AiPD: Autoinhibited Protein Database

Q8IWZ8

Gene name	SUGP1 (SF4)
Protein name	SURP and G-patch domain-containing protein 1
Names	RNA-binding protein RBP, Splicing factor 4
Species	Homo sapiens (Human)
KEGG Pathway	hsa:57794
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

72-205 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

72-205 (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

4 structures for Q8IWZ8

Entry ID	Method	Resolution	Chain	Position	Source
8EJM	X-ray	180 A	B	543-614	PDB
8GXL	X-ray	240 A	A/B	433-577	PDB
8GXM	X-ray	281 A	A/B	433-586	PDB
AF-Q8IWZ8-F1	Predicted				AlphaFoldDB

536 variants for Q8IWZ8

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs781016448 CA9325732	2	S>N		No	ClinGen ExAC gnomAD
CA9325731 rs757155060	4	K>Q		No	ClinGen ExAC
CA9325728 rs755030919	5	M>I		No	ClinGen ExAC gnomAD
rs1266077087 CA404933948	5	M>T		No	ClinGen gnomAD
CA9325729 rs139043355	5	M>V		No	ClinGen ESP ExAC gnomAD
CA404933940 rs1312547838	6	D>G	Variant assessed as Somatic; 9.255e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1320129744 CA404933944	6	D>N		No	ClinGen gnomAD
rs753871140 CA9325727	7	N>D		No	ClinGen ExAC TOPMed gnomAD
CA306326734 rs753871140	7	N>H		No	ClinGen ExAC TOPMed gnomAD
rs1296839116 CA404933935	7	N>S		No	ClinGen gnomAD
rs753871140 CA404933936	7	N>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs761025042 CA9325725	8	R>G		No	ClinGen ExAC TOPMed gnomAD
CA9325723 rs768057590	8	R>P		No	ClinGen ExAC gnomAD
CA9325724 rs768057590	8	R>Q		No	ClinGen ExAC gnomAD
rs761025042 CA404933930	8	R>W		No	ClinGen ExAC TOPMed gnomAD
rs371791944 CA9325721	9	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs371791944 CA404933925	9	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA9325722 rs762394886	9	D>Y		No	ClinGen ExAC gnomAD
CA404933921 rs1170881341	10	V>I		No	ClinGen gnomAD
rs762483181 CA9325719	11	A>S		No	ClinGen ExAC gnomAD
rs199639572 CA9325718	11	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1199294539 CA404933869	15	N>S		No	ClinGen gnomAD
CA9325684 rs545260401	16	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs143256524 CA9325685	16	R>W		No	ClinGen ESP ExAC gnomAD
rs1267647855 CA404933859	17	W>*		No	ClinGen TOPMed
rs1434073323 CA404933853	18	F>L		No	ClinGen TOPMed
CA404933827 rs746625391	22	P>A		No	ClinGen gnomAD
CA404933826 rs746625391	22	P>S		No	ClinGen gnomAD
rs746625391 CA306323178	22	P>T		No	ClinGen gnomAD
rs1419693204 CA404933819	23	P>L		No	ClinGen TOPMed
rs977443236 CA306323174	23	P>T		No	ClinGen Ensembl
CA404933806 rs1159307724	25	S>F		No	ClinGen TOPMed
CA404933796 rs1362582999	27	K>E		No	ClinGen TOPMed
CA9325682 rs753203045	28	M>I		No	ClinGen ExAC gnomAD
rs765749539 CA9325681	30	M>V		No	ClinGen ExAC TOPMed gnomAD
rs758981874 CA9325680	31	N>S		No	ClinGen ExAC gnomAD
CA404933756 rs1159334788	32	I>F		No	ClinGen gnomAD
rs772875008 CA306323139	32	I>N		No	ClinGen Ensembl
CA404933729 rs1568638215	36	E>K		No	ClinGen Ensembl
CA306323083 rs139366608	39	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA306323060 rs199730578	40	A>S		No	ClinGen ExAC TOPMed gnomAD
rs199730578 CA9325677	40	A>T	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	41	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404933693 rs1473231211	41	Q>R		No	ClinGen gnomAD
CA404933685 rs1239639475	42	K>R		No	ClinGen gnomAD
CA404933678 rs1185862083	43	K>T		No	ClinGen gnomAD
CA404933671 rs992125911	44	R>L		No	ClinGen TOPMed gnomAD
rs992125911 CA306323040	44	R>Q		No	ClinGen TOPMed gnomAD
rs773051132 CA9325676	44	R>W		No	ClinGen ExAC TOPMed gnomAD
rs200530435 CA306323034	45	E>G		No	ClinGen 1000Genomes
rs771817670 CA9325675	46	I>V		No	ClinGen ExAC gnomAD
CA404933645 rs1284644586	48	A>G		No	ClinGen gnomAD
CA404933649 rs1486997637	48	A>T		No	ClinGen gnomAD
rs1284644586 CA404933644	48	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA306323023 rs201453017	50	M>I		No	ClinGen 1000Genomes
CA404933618 rs1228575528	52	Q>E		No	ClinGen gnomAD
CA9325674 COSM1391807 rs747985857	52	Q>R	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1282284271 CA404933606	53	K>N		No	ClinGen gnomAD
CA404933601 rs1341071216	54	A>G		No	ClinGen gnomAD
rs774087554 CA9325673	54	A>T		No	ClinGen ExAC gnomAD
CA306322985 rs958958803	58	Q>H		No	ClinGen TOPMed
rs150894145 CA9325672	59	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1568638129 CA404933549	62	P>T		No	ClinGen Ensembl
CA9325671 rs745893529	64	P>S		No	ClinGen ExAC gnomAD
rs796157071 COSM565287 CA306322973	65	P>S	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs1347845799 CA404933525	66	H>D		No	ClinGen gnomAD
rs1317709277 CA404933519	66	H>Q		No	ClinGen gnomAD
CA404933517 rs1406240682	67	P>T		No	ClinGen gnomAD
TCGA novel	68	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1303474200 CA404933511	68	G>S		No	ClinGen gnomAD
rs141578579 CA9325668	69	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9325650 rs139031618	72	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA9325649 rs200879181	77	S>F		No	ClinGen ExAC TOPMed gnomAD
CA306317043 rs201242587	77	S>P		No	ClinGen 1000Genomes
rs199887237 CA9325648	79	I>F		No	ClinGen ExAC gnomAD
rs199887237 CA404933423	79	I>V		No	ClinGen ExAC gnomAD
rs965708437 CA306317034	86	D>V		No	ClinGen Ensembl
rs1385013043 CA404933306	95	K>R		No	ClinGen TOPMed
rs779302963 CA9325644	97	Q>E		No	ClinGen ExAC gnomAD
CA9325643 rs755469277	99	A>E		No	ClinGen ExAC gnomAD
rs754396458 CA9325642	100	Q>H		No	ClinGen ExAC gnomAD
rs780550393 CA9325641	102	S>G		No	ClinGen ExAC gnomAD
CA9325640 rs755509135	102	S>R		No	ClinGen ExAC gnomAD
CA404933258 rs1273127969	102	S>T		No	ClinGen gnomAD
CA9325638 rs567819859	103	T>A		No	ClinGen 1000Genomes ExAC gnomAD
rs567819859 CA9325639	103	T>P		No	ClinGen 1000Genomes ExAC gnomAD
COSM1391805 rs1288215925 CA404933231	105	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs765038141 CA9325615	106	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1230331051 CA404933219	107	T>A		No	ClinGen gnomAD
CA306312455 rs1040617727	108	S>G		No	ClinGen TOPMed gnomAD
CA9325612 rs558513662	109	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1003347536 CA306312379	110	P>L		No	ClinGen TOPMed
rs1452682461 CA404933200	110	P>S		No	ClinGen gnomAD
rs990314561 CA306312354	112	A>T		No	ClinGen TOPMed gnomAD
rs150385928 CA306312345	113	P>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs150385928 CA9325609	113	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA306312333 rs371886791	114	P>S		No	ClinGen ESP
CA404933175 rs1194356616	115	S>R		No	ClinGen gnomAD
CA306312325 rs749604015	117	P>S		No	ClinGen ExAC TOPMed gnomAD
rs749604015 CA9325608	117	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1265506044 CA404933152	118	T>I		No	ClinGen gnomAD
rs1265506044 CA404933154	118	T>N		No	ClinGen gnomAD
rs770169929 CA404933150	119	P>A		No	ClinGen ExAC TOPMed gnomAD
CA404933148 rs1599865797	119	P>R		No	ClinGen Ensembl
rs770169929 CA9325606	119	P>S		No	ClinGen ExAC TOPMed gnomAD
CA9325604 rs369935862	121	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA404933131 rs1219842709	122	G>W		No	ClinGen gnomAD
rs1280253261 CA404933112	125	S>T		No	ClinGen TOPMed
CA9325601 rs777529014	131	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs746524142 CA9325602	131	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1599865736 CA404933069	132	T>A		No	ClinGen Ensembl
rs758150595 CA9325600	133	G>A		No	ClinGen ExAC TOPMed gnomAD
rs1310417911 CA404933057	134	L>Q		No	ClinGen gnomAD
CA404933045 rs1191103434	136	L>Q		No	ClinGen TOPMed
rs1467182969 CA404933039	137	A>G		No	ClinGen gnomAD
CA404933030 rs1329519670	138	S>R		No	ClinGen Ensembl
CA9325597 rs146447054	140	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9325594 rs761839165	141	G>D		No	ClinGen ExAC gnomAD
CA9325592 rs764278070	142	P>S		No	ClinGen ExAC TOPMed gnomAD
CA306312203 rs200094872	147	S>C		No	ClinGen 1000Genomes gnomAD
rs775713772 CA404932968	148	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA404932964 rs1250077640	149	A>S		No	ClinGen gnomAD
CA404932961 rs1226101823	149	A>V		No	ClinGen gnomAD
rs1331224160 CA404932956	150	K>R		No	ClinGen gnomAD
rs1389159836 CA404932951	151	Q>E		No	ClinGen TOPMed
CA404932934 rs1568632329	153	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1599865622 CA404932929	154	V>G		No	ClinGen Ensembl
CA9325588 rs553015469	154	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200740823 CA9325587	155	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9325584 rs777477846	156	H>Y		No	ClinGen ExAC gnomAD
CA9325583 rs531964821	157	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9325582 rs376950672	157	R>H	Variant assessed as Somatic; 0.0001395 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs376950672 CA404932914	157	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9325580 rs766788551	158	P>L		No	ClinGen ExAC TOPMed gnomAD
rs779990752 CA9325578	159	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1222381018 CA404932884	162	Q>*		No	ClinGen TOPMed
rs1599865570 CA404932883	162	Q>P		No	ClinGen Ensembl
rs1179685803 CA404932873	163	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA404932871 rs756091098	164	P>S		No	ClinGen ExAC TOPMed gnomAD
rs756091098 CA9325577	164	P>T		No	ClinGen ExAC TOPMed gnomAD
CA404932853 rs1413005612	166	E>D		No	ClinGen TOPMed
CA9325574 rs763148041	168	E>K		No	ClinGen ExAC gnomAD
CA404932831 rs1231355575	169	E>V		No	ClinGen gnomAD
rs765383429 CA9325572	171	D>Y		No	ClinGen ExAC gnomAD
rs943619299 CA306312028	172	Y>C		No	ClinGen gnomAD
CA9325569 rs776884463	173	E>G		No	ClinGen ExAC gnomAD
CA9325570 rs759906189	173	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA9325567 rs761307333	177	E>G		No	ClinGen ExAC
CA9325566 rs772847394	178	I>M		No	ClinGen ExAC gnomAD
rs1599865501 CA404932765	179	K>Q		No	ClinGen Ensembl
CA9325565 rs149077181	179	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA9325564 rs747612934	180	V>F		No	ClinGen ExAC TOPMed gnomAD
CA404932741 rs1456544120	180	V>G		No	ClinGen TOPMed gnomAD
CA404932734 rs1435988714	182	P>S		No	ClinGen TOPMed gnomAD
CA404932725 rs1172672425	183	P>Q		No	ClinGen gnomAD
rs1599863629 CA404932718	184	E>G		No	ClinGen Ensembl
rs773103956 CA9325471	187	E>A		No	ClinGen ExAC TOPMed gnomAD
CA9325470 rs371293274	187	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs773103956 CA404932699	187	E>G		No	ClinGen ExAC TOPMed gnomAD
CA404932701 rs1175197843	187	E>K		No	ClinGen TOPMed gnomAD
rs775710080 CA9325468	189	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs367575240 CA9325469	189	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs891610880 CA306309919	190	K>N		No	ClinGen TOPMed gnomAD
CA9325467 rs769929058	191	V>E		No	ClinGen ExAC TOPMed gnomAD
CA404932678 rs1210511780	191	V>L		No	ClinGen TOPMed gnomAD
CA9325466 rs745959391	192	I>V		No	ClinGen ExAC gnomAD
TCGA novel	195	L>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781222533 CA9325465	197	R>C		No	ClinGen ExAC gnomAD
rs1373279840 CA404932636	197	R>H		No	ClinGen TOPMed gnomAD
rs1002713428 CA306309889	200	A>T		No	ClinGen Ensembl
rs771215202 CA9325464	201	E>G		No	ClinGen ExAC gnomAD
CA306309885 rs905905668	201	E>K		No	ClinGen TOPMed
rs1417130444 CA404932609	202	G>R		No	ClinGen gnomAD
CA404932594 rs1311738853	204	P>R		No	ClinGen gnomAD
CA404932597 rs1373146617	204	P>S		No	ClinGen gnomAD
rs150375001 CA9325462	205	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1599863531 CA404932584	206	L>V		No	ClinGen Ensembl
CA9325460 rs753267233	207	E>D		No	ClinGen ExAC gnomAD
CA9325459 rs779394884	208	K>E		No	ClinGen ExAC gnomAD
rs1040063846 CA306309837	208	K>N		No	ClinGen TOPMed gnomAD
CA404932569 rs1190038239	208	K>T		No	ClinGen gnomAD
CA404932564 rs1255583240	209	V>L		No	ClinGen gnomAD
rs1487983327 CA404932548	211	M>I		No	ClinGen gnomAD
CA404932550 rs944320360	211	M>R		No	ClinGen TOPMed gnomAD
CA306309836 rs944320360	211	M>T		No	ClinGen TOPMed gnomAD
rs1187232115 CA404932552	211	M>V		No	ClinGen gnomAD
CA9325458 rs754423277	215	K>R		No	ClinGen ExAC gnomAD
CA306309828 rs202057659	217	N>K		No	ClinGen Ensembl
CA404932491 rs1316739303	219	A>T		No	ClinGen gnomAD
rs753405908 CA9325457	219	A>V		No	ClinGen ExAC gnomAD
CA9325455 rs199690877	221	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	223	L>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1568630582 CA404932450	223	L>F		No	ClinGen Ensembl
CA404932454 rs1252737365	223	L>V		No	ClinGen gnomAD
CA404932435 rs1481902986	225	D>G		No	ClinGen gnomAD
CA404932428 rs181184094	226	K>M		No	ClinGen 1000Genomes gnomAD
TCGA novel	226	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs181184094 CA306309532	226	K>R		No	ClinGen 1000Genomes gnomAD
TCGA novel	226	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs374307015 CA306309526	228	S>N		No	ClinGen ESP
rs914332860 CA306309521	230	E>K		No	ClinGen Ensembl
CA404932386 rs1348182456	232	L>F		No	ClinGen gnomAD
rs772299597 CA9325422	233	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1305122894 CA404932380	233	Y>D		No	ClinGen gnomAD
CA306309475 rs201089916	234	Y>C		No	ClinGen TOPMed gnomAD
CA9325421 rs748468708	234	Y>H		No	ClinGen ExAC gnomAD
CA9325419 rs769033669	236	K>N		No	ClinGen ExAC gnomAD
rs1568630521 CA404932358	236	K>R		No	ClinGen Ensembl
CA9325418 rs749876599	237	K>E		No	ClinGen ExAC gnomAD
rs1285483889 CA404932344	238	V>A		No	ClinGen TOPMed
rs1354521283 CA404932342	239	A>T		No	ClinGen TOPMed
rs1461507420 CA404932332	240	E>G		No	ClinGen gnomAD
rs780432892 CA404932324	241	I>K		No	ClinGen ExAC gnomAD
rs755593835 CA9325416	241	I>M		No	ClinGen ExAC gnomAD
rs780432892 CA9325417	241	I>T		No	ClinGen ExAC gnomAD
rs1269227155 CA404932327	241	I>V		No	ClinGen gnomAD
TCGA novel	242	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9325415 rs745392386	243	K>R		No	ClinGen ExAC TOPMed gnomAD
CA404932305 rs1421413507	244	E>G		No	ClinGen gnomAD
rs1182900635 CA404932309	244	E>K		No	ClinGen gnomAD
CA404932296 rs1248975414	245	A>V		No	ClinGen gnomAD
rs1978144 CA9325414	248	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA306309394 rs980750977	249	Q>L		No	ClinGen TOPMed
rs764037415 CA9325411	250	A>V		No	ClinGen ExAC gnomAD
CA9325409 rs564501602	253	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
CA9325408 rs765097277	254	K>T		No	ClinGen ExAC gnomAD
CA404932222 rs1166042569	255	V>D		No	ClinGen TOPMed
CA306309355 rs981380888	255	V>F		No	ClinGen gnomAD
CA404932207 rs1271153601	258	P>A		No	ClinGen gnomAD
rs139824492 CA9325375	260	D>A		No	ClinGen ESP ExAC gnomAD
rs199857058 CA9325376	260	D>N		No	ClinGen ExAC TOPMed gnomAD
rs139824492 CA306308552	260	D>V		No	ClinGen ESP ExAC gnomAD
rs747940911 CA9325373	261	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	262	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1429649516 CA404932158	265	N>D		No	ClinGen gnomAD
rs560561021 CA9325371	267	A>S		No	ClinGen 1000Genomes ExAC gnomAD
CA9325370 rs369915490	268	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA404932127 rs1568629737 COSM148536	269	K>N	stomach [Cosmic]	No	ClinGen cosmic curated Ensembl
TCGA novel	272	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757279695 CA9325367	272	R>S		No	ClinGen ExAC gnomAD
rs1355321302 CA404932109	272	R>T		No	ClinGen TOPMed
CA404932098 rs1474228799	274	I>L		No	ClinGen TOPMed gnomAD
CA404932097 rs1474228799	274	I>V		No	ClinGen TOPMed gnomAD
rs751672219 COSM1225426 CA9325366	275	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs148548104 CA9325362	277	G>E		No	ClinGen ESP ExAC gnomAD
COSM1391804 rs753091052 CA9325363	277	G>R	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs975494489 CA306308451	278	G>C		No	ClinGen TOPMed gnomAD
rs759982073 CA9325361	278	G>D		No	ClinGen ExAC gnomAD
TCGA novel	278	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404932062 rs1236555768	280	E>A		No	ClinGen TOPMed
CA404932058 rs1235265799	280	E>D		No	ClinGen TOPMed gnomAD
CA9325358 rs760219553	280	E>K		No	ClinGen ExAC TOPMed gnomAD
rs76081408 CA306308398	281	V>G		No	ClinGen Ensembl
CA404932042 rs1373717950	283	T>S		No	ClinGen gnomAD
CA404932038 rs1324297973	284	I>V		No	ClinGen gnomAD
CA9325357 rs772633982	286	L>F		No	ClinGen ExAC gnomAD
CA404932014 rs1355564208	287	Q>H		No	ClinGen gnomAD
rs1182846518 CA404932000	289	N>S		No	ClinGen TOPMed
rs144812014 CA9325356	290	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
VAR_051339 rs17751061 CA9325355	290	R>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs17751061 CA306308356	290	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA404931982 rs1286973356	292	N>T		No	ClinGen gnomAD
TCGA novel	293	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404931967 rs1369371802	294	A>S		No	ClinGen gnomAD
rs768384274 CA9325354	295	F>I		No	ClinGen ExAC gnomAD
CA9325353 rs768384274	295	F>L		No	ClinGen ExAC gnomAD
rs1332115418 CA404931925	298	L>R		No	ClinGen TOPMed gnomAD
CA404931920 rs1238644335	299	Y>C		No	ClinGen TOPMed
rs1334159235 CA404931924	299	Y>N		No	ClinGen TOPMed
CA9325325 rs781194243	302	N>S		No	ClinGen ExAC gnomAD
CA9325324 rs758349812	303	S>N		No	ClinGen ExAC TOPMed gnomAD
CA404931882 rs1406571787	304	Q>H		No	ClinGen TOPMed gnomAD
CA9325323 rs571747108	305	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA404931872 rs1416040840	306	Y>C		No	ClinGen gnomAD
rs1490493862 CA404931866	307	K>E		No	ClinGen TOPMed
rs779234612 CA9325322	307	K>R		No	ClinGen ExAC gnomAD
CA9325321 rs755288420	308	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs1001432531 CA306304615	310	R>*		No	ClinGen TOPMed
rs552434494 CA9325319	310	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs552434494 COSM1225427 CA9325318	310	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA404931841 rs1456652583	311	Q>*		No	ClinGen TOPMed gnomAD
CA404931842 rs1456652583	311	Q>E		No	ClinGen TOPMed gnomAD
rs761192202 CA9325314	314	E>G		No	ClinGen ExAC gnomAD
CA306304580 rs907129000	315	E>K		No	ClinGen TOPMed
rs1254145923 CA404931808	316	F>I		No	ClinGen TOPMed gnomAD
rs1181557592 CA404931802	316	F>L		No	ClinGen gnomAD
CA9325312 rs763715807	317	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9325313 rs751111684	317	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1394472700 CA404931796	318	K>E		No	ClinGen TOPMed
CA404931787 rs1235202386	319	A>T		No	ClinGen gnomAD
CA404931756 rs1207157485	323	S>F		No	ClinGen gnomAD
rs144902507 CA306304560	324	T>I		No	ClinGen 1000Genomes gnomAD
rs141056245 CA9325310	325	G>V		No	ClinGen ESP
CA9325309 rs569955081	327	F>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA306304528 rs267605375	327	F>L		No	ClinGen Ensembl
CA404931726 rs1599858116	328	T>I		No	ClinGen Ensembl
rs1235653179 CA404931717	330	P>S		No	ClinGen gnomAD
CA306304523 rs892895144	331	D>E		No	ClinGen Ensembl
CA9325308 rs549763712	332	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs147240341 CA9325305	333	G>R		No	ClinGen ExAC TOPMed gnomAD
rs147240341 CA9325306	333	G>S		No	ClinGen ExAC TOPMed gnomAD
rs907097249 CA306304498	333	G>V		No	ClinGen Ensembl
rs1450104461 CA404931694	334	L>P		No	ClinGen TOPMed
CA404931689 rs1314127316	335	K>R		No	ClinGen TOPMed
rs749011248 CA306304484	336	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9325304 rs749011248	336	R>G		No	ClinGen ExAC TOPMed gnomAD
rs143809642 CA9325302	336	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9325303 rs143809642	336	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA404931677 rs1434034239	337	K>N		No	ClinGen gnomAD
CA9325301 rs749458200	338	S>C		No	ClinGen ExAC TOPMed gnomAD
rs749458200 CA9325300	338	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs756388171 CA9325298	339	P>L		No	ClinGen ExAC TOPMed gnomAD
rs138311992 CA9325299	339	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	341	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1182083974 CA404931661	341	E>K		No	ClinGen TOPMed
rs540622118 CA9325295	345	G>A		No	ClinGen 1000Genomes ExAC gnomAD
CA9325297 CA9325296 rs781521404	345	G>R		No	ClinGen ExAC gnomAD
CA9325294 rs368177566	346	S>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9325293 rs191697530	347	L>F		No	ClinGen ExAC gnomAD
CA9325292 rs762453182	348	P>A		No	ClinGen ExAC TOPMed gnomAD
CA404931622 rs762453182	348	P>S		No	ClinGen ExAC TOPMed gnomAD
rs762453182 CA404931621	348	P>T		No	ClinGen ExAC TOPMed gnomAD
rs759210238 CA9325289	350	A>P		No	ClinGen ExAC gnomAD
rs759210238 CA404931611	350	A>T		No	ClinGen ExAC gnomAD
rs776526668 CA9325288	351	T>P		No	ClinGen ExAC gnomAD
rs774565208 CA9325285	352	T>I		No	ClinGen ExAC gnomAD
CA9325286 rs760720706	352	T>P		No	ClinGen ExAC gnomAD
CA404931594 rs1294999217	353	C>Y		No	ClinGen gnomAD
CA404931587 rs1461605095	354	P>S		No	ClinGen TOPMed
rs749403249 CA404931582	355	A>S		No	ClinGen ExAC TOPMed gnomAD
CA9325283 COSM1225429 rs749403249	355	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs371163303 CA9325282	356	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9325280 rs746196563	358	T>M		No	ClinGen ExAC TOPMed gnomAD
rs564624631 CA9325278	359	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9325277 rs747450618	360	A>V		No	ClinGen ExAC TOPMed gnomAD
CA404931550 rs1449082090	361	P>S		No	ClinGen TOPMed gnomAD
rs752234954 CA404931527	364	I>M		No	ClinGen ExAC gnomAD
rs1431968334 CA404931512	367	P>S		No	ClinGen gnomAD
CA404931507 rs1262886873	368	A>P		No	ClinGen TOPMed
rs865923116 CA306304331	369	A>S		No	ClinGen Ensembl
CA9325272 rs376087890	369	A>V		No	ClinGen ExAC gnomAD
CA404931494 rs1184108411	370	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA9325271 rs373152885	370	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA9325267 rs767598998	371	G>E		No	ClinGen ExAC gnomAD
rs773238000 CA9325268	371	G>R		No	ClinGen ExAC gnomAD
rs773238000 CA9325269	371	G>W		No	ClinGen ExAC gnomAD
rs763097381 CA9325266	374	A>V		No	ClinGen ExAC gnomAD
CA9325265 rs775688929	375	S>T		No	ClinGen ExAC gnomAD
rs200062643 CA404931465	376	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200062643 CA9325263	376	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	377	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404931451 rs1568626535	378	T>S		No	ClinGen Ensembl
CA9325261 rs747395123	379	V>L		No	ClinGen ExAC TOPMed gnomAD
CA9325260 rs747395123	379	V>M		No	ClinGen ExAC TOPMed gnomAD
CA9325259 rs778212982	380	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs1376238173 CA404931432	381	R>S		No	ClinGen gnomAD
rs998515034 CA306304268	383	R>Q		No	ClinGen TOPMed gnomAD
CA9325258 rs758942961	383	R>W		No	ClinGen ExAC TOPMed gnomAD
CA404931414 rs778539130 COSM1304226 CA404931413	384	K>N	Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs754579542 CA9325255	385	S>C		No	ClinGen ExAC gnomAD
rs143568455 CA306304255	385	S>N		No	ClinGen ESP TOPMed
rs1180756895 CA404931403 COSM340497	386	R>L	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1180756895 CA404931405	386	R>Q		No	ClinGen TOPMed gnomAD
CA306304249 rs866478381	386	R>W		No	ClinGen TOPMed gnomAD
rs1198344499 CA404931382	389	P>L		No	ClinGen gnomAD
rs1289822512 CA404931364	392	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA9325251 rs750287204	393	K>E		No	ClinGen ExAC gnomAD
rs1599857784 CA404931345	394	V>G		No	ClinGen Ensembl
rs1489895826 CA404931338	395	E>D		No	ClinGen TOPMed
rs761900209 CA9325249	397	P>S		No	ClinGen ExAC gnomAD
CA9325247 rs765296196	401	L>R		No	ClinGen ExAC gnomAD
CA404931304 rs775427869	401	L>V		No	ClinGen ExAC TOPMed gnomAD
rs767527075 CA9325245	403	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs771173241 CA9325244	404	R>S		No	ClinGen ExAC gnomAD
CA404931280 rs1394494957 COSM1480820	405	D>Y	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1049880786 CA404931273	406	V>L		No	ClinGen TOPMed gnomAD
rs1049880786 CA306304210	406	V>M		No	ClinGen TOPMed gnomAD
CA9325242 rs773612129	407	D>V		No	ClinGen ExAC gnomAD
rs1013287126 CA306304199	408	A>P		No	ClinGen Ensembl
CA404931258 rs1157817011	408	A>V		No	ClinGen gnomAD
CA9325241 rs772549956	409	S>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA404931253 rs772549956	409	S>F		No	ClinGen ExAC gnomAD
CA404931249 rs1185040619	410	P>L		No	ClinGen gnomAD
rs1441412079 CA404931241	411	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA404931245 rs1372375128	411	S>P		No	ClinGen gnomAD
rs1206621706 CA404931236	412	P>H		No	ClinGen gnomAD
CA404931235 rs1206621706	412	P>L		No	ClinGen gnomAD
CA404931240 rs1300023551	412	P>T		No	ClinGen TOPMed
CA9325237 rs748782198	414	S>L		No	ClinGen ExAC TOPMed gnomAD
CA9325209 rs758315037	418	L>F		No	ClinGen ExAC gnomAD
rs766116629 CA9325206	422	G>S		No	ClinGen ExAC TOPMed gnomAD
rs767760322 CA9325204	423	Y>C		No	ClinGen ExAC gnomAD
TCGA novel	424	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404930425 rs1568617790	427	K>E		No	ClinGen Ensembl
CA9325202 rs774631996	427	K>N		No	ClinGen ExAC gnomAD
rs1057524594 CA404930418	428	P>A		No	ClinGen TOPMed
RCV000422553 rs1057524594 CA16608983	428	P>T		No	ClinGen ClinVar TOPMed dbSNP
CA9325201 rs769196580	430	G>V		No	ClinGen ExAC TOPMed gnomAD
CA9325200 rs763437677	432	V>A		No	ClinGen ExAC gnomAD
rs776145667 CA9325199	433	G>D		No	ClinGen ExAC
CA9325197 rs201991625	434	V>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1293982462 CA404930380	435	T>K		No	ClinGen gnomAD
rs770527782 CA9325195	435	T>P		No	ClinGen ExAC gnomAD
TCGA novel	439	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752533161 CA306292186	440	A>S		No	ClinGen TOPMed gnomAD
rs752533161 CA306292189	440	A>T		No	ClinGen TOPMed gnomAD
CA404930342 rs1408171450	441	Q>R		No	ClinGen Ensembl
CA9325192 rs758347969	442	K>R		No	ClinGen ExAC gnomAD
rs892190941 CA306292173	443	K>M		No	ClinGen TOPMed
rs1427437991 CA404930330	443	K>Q		No	ClinGen gnomAD
CA404930327 rs892190941	443	K>R		No	ClinGen TOPMed
CA404930293 rs1475461688	448	Q>E		No	ClinGen TOPMed
rs774155517 CA306291585	454	M>V		No	ClinGen gnomAD
CA404930223 rs1402819100	455	Y>D		No	ClinGen TOPMed gnomAD
CA9325161 rs753151041	456	D>G		No	ClinGen ExAC gnomAD
rs758652218 CA9325162	456	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1390534271 CA404930211	457	M>L		No	ClinGen TOPMed gnomAD
rs1390534271 CA404930210	457	M>V		No	ClinGen TOPMed gnomAD
rs1318522339 CA404930194	459	M>V		No	ClinGen gnomAD
CA9325159 rs760178317	461	H>Q		No	ClinGen ExAC gnomAD
CA404930176 rs1456634075	461	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA404930162 rs1411847599	463	R>Q		No	ClinGen gnomAD
COSM993317 rs765736375 CA9325157	463	R>W	Variant assessed as Somatic; 4.951e-05 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA404930147 rs1181467043	465	M>I		No	ClinGen gnomAD
rs199704654 CA9325156	466	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs772687437 CA9325155	467	D>N		No	ClinGen ExAC gnomAD
COSM711014 rs1207468394 CA404930130	468	M>L	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1223071035 CA404930098	472	W>L		No	ClinGen gnomAD
CA9325154 rs771785261	473	E>K		No	ClinGen ExAC gnomAD
rs144894916 CA306291563	474	K>N		No	ClinGen ESP TOPMed gnomAD
rs149904112 CA9325153	475	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA9325152 rs774192281	479	H>Q		No	ClinGen ExAC gnomAD
rs1185765744 CA404930045	480	Q>E		No	ClinGen TOPMed
CA9325151 rs749160884	481	H>D		No	ClinGen ExAC TOPMed gnomAD
rs749160884 CA9325150	481	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs200366547 CA9325148	482	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA306291546 rs950565750	483	Y>C		No	ClinGen TOPMed gnomAD
CA404930000 rs1348182098	486	D>G		No	ClinGen gnomAD
rs1164420519 CA404929990	487	E>D		No	ClinGen gnomAD
CA404929977 rs1568617106	489	V>A		No	ClinGen Ensembl
CA404929975 rs1568617106	489	V>G		No	ClinGen Ensembl
rs777828548 CA9325146	491	S>G		No	ClinGen ExAC TOPMed gnomAD
rs758740995 CA9325145	491	S>N		No	ClinGen ExAC gnomAD
rs777828548 CA404929966	491	S>R		No	ClinGen ExAC TOPMed gnomAD
rs779486894 CA9325143	491	S>R		No	ClinGen ExAC TOPMed gnomAD
rs150298383 CA9325142	492	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
TCGA novel	495	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404929839 rs1343841425	502	R>C		No	ClinGen TOPMed gnomAD
COSM993316 CA404929836 rs1272273296	502	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1331432714 CA404929794	505	M>I		No	ClinGen gnomAD
CA404929798 rs1214274813	505	M>T		No	ClinGen TOPMed
TCGA novel	510	E>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1304949095 CA404929353	511	W>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA404929334 rs1377529255	513	E>K		No	ClinGen gnomAD
rs1160503522 CA404929319	514	Q>E		No	ClinGen gnomAD
CA404929285 rs1459695823	517	K>R		No	ClinGen TOPMed
CA404929277 rs1409053891	518	M>V		No	ClinGen gnomAD
rs746198171 CA9325118	520	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	520	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766950771 CA9325116	521	G>R		No	ClinGen ExAC gnomAD
TCGA novel	526	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200762916 CA306291283	531	P>L		No	ClinGen gnomAD
rs1286531378 CA404929135	531	P>S		No	ClinGen gnomAD
rs372492652 CA404929120	532	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	533	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1019036177 CA306291275	538	M>L		No	ClinGen Ensembl
TCGA novel	539	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404929031 rs1312881404	541	F>L		No	ClinGen TOPMed
TCGA novel	542	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404929026 rs1322992365	542	K>R		No	ClinGen TOPMed
rs1394686240 CA404929014	544	L>P		No	ClinGen gnomAD
rs1331465159 CA404928988	546	E>A		No	ClinGen TOPMed
rs751111630 CA9325095	548	R>C		No	ClinGen ExAC gnomAD
rs552135971 CA306290961	548	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA gnomAD
rs1019724930 CA306290957	551	D>E		No	ClinGen TOPMed
CA404928952 rs1599842472	552	Y>H		No	ClinGen Ensembl
CA306290954 rs987344615	553	S>*		No	ClinGen TOPMed
rs145841833 CA306290947	559	K>R		No	ClinGen 1000Genomes gnomAD
rs1332144920 CA404928884	561	T>N		No	ClinGen TOPMed
CA306290923 rs200868748	562	V>A		No	ClinGen 1000Genomes
rs201984049 CA306290919	564	N>S		No	ClinGen 1000Genomes
rs763715738 CA9325093	565	I>V		No	ClinGen ExAC gnomAD
TCGA novel	566	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404928839 rs1340426570	568	Q>*		No	ClinGen gnomAD
CA306290909 VAR_051340 rs1044980	568	Q>H		No	ClinGen UniProt Ensembl dbSNP
rs752428280 CA9325091	569	M>L		No	ClinGen ExAC gnomAD
TCGA novel CA9325090 rs775586104	571	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
rs888285140 CA306290889	571	M>T		No	ClinGen Ensembl
rs113605232 CA306290885	572	K>E		No	ClinGen Ensembl
TCGA novel	572	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759259125 CA404928780	576	K>M		No	ClinGen ExAC gnomAD
rs759259125 CA9325089	576	K>T		No	ClinGen ExAC gnomAD
CA404928765 rs1404008594	578	G>D		No	ClinGen gnomAD
TCGA novel	580	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766450315 CA9325087	583	S>L		No	ClinGen ExAC gnomAD
CA404928728 rs1418458852	584	E>G		No	ClinGen gnomAD
CA9325086 rs761951334	585	G>D		No	ClinGen ExAC gnomAD
CA404928697 rs1248586816	589	K>E		No	ClinGen gnomAD
rs777041381 CA9325060	595	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1399430986 CA404928549	598	T>A		No	ClinGen TOPMed
rs1336011516 CA404928531	600	D>N		No	ClinGen gnomAD
TCGA novel	601	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771420701 CA9325059	601	G>S		No	ClinGen ExAC gnomAD
COSM3937951 CA9325058 rs747446537	602	A>T	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA9325056 rs199748454	606	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs778596406 CA9325054	608	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA404928434 rs747643478	608	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs754634640 CA404928419	609	P>L		No	ClinGen ExAC gnomAD
CA9325053 rs754634640	609	P>Q		No	ClinGen ExAC gnomAD
CA306290466 rs896681510	610	A>V		No	ClinGen gnomAD
CA404928402 rs1003049894	611	E>K		No	ClinGen TOPMed gnomAD
CA306290461 rs1003049894	611	E>Q		No	ClinGen TOPMed gnomAD
CA404928336 rs1568615568	615	E>D		No	ClinGen Ensembl
rs755987704 CA9325050	615	E>K		No	ClinGen ExAC gnomAD
CA9325048 rs767385847	617	D>N		No	ClinGen ExAC TOPMed gnomAD
rs752771723 CA9325046	618	E>K		No	ClinGen ExAC gnomAD
TCGA novel	618	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765486353 CA9325045	619	Y>C		No	ClinGen ExAC gnomAD
CA404928281 rs1599841618	619	Y>D		No	ClinGen Ensembl
CA404928275 rs1243933383	620	E>Q		No	ClinGen TOPMed
CA9325043 rs776841011	621	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1407291543 CA404928255	623	R>C		No	ClinGen gnomAD
CA404928250 rs1383840199	623	R>H		No	ClinGen TOPMed gnomAD
CA404928249 rs1176708366	624	K>Q		No	ClinGen TOPMed
TCGA novel	625	R>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404928219 rs1250475249	627	M>I		No	ClinGen gnomAD
CA404928213 rs1185234617	628	L>P		No	ClinGen gnomAD
rs747671249 CA9325037	631	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9325036 rs778344320	631	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA404928183 rs1290819987	633	R>Q		No	ClinGen gnomAD
CA404928179 rs1228912277	634	P>A		No	ClinGen gnomAD
rs1293368368 CA404928170	635	N>S		No	ClinGen gnomAD
CA404928164 rs1568615466	636	P>A		No	ClinGen Ensembl
TCGA novel	637	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404928123 rs1360283108	640	P>R		No	ClinGen gnomAD
rs182843197 CA9325009	644	Y>S		No	ClinGen 1000Genomes ExAC gnomAD

No associated diseases with Q8IWZ8

3 regional properties for Q8IWZ8

Type	Name	Position	InterPro Accession
domain	SWAP/Surp	189 - 243	IPR000061-1
domain	SWAP/Surp	264 - 318	IPR000061-2
domain	G-patch domain	560 - 609	IPR000467

Functions

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

2 GO annotations of cellular component

Name	Definition
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
spliceosomal complex	Any of a series of ribonucleoprotein complexes that contain snRNA(s) and small nuclear ribonucleoproteins (snRNPs), and are formed sequentially during the spliceosomal splicing of one or more substrate RNAs, and which also contain the RNA substrate(s) from the initial target RNAs of splicing, the splicing intermediate RNA(s), to the final RNA products. During cis-splicing, the initial target RNA is a single, contiguous RNA transcript, whether mRNA, snoRNA, etc., and the released products are a spliced RNA and an excised intron, generally as a lariat structure. During trans-splicing, there are two initial substrate RNAs, the spliced leader RNA and a pre-mRNA.

1 GO annotations of molecular function

Name	Definition
RNA binding	Binding to an RNA molecule or a portion thereof.

2 GO annotations of biological process

Name	Definition
mRNA processing	Any process involved in the conversion of a primary mRNA transcript into one or more mature mRNA(s) prior to translation into polypeptide.
RNA splicing	The process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8CH02	Sugp1	SURP and G-patch domain-containing protein 1	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MSLKMDNRDV	AGKANRWFGV	APPKSGKMNM	NILHQEELIA	QKKREIEAKM	EQKAKQNQVA
70	80	90	100	110	120
SPQPPHPGEI	TNAHNSSCIS	NKFANDGSFL	QQFLKLQKAQ	TSTDAPTSAP	SAPPSTPTPS
130	140	150	160	170	180
AGKRSLLISR	RTGLGLASLP	GPVKSYSHAK	QLPVAHRPSV	FQSPDEDEEE	DYEQWLEIKV
190	200	210	220	230	240
SPPEGAETRK	VIEKLARFVA	EGGPELEKVA	MEDYKDNPAF	AFLHDKNSRE	FLYYRKKVAE
250	260	270	280	290	300
IRKEAQKSQA	ASQKVSPPED	EEVKNLAEKL	ARFIADGGPE	VETIALQNNR	ENQAFSFLYE
310	320	330	340	350	360
PNSQGYKYYR	QKLEEFRKAK	ASSTGSFTAP	DPGLKRKSPP	EALSGSLPPA	TTCPASSTPA
370	380	390	400	410	420
PTIIPAPAAP	GKPASAATVK	RKRKSRWGPE	EDKVELPPAE	LVQRDVDASP	SPLSVQDLKG
430	440	450	460	470	480
LGYEKGKPVG	LVGVTELSDA	QKKQLKEQQE	MQQMYDMIMQ	HKRAMQDMQL	LWEKAVQQHQ
490	500	510	520	530	540
HGYDSDEEVD	SELGTWEHQL	RRMEMDKTRE	WAEQLTKMGR	GKHFIGDFLP	PDELEKFMET
550	560	570	580	590	600
FKALKEGREP	DYSEYKEFKL	TVENIGYQML	MKMGWKEGEG	LGSEGQGIKN	PVNKGTTTVD
610	620	630	640
GAGFGIDRPA	ELSKEDDEYE	AFRKRMMLAY	RFRPNPLNNP	RRPYY