AiPD: Autoinhibited Protein Database

O60282

Gene name	KIF5C (KIAA0531, NKHC2)
Protein name	Kinesin heavy chain isoform 5C
Names	Kinesin heavy chain neuron-specific 2, Kinesin-1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:3800
EC number
Protein Class	CENTROMERE PROTEIN E (PTHR47968)

Descriptions

Autoinhibitory domains (AIDs)

Target domain	6-335 (Kinesin motor domain)
Relief mechanism	Partner binding
Assay	Deletion assay, Mutagenesis experiment

AID

916-928 (tail)

Target domain

6-335 (Kinesin motor domain)

Relief mechanism

Partner binding (Cargo-adapter binding)

Assay

Deletion assay, Mutagenesis experiment

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

Chiba K et al. (2022) "Synergistic autoinhibition and activation mechanisms control kinesin-1 motor activity", Cell reports, 39, 110900

Autoinhibited structure

Activated structure

1 structures for O60282

Entry ID	Method	Resolution	Chain	Position	Source
AF-O60282-F1	Predicted				AlphaFoldDB

542 variants for O60282

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA250283 rs587777570 RCV000254976 RCV000128852 VAR_069389	237	E>K	Complex cortical dysplasia with other brain malformations 2 Variant assessed as Somatic; impact. CDCBM2; the mutation results in a significant decrease of excitatory post-synaptic currents when expressed in cultured primary hippocampal neurons; decreased localization to distal regions of dendrites; accumulates in dendrite cell body [ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP
rs587777035 CA144770 VAR_070574 RCV000055625	237	E>V	Complex cortical dysplasia with other brain malformations 2 CDCBM2; the mutant protein has a complete loss of ATP hydrolysis activity; colocalizes with microtubules throughout the cell but does not appear as puncta or accumulates in cortical clusters as does the wild-type protein [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000790846 rs1574791491 CA348726314	340	E>K	Complex cortical dysplasia with other brain malformations 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA348731304 rs1574802637 RCV000791017	397	P>R	Complex cortical dysplasia with other brain malformations 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA348742367 rs1574818948 RCV000790845	622	S>G	Complex cortical dysplasia with other brain malformations 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs368233902 CA1901132	2	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA348865980 rs1488632266	3	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA58270925 rs919886799	4	P>S		No	ClinGen TOPMed gnomAD
rs6736150 CA58270926	5	A>T		No	ClinGen Ensembl
rs866329566 CA58270928	8	S>N		No	ClinGen Ensembl
TCGA novel	9	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348866025 rs1279855265	10	K>T		No	ClinGen TOPMed
CA1901133 rs754239937	13	C>S		No	ClinGen ExAC gnomAD
CA58270929 rs74497079	14	R>L		No	ClinGen Ensembl
TCGA novel	17	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1901135 rs778816491	19	N>S		No	ClinGen ExAC gnomAD
CA348866088 rs1400743526	20	E>K		No	ClinGen gnomAD
rs1574678280 CA348866099	21	A>E		No	ClinGen Ensembl
TCGA novel	23	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1297224359 CA348866111	23	I>V		No	ClinGen gnomAD
TCGA novel	25	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1299666658 CA348866132	26	G>E		No	ClinGen TOPMed
rs916435347 CA58270931	27	D>H		No	ClinGen gnomAD
rs1412603893 CA348866142	28	K>Q		No	ClinGen TOPMed
TCGA novel	29	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201371161 CA1901138	30	I>V		No	ClinGen ExAC TOPMed gnomAD
rs747945685 CA1901139	31	P>L		No	ClinGen ExAC gnomAD
CA1901140 rs769523237	32	K>R		No	ClinGen ExAC gnomAD
CA348866193 rs773226911	35	G>C		No	ClinGen ExAC TOPMed gnomAD
CA1901141 rs773226911	35	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1190316056 CA348866223	39	V>A		No	ClinGen gnomAD
CA348725173 rs1376768639	43	Q>*		No	ClinGen gnomAD
CA348725242 rs1178770487	47	Y>H		No	ClinGen TOPMed
rs367955770 CA1901166	51	R>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA348725338 rs1374804111	52	V>L		No	ClinGen TOPMed gnomAD
rs1236521413 CA348725359	54	P>H		No	ClinGen TOPMed gnomAD
CA348725384 rs1283997440	56	N>D		No	ClinGen TOPMed
CA348725393 rs1239485346	56	N>S		No	ClinGen TOPMed
CA1901168 rs769102533	57	T>A		No	ClinGen ExAC gnomAD
CA57576842 rs749228157	57	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1219764491 CA348725433	58	T>N		No	ClinGen gnomAD
rs1231325550 CA348725471	60	E>G		No	ClinGen TOPMed gnomAD
CA1901169 rs776834479	61	Q>L		No	ClinGen ExAC gnomAD
rs765671059 CA1901171	64	N>S		No	ClinGen ExAC TOPMed gnomAD
rs955655553 CA57576860	65	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA348725610 rs1236239517	67	A>V		No	ClinGen TOPMed gnomAD
CA348726906 rs1336945201	80	G>R		No	ClinGen gnomAD
CA348726927 rs1222200321	81	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA348727022 rs1215264639	89	S>A		No	ClinGen TOPMed gnomAD
rs1553463778 RCV000599315	90	S>missing		No	ClinVar dbSNP
CA57581712 rs376140633	97	E>V		No	ClinGen ESP TOPMed
CA57588533 rs773279411	101	H>R		No	ClinGen Ensembl
CA1901195 rs767636994	103	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1321964202 CA348728466	104	Q>H		No	ClinGen gnomAD
CA348728464 rs1482596684	104	Q>L		No	ClinGen gnomAD
TCGA novel	104	Q>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752904856 CA1901196	106	M>V		No	ClinGen ExAC gnomAD
CA348728591 COSM1007252 rs1439125187	111	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs750422140 CA1901199	114	H>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	116	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1901200 rs758384229	116	I>V		No	ClinGen ExAC gnomAD
CA348728743 rs1448922008	119	H>R		No	ClinGen gnomAD
CA348728801 rs1558905906	122	S>C		No	ClinGen Ensembl
CA1901203 rs754456238	125	E>G		No	ClinGen ExAC gnomAD
rs1237261023 CA348728899	129	F>I		No	ClinGen gnomAD
rs747801298 CA1901205	132	K>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	133	V>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	150	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775613404 CA1901232	150	S>T		No	ClinGen ExAC gnomAD
TCGA novel	151	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348729931 rs1289641447	151	K>Q		No	ClinGen gnomAD
CA57591276 rs923483326	151	K>R		No	ClinGen TOPMed
CA348729956 rs1558908097	152	T>S		No	ClinGen Ensembl
CA1901236 rs762866665	156	V>L		No	ClinGen ExAC gnomAD
rs1426476246 CA348730035	157	H>P		No	ClinGen gnomAD
rs1335807210 CA348730044	157	H>Q		No	ClinGen TOPMed
rs267598915 CA57591297	158	E>K		No	ClinGen Ensembl
CA1901238 rs751495278	159	D>E		No	ClinGen ExAC TOPMed gnomAD
CA1901237 rs766239754	159	D>N		No	ClinGen ExAC gnomAD
CA348730151 rs1574771539	163	V>I		No	ClinGen Ensembl
rs766995170 CA1901240	164	P>L		No	ClinGen ExAC TOPMed gnomAD
CA348730201 rs1419941035	166	V>L		No	ClinGen gnomAD
TCGA novel	167	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753992816 CA57591667	168	G>A		No	ClinGen Ensembl
CA1901259 rs373894913	175	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1201721590 CA348730620	177	P>S		No	ClinGen gnomAD
rs1307469172 CA348730779	181	M>V		No	ClinGen TOPMed
CA57591706 rs764908739	184	I>V		No	ClinGen Ensembl
rs1237886855 CA348731027	189	A>T		No	ClinGen TOPMed gnomAD
CA348731091 rs1247797125	191	R>Q		No	ClinGen gnomAD
rs1005104685 CA57591722	193	V>M		No	ClinGen TOPMed gnomAD
TCGA novel	202	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776105336 CA1901278	205	S>G		No	ClinGen ExAC gnomAD
TCGA novel	207	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348732299 rs1352866316	208	I>V		No	ClinGen TOPMed gnomAD
CA57593783 rs952379331	209	F>C		No	ClinGen TOPMed gnomAD
TCGA novel	210	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs927372060 CA57593786	211	I>V		No	ClinGen Ensembl
CA348732456 rs1340827215	218	V>I		No	ClinGen gnomAD
CA348732459 rs1340827215	218	V>L		No	ClinGen gnomAD
TCGA novel	221	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752163955 CA348732549	223	K>N		No	ClinGen ExAC TOPMed gnomAD
rs767279334 CA57593819	224	L>V		No	ClinGen Ensembl
TCGA novel	238	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	244	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1414769940 CA348734027	245	E>K		No	ClinGen gnomAD
TCGA novel	245	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348734070 rs1467114015 COSM261678	251	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA348734139 rs1331505548	256	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	259	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1276203097 CA348734205	261	A>V		No	ClinGen gnomAD
TCGA novel	263	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348734251 rs1322738968	266	I>M		No	ClinGen TOPMed
CA1901316 rs377683650	268	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA57596092 rs371476342	270	A>T		No	ClinGen gnomAD
TCGA novel	279	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA57596356 rs572713862	281	D>Y		No	ClinGen 1000Genomes
TCGA novel	286	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	288	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	290	D>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1490590663 CA348734469	292	L>V		No	ClinGen TOPMed gnomAD
rs867665962 CA57596365	294	G>E		No	ClinGen Ensembl
rs1489125332 CA348734523	300	I>V		No	ClinGen TOPMed gnomAD
rs546435752 CA1901336	301	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	305	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1901337 rs759235556	306	P>S		No	ClinGen ExAC gnomAD
CA348734569 rs1453473810	307	S>A		No	ClinGen gnomAD
rs1164555167 CA348734580	309	F>V		No	ClinGen gnomAD
CA348734622 rs1574779623	314	T>I		No	ClinGen Ensembl
rs1300864425 CA348734638	317	T>A		No	ClinGen gnomAD
TCGA novel	324	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348726138 rs1384624822	326	T>I		No	ClinGen gnomAD
rs1381027492 CA348726146	327	I>V		No	ClinGen gnomAD
CA1901354 rs745572490	328	K>N		No	ClinGen ExAC gnomAD
CA348726214 rs1411189194	332	S>F		No	ClinGen gnomAD
TCGA novel	336	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA57567467 rs868504262	341	E>K		No	ClinGen Ensembl
CA1901356 rs775140734	343	K>Q		No	ClinGen ExAC gnomAD
rs1411919628 CA348726378	343	K>T		No	ClinGen TOPMed
rs768581963 CA57567470	344	K>R		No	ClinGen Ensembl
rs1045636129 CA57567477	347	E>G		No	ClinGen TOPMed
TCGA novel	347	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	349	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	351	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348726573 rs1303293908	354	K>N		No	ClinGen gnomAD
rs769012523 CA1901358	354	K>Q		No	ClinGen ExAC gnomAD
rs748645797 CA57567484	354	K>R		No	ClinGen Ensembl
rs777031953 CA1901359	356	L>W		No	ClinGen ExAC gnomAD
CA348726623 rs1263736610	358	N>S		No	ClinGen gnomAD
CA348726659 rs1239451505	361	Q>P		No	ClinGen gnomAD
CA1901364 rs766524007	362	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA1901365 rs751760706	365	M>T		No	ClinGen ExAC gnomAD
TCGA novel	368	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348726760 rs1233887473	369	R>G		No	ClinGen TOPMed
rs1398114549 CA348726765	369	R>K		No	ClinGen TOPMed gnomAD
rs1226110645 CA348730244	373	G>E		No	ClinGen gnomAD
TCGA novel	374	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	375	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1901382 rs771006704	377	P>S		No	ClinGen ExAC gnomAD
rs1242446811 CA348730411	378	E>G		No	ClinGen TOPMed
CA348730386 rs1489265808	378	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	379	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774480335 CA1901383	379	D>V		No	ClinGen ExAC gnomAD
CA348730531 rs1270094837	380	E>G		No	ClinGen gnomAD
rs1197689291 CA348730574	381	Q>H		No	ClinGen gnomAD
CA1901384 rs759785326	381	Q>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	384	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	388	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753678986 CA1901386	389	N>S		No	ClinGen ExAC gnomAD
CA1901387 rs761630242	396	T>N		No	ClinGen ExAC gnomAD
CA57576747 rs200643158	397	P>A		No	ClinGen Ensembl
rs1290380797 CA348731369	399	I>V		No	ClinGen gnomAD
rs1381521419 CA348731422	401	N>I		No	ClinGen gnomAD
rs1360928882 CA348731456	403	A>T		No	ClinGen TOPMed gnomAD
rs751217297 CA1901392	403	A>V		No	ClinGen ExAC gnomAD
rs1447831565 CA348731478	404	P>L		No	ClinGen TOPMed
TCGA novel	405	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1901393 rs754656278	406	V>I		No	ClinGen ExAC gnomAD
rs1402486886 CA348731507	407	A>V		No	ClinGen TOPMed
rs1220812331 CA348731526	409	I>L		No	ClinGen gnomAD
CA1901395 rs748526351	411	T>I		No	ClinGen ExAC gnomAD
rs886104487 CA57576803	412	E>K		No	ClinGen Ensembl
CA1901397 rs748248274	415	E>D		No	ClinGen ExAC TOPMed gnomAD
rs770969075 CA1901399	418	D>N		No	ClinGen ExAC gnomAD
CA1901400 rs770969075	418	D>Y		No	ClinGen ExAC gnomAD
TCGA novel	419	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1901402 rs759741049	419	E>K		No	ClinGen ExAC
TCGA novel	420	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1438273740 CA348731716	422	S>P		No	ClinGen TOPMed
rs1422970995 CA348731735	423	S>R		No	ClinGen gnomAD
rs1345498134 CA348731774	426	R>I		No	ClinGen gnomAD
CA348731814 rs1286999670	429	D>Y		No	ClinGen gnomAD
CA348731827 rs1384882673	430	D>N		No	ClinGen gnomAD
rs1452788165 CA348731853	431	K>R		No	ClinGen gnomAD
CA348733529 rs1440722508	432	D>Y		No	ClinGen gnomAD
rs1476084619 CA348733641	436	N>D		No	ClinGen TOPMed
rs773044889 CA1901427	438	Q>K		No	ClinGen ExAC gnomAD
rs774107806 CA1901430	445	L>V		No	ClinGen ExAC gnomAD
COSM441208 CA1901432 rs766987378	451	D>H	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA1901433 rs752398746	453	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1264988179 CA348735318	457	A>V		No	ClinGen gnomAD
CA1901456 rs760114111	458	S>F		No	ClinGen ExAC gnomAD
rs950017082 CA57583621	459	T>I		No	ClinGen TOPMed
TCGA novel	460	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	460	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1574810468 CA348735355	460	R>K		No	ClinGen Ensembl
rs1241040482 CA348735376	461	R>G		No	ClinGen gnomAD
CA348735378 rs1447187245	461	R>K		No	ClinGen gnomAD
CA348735407 rs1158069960	462	D>G		No	ClinGen TOPMed
TCGA novel	462	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1045803207 CA57583623	466	I>L		No	ClinGen TOPMed
TCGA novel	468	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753378799 CA1901458	469	E>K		No	ClinGen ExAC gnomAD
CA348735671 rs1382630193	471	T>A		No	ClinGen TOPMed
CA348735702 rs1432953705	472	R>H		No	ClinGen TOPMed
rs1437370237 CA348735757	474	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA348735831 rs1163350552	477	N>S		No	ClinGen gnomAD
rs1402987389 CA348735873	479	A>V		No	ClinGen gnomAD
CA348735898 rs1319506360	481	K>R		No	ClinGen gnomAD
CA1901460 rs765486860	482	D>G		No	ClinGen ExAC gnomAD
CA57583683 rs949930083	482	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs765486860 CA348735915	482	D>V		No	ClinGen ExAC gnomAD
CA57583682 rs949930083	482	D>Y		No	ClinGen Ensembl
TCGA novel	486	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	486	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	487	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758958743 CA1901462	489	Q>*		No	ClinGen ExAC gnomAD
TCGA novel	493	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	499	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1901465 rs755061518	501	K>R		No	ClinGen ExAC gnomAD
rs773921514 CA57583728	504	E>A		No	ClinGen Ensembl
CA57583722 rs868340855	504	E>K		No	ClinGen Ensembl
rs1489235170 CA348736563	508	K>E		No	ClinGen TOPMed
CA1901468 rs146933458	509	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA348736587 rs146933458	509	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	510	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745875480 CA1901470	510	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs778563315 CA1901469	510	R>W		No	ClinGen ExAC TOPMed
rs772004983 CA1901471	511	A>T		No	ClinGen ExAC gnomAD
rs775345179 CA1901472	512	N>K		No	ClinGen ExAC gnomAD
CA348736731 rs1471391471	517	D>E		No	ClinGen gnomAD
CA348736743 rs1159480870	518	E>*		No	ClinGen gnomAD
CA1901474 rs768007396	523	T>M		No	ClinGen ExAC TOPMed gnomAD
CA1901489 rs771802615	525	T>A		No	ClinGen ExAC gnomAD
CA348737039 rs746915227	526	L>V		No	ClinGen ExAC gnomAD
rs768260603 CA1901492	527	T>R		No	ClinGen ExAC gnomAD
rs1368404172 CA348737091	529	T>S		No	ClinGen TOPMed
CA348737119 rs1230523505	531	R>G		No	ClinGen gnomAD
rs1252542788 CA348737129	531	R>T		No	ClinGen gnomAD
rs775991688 CA1901493	532	E>D		No	ClinGen ExAC TOPMed gnomAD
CA1901494 rs761592190	533	L>V		No	ClinGen ExAC gnomAD
rs1558931963 CA348737183	534	S>T		No	ClinGen Ensembl
rs769334227 CA1901496	536	L>V		No	ClinGen ExAC gnomAD
rs1433098321 CA348737269	537	Q>H		No	ClinGen TOPMed gnomAD
CA348737265 rs1270320324	537	Q>L		No	ClinGen gnomAD
CA1901497 rs536220608	538	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA348737294 rs1244588801	539	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs763444662 CA1901498	541	N>K		No	ClinGen ExAC gnomAD
CA348737433 rs1168140269	545	K>E		No	ClinGen TOPMed gnomAD
rs867143565 CA57585511	549	E>*		No	ClinGen Ensembl
TCGA novel	559	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs970309381 CA57585534	560	E>*		No	ClinGen Ensembl
TCGA novel	561	I>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1303531672 CA348737891	561	I>M		No	ClinGen TOPMed gnomAD
CA348737902 rs1366898803	562	G>D		No	ClinGen gnomAD
CA348737903 rs1366898803	562	G>V		No	ClinGen gnomAD
CA348737911 rs1374974407	563	G>R		No	ClinGen gnomAD
rs1354099219 CA348737998	565	I>T		No	ClinGen TOPMed
rs1297108227 CA348738036	567	T>I		No	ClinGen gnomAD
CA1901502 rs767707946	568	N>D		No	ClinGen ExAC gnomAD
CA348738054 rs1272087424	568	N>S		No	ClinGen gnomAD
rs982064376 CA57585585	570	V>M		No	ClinGen Ensembl
CA348741100 rs1446678266	573	L>S		No	ClinGen TOPMed gnomAD
CA348741117 rs1237509278	574	A>G		No	ClinGen TOPMed
CA348741107 rs1184400538	574	A>T		No	ClinGen gnomAD
rs1412829038 CA348741135	575	D>E		No	ClinGen gnomAD
CA348741121 rs1375440688	575	D>N		No	ClinGen TOPMed
CA1901520 rs767925704	586	M>V		No	ClinGen ExAC gnomAD
CA348741335 rs1448898502	587	A>V		No	ClinGen TOPMed
CA1901521 rs776019867	588	R>C		No	ClinGen ExAC gnomAD
rs1043187910 CA57589912	590	Y>F		No	ClinGen TOPMed
rs573212266 CA1901523	591	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs573212266 CA57589920	591	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1901525 rs202156950	594	M>K		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000430007 CA1901524 rs202156950	594	M>T		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1283282226 CA348741621	596	S>L		No	ClinGen gnomAD
rs540532785 CA1901527	604	R>C		No	ClinGen 1000Genomes ExAC gnomAD
rs754743758 CA1901528	604	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM3961267 CA1901526 rs540532785	604	R>S	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA348741932 rs1157013200	606	K>N		No	ClinGen TOPMed
rs1456219813 CA348741943	607	Q>*		No	ClinGen gnomAD
rs1419347185 CA348742002	607	Q>H		No	ClinGen TOPMed
rs375871645 CA1901530	609	E>K		No	ClinGen ESP ExAC gnomAD
CA348742078 rs1453090952	610	S>G		No	ClinGen TOPMed
CA348742082 rs755734035	610	S>N		No	ClinGen ExAC TOPMed gnomAD
rs755734035 CA1901531	610	S>T		No	ClinGen ExAC TOPMed gnomAD
rs532360681 CA348742094	611	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs532360681 CA1901533	611	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
COSM3836964 CA1901534 rs770716612	611	A>V	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA1901537 rs772439288	613	M>I		No	ClinGen ExAC gnomAD
rs746243601 CA348742150	613	M>L		No	ClinGen ExAC TOPMed gnomAD
rs746243601 CA1901536	613	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1352615880 CA348742219	615	S>C		No	ClinGen TOPMed
rs1156793532 CA348742227	616	N>H		No	ClinGen gnomAD
rs761218289 CA1901539	618	K>R		No	ClinGen ExAC gnomAD
rs943910102 CA57589971	619	M>T		No	ClinGen Ensembl
rs764212878 CA1901540	619	M>V		No	ClinGen ExAC gnomAD
CA348742363 rs1357129507	621	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs562279662 CA1901542	623	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs562279662 CA1901543	623	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1901545 rs754771513	624	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1901544 rs750607673	624	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1326243196 CA348742426	625	E>G		No	ClinGen gnomAD
CA1901546 rs767323815	625	E>K		No	ClinGen ExAC gnomAD
TCGA novel	625	E>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	626	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1901547 rs376768573	626	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA57590018 rs918383620	627	A>T		No	ClinGen gnomAD
rs1206840063 CA348742487	628	A>D		No	ClinGen gnomAD
CA1901548 rs756117516	628	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	636	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs369601694 CA57591331	636	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA57591330 rs966833911	636	H>R		No	ClinGen Ensembl
rs764153963 CA1901571	637	E>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	639	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	641	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1406043375 CA348743352	645	D>G		No	ClinGen TOPMed
CA348743375 rs1364754230	647	M>L		No	ClinGen gnomAD
rs1316941983 CA348743430	650	M>V		No	ClinGen TOPMed gnomAD
rs373791386 CA1901573	654	R>T		No	ClinGen ESP ExAC gnomAD
rs954203955 CA57591340	655	R>K		No	ClinGen TOPMed
rs1287693393 CA348743535	656	Q>R		No	ClinGen TOPMed gnomAD
rs1246805658 CA348743565	658	E>D		No	ClinGen TOPMed gnomAD
CA348743569 rs1447315536	659	E>K		No	ClinGen gnomAD
CA348743633 rs1184999791	663	S>A		No	ClinGen TOPMed gnomAD
CA348743639 rs1368660848	663	S>L		No	ClinGen TOPMed gnomAD
rs376991028 CA57591352	665	S>R		No	ClinGen 1000Genomes ESP TOPMed gnomAD
CA348743677 rs1402890982 COSM3836966	666	E>K	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA348743720 rs1387953609	670	K>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA1901576 rs758062004	671	L>F		No	ClinGen ExAC gnomAD
rs779504544 CA1901577	672	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs747385174 CA1901578	673	A>G		No	ClinGen ExAC TOPMed gnomAD
CA348744078 rs1343855404	675	E>G		No	ClinGen TOPMed gnomAD
rs1198333572 CA348744093	676	K>R		No	ClinGen gnomAD
rs1254541425 CA348744114 COSM265716	677	M>I	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA348744152 rs749950408	679	E>D		No	ClinGen ExAC gnomAD
COSM3567491 CA1901592 rs764718591	679	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1442872040 CA348744212	683	Q>H		No	ClinGen TOPMed
CA348744306 rs1421275680	688	E>K		No	ClinGen TOPMed gnomAD
CA1901595 rs766078338	691	T>M		No	ClinGen ExAC TOPMed gnomAD
rs755385452 CA1901597	692	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs370578696 CA1901598	698	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1223209744 CA348746000	702	A>V		No	ClinGen TOPMed
CA348746024 rs1311101971	704	E>K		No	ClinGen TOPMed
rs368189037 CA1901627	705	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1208156700 CA348746112	707	M>I		No	ClinGen gnomAD
CA57593588 rs572816673	707	M>L		No	ClinGen Ensembl
rs1484354673 CA348746158	709	S>N		No	ClinGen gnomAD
rs865826966 CA57593595	709	S>R		No	ClinGen Ensembl
CA57593599 rs913243255	712	E>K		No	ClinGen TOPMed
CA57593608 rs370835547	713	A>S		No	ClinGen ESP TOPMed gnomAD
rs867968690 CA57593614	717	Q>H		No	ClinGen Ensembl
CA348746370 rs1293372354	719	S>T		No	ClinGen gnomAD
rs1326890055 CA348746411	721	L>I		No	ClinGen TOPMed
CA57593621 rs1025437500	721	L>R		No	ClinGen Ensembl
TCGA novel	722	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1161343221 CA348746464	723	D>G		No	ClinGen gnomAD
COSM1007284 CA348746478 rs1456311400	724	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1156299673 CA348746521	725	I>T		No	ClinGen gnomAD
rs868395541 CA57593641	727	E>D		No	ClinGen Ensembl
rs1558940260 CA348746696	732	I>S		No	ClinGen Ensembl
rs1558940260 CA348746699	732	I>T		No	ClinGen Ensembl
CA348746737 rs1016290527	734	E>D		No	ClinGen TOPMed gnomAD
CA348746734 rs1413300985	734	E>G		No	ClinGen gnomAD
CA57593659 rs980042486	736	R>Q		No	ClinGen TOPMed gnomAD
rs773857492 CA1901631	736	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1901646 rs749045025	738	L>S		No	ClinGen ExAC TOPMed gnomAD
rs770870633 CA1901647	740	Q>R		No	ClinGen ExAC gnomAD
CA57594761 rs918501148	742	L>V		No	ClinGen TOPMed
rs745715427 CA57594766	743	Q>H		No	ClinGen TOPMed
rs1352115135 CA348747104	743	Q>K		No	ClinGen gnomAD
CA348747164 rs1437349282	745	E>D		No	ClinGen gnomAD
TCGA novel	747	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs185382107 CA57594782	750	S>G		No	ClinGen 1000Genomes
rs542106054 CA1901649	750	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA348747312 rs1341254622	753	Y>H		No	ClinGen gnomAD
CA1901651 rs775265928	754	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1292026609 CA348747351	755	K>Q		No	ClinGen gnomAD
rs1220204237 CA348747384	757	K>E		No	ClinGen gnomAD
CA1901653 rs560626833	758	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA57594800 rs867775865	761	Q>K		No	ClinGen gnomAD
rs1239611510 CA348747501	762	E>D		No	ClinGen TOPMed
COSM3836968 rs1389148216 CA348747561	765	M>I	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs894827194 CA348747556	765	M>K		No	ClinGen gnomAD
rs894827194 CA57594812	765	M>R		No	ClinGen gnomAD
rs1377967700 CA348747581	766	K>R		No	ClinGen TOPMed
CA1901654 rs754154196	769	K>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	770	L>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA57594975 rs940317750	774	N>D		No	ClinGen Ensembl
rs746458742 CA1901669	774	N>S		No	ClinGen ExAC gnomAD
CA1901670 rs768203756	775	D>N		No	ClinGen ExAC TOPMed gnomAD
rs776295960 CA1901671	776	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1244052992 CA348747933	777	R>G		No	ClinGen TOPMed
rs1159988374 CA348747940	777	R>K		No	ClinGen gnomAD
rs1388199446 CA348747958	778	E>K		No	ClinGen gnomAD
rs1208198034 CA348747992	779	Q>H		No	ClinGen TOPMed
CA1901672 rs762298472	781	R>T		No	ClinGen ExAC TOPMed gnomAD
rs1291411535 CA348748249	789	E>G		No	ClinGen gnomAD
CA348748271 rs1331114011	790	T>I		No	ClinGen TOPMed gnomAD
CA348748268 rs1331114011	790	T>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs918375830 TCGA novel CA57595009	791	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen TOPMed NCI-TCGA
CA1901688 rs758332247	793	R>G		No	ClinGen ExAC gnomAD
rs1343835123 CA348749831	795	L>V		No	ClinGen gnomAD
rs1038138760 CA57597493	797	T>A		No	ClinGen TOPMed gnomAD
rs372503515 CA1901690	799	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA348749906 rs1175953621	799	H>Y		No	ClinGen TOPMed gnomAD
CA1901691 rs768170361	800	N>S		No	ClinGen ExAC TOPMed gnomAD
CA1901692 rs776184580	802	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	803	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1901693 rs747778664	805	F>L		No	ClinGen ExAC TOPMed gnomAD
CA348750175 rs1453937333	809	L>V		No	ClinGen gnomAD
rs1171555134 CA348750191	810	T>S		No	ClinGen gnomAD
CA57597518 rs200062825	811	T>A		No	ClinGen Ensembl
rs770338912 COSM1305690 CA1901695	812	R>Q	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA1901696 rs773716901	814	K>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	816	S>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348752159 rs1306297149	817	V>A		No	ClinGen gnomAD
CA348752148 rs1295236310	817	V>M		No	ClinGen gnomAD
CA348752245 rs1266520203	819	L>F		No	ClinGen gnomAD
rs750229141 CA1901708	820	D>N		No	ClinGen ExAC gnomAD
rs140001551 CA1901709	821	N>S		No	ClinGen ESP ExAC gnomAD
CA1901711 rs746931422	822	D>N		No	ClinGen ExAC TOPMed gnomAD
CA348752399 rs1467430945	823	D>H		No	ClinGen TOPMed
TCGA novel	825	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1259353198 CA348752581	826	G>S		No	ClinGen gnomAD
rs372719113 CA57598937	827	S>N		No	ClinGen 1000Genomes ESP TOPMed
CA1901714 rs747876474	828	A>T		No	ClinGen ExAC TOPMed gnomAD
CA1901715 rs769584466	828	A>V		No	ClinGen ExAC gnomAD
CA1901716 rs777520533	829	A>D		No	ClinGen ExAC gnomAD
rs888387183 CA57598949	829	A>T		No	ClinGen TOPMed gnomAD
CA1901717 rs749702598	830	Q>R		No	ClinGen ExAC gnomAD
rs771298651 CA1901718	831	K>N		No	ClinGen ExAC gnomAD
CA1901719 RCV000443358 rs774772941	833	K>E		No	ClinGen ClinVar ExAC dbSNP gnomAD
TCGA novel	833	K>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348752820 rs1176019078	833	K>N		No	ClinGen TOPMed
rs1360368846 CA348752813	833	K>R		No	ClinGen gnomAD
CA1901720 rs760077899	835	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1263518084 CA348752959	838	E>Q		No	ClinGen gnomAD
CA1901723 rs760686359	843	Q>K		No	ClinGen ExAC gnomAD
rs1330120540 CA348753299	846	K>E		No	ClinGen gnomAD
rs1574835836 CA348755628	852	V>A		No	ClinGen Ensembl
rs1314153305 CA348755651	853	R>Q		No	ClinGen TOPMed gnomAD
rs1305217877 CA348755632	853	R>W		No	ClinGen TOPMed gnomAD
TCGA novel	854	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1044306642 CA57600462	856	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA348755800 CA57600468 rs905712500	857	D>E		No	ClinGen TOPMed
TCGA novel	858	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348755867 rs1484661116	860	C>R		No	ClinGen gnomAD
rs920144653 CA57600478	862	L>M		No	ClinGen TOPMed
CA348755970 rs1252405931	863	P>L		No	ClinGen gnomAD
CA348755998 rs1558947185	864	K>R		No	ClinGen Ensembl
rs1469238811 CA348756099	868	R>W		No	ClinGen gnomAD
rs1158796093 CA348756150	870	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA348756170 rs1458424820	871	A>G		No	ClinGen TOPMed
CA1901740 rs760772241	872	T>A		No	ClinGen ExAC gnomAD
rs768689068 CA1901741	872	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs377483994 CA1901743	873	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA57600526 rs896594423	874	E>Q		No	ClinGen Ensembl
CA348756289 rs1310431752	875	R>C		No	ClinGen TOPMed gnomAD
rs1310431752 CA348756284	875	R>S		No	ClinGen TOPMed gnomAD
CA348756305 rs1441642850	876	V>I		No	ClinGen gnomAD
rs1296469600 CA348756432	880	E>G		No	ClinGen gnomAD
rs759203784 CA1901746	882	A>T		No	ClinGen ExAC TOPMed gnomAD
CA57600542 rs1020942504	882	A>V		No	ClinGen Ensembl
CA348756599 rs1273698680	887	K>Q		No	ClinGen gnomAD
rs1210354255 CA348756607	887	K>R		No	ClinGen TOPMed
rs1488616836 CA348756682	891	M>I		No	ClinGen gnomAD
CA348756677 rs1247905100	891	M>T		No	ClinGen gnomAD
CA348756671 rs1201829836	891	M>V		No	ClinGen gnomAD
CA1901750 rs777411017	892	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs755736014 CA348756691	892	R>W	Variant assessed as Somatic; 5.19e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA348756702 rs1453038346	893	D>N		No	ClinGen gnomAD
CA348756717 rs1170867093	894	R>C		No	ClinGen gnomAD
rs1558947309 CA348756722	894	R>H		No	ClinGen Ensembl
CA1901751 rs753505074	895	K>T		No	ClinGen ExAC gnomAD
COSM1730537 rs1001093203 CA57600564	896	R>C	liver [Cosmic]	No	ClinGen cosmic curated TOPMed
rs756942747 CA1901753	896	R>H		No	ClinGen ExAC TOPMed gnomAD
CA1901752 rs756942747	896	R>L		No	ClinGen ExAC TOPMed gnomAD
CA348756820 rs1351733624	901	V>M		No	ClinGen gnomAD
COSM3296461 rs1017774533 CA57600589	903	R>C	pancreas Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA348756851 rs1017774533	903	R>G		No	ClinGen TOPMed
rs758719819 CA1901755	903	R>H		No	ClinGen ExAC gnomAD
CA1901756 rs780575283	905	K>R		No	ClinGen ExAC gnomAD
rs1270486100 CA348756891	906	E>K		No	ClinGen gnomAD
TCGA novel	909	R>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348756934 rs1291911375	909	R>Q		No	ClinGen gnomAD
CA348756930 rs1212685158	909	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs567802806 CA1901757 RCV000602956	910	A>S		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs567802806 CA348756941	910	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1682149018 RCV001091562	911	K>E		No	ClinVar dbSNP
CA348756959 rs1266051328	911	K>M		No	ClinGen Ensembl
CA348756992 rs1403500716	913	M>T		No	ClinGen TOPMed
rs1355720697 CA348757012	914	A>G		No	ClinGen TOPMed gnomAD
CA348757013 rs1355720697	914	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA1901759 rs776689328	916	R>K		No	ClinGen ExAC gnomAD
TCGA novel	916	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348757065 rs1185323854	918	H>R		No	ClinGen gnomAD
rs367571292 CA1901760	920	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs367571292 CA1901761	920	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs773265771 CA1901762	920	A>V		No	ClinGen ExAC
rs200547595	922	I>=	Variant assessed as Somatic; 0.000451 impact. [NCI-TCGA]	No	NCI-TCGA
CA348757291 rs1376000589	926	I>V		No	ClinGen gnomAD
CA57601594 RCV003114647 RCV000522168 rs867604993	927	R>C		No	ClinGen ClinVar Ensembl dbSNP
rs772057456 CA1901782	927	R>H		No	ClinGen ExAC TOPMed gnomAD
CA1901783 rs775426331	928	P>S		No	ClinGen ExAC gnomAD
rs372092875 CA1901784	929	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs375455696 CA1901786 RCV000997223	930	H>R		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs761429108 CA1901787	932	P>L		No	ClinGen ExAC TOPMed gnomAD
rs761429108 CA348757378	932	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA1901790 rs758043930	936	P>A		No	ClinGen ExAC gnomAD
COSM1007290 CA1901792 rs765950375	937	T>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA1901791 rs765950375	937	T>R		No	ClinGen ExAC gnomAD
CA1901793 rs201685014	938	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753121188 CA348757462	939	V>F		No	ClinGen ExAC TOPMed gnomAD
CA1901795 rs753121188	939	V>I		No	ClinGen ExAC TOPMed gnomAD
CA1901796 rs756273464	940	H>P		No	ClinGen ExAC TOPMed gnomAD
rs756273464 CA348757478	940	H>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1395408226 CA348757487	941	A>T		No	ClinGen gnomAD
COSM1007292 CA348757517 rs1227924385	943	R>*	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs533785428 CA1901798	943	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1901802 rs768308153	944	G>E		No	ClinGen ExAC TOPMed gnomAD
CA1901801 rs779740680 CA1901799	944	G>R		No	ClinGen ExAC TOPMed gnomAD
CA1901800 rs779740680	944	G>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	945	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1327520634 CA348757540	945	G>E		No	ClinGen gnomAD
rs776682822 CA1901803	948	S>G		No	ClinGen ExAC gnomAD
rs920883304 CA57601713	950	S>T		No	ClinGen Ensembl
CA57601716 rs267598916	952	S>F		No	ClinGen Ensembl
rs369391176 CA1901805	953	T>A		No	ClinGen ESP ExAC gnomAD
rs772603415 CA1901806	953	T>I		No	ClinGen ExAC gnomAD
rs1055992144 COSM1399875 CA57601745	955	Y>C	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA1901807 rs202039159 RCV001718841	955	Y>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD

1 associated diseases with O60282

[MIM: 615282]: Cortical dysplasia, complex, with other brain malformations 2 (CDCBM2)

A disorder of aberrant neuronal migration and disturbed axonal guidance. Clinical features include intrauterine growth retardation, fetal akinesia, seizures, microcephaly, lack of psychomotor development, and arthrogryposis. Brain imaging shows malformations of cortical development, including polymicrogyria, gyral simplification, and thin corpus callosum. {ECO:0000269|PubMed:23033978, ECO:0000269|PubMed:23603762, ECO:0000269|PubMed:24812067, ECO:0000269|PubMed:29048727}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A disorder of aberrant neuronal migration and disturbed axonal guidance. Clinical features include intrauterine growth retardation, fetal akinesia, seizures, microcephaly, lack of psychomotor development, and arthrogryposis. Brain imaging shows malformations of cortical development, including polymicrogyria, gyral simplification, and thin corpus callosum. {ECO:0000269|PubMed:23033978, ECO:0000269|PubMed:23603762, ECO:0000269|PubMed:24812067, ECO:0000269|PubMed:29048727}. Note=The disease is caused by variants affecting the gene represented in this entry.

2 regional properties for O60282

Type	Name	Position	InterPro Accession
domain	Kinesin motor domain	6 - 335	IPR001752
conserved_site	Kinesin motor domain, conserved site	226 - 237	IPR019821

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm, cytoskeleton Cell projection, dendrite	Abundant in distal regions of dendrites
PANTHER Family	PTHR47968	CENTROMERE PROTEIN E
PANTHER Subfamily	PTHR47968:SF57	KINESIN FAMILY MEMBER 5C
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

8 GO annotations of cellular component

Name	Definition
axon cytoplasm	Any cytoplasm that is part of a axon.
axonal growth cone	The migrating motile tip of a growing nerve cell axon.
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.
dendrite cytoplasm	All of the contents of a dendrite, excluding the surrounding plasma membrane.
distal axon	That part of an axon close to and including the growth cone or the axon terminus.
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.
neuronal cell body	The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites.

5 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP hydrolysis activity	Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient.
microtubule binding	Binding to a microtubule, a filament composed of tubulin monomers.
microtubule motor activity	A motor activity that generates movement along a microtubule, driven by ATP hydrolysis.
plus-end-directed microtubule motor activity	A motor activity that generates movement along a microtubule toward the plus end, driven by ATP hydrolysis.

9 GO annotations of biological process

Name	Definition
anterograde axonal protein transport	The directed movement of proteins along microtubules from the cell body toward the cell periphery in nerve cell axons.
anterograde dendritic transport of neurotransmitter receptor complex	The directed movement of a neurotransmitter receptor complex along microtubules in nerve cell dendrites towards the postsynapse.
axon guidance	The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues.
cytoskeleton-dependent intracellular transport	The directed movement of substances along cytoskeletal fibers such as microfilaments or microtubules within a cell.
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.
motor neuron axon guidance	The process in which the migration of an axon growth cone of a motor neuron is directed to a specific target site in response to a combination of attractive and repulsive cues.
mRNA transport	The directed movement of mRNA, messenger ribonucleic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
organelle organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an organelle within a cell. An organelle is an organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane.
synaptic vesicle transport	The directed movement of synaptic vesicles.

19 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P17210	Khc	Kinesin heavy chain	Drosophila melanogaster (Fruit fly)	EV
P33176	KIF5B	Kinesin-1 heavy chain	Homo sapiens (Human)	EV
Q12840	KIF5A	Kinesin heavy chain isoform 5A	Homo sapiens (Human)	EV
Q2M1P5	KIF7	Kinesin-like protein KIF7	Homo sapiens (Human)	EV
Q86VH2	KIF27	Kinesin-like protein KIF27	Homo sapiens (Human)	SS
Q7Z4S6	KIF21A	Kinesin-like protein KIF21A	Homo sapiens (Human)	EV
O75037	KIF21B	Kinesin-like protein KIF21B	Homo sapiens (Human)	EV
Q9P2E2	KIF17	Kinesin-like protein KIF17	Homo sapiens (Human)	EV
O00139	KIF2A	Kinesin-like protein KIF2A	Homo sapiens (Human)	PR
Q9NQT8	KIF13B	Kinesin-like protein KIF13B	Homo sapiens (Human)	EV
Q9H1H9	KIF13A	Kinesin-like protein KIF13A	Homo sapiens (Human)	SS
O43896	KIF1C	Kinesin-like protein KIF1C	Homo sapiens (Human)	SS
P33175	Kif5a	Kinesin heavy chain isoform 5A	Mus musculus (Mouse)	SS
Q61768	Kif5b	Kinesin-1 heavy chain	Mus musculus (Mouse)	EV
P28738	Kif5c	Kinesin heavy chain isoform 5C	Mus musculus (Mouse)	SS
Q6QLM7	Kif5a	Kinesin heavy chain isoform 5A	Rattus norvegicus (Rat)	SS
Q2PQA9	Kif5b	Kinesin-1 heavy chain	Rattus norvegicus (Rat)	SS
P34540	unc-116	Kinesin heavy chain	Caenorhabditis elegans	SS
Q9SV36	KINUC	Kinesin-like protein KIN-UC	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MADPAECSIK	VMCRFRPLNE	AEILRGDKFI	PKFKGDETVV	IGQGKPYVFD	RVLPPNTTQE
70	80	90	100	110	120
QVYNACAKQI	VKDVLEGYNG	TIFAYGQTSS	GKTHTMEGKL	HDPQLMGIIP	RIAHDIFDHI
130	140	150	160	170	180
YSMDENLEFH	IKVSYFEIYL	DKIRDLLDVS	KTNLAVHEDK	NRVPYVKGCT	ERFVSSPEEV
190	200	210	220	230	240
MDVIDEGKAN	RHVAVTNMNE	HSSRSHSIFL	INIKQENVET	EKKLSGKLYL	VDLAGSEKVS
250	260	270	280	290	300
KTGAEGAVLD	EAKNINKSLS	ALGNVISALA	EGTKTHVPYR	DSKMTRILQD	SLGGNCRTTI
310	320	330	340	350	360
VICCSPSVFN	EAETKSTLMF	GQRAKTIKNT	VSVNLELTAE	EWKKKYEKEK	EKNKTLKNVI
370	380	390	400	410	420
QHLEMELNRW	RNGEAVPEDE	QISAKDQKNL	EPCDNTPIID	NIAPVVAGIS	TEEKEKYDEE
430	440	450	460	470	480
ISSLYRQLDD	KDDEINQQSQ	LAEKLKQQML	DQDELLASTR	RDYEKIQEEL	TRLQIENEAA
490	500	510	520	530	540
KDEVKEVLQA	LEELAVNYDQ	KSQEVEDKTR	ANEQLTDELA	QKTTTLTTTQ	RELSQLQELS
550	560	570	580	590	600
NHQKKRATEI	LNLLLKDLGE	IGGIIGTNDV	KTLADVNGVI	EEEFTMARLY	ISKMKSEVKS
610	620	630	640	650	660
LVNRSKQLES	AQMDSNRKMN	ASERELAACQ	LLISQHEAKI	KSLTDYMQNM	EQKRRQLEES
670	680	690	700	710	720
QDSLSEELAK	LRAQEKMHEV	SFQDKEKEHL	TRLQDAEEMK	KALEQQMESH	REAHQKQLSR
730	740	750	760	770	780
LRDEIEEKQK	IIDEIRDLNQ	KLQLEQEKLS	SDYNKLKIED	QEREMKLEKL	LLLNDKREQA
790	800	810	820	830	840
REDLKGLEET	VSRELQTLHN	LRKLFVQDLT	TRVKKSVELD	NDDGGGSAAQ	KQKISFLENN
850	860	870	880	890	900
LEQLTKVHKQ	LVRDNADLRC	ELPKLEKRLR	ATAERVKALE	SALKEAKENA	MRDRKRYQQE
910	920	930	940	950
VDRIKEAVRA	KNMARRAHSA	QIAKPIRPGH	YPASSPTAVH	AIRGGGGSSS	NSTHYQK