No	ClinGen ExAC gnomAD
rs1196572921 CA388112915	458	E>K		No	ClinGen gnomAD
rs866831671 CA249173112 COSM947658	459	R>*	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs866831671 CA388112907	459	R>G		No	ClinGen TOPMed gnomAD
CA6972890 rs181891745	459	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388112896 rs974223431	461	K>E		No	ClinGen TOPMed
rs974223431 CA249173093	461	K>Q		No	ClinGen TOPMed
rs939213661 CA249173089	462	E>G		No	ClinGen Ensembl
CA249173088 rs865983751	463	W>*		No	ClinGen Ensembl
CA388112881 rs1180583245	463	W>R		No	ClinGen TOPMed
rs1378586197 CA388112868	464	I>M		No	ClinGen TOPMed
TCGA novel	467	K>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs190191903 CA6972888	469	V>A		No	ClinGen 1000Genomes ESP TOPMed gnomAD
rs1593773644 CA388112166	470	V>G		No	ClinGen Ensembl
rs995085044 CA249163921	471	H>Y		No	ClinGen TOPMed gnomAD
rs1435706404 CA388112148	473	G>S		No	ClinGen TOPMed
rs1023057154 CA249163912	474	D>G		No	ClinGen TOPMed gnomAD
rs1357966029 CA388112134	475	G>E		No	ClinGen gnomAD
rs1444782514 CA388112136	475	G>R		No	ClinGen TOPMed gnomAD
CA249163898 rs368932818	479	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs368932818 CA6972878	479	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1359790068 CA388112101	480	Y>C		No	ClinGen TOPMed
rs1359790068 CA388112102	480	Y>S		No	ClinGen TOPMed
CA388112094 rs1377298229	481	P>H		No	ClinGen gnomAD
CA388112093 rs1377298229	481	P>L		No	ClinGen gnomAD
rs772560446 CA6972877	481	P>T		No	ClinGen ExAC gnomAD
CA249163851 CA6972875 rs377216055	482	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1254977523 CA388112088	482	N>S		No	ClinGen TOPMed gnomAD
rs1319621015 CA388112070	485	V>I		No	ClinGen TOPMed gnomAD
CA388112060 rs1188083613	486	Y>C		No	ClinGen TOPMed
CA388112050 rs1385909376	487	Q>H		No	ClinGen TOPMed
rs749599422 CA6972872	492	D>G		No	ClinGen ExAC gnomAD
CA6972873 rs769210066	492	D>N		No	ClinGen ExAC
rs1161632977 CA388112015	493	G>R		No	ClinGen TOPMed
CA6972870 rs41292939	495	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1486369209 CA388111996	496	Q>*		No	ClinGen gnomAD
rs1398361736 CA388111992	496	Q>H		No	ClinGen gnomAD
TCGA novel	497	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA249163560 rs902640627	499	Y>C		No	ClinGen gnomAD
rs1243549254 CA388111948	501	S>*		No	ClinGen gnomAD
CA388111936 rs1254847470	503	N>S		No	ClinGen gnomAD
TCGA novel	503	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA249163551 rs917940437	504	L>R		No	ClinGen TOPMed
rs753515705 CA6972863	505	A>P		No	ClinGen ExAC TOPMed gnomAD
rs372031327 CA249163536	506	M>T		No	ClinGen ESP TOPMed
rs1055033765 CA249163533	507	L>F		No	ClinGen TOPMed gnomAD
rs1337648017 CA388111907	508	I>T		No	ClinGen gnomAD
rs937300656 CA249163518	508	I>V		No	ClinGen gnomAD
CA249163503 rs973262512	510	Y>C		No	ClinGen Ensembl
CA388111897 rs1294023105	510	Y>H		No	ClinGen TOPMed gnomAD
rs766375144 CA388111887	511	A>E		No	ClinGen ExAC TOPMed gnomAD
rs1381791631 CA388111890	511	A>T		No	ClinGen gnomAD
rs766375144 CA6972862	511	A>V		No	ClinGen ExAC TOPMed gnomAD
CA388111874 rs760571647	513	M>R		No	ClinGen ExAC TOPMed gnomAD
CA6972861 rs760571647	513	M>T		No	ClinGen ExAC TOPMed gnomAD
CA388111833 rs1479922108	518	Y>*		No	ClinGen Ensembl
CA249163480 rs963560160	519	I>V		No	ClinGen TOPMed
CA388111823 rs1393479386	520	I>F		No	ClinGen gnomAD
CA388111812 rs1255766537	522	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1462787854 CA388111789	525	L>I		No	ClinGen gnomAD
rs1197076152 CA388111780	526	E>G		No	ClinGen gnomAD
rs867099582 CA249163478	527	G>V		No	ClinGen Ensembl
CA6972860 rs79013228	529	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1428610799 CA388111763	529	I>V		No	ClinGen gnomAD
rs771769464 COSM469461 CA6972859	530	R>Q	kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA249163465 rs983634288	530	R>W		No	ClinGen TOPMed gnomAD
TCGA novel	531	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388111750 rs1253216197	531	A>V		No	ClinGen gnomAD
rs1470104797 CA388111709	537	G>D		No	ClinGen gnomAD
CA249163456 rs943941926	539	A>S		No	ClinGen TOPMed
rs138019495 CA6972858	540	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6972857 rs774151691	540	T>I		No	ClinGen ExAC gnomAD
rs1308184761 CA388111690	541	F>L		No	ClinGen gnomAD
rs1297752736 CA388111680	542	Y>C		No	ClinGen gnomAD
CA249159241 rs1031185541	549	W>*		No	ClinGen TOPMed
rs1433625343 CA388111487	552	L>V		No	ClinGen gnomAD
CA6972851 rs552252490	555	N>S		No	ClinGen ExAC TOPMed gnomAD
CA6972850 rs371266878	557	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA388111448 rs1203264243	558	Y>C		No	ClinGen TOPMed
rs1355811947 CA388111451	558	Y>H		No	ClinGen TOPMed
CA388111440 rs751568577	559	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA6972849 rs751568577	559	Y>S		No	ClinGen ExAC TOPMed gnomAD
CA249159196 rs569722960	561	P>R		No	ClinGen 1000Genomes
CA249159190 rs879164523	562	K>T		No	ClinGen Ensembl
CA388111410 rs1362834513	563	D>E		No	ClinGen gnomAD
rs376048631 CA249159181	564	K>T		No	ClinGen Ensembl
VAR_039977 CA6972848 rs7327901	565	R>C		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6972847 rs758563788	565	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1386174115 CA388111394	566	Q>R		No	ClinGen Ensembl
TCGA novel	568	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388111366 rs1186352220	570	N>D		No	ClinGen gnomAD
CA249159154 rs901555360	571	W>*		No	ClinGen TOPMed
CA388111356 rs1485389537	571	W>S		No	ClinGen gnomAD
CA249159152 rs1039976572	572	W>*		No	ClinGen TOPMed gnomAD
rs1179658784 CA388111336	573	N>K		No	ClinGen TOPMed
CA6972846 rs752935669	575	N>S		No	ClinGen ExAC gnomAD
CA6972845 rs374526358	577	H>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1469071923 CA388111309	578	V>I		No	ClinGen TOPMed
rs1456287711 CA388111303	579	H>N		No	ClinGen gnomAD
rs112232111 CA249159120	580	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1416306477 CA388111293	580	A>V		No	ClinGen TOPMed
CA388111287 rs1441012968	581	P>H		No	ClinGen gnomAD
CA388111290 rs1291381820	581	P>T		No	ClinGen gnomAD
TCGA novel	582	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA249159110 rs527763848	582	P>R		No	ClinGen gnomAD
CA388111284 rs1355562434	582	P>T		No	ClinGen gnomAD
CA388111279 rs1405635228	583	V>L		No	ClinGen TOPMed
rs1051813501 CA249159097	584	Q>*		No	ClinGen Ensembl
rs1309746075 CA388111256	586	I>T		No	ClinGen TOPMed
TCGA novel	590	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388111224 rs1299817392	591	N>D		No	ClinGen Ensembl
rs1454641982 CA388111221	591	N>S		No	ClinGen gnomAD
CA388111217 rs1365845363	592	E>*		No	ClinGen gnomAD
CA388111215 rs1365845363	592	E>K		No	ClinGen gnomAD
CA249159083 rs770926604	597	Q>P		No	ClinGen Ensembl
rs931980874 CA249159076	598	I>L		No	ClinGen Ensembl
rs780390003 CA249159060	599	R>S		No	ClinGen TOPMed gnomAD
CA249159044 rs142656281	600	S>I		No	ClinGen 1000Genomes
CA388111146 rs1345615068	602	D>N		No	ClinGen TOPMed
rs1190207763 CA388111119	605	I>T		No	ClinGen TOPMed gnomAD
CA388111105 rs1445352349	607	C>G		No	ClinGen gnomAD
COSM1367023 CA249159039 rs930517957	608	F>S	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA249159036 rs927107227	610	Y>C		No	ClinGen TOPMed gnomAD
rs1379205499 CA388111079	611	E>K		No	ClinGen TOPMed gnomAD
CA388111062 rs1261373829	613	K>E		No	ClinGen gnomAD
rs867618281 CA249159035	614	Q>*		No	ClinGen TOPMed gnomAD
CA388111054 rs867618281	614	Q>E		No	ClinGen TOPMed gnomAD
rs1335429966 CA388111036	616	C>*		No	ClinGen gnomAD
rs1270983145 CA388111041	616	C>R		No	ClinGen gnomAD
rs750394584 CA6972843	616	C>Y		No	ClinGen ExAC gnomAD
rs767496773 CA6972842	620	G>A		No	ClinGen ExAC TOPMed gnomAD
rs949946728 CA249159014	620	G>S		No	ClinGen TOPMed
rs1224681738 CA388111007	621	T>N		No	ClinGen gnomAD
CA388111002 rs1331927734	622	R>T		No	ClinGen TOPMed gnomAD
CA388110990 rs1428628628	623	Y>*		No	ClinGen TOPMed
rs778947218 CA249155994	626	V>M		No	ClinGen gnomAD
rs373929461 CA388110369	632	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA249155991 rs368780411	633	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA6972831 rs368780411	633	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	634	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1202385867 CA388110276	637	K>E		No	ClinGen gnomAD
COSM947656 rs1593767801 CA388110246	638	T>I	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
CA249155984 rs952935067	639	I>T		No	ClinGen Ensembl
rs1283916475 CA388110239	639	I>V		No	ClinGen gnomAD
rs1223325603 CA388110214	640	L>P		No	ClinGen TOPMed gnomAD
CA388110201 rs1345902146	641	E>A		No	ClinGen gnomAD
CA388110188 rs1437217829	642	A>T		No	ClinGen gnomAD
TCGA novel	644	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388110121 rs1330293189	645	G>D		No	ClinGen TOPMed gnomAD
CA6972829 rs200379879	645	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA6972828 rs540759600	647	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs540759600 CA249155930	647	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6972826 rs375914112	650	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1372223958 CA388110076	650	K>M		No	ClinGen gnomAD
CA388110072 rs1169208592	651	I>V		No	ClinGen TOPMed
rs891762458 CA388110064	652	R>L		No	ClinGen TOPMed gnomAD
CA249155817 rs891762458	652	R>Q		No	ClinGen TOPMed gnomAD
CA6972825 rs539323442	652	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6972823 VAR_039978 rs1536207	653	V>F		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA388110063 rs1536207	653	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA388110062 rs1536207	653	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754024506 CA249155809	656	G>E		No	ClinGen Ensembl
rs1431719232 CA388110040	657	K>*		No	ClinGen gnomAD
CA6972822 rs545920235	658	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1593767677 CA388109991	659	N>D		No	ClinGen Ensembl
CA388109965 rs1435521612	660	R>K		No	ClinGen TOPMed gnomAD
CA6972821 rs118131230	661	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388109943 rs1175307195	661	L>P		No	ClinGen gnomAD
rs762511635 CA6972820	664	Y>C		No	ClinGen ExAC gnomAD
CA388109871 rs764874398	665	A>E		No	ClinGen ExAC gnomAD
CA6972819 rs369694920	665	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs764874398 CA6972818	665	A>V		No	ClinGen ExAC gnomAD
CA6972816 rs776929167	668	P>S		No	ClinGen ExAC TOPMed gnomAD
CA249155723 rs376082669	670	L>M		No	ClinGen ESP
CA249155704 rs947787600	670	L>Q		No	ClinGen TOPMed gnomAD
CA249155691 rs916286722	673	F>L		No	ClinGen TOPMed
CA388109707 rs566924072	674	I>L		No	ClinGen 1000Genomes TOPMed
rs771457024 CA6972814	674	I>T		No	ClinGen ExAC TOPMed gnomAD
CA249155685 rs566924072	674	I>V		No	ClinGen 1000Genomes TOPMed
TCGA novel	675	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1016560085 CA249155675	676	A>V		No	ClinGen TOPMed gnomAD
rs371764533 CA388109654	677	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM3360105 CA6972812 rs371764533	677	V>I	kidney [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA6972810 rs748192599	679	I>M		No	ClinGen ExAC gnomAD
rs772114034 CA6972811	679	I>V		No	ClinGen ExAC
CA249155651 rs983788913	680	S>T		No	ClinGen Ensembl
rs1361187498 CA388109590	682	M>I		No	ClinGen gnomAD
rs779016919 CA6972809	682	M>T		No	ClinGen ExAC TOPMed gnomAD
CA249155632 rs759227319	686	Y>H		No	ClinGen TOPMed
rs755180429 CA6972808	690	M>I		No	ClinGen ExAC gnomAD
CA698444001 rs1467700100	697	F>L		No	ClinGen Ensembl
CA388109483 rs1458987237	697	F>Q		No	ClinGen TOPMed

No associated diseases with Q5W0A0

7 regional properties for Q5W0A0

Type	Name	Position	InterPro Accession
domain	FERM domain	17 - 298	IPR000299
domain	FERM adjacent	308 - 354	IPR014847
domain	FERM, N-terminal	21 - 83	IPR018979
domain	FERM, C-terminal PH-like domain	214 - 302	IPR018980
conserved_site	FERM conserved site	71 - 100	IPR019747
domain	FERM central domain	103 - 210	IPR019748
domain	Band 4.1 domain	13 - 210	IPR019749

Functions

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

No GO annotations of cellular component

Name	Definition
No GO annotations for cellular component

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q7L0X2	ERICH6	Glutamate-rich protein 6	Homo sapiens (Human)	PR

10	20	30	40	50	60
MSAENNQLSG	ASPPHPPTTP	QYSTQNLPSE	KEDTEVELDE	ESLQDESPFS	PEGESLEDKE
70	80	90	100	110	120
YLEEEEDLEE	EEYLGKEEYL	KEEEYLGKEE	HLEEEEYLEK	AGYLEEEEYI	EEEEYLGKEG
130	140	150	160	170	180
YLEEEEYLGK	EEHLEEEEYL	GKEGYLEKED	YIEEVDYLGK	KAYLEEEEYL	GKKSYLEEEK
190	200	210	220	230	240
ALEKEENLEE	EEALEKEENL	DGKENLYKKY	LKEPKASYSS	QTMLLRDARS	PDAGPSQVTT
250	260	270	280	290	300
FLTVPLTFAT	PSPVSESATE	SSELLLTLYR	RSQASQTDWC	YDRTAVKSLK	SKSETEQETT
310	320	330	340	350	360
TKLAPEEHVN	TKVQQKKEEN	VLEFASKENF	WDGITDESID	KLEVEDLDEN	FLNSSYQTVF
370	380	390	400	410	420
KTIIKEMAAH	NELEEDFDIP	LTKLLESENR	WKLVIMLKKN	YEKFKETILR	IKRRREAQKL
430	440	450	460	470	480
TEMTSFTFHL	MSKPTPEKPE	TEEIQKPQRV	VHHRKKLERD	KEWIQKKTVV	HQGDGKLILY
490	500	510	520	530	540
PNKNVYQILF	PDGTGQIHYP	SGNLAMLILY	AKMKKFTYII	LEDSLEGRIR	ALINNSGNAT
550	560	570	580	590	600
FYDENSDIWL	NLSSNLGYYF	PKDKRQKAWN	WWNLNIHVHA	PPVQPISLKI	NEYIQVQIRS
610	620	630	640	650	660
QDKIIFCFTY	EQKQICLNLG	TRYKFVIPEV	LSEMKKKTIL	EAEPGPTAQK	IRVLLGKMNR
670	680	690
LLNYATTPDL	ENFIEAVSIS	LMDNKYLKKM	LSKLWF