AiPD: Autoinhibited Protein Database

Q9H0B6

Gene name	KLC2
Protein name	Kinesin light chain 2
Names	KLC 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:64837
EC number
Protein Class

Descriptions

The Kinesin-1 light chains (KLCs) exhibit autoinhibition through an intramolecular interaction between the TPR domain and a highly conserved peptide motif within an unstructured region, occluding a key cargo binding site. Cargo binding displaces this interaction, leading to a global conformational change in the KLCs, resulting in a more extended conformation which is essential for the regulation of the motor activity.

Autoinhibitory domains (AIDs)

139-196 (the flexible linker region) SS

Target domain	197-482 (Cargo binding site on the TPR domain)
Relief mechanism	Partner binding
Assay

AID

139-196 (the flexible linker region)

Target domain

197-482 (Cargo binding site on the TPR domain)

Relief mechanism

Partner binding (W-acidic cargo binding)

Assay

Accessory elements

No accessory elements

References

Yip YY et al. (2016) "The light chains of kinesin-1 are autoinhibited", Proceedings of the National Academy of Sciences of the United States of America, 113, 2418-23

Autoinhibited structure

Activated structure

3 structures for Q9H0B6

Entry ID	Method	Resolution	Chain	Position	Source
3CEQ	X-ray	275 A	A/B	217-480	PDB
3EDT	X-ray	270 A	B/D/F/H	217-480	PDB
AF-Q9H0B6-F1	Predicted				AlphaFoldDB

632 variants for Q9H0B6

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV002004905 RCV002564362 rs1438263505	233	G>V	Inborn genetic diseases [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
rs776301774 RCV002551128 RCV001864611	418	R>Q	Inborn genetic diseases [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV002546361 rs749350069 RCV001329922	509	R>Q	SPOAN syndrome Inborn genetic diseases [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001910405 rs200774812 RCV002557817	511	M>T	Inborn genetic diseases [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1300899787	3	M>K		No	gnomAD
rs1300899787	3	M>T		No	gnomAD
rs770783647	4	M>I		No	ExAC gnomAD
rs746725901	4	M>L		No	ExAC TOPMed gnomAD
rs1856174965	4	M>T		No	gnomAD
TCGA novel	4	M>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2134792947	6	F>I		No	Ensembl
rs2134792947	6	F>L		No	Ensembl
rs1276207428	7	P>L		No	TOPMed gnomAD
rs1856175454	8	R>W		No	TOPMed
rs1590855556	10	E>K		No	Ensembl
rs1180627372	12	L>M		No	TOPMed gnomAD
rs745506763	13	S>N		No	ExAC gnomAD
rs1192166916	14	Q>E		No	gnomAD
rs1856176864	14	Q>P		No	gnomAD
rs1220047389	15	D>Y		No	gnomAD
rs775129452	17	I>M		No	ExAC TOPMed gnomAD
rs1856177622	18	V>M		No	TOPMed
rs1170680713	19	L>R		No	gnomAD
rs1856177947	20	G>S		No	Ensembl
rs897355327	21	T>I		No	TOPMed
rs1258656605	23	A>V		No	TOPMed gnomAD
rs764636272	26	Q>K		No	ExAC gnomAD
rs201173445	26	Q>R		No	1000Genomes ExAC TOPMed gnomAD
rs1856179717	27	G>E		No	TOPMed
rs1212802220	27	G>R		No	gnomAD
rs1280605910	30	T>I		No	gnomAD
COSM1356141 rs1231406020	31	L>A	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA
TCGA novel	32	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1856180955	32	R>H		No	Ensembl
TCGA novel	32	R>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1856181153	33	G>V		No	TOPMed
rs566333033	36	R>C		No	1000Genomes ExAC gnomAD
rs986909467	36	R>H		No	Ensembl
rs566333033	36	R>S		No	1000Genomes ExAC gnomAD
rs376434021	38	L>V		No	ESP
rs1856182186	41	P>S		No	gnomAD
rs535440442	42	L>Q		No	1000Genomes ExAC gnomAD
rs1590855827	43	V>G		No	Ensembl
rs1289903959	43	V>I		No	gnomAD
rs1324056536	45	P>S		No	TOPMed gnomAD
rs753845837	46	E>K		No	ExAC TOPMed gnomAD
rs753845837	46	E>Q		No	ExAC TOPMed gnomAD
rs1590855873	47	A>G		No	Ensembl
rs777523924	48	G>S		No	ExAC gnomAD
COSM4827528	49	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1590855903	49	E>G		No	Ensembl
COSM162008 rs1240569511	49	E>K	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs781023952	51	E>D		No	ExAC TOPMed gnomAD
rs757182897	51	E>K		No	ExAC TOPMed gnomAD
rs745719631	52	P>A		No	ExAC gnomAD
rs1856186059	53	G>R		No	gnomAD
rs1856186210	54	S>L		No	TOPMed
COSM4035647	55	Q>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1590855944	55	Q>P		No	Ensembl
rs1590855968	56	E>G		No	Ensembl
rs769569936	56	E>K		No	ExAC TOPMed gnomAD
rs769569936	56	E>Q		No	ExAC TOPMed gnomAD
rs1163343380	57	R>C		No	Ensembl
rs1590855985	58	C>R		No	Ensembl
rs1467620223	60	L>I		No	TOPMed gnomAD
rs1319963709	62	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs748756163	62	R>H		No	ExAC TOPMed gnomAD
rs1319963709	62	R>S		No	gnomAD
rs1856188975	63	R>H		No	TOPMed
rs1856188975	63	R>P		No	TOPMed
rs1856189286	66	E>K		No	TOPMed gnomAD
rs1284314808	68	I>T		No	gnomAD
rs1590856019	68	I>V		No	Ensembl
COSM4035648	71	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM429639	74	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1856190049	74	E>Q		No	Ensembl
rs1856190206	75	A>V		No	TOPMed
COSM3687537	76	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1172865676	77	V>G		No	gnomAD
rs1469422478	77	V>M		No	gnomAD
rs1856440676	78	I>V		No	TOPMed
rs1432413652	79	L>F		No	gnomAD
rs1856441036	79	L>V		No	Ensembl
rs952207373	80	A>V		No	Ensembl
rs1856441591	81	L>S		No	TOPMed
rs1370591011	82	S>L		No	gnomAD
rs1393686599	83	S>N		No	gnomAD
rs1327412946	84	H>P		No	gnomAD
rs760980788	85	L>P		No	ExAC TOPMed gnomAD
rs1335612173	85	L>V		No	gnomAD
rs777021089	88	V>A		No	ExAC gnomAD
rs556261444	88	V>I		No	1000Genomes ExAC TOPMed gnomAD
rs556261444	88	V>L		No	1000Genomes ExAC TOPMed gnomAD
rs1233794730	89	E>D		No	TOPMed gnomAD
rs1856444541	91	E>K		No	Ensembl
rs752821205	92	K>R		No	ExAC gnomAD
rs2134812514	93	Q>R		No	Ensembl
TCGA novel	94	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
RCV002009986 rs1194039330	96	R>Q		No	ClinVar TOPMed dbSNP gnomAD
rs762950071	96	R>W		No	ExAC gnomAD
rs140962519	97	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1856447067	98	Q>*		No	TOPMed
rs779968196	98	Q>H		No	ExAC gnomAD
rs1590862768	99	V>G		No	Ensembl
rs1165585706	99	V>M		No	TOPMed gnomAD
rs753740357	100	R>Q		No	ExAC gnomAD
rs1018827140	100	R>W		No	TOPMed gnomAD
rs754653964	101	R>C		No	ExAC TOPMed gnomAD
rs1856448935	101	R>H		No	Ensembl
rs2134812760	102	L>V		No	Ensembl
rs1590862831	103	V>G		No	Ensembl
rs933874809	104	Q>L		No	TOPMed gnomAD
rs778434471	106	N>T		No	ExAC gnomAD
rs1462677508	107	Q>K		No	TOPMed gnomAD
rs1856450256	108	W>G		No	gnomAD
rs747634463	110	R>G		No	ExAC
COSM930681 rs11554294	110	R>H	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs11554294	110	R>L		No	ExAC TOPMed gnomAD
rs147917885	111	E>D		No	ESP ExAC TOPMed gnomAD
COSM1356144	111	E>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs564891235	112	E>D		No	1000Genomes ExAC gnomAD
rs1590862923	112	E>G		No	Ensembl
rs1590862936	113	L>P		No	Ensembl
rs373637724 COSM1127679	114	A>V	prostate [Cosmic]	No	cosmic curated ESP ExAC TOPMed gnomAD
rs769994731	116	T>I		No	ExAC gnomAD
rs775591437	117	Q>R		No	ExAC TOPMed gnomAD
rs1215396703	121	Q>R		No	TOPMed gnomAD
rs1261999358	122	R>C		No	TOPMed gnomAD
rs571985017 COSM4035649	122	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs368709295	123	S>G		No	ESP ExAC TOPMed gnomAD
rs1590863043	123	S>N		No	Ensembl
rs1462468053	123	S>R		No	gnomAD
rs1341533219	124	E>K		No	TOPMed
COSM4828794	124	E>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs140215886	125	Q>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs753620706	127	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
COSM1739818 rs1856456716	128	A>T	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated Ensembl
rs1856456926	128	A>V		No	Ensembl
rs1350064237	131	E>G		No	TOPMed gnomAD
rs770140415	131	E>K		No	Ensembl
rs150052320	135	Q>E		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1420991967	138	L>V		No	TOPMed
TCGA novel	139	F>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1332506713	140	M>I		No	gnomAD
rs145211775	140	M>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs145211775	140	M>V		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1212852703	141	S>R		No	gnomAD
rs758112769	144	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs549150930	144	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs374310320 RCV002010214	145	K>R		No	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1056069555	147	D>N		No	Ensembl
rs1047438553	148	E>K		No	TOPMed
rs886194580	149	D>H		No	Ensembl
rs886194580	149	D>N		No	Ensembl
rs781669694	150	A>T		No	ExAC TOPMed gnomAD
COSM930683	150	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM930684	151	S>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs770080117	153	N>K		No	ExAC TOPMed gnomAD
rs1348177416	154	E>A		No	gnomAD
rs2134815237	157	G>R		No	Ensembl
rs990041669	158	D>G		No	Ensembl
TCGA novel	158	D>T	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1277621577	158	D>Y		No	TOPMed gnomAD
COSM3451998 rs773382725	159	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs773382725	159	V>L		No	ExAC TOPMed gnomAD
rs759371515	160	P>L		No	ExAC gnomAD
rs1239475980	161	K>R		No	gnomAD
rs1351879925	163	T>P		No	gnomAD
rs775144918	164	L>P		No	ExAC gnomAD
rs762744349	165	D>G		No	ExAC TOPMed gnomAD
rs1856481707	166	D>E		No	gnomAD
rs751238282	166	D>V		No	ExAC TOPMed gnomAD
rs369870611	168	F>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs766911517	169	P>L		No	ExAC gnomAD
rs61729298	170	N>S		No	ESP ExAC TOPMed gnomAD
COSM1356145	171	E>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs143312355	171	E>K		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1473466336	172	D>E		No	Ensembl
rs937018044	173	E>K		No	gnomAD
rs146812832	175	S>R		No	ESP ExAC TOPMed gnomAD
rs754092980	175	S>T		No	ExAC TOPMed
rs1056037882 COSM6134219 COSM1509663	177	A>T	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated NCI-TCGA Cosmic NCI-TCGA gnomAD
rs1856529052	178	P>L		No	Ensembl
rs753171824	178	P>S		No	ExAC gnomAD
rs758544496	180	P>T		No	ExAC TOPMed gnomAD
rs778061102	181	G>R		No	ExAC gnomAD
rs779817860	185	V>A		No	ExAC gnomAD
rs757384779	185	V>M		No	ExAC gnomAD
rs749195680	187	G>V		No	ExAC gnomAD
rs768634192	188	Q>*		No	ExAC TOPMed gnomAD
rs1398850565	189	H>Y		No	gnomAD
COSM3451999 rs140572929	190	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD NCI-TCGA Cosmic NCI-TCGA
rs140572929	190	G>W		No	ESP ExAC TOPMed gnomAD
rs1284019733	191	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs760062249	193	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
COSM3452000	195	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1856533331	196	A>T		No	Ensembl
rs1488049069	196	A>V		No	gnomAD
rs1002722175	197	R>Q		No	TOPMed
rs1391860839	197	R>W		No	TOPMed gnomAD
rs760107148	199	R>C		No	ExAC TOPMed gnomAD
rs765912653	199	R>H		No	ExAC TOPMed gnomAD
rs765912653	199	R>L		No	ExAC TOPMed gnomAD
rs1367736453	200	T>N		No	gnomAD
rs1590865884	200	T>P		No	Ensembl
rs1856535727	201	L>P		No	Ensembl
rs1035428277	203	N>K		No	Ensembl
rs764175725	207	Q>R		No	ExAC gnomAD
COSM194357 rs1312987213	209	A>T	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	cosmic curated NCI-TCGA TOPMed gnomAD
rs1856537332	209	A>V		No	Ensembl
rs1856538169	211	Q>H		No	TOPMed
rs1856537762	211	Q>K		No	TOPMed
rs1856537949	211	Q>R		No	TOPMed gnomAD
rs958410481	212	G>D		No	Ensembl
rs781231869	213	R>C		No	ExAC TOPMed gnomAD
COSM325639 rs1336794682	215	E>K	lung [Cosmic]	No	cosmic curated TOPMed gnomAD
rs1315757292 RCV002050896	216	V>I		No	ClinVar TOPMed dbSNP
rs375699952	218	V>A		No	ESP TOPMed
COSM689925 rs1294097402	224	A>V	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs1856540990	225	L>F		No	Ensembl
rs771930616	226	E>K		No	ExAC TOPMed gnomAD
rs1334322740	227	D>E		No	gnomAD
rs1442642267	228	L>M		No	TOPMed
COSM4930677	229	E>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1391957601	230	K>E		No	TOPMed
rs376918462 RCV001874493	231	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs770369160	235	D>E		No	ExAC TOPMed gnomAD
rs759124240	235	D>G		No	ExAC gnomAD
rs371886248	235	D>N		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1396425101	237	P>R		No	gnomAD
COSM930685	239	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs763189913	239	V>I		No	ExAC TOPMed gnomAD
rs1565171994	241	T>A		No	Ensembl
rs2134820174 RCV002051364	241	T>S		No	ClinVar Ensembl dbSNP
rs1397854714	245	I>V		No	gnomAD
rs751921291	246	L>M		No	ExAC TOPMed gnomAD
rs751921291	246	L>V		No	ExAC TOPMed gnomAD
rs1856548508	247	A>T		No	Ensembl
rs1856549255	250	Y>C		No	Ensembl
COSM415808 COSM3452001	251	R>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	251	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs767727284	251	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs1856596345	252	D>G		No	Ensembl
rs561254674	252	D>H		No	1000Genomes ExAC gnomAD
rs561254674	252	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA gnomAD
TCGA novel	253	Q>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs758352230	254	N>K		No	ExAC gnomAD
rs1416097912	255	K>M		No	gnomAD
TCGA novel	257	K>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs777576861	257	K>N		No	ExAC gnomAD
rs1856597342	257	K>R		No	gnomAD
rs1342861199	258	E>A		No	TOPMed gnomAD
rs1342861199	258	E>V		No	TOPMed gnomAD
COSM930686	259	A>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1250494357	259	A>S		No	TOPMed gnomAD
rs1250494357	259	A>T		No	TOPMed gnomAD
rs1856598501	259	A>V		No	TOPMed gnomAD
rs751312588	261	H>R		No	ExAC gnomAD
rs371335023	264	N>S		No	ESP ExAC TOPMed gnomAD
rs1856599436	265	D>V		No	gnomAD
rs199934511	268	A>T		No	ESP ExAC TOPMed gnomAD
TCGA novel	268	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs745487189	270	R>Q		No	ExAC TOPMed gnomAD
rs1302275544	270	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs761776278	271	E>K		No	ExAC TOPMed gnomAD
rs761776278	271	E>Q		No	ExAC TOPMed gnomAD
rs1856600577	272	K>N		No	Ensembl
rs1856600408	272	K>R		No	TOPMed
rs1294946284	273	T>I		No	gnomAD
rs915837358	274	L>M		No	TOPMed
rs1590868070	274	L>R		No	Ensembl
rs915837358	274	L>V		No	TOPMed
rs1243699979	275	G>D		No	gnomAD
rs769145389	277	D>A		No	ExAC gnomAD
rs369791984	277	D>N		No	ESP TOPMed gnomAD
rs774740416	278	H>P		No	ExAC gnomAD
rs1421190953	278	H>Q		No	TOPMed
rs1856602475	278	H>Y		No	TOPMed
rs748469044	280	A>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA
rs1057055113	281	V>L		No	TOPMed gnomAD
rs1057055113	281	V>M		No	TOPMed gnomAD
rs765203566	283	A>G		No	ExAC TOPMed gnomAD
rs759622436	283	A>T		No	ExAC gnomAD
rs765203566	283	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs2134825397	284	T>K		No	Ensembl
rs1856612940	286	N>H		No	Ensembl
rs894437623	287	N>D		No	Ensembl
rs1856613240	287	N>S		No	Ensembl
rs755991825	290	V>D		No	ExAC gnomAD
rs750180802	290	V>I		No	ExAC gnomAD
rs199804716	292	Y>H		No	1000Genomes ExAC TOPMed gnomAD
rs1257207923 COSM245308	293	G>D	prostate [Cosmic]	No	cosmic curated TOPMed gnomAD
rs778272740	293	G>S		No	ExAC TOPMed gnomAD
rs747722363	296	G>V		No	ExAC gnomAD
rs758836382	297	K>M		No	ExAC TOPMed gnomAD
rs1485145220	297	K>Q		No	gnomAD
rs758836382	297	K>R		No	ExAC TOPMed gnomAD
rs758836382	297	K>T		No	ExAC TOPMed gnomAD
rs2134825653	298	Y>C		No	Ensembl
TCGA novel	300	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs747325878	301	A>T		No	ExAC gnomAD
rs1432569735	302	E>K		No	TOPMed gnomAD
rs1856616949	303	P>L		No	Ensembl
rs1171038237	304	L>S		No	gnomAD
rs771232762	306	K>R		No	ExAC TOPMed gnomAD
rs771232762	306	K>T		No	ExAC TOPMed gnomAD
rs746057604	307	R>Q		No	ExAC TOPMed gnomAD
rs1425226247	307	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs775710491	309	L>M		No	ExAC TOPMed gnomAD
rs1856619019	310	E>Q		No	Ensembl
rs993632725	311	I>T		No	Ensembl
rs1316532493	312	R>Q		No	gnomAD
rs1026034395	312	R>W		No	TOPMed gnomAD
COSM282272 rs1198438397	313	E>D	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated gnomAD
rs1856620816	314	K>M		No	gnomAD
rs1258035017	317	G>S		No	gnomAD
rs1161175722	318	K>N		No	TOPMed gnomAD
rs1473654370	318	K>R		No	TOPMed gnomAD
rs1400884371	324	A>G		No	gnomAD
rs1400884371	324	A>V		No	gnomAD
rs1159974939	326	Q>*		No	gnomAD
rs1159974939	326	Q>K		No	gnomAD
rs749337161	328	S>R		No	ExAC gnomAD
rs1856634068	331	A>G		No	gnomAD
rs1342712902	331	A>T		No	gnomAD
rs760514266	332	L>P		No	ExAC gnomAD
rs1215892316	338	G>D		No	gnomAD
rs776221313	339	K>R		No	ExAC TOPMed gnomAD
rs759389235	340	A>G		No	ExAC TOPMed gnomAD
rs1406589651	340	A>T		No	TOPMed
rs764821732	342	E>D		No	ExAC TOPMed gnomAD
rs1856636419	342	E>K		No	Ensembl
rs1856636958	343	V>M		No	TOPMed gnomAD
rs1182694668	344	E>K		No	TOPMed gnomAD
rs1236649799	346	Y>*		No	gnomAD
rs2134826844 RCV001966855	347	Y>C		No	ClinVar Ensembl dbSNP
rs752378241 COSM3810125	348	R>Q	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs767400027	348	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1216768870	349	R>Q		No	TOPMed
rs762635793	349	R>W		No	ExAC TOPMed gnomAD
TCGA novel	350	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1565173583	353	I>S		No	Ensembl
rs763574949	356	T>A		No	ExAC TOPMed gnomAD
rs1336707269	356	T>K		No	gnomAD
rs751130289	357	R>C		No	ExAC TOPMed gnomAD
rs1307342908	357	R>H		No	TOPMed gnomAD
rs781726681	359	G>E		No	ExAC gnomAD
COSM266790 rs1276648779	359	G>R	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs781726681	359	G>V		No	ExAC gnomAD
rs780602094	360	P>L		No	ExAC gnomAD
rs756528855	360	P>T		No	ExAC
rs1856643448	361	D>G		No	TOPMed gnomAD
rs372247989	361	D>H		No	ESP ExAC TOPMed gnomAD
rs372247989	361	D>N		No	ESP ExAC TOPMed gnomAD
rs755306783	362	D>N		No	ExAC gnomAD
rs868367442	363	P>H		No	gnomAD
rs868367442 COSM4458504	363	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
rs1193756251	363	P>S		No	gnomAD
TCGA novel	364	N>K	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs978156465 RCV001911964	364	N>S		No	ClinVar TOPMed dbSNP gnomAD
rs759985873	365	V>L		No	ExAC TOPMed gnomAD
TCGA novel	366	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs931266679	366	A>V		No	TOPMed
rs1467516727	368	T>I		No	gnomAD
rs1329659996	369	K>N		No	gnomAD
rs770715787	370	N>D		No	ExAC TOPMed gnomAD
rs1856646953	371	N>D		No	gnomAD
rs776653511	371	N>S		No	ExAC gnomAD
rs1856662212	373	A>V		No	TOPMed
rs1856663055	376	Y>H		No	TOPMed
rs1484297767	378	K>N		No	TOPMed
rs1197363896	378	K>R		No	TOPMed gnomAD
rs199596846	382	Y>D		No	1000Genomes ExAC TOPMed gnomAD
rs199596846	382	Y>H		No	1000Genomes ExAC TOPMed gnomAD
rs532282605 COSM194359	385	A>V	Variant assessed as Somatic; MODERATE impact. pancreas large_intestine endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1856665688	386	E>A		No	Ensembl
TCGA novel	386	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs772652616	390	K>E		No	ExAC gnomAD
rs1856666591	391	E>D		No	TOPMed
RCV000761782 rs1565174024	392	I>T		No	ClinVar Ensembl dbSNP
rs1323827499	393	L>F		No	TOPMed
rs754195861	395	R>C		No	ExAC TOPMed gnomAD
COSM1356146 rs755415117	395	R>H	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs752933551	396	A>T		No	ExAC TOPMed gnomAD
rs1856669302	400	E>A		No	gnomAD
rs751641495	400	E>D		No	ExAC gnomAD
rs1856669302	400	E>G		No	gnomAD
rs1011546869	401	F>L		No	Ensembl
rs1856669793	401	F>V		No	TOPMed
COSM6134218	402	G>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1183992606	403	S>F		No	TOPMed gnomAD
rs1174301312	404	V>I		No	TOPMed
rs756037562	405	N>S		No	ExAC gnomAD
rs991109732	406	G>R		No	TOPMed gnomAD
rs1856714899	407	D>N		No	TOPMed gnomAD
rs1402057236	408	N>K		No	TOPMed gnomAD
rs1856715982	409	K>N		No	Ensembl
rs1856715768	409	K>R		No	gnomAD
rs1056746845	411	I>M		No	TOPMed
TCGA novel	414	H>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs771453461	415	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs561576772	418	R>W		No	1000Genomes ExAC TOPMed gnomAD
rs749629570	423	D>E		No	ExAC gnomAD
rs539418408	423	D>Y		No	1000Genomes ExAC TOPMed gnomAD
rs879133628	424	K>T		No	gnomAD
rs1167051146	425	R>C		No	TOPMed gnomAD
rs1167051146	425	R>G		No	TOPMed gnomAD
rs200554250	425	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA gnomAD
RCV000921058 rs143495132	426	R>Q		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs774715084	426	R>W		No	ExAC TOPMed gnomAD
rs888197974	427	D>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1856729033	428	S>G		No	gnomAD
rs1339013119	429	A>D		No	gnomAD
rs201517210 COSM2167265	429	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs1339013119	429	A>V		No	gnomAD
rs535374067	430	P>R		No	1000Genomes ExAC
rs760718606	431	Y>C		No	ExAC
TCGA novel	431	Y>M	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs764774958	432	G>A		No	ExAC TOPMed gnomAD
rs764774958	432	G>E		No	ExAC TOPMed gnomAD
rs1856730473	432	G>R		No	TOPMed
rs1226798548	433	E>D		No	TOPMed gnomAD
rs1856731227	433	E>K		No	TOPMed
rs1291201624	434	Y>H		No	TOPMed gnomAD
rs1856732286	435	G>D		No	Ensembl
rs375397994	435	G>R		No	ESP ExAC TOPMed gnomAD
rs375397994	435	G>S		No	ESP ExAC TOPMed gnomAD
rs756963769	436	S>G		No	ExAC gnomAD
rs1856732867	436	S>N		No	TOPMed
rs1590872704	438	Y>D		No	Ensembl
rs745358036	439	K>T		No	ExAC gnomAD
rs755615453	440	A>S		No	ExAC
rs374975835	441	C>Y		No	ESP ExAC TOPMed gnomAD
rs1856734544	442	K>N		No	TOPMed
rs1856735010	443	V>A		No	Ensembl
rs749704837	443	V>I		No	ExAC gnomAD
rs1439783560	444	D>A		No	gnomAD
rs769159296	444	D>N		No	ExAC TOPMed gnomAD
rs923711661	445	S>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA
rs1159877454	445	S>C		No	TOPMed gnomAD
rs1467089140	445	S>N		No	gnomAD
rs1159877454	445	S>R		No	TOPMed gnomAD
rs747142604	446	P>A		No	ExAC gnomAD
TCGA novel	447	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2134835948	447	T>P		No	Ensembl
rs888193433	449	N>S		No	TOPMed gnomAD
rs888193433	449	N>T		No	TOPMed gnomAD
rs1590873778	450	T>S		No	Ensembl
rs1856770991	450	T>S		No	Ensembl
rs1428685911	451	T>S		No	Ensembl
rs564226296	453	R>C		No	1000Genomes ExAC TOPMed gnomAD
rs1346972363 COSM3810126	453	R>H	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs768690526	456	G>E		No	ExAC TOPMed gnomAD
rs774467279	457	A>S		No	ExAC gnomAD
rs774467279	457	A>T		No	ExAC gnomAD
rs1198885436	459	Y>*		No	gnomAD
rs1590873862	459	Y>S		No	Ensembl
rs1565175476	460	R>L		No	Ensembl
rs1565175476	460	R>Q		No	Ensembl
rs767368302	460	R>W		No	ExAC TOPMed gnomAD
rs750240591	461	R>C		No	ExAC TOPMed gnomAD
rs1176211758	461	R>H		No	TOPMed gnomAD
TCGA novel	461	R>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM2149930	462	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1424764585	462	Q>R		No	TOPMed gnomAD
rs997873753	466	E>K		No	TOPMed
rs1304907397	468	A>T		No	TOPMed gnomAD
rs1168792855	468	A>V		No	TOPMed gnomAD
rs753268348	470	T>I		No	ExAC TOPMed gnomAD
rs1565175556	472	E>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
TCGA novel	474	C>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs753154634	475	A>P		No	ExAC gnomAD
rs889748340	477	R>C		No	TOPMed gnomAD
rs889748340	477	R>G		No	TOPMed gnomAD
rs758920420	477	R>H		No	ExAC TOPMed gnomAD
rs758920420	477	R>L		No	ExAC TOPMed gnomAD
rs200379774	479	R>C		No	ExAC TOPMed gnomAD
rs200379774	479	R>G		No	ExAC TOPMed gnomAD
rs151114879	479	R>H		No	ESP ExAC TOPMed gnomAD
rs1856777622	481	Q>*		No	TOPMed
rs2134837218	482	G>D		No	Ensembl
rs1590874352	484	D>A		No	Ensembl
RCV001920385 rs548909140	486	A>T		No	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1019534849	487	S>G		No	Ensembl
rs1856785638	487	S>R		No	gnomAD
rs780321229	489	T>A		No	Ensembl
rs180676892	490	K>N		No	1000Genomes ExAC gnomAD
rs1856786097	490	K>T		No	Ensembl
rs568623908	491	V>M		No	1000Genomes ExAC gnomAD
rs202239902	493	E>K		No	1000Genomes ExAC TOPMed gnomAD
rs1159278640	494	L>P		No	gnomAD
rs372035425	500	G>C		No	ESP ExAC TOPMed gnomAD
rs375985797	500	G>V		No	ESP ExAC TOPMed gnomAD
rs1174752771	501	R>S		No	Ensembl
rs201554573	502	R>G		No	ExAC TOPMed gnomAD
rs139714613	502	R>P		No	ESP ExAC TOPMed gnomAD
rs139714613	502	R>Q		No	ESP ExAC TOPMed gnomAD
rs201554573	502	R>W		No	ExAC TOPMed gnomAD
rs1856790119	503	G>*		No	TOPMed
rs1590874557	504	D>A		No	Ensembl
rs199498417 RCV002194409	505	R>C		No	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs757724338	505	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs199498417	505	R>S		No	1000Genomes ExAC TOPMed gnomAD
COSM1298444 rs767861682 RCV002030243	506	R>C	urinary_tract [Cosmic]	No	cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs767861682	506	R>G		No	1000Genomes ExAC TOPMed gnomAD
rs1483785749	506	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs780477331	507	S>R		No	ExAC gnomAD
rs1590874650	508	S>I		No	Ensembl
TCGA novel	509	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs778882287 COSM1322244	511	M>I	Variant assessed as Somatic; MODERATE impact. ovary [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1856792582	511	M>L		No	Ensembl
rs1156836386	513	G>A		No	gnomAD
rs1420871013	513	G>R		No	gnomAD
rs979715053	514	G>R		No	gnomAD
rs979715053	514	G>S		No	gnomAD
rs1466375793	514	G>V		No	gnomAD
rs2134837952	515	A>V		No	Ensembl
rs745720280	516	G>R		No	ExAC TOPMed gnomAD
rs1331503781	516	G>V		No	TOPMed gnomAD
RCV002129648 rs2276036 VAR_020379	517	P>S		No	ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2276036	517	P>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs775162419	518	R>G		No	ExAC TOPMed gnomAD
rs768160463	518	R>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs768160463	518	R>Q		No	ExAC TOPMed gnomAD
rs775162419	518	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1432266771	520	E>Q		No	gnomAD
rs1261627042	521	S>F		No	gnomAD
rs1323157812	523	L>F		No	gnomAD
COSM1356147	523	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs762311202	524	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs762311202	524	E>Q		No	ExAC TOPMed gnomAD
rs750799902	526	V>L		No	ExAC TOPMed gnomAD
rs750799902	526	V>M		No	ExAC TOPMed gnomAD
rs761164189	528	P>R		No	ExAC gnomAD
rs1856797431	528	P>T		No	TOPMed
rs754043580	531	E>Q		No	ExAC gnomAD
rs1856798216	534	G>R		No	TOPMed
COSM1356148	535	D>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1169196756	535	D>V		No	gnomAD
rs766793057	536	G>S		No	ExAC gnomAD
rs1856804161	537	S>I		No	Ensembl
rs1047182515	538	G>A		No	gnomAD
rs1047182515	538	G>D		No	gnomAD
rs1345375468	539	S>P		No	TOPMed gnomAD
rs1401018170	540	L>*		No	gnomAD
rs759799970	540	L>F		No	ExAC gnomAD
rs1856805638 COSM930687	542	R>C	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs1463787230 COSM4035650	542	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
TCGA novel	543	S>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1313610754	544	G>D		No	gnomAD
rs1565176270	544	G>S		No	Ensembl
TCGA novel	549	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM194361 rs1856807611	550	R>Q	large_intestine [Cosmic]	No	cosmic curated Ensembl
rs758512812	550	R>W		No	ExAC TOPMed gnomAD
rs1565176310 RCV000761783	554	R>K		No	ClinVar Ensembl dbSNP
COSM4470496	555	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1041125019	555	R>H		No	TOPMed gnomAD
rs370396454	555	R>S		No	ESP
rs1474256706	556	S>G		No	gnomAD
rs1856809260	558	E>K		No	Ensembl
TCGA novel	558	E>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	559	M>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1474721348	560	L>P		No	gnomAD
rs779755003	565	Q>H		No	ExAC TOPMed gnomAD
rs1413986281	566	G>R		No	gnomAD
rs772643711	567	G>A	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	568	T>H	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs369777069	569	P>L		No	ESP ExAC TOPMed gnomAD
rs754639818	569	P>S		No	ExAC TOPMed gnomAD
TCGA novel	570	Q>P	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1183967253 COSM2167281	570	Q>R	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA
rs1462825170	571	E>K		No	TOPMed gnomAD
rs1856813703	572	P>L		No	Ensembl
rs747870822	572	P>S		No	ExAC TOPMed gnomAD
rs747870822	572	P>T		No	ExAC TOPMed gnomAD
rs373545778	573	P>A		No	ESP ExAC TOPMed gnomAD
rs373545778	573	P>S		No	ESP ExAC TOPMed gnomAD
rs544409539	574	N>K		No	1000Genomes ExAC gnomAD
rs1856814289	575	P>T		No	Ensembl
rs747748117	579	R>L		No	ExAC TOPMed gnomAD
rs747748117 COSM4035651	579	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	579	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1856830444	580	A>D		No	TOPMed
rs1856830309	580	A>S		No	Ensembl
rs777417251	583	L>F		No	ExAC gnomAD
rs1277875696	587	N>K		No	gnomAD
rs368032225	587	N>S		No	ESP ExAC gnomAD
rs1242067171	588	K>E		No	TOPMed gnomAD
rs768421095	589	S>I		No	gnomAD
rs768421095	589	S>T		No	gnomAD
rs746416190	590	V>L		No	ExAC TOPMed gnomAD
rs746416190	590	V>M		No	ExAC TOPMed gnomAD
rs770003997	592	E>K		No	ExAC gnomAD
rs534092442	593	P>L		No	ExAC TOPMed gnomAD
rs534092442	593	P>Q		No	ExAC TOPMed gnomAD
rs764364153	594	T>S		No	ExAC gnomAD
rs761924932	595	Q>H		No	ExAC gnomAD
rs1856833383	595	Q>K		No	Ensembl
rs1465132349	597	G>E		No	gnomAD
rs1298217460	598	G>C		No	gnomAD
rs1856870086	598	G>D		No	gnomAD
rs765899272	599	T>A		No	ExAC TOPMed gnomAD
rs754288186	599	T>R		No	ExAC gnomAD
rs1565177396	600	G>D		No	Ensembl
rs1590877703	602	S>F		No	gnomAD
rs1590877703	602	S>Y		No	gnomAD
rs78023731	603	D>A		No	Ensembl
rs2134844736	604	S>G		No	Ensembl
rs779248192	605	R>C		No	ExAC TOPMed gnomAD
COSM1356149 rs1261523769	605	R>H	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs1025916525	607	L>F		No	TOPMed gnomAD
rs1025916525	607	L>V		No	TOPMed gnomAD
rs1253130952	608	S>N		No	gnomAD
rs748605249	609	S>C		No	ExAC TOPMed gnomAD
rs748605249	609	S>F		No	ExAC TOPMed gnomAD
rs1046615662	609	S>P		No	TOPMed
rs758527823	612	M>R		No	ExAC TOPMed gnomAD
rs758527823	612	M>T		No	ExAC TOPMed gnomAD
rs1856873414	612	M>V		No	Ensembl
rs1250905026	614	L>V		No	gnomAD
rs986970353	616	R>*		No	TOPMed
rs778099615	616	R>Q		No	ExAC TOPMed gnomAD
rs1565177504	617	R>*		No	gnomAD
COSM1356150 rs373644165	617	R>Q	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ESP NCI-TCGA TOPMed gnomAD
rs199891834	618	S>N		No	TOPMed gnomAD
rs1432209860	618	S>R		No	gnomAD
rs1170601967	619	S>P		No	gnomAD
rs1355767241	620	L>M		No	TOPMed gnomAD
rs1355767241	620	L>V		No	TOPMed gnomAD
rs1307975713	621	V>M		No	gnomAD
rs1366682746	622	G>D		No	gnomAD
rs747228682	622	G>R		No	ExAC

1 associated diseases with Q9H0B6

[MIM: 609541]: Spastic paraplegia, optic atrophy, and neuropathy (SPOAN)

A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPOAN is characterized by spastic paraplegia with progressive joint contractures and spine deformities, loss of independent ambulation by age 10 years, sub-normal vision secondary to congenital optic atrophy, and neuropathy. Inheritance is autosomal recessive. . Note=The gene represented in this entry is involved in disease pathogenesis. The disease is caused by a homozygous deletion in the non-coding region of the KLC2 gene. .

Without disease ID

A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPOAN is characterized by spastic paraplegia with progressive joint contractures and spine deformities, loss of independent ambulation by age 10 years, sub-normal vision secondary to congenital optic atrophy, and neuropathy. Inheritance is autosomal recessive. . Note=The gene represented in this entry is involved in disease pathogenesis. The disease is caused by a homozygous deletion in the non-coding region of the KLC2 gene. .

5 regional properties for Q9H0B6

Type	Name	Position	InterPro Accession
repeat	Kinesin light chain repeat	265 - 306	IPR015792
repeat	Tetratricopeptide repeat	240 - 273	IPR019734-1
repeat	Tetratricopeptide repeat	282 - 315	IPR019734-2
repeat	Tetratricopeptide repeat	324 - 357	IPR019734-3
repeat	Tetratricopeptide repeat	366 - 399	IPR019734-4

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm, cytoskeleton Lysosome membrane ; Peripheral membrane protein ; Cytoplasmic side
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

11 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
kinesin complex	Any complex that includes a dimer of molecules from the kinesin superfamily, a group of related proteins that contain an extended region of predicted alpha-helical coiled coil in the main chain that likely produces dimerization. The native complexes of several kinesin family members have also been shown to contain additional peptides, often designated light chains as all of the noncatalytic subunits that are currently known are smaller than the chain that contains the motor unit. Kinesin complexes generally possess a force-generating enzymatic activity, or motor, which converts the free energy of the gamma phosphate bond of ATP into mechanical work.
kinesin I complex	A complex of two kinesin heavy chains and two kinesin light chains.
lysosomal membrane	The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it and attached to it.
microtubule	Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle.
mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
protein-containing complex	A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.

2 GO annotations of molecular function

Name	Definition
cadherin binding	Binding to cadherin, a type I membrane protein involved in cell adhesion.
kinesin binding	Interacting selectively and non-covalently and stoichiometrically with kinesin, a member of a superfamily of microtubule-based motor proteins that perform force-generating tasks such as organelle transport and chromosome segregation.

2 GO annotations of biological process

Name	Definition
lysosome localization	Any process in which a lysosome is transported to, and/or maintained in, a specific location.
microtubule-based movement	A microtubule-based process that results in the movement of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules.

13 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q2HJJ0	KLC4	Kinesin light chain 4	Bos taurus (Bovine)	SS
Q2TBQ9	KLC3	Kinesin light chain 3	Bos taurus (Bovine)	SS
P46824	Klc	Kinesin light chain	Drosophila melanogaster (Fruit fly)	SS
Q9NSK0	KLC4	Kinesin light chain 4	Homo sapiens (Human)	SS
Q6P597	KLC3	Kinesin light chain 3	Homo sapiens (Human)	SS
Q07866	KLC1	Kinesin light chain 1	Homo sapiens (Human)	SS
Q9DBS5	Klc4	Kinesin light chain 4	Mus musculus (Mouse)	SS
O88447	Klc1	Kinesin light chain 1	Mus musculus (Mouse)	SS
Q91W40	Klc3	Kinesin light chain 3	Mus musculus (Mouse)	SS
O88448	Klc2	Kinesin light chain 2	Mus musculus (Mouse)	EV
P37285	Klc1	Kinesin light chain 1	Rattus norvegicus (Rat)	SS
Q5PQM2	Klc4	Kinesin light chain 4	Rattus norvegicus (Rat)	SS
Q68G30	Klc3	Kinesin light chain 3	Rattus norvegicus (Rat)	SS

10	20	30	40	50	60
MAMMVFPREE	KLSQDEIVLG	TKAVIQGLET	LRGEHRALLA	PLVAPEAGEA	EPGSQERCIL
70	80	90	100	110	120
LRRSLEAIEL	GLGEAQVILA	LSSHLGAVES	EKQKLRAQVR	RLVQENQWLR	EELAGTQQKL
130	140	150	160	170	180
QRSEQAVAQL	EEEKQHLLFM	SQIRKLDEDA	SPNEEKGDVP	KDTLDDLFPN	EDEQSPAPSP
190	200	210	220	230	240
GGGDVSGQHG	GYEIPARLRT	LHNLVIQYAS	QGRYEVAVPL	CKQALEDLEK	TSGHDHPDVA
250	260	270	280	290	300
TMLNILALVY	RDQNKYKEAA	HLLNDALAIR	EKTLGKDHPA	VAATLNNLAV	LYGKRGKYKE
310	320	330	340	350	360
AEPLCKRALE	IREKVLGKFH	PDVAKQLSNL	ALLCQNQGKA	EEVEYYYRRA	LEIYATRLGP
370	380	390	400	410	420
DDPNVAKTKN	NLASCYLKQG	KYQDAETLYK	EILTRAHEKE	FGSVNGDNKP	IWMHAEEREE
430	440	450	460	470	480
SKDKRRDSAP	YGEYGSWYKA	CKVDSPTVNT	TLRSLGALYR	RQGKLEAAHT	LEDCASRNRK
490	500	510	520	530	540
QGLDPASQTK	VVELLKDGSG	RRGDRRSSRD	MAGGAGPRSE	SDLEDVGPTA	EWNGDGSGSL
550	560	570	580	590	600
RRSGSFGKLR	DALRRSSEML	VKKLQGGTPQ	EPPNPRMKRA	SSLNFLNKSV	EEPTQPGGTG
610	620
LSDSRTLSSS	SMDLSRRSSL	VG