AiPD: Autoinhibited Protein Database

Q5VV43

Gene name	KIAA0319
Protein name	Dyslexia-associated protein KIAA0319
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9856
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

136-206 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

136-206 (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

2 structures for Q5VV43

Entry ID	Method	Resolution	Chain	Position	Source
2E7M	NMR	-	A	329-428	PDB
AF-Q5VV43-F1	Predicted				AlphaFoldDB

954 variants for Q5VV43

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs755681686 CA3657960	2	A>V		No	ClinGen ExAC TOPMed gnomAD
CA362974794 rs1203025672	3	P>T		No	ClinGen TOPMed
rs757171795 CA136133553	4	P>L		No	ClinGen TOPMed gnomAD
TCGA novel	6	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3657956 rs374548451	6	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	8	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs148886527 CA3657952	9	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA362974682 rs1358365944	12	L>P		No	ClinGen gnomAD
rs773156714 CA3657950	16	T>K		No	ClinGen ExAC gnomAD
rs767849616 CA3657949	17	I>V		No	ClinGen ExAC TOPMed gnomAD
CA362974597 rs1169839972	18	A>T		No	ClinGen gnomAD
rs1284847413 CA362973714	20	C>*		No	ClinGen gnomAD
CA362973711 rs1284847413	20	C>W		No	ClinGen gnomAD
CA3657921 rs143534698	22	R>C		No	ClinGen ESP ExAC gnomAD
CA362973691 rs143534698	22	R>G		No	ClinGen ESP ExAC gnomAD
rs529788093 CA3657919	22	R>H		No	ClinGen ExAC TOPMed gnomAD
CA3657920 rs529788093	22	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1454056021 CA362973682	23	K>T		No	ClinGen TOPMed gnomAD
rs1299145378 CA362973665	24	Q>*		No	ClinGen gnomAD
CA3657918 rs548596582	25	C>R		No	ClinGen 1000Genomes ExAC gnomAD
rs758113949 CA3657916	27	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1401911854 CA362973595	28	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA362973585 rs1156244051	29	R>K		No	ClinGen gnomAD
TCGA novel	32	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362973464 rs1158243587	35	V>A		No	ClinGen gnomAD
CA3657913 rs756447154	39	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA362973363 rs1174587755	40	L>F		No	ClinGen TOPMed gnomAD
CA3657912 rs750917918	43	T>I		No	ClinGen ExAC gnomAD
CA3657911 rs767973061	46	M>T		No	ClinGen ExAC TOPMed gnomAD
CA362973219 rs146425524	47	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs146425524 CA3657908	47	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA3657910 rs143926418	47	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs763089454 CA362973187	49	S>C		No	ClinGen ExAC TOPMed gnomAD
rs763089454 CA3657907	49	S>F		No	ClinGen ExAC TOPMed gnomAD
rs764963803 CA3657905	50	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1562029455 CA362973144	51	T>I		No	ClinGen Ensembl
rs1232254575 CA362973138	52	F>L		No	ClinGen TOPMed gnomAD
rs776745645 CA3657903	52	F>L		No	ClinGen ExAC gnomAD
CA362973108 rs1266494275	53	P>L		No	ClinGen TOPMed gnomAD
CA362973111 rs1266494275	53	P>R		No	ClinGen TOPMed gnomAD
CA3657902 rs74383346	54	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs552512704 CA3657900	55	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs552512704 CA362973091	55	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1297847756 CA362973069	57	C>R		No	ClinGen gnomAD
CA136131705 rs771546218	58	T>M		No	ClinGen ExAC TOPMed gnomAD
CA3657899 rs771546218	58	T>R		No	ClinGen ExAC TOPMed gnomAD
rs778582295 CA3657897	59	A>T		No	ClinGen ExAC gnomAD
rs770086452 COSM3728134 CA3657896	60	A>T	haematopoietic_and_lymphoid_tissue breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA3657893 rs757749627	66	S>G		No	ClinGen ExAC gnomAD
CA136131664 rs1053505540	66	S>T		No	ClinGen Ensembl
CA3657892 rs751995315	67	C>Y		No	ClinGen ExAC gnomAD
CA362972935 rs1425256519	69	L>M		No	ClinGen gnomAD
rs777842139 CA3657890	71	W>*		No	ClinGen ExAC gnomAD
CA3657888 rs560298185	73	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs999666511 CA136131640	74	E>K		No	ClinGen TOPMed gnomAD
CA3657887 rs369170001	75	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3657886 rs139103468	76	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA3657885 rs201302072	76	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs372167029 CA3657884	77	C>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA362972847 rs1342545175	77	C>Y		No	ClinGen gnomAD
CA362972840 rs1310816602	78	Y>N		No	ClinGen gnomAD
rs1401427943 CA362972822	79	L>P		No	ClinGen gnomAD
rs1395849289 CA362972826	79	L>V		No	ClinGen gnomAD
rs1446943636 CA362972795	82	C>R		No	ClinGen TOPMed
CA136131609 rs1039035204	83	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1333977906 CA362972778 COSM740988	84	H>N	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1374279170 CA362972764	85	K>E		No	ClinGen TOPMed
CA362972745 rs773230026 COSM1285717	86	E>D	autonomic_ganglia [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs780028923 CA3657881	88	C>*		No	ClinGen ExAC TOPMed gnomAD
CA362972732 rs1322634424	88	C>Y		No	ClinGen TOPMed
CA3657880 rs771508757	90	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3657879 rs367981090	91	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA362972699 rs1468411595	91	K>N		No	ClinGen TOPMed
rs773915739 CA3657878	95	P>R		No	ClinGen ExAC TOPMed gnomAD
CA362972653 rs1440105325	95	P>S		No	ClinGen gnomAD
CA136131594 rs977477829	96	I>F		No	ClinGen TOPMed
CA362972634 rs1438129410	97	R>K		No	ClinGen TOPMed
rs768334155 CA362972624	98	S>A		No	ClinGen ExAC TOPMed gnomAD
CA3657877 rs768334155	98	S>T		No	ClinGen ExAC TOPMed gnomAD
CA362972578 rs1210559185	102	F>S		No	ClinGen gnomAD
rs560701097 CA3657875	104	L>P		No	ClinGen 1000Genomes ExAC gnomAD
CA3657873 rs150735878	105	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs374371675 CA3657874	105	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs545999207 CA136131584	107	V>I		No	ClinGen Ensembl
CA3657871 rs758444280	109	R>K		No	ClinGen ExAC TOPMed gnomAD
rs1311833690 CA362972517	109	R>W		No	ClinGen gnomAD
CA362972506 rs1295998550	110	P>T		No	ClinGen TOPMed gnomAD
rs752796387 CA3657870	112	Q>*		No	ClinGen ExAC gnomAD
rs755221031 CA3657868	115	D>A		No	ClinGen ExAC gnomAD
CA362972432 rs1406635725	115	D>N		No	ClinGen gnomAD
TCGA novel	118	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362972364 rs1419862823	118	D>N		No	ClinGen gnomAD
rs1419862823 CA362972359	118	D>Y		No	ClinGen gnomAD
CA362972296 rs1332855385	119	M>I		No	ClinGen TOPMed
CA362972331 rs1381771821	119	M>K		No	ClinGen gnomAD
rs1438825314 CA362972277	120	M>I		No	ClinGen gnomAD
rs1156669563 CA362972286	120	M>K		No	ClinGen gnomAD
rs755928541 CA3657864	122	N>H		No	ClinGen ExAC gnomAD
rs767458937 CA3657862	123	R>T		No	ClinGen ExAC TOPMed gnomAD
CA362972219 rs761278393	124	G>A		No	ClinGen ExAC TOPMed gnomAD
CA3657861 rs761278393	124	G>D		No	ClinGen ExAC TOPMed gnomAD
CA136131540 rs761278393	124	G>V		No	ClinGen ExAC TOPMed gnomAD
rs148566925 CA3657860	126	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762607005 CA3657858	127	S>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	128	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775072670 CA3657857	128	G>W		No	ClinGen ExAC gnomAD
rs747342245 CA3657855	129	I>N		No	ClinGen ExAC TOPMed gnomAD
rs747342245 CA3657856	129	I>T		No	ClinGen ExAC TOPMed gnomAD
CA362972155 rs1328857456	130	W>L		No	ClinGen TOPMed gnomAD
rs1328857456 CA362972156	130	W>S		No	ClinGen TOPMed gnomAD
CA362972133 rs1322385873	131	G>A		No	ClinGen gnomAD
rs1348993905 CA3657850	132	D>E		No	ClinGen gnomAD
TCGA novel	132	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3657853 rs772614758	132	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1410896394 CA362972064	134	P>H		No	ClinGen Ensembl
CA362972055 rs1410896394	134	P>L		No	ClinGen Ensembl
CA3657849 rs748240544	134	P>S		No	ClinGen ExAC TOPMed gnomAD
rs779052215 CA3657848	139	K>N		No	ClinGen ExAC gnomAD
rs1562027234 CA362971943	139	K>R		No	ClinGen Ensembl
rs1487987823 CA362971924	140	D>H		No	ClinGen gnomAD
rs4576240 CA362971881	142	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3657846 rs749548042	142	T>N		No	ClinGen ExAC gnomAD
CA3657847 VAR_023837 rs4576240	142	T>P		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs4576240 CA362971879	142	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA362971840 rs1198852432	145	G>S		No	ClinGen TOPMed gnomAD
rs780387342 CA3657845	146	K>N		No	ClinGen ExAC gnomAD
rs371920164 CA3657844	147	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA362971764 rs1279704787	148	W>C		No	ClinGen gnomAD
CA3657842 rs767414223	148	W>R		No	ClinGen ExAC gnomAD
CA3657841 rs368778324	149	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs375547852 CA3657838	151	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA3657839 rs375547852	151	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA362971651 rs1341789540	153	M>I		No	ClinGen gnomAD
CA3657836 rs775162556	155	E>D		No	ClinGen ExAC gnomAD
CA362971616 rs1398942254	156	Y>C		No	ClinGen gnomAD
CA3657835 rs73727343	157	S>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA362971598 rs1342828593	158	D>N		No	ClinGen gnomAD
rs139300467 CA3657834	161	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs147251392 CA3657832	161	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139300467 CA3657833	161	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370956582 CA362971545	162	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs370956582 CA3657831	162	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA362971520 rs1280594494	164	E>Q		No	ClinGen TOPMed
CA136131447 rs902652002	168	L>W		No	ClinGen Ensembl
CA3657830 rs774674895	171	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1212737666 CA362971413	174	Q>E		No	ClinGen gnomAD
rs768892922 CA3657829	174	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA362971406 rs867760699	175	E>*		No	ClinGen TOPMed gnomAD
rs200551990 CA3657827	175	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA136131439 rs867760699	175	E>K		No	ClinGen TOPMed gnomAD
rs1319401780 CA362971388	178	G>R		No	ClinGen gnomAD
CA362971365 rs1379516390	181	E>G		No	ClinGen gnomAD
rs138139227 CA3657825	181	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3657824 rs150437529	183	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA3657823 rs150437529	183	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs150437529 CA136131418	183	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA362971331 rs1445581741	186	G>C		No	ClinGen gnomAD
rs201580156 CA3657822	187	L>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3657819 rs752186089	189	P>L		No	ClinGen ExAC TOPMed gnomAD
CA136131384 rs761333463	189	P>S		No	ClinGen TOPMed gnomAD
CA3657817 rs759190220	190	G>C		No	ClinGen ExAC gnomAD
rs1472026110 CA362971310	190	G>V		No	ClinGen TOPMed gnomAD
CA362971308 rs1242854829	191	S>G		No	ClinGen gnomAD
CA3657815 rs767949638	192	E>K		No	ClinGen ExAC TOPMed gnomAD
rs762046682 CA3657814	196	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1354661323 CA362971263	197	S>Y		No	ClinGen TOPMed
rs769264904 CA3657812	200	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3657813 rs377520480	200	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs374271878 CA3657811	201	D>G		No	ClinGen ESP ExAC gnomAD
CA136131340 rs1029114353	201	D>N		No	ClinGen TOPMed
rs1226203731 CA362971238	202	S>G		No	ClinGen gnomAD
CA362971236 rs1199416734	202	S>N		No	ClinGen TOPMed
rs1381776728 CA362971227	203	P>L		No	ClinGen gnomAD
CA3657810 rs775708495	204	A>V		No	ClinGen ExAC TOPMed gnomAD
CA362971208 rs1374643432	207	A>T		No	ClinGen gnomAD
CA136131314 COSM183778 rs141114963	207	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD
CA3657806 rs146508644	209	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA3657807 rs146508644	209	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA136131297 rs145256717	210	Q>*		No	ClinGen ESP TOPMed gnomAD
CA136131295 rs370950095	212	D>Y		No	ClinGen Ensembl
rs777741942 CA3657804	213	P>L		No	ClinGen ExAC gnomAD
CA362971167 rs1332933053	213	P>S		No	ClinGen TOPMed
CA3657803 rs758324011	215	L>V		No	ClinGen ExAC gnomAD
CA3657802 rs752561774	216	H>R		No	ClinGen ExAC gnomAD
rs113746473 CA136131263	218	L>V		No	ClinGen ExAC gnomAD
rs538982124 CA3657800	219	N>K		No	ClinGen 1000Genomes ExAC gnomAD
rs371002753 CA3657799	221	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA362971052 rs1562025272	224	T>I		No	ClinGen Ensembl
rs377674724 CA136131213	226	A>P		No	ClinGen ExAC
rs377674724 CA3657796	226	A>S		No	ClinGen ExAC
rs764765198 CA3657795	226	A>V		No	ClinGen ExAC
CA136131210 rs1041982202	227	P>L		No	ClinGen TOPMed gnomAD
rs763559461 CA3657794	229	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1562025047 CA362970978	232	R>G		No	ClinGen Ensembl
rs1242099216 CA362970964	232	R>K		No	ClinGen TOPMed gnomAD
CA136131208 rs376642627	233	S>R		No	ClinGen ESP TOPMed
CA3657792 rs770022917	234	V>L		No	ClinGen ExAC gnomAD
TCGA novel	237	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	237	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3657791 rs759502249	239	P>A		No	ClinGen ExAC gnomAD
CA3657790 rs544402125	239	P>L		No	ClinGen ExAC TOPMed gnomAD
CA362970890 rs544402125	239	P>R		No	ClinGen ExAC TOPMed gnomAD
CA3657789 rs771044960	240	T>I		No	ClinGen ExAC gnomAD
rs543641452 CA136131187	243	S>F		No	ClinGen Ensembl
rs777545673 CA3657786	244	S>L		No	ClinGen ExAC gnomAD
CA362970825 rs1421927768	246	E>K		No	ClinGen gnomAD
CA136131174 rs1045814415	247	V>L		No	ClinGen TOPMed
TCGA novel CA362970779 rs1176322000	249	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen TOPMed
rs148833009 CA3657784	250	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1448994425 CA362970746	252	K>E		No	ClinGen gnomAD
rs373988895 CA3657783	253	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs373988895 CA362970733	253	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA362970726 rs1434322537	253	A>V		No	ClinGen gnomAD
COSM1076508 rs754559914 CA3657782	255	Q>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA3657781 rs546801758	255	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
CA3657780 rs529870143	257	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
rs750031443 CA3657778	258	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3657779 rs750031443	258	E>Q		No	ClinGen ExAC gnomAD
rs940512179 CA136131129	259	Q>R		No	ClinGen TOPMed
CA362970258 rs1487195550	262	N>K		No	ClinGen TOPMed gnomAD
CA3657775 RCV000974065 rs117692893	264	S>T		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs557430583 CA136131112	266	K>E		No	ClinGen TOPMed gnomAD
rs866018266 CA136131110	266	K>R		No	ClinGen Ensembl
CA3657748 rs374591034	271	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA136141160 rs752136959	272	S>P		No	ClinGen TOPMed gnomAD
rs1425349338 CA362992497	273	H>D		No	ClinGen gnomAD
rs925057110 CA136141159	273	H>R		No	ClinGen TOPMed
CA3657746 rs773465230	274	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1259885207 CA362992457	275	L>F		No	ClinGen gnomAD
rs767707185 CA3657745	277	P>L		No	ClinGen ExAC TOPMed gnomAD
CA362992381 rs774132731	280	L>M		No	ClinGen ExAC TOPMed gnomAD
rs774132731 CA362992379	280	L>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	281	E>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3657741 rs749197241	283	S>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	283	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1452358179 CA362992274	286	T>I		No	ClinGen TOPMed gnomAD
rs1452358179 CA362992276	286	T>S		No	ClinGen TOPMed gnomAD
CA3657738 rs200499407	287	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3657737 rs781047820	288	E>V		No	ClinGen ExAC gnomAD
CA362992226 rs1236220325	290	S>I		No	ClinGen TOPMed
CA362992225 rs1395071005	290	S>R		No	ClinGen gnomAD
rs1163484193 CA362992218	291	P>L		No	ClinGen TOPMed gnomAD
rs1438559120 CA362992221	291	P>S		No	ClinGen TOPMed
rs770702551 CA3657736	292	V>A		No	ClinGen ExAC gnomAD
rs770702551 CA362992214	292	V>G		No	ClinGen ExAC gnomAD
CA3657734 rs746589276	293	L>F		No	ClinGen ExAC gnomAD
CA3657732 rs754330222	295	V>A		No	ClinGen ExAC TOPMed gnomAD
rs754330222 CA3657731	295	V>D		No	ClinGen ExAC TOPMed gnomAD
rs1403290447 CA362992201	295	V>I		No	ClinGen TOPMed
rs1351456898 CA362992196	296	T>A		No	ClinGen gnomAD
rs1436170769 CA362992191	296	T>I		No	ClinGen TOPMed gnomAD
rs756237864 CA3657729	297	P>L		No	ClinGen ExAC TOPMed gnomAD
rs756237864 CA362992180	297	P>R		No	ClinGen ExAC TOPMed gnomAD
CA362992183 rs1249827769	297	P>S		No	ClinGen gnomAD
CA136141074 rs967651774	299	S>N		No	ClinGen TOPMed
rs751748358 CA3657725	300	T>I		No	ClinGen ExAC TOPMed gnomAD
rs751748358 CA362992123	300	T>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA362992077 rs1354816429	303	S>G		No	ClinGen gnomAD
CA3657724 rs77429005	306	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA362992025 rs77429005	306	T>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1335682497 CA362991987	309	T>A		No	ClinGen gnomAD
rs775337564 CA3657722	310	S>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3657721 rs149704828	310	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA3657717 rs201597929	311	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs4504469 CA3657719	311	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs4504469 VAR_023838 CA3657718	311	A>T	may be associated with susceptibility to dyslexia [UniProt]	No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs777440605 CA3657716	312	A>T		No	ClinGen ExAC TOPMed
rs368606481 CA3657715	312	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA3657714 rs749643777	313	P>R		No	ClinGen ExAC gnomAD
TCGA novel	314	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1582093104 CA362991918	314	S>T		No	ClinGen Ensembl
rs1469625960 CA362991875	317	T>A		No	ClinGen gnomAD
CA362991873 rs1469625960	317	T>P		No	ClinGen gnomAD
CA362991837 rs1199735956	319	S>F		No	ClinGen gnomAD
rs147931286 CA3657712	321	L>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3657711 rs750862160	322	P>A		No	ClinGen ExAC gnomAD
rs773213175 CA136140970	323	I>L		No	ClinGen ExAC TOPMed gnomAD
CA362991779 rs1488824270	323	I>M		No	ClinGen gnomAD
rs773213175 CA3657710	323	I>V		No	ClinGen ExAC TOPMed gnomAD
rs867712690 CA136140958	325	P>L		No	ClinGen Ensembl
CA136140943 rs757281652	326	T>I		No	ClinGen ExAC gnomAD
rs757281652 CA3657709	326	T>N		No	ClinGen ExAC gnomAD
rs764352848 CA3657707	327	T>I		No	ClinGen ExAC gnomAD
rs764352848 CA3657708	327	T>S		No	ClinGen ExAC gnomAD
CA362991693 rs1275926190	330	R>G		No	ClinGen gnomAD
CA3657705 rs190602180	330	R>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA362990807 rs1468228009	333	K>R		No	ClinGen TOPMed gnomAD
CA3657685 rs754778449	334	E>K		No	ClinGen ExAC gnomAD
rs144797054 CA3657684	336	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1466178290 CA362990782	337	V>E		No	ClinGen gnomAD
CA3657683 rs766395204	338	S>L		No	ClinGen ExAC TOPMed gnomAD
CA3657677 rs770179605	341	D>E		No	ClinGen ExAC gnomAD
CA3657678 rs773947551	341	D>G		No	ClinGen ExAC gnomAD
rs761541132 CA3657679	341	D>N		No	ClinGen ExAC gnomAD
rs777178299 CA3657676	342	N>D		No	ClinGen ExAC
rs747404504 CA3657673	342	N>K		No	ClinGen ExAC
rs1582066641 CA362990756	342	N>T		No	ClinGen Ensembl
CA3657675 rs777178299	342	N>Y		No	ClinGen ExAC
rs777917889 CA3657672	343	L>P		No	ClinGen ExAC
CA362990747 rs1198774659	344	I>V		No	ClinGen TOPMed gnomAD
CA3657667 rs753674872	347	L>F		No	ClinGen ExAC
rs767080578 CA3657663	349	D>H		No	ClinGen ExAC TOPMed gnomAD
rs767080578 CA362990714	349	D>N		No	ClinGen ExAC TOPMed gnomAD
CA362990683 rs1345641805	350	N>I		No	ClinGen TOPMed
rs761192258 CA3657662	352	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1381994528 CA362990630	353	E>K		No	ClinGen gnomAD
CA362990595 rs1240795816	354	L>V		No	ClinGen TOPMed
rs763717482 CA3657660	355	K>N		No	ClinGen ExAC TOPMed gnomAD
CA362990538 rs1356294415	356	A>D		No	ClinGen gnomAD
rs141038527 CA3657659	356	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3657657 rs541625855	359	A>T		No	ClinGen ExAC TOPMed gnomAD
CA3657656 rs147335246	359	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs199502265 CA3657654	360	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA362990407 rs1174814764	361	A>V		No	ClinGen TOPMed
rs768997355 CA3657651	362	P>L		No	ClinGen ExAC TOPMed gnomAD
CA362990399 rs768997355	362	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs142218977 CA3657652	362	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA136138401 rs535595241	364	V>I		No	ClinGen 1000Genomes gnomAD
CA362990068 rs1223325344	366	T>A		No	ClinGen gnomAD
CA3657632 rs749543985	367	T>N		No	ClinGen ExAC gnomAD
CA136137600 rs62400525	368	Y>H		No	ClinGen Ensembl
rs1285447204 CA362989965	369	N>S		No	ClinGen gnomAD
rs1288304170 CA362989918	370	Y>C		No	ClinGen gnomAD
CA362989892 rs1448858067	371	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3657631 rs780102968	372	W>R		No	ClinGen ExAC gnomAD
CA362989731 rs1361366958	376	S>I		No	ClinGen gnomAD
CA362989723 rs1315272357	377	H>Y		No	ClinGen TOPMed
CA3657630 rs528008058	379	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA362989668 rs1582057843	379	T>I		No	ClinGen Ensembl
CA3657629 rs745630915	383	G>S		No	ClinGen ExAC TOPMed gnomAD
COSM1076504 CA362989588 rs1582057735	385	I>M	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
CA362989538 rs1158952186	388	G>E		No	ClinGen gnomAD
rs1343978027 CA362989542	388	G>R		No	ClinGen gnomAD
rs1414553401 CA362989514	389	H>Q		No	ClinGen gnomAD
CA362989507 rs1430702327	390	K>Q		No	ClinGen TOPMed gnomAD
TCGA novel	392	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1196641843 CA362989406	394	N>I		No	ClinGen gnomAD
CA362989380 rs1479937717	395	L>F		No	ClinGen gnomAD
rs780065635 CA362989340	396	S>A		No	ClinGen ExAC TOPMed gnomAD
CA3657627 rs757189388	396	S>C		No	ClinGen ExAC TOPMed gnomAD
CA3657628 rs780065635	396	S>T		No	ClinGen ExAC TOPMed gnomAD
CA3657625 rs777282796	397	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs763185427 CA3657597	399	S>C		No	ClinGen ExAC gnomAD
rs764679597 CA3657598	399	S>T		No	ClinGen ExAC gnomAD
rs765300257 CA362987933	400	V>F		No	ClinGen ExAC TOPMed gnomAD
CA3657595 rs765300257	400	V>I		No	ClinGen ExAC TOPMed gnomAD
rs201901067 COSM136522 CA3657593	401	G>R	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA362987901 rs1479807586	402	L>F		No	ClinGen gnomAD
CA136136708 rs149380260	403	Y>*		No	ClinGen ESP ExAC gnomAD
rs889401758 CA362987886	403	Y>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs889401758 CA136136719	403	Y>N		No	ClinGen gnomAD
rs1301575927 CA362987863	404	V>I		No	ClinGen gnomAD
CA3657589 rs190995655	406	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs190995655 CA362987792	406	K>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs771990750 CA362987772	407	V>F		No	ClinGen ExAC TOPMed gnomAD
rs771990750 CA3657588	407	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1308592290 CA362987742	408	T>I		No	ClinGen gnomAD
CA362987762 rs1336866768	408	T>S		No	ClinGen gnomAD
CA362987725 rs1395364288	409	V>A		No	ClinGen gnomAD
rs748049494 CA3657587	409	V>I		No	ClinGen ExAC TOPMed gnomAD
rs778301487 CA3657586	411	S>G		No	ClinGen ExAC gnomAD
rs1449367757 CA362987686	411	S>N		No	ClinGen Ensembl
CA362987657 rs1277708946	412	E>G		No	ClinGen TOPMed
CA362987596 rs779822807	414	A>D		No	ClinGen ExAC gnomAD
rs779822807 CA3657583	414	A>G		No	ClinGen ExAC gnomAD
rs377274531 COSM183777 CA3657584	414	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA362987557 rs1470502810	416	G>R		No	ClinGen TOPMed gnomAD
TCGA novel	417	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	417	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3657580 rs751963576	420	V>I		No	ClinGen ExAC TOPMed gnomAD
rs764767204 CA362987375	421	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1464416978 CA362987341	423	T>S		No	ClinGen gnomAD
CA362987336 rs758836206	424	V>I		No	ClinGen ExAC TOPMed gnomAD
rs758836206 CA3657578	424	V>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	425	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA136136626 rs919312399	425	K>R		No	ClinGen gnomAD
rs753196936 CA3657577	426	P>R		No	ClinGen ExAC gnomAD
TCGA novel	426	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3657576 rs376451243	427	A>P		No	ClinGen ExAC gnomAD
CA3657575 rs376451243	427	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1321018974 CA362986991	428	R>S		No	ClinGen gnomAD
CA3657553 rs755070863	431	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1582042512 CA362986895	431	N>T		No	ClinGen Ensembl
CA3657552 rs753910882	432	L>Q		No	ClinGen ExAC gnomAD
rs1381647801 CA362986804	435	V>I		No	ClinGen gnomAD
rs1177307245 CA362986752	436	A>V		No	ClinGen gnomAD
CA3657551 rs766377871	438	V>I		No	ClinGen ExAC gnomAD
CA362986641 rs1244258795	442	L>M		No	ClinGen gnomAD
rs750596699 CA3657549	444	E>*		No	ClinGen ExAC gnomAD
CA362986591 rs1464877623	444	E>G		No	ClinGen gnomAD
CA362986508 rs1192214849	446	T>A		No	ClinGen TOPMed
CA3657547 rs761639212	448	P>H		No	ClinGen ExAC TOPMed gnomAD
rs774205815 CA3657546	450	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs558979689 CA3657544	452	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA362986330 rs1226391705	453	L>V		No	ClinGen gnomAD
RCV000965701 rs114195393 CA3657543	454	I>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA362986264 rs1324206980	455	D>V		No	ClinGen TOPMed
rs892282646 CA136135902	456	G>D		No	ClinGen Ensembl
rs371113169 CA3657542	458	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA362985460 rs1375547073	458	Q>H		No	ClinGen gnomAD
CA362985457 rs1264267470	459	S>G		No	ClinGen TOPMed
CA136135109 rs142523157	462	D>G		No	ClinGen ESP TOPMed
rs142523157 CA362985406	462	D>V		No	ClinGen ESP TOPMed
rs983371300 CA136135077	463	T>A		No	ClinGen Ensembl
rs202167804 CA3657517	463	T>S		No	ClinGen 1000Genomes ExAC gnomAD
CA136135056 rs950654147	465	I>M		No	ClinGen TOPMed gnomAD
rs1436669953 CA362985362	466	V>M		No	ClinGen TOPMed
rs1174042930 CA362985344	467	S>T		No	ClinGen TOPMed
CA3657516 rs756237567	468	Y>C		No	ClinGen ExAC gnomAD
CA3657513 rs751677686	469	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs781339357 CA3657514	469	H>Y		No	ClinGen ExAC gnomAD
CA3657511 rs763975612	470	W>*		No	ClinGen ExAC gnomAD
CA3657510 rs758232633	471	E>G		No	ClinGen ExAC gnomAD
CA362985288 rs1434007989	471	E>K		No	ClinGen TOPMed
rs765249808 CA3657508	472	E>D		No	ClinGen ExAC gnomAD
rs752726173 CA3657509	472	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3657506 rs776207949	473	I>K		No	ClinGen ExAC gnomAD
rs776207949 CA3657507	473	I>T		No	ClinGen ExAC gnomAD
rs765748888 CA3657505	474	N>T		No	ClinGen ExAC gnomAD
rs772701496 CA3657503	475	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3657502 rs749632488	476	P>A		No	ClinGen ExAC TOPMed gnomAD
CA3657501 rs749632488	476	P>S		No	ClinGen ExAC TOPMed gnomAD
rs749632488 CA362985235	476	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1022725312 CA136134946	477	F>I		No	ClinGen Ensembl
rs113530114 CA136134936	478	I>L		No	ClinGen gnomAD
CA3657498 rs140391024	478	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3657499 rs770284155	478	I>T		No	ClinGen ExAC TOPMed gnomAD
rs113530114 CA362985210	478	I>V		No	ClinGen gnomAD
CA362985176 rs1367273827	480	E>V		No	ClinGen gnomAD
CA362985156 rs1217538235	482	T>P		No	ClinGen TOPMed
CA3657496 rs369354729	483	S>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA3657497 rs781350584	483	S>A		No	ClinGen ExAC gnomAD
CA3657495 rs369354729	483	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA362985097 rs1157819682	486	S>C		No	ClinGen gnomAD
CA362985102 rs1387059123	486	S>P		No	ClinGen gnomAD
CA136134897 rs1053734805	487	P>H		No	ClinGen TOPMed
CA3657494 rs777832355	487	P>S		No	ClinGen ExAC gnomAD
CA3657491 rs200269190	488	V>I		No	ClinGen TOPMed
CA3657489 rs151153634	490	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3657490 rs151153634	490	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754977435 CA3657488	490	R>H		No	ClinGen ExAC TOPMed gnomAD
CA362985013 rs1484881470	492	S>C		No	ClinGen gnomAD
rs753668497 CA3657486	497	G>V		No	ClinGen ExAC TOPMed gnomAD
rs765944893 CA3657485	499	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1265250521 CA362984729	500	S>T		No	ClinGen gnomAD
CA362983577 rs548250591	503	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201036276 CA136134168	503	L>W		No	ClinGen Ensembl
CA3657463 rs761470774	505	V>I		No	ClinGen ExAC gnomAD
CA362983531 rs1582021349	507	D>A		No	ClinGen Ensembl
rs1431248647 CA362983526	507	D>E		No	ClinGen gnomAD
rs143003901 CA3657461	508	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs868665292 CA136134121	509	D>N		No	ClinGen Ensembl
rs761173574 CA3657457	510	G>R		No	ClinGen ExAC TOPMed gnomAD
CA3657456 rs773437072	511	A>G		No	ClinGen ExAC gnomAD
CA362983460 rs1264163719	512	T>I		No	ClinGen gnomAD
CA362983462 rs1264163719	512	T>S		No	ClinGen gnomAD
rs1243462387 CA362983430	513	N>K		No	ClinGen gnomAD
CA3657454 rs748412638	515	T>I		No	ClinGen ExAC gnomAD
rs1407686873 CA362983405	516	T>A		No	ClinGen TOPMed gnomAD
rs768546498 CA3657450	518	A>G		No	ClinGen ExAC gnomAD
CA3657449 rs80020211	520	I>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1388514080 CA362983349	520	I>M		No	ClinGen TOPMed gnomAD
rs1162523280 CA362983343	521	V>A		No	ClinGen gnomAD
rs1321918877 CA362983333	523	N>D		No	ClinGen gnomAD
CA362983330 rs1457473564	523	N>S	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1466047475 CA362983325	524	A>P		No	ClinGen TOPMed
CA3657448 rs370110660	526	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA3657447 rs756011643	529	P>L		No	ClinGen ExAC TOPMed gnomAD
rs745750902 CA3657446	532	N>D		No	ClinGen ExAC TOPMed gnomAD
CA3657443 rs547730358	533	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs547730358 CA3657444	533	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA362983175 rs1159392952 COSM228992	534	G>E	skin [Cosmic]	No	ClinGen cosmic curated TOPMed
TCGA novel	536	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3657441 rs527877427	537	H>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3657442 rs527877427	537	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs145751673 CA3657439	538	T>P		No	ClinGen 1000Genomes ExAC gnomAD
rs761106691 CA3657438	540	T>I		No	ClinGen ExAC gnomAD
CA3657436 rs542288208	542	P>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773814986 CA362983054	542	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs773814986 CA3657437	542	P>T		No	ClinGen ExAC gnomAD
CA3657435 rs761963256	543	Q>*		No	ClinGen ExAC gnomAD
rs774771729 CA362983017	544	N>I		No	ClinGen ExAC TOPMed gnomAD
rs774771729 CA3657434	544	N>S		No	ClinGen ExAC TOPMed gnomAD
CA3657433 rs190052512	547	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA362982966 rs1330952859	548	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA136133992 rs910031918	549	N>D		No	ClinGen Ensembl
rs185594448 CA3657432	549	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA362982958 rs1382765085	549	N>S		No	ClinGen gnomAD
rs769585012 CA3657430	551	N>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel CA3657429 rs745840909	552	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC TOPMed gnomAD
rs1411536935 CA362982916	553	S>C		No	ClinGen gnomAD
rs546172104 CA3657428	553	S>R		No	ClinGen 1000Genomes ExAC gnomAD
rs756813720 CA3657427	555	D>G		No	ClinGen ExAC gnomAD
CA3657423 rs147719361	556	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA gnomAD
rs577359258 CA3657424 COSM1076502	556	D>N	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs577359258 CA3657425	556	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1250400236 CA362982819	557	H>Q		No	ClinGen TOPMed gnomAD
rs1386347816 CA362982814	558	Q>K		No	ClinGen Ensembl
rs1191064488 CA362982809	558	Q>P		No	ClinGen gnomAD
rs149834632 CA3657421	563	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs751015831 CA3657420	564	W>*		No	ClinGen ExAC TOPMed gnomAD
COSM108064 rs140493566 CA136133941	565	S>F	Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA362982645 COSM740991 rs1363778521	567	G>A	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs2744559 VAR_049505 CA3657418	567	G>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs554438841 CA3657417	568	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	570	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764178946 CA3657416	573	K>*		No	ClinGen ExAC gnomAD
CA3657415 rs763108267	573	K>T		No	ClinGen ExAC gnomAD
CA136133911 rs1033226913	575	V>M		No	ClinGen TOPMed gnomAD
CA362982443 rs1433008190	576	V>D		No	ClinGen gnomAD
rs150824948 CA362982434 CA3657414	577	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA136133907 rs970993400 COSM1442484	578	Q>R	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
TCGA novel	579	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3657390 rs777959823	580	V>A		No	ClinGen ExAC gnomAD
CA3657389 rs777959823	580	V>G		No	ClinGen ExAC gnomAD
CA362981696 rs1581997073	580	V>L		No	ClinGen Ensembl
rs1323226424 CA362981692	581	Q>*		No	ClinGen TOPMed
rs759684824 CA3657388	581	Q>L		No	ClinGen ExAC gnomAD
rs759684824 CA362981688	581	Q>R		No	ClinGen ExAC gnomAD
CA3657387 rs141398887	582	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA362981677 rs1457862706	583	P>A		No	ClinGen TOPMed
CA3657385 rs760635346	583	P>L		No	ClinGen ExAC gnomAD
CA136131942 rs200550445	584	Y>*		No	ClinGen Ensembl
TCGA novel	584	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1200008851 CA362981653	586	H>Q		No	ClinGen TOPMed
CA362981634 rs1360126635	589	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3657384 rs146550659	590	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1035864939 CA136131938	591	Q>H		No	ClinGen TOPMed
CA362981622 rs1230111681	591	Q>P		No	ClinGen TOPMed gnomAD
rs1415055368 CA362981601	593	G>V		No	ClinGen TOPMed
rs1425923808 CA362981581	594	D>E		No	ClinGen TOPMed
CA136131931 rs199526875	595	Y>D		No	ClinGen Ensembl
CA362981553 rs1369199054	596	T>A		No	ClinGen gnomAD
CA362981544 rs1163336742	597	F>L		No	ClinGen TOPMed
rs771531196 CA3657382	600	K>R		No	ClinGen ExAC gnomAD
rs747681227 CA3657381	601	V>L		No	ClinGen ExAC gnomAD
CA136131919 rs954789839	603	D>N		No	ClinGen Ensembl
TCGA novel	603	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778497597 CA3657380	604	S>C		No	ClinGen ExAC TOPMed gnomAD
CA3657379 rs146100893	605	S>L		No	ClinGen ESP ExAC gnomAD
CA362981296 rs1403101860	609	S>F		No	ClinGen gnomAD
TCGA novel	611	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1412529276 CA362981267	612	V>M		No	ClinGen gnomAD
rs142835109 CA3657377	618	Q>H		No	ClinGen ESP ExAC gnomAD
CA362981156 rs1473399479	618	Q>R		No	ClinGen gnomAD
rs1398118764 CA362981134	619	P>R		No	ClinGen TOPMed
rs967060171 CA136130616	623	R>*		No	ClinGen Ensembl
CA362980217 rs908659970	623	R>S		No	ClinGen TOPMed
CA362980207 rs1427071304	624	P>L		No	ClinGen TOPMed gnomAD
CA362980209 rs1427071304	624	P>R		No	ClinGen TOPMed gnomAD
CA136130609 rs370589927	624	P>S		No	ClinGen ESP TOPMed
CA3657359 rs775255865	625	P>L		No	ClinGen ExAC gnomAD
rs748982799 CA3657361	625	P>S		No	ClinGen ExAC gnomAD
CA3657360 rs748982799	625	P>T		No	ClinGen ExAC gnomAD
rs747391463 CA3657357	626	V>M		No	ClinGen ExAC TOPMed gnomAD
rs777929006 CA3657356	628	V>G		No	ClinGen ExAC gnomAD
rs748551202 CA3657354	630	G>S		No	ClinGen ExAC gnomAD
CA362980176 rs1296675464	631	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	632	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs997912935 CA136130580	633	K>E		No	ClinGen TOPMed gnomAD
CA136130573 rs975372147	633	K>R		No	ClinGen TOPMed gnomAD
CA3657353 rs778992185	634	E>Q		No	ClinGen ExAC gnomAD
CA362980130 rs1254198394	637	F>L		No	ClinGen TOPMed
rs1217806727 CA362980124	638	P>L		No	ClinGen gnomAD
rs1298931086 CA362980115	640	E>K		No	ClinGen gnomAD
CA136130543 rs867284164	642	A>S		No	ClinGen gnomAD
rs1319285277 CA362980097	642	A>V		No	ClinGen TOPMed gnomAD
CA362980092 rs963889019	643	T>I		No	ClinGen TOPMed gnomAD
rs1581979472 CA362980096	643	T>P		No	ClinGen Ensembl
CA136130534 rs963889019	643	T>S		No	ClinGen TOPMed gnomAD
CA362980079 rs1581979345	645	D>E		No	ClinGen Ensembl
CA362980081 rs1173728515	645	D>V		No	ClinGen gnomAD
rs755928172 CA3657349	648	S>R		No	ClinGen ExAC gnomAD
TCGA novel	650	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs547637543 CA3657346	651	D>G		No	ClinGen 1000Genomes ExAC gnomAD
CA362980020 rs1247839494	651	D>N		No	ClinGen TOPMed
CA362980016 rs1247839494	651	D>Y		No	ClinGen TOPMed
rs1581979097 CA362979995	652	D>A		No	ClinGen Ensembl
rs1208167480 CA362979978	653	H>R		No	ClinGen gnomAD
rs1257943326 CA362979961	654	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA362979964 rs1454966517	654	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA3657342 rs762533548	657	F>V		No	ClinGen ExAC gnomAD
rs1296282731 CA362979894	658	Y>*		No	ClinGen gnomAD
rs769570173 CA3657340	658	Y>C		No	ClinGen ExAC gnomAD
CA362979835 rs1396066256	661	E>D		No	ClinGen gnomAD
CA3657339 rs773644570	662	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA3657337 rs772281560	663	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs748727807 CA3657336	664	R>*		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	664	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1188766702 CA362979116	666	P>A		No	ClinGen TOPMed
CA362979026 rs1475024381	669	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA136130037 rs371500801	671	M>I		No	ClinGen ESP TOPMed gnomAD
CA362978982 rs1370896811	671	M>T		No	ClinGen TOPMed gnomAD
CA362978959 rs1278680592	672	E>K		No	ClinGen gnomAD
CA136130032 rs1009695946	679	A>P		No	ClinGen Ensembl
TCGA novel	680	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3657320 rs763966559	680	T>P		No	ClinGen ExAC gnomAD
CA136130024 rs762986199	685	Q>E		No	ClinGen Ensembl
rs1581972589 CA362978651	686	V>G		No	ClinGen Ensembl
rs868053374 CA136130021	686	V>L		No	ClinGen Ensembl
CA3657318 rs574525065	688	T>A		No	ClinGen 1000Genomes ExAC gnomAD
rs574525065 CA362978626	688	T>P		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	691	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3657316 rs774632962	692	R>C		No	ClinGen ExAC TOPMed gnomAD
CA362978542 rs774632962	692	R>G		No	ClinGen ExAC TOPMed gnomAD
CA3657315 rs138629379	692	R>H		No	ClinGen ESP ExAC TOPMed
CA3657314 rs138629379	692	R>P		No	ClinGen ESP ExAC TOPMed
CA3657313 rs780226124	696	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA136129995 rs1025163473	702	S>G		No	ClinGen TOPMed
CA136129991 rs756193762	702	S>R		No	ClinGen Ensembl
CA3657311 RCV000890533 rs138160539	703	S>N		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3657310 rs745919322	704	T>A		No	ClinGen ExAC TOPMed gnomAD
rs140741790 CA3657309	704	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA362978256 rs1365107137	706	T>I		No	ClinGen gnomAD
rs1291889576 CA362978244	707	L>F		No	ClinGen TOPMed gnomAD
CA136129971 rs201466944	711	V>G		No	ClinGen Ensembl
rs1412989366 CA362978124	711	V>M		No	ClinGen gnomAD
TCGA novel	712	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770007032 CA362977819	718	P>A		No	ClinGen ExAC gnomAD
rs939178161 CA136129203	718	P>H		No	ClinGen gnomAD
CA362977813 rs939178161	718	P>L		No	ClinGen gnomAD
rs770007032 CA3657293	718	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3657292 rs571214674	719	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3657290 rs770907752	721	A>P		No	ClinGen ExAC gnomAD
CA3657291 rs770907752	721	A>T		No	ClinGen ExAC gnomAD
CA136129196 rs865780706	722	R>Q		No	ClinGen TOPMed gnomAD
rs113411083 CA3657289	722	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs777825448 CA3657288	723	A>V		No	ClinGen ExAC gnomAD
rs528319780 CA3657287	724	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs528319780 CA136129192	724	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1450636748 CA362977722	727	H>Y		No	ClinGen gnomAD
rs778587915 CA3657285	730	V>L		No	ClinGen ExAC gnomAD
rs1186085546 CA362977673	731	L>F		No	ClinGen TOPMed gnomAD
rs141223480 CA3657284	731	L>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	735	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs369214546 CA136129183	736	I>V		No	ClinGen Ensembl
rs753429665 CA3657283	737	T>A		No	ClinGen ExAC gnomAD
rs766113419 CA3657282	737	T>I		No	ClinGen ExAC gnomAD
rs267600901 CA362977583	738	L>F		No	ClinGen Ensembl
CA3657281 rs542390700	738	L>M		No	ClinGen 1000Genomes ExAC gnomAD
CA3657280 rs749975311	740	G>D		No	ClinGen ExAC gnomAD
TCGA novel	740	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362977541 rs1271888323	742	R>G		No	ClinGen TOPMed
CA3657279 rs764543817	743	S>P		No	ClinGen ExAC gnomAD
rs763470952 CA3657278	744	T>I		No	ClinGen ExAC TOPMed gnomAD
CA362977517 rs1581960794	744	T>P		No	ClinGen Ensembl
rs775864525 CA3657277	745	D>E		No	ClinGen ExAC gnomAD
rs1432942033 CA362977498	745	D>G		No	ClinGen gnomAD
CA362977507 rs1299966833	745	D>N		No	ClinGen gnomAD
rs375634757 CA3657276	746	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA362977475 rs1400606302	747	Q>P		No	ClinGen gnomAD
CA3657274 rs776700211	750	V>M		No	ClinGen ExAC gnomAD
rs771323736 CA3657273	751	S>P		No	ClinGen ExAC TOPMed gnomAD
rs773451159 COSM450971 CA136129144	752	Y>C	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA3657272 rs747049371	752	Y>H		No	ClinGen ExAC gnomAD
rs773451159 CA3657271	752	Y>S		No	ClinGen ExAC gnomAD
CA362977387 rs1374073980	754	W>S		No	ClinGen TOPMed
CA3657268 rs778976850	755	I>V		No	ClinGen ExAC gnomAD
CA136129119 rs749156433 COSM1193400	756	R>L	lung Variant assessed as Somatic; impact. prostate [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA3657266 rs749156433	756	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3657267 rs754716502	756	R>W		No	ClinGen ExAC gnomAD
TCGA novel	757	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779541360 CA3657265	757	D>N		No	ClinGen ExAC gnomAD
rs1205574314 CA362977345	758	G>R		No	ClinGen gnomAD
TCGA novel	764	G>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362976475 rs1233749713	765	D>Y		No	ClinGen TOPMed
rs754096986 CA3657240	767	I>M		No	ClinGen ExAC TOPMed gnomAD
CA362976416 rs1403049755	768	D>G		No	ClinGen gnomAD
CA362976426 rs1423905880	768	D>N		No	ClinGen gnomAD
TCGA novel	769	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1026181590 CA136128206	770	S>C		No	ClinGen Ensembl
rs1484621600 CA362976345	771	D>E		No	ClinGen gnomAD
rs1159360966 CA362976362	771	D>H		No	ClinGen gnomAD
rs761190759 CA362976329	772	H>L		No	ClinGen ExAC gnomAD
CA3657238 rs761190759	772	H>R		No	ClinGen ExAC gnomAD
CA362976335 rs1473368112	772	H>Y		No	ClinGen gnomAD
rs2744550 VAR_049506 CA3657236	773	S>G		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA362976307 rs1248334237	773	S>I		No	ClinGen gnomAD
CA3657235 VAR_049507 rs2817191	774	V>A		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs199999798 CA3657234	777	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs199999798 CA3657233	777	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs900657478 CA136128186	779	T>M		No	ClinGen TOPMed
CA362976180 rs1331455279	780	N>K		No	ClinGen gnomAD
CA3657231 rs775197103	780	N>S		No	ClinGen ExAC gnomAD
TCGA novel	782	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3657228 rs780797707	782	V>G		No	ClinGen ExAC TOPMed gnomAD
rs745716352 CA362976153	782	V>L		No	ClinGen ExAC TOPMed gnomAD
rs745716352 CA3657229	782	V>M		No	ClinGen ExAC TOPMed gnomAD
COSM740993 rs770651150 CA362976125	783	E>D	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs746459020 COSM740995 CA3657226	784	G>W	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs755377473 CA3657224	785	V>E		No	ClinGen ExAC gnomAD
CA362976097 rs755377473	785	V>G		No	ClinGen ExAC gnomAD
rs777359139 CA3657225	785	V>L		No	ClinGen ExAC TOPMed gnomAD
CA3657223 rs754393926	788	F>L		No	ClinGen ExAC gnomAD
rs756526138 COSM3674625 CA3657221	791	R>*	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA136128151 rs1032784188	791	R>Q		No	ClinGen TOPMed
TCGA novel	792	V>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3657220 rs371137479	792	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA362975959 rs1561941312	793	T>A		No	ClinGen Ensembl
CA362975961 rs1561941312	793	T>P		No	ClinGen Ensembl
rs767807604 CA3657219	794	D>N		No	ClinGen ExAC TOPMed gnomAD
rs767807604 CA362975940	794	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1453709982 CA362975901	796	Q>*		No	ClinGen gnomAD
rs201132279 CA3657218	796	Q>H		No	ClinGen 1000Genomes ExAC
CA362975894 rs1252502318	796	Q>P		No	ClinGen TOPMed gnomAD
CA362975896 rs1252502318	796	Q>R		No	ClinGen TOPMed gnomAD
CA3657217 rs751533886	798	A>V		No	ClinGen ExAC TOPMed gnomAD
CA3657216 COSM1076498 rs764238150	799	S>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	800	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM269435 CA362975825 rs1581945618	800	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
rs775390095 CA3657214	801	T>P		No	ClinGen ExAC gnomAD
CA3657213 rs769768664	802	D>G		No	ClinGen ExAC gnomAD
TCGA novel	802	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1281150119 CA362975753	803	T>A		No	ClinGen gnomAD
rs759292346 CA3657212	803	T>I		No	ClinGen ExAC gnomAD
CA362975695 rs1561940932	806	V>L		No	ClinGen Ensembl
CA362975681 rs1359439280	807	E>*		No	ClinGen gnomAD
CA362975672 rs1437300496	807	E>D		No	ClinGen TOPMed
rs1359439280 CA362975684	807	E>K		No	ClinGen gnomAD
rs1305319540 CA362975561	811	D>G		No	ClinGen gnomAD
CA362975551 rs1291530486	812	P>T		No	ClinGen TOPMed
rs1228572435 CA362975539	813	R>G		No	ClinGen TOPMed gnomAD
rs377161670 CA3657198	813	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA3657197 rs751799824	815	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1413897105 CA362975456	819	E>A		No	ClinGen gnomAD
TCGA novel	819	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764277942 CA3657196	820	L>M		No	ClinGen ExAC TOPMed gnomAD
rs764277942 CA136127892	820	L>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	821	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs372757667 CA3657195	821	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1460389748 CA362975417	823	Q>K		No	ClinGen gnomAD
rs765113436 CA3657194	824	V>I		No	ClinGen ExAC gnomAD
rs765113436 CA3657193	824	V>L		No	ClinGen ExAC gnomAD
CA3657192 rs369798588	825	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1181949451 CA362975373	826	V>A		No	ClinGen gnomAD
CA362975363 rs1424661643	827	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs908493842 CA136127890	828	Q>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA3657191 rs776346119	830	T>R		No	ClinGen ExAC gnomAD
rs766195443 CA3657190	831	E>G		No	ClinGen ExAC TOPMed gnomAD
rs149846843 CA136127885	831	E>K		No	ClinGen ESP
rs1208008313 CA362975290	833	R>Q		No	ClinGen gnomAD
CA3657189 rs760446752	833	R>W		No	ClinGen ExAC TOPMed gnomAD
CA362975282 rs1479927332	834	K>E		No	ClinGen gnomAD
CA362975276 rs1250320335	834	K>R		No	ClinGen gnomAD
rs772900886 CA3657188	835	D>G		No	ClinGen ExAC gnomAD
CA362975248 rs1323178492	836	T>S		No	ClinGen TOPMed gnomAD
rs771662373 CA3657187	837	L>F		No	ClinGen ExAC gnomAD
rs747621869 CA3657186	838	V>G		No	ClinGen ExAC gnomAD
TCGA novel	839	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA136127872 rs1026567080	840	Q>*		No	ClinGen TOPMed
CA3657185 rs372809373	842	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3657182 rs201274998	847	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1231919851 CA362975110	848	L>V		No	ClinGen TOPMed
CA3657181 rs757624577	849	D>H		No	ClinGen ExAC gnomAD
CA3657180 COSM1076495 rs140038163	850	S>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA362975080 rs140038163	850	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs994186582 CA136127854	852	I>V		No	ClinGen TOPMed gnomAD
CA362975018 rs1413214987	855	Q>*		No	ClinGen gnomAD
CA136127852 rs897224740	855	Q>R		No	ClinGen Ensembl
CA362975005 rs1417877681	856	K>E		No	ClinGen TOPMed gnomAD
CA3657178 rs146059101	858	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3657177 rs146059101	858	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA3657179 rs200127424	858	R>W	Variant assessed as Somatic; 0.0004184 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA136127843 rs1009783487	859	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1489141487 CA362974964	859	A>V		No	ClinGen gnomAD
CA3657176 rs765309527	860	H>L		No	ClinGen ExAC TOPMed gnomAD
CA3657175 rs755119720	860	H>Q		No	ClinGen ExAC gnomAD
rs765309527 CA362974956	860	H>R		No	ClinGen ExAC TOPMed gnomAD
CA3657174 rs144337049	861	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs760488891 CA3657172	863	L>V		No	ClinGen ExAC gnomAD
CA362974908 rs1459984432	864	S>G		No	ClinGen TOPMed
CA362973766 rs1446037383	866	V>M		No	ClinGen TOPMed gnomAD
CA362973760 rs1426028507	867	I>L		No	ClinGen TOPMed gnomAD
rs1256660021 CA362973756	867	I>T		No	ClinGen gnomAD
rs1484669399 CA362973751	868	V>L		No	ClinGen gnomAD
rs774889730 CA3657148	870	Y>F		No	ClinGen ExAC gnomAD
rs1271996180 CA362973700	871	V>I		No	ClinGen gnomAD
rs1271996180 CA362973697	871	V>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	871	V>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3657146 rs529493151	872	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
CA362973681 rs1225568600	872	Q>R		No	ClinGen gnomAD
CA136123926 rs139576937 CA362973650	873	S>R		No	ClinGen ESP ExAC gnomAD
CA136123924 rs997214312	874	R>S		No	ClinGen TOPMed gnomAD
CA3657144 rs563610884	875	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA362973614 rs1416962118	875	P>T		No	ClinGen gnomAD
CA136123921 rs879056950	878	K>T		No	ClinGen Ensembl
rs1421078652 CA362973513	879	V>L		No	ClinGen gnomAD
CA362973494 rs1295346788	880	L>V		No	ClinGen TOPMed
rs1165632560 CA362973470	881	K>N		No	ClinGen gnomAD
rs1474891363 CA362973423 COSM1496239	883	A>V	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA362973387 rs1189805258	885	V>M		No	ClinGen gnomAD
rs754440682 CA3657139	887	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs150777675 CA3657138 COSM1211885	887	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA362973330 rs1439457460	888	N>S		No	ClinGen gnomAD
rs1323007648 CA362973295	890	H>Y		No	ClinGen TOPMed
rs376432918 CA3657136	891	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1270031254 CA362973264	891	M>T		No	ClinGen TOPMed
CA362973271 rs1209423028	891	M>V		No	ClinGen TOPMed
rs141240086 CA3657134	892	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs557734049 CA3657135	892	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA3657133 rs763795700	897	K>Q		No	ClinGen ExAC gnomAD
CA362973115 rs1293033535	898	A>S		No	ClinGen gnomAD
CA362973114 rs1411030205	898	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3657131 rs752187686	900	F>L		No	ClinGen ExAC gnomAD
rs981831862 CA136123914	900	F>S		No	ClinGen Ensembl
rs370433424 CA136123911 COSM1487504	901	L>F	breast [Cosmic]	No	ClinGen cosmic curated ESP gnomAD
TCGA novel	902	L>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1472668066 CA362972383	904	K>Q		No	ClinGen TOPMed
CA362972371 rs1391020985	904	K>R		No	ClinGen gnomAD
rs1160745367 CA362972354	905	V>L		No	ClinGen TOPMed
rs764651788 CA3657130	908	V>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1342884080 CA362972282	909	D>G		No	ClinGen TOPMed
rs759147860 CA3657129	911	A>G		No	ClinGen ExAC gnomAD
rs562002799 CA136123908	911	A>T		No	ClinGen 1000Genomes gnomAD
rs752280978 CA3657114	912	G>A		No	ClinGen ExAC gnomAD
CA3657128 rs773691612	912	G>R		No	ClinGen ExAC TOPMed gnomAD
CA362972245 rs773691612	912	G>S		No	ClinGen ExAC TOPMed gnomAD
COSM183769 rs1467337732 CA362971128	913	C>Y	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
TCGA novel	914	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3657113 rs764993564	914	L>P		No	ClinGen ExAC gnomAD
rs1041180496 CA136123485	915	L>V		No	ClinGen Ensembl
rs754418155 CA3657112	918	S>F		No	ClinGen ExAC gnomAD
VAR_034032 CA3657111 rs10946705 RCV000879084	919	G>A		No	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs144175049 CA3657110	920	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA136123480 rs950965146	921	G>D		No	ClinGen TOPMed
rs538198671 CA3657107	923	C>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3657108 rs774633095	923	C>R		No	ClinGen ExAC gnomAD
CA3657104 rs770094776	924	D>G		No	ClinGen ExAC
rs199538325 CA362970973	924	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs199538325 CA3657105	924	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA362970959 rs1432437087	925	P>L		No	ClinGen gnomAD
rs1289025237 CA362970966	925	P>T		No	ClinGen gnomAD
CA362970953 rs1343280609	926	L>F		No	ClinGen gnomAD
rs370096303 CA3657102	927	T>I		No	ClinGen ESP ExAC gnomAD
CA362970916 rs1175606461	928	K>T		No	ClinGen gnomAD
CA3657101 COSM245212 rs770931600	929	R>C	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs757792302 CA3657100	929	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1581904620 CA362970841	933	S>C		No	ClinGen Ensembl
rs1162837766 CA362970836	934	H>N		No	ClinGen TOPMed gnomAD
rs777917501 CA3657099	934	H>R		No	ClinGen ExAC
rs1240767169 CA362970790	936	W>C		No	ClinGen gnomAD
rs143728849 CA136123466	937	M>V		No	ClinGen ESP
CA3657097 rs758110457	939	N>K		No	ClinGen ExAC gnomAD
rs1337180342 CA362970742	939	N>S		No	ClinGen TOPMed
CA3657096 rs748018832	941	I>T		No	ClinGen ExAC TOPMed gnomAD
rs567670732 CA3657094 COSM183767	943	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA3657092 rs137950263 COSM2148928	943	R>H	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA3657093 rs137950263	943	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA362970702 rs1365470886	944	Y>C		No	ClinGen TOPMed gnomAD
CA3657091 rs755687148	945	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	946	W>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362970683 rs1255547813	947	D>N		No	ClinGen TOPMed
rs554358650 CA3657090	948	G>A		No	ClinGen 1000Genomes ExAC gnomAD
CA136123452 rs890422477	948	G>R		No	ClinGen TOPMed gnomAD
CA3657089 rs377219427	950	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA3657076 rs529548247	953	E>A		No	ClinGen ExAC TOPMed gnomAD
CA3657075 rs369134381	956	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146921103 CA3657074	958	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1186201372 CA362970476	960	T>A		No	ClinGen gnomAD
rs749975377 CA3657073	960	T>I		No	ClinGen ExAC TOPMed gnomAD
CA362970470 rs1300935270	961	V>M		No	ClinGen TOPMed
CA362970454 rs1251793177	963	A>V		No	ClinGen gnomAD
rs1178448667 CA362970440	965	T>I		No	ClinGen TOPMed gnomAD
CA3657071 rs758963733	967	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3657072 rs778101293	967	I>V		No	ClinGen ExAC
CA3657070 rs752943073	970	T>I		No	ClinGen ExAC gnomAD
rs1336467605 CA362970399	973	F>L		No	ClinGen gnomAD
rs1271060415 CA362970389	974	T>I		No	ClinGen gnomAD
rs1232409241 CA362970384	975	W>G		No	ClinGen gnomAD
CA3657068 rs760041574	977	C>S		No	ClinGen ExAC TOPMed gnomAD
CA362970367 rs760041574	977	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA362970360 rs1371359063	978	I>T		No	ClinGen gnomAD
rs766751969 CA3657066	979	C>G		No	ClinGen ExAC TOPMed gnomAD
CA362970338 rs1441977279	981	C>F		No	ClinGen TOPMed gnomAD
CA362970337 rs1441977279	981	C>Y		No	ClinGen TOPMed gnomAD
rs773364437 CA3657064	982	K>E		No	ClinGen ExAC
rs1203105385 CA362969957	984	Q>*		No	ClinGen gnomAD
CA362969959 rs1203105385	984	Q>K		No	ClinGen gnomAD
CA362969955 rs1465275385	984	Q>R		No	ClinGen TOPMed
rs753910096 CA136122264	986	R>M		No	ClinGen Ensembl
CA136122260 rs984975236	987	T>N		No	ClinGen Ensembl
rs868593953 CA136122258	988	K>Q		No	ClinGen Ensembl
rs755557530 CA3657046	988	K>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	992	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	993	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1581874685 CA362969881	995	Y>D		No	ClinGen Ensembl
CA136122236 rs993765622	997	I>V		No	ClinGen gnomAD
CA362969834 rs1380818914	1001	M>I		No	ClinGen gnomAD
rs1298226149 CA362969838	1001	M>T		No	ClinGen gnomAD
rs764057053 CA3657043	1002	D>H		No	ClinGen ExAC gnomAD
CA362969815 rs1581874462	1004	Q>*		No	ClinGen Ensembl
TCGA novel	1004	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362969812 rs1176355442	1004	Q>L		No	ClinGen TOPMed
CA3657042 rs377548888	1005	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1005	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775285717 CA3657041	1006	R>G		No	ClinGen ExAC gnomAD
rs1467932870 CA362969799	1006	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs866430826 CA136122221	1008	E>K		No	ClinGen Ensembl
rs1561908392 CA362969778	1009	L>P		No	ClinGen Ensembl
rs745535230 CA3657039	1009	L>V		No	ClinGen ExAC gnomAD
CA362969771 rs1436453372	1010	R>S		No	ClinGen TOPMed
rs186070494 CA3657038	1011	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs807534 VAR_049508 CA3657037	1013	Y>C		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs555334494 CA136120135	1015	I>S		No	ClinGen 1000Genomes gnomAD
rs555334494 CA136120138	1015	I>T		No	ClinGen 1000Genomes gnomAD
CA3657014 rs372602681	1016	K>R		No	ClinGen ESP ExAC gnomAD
CA362969342 rs746255929	1017	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs781434453 CA136120114	1018	R>*		No	ClinGen ExAC TOPMed gnomAD
CA3657012 rs781434453	1018	R>G		No	ClinGen ExAC TOPMed gnomAD
CA3657011 rs757441676	1018	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1394717910 CA362969277	1022	H>R		No	ClinGen TOPMed gnomAD
rs1581851387 CA362969251	1024	S>P		No	ClinGen Ensembl
CA3657010 rs369585660	1025	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA362969226 rs1459623603	1025	S>R		No	ClinGen gnomAD
rs369585660 CA362969232	1025	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs755660458 CA136120092	1026	L>P		No	ClinGen TOPMed gnomAD
rs535150129 CA3657009	1027	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1426900106 CA362969199	1028	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA362969175 rs1378494024	1029	S>F		No	ClinGen TOPMed
rs567594992 CA136120086	1029	S>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs567594992 CA3657008	1029	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1176799138 CA362969162	1030	E>D		No	ClinGen TOPMed gnomAD
rs752615001 COSM1696966 CA3657007	1030	E>K	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA362969119 rs1374738684	1033	F>L		No	ClinGen TOPMed
CA362969109 rs1282269823	1034	D>G		No	ClinGen gnomAD
rs765134085 CA3657006	1035	S>N		No	ClinGen ExAC gnomAD
CA362969074 rs1227494138	1036	D>E		No	ClinGen gnomAD
CA362969067 rs1253786963	1037	Q>*		No	ClinGen gnomAD
rs1420256552 CA362969063	1037	Q>R		No	ClinGen TOPMed
CA362969034 rs1327726384	1039	T>K		No	ClinGen gnomAD
rs759338330 CA3657005	1042	S>N		No	ClinGen ExAC gnomAD
CA362968982 rs1320369116	1043	R>*		No	ClinGen gnomAD
CA3657004 rs753600089	1043	R>Q		No	ClinGen ExAC gnomAD
rs1224879115 CA362968968	1044	E>G		No	ClinGen gnomAD
CA362968961 rs1353409946	1045	K>E		No	ClinGen gnomAD
TCGA novel	1045	K>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362968948 rs1306495192	1046	M>I		No	ClinGen gnomAD
rs766002523 CA3657003	1047	E>Q		No	ClinGen ExAC gnomAD
rs201365492 CA362968931 COSM483736	1049	G>R	kidney [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA3657002 rs201365492	1049	G>W		No	ClinGen ExAC gnomAD
rs1349130030 CA362968904	1053	V>I		No	ClinGen TOPMed gnomAD
rs1318696543 CA362968892	1055	M>V		No	ClinGen TOPMed gnomAD
rs1218002268 CA362968869	1058	S>T		No	ClinGen TOPMed
rs541993554 CA136120046	1059	I>F		No	ClinGen Ensembl
TCGA novel	1060	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200733699 CA3657000	1061	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs761460863 CA3656999	1064	S>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1066	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3656997 rs770233380	1068	C>G		No	ClinGen ExAC TOPMed gnomAD
CA362968802 rs770233380	1068	C>R		No	ClinGen ExAC TOPMed gnomAD
rs200729626 CA136120014	1069	S>*		No	ClinGen Ensembl
CA362968793 rs1338407660	1069	S>P		No	ClinGen TOPMed gnomAD
TCGA novel	1072	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3656996 rs746193566	1073	R>K		No	ClinGen ExAC gnomAD

1 associated diseases with Q5VV43

[MIM: 600202]: Dyslexia 2 (DYX2)

A relatively common, complex cognitive disorder characterized by an impairment of reading performance despite adequate motivational, educational and intellectual opportunities. It is a multifactorial trait, with evidence for familial clustering and heritability. {ECO:0000269|PubMed:16600991}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

Without disease ID

A relatively common, complex cognitive disorder characterized by an impairment of reading performance despite adequate motivational, educational and intellectual opportunities. It is a multifactorial trait, with evidence for familial clustering and heritability. {ECO:0000269|PubMed:16600991}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

13 regional properties for Q5VV43

Type	Name	Position	InterPro Accession
domain	PKD domain	545 - 618	IPR000601
domain	PKD/REJ-like domain	489 - 666	IPR002859
domain	Fibronectin type III	305 - 418	IPR003961-1
domain	Fibronectin type III	434 - 512	IPR003961-2
domain	Fibronectin type III	593 - 702	IPR003961-3
domain	Fibronectin type III	719 - 799	IPR003961-4
domain	Seven cysteines, N-terminal	20 - 102	IPR011106
domain	MANSC domain	13 - 99	IPR013980
domain	PKD/Chitinase domain	341 - 427	IPR022409-1
domain	PKD/Chitinase domain	435 - 524	IPR022409-2
domain	PKD/Chitinase domain	530 - 620	IPR022409-3
domain	PKD/Chitinase domain	621 - 714	IPR022409-4
domain	PKD/Chitinase domain	720 - 811	IPR022409-5

Functions

		Description
EC Number
Subcellular Localization	Cell membrane ; Single-pass type I membrane protein Early endosome membrane ; Single-pass type I membrane protein	Low-abundance isoforms lacking the transmembrane domain have been described; these are secreted
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

8 GO annotations of cellular component

Name	Definition
clathrin-coated endocytic vesicle membrane	The lipid bilayer surrounding a clathrin-coated endocytic vesicle.
cytoplasmic vesicle	A vesicle found in the cytoplasm of a cell.
early endosome	A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways.
early endosome membrane	The lipid bilayer surrounding an early endosome.
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

7 GO annotations of biological process

Name	Definition
multicellular organismal response to stress	Any process that results in a change in state or activity of a multicellular organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating the organism is under stress. The stress is usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation).
negative regulation of axon extension	Any process that stops, prevents, or reduces the frequency, rate or extent of axon outgrowth.
negative regulation of axon extension involved in regeneration	Any process that stops, prevents, or reduces the frequency, rate or extent of axon extension involved in regeneration.
negative regulation of dendrite development	Any process that stops, prevents, or reduces the frequency, rate or extent of dendrite development.
neuron migration	The characteristic movement of an immature neuron from germinal zones to specific positions where they will reside as they mature.
positive regulation of SMAD protein signal transduction	Any process that increases the rate, frequency or extent of SMAD protein signal transduction. Pathway-restricted SMAD proteins and common-partner SMAD proteins are involved in the transforming growth factor beta receptor signaling pathways.
response to auditory stimulus	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an auditory stimulus.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8IZA0	KIAA0319L	Dyslexia-associated protein KIAA0319-like protein	Homo sapiens (Human)	PR

10	20	30	40	50	60
MAPPTGVLSS	LLLLVTIAGC	ARKQCSEGRT	YSNAVISPNL	ETTRIMRVSH	TFPVVDCTAA
70	80	90	100	110	120
CCDLSSCDLA	WWFEGRCYLV	SCPHKENCEP	KKMGPIRSYL	TFVLRPVQRP	AQLLDYGDMM
130	140	150	160	170	180
LNRGSPSGIW	GDSPEDIRKD	LTFLGKDWGL	EEMSEYSDDY	RELEKDLLQP	SGKQEPRGSA
190	200	210	220	230	240
EYTDWGLLPG	SEGAFNSSVG	DSPAVPAETQ	QDPELHYLNE	SASTPAPKLP	ERSVLLPLPT
250	260	270	280	290	300
TPSSGEVLEK	EKASQLQEQS	SNSSGKEVLM	PSHSLPPASL	ELSSVTVEKS	PVLTVTPGST
310	320	330	340	350	360
EHSIPTPPTS	AAPSESTPSE	LPISPTTAPR	TVKELTVSAG	DNLIITLPDN	EVELKAFVAP
370	380	390	400	410	420
APPVETTYNY	EWNLISHPTD	YQGEIKQGHK	QTLNLSQLSV	GLYVFKVTVS	SENAFGEGFV
430	440	450	460	470	480
NVTVKPARRV	NLPPVAVVSP	QLQELTLPLT	SALIDGSQST	DDTEIVSYHW	EEINGPFIEE
490	500	510	520	530	540
KTSVDSPVLR	LSNLDPGNYS	FRLTVTDSDG	ATNSTTAALI	VNNAVDYPPV	ANAGPNHTIT
550	560	570	580	590	600
LPQNSITLNG	NQSSDDHQIV	LYEWSLGPGS	EGKHVVMQGV	QTPYLHLSAM	QEGDYTFQLK
610	620	630	640	650	660
VTDSSRQQST	AVVTVIVQPE	NNRPPVAVAG	PDKELIFPVE	SATLDGSSSS	DDHGIVFYHW
670	680	690	700	710	720
EHVRGPSAVE	MENIDKAIAT	VTGLQVGTYH	FRLTVKDQQG	LSSTSTLTVA	VKKENNSPPR
730	740	750	760	770	780
ARAGGRHVLV	LPNNSITLDG	SRSTDDQRIV	SYLWIRDGQS	PAAGDVIDGS	DHSVALQLTN
790	800	810	820	830	840
LVEGVYTFHL	RVTDSQGASD	TDTATVEVQP	DPRKSGLVEL	TLQVGVGQLT	EQRKDTLVRQ
850	860	870	880	890	900
LAVLLNVLDS	DIKVQKIRAH	SDLSTVIVFY	VQSRPPFKVL	KAAEVARNLH	MRLSKEKADF
910	920	930	940	950	960
LLFKVLRVDT	AGCLLKCSGH	GHCDPLTKRC	ICSHLWMENL	IQRYIWDGES	NCEWSIFYVT
970	980	990	1000	1010	1020
VLAFTLIVLT	GGFTWLCICC	CKRQKRTKIR	KKTKYTILDN	MDEQERMELR	PKYGIKHRST
1030	1040	1050	1060	1070
EHNSSLMVSE	SEFDSDQDTI	FSREKMERGN	PKVSMNGSIR	NGASFSYCSK	DR