AiPD: Autoinhibited Protein Database

Q6NZY4

Gene name	ZCCHC8
Protein name	Zinc finger CCHC domain-containing protein 8
Names	TRAMP-like complex RNA-binding factor ZCCHC8
Species	Homo sapiens (Human)
KEGG Pathway	hsa:55596
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

452-535 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

452-535 (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

9 structures for Q6NZY4

Entry ID	Method	Resolution	Chain	Position	Source
5LXR	X-ray	200 A	B	285-324	PDB
5LXY	X-ray	285 A	C/D/F/H/J/L/N	285-324	PDB
6C90	X-ray	220 A	B	659-707	PDB
7S7B	EM	406 A	B/F	1-707	PDB
7S7C	EM	362 A	B/F	1-707	PDB
7Z4Y	EM	450 A	A/C	41-337	PDB
7Z4Z	EM	400 A	A/C	41-337	PDB
7Z52	EM	340 A	A	1-707	PDB
AF-Q6NZY4-F1	Predicted				AlphaFoldDB

519 variants for Q6NZY4

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1957578325 RCV001330759	170	G>R	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 [ClinVar]	Yes	ClinVar dbSNP
rs1317757765 CA482208644 VAR_083448 RCV000856725	186	P>L	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 Variant assessed as Somatic; 0.0 impact. PFBMFT5; decreased levels of mature TERC in patient cells consistent with impaired function in RNA processing; decreased levels of mutant protein in patient cells [ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen ClinVar NCI-TCGA dbSNP gnomAD UniProt
CA6846155 RCV002560279 RCV001200884 rs369211892	496	T>I	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1474618392 CA482211114	2	A>T		No	ClinGen gnomAD
CA244760611 rs568917225	2	A>V		No	ClinGen Ensembl
rs1254937814 CA482211103	3	A>T		No	ClinGen TOPMed gnomAD
rs1026944373 CA244760609	3	A>V		No	ClinGen TOPMed
CA6846549 rs776125502	5	V>L		No	ClinGen ExAC gnomAD
CA482211084 rs776125502	5	V>M		No	ClinGen ExAC gnomAD
rs1294306868 CA482211055	8	G>S		No	ClinGen TOPMed
rs1204279997 CA482211036	10	L>I		No	ClinGen gnomAD
rs554018062 CA244760606	10	L>P		No	ClinGen 1000Genomes gnomAD
CA482211011 rs1233939328	12	L>F		No	ClinGen gnomAD
rs1354953612 CA482211009	12	L>H		No	ClinGen gnomAD
CA482210992 rs1593340436	13	F>C		No	ClinGen Ensembl
CA244760605 rs770371699	13	F>L		No	ClinGen ExAC gnomAD
CA6846547 rs369490516	14	E>A		No	ClinGen ESP ExAC gnomAD
TCGA novel	14	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs975403407 CA244760601	15	P>A		No	ClinGen TOPMed gnomAD
rs375493553 CA244760599	15	P>L		No	ClinGen ESP TOPMed gnomAD
rs975403407 CA482210975	15	P>S		No	ClinGen TOPMed gnomAD
TCGA novel	16	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA482210950 rs1566311457	17	D>G		No	ClinGen Ensembl
rs994566329 CA244760593	18	H>N		No	ClinGen Ensembl
rs1396557640 CA482210926	19	P>R		No	ClinGen gnomAD
rs749717942 CA6846544	20	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1019691846 CA244760588	22	S>L		No	ClinGen TOPMed
rs1419238938 CA482210863	24	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA482210864 rs1419238938	24	P>R		No	ClinGen TOPMed gnomAD
rs1160667005 CA482210868	24	P>T		No	ClinGen gnomAD
CA6846542 rs756361098	25	K>R		No	ClinGen ExAC TOPMed gnomAD
CA244760583 rs1008499717	26	P>S		No	ClinGen TOPMed gnomAD
rs781440041 CA6846540	29	T>S		No	ClinGen ExAC gnomAD
CA6846539 rs757375787	30	R>G		No	ClinGen ExAC gnomAD
rs1271278021 CA482210773	31	F>L		No	ClinGen gnomAD
rs751661789 CA6846538	32	K>E		No	ClinGen ExAC gnomAD
CA6846535 rs752606373	32	K>N		No	ClinGen ExAC gnomAD
CA6846537 rs762788276	32	K>R		No	ClinGen ExAC gnomAD
CA6846536 rs762788276	32	K>T		No	ClinGen ExAC gnomAD
CA482210762 rs1566311334	33	D>H		No	ClinGen Ensembl
CA482210752 rs1389440104	34	D>N		No	ClinGen gnomAD
TCGA novel	35	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs535714318 CA244760565	37	D>Y		No	ClinGen 1000Genomes gnomAD
rs759200524 CA6846533	38	E>K		No	ClinGen ExAC TOPMed gnomAD
CA482210690 rs1290098713	39	E>K		No	ClinGen TOPMed gnomAD
rs1468036472 CA482210685	39	E>V		No	ClinGen TOPMed
CA6846531 rs776216914	40	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA482210647 rs893027662	42	N>K		No	ClinGen TOPMed
rs1362826305 CA482210643	43	G>E		No	ClinGen gnomAD
CA6846529 rs760226500	45	G>R		No	ClinGen ExAC gnomAD
rs760226500 CA482210629	45	G>S		No	ClinGen ExAC gnomAD
rs1194658879 CA482210620	46	D>N		No	ClinGen gnomAD
CA482210612 rs769270296	47	A>P		No	ClinGen ExAC TOPMed gnomAD
CA6846527 rs769270296	47	A>S		No	ClinGen ExAC TOPMed gnomAD
CA6846526 rs368512751	47	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1260245150 CA482210584	50	R>W		No	ClinGen gnomAD
CA6846525 rs775934027	51	E>A		No	ClinGen ExAC gnomAD
rs1305626477 CA482210577	51	E>K		No	ClinGen TOPMed
rs1331386912 CA482210566	52	R>Q		No	ClinGen Ensembl
rs1303803663 CA482210558	53	L>F		No	ClinGen gnomAD
rs1233362975 CA482210551	54	R>W		No	ClinGen gnomAD
rs1368685788 CA482210542	55	Q>*		No	ClinGen gnomAD
CA6846524 rs770001764	55	Q>R		No	ClinGen ExAC gnomAD
rs1280717329 CA482210532	56	C>Y		No	ClinGen TOPMed
rs1383552028 CA482210526	57	E>K		No	ClinGen gnomAD
CA6846522 rs781609752	58	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1286641657 CA482210517	58	E>K		No	ClinGen gnomAD
CA482210500 rs1375692015	60	I>V		No	ClinGen gnomAD
rs1454140307 CA482210491	61	E>Q		No	ClinGen gnomAD
CA6846520 rs747147354	64	R>C		No	ClinGen ExAC gnomAD
CA244760539 rs866586054	64	R>H		No	ClinGen TOPMed
rs866586054 CA482210462	64	R>L		No	ClinGen TOPMed
CA6846521 rs747147354	64	R>S		No	ClinGen ExAC gnomAD
CA244760529 rs868811989	66	E>*		No	ClinGen TOPMed gnomAD
rs868811989 CA244760531	66	E>K		No	ClinGen TOPMed gnomAD
rs1234570703 CA607966452	67	N>S		No	ClinGen TOPMed gnomAD
rs1234570703 CA607966453	67	N>T		No	ClinGen TOPMed gnomAD
CA482210386 rs1334870292	70	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6846504 rs777124497	71	K>N		No	ClinGen ExAC gnomAD
TCGA novel	72	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1593338023 CA482210361	72	R>Q		No	ClinGen Ensembl
TCGA novel	73	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs374232921 CA6846503	76	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	77	L>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA482210294 rs747163693	79	R>L		No	ClinGen ExAC TOPMed gnomAD
CA6846502 rs747163693	79	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs777924103 CA6846501	80	P>L		No	ClinGen ExAC gnomAD
rs748149428 CA6846499	81	S>N		No	ClinGen ExAC gnomAD
CA244758473 rs867589711	82	G>*		No	ClinGen Ensembl
CA6846487 rs200095489	84	L>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA6846486 rs771364943	87	D>H		No	ClinGen ExAC TOPMed gnomAD
CA6846485 rs771364943	87	D>N		No	ClinGen ExAC TOPMed gnomAD
rs561900919 CA6846484	88	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1366100893 CA482210054	88	T>I		No	ClinGen TOPMed
rs561900919 CA482210058	88	T>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs866261963 CA244758465	92	G>*		No	ClinGen Ensembl
rs1256015604 CA482209999	93	P>L		No	ClinGen gnomAD
rs957281475 CA244758462	94	I>L		No	ClinGen TOPMed gnomAD
rs1410414236 CA482209970	96	Q>H		No	ClinGen gnomAD
rs1469847748 CA482209932	100	M>I		No	ClinGen gnomAD
CA482209926 rs1378180989	101	N>S		No	ClinGen gnomAD
CA244758458 rs1033938261	102	N>S		No	ClinGen TOPMed
rs1195283652 CA482209905	103	A>V		No	ClinGen TOPMed gnomAD
CA482209891 rs1566302293	104	I>M		No	ClinGen Ensembl
CA482209897 rs1432353156	104	I>V		No	ClinGen TOPMed
CA482209407 rs1593328210	106	K>N		No	ClinGen Ensembl
TCGA novel	115	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780760147 CA6846472	116	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1394377630 CA482209227	127	Q>*		No	ClinGen TOPMed gnomAD
rs1394377630 CA482209229	127	Q>K		No	ClinGen TOPMed gnomAD
CA6846470 rs751100342	129	N>K		No	ClinGen ExAC gnomAD
TCGA novel	129	N>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA482209207 rs1189345673	129	N>S		No	ClinGen gnomAD
rs1390156633 CA482209198	130	D>V		No	ClinGen TOPMed
TCGA novel	133	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	136	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1460554119 CA482209147	136	F>V		No	ClinGen gnomAD
CA6846449 rs369425709	142	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA6846447 rs750756892	143	S>P		No	ClinGen ExAC gnomAD
rs1295229779 CA482209075	144	S>N		No	ClinGen gnomAD
CA482209042 rs1415552850	148	E>Q		No	ClinGen gnomAD
CA244757845 rs796079777	152	K>E		No	ClinGen TOPMed gnomAD
CA482209000 rs1444198497	152	K>N		No	ClinGen gnomAD
CA482208974 rs1437400101	155	E>D		No	ClinGen TOPMed
CA6846445 rs761962777	157	C>G		No	ClinGen ExAC gnomAD
rs1464027856 CA482208961	157	C>Y		No	ClinGen gnomAD
CA482208952 rs1179950522	158	A>G		No	ClinGen TOPMed
rs1419307468 CA482208954	158	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs377098148 CA6846444	159	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	161	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA244757841 rs764102287	162	N>H		No	ClinGen TOPMed gnomAD
rs763065621 CA6846442	163	K>M		No	ClinGen ExAC TOPMed gnomAD
CA482208904 rs775537278	164	E>*		No	ClinGen ExAC TOPMed gnomAD
rs775537278 CA6846441	164	E>K		No	ClinGen ExAC TOPMed gnomAD
CA6846440 rs769690467	165	A>V		No	ClinGen ExAC TOPMed gnomAD
CA482208878 rs1246742366	167	S>G		No	ClinGen TOPMed gnomAD
CA482208798 rs758101860	169	V>I		No	ClinGen ExAC gnomAD
rs758101860 CA6846433	169	V>L		No	ClinGen ExAC gnomAD
rs1193170961 CA482208780	171	S>G		No	ClinGen TOPMed
rs1255517667 CA482208722	177	N>K		No	ClinGen gnomAD
CA6846432 rs747727213	177	N>Y		No	ClinGen ExAC gnomAD
CA6846431 rs778420453	178	F>L		No	ClinGen ExAC gnomAD
rs1488226334 CA482208707	179	C>Y		No	ClinGen gnomAD
rs768621947 CA244755979	180	L>V		No	ClinGen Ensembl
CA482208682 rs1263782073	182	K>E		No	ClinGen gnomAD
rs1372550364 CA482208652	185	Q>H		No	ClinGen gnomAD
TCGA novel	185	Q>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1373051725 CA482208619	189	N>S		No	ClinGen gnomAD
rs767800616 CA6846428	194	L>F		No	ClinGen ExAC gnomAD
TCGA novel	195	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA482208548 rs1387897053	197	G>V		No	ClinGen gnomAD
rs371895382 CA482208503	202	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA482208506 rs879130438	202	K>R		No	ClinGen TOPMed
CA244755967 rs879130438	202	K>T		No	ClinGen TOPMed
rs748712552 CA6846412	204	H>Q		No	ClinGen ExAC gnomAD
TCGA novel	205	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757745585 CA6846410	208	S>G		No	ClinGen ExAC gnomAD
CA6846409 rs752904701	210	I>L		No	ClinGen ExAC
CA244755895 rs752904701	210	I>V		No	ClinGen ExAC
rs1172580064 CA482208422	212	S>C		No	ClinGen gnomAD
rs758638063 CA6846407	214	E>Q		No	ClinGen ExAC gnomAD
rs368028567 CA6846406 CA244755883	215	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA482208391 rs1191723680	216	Q>K		No	ClinGen gnomAD
rs765264913 CA6846405	217	E>Q		No	ClinGen ExAC gnomAD
CA482208367 rs1256529089	219	Q>K		No	ClinGen gnomAD
CA482208355 rs1342783942	220	V>E		No	ClinGen gnomAD
rs1199725356 CA482208358	220	V>I		No	ClinGen gnomAD
CA482208338 rs1316696332	222	A>E		No	ClinGen gnomAD
CA244755874 rs994123201	222	A>T		No	ClinGen gnomAD
CA482208333 rs1416173360	223	K>Q		No	ClinGen gnomAD
CA482208320 rs1355760574	224	R>M		No	ClinGen gnomAD
TCGA novel	224	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA244755737 rs942674499	225	P>R		No	ClinGen gnomAD
CA482208300 rs1228254988	226	K>R		No	ClinGen TOPMed
CA482208255 rs911132535	231	N>I		No	ClinGen TOPMed gnomAD
CA244755735 rs911132535	231	N>S		No	ClinGen TOPMed gnomAD
TCGA novel	231	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779422735 CA6846394	234	S>F		No	ClinGen ExAC gnomAD
CA6846393 rs771436571	239	M>I		No	ClinGen ExAC gnomAD
rs747459224 CA6846392	240	K>N		No	ClinGen ExAC gnomAD
CA387053389 rs1400291560	241	D>G		No	ClinGen TOPMed gnomAD
CA387053373 rs1463117847	242	C>Y		No	ClinGen gnomAD
CA244755719 rs983930031	243	P>L		No	ClinGen Ensembl
rs758726133 CA6846390	244	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1391699162 CA387053352	244	M>V		No	ClinGen TOPMed gnomAD
rs748605520 CA6846372	246	R>Q		No	ClinGen ExAC gnomAD
rs1158994437 CA387053271	246	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs370938843 CA6846370	248	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs370938843 CA387053245	248	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs970422314 CA244755550	250	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs749420661 CA6846369	250	R>L		No	ClinGen ExAC gnomAD
rs749420661 CA387053222	250	R>Q		No	ClinGen ExAC gnomAD
rs756301515 CA6846367	256	K>R		No	ClinGen ExAC gnomAD
CA6846366 rs750505542	257	E>G		No	ClinGen ExAC TOPMed gnomAD
rs767615811 CA6846364	259	M>I		No	ClinGen ExAC gnomAD
CA6846363 rs757134167	262	C>S		No	ClinGen ExAC gnomAD
CA387053049 rs757134167	262	C>Y		No	ClinGen ExAC gnomAD
rs751370072 CA6846362	263	G>R		No	ClinGen ExAC gnomAD
rs554668807 CA6846360	264	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA6846358 rs542020110	265	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6846359 rs542020110	265	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1325836155 CA387053026	266	N>I		No	ClinGen gnomAD
TCGA novel	274	Y>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV001337276 rs148867026 CA6846356	276	A>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1358313611 CA387052934	278	E>V		No	ClinGen gnomAD
CA6846353 rs774799393	279	V>E		No	ClinGen ExAC TOPMed
CA6846354 rs370568988	279	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6846355 rs370568988	279	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376189431 CA6846350	280	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA6846351 rs768861686	280	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs780471461 CA6846349	283	F>C		No	ClinGen ExAC gnomAD
CA387052903 rs780471461	283	F>S		No	ClinGen ExAC gnomAD
TCGA novel	290	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387052858 rs746007865	290	V>F		No	ClinGen ExAC TOPMed gnomAD
CA6846347 rs746007865	290	V>I		No	ClinGen ExAC TOPMed gnomAD
CA6846334 rs769184093	293	E>D		No	ClinGen ExAC gnomAD
CA387052790 rs1566291680	293	E>G		No	ClinGen Ensembl
rs749724899 CA6846333	294	E>K		No	ClinGen ExAC TOPMed gnomAD
rs775988353 CA387052758	296	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs775988353 CA6846332	296	Q>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	296	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387052709 rs1483754954	300	G>A	Variant assessed as Somatic; 4.644e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1566291619 CA387052675	303	D>E		No	ClinGen Ensembl
CA387052665 rs1199125820	304	K>N		No	ClinGen TOPMed
CA6846330 rs373244714	304	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA6846329 rs781446496	304	K>R		No	ClinGen ExAC TOPMed gnomAD
CA6846328 rs369253915	309	F>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1258776330 CA387052591	310	I>M		No	ClinGen gnomAD
rs1218162115 CA387052574	311	Y>C		No	ClinGen gnomAD
rs758343951 CA6846325	312	R>Q		No	ClinGen ExAC gnomAD
rs777624068 CA6846326 RCV001344345	312	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
CA387052524 rs1282221188	314	R>G		No	ClinGen gnomAD
CA6846322 rs754640355	314	R>H		No	ClinGen ExAC TOPMed gnomAD
CA387052487 rs1283213131	316	L>V		No	ClinGen gnomAD
rs760150601 CA387052447	318	Y>*		No	ClinGen ExAC gnomAD
rs766023074 CA6846320	318	Y>C		No	ClinGen ExAC gnomAD
rs1593318060 CA387052457	318	Y>D		No	ClinGen Ensembl
CA6846316 rs763483581	321	G>A		No	ClinGen ExAC gnomAD
rs1593318018 CA387052389	322	W>G		No	ClinGen Ensembl
CA387052354 rs1422882978	324	K>R		No	ClinGen gnomAD
TCGA novel	326	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6846314 rs759871715	328	L>M		No	ClinGen ExAC TOPMed gnomAD
CA387052253 rs1442077871	331	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA244755376 rs565612846	335	L>V		No	ClinGen gnomAD
CA387052207 rs1222504420	336	Y>C		No	ClinGen gnomAD
rs1287455638 CA387052178	338	G>A		No	ClinGen gnomAD
rs1321366749 CA387052183	338	G>R		No	ClinGen gnomAD
TCGA novel	342	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387052064 rs1245243901	342	T>S		No	ClinGen gnomAD
rs763575383 CA6846297	344	G>E		No	ClinGen ExAC TOPMed gnomAD
CA387052053 rs1219098131	344	G>R		No	ClinGen gnomAD
rs753218541 CA6846296	348	V>I		No	ClinGen ExAC gnomAD
rs765811286 CA6846295	349	G>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	349	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1413818682 CA387051970	351	I>V		No	ClinGen TOPMed
TCGA novel	352	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	353	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387051935 rs1301350937	353	Q>R		No	ClinGen TOPMed gnomAD
rs760031265 CA6846294	355	K>R		No	ClinGen ExAC TOPMed gnomAD
rs760031265 CA387051904	355	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA387051878 rs1365021277	357	V>I		No	ClinGen gnomAD
rs1400262196 CA387051849	360	D>N		No	ClinGen gnomAD
rs771124830 CA6846292	360	D>V		No	ClinGen ExAC TOPMed gnomAD
rs760885960 CA6846291	362	S>*		No	ClinGen ExAC gnomAD
CA387051817 rs1452245788	365	V>I		No	ClinGen gnomAD
rs376827715 CA244754966	366	N>I		No	ClinGen ESP TOPMed gnomAD
CA387051806 rs1318890607	366	N>K		No	ClinGen TOPMed gnomAD
CA387051792 rs1379950075	368	P>L		No	ClinGen gnomAD
CA387051795 rs1459181908	368	P>T		No	ClinGen TOPMed gnomAD
TCGA novel	376	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387051714 rs1223554758	380	D>G		No	ClinGen TOPMed
CA387051185 rs1198800051	381	E>K		No	ClinGen gnomAD
rs1466127580 CA387051176	382	W>R		No	ClinGen gnomAD
rs200751258 CA244754356	384	I>N		No	ClinGen ExAC gnomAD
CA6846267 rs200751258	384	I>T		No	ClinGen ExAC gnomAD
rs774410602 CA6846266	385	F>C		No	ClinGen ExAC gnomAD
rs775167478 CA6846263	388	I>T		No	ClinGen ExAC TOPMed gnomAD
rs371516498 CA6846264	388	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA387051132 rs1404622670	389	P>S		No	ClinGen gnomAD
rs1277889477 CA387051125	390	M>V		No	ClinGen TOPMed
rs769589035 CA6846262	392	A>S		No	ClinGen ExAC TOPMed gnomAD
rs1248555902 CA387051102	393	C>R		No	ClinGen gnomAD
CA387051062 rs1473902293	398	V>L		No	ClinGen gnomAD
CA387051040 rs1368771667	401	N>S		No	ClinGen gnomAD
CA387051017 rs1216477028	404	T>I		No	ClinGen TOPMed
CA387051012 rs1264594893	405	S>F		No	ClinGen TOPMed
CA6846257 rs746587615	405	S>T		No	ClinGen ExAC gnomAD
CA6846255 rs201799696	409	A>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs201799696 CA6846254	409	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1208327925 CA387050950	411	G>V		No	ClinGen TOPMed
rs750790473 CA6846232	412	V>M		No	ClinGen ExAC gnomAD
CA6846231 rs781473813	415	G>D		No	ClinGen ExAC gnomAD
TCGA novel	419	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1566287151 CA387050819	421	S>F		No	ClinGen Ensembl
CA387050827 rs1438756764	421	S>P		No	ClinGen gnomAD
rs751737757 CA6846229	423	S>A		No	ClinGen ExAC gnomAD
CA387050795 rs1323086391	423	S>C		No	ClinGen gnomAD
rs557814149 CA6846228	424	S>I		No	ClinGen 1000Genomes ExAC gnomAD
CA387050774 rs1593314147	425	P>A		No	ClinGen Ensembl
CA387050758 rs1159088251	426	G>D		No	ClinGen gnomAD
TCGA novel	429	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1173795336 CA387050691	431	Q>P		No	ClinGen TOPMed gnomAD
rs1366444824 CA387050675	432	K>T		No	ClinGen gnomAD
CA6846224 rs759328784	437	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs776584825 CA387050588	438	A>G		No	ClinGen ExAC TOPMed gnomAD
rs776584825 CA6846223	438	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1489076250 CA387050585	439	G>R		No	ClinGen gnomAD
CA387050575 rs1593314069	440	S>F		No	ClinGen Ensembl
TCGA novel	442	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773041857 CA6846220	442	A>T		No	ClinGen ExAC gnomAD
rs375394115 CA6846219	442	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA6846216 rs376901092	443	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA244754221 rs565732310	445	E>G		No	ClinGen 1000Genomes
CA6846214 rs781567724	447	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs374932518 CA6846213	449	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs771416498 RCV000239009 CA6846186	450	M>T		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA244748808 rs1011095394	453	P>Q		No	ClinGen Ensembl
rs1334086794 CA387049514	453	P>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA387049496 rs1272740913	454	H>R		No	ClinGen TOPMed gnomAD
rs1466781095 CA387049499	454	H>Y		No	ClinGen gnomAD
CA387049487 rs1230977097	455	G>S		No	ClinGen gnomAD
CA6846184 rs564778717	457	Q>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	459	S>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6846181 rs779084971	460	E>A		No	ClinGen ExAC TOPMed gnomAD
CA6846182 RCV001343268 rs748273332	460	E>K		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA244748798 rs1042900505	462	F>L		No	ClinGen TOPMed
CA387049344 rs1473393269	464	F>S		No	ClinGen gnomAD
TCGA novel	465	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387049316 rs1444737661	466	P>Q		No	ClinGen TOPMed
rs948509701 CA244748793	466	P>S		No	ClinGen TOPMed
CA387049306 rs1182313700	467	P>L		No	ClinGen gnomAD
CA387049308 rs1243120353	467	P>S		No	ClinGen gnomAD
rs1593310109 CA387049289	468	L>F		No	ClinGen Ensembl
rs374121480 CA6846180	469	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA6846179 rs753947796	470	P>A		No	ClinGen ExAC TOPMed gnomAD
rs753947796 CA244748786	470	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6846178 rs766488349	472	T>S		No	ClinGen ExAC gnomAD
rs1228717810 CA387049205	475	L>F		No	ClinGen gnomAD
rs938393266 CA244748776	476	P>S		No	ClinGen TOPMed gnomAD
CA6846176 rs750242474	477	R>G		No	ClinGen ExAC TOPMed gnomAD
rs767163063 CA6846174	477	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA6846175 rs750242474	477	R>W		No	ClinGen ExAC TOPMed gnomAD
CA387049167 rs1233844755	478	G>A		No	ClinGen TOPMed
CA6846173 rs761557735	479	T>I		No	ClinGen ExAC gnomAD
CA6846171 rs763778478	481	P>L		No	ClinGen ExAC TOPMed gnomAD
CA6846168 rs771434537	483	V>I		No	ClinGen ExAC TOPMed gnomAD
rs747457279 CA6846167	485	T>P		No	ClinGen ExAC gnomAD
CA387049068 rs1385034318	486	P>L		No	ClinGen gnomAD
CA387049071 rs1303982202	486	P>S		No	ClinGen TOPMed gnomAD
rs772289483 CA6846166	487	P>S		No	ClinGen ExAC gnomAD
rs772289483 CA6846165	487	P>T		No	ClinGen ExAC gnomAD
CA244748761 rs889642532	489	P>R		No	ClinGen gnomAD
rs779055949 CA6846163	491	G>A		No	ClinGen ExAC gnomAD
CA6846161 rs749380478	492	T>I		No	ClinGen ExAC TOPMed gnomAD
CA244748757 rs749380478	492	T>N		No	ClinGen ExAC TOPMed gnomAD
rs755245037 CA6846162	492	T>P		No	ClinGen ExAC TOPMed gnomAD
CA387049021 rs755245037	492	T>S		No	ClinGen ExAC TOPMed gnomAD
rs373790085 CA6846160	493	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs111823200 CA6846157 RCV000966166	494	P>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs750287912 CA6846158	494	P>S		No	ClinGen ExAC TOPMed gnomAD
CA6846154 rs575153847	499	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA244748744 rs575153847	499	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA387048903 rs1403952459	501	P>R		No	ClinGen gnomAD
rs762526701 CA6846153	502	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA387048880 rs1301743030	503	T>S		No	ClinGen gnomAD
rs1273512529 CA387048867	504	R>I		No	ClinGen TOPMed
rs201164007 CA6846149	510	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1421881915 CA387048792	510	V>L		No	ClinGen gnomAD
rs772612687 CA6846148	512	E>Q		No	ClinGen ExAC gnomAD
CA6846147 rs368211759	513	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA6846145 rs749468647	514	A>S		No	ClinGen ExAC TOPMed gnomAD
rs749468647 CA6846144	514	A>T		No	ClinGen ExAC TOPMed gnomAD
CA6846142 rs564527622 RCV000909995	517	L>P		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs780307861 CA6846143	517	L>V		No	ClinGen ExAC TOPMed gnomAD
rs745937941 CA6846141	521	E>G		No	ClinGen ExAC gnomAD
TCGA novel	521	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	523	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6846139 rs757213035	524	Q>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6846137 rs777488485	526	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs538195616 CA6846138	526	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs758070519 CA6846136	528	W>R		No	ClinGen ExAC gnomAD
rs990324954 CA244748702	530	A>T		No	ClinGen Ensembl
CA387048230 rs1593309688	535	E>D		No	ClinGen Ensembl
rs767978813 CA6846131	535	E>G		No	ClinGen ExAC TOPMed gnomAD
rs753378950 CA6846132	535	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1332977045 CA387048222	536	S>G		No	ClinGen TOPMed
CA387048215 rs1483477089	536	S>T		No	ClinGen gnomAD
CA6846130 rs762319713	537	V>I	Variant assessed as Somatic; 5.437e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA387048198 rs762319713	537	V>L		No	ClinGen ExAC gnomAD
CA6846129 rs774874028	538	N>K		No	ClinGen ExAC gnomAD
TCGA novel	538	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387048160 rs1452273748	539	S>G		No	ClinGen gnomAD
CA6846128 rs763378705	539	S>R		No	ClinGen ExAC TOPMed gnomAD
rs772602978 CA6846126	540	D>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	541	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387048067 rs1566282582	542	D>A		No	ClinGen Ensembl
CA244748677 rs900876792	542	D>N		No	ClinGen gnomAD
rs57096638 RCV000960484 CA6846122	543	V>I		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs57096638 CA6846123	543	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA387048032 rs1260778110	544	P>L		No	ClinGen gnomAD
rs1484227616 CA387048027	545	V>M		No	ClinGen gnomAD
CA6846118 rs150057798	548	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA387048001 rs1259536603	548	P>R		No	ClinGen gnomAD
CA6846117 RCV000968482 rs150057798	548	P>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	551	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6846116 rs200494647	551	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1295331347 CA387047969	553	S>P		No	ClinGen gnomAD
CA6846115 rs370436302	554	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs938733311 CA244748643	556	S>T		No	ClinGen TOPMed
CA6846113 rs757732175	558	P>R		No	ClinGen ExAC gnomAD
CA6846112 rs752147838	560	P>A		No	ClinGen ExAC gnomAD
CA6846110 rs536057037	561	N>K		No	ClinGen 1000Genomes ExAC gnomAD
CA387047910 rs1190841089	562	E>D		No	ClinGen TOPMed gnomAD
rs1171589530 CA387047912	562	E>V		No	ClinGen TOPMed
rs1044413400 CA244748631	564	D>N		No	ClinGen Ensembl
CA6846109 rs775990492	565	L>F		No	ClinGen ExAC gnomAD
rs765381320 CA6846107	566	P>L		No	ClinGen ExAC TOPMed gnomAD
rs759746873 CA6846106	567	V>F		No	ClinGen ExAC TOPMed gnomAD
rs763856281 CA6846105	568	P>L		No	ClinGen ExAC TOPMed gnomAD
rs747060265 CA6846103	572	T>S		No	ClinGen ExAC gnomAD
rs771988539 CA6846101	573	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs1323898919 CA387047845	574	E>K		No	ClinGen TOPMed gnomAD
CA387047834 rs1316294437	575	K>T		No	ClinGen gnomAD
CA387047826 rs1165224271	576	Q>P		No	ClinGen gnomAD
rs748005137 CA6846100	577	T>M		No	ClinGen ExAC gnomAD
rs754606061 CA6846098	579	D>H		No	ClinGen ExAC gnomAD
CA387047807 rs1392176392	579	D>V		No	ClinGen TOPMed gnomAD
TCGA novel	582	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1396091865 CA387047782 CA387047780	583	V>L		No	ClinGen TOPMed gnomAD
rs1459208875 CA387047774	584	P>S		No	ClinGen gnomAD
CA6846095 rs375049593	590	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA6846094 rs181255243	593	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1239458541 CA387047696	595	H>R		No	ClinGen gnomAD
CA244748584 rs780243672	596	A>P		No	ClinGen Ensembl
rs764763017 CA6846093	598	S>G		No	ClinGen ExAC gnomAD
rs1159351934 CA387047672	599	P>S		No	ClinGen TOPMed
rs1436835681 CA387047668	600	D>N		No	ClinGen gnomAD
CA387047656 rs1410549162	601	S>C		No	ClinGen TOPMed
rs758907151 CA6846092	604	T>I		No	ClinGen ExAC gnomAD
rs765590414 CA6846090	605	S>*		No	ClinGen ExAC gnomAD
rs1455625484 CA387047633	605	S>A		No	ClinGen TOPMed
rs765590414 CA6846091	605	S>L		No	ClinGen ExAC gnomAD
rs759708916 CA6846089	606	L>F		No	ClinGen ExAC gnomAD
CA387047623 rs1245861835	607	C>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA387047606 rs1391230786	609	K>R		No	ClinGen TOPMed
rs1566281980 CA387047581	612	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs766491553 CA6846087	613	E>Q		No	ClinGen ExAC gnomAD
CA6846085 rs773278485	615	A>P		No	ClinGen ExAC gnomAD
rs772005024 CA6846084	615	A>V		No	ClinGen ExAC gnomAD
rs748027224 CA6846083	616	P>L		No	ClinGen ExAC TOPMed gnomAD
rs748027224 CA244748557	616	P>R		No	ClinGen ExAC TOPMed gnomAD
rs768532162 CA6846081	617	V>I		No	ClinGen ExAC gnomAD
CA387047544 rs564933559	619	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA6846080 rs564933559	619	T>S		No	ClinGen 1000Genomes ExAC gnomAD
CA387047534 CA6846079 rs779813200	620	E>D		No	ClinGen ExAC gnomAD
rs1327102590 CA387047540	620	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	624	L>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755823723 CA244748542	627	G>D		No	ClinGen ExAC TOPMed gnomAD
rs755823723 CA6846078	627	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1158620221 CA387047488	628	S>G		No	ClinGen gnomAD
rs745374601 CA6846077	628	S>N		No	ClinGen ExAC gnomAD
rs1189763103 CA387047465	630	V>A		No	ClinGen TOPMed gnomAD
rs1200474022 CA387047472	630	V>I	Variant assessed as Somatic; 4.643e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1200474022 CA387047470	630	V>L		No	ClinGen TOPMed gnomAD
rs965098499 CA244748533	632	N>H		No	ClinGen TOPMed gnomAD
rs1266342076 CA387047438	632	N>K		No	ClinGen TOPMed gnomAD
rs1182428988 CA387047434	633	C>G		No	ClinGen TOPMed
rs184370017 CA6846075	637	N>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs184370017 CA6846074	637	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	638	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1167017280 CA387047390	639	G>D		No	ClinGen TOPMed
CA387047343 rs1286896569	646	A>T		No	ClinGen gnomAD
CA387047336 rs1206275013	647	D>H		No	ClinGen TOPMed gnomAD
rs760823188 CA6846069	648	T>I		No	ClinGen ExAC TOPMed gnomAD
CA387047329 rs1593308999	648	T>P		No	ClinGen Ensembl
rs1036214138 CA244748519	649	S>C		No	ClinGen TOPMed gnomAD
CA387047312 rs1225569019	650	P>L		No	ClinGen gnomAD
CA387047317 rs1307606856	650	P>T		No	ClinGen TOPMed
rs1282367907 CA387047310	651	S>P		No	ClinGen gnomAD
CA6846067 rs767541656	652	T>M		No	ClinGen ExAC gnomAD
CA6846068 rs750518928	652	T>P		No	ClinGen ExAC gnomAD
CA387047298 rs768463450	653	A>D		No	ClinGen ExAC gnomAD
rs768463450 CA6846064	653	A>V		No	ClinGen ExAC gnomAD
CA6846062 rs542403695	654	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1229678366 CA387047294	654	T>S		No	ClinGen gnomAD
rs1428224983 CA387047290	655	K>E		No	ClinGen gnomAD
CA387047286 rs1243208600	655	K>N		No	ClinGen TOPMed
CA6846061 rs370019301	655	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs897013136 CA244748498	657	H>R		No	ClinGen Ensembl
rs180778509 CA6846060	658	S>R		No	ClinGen 1000Genomes ExAC gnomAD
CA244748492 rs887430946	662	D>N		No	ClinGen TOPMed
rs139379402 CA387047237	663	M>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139379402 CA6846059 RCV000963674	663	M>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6846058 rs770606298	664	S>N		No	ClinGen ExAC gnomAD
CA387047224 rs1343262466	664	S>R		No	ClinGen TOPMed
CA6846057 rs746480366	665	K>R		No	ClinGen ExAC gnomAD
rs1002996700 CA244748481	667	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs372521431 CA6846056	668	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1456536564 CA387047191	670	I>V		No	ClinGen gnomAD
CA6846055 rs755439188	671	T>M		No	ClinGen ExAC TOPMed gnomAD
CA244748474 rs1063155 VAR_034585	672	P>A		No	ClinGen UniProt Ensembl dbSNP
rs1256237967 CA387047159	674	E>D		No	ClinGen TOPMed
rs1262697678 CA387047131	678	M>T		No	ClinGen gnomAD
TCGA novel	680	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	682	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1423222327 CA387047089	684	M>T		No	ClinGen TOPMed
CA387047092 rs1221913922	684	M>V		No	ClinGen gnomAD
CA6846054 rs754237374	687	R>K		No	ClinGen ExAC gnomAD
rs1185265225 CA387047050	690	S>R		No	ClinGen TOPMed
rs1324658261 CA387047016	694	N>S		No	ClinGen gnomAD
rs944178256 CA244748466	695	S>*		No	ClinGen TOPMed
CA244748453 rs867562358	697	R>*		No	ClinGen gnomAD
rs374767090 CA6846051	697	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1436807245 CA387046997	698	N>D		No	ClinGen TOPMed
rs767700766 CA6846050	698	N>I		No	ClinGen ExAC gnomAD
rs1422080233 CA387046983	700	Q>K		No	ClinGen gnomAD
CA387046961 rs1475358261	702	N>K		No	ClinGen gnomAD
CA6846049 rs761935280	705	A>G		No	ClinGen ExAC TOPMed gnomAD
CA387046941 rs1303535875	705	A>S		No	ClinGen TOPMed

1 associated diseases with Q6NZY4

[MIM: 618674]: Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 5 (PFBMFT5)

A disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other manifestations include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk, particularly myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at onset, and severity are determined by telomere length. PFBMFT5 inheritance is autosomal dominant. {ECO:0000269|PubMed:31488579}. Note=The disease may be caused by variants affecting the gene represented in this entry.

Without disease ID

A disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other manifestations include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk, particularly myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at onset, and severity are determined by telomere length. PFBMFT5 inheritance is autosomal dominant. {ECO:0000269|PubMed:31488579}. Note=The disease may be caused by variants affecting the gene represented in this entry.

2 regional properties for Q6NZY4

Type	Name	Position	InterPro Accession
domain	Zinc finger, CCHC-type	228 - 244	IPR001878
domain	PSP, proline-rich	283 - 335	IPR006568

Functions

		Description
EC Number
Subcellular Localization	Nucleus, nucleoplasm Nucleus	Excluded from nucleolus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
catalytic step 2 spliceosome	A spliceosomal complex that contains three snRNPs, including U5, bound to a splicing intermediate in which the first catalytic cleavage of the 5' splice site has occurred. The precise subunit composition differs significantly from that of the catalytic step 1, or activated, spliceosome, and includes many proteins in addition to those found in the associated snRNPs.
nuclear body	Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
TRAMP complex	A multiprotein complex having distributive polyadenylation activity of a variety of RNA substrates including hypomodified and incorrectly folded tRNAs, pre-snRNAs, pre-snoRNAs, incorrectly spliced or processed pre-mRNAs, cryptic unstable transcripts (CUTs), pre-rRNAs and rRNA fragments released as part of rRNA processing. In S. cerevisiae, the complex consists of either Pap2 (also known as Trf4) or Trf5, Air1 or Air2, and Mtr4, and is involved in RNA 3'-end processing and in RNA surveillance and quality control.

2 GO annotations of molecular function

Name	Definition
RNA binding	Binding to an RNA molecule or a portion thereof.
zinc ion binding	Binding to a zinc ion (Zn).

3 GO annotations of biological process

Name	Definition
mRNA splicing, via spliceosome	The joining together of exons from one or more primary transcripts of messenger RNA (mRNA) and the excision of intron sequences, via a spliceosomal mechanism, so that mRNA consisting only of the joined exons is produced.
ncRNA processing	Any process that results in the conversion of one or more primary non-coding RNA (ncRNA) transcripts into one or more mature ncRNA molecules.
snRNA catabolic process	The chemical reactions and pathways resulting in the breakdown of snRNA, small nuclear RNA, low-molecular-mass RNA molecules found in the eukaryotic nucleus as components of the small nuclear ribonucleoprotein.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MAAEVYFGDL	ELFEPFDHPE	ESIPKPVHTR	FKDDDGDEED	ENGVGDAELR	ERLRQCEETI
70	80	90	100	110	120
EQLRAENQEL	KRKLNILTRP	SGILVNDTKL	DGPILQILFM	NNAISKQYHQ	EIEEFVSNLV
130	140	150	160	170	180
KRFEEQQKND	VEKTSFNLLP	QPSSIVLEED	HKVEESCAIK	NNKEAFSVVG	SVLYFTNFCL
190	200	210	220	230	240
DKLGQPLLNE	NPQLSEGWEI	PKYHQVFSHI	VSLEGQEIQV	KAKRPKPHCF	NCGSEEHQMK
250	260	270	280	290	300
DCPMPRNAAR	ISEKRKEYMD	ACGEANNQNF	QQRYHAEEVE	ERFGRFKPGV	ISEELQDALG
310	320	330	340	350	360
VTDKSLPPFI	YRMRQLGYPP	GWLKEAELEN	SGLALYDGKD	GTDGETEVGE	IQQNKSVTYD
370	380	390	400	410	420
LSKLVNYPGF	NISTPRGIPD	EWRIFGSIPM	QACQQKDVFA	NYLTSNFQAP	GVKSGNKRSS
430	440	450	460	470	480
SHSSPGSPKK	QKNESNSAGS	PADMELDSDM	EVPHGSQSSE	SFQFQPPLPP	DTPPLPRGTP
490	500	510	520	530	540
PPVFTPPLPK	GTPPLTPSDS	PQTRTASGAV	DEDALTLEEL	EEQQRRIWAA	LEQAESVNSD
550	560	570	580	590	600
SDVPVDTPLT	GNSVASSPCP	NELDLPVPEG	KTSEKQTLDE	PEVPEIFTKK	SEAGHASSPD
610	620	630	640	650	660
SEVTSLCQKE	KAELAPVNTE	GALLDNGSVV	PNCDISNGGS	QKLFPADTSP	STATKIHSPI
670	680	690	700
PDMSKFATGI	TPFEFENMAE	STGMYLRIRS	LLKNSPRNQQ	KNKKASE