AiPD: Autoinhibited Protein Database

Q6P597

Gene name	KLC3 (KLC2, KLC2L)
Protein name	Kinesin light chain 3
Names	KLC2-like , kinesin light chain 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:147700
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)

149-205 (the flexible linker region) SS

Target domain	206-410 (Cargo binding site on the TPR domain)
Relief mechanism	Partner binding
Assay

AID

149-205 (the flexible linker region)

Target domain

206-410 (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

1 structures for Q6P597

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q6P597-F1	Predicted				AlphaFoldDB

781 variants for Q6P597

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV003238040 rs368153383 COSM3104023 RCV003346691	496	A>T	Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases [NCI-TCGA, ClinVar]	Yes	NCI-TCGA Cosmic ClinVar ESP NCI-TCGA TOPMed dbSNP gnomAD
rs1599706155	2	S>F		No	TOPMed
rs778904640	2	S>P		No	ExAC TOPMed gnomAD
rs1186317683	3	V>L		No	gnomAD
rs1599706166	4	Q>E		No	Ensembl
rs1971469441	4	Q>H		No	Ensembl
rs374341318	4	Q>L		No	1000Genomes ExAC TOPMed gnomAD
rs374341318	4	Q>R		No	1000Genomes ExAC TOPMed gnomAD
rs1167178371	5	V>A		No	gnomAD
rs768542894	5	V>I		No	ExAC TOPMed gnomAD
rs780895997	6	A>V		No	1000Genomes ExAC TOPMed gnomAD
rs959227782	8	P>A		No	TOPMed gnomAD
rs959227782	8	P>T		No	TOPMed gnomAD
rs747961736	9	G>E		No	ExAC gnomAD
rs1396398901	9	G>R		No	TOPMed
rs747961736	9	G>V		No	ExAC gnomAD
rs1445509872	10	S>N		No	gnomAD
rs1292489185	11	A>T		No	gnomAD
rs1205011843	14	G>D		No	TOPMed gnomAD
rs1349374992	14	G>S		No	TOPMed gnomAD
rs1205011843	14	G>V		No	TOPMed gnomAD
rs1449273361	15	P>L		No	gnomAD
rs1257332373	16	E>D		No	TOPMed gnomAD
rs983830837	16	E>G		No	TOPMed gnomAD
rs970742008	16	E>K		No	TOPMed gnomAD
rs762644065 COSM998175	17	R>C	endometrium [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs762644065	17	R>G		No	ExAC TOPMed gnomAD
COSM3823409 rs541951781	17	R>H	breast [Cosmic]	No	cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs541951781	17	R>L		No	1000Genomes ExAC TOPMed gnomAD
rs760024591	18	L>P		No	ExAC TOPMed gnomAD
rs767925881	19	S>R		No	ExAC gnomAD
TCGA novel	20	P>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1358240247	20	P>S		No	TOPMed
rs1232315080	21	E>D		No	TOPMed
rs1387003727	22	E>D		No	TOPMed gnomAD
rs938016827	22	E>Q		No	Ensembl
rs566315140	24	V>A		No	1000Genomes ExAC TOPMed gnomAD
rs546355544	24	V>L		No	1000Genomes ExAC TOPMed gnomAD
rs546355544	24	V>M		No	1000Genomes ExAC TOPMed gnomAD
rs1305825219	25	R>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1305825219	25	R>Q		No	TOPMed gnomAD
rs1416204786	25	R>W		No	TOPMed gnomAD
rs1334859147	26	Q>*		No	TOPMed gnomAD
rs529082376	27	T>M		No	1000Genomes ExAC TOPMed gnomAD
rs750471618	28	R>P		No	ExAC TOPMed gnomAD
rs750471618	28	R>Q		No	ExAC TOPMed gnomAD
COSM4654612 rs773481222	28	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs1971472236	30	V>G		No	TOPMed
rs1279977910	30	V>M		No	gnomAD
rs1486220648	31	V>F		No	TOPMed gnomAD
rs1248660021	32	Q>H		No	TOPMed gnomAD
rs1213224891	32	Q>P		No	TOPMed gnomAD
rs1213224891	32	Q>R		No	TOPMed gnomAD
rs754885164	33	G>R		No	ExAC gnomAD
rs1182608338	34	L>P		No	gnomAD
rs912328571	35	E>D		No	TOPMed gnomAD
rs1971472703	35	E>G		No	TOPMed
rs1212828616	35	E>K		No	TOPMed gnomAD
rs769554893	36	A>E		No	ExAC TOPMed gnomAD
rs376299711	36	A>S		No	ESP ExAC TOPMed gnomAD
rs376299711	36	A>T		No	ESP ExAC TOPMed gnomAD
COSM1394583 rs769554893	36	A>V	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs770498926	38	R>Q		No	ExAC TOPMed gnomAD
rs1045947420	38	R>W		No	TOPMed gnomAD
rs1463636922	39	A>P		No	Ensembl
rs1330248124	42	H>R		No	gnomAD
rs1368156129	43	G>V		No	gnomAD
rs1303341176	45	A>G		No	TOPMed gnomAD
rs2123180518	45	A>S		No	Ensembl
rs1303341176	45	A>V		No	TOPMed gnomAD
rs772663403	46	G>R		No	ExAC gnomAD
rs1338963305	48	L>R		No	gnomAD
rs764536357	49	A>E		No	ExAC TOPMed gnomAD
rs764536357	49	A>V		No	ExAC TOPMed gnomAD
rs1971474071	50	E>D		No	TOPMed gnomAD
rs1971474027	50	E>G		No	TOPMed
rs1467215747	50	E>K		No	gnomAD
rs765389608	53	A>E		No	ExAC TOPMed gnomAD
rs762027896	53	A>T		No	ExAC TOPMed gnomAD
rs765389608	53	A>V		No	ExAC TOPMed gnomAD
rs1372302594	54	G>V		No	gnomAD
rs1462121413	55	Q>*		No	gnomAD
rs1971474740	55	Q>H		No	Ensembl
rs1462121413	55	Q>K		No	gnomAD
rs1568521733	56	G>D		No	TOPMed gnomAD
rs1169318485	56	G>R		No	gnomAD
rs1169318485	56	G>S		No	gnomAD
rs569097340	57	P>L		No	1000Genomes ExAC TOPMed gnomAD
rs569097340	57	P>Q		No	1000Genomes ExAC TOPMed gnomAD
rs569097340	57	P>R		No	1000Genomes ExAC TOPMed gnomAD
rs2123180735	59	A>T		No	Ensembl
rs557080121	59	A>V		No	1000Genomes ExAC TOPMed gnomAD
rs868488774	60	G>D		No	Ensembl
rs890899037	60	G>S		No	TOPMed gnomAD
rs1568521766	61	L>W		No	Ensembl
rs756887832	64	L>P		No	ExAC TOPMed gnomAD
rs756887832	64	L>R		No	ExAC TOPMed gnomAD
rs1326211079	64	L>V		No	gnomAD
rs1253274852	65	E>K		No	gnomAD
rs1253274852	65	E>Q		No	gnomAD
rs1278795296	66	E>V		No	TOPMed gnomAD
rs1568521780	67	K>Q		No	Ensembl
rs1014842238	69	Q>K		No	TOPMed
rs1213141627	69	Q>P		No	gnomAD
rs745572060	70	V>L		No	ExAC gnomAD
rs865817469	71	V>M		No	TOPMed gnomAD
rs1428920172	72	S>N		No	gnomAD
rs1367796641	73	H>R		No	TOPMed gnomAD
rs775194648	74	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1971476384	75	L>R		No	Ensembl
rs1164987526	76	E>D		No	gnomAD
rs974260494 COSM215783	78	I>M	central_nervous_system [Cosmic]	No	cosmic curated gnomAD
rs1971476537	78	I>T		No	TOPMed
rs1287660566	79	E>K		No	TOPMed gnomAD
rs1971476761	80	L>P		No	Ensembl
COSM1394584 rs769289827	84	E>K	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1027226658	85	A>T		No	TOPMed
rs776994044	85	A>V		No	ExAC TOPMed gnomAD
rs1353787944	86	Q>K		No	gnomAD
rs1971477249	86	Q>R		No	Ensembl
rs1971494704	87	V>A		No	Ensembl
rs370852508	87	V>L		No	ESP TOPMed gnomAD
rs370852508	87	V>M		No	ESP TOPMed gnomAD
rs1971494937	89	L>R		No	Ensembl
rs1297624582	90	A>G		No	gnomAD
rs1297624582	90	A>V		No	gnomAD
rs1023409276	91	L>P		No	TOPMed gnomAD
rs374654450	92	S>L		No	ESP ExAC TOPMed gnomAD
rs374654450	92	S>W		No	ESP ExAC TOPMed gnomAD
COSM1394586	93	A>G	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs981772690	94	H>L		No	TOPMed
rs758187633	94	H>Y		No	ExAC TOPMed gnomAD
rs779638478	95	V>G		No	ExAC gnomAD
rs1458731451	97	A>T		No	gnomAD
rs1191262377	98	L>P		No	gnomAD
rs577217236	99	E>*		No	1000Genomes gnomAD
rs577217236	99	E>K		No	1000Genomes gnomAD
rs961897072	100	A>E		No	TOPMed gnomAD
rs1189412681	101	E>Q		No	TOPMed gnomAD
rs1408352691	103	Q>*		No	gnomAD
rs1355136179	104	R>Q		No	TOPMed gnomAD
rs1170042912	104	R>W		No	TOPMed gnomAD
rs372402110	106	R>C		No	1000Genomes ESP ExAC TOPMed gnomAD
rs375944183	106	R>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs375944183	106	R>P		No	1000Genomes ESP ExAC TOPMed gnomAD
rs573404556	107	S>L		No	1000Genomes ExAC TOPMed gnomAD
TCGA novel	108	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2123183449	108	Q>K		No	Ensembl
rs774367954	108	Q>R		No	ExAC
rs1198312774	109	A>S		No	TOPMed gnomAD
rs1273243780	110	R>G		No	TOPMed gnomAD
rs759646098	110	R>Q		No	ExAC TOPMed gnomAD
rs1273243780	110	R>W		No	TOPMed gnomAD
rs944803977	111	R>G		No	TOPMed gnomAD
rs972629521	111	R>Q		No	gnomAD
rs944803977	111	R>W		No	TOPMed gnomAD
rs1222955162	112	L>M		No	TOPMed gnomAD
rs1326605030	112	L>R		No	TOPMed gnomAD
rs1186347698	114	Q>*		No	TOPMed gnomAD
rs1424563919	114	Q>P		No	TOPMed gnomAD
rs1424563919	114	Q>R		No	TOPMed gnomAD
rs1478959698	115	E>K		No	gnomAD
rs1162810845	116	N>S		No	TOPMed gnomAD
rs753694667	117	V>A		No	ExAC gnomAD
rs753694667	117	V>G		No	ExAC gnomAD
rs931015525	117	V>M		No	gnomAD
TCGA novel rs757272499	118	W>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA ExAC TOPMed gnomAD
rs1971498658	119	L>P		No	Ensembl
rs764933269	120	R>G		No	ExAC TOPMed gnomAD
rs750236355	120	R>L		No	ExAC TOPMed gnomAD
rs750236355	120	R>P		No	ExAC TOPMed gnomAD
rs750236355	120	R>Q		No	ExAC TOPMed gnomAD
rs764933269	120	R>W		No	ExAC TOPMed gnomAD
rs1469112803	121	E>D		No	TOPMed
rs758066797	121	E>G		No	ExAC TOPMed gnomAD
rs1971499049	121	E>Q		No	TOPMed
rs758066797	121	E>V		No	ExAC TOPMed gnomAD
rs1971499327	123	L>P		No	TOPMed gnomAD
rs1971499327	123	L>R		No	TOPMed gnomAD
rs1229343175	124	E>K		No	gnomAD
rs200641209	126	T>M		No	1000Genomes ESP ExAC TOPMed gnomAD
rs200641209	126	T>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1971500111	127	Q>H		No	TOPMed
rs1445813931	127	Q>R		No	TOPMed gnomAD
rs748598401	128	R>L		No	ExAC TOPMed gnomAD
rs748598401	128	R>Q		No	ExAC TOPMed gnomAD
rs1215504878	128	R>W		No	TOPMed gnomAD
rs777945495	129	R>G		No	ExAC TOPMed gnomAD
rs749679590	129	R>Q		No	ExAC TOPMed gnomAD
rs777945495	129	R>W		No	ExAC TOPMed gnomAD
rs2123183793	130	L>F		No	Ensembl
rs771103877	130	L>P		No	ExAC TOPMed gnomAD
rs2123183793	130	L>V		No	Ensembl
rs772029892	131	R>Q		No	ExAC TOPMed gnomAD
rs774528812	131	R>W		No	ExAC TOPMed gnomAD
rs1971500941	132	A>G		No	TOPMed
rs1400102735	132	A>T		No	gnomAD
rs1318654671	133	S>C		No	gnomAD
rs1318654671	133	S>G		No	gnomAD
rs1971501225	134	E>A		No	TOPMed
rs369257383	134	E>K		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1355749997	135	E>K		No	gnomAD
COSM4824539	135	E>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1277330316	136	S>P		No	TOPMed gnomAD
rs1971501621	137	V>A		No	Ensembl
rs1971501621	137	V>G		No	Ensembl
rs371993206	137	V>M		No	ESP ExAC TOPMed gnomAD
rs868176102	139	Q>*		No	gnomAD
rs868176102	139	Q>E		No	gnomAD
rs868176102	139	Q>K		No	gnomAD
rs1971501950	141	E>Q		No	Ensembl
rs1971502011	142	E>*		No	TOPMed
rs766315749	143	E>D		No	ExAC gnomAD
rs111563584	143	E>G		No	ExAC gnomAD
rs750192790	143	E>K		No	ExAC gnomAD
COSM1481220 rs201298939	144	K>N	breast [Cosmic]	No	cosmic curated ESP ExAC TOPMed gnomAD
rs531565659	145	R>C		No	1000Genomes ExAC TOPMed gnomAD
rs1469502761	145	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs780502639	146	H>Y		No	ExAC gnomAD
rs551361908	147	L>M		No	1000Genomes gnomAD
rs1265114702	148	E>G		No	TOPMed gnomAD
rs1283840412	148	E>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1971503118	151	G>A		No	TOPMed
rs1971503118	151	G>E		No	TOPMed
rs1442051440	152	Q>*		No	gnomAD
rs1599708017	153	L>P		No	gnomAD
rs779303384	154	R>*		No	ExAC TOPMed gnomAD
rs746083196	154	R>Q		No	ExAC TOPMed gnomAD
rs772341059	155	Q>K		No	ExAC TOPMed gnomAD
rs369381159	156	Y>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1009407150	157	D>A		No	TOPMed gnomAD
TCGA novel	157	D>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs201117856	157	D>N		No	1000Genomes ESP ExAC TOPMed gnomAD
rs201117856	157	D>Y		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1019369820	158	P>S		No	TOPMed gnomAD
rs76874841	159	P>L		No	1000Genomes ExAC TOPMed gnomAD
rs76874841	159	P>R		No	1000Genomes ExAC TOPMed gnomAD
rs1971504269	160	A>T		No	TOPMed
rs759054249	160	A>V		No	ExAC TOPMed gnomAD
rs1300712626	161	E>G		No	gnomAD
rs1165815561	161	E>K		No	gnomAD
rs767223868	162	S>R		No	ExAC TOPMed gnomAD
rs1025556238	163	Q>*		No	TOPMed gnomAD
rs752111301	163	Q>H		No	ExAC TOPMed gnomAD
rs1025556238	163	Q>K		No	TOPMed gnomAD
rs1971504655	163	Q>R		No	TOPMed
rs777777186	165	S>T		No	ExAC gnomAD
rs1971530566	167	S>A		No	TOPMed
rs1971530566	167	S>P		No	TOPMed
rs771903504	168	P>L		No	ExAC TOPMed gnomAD
rs771903504	168	P>R		No	ExAC TOPMed gnomAD
rs745809350	168	P>S		No	ExAC TOPMed gnomAD
rs1440914560	169	P>L		No	gnomAD
rs768255510	170	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs138131641	170	R>H		No	1000Genomes ExAC TOPMed gnomAD
rs200688304	171	R>*		No	1000Genomes ESP ExAC TOPMed gnomAD
rs769279829	171	R>Q		No	ExAC TOPMed gnomAD
rs1971531100	173	S>N		No	TOPMed
rs1971531201	174	L>V		No	Ensembl
rs772603260	175	A>P		No	ExAC TOPMed gnomAD
rs772603260	175	A>T		No	ExAC TOPMed gnomAD
rs558805867	176	S>F		No	1000Genomes ExAC TOPMed gnomAD
rs759951593	179	P>L		No	ExAC TOPMed gnomAD
rs1971531787	180	S>G		No	Ensembl
rs1219640708	180	S>N		No	TOPMed gnomAD
rs373228076	180	S>R		No	ESP ExAC TOPMed gnomAD
rs1302917549	181	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1197445498	182	E>K		No	TOPMed gnomAD
rs1971532224	182	E>V		No	TOPMed
rs1258162966	185	R>K		No	TOPMed gnomAD
rs1971532410	186	K>*		No	TOPMed gnomAD
rs765406475	187	G>A		No	ExAC
rs1971532456	187	G>C		No	gnomAD
rs780908090	191	A>T		No	ExAC TOPMed gnomAD
rs1236984604	192	G>E		No	gnomAD
rs777262651	193	A>T		No	ExAC TOPMed gnomAD
rs1599709893	193	A>V		No	Ensembl
rs1971546065	194	A>V		No	Ensembl
rs1378463099	195	A>P		No	gnomAD
rs1378463099	195	A>T		No	gnomAD
rs749020522	196	A>P		No	ExAC gnomAD
rs1568523715	198	Q>*		No	Ensembl
rs180782823	198	Q>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1971546385	198	Q>L		No	gnomAD
rs774075919	199	G>S		No	ExAC TOPMed gnomAD
rs1449334103	201	Y>C		No	gnomAD
rs1449334103	201	Y>F		No	gnomAD
rs746313732	201	Y>H		No	ExAC gnomAD
rs775945143	202	E>A		No	ExAC TOPMed gnomAD
TCGA novel	202	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs772716114	202	E>K		No	ExAC TOPMed gnomAD
rs1356041046	204	P>L		No	TOPMed gnomAD
rs186054339	205	A>P		No	1000Genomes ExAC TOPMed gnomAD
COSM1581117 rs186054339	205	A>S	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs186054339	205	A>T		No	1000Genomes ExAC TOPMed gnomAD
rs1277945923	205	A>V		No	gnomAD
rs201123181	206	R>C		No	1000Genomes ESP ExAC TOPMed gnomAD
COSM1481221 rs762151883	206	R>H	large_intestine breast [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs762151883	206	R>P		No	ExAC TOPMed gnomAD
rs750506615	208	R>P		No	ExAC TOPMed gnomAD
rs750506615	208	R>Q		No	ExAC TOPMed gnomAD
rs367618092	208	R>W		No	ESP ExAC TOPMed gnomAD
rs200932746	210	L>M		No	ExAC TOPMed gnomAD
rs1171659739	210	L>P		No	gnomAD
rs1568523787	211	H>Y		No	gnomAD
rs752672515	212	N>T		No	ExAC gnomAD
rs1251256835	213	L>F		No	TOPMed gnomAD
rs1251256835	213	L>I		No	TOPMed gnomAD
rs374861234	214	V>M		No	ESP ExAC TOPMed gnomAD
rs1245580116	216	Q>*		No	TOPMed
rs377345956	217	Y>*		No	ExAC TOPMed gnomAD
rs1310404726	217	Y>C		No	gnomAD
rs368152525	218	A>E		No	ESP ExAC TOPMed gnomAD
rs778504884	218	A>T		No	ExAC TOPMed gnomAD
rs368152525	218	A>V		No	ESP ExAC TOPMed gnomAD
rs1971548584	219	G>R		No	TOPMed gnomAD
rs747597891	220	Q>*		No	ExAC gnomAD
rs747597891	220	Q>E		No	ExAC gnomAD
rs1971548823	221	G>D		No	TOPMed gnomAD
rs201590999	222	R>C		No	ESP ExAC TOPMed gnomAD
rs777118881	222	R>H		No	ExAC gnomAD
rs777118881	222	R>P		No	ExAC gnomAD
rs375227194	223	Y>H		No	ESP ExAC TOPMed gnomAD
rs1380532612	224	E>A		No	TOPMed
rs1377831146	225	V>M		No	gnomAD
rs369849969	226	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs1249200801	227	V>M		No	TOPMed
rs1971549452	228	P>L		No	gnomAD
rs766496895	230	C>G		No	ExAC gnomAD
rs375917528	231	R>C		No	ESP ExAC TOPMed gnomAD
rs199949315	231	R>H		No	ESP ExAC TOPMed gnomAD
rs1331834939	232	Q>H		No	TOPMed gnomAD
rs867670630	233	A>V		No	Ensembl
rs1311761506	235	E>G		No	TOPMed gnomAD
rs1971550137	236	D>N		No	TOPMed
rs756806971	238	E>K		No	ExAC gnomAD
rs778735958	239	R>C		No	ExAC TOPMed gnomAD
rs778735958	239	R>G		No	ExAC TOPMed gnomAD
rs750137771	239	R>H		No	ExAC TOPMed gnomAD
rs778735958	239	R>S		No	ExAC TOPMed gnomAD
rs1208958778	240	S>N		No	TOPMed gnomAD
rs562915925	240	S>R		No	1000Genomes ExAC TOPMed gnomAD
rs143111353	241	S>*		No	1000Genomes ESP ExAC TOPMed gnomAD
rs143111353	241	S>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1477846520	242	G>D		No	gnomAD
rs1262084780	242	G>S		No	gnomAD
rs1456848430	243	H>P		No	TOPMed gnomAD
rs748576953	243	H>Y		No	ExAC TOPMed gnomAD
rs1038740835	244	C>G		No	Ensembl
COSM3823410	245	H>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1391938649	245	H>Y		No	gnomAD
rs770185766	246	P>R		No	ExAC TOPMed gnomAD
rs1568523964	246	P>S		No	TOPMed
rs1568523964	246	P>T		No	TOPMed
rs1340172893	247	D>N		No	gnomAD
rs1338561914	248	V>A		No	TOPMed gnomAD
rs763220618	248	V>L		No	ExAC TOPMed gnomAD
rs763220618	248	V>M		No	ExAC TOPMed gnomAD
COSM3823411	249	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	249	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs191350667	250	T>A		No	1000Genomes
rs1265762201	250	T>S		No	gnomAD
rs1358176548	251	M>I		No	TOPMed gnomAD
rs1971551748	251	M>V		No	Ensembl
rs2123189289	252	L>F		No	1000Genomes
TCGA novel	253	N>Q	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1971551917	253	N>T		No	gnomAD
rs774496737	254	I>V		No	ExAC
rs997233579	255	L>V		No	gnomAD
rs1195134533	256	A>P		No	TOPMed gnomAD
rs183162097	256	A>V		No	1000Genomes ESP ExAC TOPMed gnomAD
rs370748370	257	L>P		No	ESP ExAC TOPMed gnomAD
rs370748370	257	L>Q		No	ESP ExAC TOPMed gnomAD
rs1568524048	258	V>L		No	TOPMed
rs1568524048	258	V>M		No	TOPMed
rs1358803052	259	Y>C		No	gnomAD
rs762997304	260	R>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA
rs527867937	260	R>Q		No	1000Genomes TOPMed gnomAD
rs992741151	260	R>W		No	TOPMed gnomAD
rs762637411	261	D>G		No	1000Genomes ExAC gnomAD
rs1971571809	261	D>N		No	TOPMed
rs1971571809	261	D>Y		No	TOPMed
rs1417125251	262	Q>H		No	TOPMed
rs1971572067	263	N>D		No	Ensembl
rs766078436	263	N>K		No	ExAC gnomAD
rs1185615507	264	K>T		No	TOPMed
rs1971572342	265	Y>C		No	TOPMed
rs1971572294	265	Y>H		No	Ensembl
rs1971572447	266	K>N		No	Ensembl
rs35030295	267	E>A		No	ESP ExAC TOPMed gnomAD
rs1387026361	268	A>P		No	TOPMed gnomAD
rs1030243949	269	T>I		No	TOPMed gnomAD
rs1030243949	269	T>R		No	TOPMed gnomAD
rs753195719	272	L>F		No	ExAC gnomAD
rs202158624	273	H>D		No	ESP ExAC TOPMed gnomAD
rs1308665607	273	H>P		No	TOPMed gnomAD
rs1308665607	273	H>R		No	TOPMed gnomAD
rs202158624	273	H>Y		No	ESP ExAC TOPMed gnomAD
rs1207232701	274	D>E		No	TOPMed
rs1206998485	274	D>N		No	TOPMed gnomAD
rs894205871	277	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs894205871	277	Q>K		No	TOPMed gnomAD
rs1971573674	278	I>M		No	Ensembl
rs1170143981	278	I>S		No	TOPMed gnomAD
rs1170143981	278	I>T		No	TOPMed gnomAD
rs746129375	279	R>L		No	ExAC TOPMed gnomAD
rs746129375	279	R>Q		No	ExAC TOPMed gnomAD
rs374979022	279	R>W		No	ESP ExAC TOPMed gnomAD
rs1349113782	280	E>K		No	gnomAD
rs1971573970	281	Q>*		No	TOPMed
rs368244691	281	Q>H		No	ESP TOPMed
rs1971574016	281	Q>R		No	TOPMed
COSM77975 rs372026834	282	T>M	ovary [Cosmic]	No	cosmic curated ESP ExAC TOPMed gnomAD
rs2123191579	283	L>Q		No	Ensembl
rs927477032	284	G>D		No	TOPMed
rs748032734	285	P>L		No	ExAC
rs1398837710	286	E>K		No	gnomAD
rs199909048	287	H>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs762810209	288	P>S		No	ExAC TOPMed gnomAD
rs760163785	289	A>G		No	ExAC TOPMed gnomAD
rs774038497	289	A>P		No	ExAC TOPMed gnomAD
rs774038497	289	A>T		No	ExAC TOPMed gnomAD
rs760163785	289	A>V		No	ExAC TOPMed gnomAD
rs1971579584	290	V>A		No	TOPMed
rs1353180294	291	A>P		No	gnomAD
rs1353180294	291	A>S		No	gnomAD
rs1030136012	291	A>V		No	TOPMed gnomAD
rs763647964	292	A>P		No	ExAC TOPMed gnomAD
rs763647964	292	A>T		No	ExAC TOPMed gnomAD
COSM998177 rs754333103	293	T>M	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1971579848	293	T>P		No	Ensembl
rs754333103	293	T>R		No	ExAC TOPMed gnomAD
rs1182344717	294	L>P		No	TOPMed gnomAD
rs765572280	294	L>V		No	ExAC TOPMed gnomAD
rs373255026	296	N>K		No	ESP ExAC TOPMed gnomAD
rs1971580395	297	L>F		No	TOPMed
rs1971580453	298	A>V		No	TOPMed
rs1599711702	299	V>G		No	Ensembl
rs371094925	301	Y>C		No	ESP TOPMed gnomAD
rs371094925	301	Y>F		No	ESP TOPMed gnomAD
rs751879621	303	K>R		No	ExAC gnomAD
rs376837512	304	R>C		No	ExAC TOPMed gnomAD
rs534721284	304	R>H		No	1000Genomes ExAC TOPMed gnomAD
rs534721284	304	R>P		No	1000Genomes ExAC TOPMed gnomAD
rs1337687111	305	G>E		No	gnomAD
rs373683799	305	G>R		No	ESP ExAC TOPMed gnomAD
rs202191282 COSM215784	306	R>C	central_nervous_system [Cosmic]	No	cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs764623525 COSM1581118	306	R>H	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs1971581220	307	Y>*		No	gnomAD
rs151124589	308	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs199706544 COSM1581119	308	R>W	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1317286468	309	E>K		No	gnomAD
rs572140329	310	A>T		No	Ensembl
rs1263802046	310	A>V		No	TOPMed
rs1473365406	311	E>K		No	TOPMed gnomAD
rs1971581697	311	E>V		No	Ensembl
rs1971581945	315	Q>R		No	Ensembl
rs139080813	316	R>C		No	1000Genomes ExAC TOPMed gnomAD
rs190310418	316	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs139080813	316	R>S		No	1000Genomes ExAC TOPMed gnomAD
rs1481128884	317	A>S		No	TOPMed gnomAD
rs1481128884	317	A>T		No	TOPMed gnomAD
rs879206048	318	L>M		No	TOPMed gnomAD
rs182912549	319	E>K		No	1000Genomes ExAC TOPMed gnomAD
rs182912549	319	E>Q		No	1000Genomes ExAC TOPMed gnomAD
rs1599711823	320	I>M		No	Ensembl
rs1039770954	320	I>N		No	TOPMed gnomAD
rs1039770954	320	I>T		No	TOPMed gnomAD
rs372437894	321	R>*		No	ESP ExAC TOPMed gnomAD
rs1168809559	321	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes NCI-TCGA gnomAD
rs1971582924	322	E>A		No	Ensembl
rs1403997829	322	E>K		No	gnomAD
TCGA novel	323	K>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs201714772	323	K>N		No	1000Genomes ESP ExAC TOPMed gnomAD
rs908262739	323	K>R		No	TOPMed gnomAD
rs908262739	323	K>T		No	TOPMed gnomAD
rs764295731	324	V>A		No	ExAC gnomAD
rs764295731	324	V>G		No	ExAC gnomAD
rs756122530	324	V>I		No	ExAC gnomAD
rs750327090	330	P>L		No	ExAC TOPMed gnomAD
rs1451864007	331	D>H		No	TOPMed gnomAD
rs1451864007	331	D>N		No	TOPMed gnomAD
rs779769310	332	V>A		No	ExAC gnomAD
rs371687233	333	A>S		No	ESP ExAC TOPMed gnomAD
rs1971603608	334	K>E		No	TOPMed
rs780678159	334	K>N		No	ExAC gnomAD
rs376078212	335	Q>H		No	ESP ExAC TOPMed gnomAD
rs1321985941	338	N>H		No	gnomAD
rs1203613568	339	L>M		No	gnomAD
COSM1394590	341	L>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1462911668	342	L>P		No	gnomAD
rs1479104374	343	C>Y		No	gnomAD
rs978172298	344	Q>*		No	TOPMed gnomAD
rs1971604558	345	N>D		No	TOPMed gnomAD
rs1161327155	347	G>C		No	gnomAD
rs373571092	348	K>R		No	ESP ExAC TOPMed gnomAD
rs373571092	348	K>T		No	ESP ExAC TOPMed gnomAD
rs550325430	349	F>I		No	1000Genomes ExAC TOPMed gnomAD
rs1204181964	349	F>S		No	TOPMed gnomAD
rs1204181964	349	F>Y		No	TOPMed gnomAD
rs1408291144	350	E>D		No	TOPMed gnomAD
rs759945535	350	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs768039092	351	D>E		No	ExAC TOPMed gnomAD
COSM4079333	351	D>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1444296724	351	D>V		No	gnomAD
rs761028225	352	V>L		No	ExAC TOPMed gnomAD
rs761028225 COSM3389135	352	V>M	pancreas [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs916449048	353	E>A		No	TOPMed gnomAD
rs916449048	353	E>G		No	TOPMed gnomAD
rs760262930	354	R>G		No	ExAC TOPMed gnomAD
rs200273694	354	R>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs200273694 COSM1581120	354	R>Q	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs760262930	354	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs920412889	355	H>Y		No	gnomAD
rs369578721	356	Y>*		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1223638276	356	Y>C		No	gnomAD
rs759094002	358	R>G		No	ExAC TOPMed gnomAD
COSM3797252	358	R>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs201109148	358	R>Q		No	1000Genomes ExAC TOPMed gnomAD
rs759094002	358	R>W		No	ExAC TOPMed gnomAD
rs1202785762	359	A>T		No	gnomAD
rs770602596	362	I>T		No	ExAC gnomAD
rs1189644062	362	I>V		No	TOPMed gnomAD
rs1342582272	363	Y>C		No	TOPMed gnomAD
rs866034159	363	Y>D		No	TOPMed gnomAD
rs1342582272	363	Y>F		No	TOPMed gnomAD
rs866034159	363	Y>H		No	TOPMed gnomAD
rs1200296354	364	E>K		No	TOPMed gnomAD
rs1431281809	365	A>T		No	gnomAD
rs746432044	366	L>R		No	ExAC TOPMed gnomAD
rs779536241	366	L>V		No	ExAC TOPMed gnomAD
rs772322559	367	G>R		No	ExAC gnomAD
rs201196936	368	G>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs201196936	368	G>W		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1971608365	370	H>R		No	TOPMed
rs761851594	371	D>H		No	ExAC gnomAD
rs761851594	371	D>N		No	ExAC gnomAD
rs1568525677	372	P>S		No	Ensembl
rs1284649195	373	N>H		No	gnomAD
rs371987569	373	N>K		No	ESP ExAC TOPMed gnomAD
rs1347894496	373	N>S		No	TOPMed gnomAD
rs377143246 COSM1239269	374	V>M	oesophagus [Cosmic]	No	cosmic curated ESP ExAC TOPMed gnomAD
rs865815056	375	A>T		No	Ensembl
rs374830581	376	K>Q		No	ESP ExAC TOPMed gnomAD
rs1271185200	378	K>E		No	TOPMed gnomAD
rs756810490	378	K>N		No	ExAC gnomAD
rs1271185200	378	K>Q		No	TOPMed gnomAD
rs753592048	378	K>R		No	ExAC gnomAD
rs146271778	379	N>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs746313640	380	N>H		No	ExAC
rs772651455	380	N>K		No	ExAC gnomAD
rs1971610215	380	N>S		No	gnomAD
rs1364495884	381	L>R		No	gnomAD
rs375029521	382	A>V		No	ESP ExAC TOPMed gnomAD
COSM4127707	383	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	384	A>G	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1256091834	384	A>V		No	Ensembl
rs1453822736	385	Y>C		No	gnomAD
rs1356286987	385	Y>N		No	gnomAD
rs1453822736	385	Y>S		No	gnomAD
rs1971672146	387	K>E		No	TOPMed
rs765863784	387	K>N		No	ExAC TOPMed gnomAD
rs965457278	388	Q>E		No	Ensembl
rs755453083	388	Q>H		No	ExAC TOPMed gnomAD
rs1375584029	389	N>K		No	TOPMed gnomAD
rs781486330	389	N>S		No	ExAC TOPMed gnomAD
rs781486330	389	N>T		No	ExAC TOPMed gnomAD
rs1971672891	390	K>N		No	Ensembl
rs1971673153	391	Y>*		No	TOPMed
rs1262414171	391	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1971673433	393	Q>*		No	Ensembl
rs367947759	394	A>E		No	ESP ExAC TOPMed gnomAD
rs367947759	394	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs777946831	395	E>K		No	ExAC gnomAD
rs777946831	395	E>Q		No	ExAC gnomAD
rs1436818341	396	E>*		No	gnomAD
rs771037042	396	E>D		No	ExAC gnomAD
rs1436818341	396	E>K		No	gnomAD
rs1971674198	397	L>V		No	TOPMed
TCGA novel	400	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs186055996	400	E>D		No	1000Genomes ExAC TOPMed gnomAD
rs1479168335	400	E>K		No	TOPMed gnomAD
rs1300666603	401	I>S		No	TOPMed
rs768739633	401	I>V		No	ExAC gnomAD
rs200961718	402	L>P		No	ExAC TOPMed gnomAD
rs1174626750	403	H>Y		No	gnomAD
rs769761307	404	K>E		No	ExAC TOPMed gnomAD
rs769761307	404	K>Q		No	ExAC TOPMed gnomAD
rs948252684	405	E>D		No	TOPMed gnomAD
rs762581627	406	D>A		No	ExAC gnomAD
rs765850357	406	D>E		No	1000Genomes ExAC TOPMed gnomAD
COSM3535890 rs772906768	406	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs751051691	407	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1268397532	408	P>L		No	TOPMed gnomAD
rs1225300760	408	P>S		No	gnomAD
rs373157686	409	A>D		No	ESP ExAC TOPMed gnomAD
rs369384347	409	A>P		No	1000Genomes ESP ExAC TOPMed gnomAD
rs369384347 COSM1158013	409	A>T	pancreas [Cosmic]	No	cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs373157686	409	A>V		No	ESP ExAC TOPMed gnomAD
rs754022878	410	P>A		No	ExAC TOPMed gnomAD
rs375410322	411	L>F		No	ESP ExAC TOPMed gnomAD
rs779005130	411	L>P		No	ExAC gnomAD
rs1382742837	412	G>A		No	gnomAD
rs373031387	412	G>C		No	ESP ExAC TOPMed gnomAD
rs1382742837	412	G>D		No	gnomAD
rs373031387	412	G>R		No	ESP ExAC TOPMed gnomAD
rs373031387	412	G>S		No	ESP ExAC TOPMed gnomAD
rs923086524	413	A>T		No	TOPMed gnomAD
rs1599716924	414	P>S		No	Ensembl
rs1315292792	415	N>K		No	gnomAD
rs1451731131	415	N>S		No	gnomAD
rs745583423 COSM998178	416	T>I	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs1234204066	418	T>I		No	TOPMed
rs1971688437	419	A>T		No	Ensembl
rs1206218644	421	D>N		No	TOPMed gnomAD
rs199738278	422	A>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs199738278	422	A>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs764543395	422	A>V		No	ExAC gnomAD
rs1302648570	425	A>T		No	gnomAD
rs201950695	427	R>C		No	1000Genomes ExAC TOPMed gnomAD
rs369584425	427	R>H		No	ESP ExAC TOPMed gnomAD
rs369584425	427	R>L		No	ESP ExAC TOPMed gnomAD
rs369584425	427	R>P		No	ESP ExAC TOPMed gnomAD
rs201950695	427	R>S		No	1000Genomes ExAC TOPMed gnomAD
COSM2156803 rs373353596	428	R>C	Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs376739020	428	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	428	R>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1215097502	429	S>G		No	TOPMed
rs368890796	430	S>N		No	ESP TOPMed gnomAD
rs1352992667	431	S>*		No	gnomAD
rs1352992667	431	S>L		No	gnomAD
rs773673888	432	L>H		No	ExAC
rs770358528	432	L>V		No	ExAC gnomAD
rs1040897551	433	S>F		No	TOPMed gnomAD
rs771479406	433	S>P		No	ExAC gnomAD
rs1971700036	434	K>Q		No	Ensembl
rs560356289	434	K>R		No	1000Genomes ExAC TOPMed gnomAD
rs560356289	434	K>T		No	1000Genomes ExAC TOPMed gnomAD
rs767434756	435	I>S		No	ExAC gnomAD
rs373196157	436	R>C		No	1000Genomes ESP ExAC TOPMed gnomAD
rs373196157	436	R>G		No	1000Genomes ESP ExAC TOPMed gnomAD
rs375060034	436	R>H		No	TOPMed gnomAD
rs375060034	436	R>L		No	TOPMed gnomAD
rs373196157	436	R>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs750413106	437	E>G		No	ExAC TOPMed gnomAD
rs994103837	437	E>K		No	TOPMed gnomAD
rs994103837	437	E>Q		No	TOPMed gnomAD
rs1971701813	438	S>C		No	Ensembl
rs1971701507	438	S>T		No	Ensembl
rs758179169	439	I>V		No	ExAC TOPMed gnomAD
rs779895784	440	R>G		No	ExAC gnomAD
rs896034965	440	R>K		No	TOPMed gnomAD
rs896034965	440	R>T		No	TOPMed gnomAD
rs369131208	441	R>*		No	ExAC TOPMed gnomAD
rs754674282	441	R>L		No	ExAC TOPMed gnomAD
rs754674282	441	R>Q		No	ExAC TOPMed gnomAD
rs373548688	442	G>E		No	TOPMed gnomAD
rs1295345079	442	G>R		No	gnomAD
rs373548688	442	G>V		No	TOPMed gnomAD
rs569089733	443	S>I		No	1000Genomes ExAC TOPMed gnomAD
rs747727725	443	S>R		No	ExAC gnomAD
rs1568527896	443	S>R		No	TOPMed
rs569089733	443	S>T		No	1000Genomes ExAC TOPMed gnomAD
rs749876174	444	E>A		No	ExAC gnomAD
rs749876174	444	E>G		No	ExAC gnomAD
rs778409149	444	E>K		No	ExAC TOPMed gnomAD
rs2123206825	445	K>*		No	Ensembl
rs1023411331	445	K>N		No	Ensembl
rs1294836598	448	S>*		No	TOPMed gnomAD
rs1971703888	448	S>*		No	Ensembl
rs759624982	448	S>F		No	ExAC TOPMed gnomAD
rs531834422	449	R>G		No	1000Genomes ExAC TOPMed gnomAD
rs377547718	449	R>P		No	ESP ExAC TOPMed gnomAD
rs377547718	449	R>Q		No	ESP ExAC TOPMed gnomAD
rs531834422	449	R>W		No	1000Genomes ExAC TOPMed gnomAD
rs1384285725	450	L>I		No	TOPMed gnomAD
rs551647275	451	R>*		No	1000Genomes ExAC TOPMed gnomAD
rs199586485	451	R>P		No	ESP ExAC TOPMed gnomAD
rs199586485	451	R>Q		No	ESP ExAC TOPMed gnomAD
rs766105457	453	E>K		No	ExAC TOPMed gnomAD
rs751392586	454	A>E		No	ExAC TOPMed gnomAD
rs751392586	454	A>G		No	ExAC TOPMed gnomAD
rs751392586	454	A>V		No	ExAC TOPMed gnomAD
rs752348371	455	A>E		No	ExAC TOPMed gnomAD
rs752348371	455	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1359015181	456	A>P		No	TOPMed gnomAD
rs1359015181	456	A>T		No	TOPMed gnomAD
rs757858424	457	G>E		No	ExAC TOPMed gnomAD
rs749751289	457	G>R		No	ExAC gnomAD
rs746209909	458	A>E		No	ExAC TOPMed gnomAD
rs746209909	458	A>G		No	ExAC TOPMed gnomAD
rs779104723	458	A>T		No	ExAC TOPMed gnomAD
rs746209909	458	A>V		No	ExAC TOPMed gnomAD
rs1181536488	459	A>G		No	gnomAD
rs368867089	459	A>P		No	ESP ExAC TOPMed gnomAD
rs368867089	459	A>T		No	ESP ExAC TOPMed gnomAD
rs1181536488	459	A>V		No	gnomAD
rs553749571	460	G>*		No	1000Genomes ExAC TOPMed gnomAD
rs776705760	460	G>A		No	ExAC gnomAD
rs776705760	460	G>E		No	ExAC gnomAD
rs553749571	460	G>R		No	1000Genomes ExAC TOPMed gnomAD
rs776705760	460	G>V		No	ExAC gnomAD
rs1400605920	461	M>L		No	TOPMed gnomAD
rs1400605920	461	M>V		No	TOPMed gnomAD
rs750878836	462	K>E		No	ExAC gnomAD
COSM3797253	462	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1316902290	463	R>G		No	TOPMed gnomAD
rs375837304	464	A>D		No	ESP ExAC TOPMed gnomAD
rs758846386	464	A>P		No	ExAC gnomAD
rs758846386	464	A>T		No	ExAC gnomAD
rs375837304	464	A>V		No	ESP ExAC TOPMed gnomAD
rs755377157	465	M>K		No	ExAC TOPMed gnomAD
COSM3362912	465	M>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs755377157	465	M>T		No	ExAC TOPMed gnomAD
rs1338289526	466	S>*		No	gnomAD
rs1051922107	467	L>R		No	TOPMed gnomAD
rs1356642677	468	N>D		No	TOPMed gnomAD
rs1356642677	468	N>H		No	TOPMed gnomAD
COSM1581121 rs201645628	469	T>I	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs748434106	469	T>P		No	ExAC gnomAD
rs771930054	471	N>K		No	ExAC gnomAD
rs760521701	472	V>G		No	ExAC gnomAD
COSM1212565 rs371326680	472	V>M	large_intestine [Cosmic]	No	cosmic curated ESP ExAC TOPMed gnomAD
rs1391316277	473	D>N		No	gnomAD
rs1391316277	473	D>Y		No	gnomAD
rs1971734744	474	A>P		No	TOPMed
rs1368360427	474	A>V		No	TOPMed gnomAD
rs2123210502	475	P>A		No	Ensembl
rs376661134	477	A>V		No	ESP ExAC TOPMed gnomAD
rs968233794	478	P>L		No	Ensembl
rs1304066970	478	P>S		No	TOPMed gnomAD
rs1971735429	479	G>E		No	TOPMed
rs1241996383	480	T>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
COSM4079334	481	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs201136879	481	Q>P		No	1000Genomes ExAC TOPMed gnomAD
rs757277251	482	F>Y		No	ExAC
rs1251138166	485	W>C		No	gnomAD
rs746886024	486	H>P		No	ExAC gnomAD
rs754989575	486	H>Q		No	ExAC gnomAD
rs1386540605	486	H>Y		No	TOPMed gnomAD
rs201873145	487	L>M		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1971760383	487	L>R		No	TOPMed
rs772729989	488	D>E		No	ExAC TOPMed gnomAD
rs201952145	488	D>H		No	Ensembl
rs1176527411	488	D>V		No	gnomAD
rs1460173030	489	K>R		No	TOPMed gnomAD
rs1334939451	490	A>S		No	TOPMed gnomAD
rs1334939451	490	A>T		No	TOPMed gnomAD
rs1174299183	490	A>V		No	TOPMed
rs1167631041	491	P>H		No	gnomAD
rs1167631041	491	P>R		No	gnomAD
rs904013464	491	P>S		No	gnomAD
rs201702505	492	R>L		No	ESP ExAC TOPMed gnomAD
rs201702505	492	R>Q		No	ESP ExAC TOPMed gnomAD
rs200617999	492	R>W		No	1000Genomes ESP ExAC TOPMed gnomAD
rs545160779	493	T>A		No	1000Genomes ExAC TOPMed
rs545160779	493	T>S		No	1000Genomes ExAC TOPMed
rs760932431	494	L>F		No	ExAC TOPMed gnomAD
rs565460302	495	S>G		No	1000Genomes ExAC gnomAD
rs373906614	495	S>R		No	ESP ExAC TOPMed gnomAD
rs1314355426	495	S>T		No	gnomAD
rs1176796341	497	S>G		No	Ensembl
TCGA novel	497	S>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs765360053	497	S>R		No	ExAC gnomAD
rs575904720	498	T>I		No	TOPMed gnomAD
rs1342939642	498	T>P		No	gnomAD
rs1308461192	499	Q>*		No	TOPMed
rs1244840977	499	Q>P		No	TOPMed gnomAD
rs1971763817	500	D>A		No	TOPMed
rs750562902	500	D>H		No	ExAC gnomAD
rs780972785	502	S>N		No	ExAC gnomAD
rs201564801	502	S>R		No	1000Genomes ExAC gnomAD
rs1167566217	503	P>A		No	gnomAD
rs1390465451	503	P>L		No	gnomAD
rs1167566217	503	P>T		No	gnomAD
rs561464436	504	H>D		No	1000Genomes TOPMed gnomAD
rs561464436	504	H>N		No	1000Genomes TOPMed gnomAD
rs1971764586	504	H>P		No	TOPMed
rs565599377	504	H>Q		No	1000Genomes ExAC TOPMed gnomAD
rs561464436	504	H>Y		No	1000Genomes TOPMed gnomAD
TCGA novel	505	H>K	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with Q6P597

4 regional properties for Q6P597

Type	Name	Position	InterPro Accession
repeat	Tetratricopeptide repeat	249 - 282	IPR019734-1
repeat	Tetratricopeptide repeat	291 - 324	IPR019734-2
repeat	Tetratricopeptide repeat	333 - 366	IPR019734-3
repeat	Tetratricopeptide repeat	375 - 408	IPR019734-4

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm, cytoskeleton Mitochondrion	In elongating spermatid tail midpiece, localized in outer dense fibers (ODFs) and associates with mitochondria Also localizes to the manchette in elongating spermatids
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
ciliary rootlet	A cytoskeleton-like structure, originating from the basal body at the proximal end of a cilium, and extending proximally toward the cell nucleus. Rootlets are typically 80-100 nm in diameter and contain cross striae distributed at regular intervals of approximately 55-70 nm.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
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.
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.
motile cilium	A cilium which may have a variable arrangement of axonemal microtubules and also contains molecular motors. It may beat with a whip-like pattern that promotes cell motility or transport of fluids and other cells across a cell surface, such as on epithelial cells that line the lumenal ducts of various tissues; or they may display a distinct twirling motion that directs fluid flow asymmetrically across the cellular surface to affect asymmetric body plan organization. Motile cilia can be found in single as well as multiple copies per cell.
neuron projection	A prolongation or process extending from a nerve cell, e.g. an axon or dendrite.

2 GO annotations of molecular function

Name	Definition
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.
microtubule binding	Binding to a microtubule, a filament composed of tubulin monomers.

5 GO annotations of biological process

Name	Definition
axo-dendritic transport	The directed movement of organelles or molecules along microtubules in neuron projections.
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.
sperm mitochondrial sheath assembly	The assembly and organization of the sperm mitochondrial sheath, the tightly packed helical sheath of ATP-producing mitochondria restricted to the midpiece of the sperm flagellum.
spermatid development	The process whose specific outcome is the progression of a spermatid over time, from its formation to the mature structure.
spermatogenesis	The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa.

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
Q9H0B6	KLC2	Kinesin light chain 2	Homo sapiens (Human)	SS
Q9NSK0	KLC4	Kinesin light chain 4	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
O88448	Klc2	Kinesin light chain 2	Mus musculus (Mouse)	EV
Q91W40	Klc3	Kinesin light chain 3	Mus musculus (Mouse)	SS
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
MSVQVAAPGS	AGLGPERLSP	EELVRQTRQV	VQGLEALRAE	HHGLAGHLAE	ALAGQGPAAG
70	80	90	100	110	120
LEMLEEKQQV	VSHSLEAIEL	GLGEAQVLLA	LSAHVGALEA	EKQRLRSQAR	RLAQENVWLR
130	140	150	160	170	180
EELEETQRRL	RASEESVAQL	EEEKRHLEFL	GQLRQYDPPA	ESQQSESPPR	RDSLASLFPS
190	200	210	220	230	240
EEEERKGPEA	AGAAAAQQGG	YEIPARLRTL	HNLVIQYAGQ	GRYEVAVPLC	RQALEDLERS
250	260	270	280	290	300
SGHCHPDVAT	MLNILALVYR	DQNKYKEATD	LLHDALQIRE	QTLGPEHPAV	AATLNNLAVL
310	320	330	340	350	360
YGKRGRYREA	EPLCQRALEI	REKVLGADHP	DVAKQLNNLA	LLCQNQGKFE	DVERHYARAL
370	380	390	400	410	420
SIYEALGGPH	DPNVAKTKNN	LASAYLKQNK	YQQAEELYKE	ILHKEDLPAP	LGAPNTGTAG
430	440	450	460	470	480
DAEQALRRSS	SLSKIRESIR	RGSEKLVSRL	RGEAAAGAAG	MKRAMSLNTL	NVDAPRAPGT
490	500
QFPSWHLDKA	PRTLSASTQD	LSPH