AiPD: Autoinhibited Protein Database

Q96QG7

Gene name	MTMR9 (C8orf9, MTMR8)
Protein name	Myotubularin-related protein 9
Names	Inactive phosphatidylinositol 3-phosphatase 9
Species	Homo sapiens (Human)
KEGG Pathway	hsa:66036
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

175-244 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

175-244 (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 Q96QG7

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q96QG7-F1	Predicted				AlphaFoldDB

631 variants for Q96QG7

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA4628793 RCV002821876 rs267601725	549	P>S	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs768475759 CA4628094	2	E>Q		No	ClinGen ExAC gnomAD
rs1585100525 CA370304470	3	F>V		No	Ensembl ClinGen
CA172016642 rs985065640	5	E>Q		No	ClinGen Ensembl
CA370304529 rs1239914978	8	K>E		No	gnomAD ClinGen
CA4628096 rs761461863	10	P>S		No	ClinGen ExAC TOPMed gnomAD
CA370304556 rs761461863	10	P>T		No	ExAC TOPMed gnomAD ClinGen
rs767284311 CA4628097	11	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA370304579 rs1376755878 CA370304575	12	V>L		No	gnomAD ClinGen
rs976676633 CA370304596	13	D>E		No	ClinGen TOPMed gnomAD
CA4628099 rs760286739	13	D>H		No	ClinGen ExAC gnomAD
CA4628100 rs760286739	13	D>N		No	ExAC gnomAD ClinGen
rs527503354 CA4628101	14	N>D		No	ExAC TOPMed gnomAD ClinGen
CA4628102 rs141460029	14	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA370304609 rs1254895580	15	V>M		No	ClinGen gnomAD
rs778084688 CA4628103	16	V>L		No	ExAC gnomAD ClinGen
rs1196771659 CA370304637	17	L>R		No	gnomAD ClinGen
rs751957086 CA4628104	18	H>P		No	ClinGen ExAC gnomAD
CA4628105 rs771468577	18	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA370304643 rs1481989678	18	H>Y		No	TOPMed gnomAD ClinGen
rs746134648 CA4628107	19	R>G		No	ExAC TOPMed gnomAD ClinGen
CA4628108 rs746134648	19	R>W		No	ClinGen ExAC TOPMed gnomAD
rs143537669 CA4628110	20	P>H		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs143537669 CA4628111	20	P>L		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs780249428 CA4628109	20	P>S		No	ClinGen ExAC TOPMed gnomAD
CA370304699 rs1170761640	22	Y>*		No	gnomAD ClinGen
CA4628112 rs774089621	23	P>T		No	ExAC TOPMed gnomAD ClinGen
CA172016770 rs899043397	24	A>G		No	TOPMed gnomAD ClinGen
CA370304717 rs899043397	24	A>V		No	TOPMed gnomAD ClinGen
CA4628114 rs771945458	25	V>F		No	ExAC TOPMed gnomAD ClinGen
CA172016780 rs903570205	26	E>D		No	Ensembl ClinGen
CA4628115 rs773121354	27	G>S		No	ExAC gnomAD ClinGen
CA172016793 rs200595932	28	T>I		No	TOPMed gnomAD ClinGen
rs1388548025 CA370304792	31	L>V		No	TOPMed ClinGen
rs150992084 CA370304810	32	T>M		No	ClinGen ESP gnomAD
CA172016834 rs150992084	32	T>R		No	ClinGen ESP gnomAD
CA4628117 rs766116034	33	G>S		No	ExAC gnomAD ClinGen
CA4628119 rs758902754	34	H>Y		No	ClinGen ExAC gnomAD
rs1205562164 CA370304845	35	H>R		No	gnomAD ClinGen
CA370304855 rs1465615139	36	L>V		No	TOPMed ClinGen
rs369654482 CA4628120	38	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1482816118 CA370304879	38	L>V		No	ClinGen gnomAD
CA370304897 rs1288454156	40	S>A		No	TOPMed ClinGen
CA172016871 rs1054685760	41	R>G		No	Ensembl ClinGen
TCGA novel	41	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370304905 TCGA novel rs1054685760	41	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	Ensembl ClinGen NCI-TCGA
CA172016873 rs895069692	42	Q>K		No	TOPMed gnomAD ClinGen
rs1470652799 CA370304918	42	Q>R		No	gnomAD ClinGen
rs1179267708 CA370304925	43	D>N		No	ClinGen TOPMed gnomAD
CA370304942 rs1465883075	44	N>D		No	gnomAD ClinGen
CA370304945 rs1289750057	44	N>S		No	ClinGen TOPMed gnomAD
rs1322328112 CA370304957	45	T>K		No	TOPMed ClinGen
rs1322328112 CA370304959	45	T>M		No	TOPMed ClinGen
rs780084606 CA4628126 CA370304987	47	E>D		No	ExAC TOPMed gnomAD ClinGen
CA370305042 rs1225408449	52	H>R		No	ClinGen TOPMed gnomAD
rs748146950 CA4628130	54	N>D		No	ClinGen ExAC TOPMed gnomAD
CA4628131 rs772106512	54	N>K		No	ExAC gnomAD ClinGen
rs1216250694 CA370305077	55	I>S		No	gnomAD ClinGen
rs746740870 CA4628133	56	D>E		No	ClinGen ExAC gnomAD
rs1189851247 CA370305090	56	D>G		No	ClinGen TOPMed
rs1192533821 CA370305098	57	A>T		No	ClinGen TOPMed gnomAD
rs770710726 CA4628134	58	I>M		No	ClinGen ExAC TOPMed gnomAD
rs952057766 CA370305132	59	D>E		No	TOPMed gnomAD ClinGen
rs776106544 CA4628136	59	D>G		No	ClinGen ExAC TOPMed gnomAD
rs776106544 CA4628135	59	D>V		No	ExAC TOPMed gnomAD ClinGen
rs1329706935 CA370305125	59	D>Y		No	ClinGen gnomAD
rs1300177779 CA370305138	60	K>Q		No	gnomAD ClinGen
rs984796067 CA172016973	61	R>L		No	Ensembl ClinGen
rs1056867358 CA172026702	62	F>Y		No	TOPMed gnomAD ClinGen
rs777874623 CA370306484 CA4628167	63	V>L		No	ClinGen ExAC gnomAD
CA370306494 rs1244202041	65	S>P		No	ClinGen TOPMed gnomAD
rs1161727199 CA370306501	66	L>V		No	ClinGen gnomAD
rs1242221448 CA370306530	70	I>M		No	TOPMed ClinGen
rs779619300 CA4628173	71	I>L		No	ClinGen ExAC gnomAD
rs1398043817 COSM1095007 CA370306534	71	I>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs768106091 CA4628175	73	C>W		No	ClinGen ExAC gnomAD
rs1449489090 CA370306564	75	D>G		No	ClinGen TOPMed
rs761128673 CA4628177	76	F>L		No	ClinGen ExAC TOPMed gnomAD
COSM1215718 rs771466548 CA4628178	77	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs771466548 CA172026765	77	R>G		No	ExAC TOPMed gnomAD ClinGen
rs370972294 CA172026767	77	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1095008 rs370972294 CA4628179	77	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ESP ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
CA370306582 rs1215825220	78	I>M		No	ClinGen gnomAD
CA4628180 rs759875697	79	I>F		No	ExAC TOPMed gnomAD ClinGen
CA4628181 rs765587172	79	I>T		No	ExAC TOPMed gnomAD ClinGen
rs141486788 CA370306594 CA4628182	80	Q>H		No	ESP ExAC TOPMed gnomAD ClinGen
CA370306596 rs1330738382	81	L>V		No	ClinGen TOPMed
TCGA novel	81	L>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4628183 rs763241311	82	D>G		No	ExAC gnomAD ClinGen
rs1304044966 CA370306603	82	D>H		No	TOPMed ClinGen
CA370306621 rs1185816531	84	P>L		No	gnomAD ClinGen
CA370306617 rs1263507542	84	P>S		No	ClinGen TOPMed gnomAD
rs1487619038 CA370306630	86	M>L		No	TOPMed gnomAD ClinGen
CA370306629 rs1487619038	86	M>V		No	ClinGen TOPMed gnomAD
CA370306644 CA370306643 rs1237123934	87	E>D		No	TOPMed gnomAD ClinGen
rs532507412 CA4628185	88	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1196103459 CA370306665	90	L>F		No	gnomAD ClinGen
rs145260713 CA172026812	92	I>M		No	ClinGen ESP TOPMed gnomAD
rs781128526 CA4628187	92	I>T		No	ExAC gnomAD ClinGen
rs757197251 CA4628186	92	I>V		No	ClinGen ExAC TOPMed gnomAD
CA370306690 rs1412580140	94	S>I		No	ClinGen gnomAD
rs1199714237 CA370306685	94	S>R		No	TOPMed ClinGen
rs1412580140 CA370306689	94	S>T		No	gnomAD ClinGen
CA4628189 rs755901597	95	S>C		No	ExAC gnomAD ClinGen
rs748989990 CA4628191	96	I>N		No	ExAC TOPMed gnomAD ClinGen
CA370306701 rs748989990	96	I>T		No	ClinGen ExAC TOPMed gnomAD
CA172026820 rs1030345453	96	I>V		No	TOPMed gnomAD ClinGen
rs1563267795 CA370306704	97	E>Q		No	ClinGen Ensembl
rs779125316 CA4628236	98	A>S		No	ClinGen ExAC gnomAD
rs1463596955 CA370306734	99	L>F		No	gnomAD ClinGen
CA172031350 rs372215706	100	S>F		No	ESP TOPMed gnomAD ClinGen
CA370306745 rs1394565006	101	T>I		No	TOPMed ClinGen
rs1400126061 CA370306748	102	L>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
CA370306753 rs1304909540	103	D>G		No	gnomAD ClinGen
CA4628238 rs772183374	103	D>H		No	ExAC TOPMed gnomAD ClinGen
CA4628239 rs772183374	103	D>N		No	ClinGen ExAC TOPMed gnomAD
CA4628240 rs772183374	103	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs770884709 CA4628241	104	S>C		No	ExAC gnomAD ClinGen
CA172031364 rs376675593	105	I>N		No	ESP ClinGen
CA4628242 rs776498985	105	I>V		No	ExAC TOPMed gnomAD ClinGen
rs1001419423 CA172031396	110	P>R		No	ClinGen TOPMed
rs765116351 CA4628245	110	P>S		No	ClinGen ExAC TOPMed gnomAD
rs765116351 CA4628244	110	P>T		No	ExAC TOPMed gnomAD ClinGen
rs762724121 CA4628246	111	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1255148693 CA370306802	111	F>S		No	ClinGen TOPMed
rs763594140 CA4628247	113	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs191058356 CA4628248	114	R>C		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA4628250 rs773323583	114	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4628249 rs773323583	114	R>L		No	ExAC TOPMed gnomAD ClinGen
rs1216965447 CA370306826	115	P>H		No	gnomAD ClinGen
COSM1719539 rs1216965447 CA370306828	115	P>L	NS [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1482805431 CA370306825	115	P>S		No	TOPMed gnomAD ClinGen
rs1482805431 CA370306823	115	P>T		No	TOPMed gnomAD ClinGen
rs779404977 CA4628253	116	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1359300235 CA370306833	116	M>T		No	TOPMed gnomAD ClinGen
CA4628252 rs367837539 COSM1187493	116	M>V	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs748451227 CA4628254	117	F>C		No	ExAC TOPMed gnomAD ClinGen
CA370306842 rs1563271338	117	F>L		No	ClinGen Ensembl
rs777793737 CA4628256	119	V>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs769963819 CA4628255	119	V>L		No	ExAC TOPMed gnomAD ClinGen
CA370306851 rs769963819	119	V>M		No	ExAC TOPMed gnomAD ClinGen
CA4628258 rs771044539	120	I>M		No	ExAC gnomAD ClinGen
rs200687372 CA4628257	120	I>V		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA370306865 rs1458291584	121	E>V		No	TOPMed ClinGen
CA4628260 rs759531787	122	D>G		No	ExAC TOPMed gnomAD ClinGen
CA4628259 rs776656921	122	D>Y		No	ClinGen ExAC
CA4628261 rs769604574	123	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1240634313 CA370306887	124	W>C		No	ClinGen gnomAD
rs547127211 CA4628262	125	H>R		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA370306890 rs1362617835	125	H>Y		No	gnomAD ClinGen
CA4628263 RCV000967078 rs116655282	126	S>C		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
CA370306898 rs116655282	126	S>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs536024029 CA4628264	132	E>A		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs751209576 CA4628265	134	E>G		No	ExAC gnomAD ClinGen
rs1240524150 CA370306958	135	L>F		No	ClinGen gnomAD
rs1446208991 CA370306962	135	L>R		No	ClinGen TOPMed
CA4628266 rs761536304	136	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA4628267 rs761536304	136	Y>F		No	ExAC TOPMed gnomAD ClinGen
CA4628268 rs749953636	137	S>A		No	ClinGen ExAC gnomAD
CA370306979 rs1246826611	138	S>L		No	ClinGen TOPMed gnomAD
rs554732474 CA172031535	138	S>P		No	ClinGen 1000Genomes gnomAD
CA370306983 rs1315956251	139	A>G		No	ClinGen TOPMed
rs141468146 CA370306980	139	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA4628270 rs141468146	139	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1230019461 CA370307002	140	T>I		No	ClinGen TOPMed
rs1445693148 CA370307009	141	S>I		No	TOPMed gnomAD ClinGen
rs751903514 CA4628291	142	E>A		No	ClinGen ExAC TOPMed gnomAD
CA370307012 rs1284428531	142	E>K		No	ClinGen gnomAD
CA370307022 rs757483621	143	W>*		No	ClinGen ExAC gnomAD
CA4628292 rs757483621	143	W>L		No	ExAC gnomAD ClinGen
CA172035330 rs913690541	144	R>S		No	ClinGen Ensembl
rs1413430341 CA370307036	145	L>P		No	TOPMed gnomAD ClinGen
rs1413430341 CA370307037	145	L>R		No	TOPMed gnomAD ClinGen
rs1043456467 CA172035331	146	S>R		No	ClinGen Ensembl
CA4628295 rs139991418	147	Y>C		No	ESP ExAC TOPMed gnomAD ClinGen
CA370307048 rs139991418	147	Y>S		No	ESP ExAC TOPMed gnomAD ClinGen
CA370307076 rs1181489541	151	E>Q		No	TOPMed gnomAD ClinGen
rs774346464 CA4628299	154	V>A		No	ClinGen ExAC gnomAD
CA4628298 rs145333696	154	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs558748030 CA4628301	156	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs760349797 CA4628303	156	P>H		No	ClinGen ExAC TOPMed gnomAD
rs760349797 CA370307109	156	P>R		No	ClinGen ExAC TOPMed gnomAD
rs558748030 CA4628302	156	P>S		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA4628304 rs765844945	157	S>A		No	ExAC gnomAD ClinGen
rs760001119 CA4628305	159	P>S		No	ExAC gnomAD ClinGen
CA4628307 rs770170696	160	P>L		No	ClinGen ExAC gnomAD
CA370307131 rs1563274783	160	P>S		No	Ensembl ClinGen
CA4628309 rs757575958	161	I>T		No	ExAC TOPMed gnomAD ClinGen
CA4628308 rs541309581	161	I>V		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA370307162 rs1354064221	165	P>H		No	ClinGen TOPMed
rs750662474 CA370307167	166	K>I		No	ClinGen ExAC gnomAD
rs750662474 CA4628311	166	K>T		No	ExAC gnomAD ClinGen
CA4628313 rs780065063	168	I>L		No	ClinGen ExAC
CA370307184 rs1361536738	169	D>A		No	ClinGen TOPMed
rs373013971 CA4628315	169	D>N		No	ESP ExAC TOPMed gnomAD ClinGen
rs149967253 CA4628317	171	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA172035470 rs1050681299	172	A>G		No	TOPMed gnomAD ClinGen
CA4628318 rs199922354	173	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs763233793 CA4628321	174	R>L		No	ExAC TOPMed gnomAD ClinGen
rs763233793 CA4628320	174	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM170277 rs144999294 CA4628319	174	R>W	Variant assessed as Somatic; 0.0006468 impact. large_intestine skin endometrium [NCI-TCGA, Cosmic]	No	ESP ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
CA4628322 rs776014434	175	K>R		No	ExAC gnomAD ClinGen
CA4628323 rs759018902	176	V>G		No	ClinGen ExAC gnomAD
rs1036870148 CA172035488	176	V>L		No	TOPMed gnomAD ClinGen
CA370307231 rs1320605334	177	A>G		No	ClinGen gnomAD
rs774788652 CA4628325	181	H>L		No	ExAC gnomAD ClinGen
CA370307257 rs762285077	181	H>Q		No	ExAC TOPMed gnomAD ClinGen
CA370307262 rs149073098	182	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4628327 rs149073098	182	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA370307259 rs1360727132	182	G>R		No	gnomAD ClinGen
CA370307272 rs1325321359	184	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
CA172035534 rs764306900	184	R>H		No	ClinGen ExAC gnomAD
CA4628330 rs764306900	184	R>L		No	ClinGen ExAC gnomAD
CA4628331 rs753871264	187	V>L		No	ExAC gnomAD ClinGen
rs181339553 CA4628334	188	L>I		No	1000Genomes ExAC gnomAD ClinGen
CA4628333 rs181339553	188	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1488710759 CA370307301	189	S>I		No	TOPMed gnomAD ClinGen
CA4628336 rs375744728	189	S>R		No	ESP ExAC TOPMed gnomAD ClinGen
rs1446494378 CA370307309	190	Y>*		No	ClinGen gnomAD
CA370307305 rs1261173035	190	Y>N		No	gnomAD ClinGen
CA370307317 rs746757460	191	Y>*		No	ClinGen ExAC gnomAD
CA370307311 rs1199561485	191	Y>N		No	ClinGen gnomAD
CA370307320 rs770493177	192	H>N		No	ExAC gnomAD ClinGen
CA370307324 rs780856778	192	H>Q		No	ExAC ClinGen
CA4628338 rs770493177	192	H>Y		No	ExAC gnomAD ClinGen
CA370307329 rs1172735876	193	K>T		No	ClinGen gnomAD
CA4628342 rs769341315	194	K>R		No	ClinGen ExAC gnomAD
rs767880823	195	N>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs767880823	195	N>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1343028054 CA370307345	195	N>S		No	ClinGen TOPMed
rs1272117081 CA370307356	197	M>V		No	TOPMed ClinGen
rs767413947 CA4628375	198	V>A		No	ClinGen ExAC TOPMed gnomAD
CA370307378 rs767413947	198	V>E		No	ClinGen ExAC TOPMed gnomAD
rs757109533 CA4628374	198	V>I		No	ClinGen ExAC gnomAD
rs3021506 CA172036558	200	M>L		No	ClinGen gnomAD
CA370307389 rs1366271778	200	M>T		No	gnomAD ClinGen
CA370307387 rs3021506	200	M>V		No	gnomAD ClinGen
CA370307396 rs1429114187	201	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	Ensembl ClinGen NCI-TCGA
rs755777230 CA4628377	202	S>G		No	ExAC gnomAD ClinGen
CA172036568 rs1055532127	203	G>S		No	TOPMed gnomAD ClinGen
rs1204724560 CA370307418	204	Q>H		No	TOPMed ClinGen
CA370307426 rs1436103920	206	L>V		No	ClinGen gnomAD
rs1273146731 CA370307432	207	T>P		No	ClinGen gnomAD
CA4628378 rs529793084	207	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA370307437 rs1296862217	208	G>S		No	ClinGen gnomAD
rs748830867 CA4628379	209	T>A		No	ExAC TOPMed gnomAD ClinGen
rs754466443 CA4628380	209	T>I		No	ExAC gnomAD ClinGen
CA4628381 rs754466443	209	T>K		No	ClinGen ExAC gnomAD
TCGA novel	210	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771326753 CA4628384	211	G>R		No	ExAC TOPMed gnomAD ClinGen
CA4628385 rs771326753	211	G>W		No	ClinGen ExAC TOPMed gnomAD
CA4628387 rs145217990	212	R>T		No	ESP ExAC TOPMed gnomAD ClinGen
CA370307466 rs1563275964	213	R>K		No	ClinGen Ensembl
TCGA novel	213	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370307473 rs1202326685	214	C>S		No	gnomAD ClinGen
rs1250588884 CA370307475	214	C>S		No	ClinGen gnomAD
CA370307481 rs1298843133	215	K>Q		No	TOPMed ClinGen
CA370307491 rs1211969357	216	E>G		No	gnomAD ClinGen
CA370307497 rs1585121719	217	D>N		No	Ensembl ClinGen
rs137901400 CA4628390	218	E>Q		No	ESP ExAC TOPMed gnomAD ClinGen
rs774289626 CA4628391	219	K>E		No	ClinGen ExAC gnomAD
rs761870250 CA4628392	219	K>M		No	ClinGen ExAC gnomAD
CA370307522 rs1176158106	221	I>L		No	TOPMed ClinGen
rs1479113395 CA370307536	223	A>T		No	ClinGen gnomAD
CA4628394 rs750225160	224	T>S		No	ExAC TOPMed gnomAD ClinGen
rs766044435 CA4628396	225	L>V		No	ClinGen ExAC gnomAD
rs754559195 CA4628398	226	R>G		No	ClinGen ExAC gnomAD
rs1048178221 CA172036691	226	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1048178221 CA370307553	226	R>T		No	gnomAD ClinGen
CA370307559 rs1298931977	227	A>S		No	ClinGen gnomAD
rs530716989 CA4628400	229	K>N		No	ClinGen 1000Genomes ExAC gnomAD
rs201123937 CA4628401	230	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	1000Genomes ExAC gnomAD ClinGen NCI-TCGA
rs781748934 CA4628402	230	R>H		No	ExAC TOPMed gnomAD ClinGen
rs915071492 CA172036747	233	I>V		No	ClinGen TOPMed gnomAD
CA370307614 rs947836234	235	D>E		No	TOPMed gnomAD ClinGen
rs1485110354 CA370307612	235	D>V		No	gnomAD ClinGen
CA370307618 rs1257574388	236	T>S		No	ClinGen TOPMed
rs746256215 CA4628404	237	R>*		No	ClinGen ExAC TOPMed gnomAD
CA370307622 rs770330343	237	R>P		No	ClinGen ExAC gnomAD
rs770330343 CA4628405	237	R>Q		No	ClinGen ExAC gnomAD
CA370307627 rs749590205	238	S>F		No	ClinGen ExAC TOPMed gnomAD
rs780534736 CA4628406	238	S>T		No	ClinGen ExAC gnomAD
rs749590205 CA4628407	238	S>Y		No	ExAC TOPMed gnomAD ClinGen
rs374898338 CA4628410	239	L>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA gnomAD
rs374898338 CA4628409	239	L>Q		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs772029716 CA4628411	240	N>I		No	ExAC TOPMed gnomAD ClinGen
rs1362599024 CA370307638	241	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs766206280 CA4628414	244	Q>E		No	ExAC gnomAD ClinGen
rs753575165 CA4628415	245	T>A		No	ExAC gnomAD ClinGen
CA370307668 rs1563276124	245	T>S		No	Ensembl ClinGen
CA172036785 rs1003182964	247	A>T		No	ClinGen TOPMed
rs1388317721 CA370307688	248	K>N		No	ClinGen gnomAD
TCGA novel	250	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1301034265 CA370307708	252	F>I		No	ClinGen gnomAD
CA172036792 rs1057506434	253	E>Q		No	TOPMed ClinGen
CA370307729 rs1346879833	254	Q>H		No	gnomAD ClinGen
CA4628416 rs141094130	256	A>P		No	ESP ExAC TOPMed gnomAD ClinGen
rs994418463 CA172036808	257	H>Q		No	TOPMed gnomAD ClinGen
CA4628417 rs768981219	257	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
CA4628418 rs752279678	259	P>L		No	ExAC TOPMed gnomAD ClinGen
CA370307762 rs752279678	259	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1453600103 CA370307760	259	P>T		No	ClinGen TOPMed
CA370307765 rs1159187751	260	Q>*		No	TOPMed ClinGen
rs757929934 CA4628419	261	W>C		No	ExAC gnomAD ClinGen
rs777398530 CA4628420	262	R>S		No	ExAC gnomAD ClinGen
rs751005436 COSM3698779 CA370307785	263	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs751005436 CA4628421	263	R>G		No	ExAC gnomAD ClinGen
rs756683891 CA4628422	263	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4628424 rs749558020	264	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs150284036 CA4628426	265	H>L		No	ESP ExAC gnomAD ClinGen
rs150284036 CA4628427	265	H>R		No	ClinGen ESP ExAC gnomAD
CA4628425 rs535050351	265	H>Y		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs117897462 CA370307800	266	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4628428 rs117897462	266	K>Q		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA4628430 rs773247713	268	I>L		No	ClinGen ExAC TOPMed gnomAD
CA4628429 rs773247713	268	I>V		No	ClinGen ExAC TOPMed gnomAD
CA4628464 rs765590777	271	Y>C		No	ClinGen ExAC gnomAD
rs758636349 CA4628466	272	H>Q		No	ClinGen ExAC gnomAD
rs753050669 CA4628465	272	H>Y		No	ExAC gnomAD ClinGen
CA370299644 rs1391534913	273	I>S		No	TOPMed ClinGen
rs865949990 CA370299658	274	L>F		No	ClinGen Ensembl
CA171972778 rs865949990	274	L>V		No	Ensembl ClinGen
rs747111239 CA4628468	276	E>A		No	ExAC ClinGen
rs898312398 CA171972782	277	S>N		No	TOPMed ClinGen
CA370299711 rs898312398	277	S>T		No	TOPMed ClinGen
CA4628470 rs781299600	280	K>E		No	ClinGen ExAC gnomAD
CA4628471 rs745857710	281	L>V		No	ExAC gnomAD ClinGen
CA370299812 rs1337864647	282	V>A		No	ClinGen TOPMed gnomAD
rs1350385978 CA370299856	284	A>V		No	ClinGen TOPMed gnomAD
rs1412450426 CA370299863	285	C>R		No	ClinGen TOPMed
rs531387717 CA171972799	285	C>Y		No	gnomAD ClinGen
CA4628473 rs779725761	287	D>V		No	ClinGen ExAC gnomAD
rs202212166 CA171972804	288	Q>E		No	ClinGen 1000Genomes
rs1240216553 CA370299931	288	Q>H		No	gnomAD ClinGen
rs1195253238 CA370299924	288	Q>R		No	gnomAD ClinGen
CA4628474 rs749025752	289	T>I		No	ClinGen ExAC gnomAD
CA171972819 rs755051440	290	H>Q		No	Ensembl ClinGen
CA4628475 rs768454175	290	H>R		No	ExAC TOPMed gnomAD ClinGen
rs774100465 CA4628476	292	M>V		No	ClinGen ExAC gnomAD
CA4628478 CA4628477 rs149393678	293	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1454117 CA370300032 rs1192252942	294	R>*	pancreas large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	TOPMed ClinGen cosmic curated NCI-TCGA
rs772776398 CA370300037	294	R>P		No	ExAC TOPMed gnomAD ClinGen
rs772776398 CA4628479	294	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs147515504 CA4628480	295	W>L		No	ESP ExAC TOPMed gnomAD ClinGen
CA370300044 rs1360625894	295	W>R		No	ClinGen gnomAD
CA171972826 rs897857640	296	L>I		No	ClinGen Ensembl
rs897857640 CA171972827	296	L>V		No	ClinGen Ensembl
rs577243584 CA370300134	300	E>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4628482 rs577243584	300	E>Q		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs994787774 CA171972833	301	A>D		No	TOPMed ClinGen
CA4628483 rs763250923	301	A>T		No	ExAC TOPMed gnomAD ClinGen
CA171972835 rs994787774	301	A>V		No	ClinGen TOPMed
CA370300167 rs1373644315	302	S>C		No	ClinGen TOPMed gnomAD
rs1373644315 CA370300169	302	S>F		No	TOPMed gnomAD ClinGen
rs764417303 CA4628484	303	N>D		No	ClinGen ExAC gnomAD
CA370300175 rs764417303	303	N>H		No	ClinGen ExAC gnomAD
CA4628485 rs200081429	303	N>S		No	ESP ExAC TOPMed gnomAD ClinGen
CA370300220 rs1354507411	306	T>A		No	ClinGen gnomAD
rs1206932138 CA370300230	306	T>S		No	ClinGen gnomAD
TCGA novel	307	H>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370300239 rs1301794672	307	H>L		No	TOPMed ClinGen
CA4628486 rs757495330	307	H>N		No	ExAC TOPMed gnomAD ClinGen
rs757495330 CA370300234	307	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA4628487 rs201358574	308	I>V		No	ExAC TOPMed gnomAD ClinGen
CA370300313 rs35927540	312	L>V		No	ESP ExAC TOPMed gnomAD ClinGen
CA4628489 rs756009598	313	T>A		No	ClinGen ExAC gnomAD
CA171972858 rs1007730276	313	T>I		No	Ensembl ClinGen
rs756009598 CA370300326	313	T>S		No	ExAC gnomAD ClinGen
rs780101177 CA4628490	314	T>A		No	ExAC TOPMed gnomAD ClinGen
rs749118812 CA4628491	314	T>I		No	ClinGen ExAC gnomAD
rs780101177 CA370300335	314	T>P		No	ClinGen ExAC TOPMed gnomAD
CA370300336 rs780101177	314	T>S		No	ClinGen ExAC TOPMed gnomAD
CA4628492 rs143930079	315	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA370300370 rs1393939975	316	C>F		No	TOPMed ClinGen
rs747824920 CA4628494	318	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	320	Q>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4628497 rs760169618	321	C>G		No	ClinGen ExAC TOPMed gnomAD
CA370300446 rs760169618	321	C>R		No	ExAC TOPMed gnomAD ClinGen
rs1439075823 CA370300451	321	C>Y		No	gnomAD ClinGen
CA370300463 rs1391785593	322	I>F		No	ClinGen TOPMed
rs770221085 CA4628498	322	I>M		No	ExAC gnomAD ClinGen
rs1241422310 CA370300494	323	D>E		No	ClinGen TOPMed gnomAD
rs966585738 CA171972892	323	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
CA370301794 rs1460798259	326	G>R		No	ClinGen TOPMed
rs1485050502 CA370301803	326	G>V		No	ClinGen gnomAD
CA4628538 rs774872888	327	A>T		No	ClinGen ExAC gnomAD
rs748581857 CA4628539	327	A>V		No	ExAC ClinGen
CA4628540 rs541732067	329	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4628541 rs773447348	330	L>M		No	ClinGen ExAC gnomAD
rs761037701 CA4628542	331	I>T		No	ExAC gnomAD ClinGen
TCGA novel	332	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4628544 rs776858644	333	G>E		No	ClinGen ExAC gnomAD
rs1313399159 CA370301916	335	E>D		No	ClinGen gnomAD
CA4628545 rs759652693	335	E>G		No	ClinGen ExAC gnomAD
CA370301925 rs1434113575	337	T>A		No	ClinGen gnomAD
CA4628546 rs765380671	337	T>N		No	ClinGen ExAC TOPMed gnomAD
rs563581834 CA4628547	339	S>C		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs563581834 CA4628548	339	S>F		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA370301940 rs1241716542	339	S>P		No	TOPMed ClinGen
CA370301941 rs563581834	339	S>Y		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs1006339232 CA171977853	341	L>F		No	ClinGen TOPMed
CA4628553 rs749958745	342	Q>L		No	ExAC TOPMed gnomAD ClinGen
CA4628554 rs147925709	343	V>M		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA370301969 rs1215823811	344	T>S		No	ClinGen gnomAD
CA370301974 rs748758553	345	S>C		No	ExAC gnomAD ClinGen
rs748758553 CA4628556	345	S>F		No	ExAC gnomAD ClinGen
CA370301986 rs142274636	347	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs772446659 CA4628557	347	A>S		No	ClinGen ExAC TOPMed
CA4628558 rs142274636	347	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370651614 CA171977931	348	Q>E		No	ESP ClinGen
CA370301990 rs1454938451	348	Q>R		No	ClinGen gnomAD
rs150577824 CA171977936	350	I>V		No	ESP TOPMed ClinGen
rs1393462830 CA370302018	352	E>G		No	ClinGen gnomAD
CA4628559 rs747313233	353	P>A		No	ClinGen ExAC gnomAD
rs547174590 CA4628561	354	R>G		No	1000Genomes ExAC gnomAD ClinGen
rs1451628304 CA370302040	355	S>R		No	ClinGen gnomAD
rs769980338 CA4628563	357	T>S		No	ClinGen ExAC gnomAD
CA4628564 rs775415715	358	I>V		No	ClinGen ExAC gnomAD
COSM1095013 rs141801830 CA4628565	359	R>C	Variant assessed as Somatic; 9.24e-05 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA4628566 rs141801830	359	R>G		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA4628569 rs139630635	359	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139630635 CA4628570	359	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139630635 RCV000883939 CA4628568	359	R>P		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4628567 rs141801830	359	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4628572 rs779674281	360	G>V		No	ClinGen ExAC gnomAD
rs1193393277 CA370302082	363	A>S		No	TOPMed ClinGen
rs1214297516 CA370302084	363	A>V		No	ClinGen TOPMed gnomAD
rs753231515 CA4628573	364	L>Q		No	ExAC gnomAD ClinGen
rs1267984514 CA370302087	364	L>V		No	ClinGen gnomAD
rs758951615 CA4628575	366	E>A		No	ExAC TOPMed gnomAD ClinGen
CA370302100 rs758951615	366	E>G		No	ExAC TOPMed gnomAD ClinGen
CA4628576 rs764390122	367	R>G		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	368	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs143346877 CA4628577	370	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA370302132 rs1585130019	371	Q>E		No	ClinGen Ensembl
rs1585131473 CA370302153	372	A>G		No	Ensembl ClinGen
CA4628603 rs748149884	372	A>T		No	ClinGen ExAC gnomAD
CA4628605 rs773002474	373	G>S		No	ExAC TOPMed ClinGen
rs140280224 CA4628607	374	H>Q		No	ESP ExAC TOPMed gnomAD ClinGen
CA4628606 rs760336213	374	H>R		No	ClinGen ExAC gnomAD
CA370302163 rs1188102897	374	H>Y		No	ClinGen TOPMed gnomAD
rs776183013 CA4628608	375	P>A		No	ClinGen ExAC gnomAD
CA171979723 rs1004686653	376	F>L		No	ClinGen Ensembl
CA171979738 rs766011508	376	F>S		No	ClinGen Ensembl
rs1376757053 CA370302184	377	Q>H		No	TOPMed gnomAD ClinGen
rs750607253 COSM1725667 CA4628609	379	R>C	liver [Cosmic]	No	ExAC gnomAD ClinGen cosmic curated
rs760817821 CA4628610	379	R>H		No	ExAC gnomAD ClinGen
CA370302202 rs752190722	380	C>F		No	ClinGen ExAC gnomAD
CA370302199 rs1340340985	380	C>R		No	gnomAD ClinGen
CA4628611 rs752190722	380	C>S		No	ExAC gnomAD ClinGen
CA171979749 rs766410348	381	A>E		No	ExAC gnomAD ClinGen
CA4628612 rs766410348	381	A>V		No	ExAC gnomAD ClinGen
rs17851952 CA171979759	382	Q>L		No	ClinGen TOPMed
CA370302212 rs17851952	382	Q>P		No	ClinGen TOPMed
CA370302213 rs17851952	382	Q>R		No	ClinGen TOPMed
CA370302221 rs1177959648	383	S>L		No	ClinGen TOPMed
CA4628615 rs200395697	385	Y>C		No	1000Genomes ExAC gnomAD ClinGen
rs753928498 CA4628614	385	Y>N		No	ExAC TOPMed gnomAD ClinGen
CA4628616 rs200395697	385	Y>S		No	1000Genomes ExAC gnomAD ClinGen
CA370302237 rs1277978743	386	C>Y		No	gnomAD ClinGen
rs958517778 CA171979770	387	N>D		No	ClinGen TOPMed
CA370302254 rs1447552165	388	T>I		No	ClinGen TOPMed gnomAD
TCGA novel	390	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755223178 CA4628618	395	P>S		No	ExAC gnomAD ClinGen
rs778967331 CA4628619	396	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1452054196 CA370302347	402	D>N		No	ClinGen gnomAD
rs1452054196 CA370302349	402	D>Y		No	ClinGen gnomAD
CA370302358 rs1171535285	403	C>Y		No	ClinGen gnomAD
CA4628622 rs773090402	404	V>M		No	ClinGen ExAC TOPMed gnomAD
rs746929509 CA4628623	406	Q>H		No	ExAC TOPMed gnomAD ClinGen
CA370302380 rs1320784981	406	Q>P		No	gnomAD ClinGen
CA4628624 rs770676864	408	L>V		No	ExAC gnomAD ClinGen
CA4628625 COSM1095015 rs776485415	409	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs759119470 CA4628626	409	R>H		No	ExAC TOPMed gnomAD ClinGen
CA4628627 rs759119470	409	R>L		No	ClinGen ExAC TOPMed gnomAD
CA370302400 rs144892652	410	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA4628629 rs144892652	410	Q>E		No	ESP ExAC TOPMed gnomAD ClinGen
CA171979874 rs988956695	411	F>I		No	ClinGen Ensembl
rs1351474177 CA370302417	412	P>R		No	gnomAD ClinGen
COSM1551294 CA370302422 rs149021500	413	C>F	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs149021500 CA4628630	413	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs940735241 CA171979916	413	C>W		No	ClinGen TOPMed gnomAD
CA4628631 rs149021500	413	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA370302428 rs1450654166	414	S>C		No	Ensembl ClinGen
CA370302434 rs1464298108	415	F>S		No	gnomAD ClinGen
rs1457180277 CA370302469	419	E>D		No	ClinGen TOPMed
CA4628633 rs766720136	420	N>K		No	ClinGen ExAC gnomAD
rs1344052738 CA370302485	422	L>I		No	ClinGen TOPMed
CA171979928 rs755203622	423	I>F		No	ExAC TOPMed gnomAD ClinGen
CA370302491 rs755203622	423	I>L		No	ClinGen ExAC TOPMed gnomAD
CA4628635 rs755203622	423	I>V		No	ClinGen ExAC TOPMed gnomAD
rs143033220 CA4628637	424	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs779055410 CA4628636 COSM1187494	424	M>V	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA4628638 rs758510342	425	L>F		No	ClinGen ExAC gnomAD
CA4628639 rs758510342	425	L>V		No	ExAC gnomAD ClinGen
CA370302514 rs1444955728	426	F>L		No	ClinGen TOPMed
rs1044004612 CA171979980	428	H>R		No	ClinGen TOPMed gnomAD
CA4628643 rs745629368	429	A>G		No	ExAC TOPMed gnomAD ClinGen
rs780866136 CA4628642	429	A>S		No	ExAC gnomAD ClinGen
rs532824326 CA4628645	430	Y>*		No	1000Genomes ExAC gnomAD ClinGen
CA370302544 rs1336428499	431	A>S		No	gnomAD ClinGen
TCGA novel	431	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768339769 CA4628647	432	S>A		No	ClinGen ExAC TOPMed gnomAD
CA4628648 rs773907957	433	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1328455047 CA370302557	433	Q>R		No	ClinGen gnomAD
rs1274881091 CA370302566	434	F>L		No	ClinGen gnomAD
rs1353926296 CA370302572	435	G>A		No	ClinGen gnomAD
rs1563283636 CA370302577	436	T>I		No	ClinGen Ensembl
rs1439069817 CA370302596	439	G>D		No	ClinGen gnomAD
CA370302613 rs1385350289	441	N>K		No	ClinGen TOPMed
rs754174760 CA4628651	441	N>S		No	ClinGen ExAC gnomAD
rs938578315 CA171980036	442	E>G		No	ClinGen Ensembl
CA171980037 rs931875520	443	S>G		No	ClinGen TOPMed
CA370302634 rs1341370137	444	E>D		No	Ensembl ClinGen
CA4628674 rs140628884	447	K>E		No	ESP ExAC gnomAD ClinGen
rs1327970825 CA370302686	450	L>V		No	TOPMed gnomAD ClinGen
CA370302691 rs1296327242	451	Q>*		No	ClinGen gnomAD
CA370302715 rs1348011846	454	T>A		No	gnomAD ClinGen
CA4628676 rs751624412 COSM1215716	454	T>M	large_intestine [Cosmic]	No	ExAC gnomAD ClinGen cosmic curated
rs1278338218 CA370302733	456	S>F		No	gnomAD ClinGen
rs1218583606 CA370302749	458	W>*		No	TOPMed ClinGen
CA4628680 rs756117483	460	W>C		No	ClinGen ExAC gnomAD
CA4628679 rs750444289	460	W>G		No	ClinGen ExAC gnomAD
CA171982859 rs528544949	460	W>S		No	1000Genomes TOPMed gnomAD ClinGen
rs1389730924 CA370302766	461	V>A		No	ClinGen gnomAD
CA370302787 rs147083766	464	P>H		No	ESP ExAC TOPMed gnomAD ClinGen
rs147083766 CA4628682	464	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs147083766 CA4628681	464	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA370302784 rs1454858994	464	P>T		No	TOPMed gnomAD ClinGen
rs754607907 CA4628683	465	S>C		No	ExAC gnomAD ClinGen
rs1465537884 CA370302790	465	S>N		No	gnomAD ClinGen
rs1289314485 CA370302795	466	E>K		No	gnomAD ClinGen
CA370302819 rs1294764847	469	K>I		No	ClinGen TOPMed
rs778586337 CA4628684	470	F>I		No	ExAC gnomAD ClinGen
CA4628686 rs372670254	471	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
VAR_082147	472	N>I	found in a patient with global developmental delay, spasticity and epilepsy; unknown pathological significance [UniProt]	No	UniProt
rs377054169 CA4628687	472	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs746437144 CA4628688	473	P>T		No	ClinGen ExAC gnomAD
rs770231074 CA4628689	474	L>F		No	ExAC gnomAD ClinGen
rs1289326218 CA370302861	476	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA370302872 rs1207281756	477	A>G		No	ClinGen gnomAD
CA4628691 rs763265634	477	A>T		No	ClinGen ExAC TOPMed gnomAD
CA4628694 rs761930022	478	N>K		No	ExAC gnomAD ClinGen
CA4628693 rs774684717	478	N>S		No	ExAC TOPMed gnomAD ClinGen
CA4628695 rs562281134	479	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs370159796 CA171982976	480	L>V		No	ClinGen ESP TOPMed
rs1264063018 CA370302928	486	V>F		No	ClinGen TOPMed gnomAD
rs1264063018 CA370302926	486	V>I		No	ClinGen TOPMed gnomAD
rs1455553752 CA370302934	487	A>S		No	ClinGen gnomAD
CA171982983 rs942072686	487	A>V		No	ClinGen TOPMed gnomAD
COSM1673760 rs754839909 CA4628701	488	P>A	ovary [Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated
rs201540666 CA171982989	488	P>L		No	ClinGen 1000Genomes TOPMed gnomAD
rs754839909 CA4628700	488	P>S		No	ClinGen ExAC TOPMed gnomAD
CA4628703 rs757979523	489	Q>H		No	ExAC TOPMed gnomAD ClinGen
CA370302948 rs1391417229	490	S>C		No	ClinGen gnomAD
rs1212461915 CA370302950	490	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed ClinGen NCI-TCGA
rs34522197 CA171983007	493	L>V		No	ClinGen Ensembl
rs746478033 CA4628705	495	E>G		No	ExAC gnomAD ClinGen
rs372683194 CA171985761	497	I>V		No	ESP TOPMed gnomAD ClinGen
CA4628752 rs776782745	499	L>V		No	ClinGen ExAC TOPMed gnomAD
rs147259411 CA4628753	500	R>C		No	ESP ExAC TOPMed gnomAD ClinGen
CA370303025 rs147259411	500	R>G		No	ESP ExAC TOPMed gnomAD ClinGen
rs375789918 CA4628754	500	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs375789918 CA4628755	500	R>L		No	ESP ExAC TOPMed gnomAD ClinGen
CA370303041 rs1456005496	502	N>K		No	TOPMed ClinGen
CA4628757 rs138813559	502	N>S		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs774067647 CA4628758	503	R>S		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	503	R>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761468777 CA4628759	504	S>F		No	ClinGen ExAC TOPMed gnomAD
CA370303052 rs761468777	504	S>Y		No	ExAC TOPMed gnomAD ClinGen
CA171985810 rs181568173	505	S>F		No	1000Genomes ClinGen
TCGA novel	506	K>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4628760 rs767108354	507	Y>C		No	ClinGen ExAC gnomAD
rs1365102783 CA370303069	507	Y>D		No	TOPMed ClinGen
CA370303080 rs1390968193	508	L>F		No	TOPMed gnomAD ClinGen
CA4628761 rs749979124	509	D>G		No	ExAC gnomAD ClinGen
CA370303092 rs1166865019	510	E>G		No	gnomAD ClinGen
CA171985851 rs913217203	512	Y>C		No	Ensembl ClinGen
rs561031954 CA171985852	515	M>T		No	1000Genomes ClinGen
CA370303152 rs765889359	518	I>M		No	ExAC gnomAD ClinGen
CA4628762 rs755618997	518	I>T		No	ExAC gnomAD ClinGen
rs1389616718 CA370303148	518	I>V		No	ClinGen gnomAD
CA370303155 rs1395186411	519	I>N		No	ClinGen TOPMed gnomAD
CA370303156 rs1395186411	519	I>T		No	TOPMed gnomAD ClinGen
CA4628764 rs576428335	519	I>V		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs778282298 CA4628766	521	Y>C		No	ExAC TOPMed gnomAD ClinGen
rs758966818 CA4628765	521	Y>N		No	ClinGen ExAC gnomAD
CA370303177 rs1585138726	522	N>S		No	Ensembl ClinGen
CA4628768 rs757588602	524	E>D		No	ExAC TOPMed gnomAD ClinGen
rs781313102 CA4628769	527	A>G		No	ClinGen ExAC gnomAD
rs746082701 CA4628770	528	K>E		No	ExAC gnomAD ClinGen
rs1282446851 CA370303229	530	N>H		No	TOPMed ClinGen
rs543380653 CA370303233	530	N>I		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs543380653 CA4628771	530	N>S		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs749228347 CA4628773	531	I>N		No	ClinGen ExAC gnomAD
rs149341135 CA4628772	531	I>V		No	ESP ExAC TOPMed gnomAD ClinGen
CA171985933 rs914500923	532	L>F		No	ClinGen TOPMed gnomAD
CA4628774 rs768525490	532	L>P		No	ClinGen ExAC gnomAD
COSM1095019 rs565171854 CA370303246	533	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
CA4628776 rs761554983	533	R>L		No	ClinGen ExAC TOPMed gnomAD
COSM453871 rs761554983 CA171985946	533	R>Q	Variant assessed as Somatic; impact. endometrium breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs772789296 CA4628778	534	R>S		No	ClinGen ExAC gnomAD
CA370303255 rs144691111	535	Q>*		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA4628779 rs144691111	535	Q>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4628780 rs765869221	535	Q>H		No	ExAC TOPMed gnomAD ClinGen
CA370303267 rs753328388	537	A>P		No	ExAC TOPMed gnomAD ClinGen
CA4628781 rs753328388	537	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs758985229 CA171986009	540	E>A		No	ExAC TOPMed gnomAD ClinGen
rs758985229 CA4628782	540	E>G		No	ClinGen ExAC TOPMed gnomAD
CA171986025 rs200855884	541	T>A		No	ClinGen 1000Genomes
rs937149912 CA171986035	541	T>I		No	ClinGen TOPMed gnomAD
TCGA novel	541	T>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370303294 rs937149912	541	T>R		No	ClinGen TOPMed gnomAD
CA4628784 rs764644468	542	E>*		No	ClinGen ExAC gnomAD
rs757748044 CA4628785	542	E>G		No	ExAC gnomAD ClinGen
rs764644468 CA4628783	542	E>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA171986055 rs896890040	543	D>G		No	TOPMed gnomAD ClinGen
rs896890040 CA370303303	543	D>V		No	ClinGen TOPMed gnomAD
rs781612159 CA4628786	543	D>Y		No	ExAC gnomAD ClinGen
rs756293842 CA4628788	544	G>R		No	ClinGen ExAC gnomAD
TCGA novel	544	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4628789 rs780011800	545	M>I		No	ClinGen ExAC gnomAD
rs1331589105 CA370303315	545	M>R		No	gnomAD ClinGen
CA370303326 rs749318422	546	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA370303322 rs1241239904	546	Q>P		No	TOPMed ClinGen
TCGA novel	546	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV000880618 CA4628791 rs74800008	547	E>D		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1488914887 CA370303329	547	E>Q		No	gnomAD ClinGen
rs530093140 CA4628792	548	S>N		No	ClinGen 1000Genomes ExAC gnomAD
rs267601726 CA171986090	549	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed ClinGen NCI-TCGA
TCGA novel	550	P>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with Q96QG7

1 regional properties for Q96QG7

Type	Name	Position	InterPro Accession
domain	Myotubularin-like, phosphatase domain	108 - 498	IPR010569

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Cell projection, ruffle membrane ; Peripheral membrane protein ; Cytoplasmic side Cytoplasm, perinuclear region Endoplasmic reticulum	Localizes to ruffles during EGF-induced macropinocytosis (By similarity) Colocalizes with MTMR6 to the perinuclear region (PubMed:19038970) Partially localizes to the endoplasmic reticulum (PubMed:19038970)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
endoplasmic reticulum	The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.
protein-containing complex	A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.
ruffle membrane	The portion of the plasma membrane surrounding a ruffle.

3 GO annotations of molecular function

Name	Definition
enzyme regulator activity	Binds to and modulates the activity of an enzyme.
phosphatidylinositol-3-phosphatase activity	Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 3-phosphate + H2O = 1-phosphatidyl-1D-myo-inositol + phosphate.
protein phosphatase binding	Binding to a protein phosphatase.

6 GO annotations of biological process

Name	Definition
endocytosis	A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle.
negative regulation of autophagy	Any process that stops, prevents, or reduces the frequency, rate or extent of autophagy. Autophagy is the process in which cells digest parts of their own cytoplasm.
phosphatidylinositol dephosphorylation	The process of removing one or more phosphate groups from a phosphatidylinositol.
positive regulation of phosphatase activity	Any process that increases the rate or frequency of phosphatase activity. Phosphatases catalyze the hydrolysis of phosphoric monoesters, releasing inorganic phosphate.
protein stabilization	Any process involved in maintaining the structure and integrity of a protein and preventing it from degradation or aggregation.
regulation of phosphatidylinositol dephosphorylation	Any process that modulates the frequency, rate or extent of the chemical reaction involving the removal of one or more phosphate groups from a phosphatidylinositol.

10 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q5F452	MTMR8	Myotubularin-related protein 8	Gallus gallus (Chicken)	PR
Q86WG5	SBF2	Myotubularin-related protein 13	Homo sapiens (Human)	PR
O95248	SBF1	Myotubularin-related protein 5	Homo sapiens (Human)	PR
Q13613	MTMR1	Myotubularin-related protein 1	Homo sapiens (Human)	PR
Q13496	MTM1	Myotubularin	Homo sapiens (Human)	PR
Q13614	MTMR2	Myotubularin-related protein 2	Homo sapiens (Human)	PR
Q9Y217	MTMR6	Myotubularin-related protein 6	Homo sapiens (Human)	PR
Q9Y216	MTMR7	Myotubularin-related protein 7	Homo sapiens (Human)	PR
Q9Z2C9	Mtmr7	Myotubularin-related protein 7	Mus musculus (Mouse)	PR
A2BGG1	mtmr12	Myotubularin-related protein 12	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MEFAELIKTP	RVDNVVLHRP	FYPAVEGTLC	LTGHHLILSS	RQDNTEELWL	LHSNIDAIDK
70	80	90	100	110	120
RFVGSLGTII	IKCKDFRIIQ	LDIPGMEECL	NIASSIEALS	TLDSITLMYP	FFYRPMFEVI
130	140	150	160	170	180
EDGWHSFLPE	QEFELYSSAT	SEWRLSYVNK	EFAVCPSYPP	IVTVPKSIDD	EALRKVATFR
190	200	210	220	230	240
HGGRFPVLSY	YHKKNGMVIM	RSGQPLTGTN	GRRCKEDEKL	INATLRAGKR	GYIIDTRSLN
250	260	270	280	290	300
VAQQTRAKGG	GFEQEAHYPQ	WRRIHKSIER	YHILQESLIK	LVEACNDQTH	NMDRWLSKLE
310	320	330	340	350	360
ASNWLTHIKE	ILTTACLAAQ	CIDREGASIL	IHGTEGTDST	LQVTSLAQII	LEPRSRTIRG
370	380	390	400	410	420
FEALIEREWL	QAGHPFQQRC	AQSAYCNTKQ	KWEAPVFLLF	LDCVWQILRQ	FPCSFEFNEN
430	440	450	460	470	480
FLIMLFEHAY	ASQFGTFLGN	NESERCKLKL	QQKTMSLWSW	VNQPSELSKF	TNPLFEANNL
490	500	510	520	530	540
VIWPSVAPQS	LPLWEGIFLR	WNRSSKYLDE	AYEEMVNIIE	YNKELQAKVN	ILRRQLAELE

TEDGMQESP