AiPD: Autoinhibited Protein Database

Q6UWB4

Gene name	PRSS55 (TSP1)
Protein name	Serine protease 55
Names	Testis serine protease 1, T-SP1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:203074
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-81 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-81 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for Q6UWB4

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q6UWB4-F1	Predicted				AlphaFoldDB

507 variants for Q6UWB4

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA4622485 rs777787289	4	F>L		No	ClinGen ExAC gnomAD
rs143401399 CA4622484	4	F>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4622487 rs770717607	5	S>*		No	ClinGen ExAC TOPMed gnomAD
rs369783831 CA4622486	5	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA370274497 rs1179730946	6	V>G		No	ClinGen gnomAD
CA4622490 rs769618238	8	L>P		No	ClinGen ExAC gnomAD
CA4622491 rs775100969	11	S>C		No	ClinGen ExAC TOPMed gnomAD
CA370274539 rs201824405	14	T>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs201824405 CA4622493	14	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs35102108 CA370274542	15	G>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs35102108 CA370274541 CA4622495	15	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA370274558 CA4622497 rs754424747	17	Q>H		No	ClinGen ExAC gnomAD
CA370274559 rs1373000159	18	L>I		No	ClinGen gnomAD
rs1229268268 CA370274564	18	L>R		No	ClinGen gnomAD
rs200945105 CA4622499	19	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4622500 rs200945105	19	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1483982427 CA370274572	20	P>R		No	ClinGen TOPMed gnomAD
rs932219981 CA370274569	20	P>S		No	ClinGen TOPMed gnomAD
rs932219981 CA171838595	20	P>T		No	ClinGen TOPMed gnomAD
rs148969594 CA4622503	21	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA4622502 rs540136341	21	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1183393996 CA370274600	25	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	25	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs998168017 CA171838597	25	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA370274607 rs1443705658	26	E>D		No	ClinGen gnomAD
CA4622505 rs373245354	26	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs781077926 CA370274611	27	A>G		No	ClinGen ExAC gnomAD
rs1386597222 CA370274610	27	A>T		No	ClinGen TOPMed
rs781077926 CA4622506	27	A>V		No	ClinGen ExAC gnomAD
rs745853238 CA4622507	28	G>A		No	ClinGen ExAC gnomAD
rs1391537697 CA370274613	28	G>R		No	ClinGen gnomAD
rs1449124141 CA370274623	29	V>G		No	ClinGen gnomAD
rs1354476918 CA370274618	29	V>M		No	ClinGen TOPMed gnomAD
rs956805209 CA370274627	30	A>D		No	ClinGen TOPMed
CA171838598 rs956805209	30	A>G		No	ClinGen TOPMed
TCGA novel	30	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779891576 CA370274631	31	I>N		No	ClinGen ExAC gnomAD
rs779891576 CA4622509	31	I>T		No	ClinGen ExAC gnomAD
rs200433233 CA4622508	31	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA370274636 rs1210258683	32	L>R		No	ClinGen TOPMed
TCGA novel	33	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1298382264 CA370274639	33	G>S		No	ClinGen gnomAD
rs768132206 CA370274652	35	A>P		No	ClinGen ExAC gnomAD
rs768132206 CA4622511	35	A>S		No	ClinGen ExAC gnomAD
CA4622512 rs768132206	35	A>T		No	ClinGen ExAC gnomAD
rs866742258 CA370274660	36	R>S		No	ClinGen gnomAD
CA4622513 rs761186244	36	R>T		No	ClinGen ExAC gnomAD
rs143770095 CA4622514	37	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4622515 rs143770095	37	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1235584149 CA370274669	38	A>G		No	ClinGen gnomAD
CA4622516 rs760190605	38	A>S		No	ClinGen ExAC gnomAD
CA370274674 rs1585860989	39	H>P		No	ClinGen Ensembl
CA4622517 rs765848146	40	R>C		No	ClinGen ExAC TOPMed gnomAD
CA4622519 rs752951156	40	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4622518 rs752951156	40	R>L		No	ClinGen ExAC TOPMed gnomAD
rs765848146 CA370274680	40	R>S		No	ClinGen ExAC TOPMed gnomAD
CA370274686 rs1324747872	41	P>R		No	ClinGen TOPMed
CA171838602 rs113179713	42	Q>H		No	ClinGen Ensembl
CA370274699 rs1585861044	43	P>L		No	ClinGen Ensembl
CA370274696 rs148104469	43	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA gnomAD
CA171838603 rs148104469	43	P>T		No	ClinGen ESP gnomAD
rs4521726 CA4622523	44	P>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs4521726 CA370274701	44	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs4521726 CA4622522 VAR_042525	44	P>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4622520 rs200221119	44	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4622521 rs200221119	44	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs918897905 CA171838604	45	H>L		No	ClinGen TOPMed gnomAD
rs918897905 CA370274706	45	H>R		No	ClinGen TOPMed gnomAD
rs1390597981 CA370274704	45	H>Y		No	ClinGen TOPMed
CA4622524 rs79049699	46	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA171838605 rs979996173	46	P>H		No	ClinGen gnomAD
CA4622525 rs79049699	46	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	47	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780054130 CA4622526	47	P>L		No	ClinGen ExAC gnomAD
rs780054130 CA4622527	47	P>R		No	ClinGen ExAC gnomAD
rs1404413098	48	S>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA4622529 rs778395864	48	S>I		No	ClinGen ExAC TOPMed gnomAD
CA370274720 rs778395864	48	S>T		No	ClinGen ExAC TOPMed gnomAD
CA4622530 rs747849887	49	P>Q		No	ClinGen ExAC gnomAD
CA370274724 rs1220926513	49	P>S		No	ClinGen gnomAD
rs772783906 CA4622532	50	V>A		No	ClinGen ExAC gnomAD
rs770379564 CA4622534	51	S>R		No	ClinGen ExAC TOPMed gnomAD
rs776097512 CA4622535	51	S>T		No	ClinGen ExAC TOPMed gnomAD
CA370274741 rs1246831981	52	E>*		No	ClinGen gnomAD
CA370274739 rs1246831981	52	E>K		No	ClinGen gnomAD
CA4622584 rs764039693	53	C>R		No	ClinGen ExAC gnomAD
CA4622585 rs751254408	53	C>Y		No	ClinGen ExAC gnomAD
rs780720927 CA4622587	54	G>A		No	ClinGen ExAC gnomAD
rs925768620 CA370274768	54	G>C		No	ClinGen gnomAD
rs925768620 CA171840040	54	G>S		No	ClinGen gnomAD
CA4622589 rs377144084	56	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs377144084 CA4622590	56	R>T		No	ClinGen ESP ExAC gnomAD
CA4622591 rs779358127	57	S>T		No	ClinGen ExAC gnomAD
rs1563535627 CA370274792	58	I>T		No	ClinGen Ensembl
rs748699699 CA4622592	58	I>V		No	ClinGen ExAC TOPMed gnomAD
CA4622594 rs778174462	59	F>I		No	ClinGen ExAC TOPMed gnomAD
rs542089482 CA370274800	59	F>L		No	ClinGen ExAC TOPMed gnomAD
CA4622597 rs776753225	60	E>D		No	ClinGen ExAC TOPMed gnomAD
COSM3942445 CA4622596 rs115236590	60	E>K	oesophagus [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs559513848 CA171840070	62	R>K		No	ClinGen 1000Genomes TOPMed
CA370274827 rs142659616	64	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs142659616 CA4622599	64	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs759634596 CA4622598	64	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	66	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4622601 rs763052352	66	S>F		No	ClinGen ExAC
rs1302513981 CA370274842	67	R>G		No	ClinGen gnomAD
rs1347943306 CA370274844	67	R>K		No	ClinGen gnomAD
CA4622602 rs146015971	68	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA370274851 rs1563535709	68	I>N		No	ClinGen Ensembl
CA4622604 rs751308741	69	T>I		No	ClinGen ExAC TOPMed gnomAD
rs147885831 CA4622606	70	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4622605 rs147885831	70	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs147885831 CA4622607	70	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	70	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779594803 CA4622609	71	G>W		No	ClinGen ExAC gnomAD
rs1052427336 CA171840096	72	M>L		No	ClinGen TOPMed
rs144558050 COSM167480 CA4622611	74	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs771245027 CA4622615	78	E>D		No	ClinGen ExAC TOPMed gnomAD
CA370274910 rs1156428231	78	E>Q		No	ClinGen gnomAD
CA370274917 rs1235205181	79	F>I		No	ClinGen TOPMed
CA4622617 rs550455663 COSM1094442	80	P>L	Variant assessed as Somatic; 0.0 impact. endometrium central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	80	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370274934 rs1210960895	81	W>*		No	ClinGen TOPMed
CA370274930 rs995056848	81	W>G		No	ClinGen Ensembl
rs995056848 CA171840109	81	W>R		No	ClinGen Ensembl
rs1327434025 CA370274944	82	Q>H		No	ClinGen TOPMed
rs749390727 CA171840114	83	V>A		No	ClinGen ExAC TOPMed gnomAD
CA4622620 rs749390727	83	V>G		No	ClinGen ExAC TOPMed gnomAD
rs148423273 CA4622619	83	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs774185638 CA4622622	84	S>G		No	ClinGen ExAC gnomAD
rs761637540 CA4622623	84	S>R		No	ClinGen ExAC gnomAD
CA370274962 rs767260983	86	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs767260983 CA4622624	86	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs772903766 CA4622625	87	A>T		No	ClinGen ExAC gnomAD
CA370274982 rs1282479695	89	S>C		No	ClinGen TOPMed
rs1252476034 CA370274993	90	E>D		No	ClinGen gnomAD
CA370274991 rs1221596539	90	E>G		No	ClinGen TOPMed gnomAD
rs766021919 CA4622627	90	E>Q		No	ClinGen ExAC gnomAD
CA370274997 rs1481458886	91	P>A		No	ClinGen gnomAD
rs753299688 CA370274999	91	P>H		No	ClinGen ExAC gnomAD
rs753299688 CA4622628	91	P>L		No	ClinGen ExAC gnomAD
CA370274996 rs1481458886	91	P>T		No	ClinGen gnomAD
CA4622629 rs754517507	92	F>L		No	ClinGen ExAC gnomAD
CA370275001 rs1326950313	92	F>L		No	ClinGen TOPMed
CA4622630 rs570113078	93	C>F		No	ClinGen 1000Genomes ExAC gnomAD
CA4622631 rs570113078	93	C>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs1382898635 CA370275015	94	G>C		No	ClinGen gnomAD
CA4622633 rs781478226	94	G>D		No	ClinGen ExAC gnomAD
rs1444737455 CA370275021	95	G>A		No	ClinGen gnomAD
CA4622635 rs756348631	95	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs749339316 CA4622637	97	I>N		No	ClinGen ExAC TOPMed gnomAD
CA4622636 rs780444673	97	I>V		No	ClinGen ExAC gnomAD
CA370275044 rs1245345867	99	N>S		No	ClinGen gnomAD
rs1309247070 CA370275054	100	K>N		No	ClinGen gnomAD
rs771893541 CA370275063	101	W>*		No	ClinGen ExAC TOPMed gnomAD
CA4622641 rs771893541	101	W>C		No	ClinGen ExAC TOPMed gnomAD
rs765978923 CA370275068	102	W>*		No	ClinGen ExAC TOPMed gnomAD
rs765978923 CA4622644	102	W>C		No	ClinGen ExAC TOPMed gnomAD
CA4622642 rs200106190	102	W>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200106190 CA4622643	102	W>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	104	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370275077 rs1247752634	104	L>I		No	ClinGen TOPMed
CA370275084 rs1240920499	105	T>A		No	ClinGen gnomAD
rs1443405083 CA370275087	105	T>S		No	ClinGen gnomAD
CA370275092 rs759028808	106	A>E		No	ClinGen ExAC TOPMed gnomAD
rs759028808 CA4622646	106	A>V		No	ClinGen ExAC TOPMed gnomAD
rs746852253 CA171840167	107	A>T		No	ClinGen Ensembl
CA370275105 rs951897463	108	H>Q		No	ClinGen TOPMed gnomAD
CA4622648 rs752103560	109	C>G		No	ClinGen ExAC TOPMed gnomAD
CA370275109 rs1404547455	109	C>Y		No	ClinGen gnomAD
rs757640174 CA370275115	110	L>V		No	ClinGen ExAC TOPMed gnomAD
rs768084628 CA4622650	111	Y>*		No	ClinGen ExAC gnomAD
CA171840172 rs1007666489	112	S>F		No	ClinGen Ensembl
rs376437843 CA4622652	113	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA370275133 rs376437843	113	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1298507947 CA370275140	114	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA4622653 rs780391536	115	L>V		No	ClinGen ExAC TOPMed gnomAD
CA370275153 rs1410195760	116	F>L		No	ClinGen TOPMed
TCGA novel	116	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4622683 rs775236814	117	P>L		No	ClinGen ExAC gnomAD
CA370275171 rs775236814	117	P>Q		No	ClinGen ExAC gnomAD
rs762335126 CA4622684	118	E>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	119	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA171841242 rs932558746	119	E>K		No	ClinGen TOPMed
CA4622685 rs371032219	119	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs773837631 CA4622686	120	L>M		No	ClinGen ExAC TOPMed gnomAD
CA370275186 rs1490650020	120	L>Q		No	ClinGen gnomAD
rs773837631 CA4622687	120	L>V		No	ClinGen ExAC TOPMed gnomAD
rs147875841 CA4622688	121	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4622689 rs754195730	122	V>A		No	ClinGen ExAC gnomAD
CA4622692 rs753013390	123	V>A		No	ClinGen ExAC gnomAD
CA4622691 rs141545763	123	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA171841295 rs944702896	126	T>S		No	ClinGen TOPMed gnomAD
CA4622695 rs751647669	127	N>S		No	ClinGen ExAC TOPMed gnomAD
CA4622697 rs562300446	128	D>N		No	ClinGen ExAC TOPMed gnomAD
CA370275242 rs1391749350	130	T>P		No	ClinGen gnomAD
rs755974585 CA4622699	131	S>R		No	ClinGen ExAC gnomAD
rs553350205 CA4622700	132	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA171841320 rs989285595	132	P>S		No	ClinGen Ensembl
CA370275260 rs1315338694	133	S>P		No	ClinGen gnomAD
CA370275271 rs1359089635	134	M>I		No	ClinGen gnomAD
CA370275266 rs1360927154	134	M>V		No	ClinGen gnomAD
rs749024116 CA171841328	135	E>K		No	ClinGen ExAC TOPMed gnomAD
rs749024116 CA4622701	135	E>Q		No	ClinGen ExAC TOPMed gnomAD
COSM1132887 rs374120510 CA171841333	136	I>T	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD
rs769604580 CA171841341	137	K>*		No	ClinGen Ensembl
rs768046445 CA4622702	137	K>M		No	ClinGen ExAC TOPMed gnomAD
CA171841351 rs1044835156 CA171841348	138	E>D		No	ClinGen Ensembl
rs747672990 CA4622704	138	E>G		No	ClinGen ExAC gnomAD
CA4622705 rs771514024	139	V>F		No	ClinGen ExAC TOPMed gnomAD
rs771514024 CA370275297	139	V>I		No	ClinGen ExAC TOPMed gnomAD
CA4622709 COSM3698746 rs140619099	140	A>G	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs545644807 CA4622708	140	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4622707 rs545644807	140	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA171841361 rs1046749829	141	S>N		No	ClinGen TOPMed gnomAD
rs1384531515 CA370275318	142	I>M		No	ClinGen TOPMed gnomAD
CA370275326 rs1462470172 COSM1222266	144	L>F	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs201586475 CA4622710	145	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs751592728 CA4622712	147	D>A		No	ClinGen ExAC gnomAD
rs150449267 CA171841365	147	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs150449267 CA4622711	147	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs544801985 CA4622713	148	F>L		No	ClinGen 1000Genomes ExAC gnomAD
CA370275357 rs1425065494	148	F>Y		No	ClinGen gnomAD
rs372023304 CA4622714	149	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs755844852 CA370275375	151	A>D		No	ClinGen ExAC gnomAD
CA4622716 rs755844852	151	A>G		No	ClinGen ExAC gnomAD
rs750420468 CA4622715	151	A>P		No	ClinGen ExAC gnomAD
rs145368954 CA370275381	152	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs145368954 CA4622718	152	N>T		No	ClinGen 1000Genomes ExAC gnomAD
CA4622719 rs754618947	153	M>R		No	ClinGen ExAC TOPMed gnomAD
CA370275387 rs754618947	153	M>T		No	ClinGen ExAC TOPMed gnomAD
rs149161264 CA4622720	156	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA370275420 rs1462877805	157	I>M		No	ClinGen gnomAD
rs771759293 CA4622722	157	I>T		No	ClinGen ExAC gnomAD
CA370275416 rs1362498172	157	I>V		No	ClinGen TOPMed
rs776992762 CA4622723	158	A>T		No	ClinGen ExAC gnomAD
CA171841392 rs1017023808	158	A>V		No	ClinGen TOPMed gnomAD
CA4622726 rs770206966	159	L>F		No	ClinGen ExAC TOPMed gnomAD
CA4622728 rs763252760	161	L>P		No	ClinGen ExAC TOPMed gnomAD
rs548262793 CA4622729	162	L>V		No	ClinGen ExAC gnomAD
CA370275445 rs774598480	163	A>S		No	ClinGen ExAC gnomAD
CA4622730 rs774598480	163	A>T		No	ClinGen ExAC gnomAD
CA370275452 rs1407837010	164	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1335460586 CA370275459	165	P>R		No	ClinGen gnomAD
CA4622732 rs767639457	166	I>M		No	ClinGen ExAC TOPMed gnomAD
rs750320537 CA4622733	167	K>E		No	ClinGen ExAC TOPMed gnomAD
CA4622734 rs756013102	168	L>F		No	ClinGen ExAC TOPMed gnomAD
rs756013102 CA4622735	168	L>V		No	ClinGen ExAC TOPMed gnomAD
rs147051442 CA4622738	169	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4622740 rs778688749	170	D>N		No	ClinGen ExAC gnomAD
rs757978888 CA4622742	172	K>*		No	ClinGen ExAC gnomAD
rs1563537738 CA370275500	172	K>R		No	ClinGen Ensembl
TCGA novel	173	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1326725451 CA370275506	173	V>M		No	ClinGen TOPMed
rs746519268 CA4622745	174	P>T		No	ClinGen ExAC TOPMed gnomAD
rs770290935 CA4622746	175	I>V		No	ClinGen ExAC gnomAD
rs749624174 CA171841460	178	P>H		No	ClinGen ExAC gnomAD
rs749624174 CA4622748	178	P>R		No	ClinGen ExAC gnomAD
CA370275536 rs1446425554	178	P>S		No	ClinGen gnomAD
rs145078199 CA370275542	179	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs145078199 CA4622750	179	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs145078199 COSM1551070 CA4622749	179	T>R	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs772281240 CA4622752	181	P>S		No	ClinGen ExAC TOPMed gnomAD
CA370275551 rs772281240	181	P>T		No	ClinGen ExAC TOPMed gnomAD
rs766299528 CA4622755	182	G>D		No	ClinGen ExAC gnomAD
CA4622754 rs760691986	182	G>S		No	ClinGen ExAC gnomAD
rs1304305533 CA370275561	183	P>A		No	ClinGen TOPMed gnomAD
CA370275568 rs1403496838	184	A>S		No	ClinGen gnomAD
CA370275571 rs1300776718	184	A>V		No	ClinGen gnomAD
CA370275579 rs1241267312	186	W>R		No	ClinGen TOPMed gnomAD
CA171841517 rs748394154	186	W>S		No	ClinGen Ensembl
CA4622756 rs138866592	187	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141913017 CA4622757	187	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA4622760 rs569722097 COSM1222267	188	E>K	Variant assessed as Somatic; 0.0 impact. oesophagus large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA4622761 COSM3953163 rs569722097	188	E>Q	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA370275596 rs1489770688	189	C>R		No	ClinGen gnomAD
CA4622762 rs547973389	189	C>W		No	ClinGen 1000Genomes ExAC gnomAD
rs1250793583 CA370275606	190	W>*		No	ClinGen gnomAD
rs567962166 CA4622764	190	W>C		No	ClinGen 1000Genomes ExAC gnomAD
rs1585871382 CA370275604	190	W>R		No	ClinGen Ensembl
CA4622765 CA370275612 rs200269616	191	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4622766 rs769001784	192	A>V		No	ClinGen ExAC gnomAD
CA370275634 CA4622768 rs571129421	194	W>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA171841544 rs367578404	195	G>D		No	ClinGen ESP TOPMed gnomAD
rs772288284 CA171841543	195	G>R		No	ClinGen ExAC TOPMed gnomAD
CA4622769 rs772288284	195	G>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	196	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	196	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370275650 rs1293375667	197	T>S		No	ClinGen gnomAD
rs770975510 CA4622772	198	N>K		No	ClinGen ExAC TOPMed gnomAD
CA4622771 rs760276505	198	N>S		No	ClinGen ExAC TOPMed gnomAD
CA4622773 rs776707006	199	A>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA370275689 rs1304337591	202	K>E		No	ClinGen gnomAD
rs770050467 CA4622811	203	N>I		No	ClinGen ExAC
CA370275702 rs1313573572	203	N>K		No	ClinGen gnomAD
rs749248130 CA370275706	204	S>C		No	ClinGen ExAC TOPMed gnomAD
rs749248130 CA4622813	204	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs775558845 CA4622812	204	S>P		No	ClinGen ExAC gnomAD
TCGA novel	204	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370275714 rs1445577183	206	K>E		No	ClinGen Ensembl
rs773954685 CA4622815	206	K>N		No	ClinGen ExAC gnomAD
rs202134590 CA4622816 COSM272176	207	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs930526790 CA171842616	207	T>P		No	ClinGen TOPMed
rs1487161743 CA370275726	208	D>Y		No	ClinGen TOPMed gnomAD
CA171842624 rs750412905	209	L>M		No	ClinGen TOPMed gnomAD
CA370275732 rs750412905	209	L>V		No	ClinGen TOPMed gnomAD
CA370275742 rs1585873886	210	M>I		No	ClinGen Ensembl
CA370275757 rs4406360	212	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1480986971 CA370275754	212	A>P		No	ClinGen gnomAD
VAR_042526 rs4406360 CA4622819	212	A>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA370275763 rs1413965406	213	P>L		No	ClinGen TOPMed gnomAD
rs1413965406 CA370275762	213	P>R		No	ClinGen TOPMed gnomAD
CA370275769 rs1440055536	214	M>I		No	ClinGen TOPMed
rs753395266 CA4622821	214	M>V		No	ClinGen ExAC TOPMed gnomAD
CA4622822 rs763312969	215	V>A		No	ClinGen ExAC gnomAD
rs530881285 CA171842629	216	I>F		No	ClinGen Ensembl
CA370275782 rs1398124854	216	I>M		No	ClinGen TOPMed gnomAD
rs751831013 CA4622825	217	M>T		No	ClinGen ExAC TOPMed gnomAD
rs764684891 CA4622824	217	M>V		No	ClinGen ExAC gnomAD
CA171842641 rs867953437	218	D>N		No	ClinGen Ensembl
CA171842648 rs943985259	219	W>C		No	ClinGen Ensembl
CA4622826 rs150767306	219	W>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1393028989 CA370275798	219	W>R		No	ClinGen TOPMed
CA370275804 rs1440090921	220	E>Q		No	ClinGen TOPMed
rs1381724846 CA370275809	220	E>V		No	ClinGen TOPMed
rs569776917 CA4622827	221	E>A		No	ClinGen 1000Genomes ExAC gnomAD
CA4622828 rs750734708	221	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1343924356 CA370275812	221	E>K		No	ClinGen TOPMed gnomAD
CA370275814 rs1343924356	221	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA4622829 rs535561016	222	C>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs780213255 CA4622830	223	S>*		No	ClinGen ExAC TOPMed gnomAD
CA4622832 rs367685038 COSM180611	224	K>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs749397748 CA4622831	224	K>Q		No	ClinGen ExAC gnomAD
rs139167926 CA4622833	225	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1623445 rs1278823313 CA370275840	225	M>T	liver [Cosmic]	No	ClinGen cosmic curated TOPMed
CA370275851 rs1354900038	226	F>L		No	ClinGen TOPMed
rs1245199416 CA370275854	227	P>A		No	ClinGen gnomAD
rs747864384 CA4622834	227	P>L		No	ClinGen ExAC gnomAD
rs1563539308 CA370275864	228	K>N		No	ClinGen Ensembl
CA370275862 rs1159194010	228	K>T		No	ClinGen gnomAD
rs200899379 CA4622835	229	L>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	229	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	229	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772836028 CA4622837	232	N>D		No	ClinGen ExAC gnomAD
CA370275886 rs1366125244	232	N>T		No	ClinGen gnomAD
CA370275893 rs1330129541	233	M>T		No	ClinGen gnomAD
rs145921629 CA171842702	233	M>V		No	ClinGen 1000Genomes gnomAD
rs1442426895 CA370275900	234	L>V		No	ClinGen gnomAD
CA4622839 rs770586297	235	C>R		No	ClinGen ExAC TOPMed gnomAD
rs370693468 CA4622840	235	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
COSM3269666 CA171842709 rs866683259	236	A>V	central_nervous_system [Cosmic]	No	ClinGen cosmic curated TOPMed
CA370275919 rs1312221799	237	G>E		No	ClinGen TOPMed
CA4622842 rs149483545	237	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs762257685 CA4622845	239	K>*		No	ClinGen ExAC gnomAD
CA4622846 rs768063880	239	K>T		No	ClinGen ExAC gnomAD
rs182279550 CA370275941	240	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	241	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs865949828 CA171842714	241	E>K		No	ClinGen Ensembl
CA370275950 rs1437838808	242	S>G		No	ClinGen gnomAD
rs780341470 CA4622849	242	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1389703630 CA370275983	246	C>*		No	ClinGen TOPMed gnomAD
CA4622852 rs374590646	246	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA4622886 rs776714202	248	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1176621315 CA370276018	249	D>E		No	ClinGen gnomAD
CA370276021 rs1430993221	250	S>G		No	ClinGen gnomAD
rs765401698 CA4622889	250	S>N		No	ClinGen ExAC gnomAD
CA4622893 rs758514798	252	G>A		No	ClinGen ExAC TOPMed gnomAD
CA4622892 rs758514798	252	G>E		No	ClinGen ExAC TOPMed gnomAD
CA370276033 rs1402077668	252	G>R		No	ClinGen gnomAD
rs751829343	253	P>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA4622895 rs141414987	253	P>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs751829343	253	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA4622896 rs780977354	254	L>P		No	ClinGen ExAC TOPMed gnomAD
CA171850519 rs550663063	254	L>V		No	ClinGen Ensembl
CA4622897 rs745667490	256	C>Y		No	ClinGen ExAC gnomAD
CA171850535 rs894308732	257	T>I		No	ClinGen TOPMed gnomAD
rs140412227 CA4622899	258	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4622901 rs768327437	258	P>L		No	ClinGen ExAC TOPMed gnomAD
rs140412227 CA4622900	258	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1487806224 CA370276068	259	E>*		No	ClinGen gnomAD
rs200500250 CA4622903	260	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1351933288 CA370276083	261	G>A		No	ClinGen TOPMed gnomAD
rs1270584562 CA370276080	261	G>R		No	ClinGen TOPMed gnomAD
rs1431132450 CA370276087	262	E>*		No	ClinGen gnomAD
CA370276094 rs1197520611	263	K>E		No	ClinGen TOPMed gnomAD
rs771345596 CA4622904	265	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA4622905 rs776995885	266	Q>*		No	ClinGen ExAC gnomAD
rs759849898 CA4622906	266	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA4622909 rs372320879	267	V>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4622908 rs775739468	267	V>L		No	ClinGen ExAC TOPMed gnomAD
CA4622911 rs144166129	268	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA370276127 rs1418749892	268	G>S		No	ClinGen TOPMed
rs1474307876 CA370276136	269	I>T		No	ClinGen TOPMed
rs6601483 CA370276144	270	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA171850632 rs755263101	270	I>T		No	ClinGen Ensembl
rs1242422760 CA370276145	271	S>R		No	ClinGen gnomAD
CA171850655 CA370276150 rs190614928	271	S>R		No	ClinGen 1000Genomes ExAC gnomAD
CA4622914 rs61743179	271	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA171850658 rs953559494	272	W>R		No	ClinGen TOPMed
CA370276164 rs1278244903	273	G>A		No	ClinGen gnomAD
rs753600571 CA4622917	274	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA370276177 rs1487394154	275	S>N		No	ClinGen gnomAD
CA4622918 rs754528938	277	G>A		No	ClinGen ExAC TOPMed gnomAD
rs1212688023 CA370276188	277	G>R		No	ClinGen gnomAD
CA4622920 rs1554584022	278	E>*		No	ClinGen Ensembl
CA370276198 rs1133417 CA4622922	278	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1176314858 CA370276203	279	K>R		No	ClinGen TOPMed gnomAD
rs1176314858 CA370276202	279	K>T		No	ClinGen TOPMed gnomAD
CA171850704 rs377316926	280	N>I		No	ClinGen ESP
rs746223991 CA4622925	281	T>I		No	ClinGen ExAC gnomAD
CA370276214 rs1439674603	281	T>P		No	ClinGen gnomAD
rs770204100 CA4622926	282	P>A		No	ClinGen ExAC TOPMed gnomAD
rs775688348 CA4622927	282	P>R		No	ClinGen ExAC gnomAD
rs770204100 CA370276220	282	P>T		No	ClinGen ExAC TOPMed gnomAD
CA4622928 rs763096976	283	G>R		No	ClinGen ExAC gnomAD
rs774369842 CA370276229	284	I>L		No	ClinGen ExAC TOPMed gnomAD
CA4622931 rs761826111	284	I>R		No	ClinGen ExAC TOPMed gnomAD
rs774369842 CA4622930	284	I>V		No	ClinGen ExAC TOPMed gnomAD
rs767454552 CA370276244	286	T>N		No	ClinGen ExAC TOPMed gnomAD
rs767454552 CA4622932	286	T>S		No	ClinGen ExAC TOPMed gnomAD
CA171850776 COSM1094448 rs974478714	287	S>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1314779967 CA370276248	287	S>P		No	ClinGen gnomAD
TCGA novel	289	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370276276 rs1196185614	291	Y>C		No	ClinGen gnomAD
CA4622937 rs766342276	293	L>F		No	ClinGen ExAC TOPMed gnomAD
rs753689153 CA4622938	293	L>P		No	ClinGen ExAC gnomAD
CA370276299 rs1254613922	294	W>*		No	ClinGen TOPMed
CA4622941 rs752222001	294	W>L		No	ClinGen ExAC gnomAD
CA171850799 rs753193702	295	I>M		No	ClinGen gnomAD
CA370276301 rs1422416545	295	I>V		No	ClinGen gnomAD
CA4622942 rs546477008	296	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781716467 CA4622943	299	T>I		No	ClinGen ExAC TOPMed gnomAD
rs781716467 CA171850814	299	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1563543593 CA370276332	300	Q>E		No	ClinGen Ensembl
CA4622944 rs746431603	300	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs146805637 CA4622945	301	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA370276339 rs1585883331	301	L>V		No	ClinGen Ensembl
rs1294126182 CA370276342	302	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA171850889 rs924183463	303	G>D		No	ClinGen Ensembl
rs1227505298 CA370276357	304	R>T		No	ClinGen gnomAD
rs140620637 CA4622946	304	R>W		No	ClinGen ESP ExAC gnomAD
CA370276365 rs1328290170	305	P>L		No	ClinGen TOPMed
CA4622947 rs749679391	305	P>T		No	ClinGen ExAC TOPMed
rs1216373504 CA370276370	306	F>C		No	ClinGen gnomAD
CA4622949 rs774472305	306	F>V		No	ClinGen ExAC gnomAD
CA4622950 rs748233564	307	N>D		No	ClinGen ExAC TOPMed gnomAD
CA4622952 rs773195990	307	N>K		No	ClinGen ExAC TOPMed gnomAD
CA4622951 rs772097735	307	N>S		No	ClinGen ExAC gnomAD
CA370276378 rs1490369048	308	A>T		No	ClinGen Ensembl
rs1046065114 CA171850933	309	E>Q		No	ClinGen TOPMed
CA171850944 rs867822667	311	R>K		No	ClinGen Ensembl
CA4622955 rs766432198	311	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1482585544 CA370276406	312	R>T		No	ClinGen gnomAD
rs1421119703 CA370276412	313	T>A		No	ClinGen gnomAD
CA4622957 rs759444299	313	T>N		No	ClinGen ExAC gnomAD
rs1168724426 CA370276419	314	S>F		No	ClinGen gnomAD
rs764961582 CA4622958	314	S>P		No	ClinGen ExAC gnomAD
TCGA novel	314	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA171850956 rs893969297	316	K>*		No	ClinGen gnomAD
CA370276427 rs893969297	316	K>Q		No	ClinGen gnomAD
TCGA novel	318	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757923057 CA4622960	319	P>H		No	ClinGen ExAC gnomAD
CA370276453 rs757923057	319	P>L		No	ClinGen ExAC gnomAD
rs752352310 CA4622959	319	P>S		No	ClinGen ExAC gnomAD
TCGA novel CA171850993 rs1045104569	320	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen TOPMed
CA4622961 rs200907557	321	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200907557 CA4622962	321	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1467754837 CA370276469	322	S>Y		No	ClinGen TOPMed
rs1397925879 CA580030344	323	P>*		No	ClinGen gnomAD
CA370276476 rs1342074084	323	P>L		No	ClinGen gnomAD
rs962020963 CA171851017	323	P>S		No	ClinGen TOPMed gnomAD
CA370276477 rs756568647	324	V>I		No	ClinGen ExAC gnomAD
CA4622963 rs756568647	324	V>L		No	ClinGen ExAC gnomAD
CA4622964 rs148900231	325	S>L		No	ClinGen ESP TOPMed gnomAD
CA4622967 rs749617900	326	G>A		No	ClinGen ExAC gnomAD
CA370276488 rs1306093188	326	G>R		No	ClinGen TOPMed
rs1275952615 CA370276493	327	V>L		No	ClinGen gnomAD
rs143626876 CA4622969	328	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs772341265 CA4622971	331	G>R		No	ClinGen ExAC TOPMed gnomAD
CA4622972 rs762088051	331	G>V		No	ClinGen ExAC gnomAD
rs1478509877 COSM1551068 CA370276525	332	S>I	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs747106706 CA171851089	332	S>R		No	ClinGen ExAC gnomAD
rs367986560 CA4622976	333	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA4622975 rs367986560	333	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA370276536 rs1394481817	334	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA370276542 rs759392928	335	S>C		No	ClinGen ExAC gnomAD
CA4622978 rs759392928	335	S>Y		No	ClinGen ExAC gnomAD
rs1307443659 CA370276549	336	W>*		No	ClinGen TOPMed
CA171851110 rs371095952	336	W>C		No	ClinGen ESP gnomAD
CA370276559 rs1585883645	338	L>V		No	ClinGen Ensembl
CA4622981 rs148061575	341	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4622982 rs537414284	341	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4622984 rs750997870	342	L>P		No	ClinGen ExAC gnomAD
rs766846358 CA4622986	343	S>C		No	ClinGen ExAC TOPMed gnomAD
CA171851182 rs766846358	343	S>F		No	ClinGen ExAC TOPMed gnomAD
rs755329921 CA4622988	344	H>Q		No	ClinGen ExAC gnomAD
CA4622987 rs754398318	344	H>R		No	ClinGen ExAC TOPMed gnomAD
CA370276616 rs1223970716	348	R>G		No	ClinGen gnomAD
CA171851193 rs974594504	348	R>T		No	ClinGen Ensembl
rs778087515 CA370276624	349	A>G		No	ClinGen ExAC gnomAD
CA4622990 rs574206262	349	A>S		No	ClinGen 1000Genomes ExAC gnomAD
CA4622991 rs574206262	349	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs778087515 CA4622992	349	A>V		No	ClinGen ExAC gnomAD
CA370276639 rs1249248696	352	Y>N		No	ClinGen TOPMed
rs948570705 CA171851202	353	Y>G		No	ClinGen TOPMed gnomAD
CA370276648 rs948570705	353	Y>R		No	ClinGen TOPMed gnomAD
rs112308687 CA171851203	353	Y>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD

No associated diseases with Q6UWB4

3 regional properties for Q6UWB4

Type	Name	Position	InterPro Accession
domain	Serine proteases, trypsin domain	67 - 300	IPR001254
active_site	Serine proteases, trypsin family, histidine active site	104 - 109	IPR018114
active_site	Serine proteases, trypsin family, serine active site	244 - 255	IPR033116

Functions

		Description
EC Number
Subcellular Localization	[Isoform 1]: Cell membrane ; Lipid-anchor, GPI-anchor Cytoplasm, cytosol	Mainly found in the membrane part of the cells and only in small amounts in the cytosol
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
acrosomal vesicle	A structure in the head of a spermatozoon that contains acid hydrolases, and is concerned with the breakdown of the outer membrane of the ovum during fertilization. It lies just beneath the plasma membrane and is derived from the lysosome.
anchored component of membrane	The component of a membrane consisting of the gene products that are tethered to the membrane only by a covalently attached anchor, such as a lipid group that is embedded in the membrane. Gene products with peptide sequences that are embedded in the membrane are excluded from this grouping.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

1 GO annotations of molecular function

Name	Definition
serine-type endopeptidase activity	Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine).

3 GO annotations of biological process

Name	Definition
binding of sperm to zona pellucida	The process in which the sperm binds to the zona pellucida glycoprotein layer of the egg. The process begins with the attachment of the sperm plasma membrane to the zona pellucida and includes attachment of the acrosome inner membrane to the zona pellucida after the acrosomal reaction takes place.
flagellated sperm motility	The directed, self-propelled movement of a cilium (aka flagellum) that contributes to the movement of a flagellated sperm.
proteolysis	The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds.

11 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P05049	snk	Serine protease snake	Drosophila melanogaster (Fruit fly)	PR
P35030	PRSS3	Trypsin-3	Homo sapiens (Human)	PR
E5RG02	PRSS46P	Putative serine protease 46	Homo sapiens (Human)	PR
P0CW18	PRSS56	Serine protease 56	Homo sapiens (Human)	PR
Q9UI38	PRSS50	Probable threonine protease PRSS50	Homo sapiens (Human)	PR
P15119	Mcpt2	Mast cell protease 2	Mus musculus (Mouse)	PR
Q9DBI0	Tmprss6	Transmembrane protease serine 6	Mus musculus (Mouse)	PR
P98064	Masp1	Mannan-binding lectin serine protease 1	Mus musculus (Mouse)	PR
Q402U7	Prss44	Serine protease 44	Mus musculus (Mouse)	PR
Q8CHN8	Masp1	Mannan-binding lectin serine protease 1	Rattus norvegicus (Rat)	PR
Q6IE63	Prss46	Serine protease 46	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MLLFSVLLLL	SLVTGTQLGP	RTPLPEAGVA	ILGRARGAHR	PQPPHPPSPV	SECGDRSIFE
70	80	90	100	110	120
GRTRYSRITG	GMEAEVGEFP	WQVSIQARSE	PFCGGSILNK	WWILTAAHCL	YSEELFPEEL
130	140	150	160	170	180
SVVLGTNDLT	SPSMEIKEVA	SIILHKDFKR	ANMDNDIALL	LLASPIKLDD	LKVPICLPTQ
190	200	210	220	230	240
PGPATWRECW	VAGWGQTNAA	DKNSVKTDLM	KAPMVIMDWE	ECSKMFPKLT	KNMLCAGYKN
250	260	270	280	290	300
ESYDACKGDS	GGPLVCTPEP	GEKWYQVGII	SWGKSCGEKN	TPGIYTSLVN	YNLWIEKVTQ
310	320	330	340	350
LEGRPFNAEK	RRTSVKQKPM	GSPVSGVPEP	GSPRSWLLLC	PLSHVLFRAI	LY