AiPD: Autoinhibited Protein Database

Q8N807

Gene name	PDILT
Protein name	Protein disulfide-isomerase-like protein of the testis
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:204474
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-66 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-66 (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

3 structures for Q8N807

Entry ID	Method	Resolution	Chain	Position	Source
4NWY	X-ray	200 A	A/B/C/D	258-386	PDB
5XF7	X-ray	238 A	A	21-584	PDB
AF-Q8N807-F1	Predicted				AlphaFoldDB

554 variants for Q8N807

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1206049746 CA394979696	2	D>Y		No	ClinGen TOPMed gnomAD
rs939692911 CA279287300	5	W>G		No	ClinGen gnomAD
CA394979675 rs939692911	5	W>R		No	ClinGen gnomAD
rs1416188860 CA394979654	6	M>K		No	ClinGen TOPMed
rs1341779214 CA394979634	7	P>L		No	ClinGen gnomAD
rs1424683805 CA394979619	9	L>V		No	ClinGen TOPMed
CA394979611 rs1162990086	10	L>M		No	ClinGen TOPMed
COSM1220076 CA394979602 rs146737900	11	V>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed
CA7940190 rs146737900	11	V>M		No	ClinGen ESP ExAC TOPMed
rs201282101 CA7940188	13	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1567333081 CA394979575	13	A>V		No	ClinGen Ensembl
CA7940187 rs144276406	14	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA394979540 rs1454578593	16	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1379445905 CA394979549	16	S>P		No	ClinGen TOPMed
CA7940186 rs755289659	17	A>S		No	ClinGen ExAC TOPMed
CA7940185 rs751918791	17	A>V		No	ClinGen ExAC gnomAD
CA394979491 rs1419321015	20	S>R		No	ClinGen TOPMed gnomAD
rs763231017 CA7940182	22	P>A		No	ClinGen ExAC TOPMed gnomAD
rs765210000 CA7940180	23	E>G		No	ClinGen ExAC TOPMed gnomAD
CA394979467 rs1305735547	23	E>Q		No	ClinGen TOPMed
rs1237896191 CA394979455	24	V>F		No	ClinGen TOPMed
CA7940178 rs9926580	26	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7940177 rs9926580 VAR_039937	26	A>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7940175 rs532356522	27	G>S		No	ClinGen 1000Genomes ExAC TOPMed
rs1258787587 CA394979413	28	V>I		No	ClinGen gnomAD
CA7940173 rs774063593	29	S>A		No	ClinGen ExAC TOPMed gnomAD
CA7940172 rs770598986	31	I>L		No	ClinGen ExAC gnomAD
rs146338781 CA7940171	31	I>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7940170 rs142253591	32	H>R		No	ClinGen ESP ExAC
rs755543935 CA394979352	33	I>L		No	ClinGen ExAC TOPMed gnomAD
CA7940169 rs755543935	33	I>V		No	ClinGen ExAC TOPMed gnomAD
CA7940168 rs748752461	34	T>I		No	ClinGen ExAC gnomAD
rs1452378244 CA394979318	35	K>R		No	ClinGen TOPMed
rs781568216 CA7940167	36	P>A		No	ClinGen ExAC TOPMed gnomAD
rs781568216 CA394979312	36	P>T		No	ClinGen ExAC TOPMed gnomAD
CA7940166 rs755450162	37	V>G		No	ClinGen ExAC gnomAD
CA394979300 rs1383492032	37	V>L		No	ClinGen gnomAD
rs766803129 CA7940164	39	I>F		No	ClinGen ExAC gnomAD
rs1328943472 CA394979263	39	I>T		No	ClinGen gnomAD
rs144390016 CA7940161	42	E>K		No	ClinGen ESP ExAC gnomAD
COSM167763 rs776715354 CA7940159	43	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA7940158 COSM1609014 rs767360839	43	R>H	Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA7940157 rs138467967	44	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA7940156 rs138467967	44	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs748977651 CA7940154	46	L>P		No	ClinGen ExAC gnomAD
CA7940153 rs193158575	47	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs143235162 CA7940151	49	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA7940148 rs747499107	50	P>L		No	ClinGen ExAC gnomAD
rs755465321 CA7940149	50	P>S		No	ClinGen ExAC gnomAD
rs372343696 COSM434797 CA7940146	51	A>T	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA7940145 rs150116953	52	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1408652256 CA394979110	52	G>S		No	ClinGen gnomAD
CA7940144 rs150116953	52	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA394979099 rs1567332935	53	L>M		No	ClinGen Ensembl
CA394979077 rs1469569129	54	T>I		No	ClinGen TOPMed
rs1426525515 CA394979089	54	T>P		No	ClinGen TOPMed
CA394979051 rs1163121487	55	Q>H		No	ClinGen TOPMed gnomAD
CA7940141 rs764183373	56	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1003889543 CA279286912	57	L>M		No	ClinGen Ensembl
CA394978996 rs1181603124	58	N>K		No	ClinGen gnomAD
CA279286878 COSM1301699 rs948073662	59	Q>K	urinary_tract [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1200321723 CA394978974	60	T>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7940139 rs80285655	60	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs368369154 CA7940137	61	R>C		No	ClinGen ESP ExAC gnomAD
CA7940138 rs368369154	61	R>G		No	ClinGen ESP ExAC gnomAD
CA7940136 COSM968046 rs772997693	61	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs769366886 CA7940135	63	L>F		No	ClinGen ExAC TOPMed gnomAD
CA7940133 rs776057236	64	M>R		No	ClinGen ExAC gnomAD
rs776057236 CA394978930	64	M>T		No	ClinGen ExAC gnomAD
rs147993256 CA7940131	66	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	67	F>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA279286799 rs1054329417	67	F>L		No	ClinGen Ensembl
rs143873904 CA7940130	68	H>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143873904 CA7940129	68	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756268093 CA7940102	69	N>K		No	ClinGen ExAC gnomAD
CA394975965 rs1447640390	69	N>S		No	ClinGen gnomAD
CA279276758 rs748295360	70	P>L		No	ClinGen gnomAD
CA394975951 rs748295360	70	P>Q		No	ClinGen gnomAD
rs748262367 CA7940101	70	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
CA394975944 rs1253898153	71	S>Y		No	ClinGen gnomAD
CA7940098 rs146719463	73	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	75	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394975876 rs1297388321	77	N>I		No	ClinGen gnomAD
CA394975878 rs1297388321	77	N>S		No	ClinGen gnomAD
CA394975865 rs1226609077	78	L>F		No	ClinGen gnomAD
TCGA novel	78	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs143343359 CA7940096	79	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1367242468 CA394975860	79	A>T		No	ClinGen TOPMed
CA7940095 rs143343359	79	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA394975854 rs1395536984	80	E>K		No	ClinGen gnomAD
rs141023477 CA7940093	83	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA279276716 rs1019771750	84	K>R		No	ClinGen Ensembl
CA394975794 rs1299967838	86	V>M		No	ClinGen gnomAD
CA7940092 rs534001534	87	E>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA279276705 rs890052139	88	I>F		No	ClinGen TOPMed gnomAD
rs1167772513 CA394975770	88	I>N		No	ClinGen gnomAD
rs1020428645 CA279276689	89	M>I		No	ClinGen TOPMed
CA7940091 rs775162102	89	M>L		No	ClinGen ExAC gnomAD
rs779933955 CA279276687	92	G>C		No	ClinGen Ensembl
CA7940090 rs760000909	94	N>K		No	ClinGen ExAC gnomAD
CA394975690 rs1227255869	96	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs566608055 CA394975684	96	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA394975688 rs1309877523	96	I>T		No	ClinGen TOPMed
rs375479299 CA7940087	97	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA394975664 rs1339840241	98	F>C		No	ClinGen TOPMed
rs1273787881 CA394975671	98	F>L		No	ClinGen TOPMed
rs749672868 CA7940086	101	V>M		No	ClinGen ExAC gnomAD
rs1483661689 CA394975587	105	I>T		No	ClinGen TOPMed
CA7940084 rs773495613 COSM1376384	106	E>K	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed
CA279276664 rs773495613 VAR_039938 COSM33115	106	E>Q	large_intestine a colorectal cancer sample; somatic mutation [Cosmic, UniProt]	No	ClinGen cosmic curated UniProt ExAC TOPMed dbSNP
rs139688634 CA7940082	107	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1266549533 CA394975552	108	E>D		No	ClinGen TOPMed gnomAD
CA394975561 rs1376218120	108	E>K		No	ClinGen gnomAD
CA7940081 rs781291960	108	E>V		No	ClinGen ExAC gnomAD
CA7940080 rs755084345	110	Q>*		No	ClinGen ExAC gnomAD
CA394975539 rs755084345	110	Q>E		No	ClinGen ExAC gnomAD
rs1173404733 CA394975534	110	Q>H		No	ClinGen TOPMed gnomAD
CA7940079 rs539440383	112	E>G		No	ClinGen 1000Genomes ExAC gnomAD
CA279276643 rs866135832	112	E>K		No	ClinGen Ensembl
CA394975515 rs539440383	112	E>V		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	113	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778925498 CA7940078	113	F>L		No	ClinGen ExAC gnomAD
rs1410482220 CA394975493	114	G>E		No	ClinGen gnomAD
CA7940077 rs757076614	115	I>T		No	ClinGen ExAC gnomAD
rs934794878 CA279276638	116	T>I		No	ClinGen TOPMed gnomAD
CA394975459 rs1163606981	118	A>T		No	ClinGen gnomAD
CA7940075 rs201976699	119	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7940073 rs752364490	120	E>G		No	ClinGen ExAC gnomAD
rs767200436 CA7940072	122	K>T		No	ClinGen ExAC gnomAD
rs773672538 CA7940070	124	F>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	125	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766910703 CA7940068	128	N>H		No	ClinGen ExAC gnomAD
rs753509112 CA279276585	128	N>K		No	ClinGen Ensembl
CA7940067 rs763323272	129	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1220742055 CA394975325	131	E>K		No	ClinGen TOPMed
rs773620193 CA7940066	132	P>T		No	ClinGen ExAC gnomAD
CA7940064 rs140161685	133	I>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7940063 rs776822199	134	S>I		No	ClinGen ExAC gnomAD
rs1261469065 CA394975273	135	C>*		No	ClinGen TOPMed
TCGA novel	138	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7940041 rs200629155	139	V>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1278192041 CA394974248	140	E>D		No	ClinGen TOPMed gnomAD
rs1199014357 CA394974241	141	S>P		No	ClinGen TOPMed gnomAD
rs1341715535 CA394974231	142	A>T		No	ClinGen gnomAD
COSM968044 rs143170020 CA7940038	146	V>I	ovary endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA394974141 COSM434795 rs1295249670	148	L>F	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA394974152 rs1422807061	148	L>V		No	ClinGen TOPMed
COSM1478596 CA7940037 rs139247719	150	R>*	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs754779838 COSM968043 CA7940035	150	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs757894772 CA7940033	153	S>R		No	ClinGen ExAC TOPMed gnomAD
rs749879073 CA7940032	154	Q>*		No	ClinGen ExAC gnomAD
CA7940031 rs765738970	156	A>G		No	ClinGen ExAC gnomAD
CA279267994 rs916246884	156	A>T		No	ClinGen TOPMed
CA394973981 rs1448213515	158	L>W		No	ClinGen TOPMed
CA7940029 rs754253806	161	S>R		No	ClinGen ExAC gnomAD
rs764342968 CA7940028	162	S>G		No	ClinGen ExAC
rs143949312 CA7940026	163	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	163	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394973879 COSM3723012 rs1275316670	164	Q>*	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated TOPMed
CA394973883 rs1275316670	164	Q>K		No	ClinGen TOPMed
CA394973877 rs1185479483	164	Q>P		No	ClinGen gnomAD
CA7940025 rs772251286	166	A>S		No	ClinGen ExAC TOPMed gnomAD
CA394973848 rs772251286	166	A>T		No	ClinGen ExAC TOPMed gnomAD
rs759697834 CA7940024	166	A>V		No	ClinGen ExAC gnomAD
CA394973832 rs1341131559	167	E>G		No	ClinGen gnomAD
rs867557487 CA279267948	169	V>L		No	ClinGen TOPMed
rs867557487 CA394973808	169	V>M		No	ClinGen TOPMed
CA7940023 rs774501771	171	S>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	172	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394973745 rs202211115	173	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs202211115 CA7940022	173	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA7940021 rs149494288	174	L>S		No	ClinGen ESP ExAC gnomAD
CA394973720 rs1184380120	175	V>I		No	ClinGen TOPMed
CA394973692 rs186692475	176	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7940018 rs746737295	177	V>A		No	ClinGen ExAC gnomAD
CA7940019 rs137888908	177	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7940017 rs150304493	178	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA394973649 rs1369165079	179	F>L		No	ClinGen TOPMed gnomAD
CA279267920 rs1017461785	181	Q>*		No	ClinGen TOPMed
rs778433768 CA7939996	186	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1216593738 CA394973078	187	V>G		No	ClinGen TOPMed
CA7939995 rs756754065	187	V>I		No	ClinGen ExAC gnomAD
CA7939993 rs778156248	189	E>A		No	ClinGen ExAC TOPMed gnomAD
CA394973038 rs756573953	190	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1385915942 CA394973032	191	F>L		No	ClinGen gnomAD
rs1220190124 CA394973024	191	F>L		No	ClinGen gnomAD
CA7939990 rs767942876	192	Y>F		No	ClinGen ExAC gnomAD
rs753031009 CA7939991	192	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs755298195 CA7939989	193	D>N		No	ClinGen ExAC gnomAD
CA394972989 rs1482338733	194	V>A		No	ClinGen TOPMed
rs573859149 CA279267047	195	I>S		No	ClinGen gnomAD
CA394972933 rs1206949990	198	F>S		No	ClinGen TOPMed
rs140244645 CA7939987	199	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA394972898 rs1176971060	201	L>V		No	ClinGen gnomAD
CA394972880 rs1424272841	202	T>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1424272841 CA394972884	202	T>M		No	ClinGen TOPMed gnomAD
rs763970638 CA7939984	206	I>T		No	ClinGen ExAC
rs371240946 CA394972821	207	T>K		No	ClinGen ExAC TOPMed gnomAD
CA7939983 rs371240946	207	T>M		No	ClinGen ExAC TOPMed gnomAD
rs373650152 CA7939981	210	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA7939980 rs759250144	210	N>S		No	ClinGen ExAC TOPMed gnomAD
CA7939978 rs770558832	212	I>M		No	ClinGen ExAC gnomAD
CA7939979 rs773978008	212	I>T		No	ClinGen ExAC TOPMed gnomAD
COSM294691 rs144890989 CA7939977	214	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA7939976 rs144890989	214	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs369365786 CA7939975	214	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA394972738 rs369365786	214	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA394972741 rs144890989	214	R>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA394972696 rs1297436438	217	V>A		No	ClinGen gnomAD
CA7939973 rs140957479	217	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA394972690 rs756881972	218	T>A		No	ClinGen TOPMed gnomAD
rs756881972 CA279266974	218	T>S		No	ClinGen TOPMed gnomAD
COSM1708842 rs751918734 CA7939971	219	L>F	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA394972677 rs751918734	219	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs780432251 CA7939970	220	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1199123554 CA394972653	221	S>G		No	ClinGen TOPMed
CA7939969 rs78751740	221	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs765339152 CA7939967	222	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs765339152 CA394972639	222	V>L		No	ClinGen ExAC TOPMed gnomAD
CA7939964 rs767357353	224	V>A		No	ClinGen ExAC TOPMed gnomAD
CA7939963 rs759339323	226	K>R		No	ClinGen ExAC gnomAD
CA7939962 rs774065475	227	K>*		No	ClinGen ExAC gnomAD
rs1030249883 CA394972337	228	G>*		No	ClinGen TOPMed gnomAD
rs78666211 CA279265974	228	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA279265976 rs1030249883	228	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	229	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7939943 rs766171133	229	K>R		No	ClinGen ExAC gnomAD
CA7939942 rs762551414	230	I>L		No	ClinGen ExAC gnomAD
CA279265960 rs889704321	231	V>M		No	ClinGen Ensembl
rs1433718317 CA394972293	232	N>K		No	ClinGen TOPMed
CA7939940 rs144790154 COSM1737321	233	R>C	central_nervous_system [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA7939939 rs141043720 COSM1220077	233	R>H	kidney large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs141043720 CA7939938	233	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1290289533 CA394972276	234	Q>P		No	ClinGen gnomAD
CA7939937 rs776246113	237	I>L		No	ClinGen ExAC gnomAD
CA279265932 rs750927192	237	I>N		No	ClinGen TOPMed gnomAD
CA394972243 rs750927192	237	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA394972233 rs1327983329	238	N>I		No	ClinGen gnomAD
rs1228622107 CA394972221	239	D>V		No	ClinGen TOPMed
CA279265931 rs572238475	240	S>G		No	ClinGen 1000Genomes
CA394972212 rs1389425505	240	S>N		No	ClinGen TOPMed gnomAD
CA7939935 rs768018304	241	T>I		No	ClinGen ExAC TOPMed gnomAD
CA7939936 rs769309920	241	T>P		No	ClinGen ExAC TOPMed gnomAD
CA7939933 rs772483625	244	Q>E		No	ClinGen ExAC gnomAD
CA394972164 rs1240165686	244	Q>R		No	ClinGen TOPMed
CA7939931 rs369490121	247	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	247	N>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394972118 rs1362816637	248	R>G		No	ClinGen gnomAD
rs757403657 CA7939930 COSM1261825	248	R>H	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA394972115 rs757403657	248	R>P		No	ClinGen ExAC gnomAD
rs777776876 CA7939928	249	V>G		No	ClinGen ExAC TOPMed gnomAD
CA394972079 rs372096210	250	I>M		No	ClinGen ESP ExAC gnomAD
CA7939925 rs766151520	252	Q>H		No	ClinGen ExAC gnomAD
CA394972009 rs1209406768	254	L>F		No	ClinGen gnomAD
CA7939924 rs758229319	254	L>R		No	ClinGen ExAC
CA394971985 rs1328789382	256	D>H		No	ClinGen gnomAD
CA7939923 rs750122337	259	I>N		No	ClinGen ExAC TOPMed gnomAD
rs761511903 COSM1678890 CA7939921	260	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA394971896 TCGA novel rs1596584695	261	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
CA394971879 rs1301701703	262	N>S		No	ClinGen gnomAD
CA279265848 rs371378365	263	T>I		No	ClinGen ESP TOPMed gnomAD
rs760272658 CA7939900	266	K>Q		No	ClinGen ExAC gnomAD
rs752080506 CA7939899	266	K>R		No	ClinGen ExAC gnomAD
CA7939895 rs771250875	271	E>G		No	ClinGen ExAC gnomAD
CA7939896 rs148926295	271	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7939893 rs139885325	272	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	275	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769939928 CA7939892	275	M>L		No	ClinGen ExAC TOPMed gnomAD
rs375150932 CA7939891	276	S>N		No	ClinGen ESP ExAC gnomAD
CA394971592 rs1596584540	277	H>Y		No	ClinGen Ensembl
rs1340723076 CA394971580	278	M>V		No	ClinGen gnomAD
CA394971560 rs1165583372	279	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA279265738 rs112091468	280	L>P		No	ClinGen Ensembl
TCGA novel	284	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	285	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs193085306 CA7939888	285	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs778919842 CA7939886	287	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs757106396 CA7939885	289	Y>C		No	ClinGen ExAC gnomAD
rs753631150 CA7939884	290	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1280360896 CA394971411	290	G>V		No	ClinGen TOPMed
CA394971404 rs1341319599	291	I>V		No	ClinGen TOPMed
CA394971356 rs1417420250	294	Q>R		No	ClinGen gnomAD
rs768888051 CA279265717	295	H>R		No	ClinGen Ensembl
CA279265719 rs956262298	295	H>Y		No	ClinGen TOPMed
TCGA novel	300	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394971292 rs1253771206	301	K>E		No	ClinGen gnomAD
rs367853902 CA7939879	303	F>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750837170 CA7939855	308	L>V		No	ClinGen ExAC gnomAD
rs765488602 CA7939854	310	I>N		No	ClinGen ExAC gnomAD
TCGA novel	311	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7939852 rs776708251	312	V>A		No	ClinGen ExAC gnomAD
CA7939851 rs764322281	313	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7939849 rs373943417	316	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA7939848 rs373943417 COSM175653	316	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA394970923 rs1405598167	317	P>H		No	ClinGen gnomAD
CA7939847 rs370534919	317	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1279025704 CA394970920	318	R>G		No	ClinGen TOPMed gnomAD
rs1454677861 CA394970902	319	N>S		No	ClinGen gnomAD
CA394970893 rs1403416617	320	G>R		No	ClinGen TOPMed
CA394970881 rs1191219964	321	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs144503743 CA7939844	321	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7939843 rs141486859	323	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	323	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7939842 rs754621354	326	F>S		No	ClinGen ExAC gnomAD
CA7939839 rs138528971	327	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs199754421 CA7939840 COSM1678889	327	R>W	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA7939838 rs750929453	328	V>I		No	ClinGen ExAC gnomAD
rs1301808424 CA394970791	330	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1343306491 CA394970768	332	D>A		No	ClinGen TOPMed
rs142699224 CA7939835	332	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs142699224 CA394970770	332	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1204013648 CA394970754	333	I>T		No	ClinGen TOPMed
rs760928549 CA7939833	335	S>F		No	ClinGen ExAC gnomAD
CA394970735 rs1428929785	335	S>P		No	ClinGen gnomAD
rs767670575 CA7939831	336	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1236361366 CA394970721	337	Q>E		No	ClinGen TOPMed
rs1394406717 CA394970711	338	I>V		No	ClinGen gnomAD
rs1185399721 CA394970672	341	L>S		No	ClinGen gnomAD
rs188996527 CA7939829	342	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA394970646 rs1238798059	344	D>N		No	ClinGen gnomAD
rs747898472 CA394970631 COSM557076	345	A>S	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA7939827 rs747898472	345	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1278631592 COSM968041 CA394970627	345	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA394970617 rs1567321911	346	R>S		No	ClinGen Ensembl
CA394970609 rs1308582046	347	Y>S		No	ClinGen gnomAD
CA7939826 rs776439998	348	K>E		No	ClinGen ExAC gnomAD
rs375690596 CA7939825	348	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA394970578 CA7939824 rs370181151	349	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA394970568 rs1334982734	350	P>L		No	ClinGen TOPMed
TCGA novel	351	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA279264063 rs1000571195	352	D>E		No	ClinGen Ensembl
rs1446540917 CA394970548	352	D>G		No	ClinGen TOPMed
rs1414391390 CA394970540	353	D>H		No	ClinGen gnomAD
CA7939822 rs140317331	354	I>V		No	ClinGen ESP ExAC gnomAD
rs745328107 CA394970500	356	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs1373532778 COSM170865 CA394970494	357	E>K	large_intestine Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA394970469 rs1169163971	359	L>V		No	ClinGen gnomAD
CA394970426 rs1426164740	362	F>S		No	ClinGen TOPMed gnomAD
rs1426164740 CA394970428	362	F>Y		No	ClinGen TOPMed gnomAD
CA7939820 COSM968039 rs191618493	364	R>C	Variant assessed as Somatic; 0.0 impact. endometrium breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs151053059 CA7939819	364	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7939818 rs151053059	364	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	364	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394970393 rs151053059	364	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1255914665 CA394970371	366	F>C		No	ClinGen gnomAD
CA7939817 rs778175156	366	F>V		No	ClinGen ExAC gnomAD
CA7939816 rs756440745	367	L>P		No	ClinGen ExAC gnomAD
CA394970357 rs1567321833	368	S>G		No	ClinGen Ensembl
CA279264033 rs767324232	368	S>N		No	ClinGen Ensembl
TCGA novel	369	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394970314 rs1252210326	371	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs767762915 CA7939814	371	A>T		No	ClinGen ExAC gnomAD
CA394970313 rs1252210326	371	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1224735515 CA394970207	373	K>Q		No	ClinGen TOPMed
CA394970179 rs267604437	376	S>C		No	ClinGen gnomAD
rs267604437 CA279261356	376	S>F		No	ClinGen gnomAD
TCGA novel	378	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394970161 rs1348030315	379	E>*		No	ClinGen TOPMed
rs964040950 CA279261355	379	E>G		No	ClinGen Ensembl
CA7939792 rs761723871	380	I>F		No	ClinGen ExAC TOPMed gnomAD
rs753801202 CA7939791	382	K>N		No	ClinGen ExAC gnomAD
rs763966787 CA7939790	384	W>R		No	ClinGen ExAC TOPMed gnomAD
CA7939789 rs760471673	385	D>H		No	ClinGen ExAC TOPMed gnomAD
CA7939788 rs369392697	387	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs894661160 CA279261303	388	L>R		No	ClinGen TOPMed
CA394970093 rs1206010520	389	V>G		No	ClinGen gnomAD
CA7939784 rs750027373	390	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs556270369 CA279261292	390	K>T		No	ClinGen TOPMed gnomAD
CA7939783 rs773770686	391	Q>E		No	ClinGen ExAC gnomAD
TCGA novel	391	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1368238526 CA394970075	392	L>H		No	ClinGen gnomAD
rs770466958 CA7939780	392	L>V		No	ClinGen ExAC gnomAD
CA7939778 CA394970072 rs147887176	393	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA7939777 rs147887176	393	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA394970068 rs1157972265	394	G>R		No	ClinGen TOPMed gnomAD
rs1436899305 CA394970055	395	K>N		No	ClinGen gnomAD
CA394970045 rs1289828491	397	F>L		No	ClinGen TOPMed
CA394970037 rs1173622544	398	N>D		No	ClinGen gnomAD
rs755292330 CA394970031	398	N>K		No	ClinGen ExAC TOPMed gnomAD
rs747250817 CA7939771 COSM2129699	399	V>I	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA7939768 rs144908632	401	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM212941 CA7939767 rs144908632	401	V>I	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1186341114 CA394970011	402	F>S		No	ClinGen gnomAD
CA7939766 rs375806573	404	K>R		No	ClinGen ExAC gnomAD
CA7939765 rs752535274	405	E>A		No	ClinGen ExAC TOPMed gnomAD
rs865877821 CA279261238	405	E>K		No	ClinGen Ensembl
CA279261228 rs752535274	405	E>V		No	ClinGen ExAC TOPMed gnomAD
CA7939764 rs767267331	406	K>N		No	ClinGen ExAC gnomAD
CA394969975 rs774036878	407	D>E		No	ClinGen ExAC TOPMed gnomAD
CA394969977 rs1475173151	407	D>G		No	ClinGen gnomAD
CA7939763 rs759174666	407	D>N		No	ClinGen ExAC gnomAD
rs765889720 CA7939761	408	V>I	Variant assessed as Somatic; 0.0006006 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs558417674 CA279261175	411	M>K		No	ClinGen Ensembl
TCGA novel	411	M>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7939730 rs541369003	414	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA279259269 rs541369003	414	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs139748181 CA7939729	415	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139748181 CA279259264	415	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1234380634 CA394969896	417	S>F		No	ClinGen gnomAD
TCGA novel	418	K>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394969873 rs1437129855	420	C>*		No	ClinGen gnomAD
CA394969877 rs1182520195	420	C>G		No	ClinGen gnomAD
rs367692063 CA7939728	422	M>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1270075100 CA394969853	423	L>P		No	ClinGen TOPMed
rs1335106004 CA394969849	424	F>L		No	ClinGen gnomAD
CA394969840 rs1226249606	425	P>S		No	ClinGen gnomAD
rs1426784099 CA394969835	426	L>V		No	ClinGen TOPMed
CA7939724 rs370774858	429	E>D		No	ClinGen ExAC gnomAD
CA7939725 rs758137761	429	E>G		No	ClinGen ExAC gnomAD
CA394969816 rs1159297997 COSM223829	429	E>K	Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs764924755 CA7939723 COSM1478595	430	L>F	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed
CA7939722 rs150026846	434	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs987530983 CA279259210	434	Y>H		No	ClinGen TOPMed
CA394969775 rs1386024485	435	Q>E		No	ClinGen TOPMed
CA279259194 rs1023305091	436	N>K		No	ClinGen TOPMed gnomAD
rs764688950 CA394969754	438	S>A		No	ClinGen ExAC TOPMed gnomAD
CA7939720 rs764688950	438	S>P		No	ClinGen ExAC TOPMed gnomAD
CA279259189 rs189278427	439	T>K		No	ClinGen 1000Genomes
CA394969742 rs1596576519	440	I>F		No	ClinGen Ensembl
CA7939719 rs761067553	440	I>T		No	ClinGen ExAC gnomAD
rs775966813 CA7939718	441	I>F		No	ClinGen ExAC gnomAD
rs1316468746 CA394969731	442	I>V		No	ClinGen TOPMed
rs772316367 CA7939717	443	A>D		No	ClinGen ExAC TOPMed gnomAD
VAR_039939 rs11648131 CA7939714	446	D>N		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs11865916 CA7939713	447	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_039940 rs11865916 CA7939712	447	V>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1194956943 CA394969693	448	T>A		No	ClinGen gnomAD
CA7939711 rs768685735	450	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1249377014 CA394969669	451	D>E		No	ClinGen TOPMed
CA7939710 rs746889157	451	D>V		No	ClinGen ExAC gnomAD
CA7939709 rs779958356	452	I>F		No	ClinGen ExAC gnomAD
rs779958356 CA394969667	452	I>V		No	ClinGen ExAC gnomAD
CA394969644 rs1318332120	455	M>R		No	ClinGen gnomAD
TCGA novel	458	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM968038 CA7939706 rs139805278	459	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA7939707 rs750176775 COSM1237313	459	R>W	Variant assessed as Somatic; 0.0 impact. parathyroid [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA7939703 rs763484471	461	P>L		No	ClinGen ExAC gnomAD
CA394969605 rs763484471	461	P>R		No	ClinGen ExAC gnomAD
rs1261478362 CA394969608	461	P>T		No	ClinGen gnomAD
COSM257702 rs1024699788 CA279259107	462	F>L	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA279259102 rs944950477	464	R>S		No	ClinGen TOPMed gnomAD
CA279259101 rs761308279	465	L>M		No	ClinGen ExAC TOPMed gnomAD
rs753129109 CA7939701	466	F>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	468	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394969559 rs145948559 CA7939699	468	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA7939698 rs201187995	469	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs763137688 CA7939696	472	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs955487089 CA279257915	474	V>A		No	ClinGen Ensembl
CA7939676 VAR_039941 rs4500734	475	L>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs772188386 CA7939674	476	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs556126607 CA7939675	476	Y>H		No	ClinGen 1000Genomes ExAC gnomAD
CA394969474 rs1165193363	480	H>Y		No	ClinGen TOPMed
CA7939673 rs537414446	481	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7939672 rs537414446	481	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA279257875 rs899733025	483	K>R		No	ClinGen Ensembl
rs374024801 CA279257858	484	G>A		No	ClinGen ESP TOPMed
CA7939670 rs749050757	484	G>S		No	ClinGen ExAC gnomAD
TCGA novel	487	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7939668 rs777293349	489	L>V		No	ClinGen ExAC gnomAD
rs747633262 CA7939666	491	S>I		No	ClinGen ExAC gnomAD
CA394969400 rs1169314052	491	S>R		No	ClinGen gnomAD
rs1016890067 CA279257848	492	H>R		No	ClinGen TOPMed gnomAD
rs1330166740 CA394969396	492	H>Y		No	ClinGen TOPMed
CA394969389 rs1373068524	493	I>F		No	ClinGen TOPMed gnomAD
CA394969391 rs1373068524	493	I>V		No	ClinGen TOPMed gnomAD
rs780656770 CA7939665	494	K>*		No	ClinGen ExAC TOPMed gnomAD
CA7939664 rs202032641	495	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA394969371 rs1567317417	496	K>E		No	ClinGen Ensembl
COSM176681 rs752056958 CA7939663	496	K>N	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA7939662 rs766815599	497	I>T		No	ClinGen ExAC gnomAD
CA279257833 rs555406858	499	D>N		No	ClinGen 1000Genomes gnomAD
rs1567317411 CA394969344	500	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs750762171 CA7939660	501	D>G		No	ClinGen ExAC gnomAD
rs773034409 CA394969336	501	D>N		No	ClinGen ExAC gnomAD
CA7939661 rs773034409	501	D>Y		No	ClinGen ExAC gnomAD
CA279257821 rs1000245301	502	E>A		No	ClinGen TOPMed
rs765401925 CA7939659	502	E>D		No	ClinGen ExAC gnomAD
rs980196851 CA279257141	503	L>P		No	ClinGen Ensembl
COSM1518434 CA7939643 rs148051428	504	L>F	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA7939642 rs143609490	506	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs539799189 CA7939640	508	Q>*		No	ClinGen 1000Genomes ExAC gnomAD
rs539799189 CA7939639	508	Q>K		No	ClinGen 1000Genomes ExAC gnomAD
CA7939638 rs377018491	512	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	513	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	513	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1308363894 CA394969236	514	E>D		No	ClinGen gnomAD
rs752781445 CA7939637	514	E>G		No	ClinGen ExAC
rs1237849706 CA394969229	515	E>D		No	ClinGen TOPMed gnomAD
rs868443922 CA279257115	515	E>K		No	ClinGen Ensembl
TCGA novel	516	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7939636 rs766247428	516	V>M		No	ClinGen ExAC gnomAD
CA7939635 rs374534761	517	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA394969178 rs1291007715	523	V>L		No	ClinGen gnomAD
rs769626085 CA7939633	524	P>A		No	ClinGen ExAC TOPMed gnomAD
rs768109168 CA279257098 COSM557078	524	P>L	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs769626085 CA394969174	524	P>T		No	ClinGen ExAC TOPMed gnomAD
rs540790184 CA7939631 CA279257093	525	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs376735557 CA7939632	525	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1455942190 CA394969161	526	M>T		No	ClinGen gnomAD
VAR_039942 rs9652589 CA7939630	527	R>K		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7939629 VAR_039943 rs9652588	529	G>E		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA279257084 rs147060285	532	E>K		No	ClinGen ESP TOPMed gnomAD
CA7939628 rs779517495	533	Q>*		No	ClinGen ExAC gnomAD
CA394969108 rs772499036	534	Q>*		No	ClinGen ExAC TOPMed
rs772499036 CA7939627	534	Q>K		No	ClinGen ExAC TOPMed
CA7939626 rs141680096	535	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA394969079 rs1349909260	538	L>R		No	ClinGen gnomAD
TCGA novel	539	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756352839 CA7939621	539	E>K		No	ClinGen ExAC gnomAD
rs756352839 CA394969078	539	E>Q		No	ClinGen ExAC gnomAD
CA7939619 rs767601860	541	M>I		No	ClinGen ExAC TOPMed gnomAD
CA394969054 rs1297348119	542	T>A		No	ClinGen gnomAD
CA394969052 rs1415856185	542	T>N		No	ClinGen TOPMed
TCGA novel	543	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs139010693 CA7939617	543	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA7939618 rs758333097	543	K>R		No	ClinGen ExAC TOPMed gnomAD
CA279257029 rs374255958 CA394969037	544	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA7939615 rs149748368	545	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA394969028 rs1380327184	546	S>F		No	ClinGen TOPMed
CA279257019 rs945830288	548	L>M		No	ClinGen Ensembl
rs776362215 CA7939614	549	E>K		No	ClinGen ExAC gnomAD
CA394969006 rs913063989	550	E>*		No	ClinGen TOPMed gnomAD
rs763787161 CA7939613	550	E>A		No	ClinGen ExAC gnomAD
CA279257018 rs913063989	550	E>K		No	ClinGen TOPMed gnomAD
rs763787161 CA394969003	550	E>V		No	ClinGen ExAC gnomAD
CA7939612 rs535617333	551	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7939610 rs139668298	552	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7939609 rs139668298	552	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139668298 CA7939608	552	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1214131803 CA394968986	553	G>A		No	ClinGen TOPMed gnomAD
CA7939606 rs778257621	560	E>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA279256992 rs377476920	560	E>K		No	ClinGen ESP
CA7939604 rs150620991	562	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs748374018 CA7939603	563	V>A		No	ClinGen ExAC gnomAD
CA279256947 rs200477918	564	V>A		No	ClinGen 1000Genomes
CA7939601 rs755098526	564	V>L		No	ClinGen ExAC gnomAD
rs755098526 CA394968918	564	V>M		No	ClinGen ExAC gnomAD
rs1356672538 CA394968911	565	V>A		No	ClinGen TOPMed gnomAD
rs751554272 CA7939600	565	V>L		No	ClinGen ExAC gnomAD
rs1334147942 CA394968909	566	A>S		No	ClinGen gnomAD
CA394968908 rs1334147942	566	A>T		No	ClinGen gnomAD
CA394968877 rs1482931308	570	G>A		No	ClinGen Ensembl
rs914835865 CA279256921	572	P>R		No	ClinGen TOPMed
CA394968867 rs1422972169	572	P>S		No	ClinGen TOPMed
CA7939595 rs534981803	573	V>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA394968864 rs1398777831	573	V>M		No	ClinGen gnomAD
CA7939594 rs753674125	578	P>L		No	ClinGen ExAC gnomAD
rs1015975167 CA279256908	580	V>G		No	ClinGen Ensembl
rs763875105 CA7939593	580	V>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	581	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7939591 rs775226268	582	E>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	584	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394968780 rs1362015158	585	L>Q		No	ClinGen TOPMed
rs767015401 CA7939590	585	L>W		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q8N807

3 regional properties for Q8N807

Type	Name	Position	InterPro Accession
domain	NADH-Ubiquinone oxidoreductase (complex I), chain 5 N-terminal	71 - 121	IPR001516
domain	NADH:quinone oxidoreductase/Mrp antiporter, membrane subunit	137 - 418	IPR001750
domain	NADH dehydrogenase subunit 5, C-terminal	425 - 604	IPR010934

Functions

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

1 GO annotations of cellular component

Name	Definition
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).

1 GO annotations of molecular function

Name	Definition
protein disulfide isomerase activity	Catalysis of the rearrangement of both intrachain and interchain disulfide bonds in proteins.

3 GO annotations of biological process

Name	Definition
germ cell migration	The orderly movement of a cell specialized to produce haploid gametes through the embryo from its site of production to the place where the gonads will form.
protein folding	The process of assisting in the covalent and noncovalent assembly of single chain polypeptides or multisubunit complexes into the correct tertiary structure.
spermatid development	The process whose specific outcome is the progression of a spermatid over time, from its formation to the mature structure.

16 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q2KIL5	PDIA5	Protein disulfide-isomerase A5	Bos taurus (Bovine)	PR
Q15084	PDIA6	Protein disulfide-isomerase A6	Homo sapiens (Human)	PR
Q13087	PDIA2	Protein disulfide-isomerase A2	Homo sapiens (Human)	PR
Q921X9	Pdia5	Protein disulfide-isomerase A5	Mus musculus (Mouse)	PR
Q922R8	Pdia6	Protein disulfide-isomerase A6	Mus musculus (Mouse)	PR
Q5I0H9	Pdia5	Protein disulfide-isomerase A5	Rattus norvegicus (Rat)	PR
Q63081	Pdia6	Protein disulfide-isomerase A6	Rattus norvegicus (Rat)	PR
Q10N04	PDIL5-1	Protein disulfide isomerase-like 5-1	Oryza sativa subsp japonica (Rice)	PR
Q67UF5	PDIL2-3	Protein disulfide isomerase-like 2-3	Oryza sativa subsp japonica (Rice)	PR
Q5WA72	PDIL1-5	Protein disulfide isomerase-like 1-5	Oryza sativa subsp japonica (Rice)	PR
Q17770	pdi-2	Protein disulfide-isomerase 2	Caenorhabditis elegans	PR
Q9MAU6	PDIL2-2	Protein disulfide-isomerase like 2-2	Arabidopsis thaliana (Mouse-ear cress)	PR
Q8GYD1	PDIL5-1	Protein disulfide-isomerase 5-1	Arabidopsis thaliana (Mouse-ear cress)	PR
O48773	PDIL2-3	Protein disulfide-isomerase 2-3	Arabidopsis thaliana (Mouse-ear cress)	PR
A3KPF5	PDIL1-5	Protein disulfide isomerase-like 1-5	Arabidopsis thaliana (Mouse-ear cress)	PR
Q66GQ3	PDIL1-6	Protein disulfide isomerase-like 1-6	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MDLLWMPLLL	VAACVSAVHS	SPEVNAGVSS	IHITKPVHIL	EERSLLVLTP	AGLTQMLNQT
70	80	90	100	110	120
RFLMVLFHNP	SSKQSRNLAE	ELGKAVEIMG	KGKNGIGFGK	VDITIEKELQ	QEFGITKAPE
130	140	150	160	170	180
LKLFFEGNRS	EPISCKGVVE	SAALVVWLRR	QISQKAFLFN	SSEQVAEFVI	SRPLVIVGFF
190	200	210	220	230	240
QDLEEEVAEL	FYDVIKDFPE	LTFGVITIGN	VIGRFHVTLD	SVLVFKKGKI	VNRQKLINDS
250	260	270	280	290	300
TNKQELNRVI	KQHLTDFVIE	YNTENKDLIS	ELHIMSHMLL	FVSKSSESYG	IIIQHYKLAS
310	320	330	340	350	360
KEFQNKILFI	LVDADEPRNG	RVFKYFRVTE	VDIPSVQILN	LSSDARYKMP	SDDITYESLK
370	380	390	400	410	420
KFGRSFLSKN	ATKHQSSEEI	PKYWDQGLVK	QLVGKNFNVV	VFDKEKDVFV	MFYAPWSKKC
430	440	450	460	470	480
KMLFPLLEEL	GRKYQNHSTI	IIAKIDVTAN	DIQLMYLDRY	PFFRLFPSGS	QQAVLYKGEH
490	500	510	520	530	540
TLKGFSDFLE	SHIKTKIEDE	DELLSVEQNE	VIEEEVLAEE	KEVPMMRKGL	PEQQSPELEN
550	560	570	580
MTKYVSKLEE	PAGKKKTSEE	VVVVVAKPKG	PPVQKKKPKV	KEEL