AiPD: Autoinhibited Protein Database

Q96NN9

Gene name	AIFM3 (AIFL)
Protein name	Apoptosis-inducing factor 3
Names	Apoptosis-inducing factor-like protein
Species	Homo sapiens (Human)
KEGG Pathway	hsa:150209
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

143-217 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

143-217 (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

7 structures for Q96NN9

Entry ID	Method	Resolution	Chain	Position	Source
5O9V	X-ray	220 A	C/D	2-9	PDB
6QRM	X-ray	230 A	C/D	2-11	PDB
6SJZ	X-ray	200 A	E/F	2-9	PDB
6SK3	X-ray	270 A	C/D	2-9	PDB
6SK8	X-ray	187 A	C/D	2-9	PDB
6SKJ	X-ray	280 A	C/D	2-9	PDB
AF-Q96NN9-F1	Predicted				AlphaFoldDB

548 variants for Q96NN9

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA10117484 rs746707375	2	G>D		No	ClinGen ExAC gnomAD
rs780734241 CA410767961	3	G>R		No	ClinGen ExAC TOPMed gnomAD
rs780734241 CA10117486	3	G>S		No	ClinGen ExAC TOPMed gnomAD
CA10117487 rs146335337	4	C>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs566902132 CA10117489	5	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA410767985 rs1221477124	6	S>F		No	ClinGen gnomAD
rs1386703173 CA410767999	8	P>L		No	ClinGen TOPMed
rs1279914135 CA410767996	8	P>S		No	ClinGen gnomAD
rs748513370 CA10117513	16	E>K		No	ClinGen ExAC gnomAD
CA10117512 rs748513370	16	E>Q		No	ClinGen ExAC gnomAD
CA410768106 rs1275977451	18	V>M		No	ClinGen gnomAD
rs1357957719 CA410768133	22	K>*		No	ClinGen gnomAD
CA10117515 rs569194029	24	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA10117516 rs771203303	24	R>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	27	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA410768174 rs1441375131 COSM1032399	28	E>K	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA10117519 rs373088207	30	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1192965626 CA410768192	31	A>T		No	ClinGen gnomAD
CA10117521 rs751345866	32	S>C		No	ClinGen ExAC gnomAD
rs1054154310 CA322303589	32	S>R		No	ClinGen Ensembl
CA322303592 rs907159717	35	G>C		No	ClinGen Ensembl
TCGA novel	35	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	36	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA410768226 rs1164221596	36	S>I		No	ClinGen gnomAD
rs1413586933 CA410768229	37	P>T		No	ClinGen gnomAD
TCGA novel	38	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA322303599 rs557305212	38	R>Q		No	ClinGen 1000Genomes TOPMed gnomAD
rs376327467 CA10117523	38	R>W		No	ClinGen ESP ExAC TOPMed
CA410768239 rs1161046278	39	A>T		No	ClinGen gnomAD
rs1446452843 CA410768253	41	Q>K		No	ClinGen TOPMed
rs370994357 CA322303617	42	G>D		No	ClinGen ESP TOPMed
rs767173371 CA10117524	45	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs755756712 CA10117526	47	R>C		No	ClinGen ExAC TOPMed gnomAD
CA410768292 rs779484199	47	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs779484199 CA10117527	47	R>L		No	ClinGen ExAC TOPMed gnomAD
CA10117529 rs373462664	51	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs373462664 CA10117530 COSM1032400	51	T>M	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs753362705 CA10117528	51	T>P		No	ClinGen ExAC TOPMed gnomAD
rs772505763 CA10117532	53	E>*		No	ClinGen ExAC TOPMed gnomAD
rs142848384 CA10117534	54	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs142848384 CA10117533	54	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA10117535 COSM1032401 rs771256400	54	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs771256400 CA410768338	54	R>L		No	ClinGen ExAC TOPMed gnomAD
CA410768339 rs1259685354	55	L>M		No	ClinGen TOPMed gnomAD
CA10117537 rs776614501	57	T>S		No	ClinGen ExAC gnomAD
CA410768365 rs1601703231	59	H>R		No	ClinGen Ensembl
CA410768379 rs1569147276	61	Y>C		No	ClinGen Ensembl
rs1443233285 CA410768375	61	Y>N		No	ClinGen gnomAD
CA410768388 rs1480279448	62	P>R		No	ClinGen TOPMed
CA410768394 rs1180840196	63	S>I		No	ClinGen gnomAD
CA10117538 rs759624464	64	P>S		No	ClinGen ExAC TOPMed gnomAD
CA410768397 rs759624464	64	P>T		No	ClinGen ExAC TOPMed gnomAD
rs918369847 CA322303730	65	Q>*		No	ClinGen TOPMed
CA322303756 rs929486749	66	D>Y		No	ClinGen TOPMed gnomAD
rs1047023523 CA322303761	68	V>A		No	ClinGen TOPMed gnomAD
CA10117539 rs768504151	68	V>L		No	ClinGen ExAC TOPMed gnomAD
rs768504151 CA410768436	68	V>M		No	ClinGen ExAC TOPMed gnomAD
CA410768453 rs1414535450	69	E>G		No	ClinGen gnomAD
CA10117540 rs774288871	70	A>P		No	ClinGen ExAC gnomAD
CA10117541 rs761598054	71	A>T		No	ClinGen ExAC gnomAD
CA410768482 rs1237931021	72	V>A		No	ClinGen gnomAD
CA410768477 rs750202523	72	V>I		No	ClinGen ExAC gnomAD
CA10117543 rs750202523	72	V>L		No	ClinGen ExAC gnomAD
CA410768487 rs1257657037	73	C>R		No	ClinGen gnomAD
rs150622444 CA10117545	75	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA410768524 rs1278204753	76	K>*		No	ClinGen gnomAD
rs772444327 CA10117547	78	L>F		No	ClinGen ExAC TOPMed gnomAD
rs747347737 CA10117552	79	E>D		No	ClinGen ExAC TOPMed gnomAD
rs778331266 CA10117551	79	E>K		No	ClinGen ExAC gnomAD
rs1379862291 CA410768591	81	G>S		No	ClinGen TOPMed gnomAD
rs377274696 CA410768691	84	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA10117574 rs756274075	84	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA10117572 rs377274696	84	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1317449779 CA410768723	86	V>A		No	ClinGen TOPMed gnomAD
rs1225733251 CA410768744	88	L>M		No	ClinGen TOPMed gnomAD
CA410768746 rs1225733251	88	L>V		No	ClinGen TOPMed gnomAD
CA410768768 rs1483931170	90	W>G		No	ClinGen TOPMed
rs1267553294 CA410768776	90	W>L		No	ClinGen gnomAD
CA410768785 rs1357468674	91	G>R		No	ClinGen gnomAD
CA410768882 rs1222041341	98	D>A		No	ClinGen TOPMed
CA410768894 rs1489018325	99	N>S		No	ClinGen gnomAD
rs1262026634 CA410768917	101	E>*		No	ClinGen TOPMed gnomAD
CA410768915 rs1262026634	101	E>K		No	ClinGen TOPMed gnomAD
rs1286026861 CA410768933	102	F>L		No	ClinGen TOPMed
rs371361440 CA10117578	104	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA10117577 rs367600638	104	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA10117579 rs375928890	105	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs770691793 CA410768998	107	H>P		No	ClinGen ExAC TOPMed gnomAD
rs770691793 CA10117581	107	H>R		No	ClinGen ExAC TOPMed gnomAD
CA410769033 rs1298842237	109	C>Y		No	ClinGen gnomAD
CA10117582 rs776278563	110	P>L		No	ClinGen ExAC gnomAD
CA10117584 rs764765760	111	H>R		No	ClinGen ExAC TOPMed gnomAD
rs762507118 CA10117586	113	G>S		No	ClinGen ExAC TOPMed gnomAD
CA10117588 rs752047647	114	A>T		No	ClinGen ExAC gnomAD
rs1284635141 CA410769113	115	P>R		No	ClinGen gnomAD
CA410769126 rs1484588406	117	V>M		No	ClinGen gnomAD
rs542222592 CA10117604	119	G>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA10117605 rs768350092	120	V>I		No	ClinGen ExAC gnomAD
rs370362252 CA10117607	123	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370362252 CA10117608	123	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs538782836 CA10117609	123	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA322304508 rs538782836	123	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA410769238 rs538782836	123	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10117610 rs760897659	124	G>R		No	ClinGen ExAC gnomAD
rs753990478 CA410769253	125	R>G		No	ClinGen ExAC gnomAD
CA410769257 rs1466471433	125	R>P		No	ClinGen TOPMed gnomAD
rs1466471433 CA410769255	125	R>Q		No	ClinGen TOPMed gnomAD
rs753990478 CA10117612	125	R>W		No	ClinGen ExAC gnomAD
CA410769267 rs1214392294	126	V>M		No	ClinGen TOPMed
rs750564830 CA10117614	127	R>C		No	ClinGen ExAC TOPMed gnomAD
CA10117615 rs374048838	127	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs374048838 CA410769283	127	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs763410536 CA10117617	129	P>H		No	ClinGen ExAC TOPMed gnomAD
CA10117616 rs757250012	129	P>T		No	ClinGen ExAC gnomAD
CA322304530 rs981170318	130	W>*		No	ClinGen TOPMed
rs368820001 CA10117619	131	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs779994284 CA410769335	132	G>C		No	ClinGen ExAC TOPMed gnomAD
rs779994284 CA10117620	132	G>S		No	ClinGen ExAC TOPMed gnomAD
rs768398726 CA10117622	133	A>T		No	ClinGen ExAC gnomAD
rs555769378 CA322304558	134	C>S		No	ClinGen Ensembl
rs1323253205 CA410769452	141	D>N		No	ClinGen gnomAD
rs1051028537 CA322304564	142	L>P		No	ClinGen Ensembl
CA10117624 rs201450835	147	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA410769563 rs1434470922	150	S>G		No	ClinGen gnomAD
rs575793889 CA10117625	150	S>N		No	ClinGen 1000Genomes ExAC gnomAD
CA410769593 rs1417880133	152	H>R		No	ClinGen gnomAD
CA410769590 rs1167528603	152	H>Y		No	ClinGen gnomAD
TCGA novel	155	Q>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1365428586 CA410769638	155	Q>R		No	ClinGen TOPMed gnomAD
rs749056585 CA10117640	158	I>T		No	ClinGen ExAC gnomAD
CA410769724 rs1399601367	159	E>K		No	ClinGen TOPMed gnomAD
CA410769768 rs1360461913	161	E>D		No	ClinGen TOPMed gnomAD
rs1422972866 CA410769774	162	K>*		No	ClinGen TOPMed
CA10117642 rs778377418	163	V>A		No	ClinGen ExAC gnomAD
TCGA novel	165	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10117644 rs56179977	165	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA410769814 rs56179977	165	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs147613113 CA10117646	166	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10117645 rs541727355	166	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs771397968 CA410769833	167	A>D		No	ClinGen ExAC TOPMed gnomAD
rs1601704409 CA410769827	167	A>T		No	ClinGen Ensembl
CA10117647 rs771397968	167	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1444295715 CA410769853	168	S>R		No	ClinGen gnomAD
CA10117649 rs759848120	170	Q>E		No	ClinGen ExAC gnomAD
rs1321598859 CA410769936	171	A>T		No	ClinGen gnomAD
rs774600076 CA10117672	171	A>V		No	ClinGen ExAC gnomAD
rs1339118484 CA410769962	173	Q>*		No	ClinGen TOPMed gnomAD
CA410769960 rs1339118484	173	Q>E		No	ClinGen TOPMed gnomAD
CA10117674 rs766430143	173	Q>P		No	ClinGen ExAC gnomAD
CA410769983 rs1490372566	175	Q>*		No	ClinGen gnomAD
CA10117675 rs142117053	176	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA10117676 rs759511916	176	R>Q		No	ClinGen ExAC gnomAD
CA410770006 rs1478575465	177	R>K		No	ClinGen gnomAD
CA10117677 rs144287643	179	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA410770059 rs1460265817	181	M>R		No	ClinGen gnomAD
CA410770065 rs1164998942	182	A>T		No	ClinGen gnomAD
CA410770093 rs758018566	184	C>F		No	ClinGen ExAC TOPMed gnomAD
rs1425393285 CA410770089	184	C>R		No	ClinGen gnomAD
rs758018566 CA10117679	184	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs1402121333 CA410770128	187	P>L		No	ClinGen gnomAD
rs1326282794 CA410770152	190	G>R		No	ClinGen TOPMed gnomAD
rs1569148069 CA410770178	192	S>G		No	ClinGen Ensembl
CA410770185 rs1601704719	193	S>G		No	ClinGen Ensembl
CA410770237 rs1221134943	197	V>L		No	ClinGen gnomAD
rs1488971489 CA410770250	198	L>H		No	ClinGen gnomAD
CA410770263 rs1260602830	199	I>M		No	ClinGen TOPMed gnomAD
CA10117682 rs144284647	199	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10117684 rs151146728	203	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA410770332 rs1363472878	203	G>V		No	ClinGen gnomAD
CA10117701 rs779390732	205	A>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	208	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA410770374 COSM725524 rs1201901699	208	V>L	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
CA10117702 rs756615074	209	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA10117703 rs140062749	210	A>T		No	ClinGen ESP ExAC gnomAD
CA410770423 rs1452365418	212	T>R		No	ClinGen gnomAD
CA10117705 rs768996285	214	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs150271585 CA10117704	214	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1456126202 CA410770439	215	Q>*		No	ClinGen TOPMed gnomAD
CA10117706 rs779413799	216	E>G		No	ClinGen ExAC gnomAD
COSM117262 rs145844241 CA10117707	217	G>V	ovary [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
TCGA novel	218	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA410770508 rs760759626	221	R>L		No	ClinGen ExAC TOPMed gnomAD
CA10117710 rs760759626	221	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA10117709 rs370089581	221	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA410770527 rs1176520738	223	V>A		No	ClinGen gnomAD
CA410770525 rs1176520738	223	V>G		No	ClinGen gnomAD
rs202122018 COSM1032403 CA10117713	223	V>I	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1249971635 CA410770533	224	L>R		No	ClinGen gnomAD
COSM1182312 rs763938239 CA10117714	226	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs761497799 CA10117716	227	L>I		No	ClinGen ExAC TOPMed gnomAD
rs767120379 CA10117717	227	L>R		No	ClinGen ExAC gnomAD
CA10117719 rs755589476	229	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs140711648 CA10117718	229	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1189566206 CA410770594	230	H>Q		No	ClinGen TOPMed
CA10117722 rs575044944	233	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
rs748492260 CA10117724	234	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10117725 rs553803201	235	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA410770643 rs553803201	235	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10117726 rs777993611	235	R>H		No	ClinGen ExAC gnomAD
CA10117727 rs201527012	236	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1467321867 CA410770665	237	K>N		No	ClinGen gnomAD
CA10117728 rs771110770	238	L>F		No	ClinGen ExAC gnomAD
CA410770667 rs771110770	238	L>I		No	ClinGen ExAC gnomAD
CA410770675 rs1209245150	239	S>N		No	ClinGen TOPMed
rs747316102 CA10117745	241	S>P		No	ClinGen ExAC TOPMed gnomAD
CA10117746 rs757400878	245	Q>*		No	ClinGen ExAC gnomAD
rs781375502 CA10117747	245	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA410770838 rs1358895421	249	L>P		No	ClinGen gnomAD
CA10117751 rs747937672	251	L>P		No	ClinGen ExAC gnomAD
CA410770886 rs1457335169	254	K>R		No	ClinGen TOPMed
rs772867162 CA10117753	255	E>D		No	ClinGen ExAC gnomAD
TCGA novel	255	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1215296993 CA410770906	256	F>L		No	ClinGen gnomAD
CA10117755 rs770458193	257	F>L		No	ClinGen ExAC gnomAD
TCGA novel	257	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs920239039 CA322306281	257	F>Y		No	ClinGen Ensembl
COSM1714164 CA10117756 rs148304997	258	R>*	skin [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA410770936 rs986397770	258	R>L		No	ClinGen gnomAD
CA322306287 rs986397770	258	R>Q		No	ClinGen gnomAD
CA322306292 rs912165621	260	Y>*		No	ClinGen TOPMed
COSM725523 CA10117758 rs765843959	260	Y>C	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs753324281 CA10117759	261	G>D		No	ClinGen ExAC gnomAD
CA322306308 rs944863697	262	I>V		No	ClinGen TOPMed
CA410770994 rs1408097932	263	E>D		No	ClinGen gnomAD
CA410770982 rs1315756262	263	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	264	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1239017720 CA410771000	264	V>M		No	ClinGen gnomAD
rs1453089083 CA410771017	266	T>S		No	ClinGen gnomAD
rs757534328 CA410771031	267	E>D		No	ClinGen ExAC gnomAD
rs751841143 CA10117762	267	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1265351765 CA410771033	268	A>T		No	ClinGen TOPMed
rs1375782565 CA410772357	270	V>L		No	ClinGen gnomAD
rs1375782565 CA410772352	270	V>M		No	ClinGen gnomAD
rs1168430596 CA410772378	271	V>A		No	ClinGen TOPMed gnomAD
rs1168430596 CA410772380	271	V>G		No	ClinGen TOPMed gnomAD
CA322309934 rs199698549	271	V>I		No	ClinGen 1000Genomes TOPMed gnomAD
rs780154816 CA10117787	272	T>P		No	ClinGen ExAC gnomAD
rs371705249 CA410772430	275	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs371705249 CA10117789	275	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	276	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1601706448 CA410772445	276	R>K		No	ClinGen Ensembl
CA410772490 rs1601706465	278	K>N		No	ClinGen Ensembl
CA410772485 rs1405832665	278	K>R		No	ClinGen gnomAD
CA410772512 rs1343798744	280	V>I		No	ClinGen gnomAD
rs201100852 CA10117792	281	V>M	Variant assessed as Somatic; 0.0001399 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1271297581 CA410772559	283	K>Q		No	ClinGen gnomAD
rs781123102 CA10117793	284	D>H		No	ClinGen ExAC gnomAD
rs1203596501 CA410772641	287	K>T		No	ClinGen gnomAD
rs752960303 CA322309981	290	Y>C		No	ClinGen Ensembl
rs756384777 CA322309988	293	L>M		No	ClinGen Ensembl
rs1430098224 CA410772747	295	L>R		No	ClinGen gnomAD
rs1264745796 CA410772744	295	L>V		No	ClinGen gnomAD
rs769542944 CA10117796	296	A>S		No	ClinGen ExAC gnomAD
CA10117795 rs769542944	296	A>T		No	ClinGen ExAC gnomAD
rs1325133844 CA410772767	297	P>L		No	ClinGen Ensembl
rs748700543 CA10117797	300	S>N		No	ClinGen ExAC gnomAD
COSM227653 CA410772841 rs1601706707	301	P>L	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA410772857 rs1393956555	302	K>N		No	ClinGen TOPMed
CA410772873 rs930475653	304	L>P		No	ClinGen gnomAD
CA322310145 rs930475653	304	L>Q		No	ClinGen gnomAD
rs1205267178 CA410772901	307	K>Q		No	ClinGen TOPMed gnomAD
CA10117823 rs760980659	308	G>R		No	ClinGen ExAC gnomAD
rs1180024338 CA410772945	310	E>D		No	ClinGen gnomAD
CA10117825 rs776650994	314	V>L		No	ClinGen ExAC TOPMed gnomAD
CA10117826 rs776650994	314	V>M		No	ClinGen ExAC TOPMed gnomAD
CA410773001 rs1411442869	315	F>C		No	ClinGen gnomAD
rs1569149160 CA410772994	315	F>L		No	ClinGen Ensembl
TCGA novel	317	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs377284602 CA10117827	317	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA410773019 rs1407263298	317	I>N		No	ClinGen gnomAD
CA10117828 rs377284602	317	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10117830 rs150801089	318	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA10117829 rs751903383	318	R>W		No	ClinGen ExAC TOPMed gnomAD
CA10117831 rs139810844	319	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1225147844 CA410773064	322	D>N		No	ClinGen gnomAD
CA10117834 rs748955787	323	A>V		No	ClinGen ExAC gnomAD
CA10117835 rs754639841	324	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs968679291 CA322310236	325	R>C		No	ClinGen TOPMed gnomAD
rs778330092 CA10117836	325	R>H		No	ClinGen ExAC TOPMed gnomAD
COSM3964116 rs772592484 COSM3964117 CA10117838	326	V>M	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA10117841 rs201655926	331	R>*		No	ClinGen ExAC TOPMed gnomAD
CA10117842 rs181636008	331	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10117843 rs759716867	332	G>D		No	ClinGen ExAC gnomAD
rs961355962 CA322310296	333	R>C		No	ClinGen TOPMed gnomAD
CA10117844 rs147200843	333	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs185338332 CA10117846	335	V>M		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA322310359 rs372650074	336	V>A		No	ClinGen Ensembl
rs372650074 CA410773205	336	V>G		No	ClinGen Ensembl
CA410773210 rs200032972	337	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200032972 CA10117847 COSM1182313	337	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs533580715 CA10117848	338	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1307968397 CA410773249	341	G>D		No	ClinGen gnomAD
rs140466618 CA10117851	341	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs778581948 CA10117853	342	F>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	343	L>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10117855 rs570348375	343	L>P		No	ClinGen 1000Genomes ExAC gnomAD
rs1488364582 CA410773269	344	G>R		No	ClinGen gnomAD
CA10117882 rs774607870	347	V>L		No	ClinGen ExAC gnomAD
rs1226877045 CA410773314	349	A>T		No	ClinGen TOPMed gnomAD
CA322310567 rs746930152	350	Y>N		No	ClinGen Ensembl
rs1033974929 CA322310594	351	L>R		No	ClinGen Ensembl
CA10117886 rs145487001	352	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs145487001 CA10117885	352	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1188831377 CA410773351	355	A>T		No	ClinGen gnomAD
rs775234120 CA10117888	355	A>V		No	ClinGen ExAC gnomAD
CA322310639 rs926234535	356	H>Q		No	ClinGen TOPMed
rs762623722 CA10117889	357	S>Y		No	ClinGen ExAC gnomAD
CA322310667 rs45606234	359	S>F		No	ClinGen TOPMed
rs1178577447 CA410773391	360	V>M		No	ClinGen gnomAD
rs1408184243 CA410773402	361	V>M		No	ClinGen gnomAD
CA410773412 rs1456524903	362	E>K		No	ClinGen gnomAD
CA410773432 rs1240397548	363	L>P		No	ClinGen gnomAD
rs868239600 CA322310676	365	E>K		No	ClinGen Ensembl
CA10117892 rs756717490	365	E>V		No	ClinGen ExAC TOPMed gnomAD
CA10117893 rs373473269	366	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs373473269 CA410773470	366	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA322310691 rs768428267	367	P>T		No	ClinGen Ensembl
CA10117895 rs371098629	368	F>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs371098629 CA410773491	368	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs755276108 CA10117898	373	G>E		No	ClinGen ExAC gnomAD
rs749634759 CA10117897	373	G>R		No	ClinGen ExAC gnomAD
rs779222361 CA10117899	374	E>*		No	ClinGen ExAC gnomAD
rs1569149441	374	E>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10117900 rs139501949	375	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10117901 rs772263424	375	R>H		No	ClinGen ExAC TOPMed gnomAD
rs745868220 CA10117903	376	V>M		No	ClinGen ExAC TOPMed gnomAD
rs769577965 CA10117904	377	G>S		No	ClinGen ExAC gnomAD
CA10117905 rs775285677	378	R>C		No	ClinGen ExAC TOPMed gnomAD
rs762676617 CA10117906	378	R>H		No	ClinGen ExAC TOPMed gnomAD
rs867788850 CA322310757	379	A>V		No	ClinGen gnomAD
CA10117908 rs774053295	380	L>F		No	ClinGen ExAC gnomAD
TCGA novel	381	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs572514447 CA322310787	382	K>E		No	ClinGen 1000Genomes gnomAD
CA410773679 rs1601707515	383	M>V		No	ClinGen Ensembl
CA410773700 rs1356662475	384	F>C		No	ClinGen gnomAD
CA410773709 COSM1685169 rs1208852418	385	E>Q	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs765745859 CA10117933	388	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs140732562 CA10117932	388	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs758668022 CA410773750 CA10117935	389	V>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	393	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10117938 rs145883640	393	M>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs751662410 CA10117937	393	M>V		No	ClinGen ExAC gnomAD
rs952816331 CA322311010	395	T>M		No	ClinGen gnomAD
rs1437638655 CA410773836	396	E>D		No	ClinGen gnomAD
rs1601707591 CA410773842	397	V>G		No	ClinGen Ensembl
rs749268990 CA10117940	397	V>L		No	ClinGen ExAC gnomAD
rs528081577 CA410773883	401	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs528081577 CA10117941	401	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA410773880 rs1365055212	401	R>W		No	ClinGen TOPMed gnomAD
CA10117943 rs747853511	402	G>D		No	ClinGen ExAC TOPMed gnomAD
CA10117942 rs778803055	402	G>R		No	ClinGen ExAC TOPMed gnomAD
CA410773886 rs778803055	402	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs771772853 CA10117944	403	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA410773909 rs1263249231	404	E>*		No	ClinGen TOPMed gnomAD
CA410773906 rs1263249231	404	E>Q		No	ClinGen TOPMed gnomAD
CA410773918 rs1352592793	405	G>R		No	ClinGen gnomAD
TCGA novel	406	K>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs551037156 CA10117945	406	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10117964 rs146611400	408	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA10117968 rs777612297	410	V>A		No	ClinGen ExAC TOPMed gnomAD
rs141335687 CA410774004	410	V>F		No	ClinGen ESP TOPMed gnomAD
CA10117966 rs141335687	410	V>I		No	ClinGen ESP TOPMed gnomAD
CA410774023 rs1569149682	412	L>V		No	ClinGen Ensembl
CA410774042 rs1381637352	414	S>G		No	ClinGen TOPMed
CA322311225 rs536782098	417	V>A		No	ClinGen 1000Genomes gnomAD
CA410774084 rs536782098	417	V>D		No	ClinGen 1000Genomes gnomAD
CA10117972 rs374823610	418	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10117971 rs374823610	418	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10117974 rs775926412	419	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs770338223 CA10117973	419	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1471778143 CA410774109	420	A>D		No	ClinGen gnomAD
rs774742086 CA10117977	422	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs376592022 CA10117979	424	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA410774180 rs1233001726	427	I>T		No	ClinGen TOPMed
CA322311891 rs957890741	428	G>D		No	ClinGen TOPMed
rs776597853 CA10118019	431	P>T		No	ClinGen ExAC gnomAD
CA10118021 rs765401131 COSM3363559	432	A>T	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	433	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1216948029 CA410774296	439	S>N		No	ClinGen TOPMed
CA410774301 rs1212158208	439	S>R		No	ClinGen TOPMed gnomAD
CA10118025 rs138766186	440	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1465785729 CA410774306	440	G>D		No	ClinGen gnomAD
CA10118024 rs138766186	440	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs201028984 CA10118027	442	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10118028 CA410774349 rs753294999	444	D>E		No	ClinGen ExAC TOPMed gnomAD
CA410774345 rs1569150149	444	D>G		No	ClinGen Ensembl
CA322311902 rs981863732	444	D>H		No	ClinGen Ensembl
CA10118029 rs754586397	446	R>*		No	ClinGen ExAC TOPMed gnomAD
CA10118030 rs566701335	446	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs772537593 CA410774365	447	G>C		No	ClinGen ExAC TOPMed gnomAD
CA10118032 rs772537593	447	G>S		No	ClinGen ExAC TOPMed gnomAD
CA410774383 rs1318453401	449	I>L		No	ClinGen gnomAD
CA10118033 rs150983915	449	I>N		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	449	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10118034 rs747351031	452	N>S		No	ClinGen ExAC gnomAD
COSM3708157 rs776262361 CA10118064	455	M>I	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA410774481 rs1432881955	455	M>T		No	ClinGen gnomAD
rs140853714 CA10118065	457	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs752218781 CA10118067	458	N>S		No	ClinGen ExAC gnomAD
rs1274707662 CA410774539	460	P>L		No	ClinGen TOPMed gnomAD
CA10118070 rs752154951	462	V>L		No	ClinGen ExAC TOPMed gnomAD
CA10118071 COSM48225 rs752154951	462	V>M	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1179564744 CA410774558	463	F>I		No	ClinGen TOPMed
CA410774563 rs1274946592	463	F>S		No	ClinGen gnomAD
rs781643045 CA10118072	464	A>P		No	ClinGen ExAC TOPMed gnomAD
rs756414037 COSM1032408 CA10118074	467	D>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA410774611 rs1289457963	468	A>V		No	ClinGen TOPMed
rs749519659 CA10118076	469	V>L		No	ClinGen ExAC TOPMed gnomAD
CA410774739 rs1452696198	475	W>L		No	ClinGen gnomAD
CA322312140 rs780151063	478	N>D		No	ClinGen TOPMed
CA410774795 rs1390845481	478	N>S		No	ClinGen gnomAD
rs143682848 CA10118078	479	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA10118079 rs747011410 COSM1032409	479	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA10118080 rs747011410	479	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1220120472 CA410774840	483	I>V		No	ClinGen gnomAD
rs1569150339 CA410774856	484	P>R		No	ClinGen Ensembl
TCGA novel	486	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA410774874 rs1323502565	486	W>R		No	ClinGen TOPMed gnomAD
CA410774939 rs759270162	490	H>Q		No	ClinGen ExAC gnomAD
CA410774928 rs1437862546	490	H>Y		No	ClinGen gnomAD
CA410774951 rs1224794700	491	A>D		No	ClinGen gnomAD
TCGA novel	491	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA410774945 rs1363812641	491	A>T		No	ClinGen gnomAD
CA410774955 rs1224794700	491	A>V		No	ClinGen gnomAD
CA322312184 rs984215303	492	Q>R		No	ClinGen Ensembl
rs373787248 CA322313075	494	R>G		No	ClinGen ESP TOPMed gnomAD
CA410775765 rs1304124990	494	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1413855578 CA410775776	495	V>L		No	ClinGen TOPMed gnomAD
rs1413855578 CA410775771	495	V>M		No	ClinGen TOPMed gnomAD
TCGA novel	496	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1310620028 CA410775817	498	Q>H		No	ClinGen gnomAD
CA10118103 rs569481399	499	N>K		No	ClinGen 1000Genomes ExAC gnomAD
CA10118105 rs761157575	500	M>I		No	ClinGen ExAC TOPMed gnomAD
rs868701766 CA322313085	502	A>E		No	ClinGen gnomAD
rs868701766 CA410775890	502	A>V		No	ClinGen gnomAD
TCGA novel	503	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA410775926 rs1257894701	505	A>T		No	ClinGen gnomAD
TCGA novel	505	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs866407347 CA322313088	507	M>I		No	ClinGen Ensembl
CA410775971 rs1398873290	507	M>R		No	ClinGen TOPMed
CA10118108 rs61356271	508	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_061553 CA10118107 rs61356271	508	S>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA410775991 rs1601710234	509	T>P		No	ClinGen Ensembl
CA410776004 rs1601710244	510	V>G		No	ClinGen Ensembl
rs766894095 CA10118109	510	V>L		No	ClinGen ExAC gnomAD
rs766894095 CA410776000	510	V>M		No	ClinGen ExAC gnomAD
rs147210962 CA10118111	512	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs147210962 CA10118112	512	Y>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1601710267 CA410776017	512	Y>H		No	ClinGen Ensembl
rs147210962 CA410776019	512	Y>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs752829011 CA410776027	513	L>F		No	ClinGen ExAC TOPMed gnomAD
rs752829011 CA10118113	513	L>I		No	ClinGen ExAC TOPMed gnomAD
rs777807240 CA10118115	515	T>A		No	ClinGen ExAC gnomAD
CA10118116 rs367937547	516	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA410776074 rs1370894942	517	M>I		No	ClinGen gnomAD
rs1297443825 CA410776068	517	M>L		No	ClinGen TOPMed gnomAD
CA410776070 rs1238344450	517	M>T		No	ClinGen TOPMed
rs1297443825 CA410776067	517	M>V		No	ClinGen TOPMed gnomAD
rs756004664 CA10118117	520	K>E		No	ClinGen ExAC TOPMed gnomAD
CA410776109 rs1371845597	521	S>R		No	ClinGen gnomAD
rs1233605421 CA410776126	523	R>C		No	ClinGen gnomAD
rs779846787 CA10118118	523	R>H		No	ClinGen ExAC gnomAD
CA410776143 rs1462340381	524	Y>*		No	ClinGen TOPMed
rs1206119574 CA410776140	524	Y>C		No	ClinGen gnomAD
rs1344638701 CA410776135	524	Y>H		No	ClinGen gnomAD
CA322313127 rs993896789	525	A>S		No	ClinGen TOPMed gnomAD
CA410776145 rs993896789	525	A>T		No	ClinGen TOPMed gnomAD
rs748974196 CA410776153	526	G>C		No	ClinGen ExAC TOPMed gnomAD
CA10118119 rs748974196	526	G>S		No	ClinGen ExAC TOPMed gnomAD
rs747798414 CA10118143	527	Y>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	528	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1644382 rs377494972 CA10118145 CA322313444	528	G>R	salivary_gland [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA10118146 rs371219265	528	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA10118147 rs771570968	529	E>D		No	ClinGen ExAC gnomAD
rs374162437 CA322313463	530	G>S		No	ClinGen ESP gnomAD
CA410776268 rs1355240490	534	V>F		No	ClinGen gnomAD
TCGA novel	537	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1413270811 CA410776308	537	Q>R		No	ClinGen gnomAD
TCGA novel	538	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	539	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs367787216 CA410776319	539	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10118148 rs367787216	539	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA410776346 rs765558479	543	L>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	546	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775883038 CA10118151	547	A>T		No	ClinGen ExAC gnomAD
CA410776377 rs1291652833	547	A>V		No	ClinGen TOPMed
rs906858918 CA322313780	552	G>D		No	ClinGen TOPMed
CA410776427 rs1397669195	553	D>H		No	ClinGen TOPMed gnomAD
rs1327466434 CA410776437	554	E>K		No	ClinGen gnomAD
rs1601711312 CA410776457	555	V>G		No	ClinGen Ensembl
CA410776469 rs1442258632	557	A>P		No	ClinGen TOPMed gnomAD
CA410776471 rs1442258632	557	A>S		No	ClinGen TOPMed gnomAD
rs1442258632 CA410776468	557	A>T		No	ClinGen TOPMed gnomAD
rs1368147862 CA410776478	558	V>M		No	ClinGen gnomAD
CA322313807 rs1011340614	559	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs767621376 CA322313832	560	S>I		No	ClinGen ExAC TOPMed gnomAD
CA10118174 rs767621376	560	S>T		No	ClinGen ExAC TOPMed gnomAD
CA322313840 rs570470648	561	M>L		No	ClinGen 1000Genomes ExAC
CA10118175 rs570470648	561	M>V		No	ClinGen 1000Genomes ExAC
rs368864004 CA10118176	562	N>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10118177 rs765167570	562	N>K		No	ClinGen ExAC gnomAD
rs368864004 CA410776518	562	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1193818891 CA410776528	563	Y>C		No	ClinGen gnomAD
CA10118179 rs758336620	564	D>H		No	ClinGen ExAC TOPMed gnomAD
CA410776536 rs758336620	564	D>N		No	ClinGen ExAC TOPMed gnomAD
rs777698722 CA10118180	565	P>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs751307565 CA10118181	566	I>T		No	ClinGen ExAC gnomAD
rs371794358 CA322313855	566	I>V		No	ClinGen ESP TOPMed
rs756928795 CA10118182	568	S>C		No	ClinGen ExAC gnomAD
rs1373815998 CA410776579	569	K>E		No	ClinGen gnomAD
CA410776595 rs1485968795	570	V>A		No	ClinGen gnomAD
rs9620700 CA322313866	571	A>D		No	ClinGen Ensembl
CA410776597 rs1475188294	571	A>S		No	ClinGen gnomAD
CA410776601 rs1475188294	571	A>T		No	ClinGen gnomAD
CA410776633 rs1420460722	575	A>T		No	ClinGen gnomAD
rs1462382452 CA410776656	577	G>S		No	ClinGen TOPMed
CA322313873 rs541959282	578	R>C		No	ClinGen gnomAD
CA10118184 rs116635261	578	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1224773335 CA410776691	581	R>Q		No	ClinGen gnomAD
rs1325530847 CA410776687	581	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA410776705 rs1285804555	582	K>N		No	ClinGen gnomAD
CA322313898 rs1008206831	583	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA10118185 rs770206811	583	R>W		No	ClinGen ExAC TOPMed gnomAD
rs780674428 CA10118186	584	E>G		No	ClinGen ExAC gnomAD
CA410776721 rs1243754960	585	V>M		No	ClinGen TOPMed
rs1052524310 CA322314424	586	E>D		No	ClinGen TOPMed gnomAD
rs373461668 CA10118214	588	F>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA410776857 rs1285573697	589	V>L		No	ClinGen TOPMed
rs1391902576 CA410776873	591	H>D		No	ClinGen gnomAD
rs1334586576 CA410776896	592	S>I		No	ClinGen TOPMed
rs1369668948 CA410776953	593	K>N		No	ClinGen TOPMed
CA410776957 rs1601712458	594	T>A		No	ClinGen Ensembl
rs1233860092 CA410776960	594	T>N		No	ClinGen gnomAD
CA410776971 rs1309663865	595	G>D		No	ClinGen gnomAD
rs774483526 CA10118239	596	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1216089903 CA410776998	597	M>I		No	ClinGen gnomAD
CA410776990 rs1479975753	597	M>V		No	ClinGen TOPMed gnomAD
CA410777020 rs1468432256	599	W>*		No	ClinGen TOPMed
rs761633793 CA10118240	599	W>S		No	ClinGen ExAC gnomAD
TCGA novel	600	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767385038 CA10118241	600	L>R		No	ClinGen ExAC gnomAD
CA10118242 rs370473954	601	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA10118243 rs370473954	601	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA410777045 rs1371118282	602	G>E		No	ClinGen TOPMed gnomAD
CA10118245 rs753351635	602	G>R		No	ClinGen ExAC gnomAD
TCGA novel	604	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA410777078 rs1186512010	605	S>F		No	ClinGen TOPMed
CA10118246 rs759114476	605	S>P		No	ClinGen ExAC gnomAD

No associated diseases with Q96NN9

7 regional properties for Q96NN9

Type	Name	Position	InterPro Accession
domain	Translational (tr)-type GTP-binding domain	10 - 204	IPR000795
domain	Translation elongation factor EFTu/EF1A, C-terminal	298 - 392	IPR004160
domain	Translation elongation factor EFTu-like, domain 2	225 - 293	IPR004161
domain	Small GTP-binding protein domain	13 - 148	IPR005225
conserved_site	Tr-type G domain, conserved site	51 - 66	IPR031157
domain	Elongation factor Tu, domain 2	211 - 297	IPR033720
domain	Elongation factor Tu (EF-Tu), GTP-binding domain	11 - 203	IPR041709

Functions

		Description
EC Number
Subcellular Localization	Mitochondrion	Does not translocate to the nucleus upon induction of apoptosis
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 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).
mitochondrial inner membrane	The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae.
mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.

4 GO annotations of molecular function

Name	Definition
2 iron, 2 sulfur cluster binding	Binding to a 2 iron, 2 sulfur (2Fe-2S) cluster; this cluster consists of two iron atoms, with two inorganic sulfur atoms found between the irons and acting as bridging ligands.
flavin adenine dinucleotide binding	Binding to FAD, flavin-adenine dinucleotide, the coenzyme or the prosthetic group of various flavoprotein oxidoreductase enzymes, in either the oxidized form, FAD, or the reduced form, FADH2.
metal ion binding	Binding to a metal ion.
oxidoreductase activity, acting on NAD(P)H	Catalysis of an oxidation-reduction (redox) reaction in which NADH or NADPH acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor.

1 GO annotations of biological process

Name	Definition
execution phase of apoptosis	A stage of the apoptotic process that starts with the controlled breakdown of the cell through the action of effector caspases or other effector molecules (e.g. cathepsins, calpains etc.). Key steps of the execution phase are rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.

6 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O95831	AIFM1	Apoptosis-inducing factor 1, mitochondrial	Homo sapiens (Human)	PR
Q9Z0X1	Aifm1	Apoptosis-inducing factor 1, mitochondrial	Mus musculus (Mouse)	PR
Q3TY86	Aifm3	Apoptosis-inducing factor 3	Mus musculus (Mouse)	PR
Q9JM53	Aifm1	Apoptosis-inducing factor 1, mitochondrial	Rattus norvegicus (Rat)	PR
Q93WJ8	MDAR2	Monodehydroascorbate reductase 2	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9SR59	MDAR3	Monodehydroascorbate reductase 3	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MGGCFSKPKP	VELKIEVVLP	EKERGKEELS	ASGKGSPRAY	QGNGTARHFH	TEERLSTPHP
70	80	90	100	110	120
YPSPQDCVEA	AVCHVKDLEN	GQMREVELGW	GKVLLVKDNG	EFHALGHKCP	HYGAPLVKGV
130	140	150	160	170	180
LSRGRVRCPW	HGACFNISTG	DLEDFPGLDS	LHKFQVKIEK	EKVYVRASKQ	ALQLQRRTKV
190	200	210	220	230	240
MAKCISPSAG	YSSSTNVLIV	GAGAAGLVCA	ETLRQEGFSD	RIVLCTLDRH	LPYDRPKLSK
250	260	270	280	290	300
SLDTQPEQLA	LRPKEFFRAY	GIEVLTEAQV	VTVDVRTKKV	VFKDGFKLEY	SKLLLAPGSS
310	320	330	340	350	360
PKTLSCKGKE	VENVFTIRTP	EDANRVVRLA	RGRNVVVVGA	GFLGMEVAAY	LTEKAHSVSV
370	380	390	400	410	420
VELEETPFRR	FLGERVGRAL	MKMFENNRVK	FYMQTEVSEL	RGQEGKLKEV	VLKSSKVVRA
430	440	450	460	470	480
DVCVVGIGAV	PATGFLRQSG	IGLDSRGFIP	VNKMMQTNVP	GVFAAGDAVT	FPLAWRNNRK
490	500	510	520	530	540
VNIPHWQMAH	AQGRVAAQNM	LAQEAEMSTV	PYLWTAMFGK	SLRYAGYGEG	FDDVIIQGDL
550	560	570	580	590	600
EELKFVAFYT	KGDEVIAVAS	MNYDPIVSKV	AEVLASGRAI	RKREVELFVL	HSKTGDMSWL

TGKGS