AiPD: Autoinhibited Protein Database

Q9HC96

Gene name	CAPN10 (KIAA1845)
Protein name	Calpain-10
Names	Calcium-activated neutral proteinase 10, CANP 10
Species	Homo sapiens (Human)
KEGG Pathway	hsa:11132
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

251-322 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

251-322 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

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

Autoinhibited structure

Activated structure

1 structures for Q9HC96

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9HC96-F1	Predicted				AlphaFoldDB

644 variants for Q9HC96

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs371403663 CA2205480 RCV001265657	156	A>T	Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1559425580 RCV001265658	287	A>missing	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
rs1418856936 CA351291043	2	R>W		No	ClinGen gnomAD
rs1473867213 CA351291068	3	A>V		No	ClinGen TOPMed gnomAD
rs1325306857 CA351291082	4	G>D		No	ClinGen TOPMed
CA351291113 rs958871941	5	R>L		No	ClinGen TOPMed gnomAD
rs958871941 CA68121512	5	R>Q		No	ClinGen TOPMed gnomAD
rs1384341883 CA351291122	6	G>D		No	ClinGen gnomAD
CA68121530 rs975605568	6	G>S		No	ClinGen TOPMed
rs1300563570 CA351291173	8	T>M		No	ClinGen gnomAD
CA68121553 rs971437230	9	P>L		No	ClinGen TOPMed
CA351291230 rs1222811094	12	E>G		No	ClinGen TOPMed
CA68121558 rs972507480	12	E>K		No	ClinGen gnomAD
CA351291283 rs1246516258	15	R>G		No	ClinGen gnomAD
CA351291289 rs1182919854	15	R>Q		No	ClinGen TOPMed gnomAD
rs1277328913 CA351291310	16	D>H		No	ClinGen gnomAD
rs1277328913 CA351291304	16	D>N		No	ClinGen gnomAD
rs1241275448 CA351291318	16	D>V		No	ClinGen gnomAD
rs1349291223 CA351291339	18	A>V		No	ClinGen gnomAD
rs1484613570 CA351291398	21	A>D		No	ClinGen gnomAD
rs1288100891 CA351291387	21	A>T		No	ClinGen gnomAD
CA351291412 rs1257956089	22	A>S		No	ClinGen gnomAD
CA2205364 rs766195991	25	S>*		No	ClinGen ExAC gnomAD
CA2205363 rs766195991	25	S>L		No	ClinGen ExAC gnomAD
rs1363349305 CA351291506	26	L>F		No	ClinGen TOPMed gnomAD
CA351291499 rs1363349305	26	L>I		No	ClinGen TOPMed gnomAD
rs1160489053 CA351291563	28	C>Y		No	ClinGen gnomAD
TCGA novel	29	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351291643 rs1434581638	30	L>F		No	ClinGen gnomAD
CA68121585 rs759171547	31	S>C		No	ClinGen ExAC TOPMed gnomAD
CA2205365 rs759171547	31	S>F		No	ClinGen ExAC TOPMed gnomAD
CA2205366 rs557342363	32	T>R		No	ClinGen 1000Genomes ExAC gnomAD
COSM3695384 COSM3695382 RCV000889461 COSM3695381 rs138005500 CA2205367	34	L>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1326416291 CA351291736	35	A>T		No	ClinGen gnomAD
rs1575443924 CA351291831	38	R>G		No	ClinGen Ensembl
CA351291840 rs1398615637	38	R>H		No	ClinGen gnomAD
TCGA novel	39	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA68121604 rs1044160399	40	D>N		No	ClinGen TOPMed
CA351291901 rs1310742612	41	I>V		No	ClinGen TOPMed gnomAD
TCGA novel	42	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs905271434 CA68121607	42	T>P		No	ClinGen TOPMed gnomAD
rs905271434 CA351291922	42	T>S		No	ClinGen TOPMed gnomAD
CA351292008 rs1267221494	46	P>S		No	ClinGen TOPMed
CA351292028 rs1346835552	47	Q>H		No	ClinGen TOPMed gnomAD
CA351292017 rs1256409788	47	Q>K		No	ClinGen gnomAD
rs948039711 CA68122778	48	E>K		No	ClinGen Ensembl
CA351292593 rs1427201539	49	I>V		No	ClinGen gnomAD
CA2205382 rs142471367	50	C>R		No	ClinGen ESP ExAC gnomAD
rs771126731 CA2205385	54	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2205384 rs764730986	54	R>W		No	ClinGen ExAC gnomAD
CA351292641 rs139462940	57	P>S		No	ClinGen ESP TOPMed
rs139462940 CA68122801	57	P>T		No	ClinGen ESP TOPMed
rs751154296 CA2205388	61	R>Q		No	ClinGen ExAC
rs763690414 CA2205387	61	R>W		No	ClinGen ExAC TOPMed gnomAD
CA2205389 rs756667300	63	G>R		No	ClinGen ExAC gnomAD
rs767047251 CA2205390	64	Q>H		No	ClinGen ExAC gnomAD
CA351292687 rs1369654441	64	Q>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA351292692 rs1293545109	65	V>E		No	ClinGen TOPMed
rs754246897 CA2205391	65	V>M		No	ClinGen ExAC gnomAD
CA351292711 rs1340863138	68	G>R		No	ClinGen gnomAD
rs1575445514 CA351292737	72	D>G		No	ClinGen Ensembl
rs1222403710 CA351292734	72	D>Y		No	ClinGen gnomAD
rs1005767229 CA68122817	73	C>G		No	ClinGen Ensembl
TCGA novel	73	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778941616 CA2205393	74	W>R		No	ClinGen ExAC gnomAD
CA351292767 rs1485217567	76	L>P		No	ClinGen gnomAD
CA68122826 rs1038103693	77	C>Y		No	ClinGen Ensembl
rs777811694 CA2205397	80	A>P		No	ClinGen ExAC TOPMed gnomAD
rs777811694 CA2205396	80	A>T		No	ClinGen ExAC TOPMed gnomAD
CA351292793 rs1422649684	80	A>V		No	ClinGen TOPMed
rs781112808 CA2205399	81	A>T		No	ClinGen ExAC TOPMed gnomAD
COSM1018735 COSM1018734 COSM1591989 rs745593937 CA2205400	81	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA351292807 rs1233582226	83	Q>R		No	ClinGen Ensembl
CA351292815 rs1559423128	84	K>R		No	ClinGen Ensembl
CA351292834 rs1232105849	87	H>N		No	ClinGen TOPMed gnomAD
CA351292835 rs1232105849	87	H>Y		No	ClinGen TOPMed gnomAD
CA351292844 rs1276626242	88	L>F		No	ClinGen TOPMed
rs773980754 CA2205405	89	L>P		No	ClinGen ExAC gnomAD
CA2205407 rs766922732	90	D>E		No	ClinGen ExAC gnomAD
rs761473089 CA2205406	90	D>G		No	ClinGen ExAC TOPMed gnomAD
CA2205408 rs762035846	91	Q>*		No	ClinGen ExAC gnomAD
rs756062111 CA2205441	92	V>I		No	ClinGen ExAC gnomAD
CA351294042 rs1485389464	93	I>V		No	ClinGen TOPMed
rs141615023 CA2205442	95	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs961748012 CA68124008	96	G>E		No	ClinGen TOPMed
CA68124012 rs904376200	98	P>L		No	ClinGen TOPMed gnomAD
CA351294166 rs904376200	98	P>Q		No	ClinGen TOPMed gnomAD
CA68124022 rs374645877	99	S>N		No	ClinGen ESP gnomAD
CA351294221 rs1414640067	100	W>*		No	ClinGen TOPMed
CA2205445 rs778658220	101	A>V		No	ClinGen ExAC TOPMed gnomAD
rs959809930 CA351294264	102	D>H		No	ClinGen gnomAD
CA68124108 rs959809930	102	D>N		No	ClinGen gnomAD
rs771900528 CA351294391	106	R>L		No	ClinGen ExAC TOPMed gnomAD
rs771900528 CA2205447	106	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2205446 rs747774253	106	R>W		No	ClinGen ExAC TOPMed gnomAD
CA351294406 rs1398803388	107	G>V		No	ClinGen TOPMed
rs1246062946 CA351294462	110	T>I		No	ClinGen gnomAD
CA2205448 rs772766088	111	C>S		No	ClinGen ExAC gnomAD
CA2205449 rs746568341	112	R>C		No	ClinGen ExAC TOPMed gnomAD
COSM1660973 COSM1660972 CA2205450 rs770272925	112	R>H	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA2205451 rs775879249	113	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1026537146 CA68124141	115	Q>H		No	ClinGen TOPMed gnomAD
CA351294689 rs1322895178	118	R>C		No	ClinGen TOPMed gnomAD
rs368742220 CA2205453	118	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	121	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2205454 rs774735344	122	V>A		No	ClinGen ExAC gnomAD
CA351294790 rs774735344	122	V>G		No	ClinGen ExAC gnomAD
CA2205455 rs761996845	124	T>A		No	ClinGen ExAC gnomAD
rs1340273824 CA351294818	124	T>R		No	ClinGen gnomAD
CA351294850 rs1575446711	125	D>E		No	ClinGen Ensembl
CA351294866 rs1575446716	126	D>A		No	ClinGen Ensembl
rs750507423 CA2205457	127	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2205458 rs750507423	127	R>G		No	ClinGen ExAC TOPMed gnomAD
CA2205459 rs766281286	127	R>H		No	ClinGen ExAC gnomAD
rs778830196 CA2205462	129	P>L		No	ClinGen ExAC TOPMed gnomAD
CA68124165 rs112471054	129	P>S		No	ClinGen Ensembl
rs1223629747 CA351294988	130	C>Y		No	ClinGen gnomAD
rs748016007 CA2205463	132	A>S		No	ClinGen ExAC gnomAD
rs777295496 CA2205467	136	C>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	136	C>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA68124205 rs911328960	138	S>C		No	ClinGen TOPMed gnomAD
CA351295222 rs911328960	138	S>F		No	ClinGen TOPMed gnomAD
CA2205469 rs151024127	139	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA351295239 rs151024127	139	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA2205470 rs770374333	139	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1287928778 CA351295263	140	C>R		No	ClinGen TOPMed
CA351295276 rs1428147347	140	C>Y		No	ClinGen TOPMed
rs1278542531 CA351295310	142	R>G		No	ClinGen Ensembl
CA351295314 rs1316872862	142	R>K		No	ClinGen gnomAD
rs1316872862 CA351295318	142	R>M		No	ClinGen gnomAD
rs749761334 CA68124233	143	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1460703041 CA351295430	145	V>M		No	ClinGen TOPMed
rs1400998267 CA351295463	146	F>S		No	ClinGen gnomAD
rs913218672 CA68124244	148	L>F		No	ClinGen TOPMed
CA2205475 rs774681980	149	P>H		No	ClinGen ExAC TOPMed gnomAD
CA2205476 rs774681980	149	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	151	L>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1283132066 CA351295655	153	K>E		No	ClinGen gnomAD
rs575042303 CA68124284	154	V>D		No	ClinGen Ensembl
rs371403663 CA2205481	156	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA351295795 rs1253830984	157	K>R		No	ClinGen TOPMed
rs1415807482 CA351295957	158	V>F		No	ClinGen gnomAD
CA2205505 rs368964748	159	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1269107417 CA351295984	161	S>F		No	ClinGen gnomAD
rs140653709 CA2205508	162	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2205509 rs749864876	163	E>K		No	ClinGen ExAC TOPMed gnomAD
COSM1494858 COSM1494857 CA68125180 rs867854825	167	A>V	kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA2205511 rs779342230	168	G>R		No	ClinGen ExAC gnomAD
CA2205512 rs748683595	169	Q>E		No	ClinGen ExAC gnomAD
CA351296078 rs1303833445	170	V>A		No	ClinGen TOPMed
CA351296076 rs1458286829	170	V>L		No	ClinGen gnomAD
rs1180541746 CA351296088	171	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1388514127 CA351296102	172	D>E		No	ClinGen TOPMed
rs569236143 CA2205514	172	D>H		No	ClinGen 1000Genomes ExAC
rs530827882 CA2205515	172	D>V		No	ClinGen 1000Genomes ExAC gnomAD
rs759644421 CA2205518	175	V>E		No	ClinGen ExAC gnomAD
CA68125221 rs1051588191	176	D>N		No	ClinGen TOPMed
rs1167004896 CA351296176	178	T>S		No	ClinGen TOPMed
COSM3939012 CA2205520 COSM3939011 rs139668112	179	G>S	oesophagus [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA68125242 rs1010081589	180	G>A		No	ClinGen TOPMed
CA2205522 rs764148287	180	G>S		No	ClinGen ExAC TOPMed gnomAD
CA351296211 rs1386141308	182	A>T		No	ClinGen gnomAD
rs141175141 CA2205524	184	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1001147367 CA68125286	186	N>K		No	ClinGen TOPMed
rs1332587158 CA351296310	188	K>R		No	ClinGen gnomAD
CA2205527 rs755580920	189	G>D		No	ClinGen ExAC gnomAD
rs1349635180 CA351296337	190	V>A		No	ClinGen TOPMed
rs753436095 CA2205529	190	V>I		No	ClinGen ExAC TOPMed gnomAD
CA351296345 rs1280534206	191	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA351296372 rs1488478204	193	S>N		No	ClinGen gnomAD
rs747279835 CA2205532	194	G>E		No	ClinGen ExAC TOPMed gnomAD
rs374908348 CA2205531	194	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1193315741 CA351296394	195	G>S		No	ClinGen gnomAD
rs1422489553 CA351296414	196	Q>*		No	ClinGen gnomAD
rs546950747 CA68125338	197	Q>*		No	ClinGen Ensembl
rs757719497 CA2205533	198	D>E		No	ClinGen ExAC TOPMed gnomAD
CA2205534 rs781528296	199	R>S		No	ClinGen ExAC gnomAD
rs1172281603 CA351296478	199	R>W		No	ClinGen gnomAD
TCGA novel	200	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351296494 rs3792268	200	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000901222 CA2205535 VAR_014437 rs3792268	200	P>T		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1306295257 CA351296510	201	G>A		No	ClinGen TOPMed
rs775701945 CA2205537	202	R>C		No	ClinGen ExAC TOPMed gnomAD
rs775701945 CA2205538	202	R>G		No	ClinGen ExAC TOPMed gnomAD
VAR_014438 CA2205539 rs768407925	202	R>H		No	ClinGen UniProt ExAC dbSNP gnomAD
CA351296523 rs768407925	202	R>L		No	ClinGen ExAC gnomAD
CA351296514 rs775701945	202	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1297287607 CA351296532	203	W>G		No	ClinGen gnomAD
CA351296543 rs1341421059	204	E>K		No	ClinGen gnomAD
rs951725011 CA68125370	205	H>D		No	ClinGen TOPMed
rs1172143497 CA351296560	205	H>P		No	ClinGen TOPMed
rs774356046 CA2205540	206	R>G		No	ClinGen ExAC TOPMed gnomAD
CA2205542 rs767331086	209	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs149999733 CA2205541	209	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA351296662 rs1472531260	212	L>F		No	ClinGen TOPMed
CA351296684 rs766089057	213	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1264345141 CA351296680	213	H>R		No	ClinGen gnomAD
rs760297900 CA2205544	213	H>Y		No	ClinGen ExAC gnomAD
rs568167481 CA351296695	214	L>P		No	ClinGen 1000Genomes ExAC gnomAD
rs568167481 CA2205546	214	L>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1422764192 CA351296705	215	K>Q		No	ClinGen gnomAD
CA68125444 rs964075273	217	Q>*		No	ClinGen TOPMed gnomAD
CA2205548 rs764459834	217	Q>P		No	ClinGen ExAC gnomAD
rs369247221 CA2205549	218	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA351296790 rs1157896289	219	L>P		No	ClinGen gnomAD
rs903404123 CA68125450	221	S>T		No	ClinGen TOPMed
rs1000401527 CA351296850	222	C>F		No	ClinGen gnomAD
rs1000401527 CA68125452	222	C>Y		No	ClinGen gnomAD
CA68125461 rs934068237	224	V>E		No	ClinGen TOPMed
rs374005255 CA2205551	224	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1396691385 CA351296924	225	L>P		No	ClinGen gnomAD
rs1281552801 CA351296935	226	S>G		No	ClinGen gnomAD
CA351296952 rs1286320742	226	S>R		No	ClinGen TOPMed
rs746295304 CA2205552	227	P>T		No	ClinGen ExAC TOPMed gnomAD
CA2205581 rs201697135	232	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148716964 CA2205580	232	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1446544309 CA351298115	233	E>K		No	ClinGen TOPMed
CA351298166 rs1208862333	235	G>E		No	ClinGen TOPMed gnomAD
rs1477608764 CA351298157	235	G>R		No	ClinGen gnomAD
CA351298172 rs1208862333	235	G>V		No	ClinGen TOPMed gnomAD
CA68129415 rs796689943	236	E>A		No	ClinGen TOPMed gnomAD
CA2205584 rs769393197	236	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA351298259 rs1559425245	238	H>L		No	ClinGen Ensembl
rs201800700 CA2205587	238	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs750985071 CA2205588	239	A>G		No	ClinGen ExAC gnomAD
rs1258715664 CA351298345	241	I>F		No	ClinGen TOPMed gnomAD
CA2205589 rs761078239	241	I>T		No	ClinGen ExAC gnomAD
rs776379324 CA2205590	243	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1575449198 CA351298498	244	D>A		No	ClinGen Ensembl
rs1278334046 CA351298506	244	D>E		No	ClinGen gnomAD
rs1315628228 CA351298484	244	D>N		No	ClinGen TOPMed
CA2205594 rs779070069	246	R>P		No	ClinGen ExAC gnomAD
CA2205593 rs779070069	246	R>Q		No	ClinGen ExAC gnomAD
COSM210607 rs372639976 CA2205592	246	R>W	large_intestine Variant assessed as Somatic; 4.631e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1322198587 CA351298582	248	L>F		No	ClinGen gnomAD
rs769690789 CA68129456	249	Q>K		No	ClinGen Ensembl
TCGA novel	251	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA68129463 rs548715768	251	Q>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2205596 rs548715768	251	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA351298748 rs770826232	252	A>G		No	ClinGen ExAC TOPMed gnomAD
CA2205598 rs770826232	252	A>V		No	ClinGen ExAC TOPMed gnomAD
CA351298752 rs1244009062	253	G>S		No	ClinGen gnomAD
CA351298791 rs1471868385	255	C>R		No	ClinGen TOPMed gnomAD
CA351298883 rs1371206992	259	L>P		No	ClinGen TOPMed
CA2205601 rs201991603	260	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA68129508 rs745718891	260	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1220506803 CA351298930	261	I>N		No	ClinGen TOPMed
rs1360265716 CA351298958	262	Q>R		No	ClinGen gnomAD
rs1274186175 CA351299009	264	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA351298994 rs1559425310	264	P>T		No	ClinGen Ensembl
CA351299077 rs748756122	267	R>P		No	ClinGen ExAC TOPMed gnomAD
CA2205604 rs748756122	267	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2205603 rs775291536	267	R>W		No	ClinGen ExAC TOPMed gnomAD
CA2205606 rs774043486	268	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs768308971 CA2205605	268	R>W		No	ClinGen ExAC gnomAD
CA351299121 rs1345573589	269	C>F		No	ClinGen TOPMed
rs1283677579 CA351299147	270	W>C		No	ClinGen gnomAD
CA351299140 rs1248035804	270	W>S		No	ClinGen TOPMed gnomAD
TCGA novel	273	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2205608 rs766851924	274	W>*		No	ClinGen ExAC gnomAD
CA2205609 rs777047316	274	W>C		No	ClinGen ExAC gnomAD
rs1440851531 CA351299223	275	R>G		No	ClinGen gnomAD
CA2205612 CA2205611 rs150113284	276	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_036049	276	E>G	a colorectal cancer sample; somatic mutation [UniProt]	No	UniProt
rs1037829546 CA68129592	276	E>K		No	ClinGen TOPMed
rs758660700 CA2205613	277	G>A		No	ClinGen ExAC gnomAD
rs1409083560 CA351299249	277	G>R		No	ClinGen TOPMed
rs370216116 CA2205636	278	G>D		No	ClinGen ESP ExAC gnomAD
rs757301434 CA2205637	279	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1265822134 CA351300469	282	S>N		No	ClinGen gnomAD
CA2205639 rs767436231	282	S>R		No	ClinGen ExAC TOPMed gnomAD
CA351300497 rs1268289764	283	Q>*		No	ClinGen gnomAD
TCGA novel	283	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2205640 rs756114074	283	Q>R		No	ClinGen ExAC gnomAD
rs779969947 CA2205641	284	V>I		No	ClinGen ExAC gnomAD
COSM1406833 CA2205642 COSM1406832 rs149240512	287	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs778711640 CA2205644	289	A>T		No	ClinGen ExAC gnomAD
rs137930786 CA68130064	290	S>C		No	ClinGen ESP gnomAD
CA2205646 rs144696781	291	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs147221444 CA2205645	291	E>K		No	ClinGen ESP ExAC gnomAD
CA351300764 rs1303523533	292	L>H		No	ClinGen gnomAD
CA2205647 rs777385683	292	L>V		No	ClinGen ExAC gnomAD
rs1277697787 CA351300829	294	S>F		No	ClinGen gnomAD
CA351300835 rs1229648669	295	Q>*		No	ClinGen gnomAD
CA68130089 rs1034936226	296	L>F		No	ClinGen TOPMed gnomAD
CA351300973 rs1203186202	298	E>G		No	ClinGen TOPMed
CA351300991 rs1321478770	299	G>R		No	ClinGen TOPMed
CA351301036 rs1262758956	301	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA351301061 rs1240071563	302	W>G		No	ClinGen TOPMed
rs746339773 CA2205648	303	V>M		No	ClinGen ExAC gnomAD
rs200757356 CA68130125	304	E>D		No	ClinGen 1000Genomes gnomAD
rs560961041 CA2205649	305	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA351301171 rs1372121584	306	E>K		No	ClinGen gnomAD
TCGA novel	306	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1410064599 CA351301177	306	E>V		No	ClinGen TOPMed gnomAD
CA351301248 rs1428600146	310	R>G		No	ClinGen TOPMed gnomAD
rs545243469 CA351301273	311	E>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA2205652 rs768811919	311	E>D		No	ClinGen ExAC gnomAD
rs545243469 CA2205651	311	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA2205653 rs774455277	312	F>S		No	ClinGen ExAC
CA351301313 rs761909084	313	D>E		No	ClinGen ExAC TOPMed gnomAD
CA2205656 rs377500913	314	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA2205655 rs377500913	314	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA351301349 rs1367176965	316	T>A		No	ClinGen gnomAD
CA2205658 rs766488505	317	V>I		No	ClinGen ExAC TOPMed gnomAD
rs140681762 CA2205661 RCV000905037	320	P>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs974232184 CA68130169	321	V>L		No	ClinGen Ensembl
rs932342960 CA68130175	322	T>M		No	ClinGen TOPMed gnomAD
rs1352000053 CA351301541 CA351301542	323	E>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA351301552 rs746599972	324	A>S		No	ClinGen ExAC TOPMed gnomAD
CA2205666 rs746599972	324	A>T		No	ClinGen ExAC TOPMed gnomAD
CA2205667 rs146771809	325	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs769036578 CA2205670	327	L>R		No	ClinGen ExAC gnomAD
CA2205671 rs774815355	329	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1158033383	332	T>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA2205672 rs536446683	332	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs536446683 CA351301770	332	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs749991487 CA2205703	336	L>P		No	ClinGen ExAC gnomAD
rs766987590 CA2205702	336	L>V		No	ClinGen ExAC gnomAD
rs755432883 CA2205704	337	C>S		No	ClinGen ExAC TOPMed gnomAD
CA2205705 rs779477564	338	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA2205706 rs748401959	339	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA351302105 rs747212701	340	R>G		No	ClinGen ExAC TOPMed gnomAD
CA2205710 rs200682095	340	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs747212701 COSM1018746 CA2205709 COSM1018747	340	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1028142113 CA68130732	341	A>T		No	ClinGen TOPMed gnomAD
VAR_014439 CA2205711 rs776848131	341	A>V		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs182758984 CA2205713	343	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1575450302 CA351302157	343	P>T		No	ClinGen Ensembl
rs1284705998 CA351302172	344	G>R		No	ClinGen gnomAD
rs775523476 CA2205714	345	A>V		No	ClinGen ExAC gnomAD
CA351302210 rs1367880872	346	W>*		No	ClinGen TOPMed
CA351302203 rs1418293274	346	W>S		No	ClinGen TOPMed
CA2205715 rs371277139	347	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA2205717 rs374988590	348	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1219187442 CA351302237	348	K>R		No	ClinGen gnomAD
rs761439895 CA2205718	353	G>R		No	ClinGen ExAC TOPMed gnomAD
CA351302350 rs1201884119	355	C>Y		No	ClinGen gnomAD
rs371934367 CA351302364	356	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs371934367 CA2205720	356	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA2205719 rs369150928	356	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA68130818 rs867237291	357	N>K		No	ClinGen gnomAD
CA2205721 rs755661251	359	S>G		No	ClinGen ExAC gnomAD
CA2205723 rs202008025	360	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA351302408 rs1344097593	363	S>C		No	ClinGen TOPMed gnomAD
CA2205725 rs151304022	363	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA2205726 rs752039061	364	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs914181233 CA68130873	366	K>E		No	ClinGen Ensembl
CA351302432 rs1277596265	366	K>R		No	ClinGen TOPMed
rs1364035345 CA351302469	368	W>C		No	ClinGen gnomAD
rs368852606 CA2205728	370	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs757489978 CA2205727	370	R>W	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1359920850 CA351302488	371	V>I		No	ClinGen TOPMed gnomAD
CA351302506 rs1321943001	372	S>*		No	ClinGen gnomAD
rs188932271 CA2205729	374	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2205732 rs201702916	377	V>A		No	ClinGen 1000Genomes ExAC
CA351302602 rs1243889531	379	I>S		No	ClinGen gnomAD
rs768530567 CA2205733	379	I>V		No	ClinGen ExAC TOPMed gnomAD
CA351302623 rs1313782889	381	V>A		No	ClinGen gnomAD
CA2205735 rs761598065	381	V>I		No	ClinGen ExAC TOPMed gnomAD
rs552159586 CA68130928	382	L>R		No	ClinGen 1000Genomes TOPMed gnomAD
rs1446834881 CA351302630	382	L>V		No	ClinGen gnomAD
rs1270589701 CA351302645	383	Q>R		No	ClinGen TOPMed
CA351302661 rs1382413472	384	R>K		No	ClinGen gnomAD
CA351302677 rs1318460703	385	S>F		No	ClinGen gnomAD
rs772872543 CA2205737	385	S>P		No	ClinGen ExAC gnomAD
rs765891497 CA2205739	386	R>K		No	ClinGen ExAC gnomAD
rs200622375 CA351302713	388	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs764704125 CA2205742	389	A>T		No	ClinGen ExAC TOPMed gnomAD
rs11556468 CA2205743	389	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA351302723 rs1224521966	390	A>T		No	ClinGen gnomAD
rs372834728 CA2205745	390	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA351302737 rs1465317480	391	D>G		No	ClinGen gnomAD
CA351302734 rs1203044068	391	D>Y		No	ClinGen gnomAD
CA351302743 rs1244355483	392	W>*		No	ClinGen gnomAD
CA68130984 rs940064313	393	A>G		No	ClinGen gnomAD
rs780165677 CA2205748	395	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs138959181 CA2205747	395	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1575450504 CA351302765	396	A>T		No	ClinGen Ensembl
TCGA novel	397	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778834356 CA2205751	397	R>Q		No	ClinGen ExAC gnomAD
rs370726283 CA2205750	397	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2205752 rs747887998	398	A>T		No	ClinGen ExAC gnomAD
rs1365891575 CA351302836 CA351302838	402	D>E		No	ClinGen TOPMed
rs200186797 CA2205754	404	H>R		No	ClinGen ExAC gnomAD
rs1281496903 CA351302911	405	T>I		No	ClinGen gnomAD
CA2205755 rs760362038	406	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA351302955 rs1326339230	407	W>C		No	ClinGen gnomAD
rs867460893 CA68131048	409	P>L		No	ClinGen Ensembl
rs144532292 CA68131049	410	A>S		No	ClinGen ESP TOPMed gnomAD
CA2205757 rs776140775	410	A>V		No	ClinGen ExAC TOPMed gnomAD
rs889625559 CA68131051	412	I>V		No	ClinGen TOPMed
CA2205759 rs764648885	413	P>L		No	ClinGen ExAC TOPMed gnomAD
rs762453865 CA2205761	414	G>V		No	ClinGen ExAC gnomAD
CA351303200 rs1175141018	415	K>E		No	ClinGen gnomAD
CA2205762 rs767975777	415	K>N		No	ClinGen ExAC gnomAD
rs750807609 CA2205763	418	Q>L		No	ClinGen ExAC gnomAD
rs750807609 CA351303304	418	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	419	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	419	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756351129 CA2205764	420	V>M		No	ClinGen ExAC gnomAD
rs766511704 CA2205765	423	H>Y		No	ClinGen ExAC gnomAD
rs1330633334 CA351303437	424	L>F		No	ClinGen gnomAD
CA351304032 rs1436645304	427	V>I		No	ClinGen gnomAD
rs755756511 CA2205814	429	K>*		No	ClinGen ExAC gnomAD
CA2205815 rs755756511	429	K>E		No	ClinGen ExAC gnomAD
rs768080984 CA2205817	430	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs748756061 CA2205816	430	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2205819 rs201807668	431	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs369837274 CA2205818	431	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs200003517 CA2205820	432	V>G		No	ClinGen ExAC gnomAD
rs1020715828 CA68132219	432	V>L		No	ClinGen gnomAD
rs759907402 CA2205822	433	N>K		No	ClinGen ExAC gnomAD
CA2205821 rs776914728	433	N>S		No	ClinGen ExAC TOPMed gnomAD
rs980412388 CA68132238	435	P>L		No	ClinGen TOPMed
TCGA novel	435	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351304238 rs1391354688	436	R>G		No	ClinGen TOPMed
CA2205823 rs769954158	437	V>G		No	ClinGen ExAC gnomAD
TCGA novel	438	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2205825 rs763272807	439	S>F		No	ClinGen ExAC gnomAD
CA351305493 rs1389957124	440	M>I		No	ClinGen gnomAD
rs1194748925 CA351305473	440	M>L		No	ClinGen TOPMed gnomAD
CA351305476 rs1194748925	440	M>V		No	ClinGen TOPMed gnomAD
rs758832246 CA2205829	443	V>M		No	ClinGen ExAC gnomAD
rs777656879	443	V>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1367252467 CA351305659	446	T>I		No	ClinGen TOPMed gnomAD
CA2205832 rs375653976	447	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA2205833 rs2975765	447	A>V	Variant assessed as Somatic; 9.281e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA351305702 rs373123426	448	C>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA2205835 rs754709387	448	C>Y		No	ClinGen ExAC gnomAD
rs930006352 CA68132318	451	Y>C		No	ClinGen TOPMed
CA351305768 rs1351631279	451	Y>H		No	ClinGen gnomAD
CA351305802 rs1048029128	453	R>L		No	ClinGen TOPMed gnomAD
CA68132338 rs1048029128	453	R>Q		No	ClinGen TOPMed gnomAD
CA2205838 rs771284091	453	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1244107095 CA351305804	454	E>K		No	ClinGen gnomAD
CA2205839 rs781679015	456	H>Y		No	ClinGen ExAC gnomAD
CA2205841 rs374143083	458	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA2205842 rs752063033	458	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs184439941 RCV000893187 CA2205843	460	E>K		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1559426798 CA351306019	462	S>L		No	ClinGen Ensembl
rs774232664 CA2205845	463	P>L		No	ClinGen ExAC TOPMed gnomAD
CA351306031 rs1300462390	463	P>T		No	ClinGen TOPMed
rs767517219 CA2205847	464	G>A		No	ClinGen ExAC gnomAD
rs773316366 CA2205848	465	Y>C		No	ClinGen ExAC gnomAD
CA351306142 rs1350218412	466	Y>D		No	ClinGen gnomAD
CA351306146 rs1241967884	466	Y>S		No	ClinGen Ensembl
rs760736608 CA2205849	470	P>R		No	ClinGen ExAC gnomAD
rs766256299 CA2205850	473	F>L		No	ClinGen ExAC gnomAD
rs114535069 CA2205851 RCV000963117	474	L>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA351306519 rs1051351442	477	A>E		No	ClinGen TOPMed gnomAD
RCV000958636 rs148303768 CA2205853	477	A>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1051351442 CA68132465	477	A>V		No	ClinGen TOPMed gnomAD
rs1559426852 CA351306555	478	P>L		No	ClinGen Ensembl
CA351306590 rs1190954889	480	E>G		No	ClinGen TOPMed gnomAD
CA351306629 rs756668839	481	F>L		No	ClinGen ExAC TOPMed gnomAD
rs904726596 CA68132558	483	L>I		No	ClinGen TOPMed gnomAD
TCGA novel	484	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201984748 CA2205860	484	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA351306834 rs1161612134	487	S>F		No	ClinGen gnomAD
rs768706621 CA2205861	488	T>A		No	ClinGen ExAC gnomAD
CA351306869 rs1416225306	488	T>I		No	ClinGen gnomAD
CA351306938 rs1310166568	489	G>A		No	ClinGen TOPMed
rs534379076 CA2205863	489	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA351306945 rs1410643847	490	R>*		No	ClinGen TOPMed gnomAD
CA351306946 rs752192395	490	R>P		No	ClinGen ExAC TOPMed gnomAD
rs752192395 CA2205864	490	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA68132589 rs538913310	492	S>F		No	ClinGen gnomAD
rs200700918 CA68132596	494	S>T		No	ClinGen Ensembl
CA2205887 rs759430755	495	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs769607366 CA2205888	496	I>F		No	ClinGen ExAC gnomAD
rs1463961288 CA351307367	498	A>T		No	ClinGen TOPMed gnomAD
rs1393004954 CA351307380	498	A>V		No	ClinGen gnomAD
rs1263580929 CA351307405	499	V>G		No	ClinGen TOPMed
CA68132823 rs945698867	500	A>G		No	ClinGen TOPMed gnomAD
CA2205889 rs201527381	500	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201527381 CA351307411	500	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA68132828 rs1042843275	502	N>D		No	ClinGen TOPMed gnomAD
CA351307510 rs1228962407	503	T>A		No	ClinGen TOPMed
rs7607759 VAR_014440 CA2205890	504	T>A		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs7607759 CA351307571	504	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2205891 rs763737919	505	P>A		No	ClinGen ExAC TOPMed gnomAD
CA351307621 rs1559427006	505	P>H		No	ClinGen Ensembl
COSM720908 CA2205892 rs763737919	505	P>S	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA351307600 rs763737919	505	P>T		No	ClinGen ExAC TOPMed gnomAD
CA351307639 rs369630719 CA2205894	506	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA2205896 rs755489917	507	A>E		No	ClinGen ExAC
CA68132869 rs540417767	510	P>L		No	ClinGen 1000Genomes TOPMed
rs200361959 CA2205898	511	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1465266713 CA351307807	511	A>V		No	ClinGen TOPMed gnomAD
CA351307845 rs1241063091	512	G>E		No	ClinGen gnomAD
CA351307895 rs1422984276	513	E>K		No	ClinGen gnomAD
rs771103112 CA2205902	514	W>*		No	ClinGen ExAC gnomAD
rs1559427033 CA351307965	515	G>A		No	ClinGen Ensembl
rs1451794210 CA351308002	516	T>I		No	ClinGen TOPMed gnomAD
rs778761844 CA2205905	517	V>M		No	ClinGen ExAC TOPMed gnomAD
rs529342399 CA2205906	518	Q>K		No	ClinGen 1000Genomes ExAC gnomAD
CA68132930 rs951438183	519	L>P		No	ClinGen TOPMed
rs762746164 CA2205908	520	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2205907 rs775284291	520	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1396909915 CA351308101	521	G>S		No	ClinGen gnomAD
CA351308167 rs1313058230	523	W>*		No	ClinGen gnomAD
rs550974583 CA68132953	523	W>R		No	ClinGen 1000Genomes
CA2205909 rs768253140	524	R>G		No	ClinGen ExAC TOPMed gnomAD
CA2205910 COSM1199509 rs376990183	526	G>S	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA2205911 rs761495953	527	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs767033655 CA2205912	528	T>M		No	ClinGen ExAC gnomAD
VAR_014441	529	A>S		No	UniProt
rs1213163166 CA351308251	529	A>V		No	ClinGen TOPMed
CA351308279 rs1355745708	530	G>A		No	ClinGen gnomAD
rs1355745708 CA351308289	530	G>V		No	ClinGen gnomAD
TCGA novel	531	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2205916 rs765667275	531	G>C		No	ClinGen ExAC TOPMed gnomAD
CA351308303 rs1182221065	531	G>D		No	ClinGen TOPMed gnomAD
rs779173614	532	S>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA351308342 rs1258615129	532	S>R		No	ClinGen gnomAD
rs753054948 CA2205917	533	R>G		No	ClinGen ExAC gnomAD
CA351308424 rs1412827692	534	N>K		No	ClinGen gnomAD
rs1323243797 CA351308484	537	S>L		No	ClinGen TOPMed
rs751806987 CA2205920	538	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA351308508 rs1575452164	538	Y>S		No	ClinGen Ensembl
CA351308523 rs1169557266	539	P>T		No	ClinGen TOPMed
CA351308539 rs1575452173	540	T>P		No	ClinGen Ensembl
rs377630733 CA351308801	547	S>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs377630733 CA2205922	547	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs779874859 CA2205925	550	E>*		No	ClinGen ExAC TOPMed gnomAD
CA2205926 rs779874859	550	E>K		No	ClinGen ExAC TOPMed gnomAD
CA351308990 rs1229636078	553	G>S		No	ClinGen gnomAD
rs945747188 CA351309025	554	P>A		No	ClinGen TOPMed gnomAD
CA351309038 rs1249721523	554	P>L		No	ClinGen TOPMed gnomAD
CA351309048 rs1249721523	554	P>R		No	ClinGen TOPMed gnomAD
rs945747188 CA68133075	554	P>S		No	ClinGen TOPMed gnomAD
RCV000904559 rs201157354 CA2205928	555	R>C		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA351309092 rs1210609015	555	R>H		No	ClinGen TOPMed gnomAD
rs747787989 CA2205929	556	C>S		No	ClinGen ExAC TOPMed gnomAD
rs747049929 CA2205930	557	V>I		No	ClinGen TOPMed gnomAD
CA2205933 rs772712964	558	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2205934 rs372211070	558	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA2205935 rs765727689	559	I>V		No	ClinGen ExAC TOPMed gnomAD
rs377105313 CA2205936	560	T>A		No	ClinGen ExAC TOPMed gnomAD
CA2205937 rs763603614	560	T>S		No	ClinGen ExAC gnomAD
CA68133094 rs368540468	561	L>P		No	ClinGen ESP TOPMed gnomAD
CA351309439 rs1055546242	564	H>P		No	ClinGen TOPMed gnomAD
CA68133096 rs1055546242	564	H>R		No	ClinGen TOPMed gnomAD
rs147491275 CA2205939	565	C>*		No	ClinGen 1000Genomes ExAC gnomAD
rs200753424 CA68133119	566	R>P		No	ClinGen ExAC TOPMed gnomAD
rs200753424 CA2205941	566	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs757430028 CA2205940 COSM418794	566	R>W	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA2205946 rs567799333	571	E>G		No	ClinGen 1000Genomes ExAC gnomAD
CA2205945 rs367830435	571	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1575452278 CA351309764	573	H>P		No	ClinGen Ensembl
rs1026524252 CA68133176	573	H>Y		No	ClinGen Ensembl
CA351309779 rs1175724176	574	P>A		No	ClinGen TOPMed
rs1484326383 COSM720906 CA351309793	574	P>L	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1175724176 CA351309782	574	P>S		No	ClinGen TOPMed
rs747902580 CA2205948	575	I>V		No	ClinGen ExAC TOPMed gnomAD
rs371662692 CA2205950	576	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2205951 rs746714617	577	F>L		No	ClinGen ExAC gnomAD
CA2205952 rs770325392	578	H>R		No	ClinGen ExAC TOPMed gnomAD
rs763548963 CA2205954	580	F>S		No	ClinGen ExAC gnomAD
rs776336512 CA2205953	580	F>V		No	ClinGen ExAC gnomAD
CA2205970 RCV000909359 rs114120181	582	V>A		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA351310163 rs1321090847	582	V>I		No	ClinGen gnomAD
CA351310195 rs1283882504	583	P>L		No	ClinGen gnomAD
TCGA novel	584	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs894352572 CA68134243	585	G>V		No	ClinGen TOPMed
TCGA novel	587	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	587	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA68134244 rs369756768	588	S>R		No	ClinGen ESP gnomAD
CA68134260 rs983525655	589	Q>R		No	ClinGen Ensembl
rs780781756 CA2205972	590	D>G		No	ClinGen ExAC gnomAD
rs1282218796 CA351310317	590	D>Y		No	ClinGen gnomAD
CA68134277 rs909222854	591	A>T		No	ClinGen gnomAD
rs1460275142 CA351310347	591	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA351310352 rs372925946	592	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs372925946 CA2205974	592	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA2205976 rs762425976	593	P>L		No	ClinGen ExAC TOPMed gnomAD
rs762425976 CA2205977	593	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA351310383 rs762425976	593	P>R		No	ClinGen ExAC TOPMed gnomAD
CA351310377 rs1318555203	593	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs760805653 CA2205979	594	L>V		No	ClinGen ExAC gnomAD
CA2205982 rs759635598	599	P>L		No	ClinGen ExAC gnomAD
rs1171740931 CA351310490	599	P>S		No	ClinGen TOPMed
CA351310578 rs1360017781	602	S>C		No	ClinGen gnomAD
rs1286641700 CA351310613	604	V>M		No	ClinGen TOPMed gnomAD
rs1349956538 CA351310678	607	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA351310672 rs1349956538	607	R>G		No	ClinGen TOPMed gnomAD
rs758418220 CA2205985	607	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs200200867 CA351310726	608	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2205987 rs368540986	609	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA351310748 rs1228078555	610	Q>E		No	ClinGen TOPMed
rs1200284337 CA351310758	610	Q>L		No	ClinGen gnomAD
CA351310791 rs1575453363	612	V>G		No	ClinGen Ensembl
RCV000970919 VAR_014442 CA2205988 rs146148004	613	S>N		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2205990 rs745327529	614	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2205989 rs567904223	614	R>W		No	ClinGen 1000Genomes ExAC gnomAD
rs1472011221 CA351310847	616	C>R		No	ClinGen gnomAD
rs149857900 CA2205993	617	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA351310931 rs1425649816	620	A>G		No	ClinGen TOPMed gnomAD
CA351310920 rs1171881171	620	A>T		No	ClinGen gnomAD
rs1425649816 CA351310932	620	A>V		No	ClinGen TOPMed gnomAD
CA2205996 rs761042233	623	Y>C		No	ClinGen ExAC gnomAD
CA2205997 rs771095340	624	K>E		No	ClinGen ExAC gnomAD
CA351310993 rs771095340	624	K>Q		No	ClinGen ExAC gnomAD
rs776869845 CA2205998	624	K>R		No	ClinGen ExAC gnomAD
CA351310999 rs776869845	624	K>T		No	ClinGen ExAC gnomAD
CA351311016 rs1461984703	625	V>F		No	ClinGen TOPMed
TCGA novel	625	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351311057 rs1233194625	629	T>A		No	ClinGen TOPMed gnomAD
CA2206000 rs765286984	629	T>I		No	ClinGen ExAC gnomAD
rs1233194625 CA351311059	629	T>S		No	ClinGen TOPMed gnomAD
COSM1018751 CA2206001 rs774894214 COSM1018750	632	P>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs749991824 CA68134484	635	E>G		No	ClinGen Ensembl
TCGA novel	637	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2206006 rs757147265	637	A>V		No	ClinGen ExAC gnomAD
CA2206008 rs767456254	639	T>I		No	ClinGen ExAC TOPMed gnomAD
rs767456254 CA2206007	639	T>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	639	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760113108 CA2206010	640	V>L		No	ClinGen ExAC TOPMed gnomAD
CA2206009 rs760113108	640	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1166483412 CA351311229	642	I>V		No	ClinGen TOPMed gnomAD
rs368061198 CA2206011	643	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs368061198 CA351311236	643	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA2206012 rs758774838	646	I>T		No	ClinGen ExAC gnomAD
CA2206014 rs747336055	647	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs371891730 CA2206040	651	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA351311400 rs1390003173	653	S>G		No	ClinGen gnomAD
rs1214496836 CA351311404	653	S>N		No	ClinGen TOPMed
CA2206042 rs377273030	654	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA351311427 rs773087029	654	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA351311459 rs1575453776	656	M>R		No	ClinGen Ensembl
rs1005044855 CA68134945	657	L>P		No	ClinGen Ensembl
CA2206044 rs760541896	658	G>C		No	ClinGen ExAC gnomAD
CA351311480 rs1186477745	658	G>D		No	ClinGen TOPMed gnomAD
rs1016397008 CA68134953	660	F>I		No	ClinGen Ensembl
CA2206078 VAR_014443 rs2975766	666	I>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1167527541 CA351312162	667	M>I		No	ClinGen gnomAD
rs376583576 CA68135360	667	M>T		No	ClinGen ESP TOPMed gnomAD
TCGA novel	668	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351312225 rs1354616159	669	V>A		No	ClinGen gnomAD
rs748199944 CA2206079	670	M>T		No	ClinGen ExAC gnomAD
rs1377088756 CA351312286	671	K>E		No	ClinGen TOPMed
rs1290693222 CA351312304	671	K>T		No	ClinGen TOPMed
rs1291773759 CA351312327	672	T>I		No	ClinGen gnomAD

1 associated diseases with Q9HC96

[MIM: 601283]: Diabetes mellitus, non-insulin-dependent, 1 (NIDDM1)

A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000269|PubMed:11017071, ECO:0000269|PubMed:16721485}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

Without disease ID

A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000269|PubMed:11017071, ECO:0000269|PubMed:16721485}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

8 regional properties for Q9HC96

Type	Name	Position	InterPro Accession
active_site	Cysteine peptidase, cysteine active site	67 - 78	IPR000169
domain	Peptidase C2, calpain, catalytic domain	2 - 329	IPR001300
domain	Peptidase C2, calpain, large subunit, domain III	344 - 486	IPR022682-1
domain	Peptidase C2, calpain, large subunit, domain III	520 - 642	IPR022682-2
domain	Peptidase C2, calpain, domain III	338 - 494	IPR022683-1
domain	Peptidase C2, calpain, domain III	513 - 654	IPR022683-2
domain	Calpain subdomain III	335 - 496	IPR033883-1
domain	Calpain subdomain III	512 - 653	IPR033883-2

Functions

		Description
EC Number
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 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.
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.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

3 GO annotations of molecular function

Name	Definition
calcium-dependent cysteine-type endopeptidase activity	Catalysis of the hydrolysis of nonterminal peptide bonds in a polypeptide chain by a mechanism using a cysteine residue at the enzyme active center, and requiring the presence of calcium.
cytoskeletal protein binding	Binding to a protein component of a cytoskeleton (actin, microtubule, or intermediate filament cytoskeleton).
SNARE binding	Binding to a SNARE (soluble N-ethylmaleimide-sensitive factor attached protein receptor) protein.

9 GO annotations of biological process

Name	Definition
actin cytoskeleton reorganization	A process that is carried out at the cellular level which results in dynamic structural changes to the arrangement of constituent parts of cytoskeletal structures comprising actin filaments and their associated proteins.
cellular component disassembly involved in execution phase of apoptosis	The breakdown of structures such as organelles, proteins, or other macromolecular structures during apoptosis.
cellular response to insulin stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms.
positive regulation of glucose import	Any process that activates or increases the frequency, rate or extent of the import of the hexose monosaccharide glucose into a cell or organelle.
positive regulation of insulin secretion	Any process that activates or increases the frequency, rate or extent of the regulated release of insulin.
positive regulation of intracellular transport	Any process that activates or increases the frequency, rate or extent of the directed movement of substances within cells.
positive regulation of type B pancreatic cell apoptotic process	Any process that activates or increases the frequency, rate or extent of type B pancreatic cell apoptotic process.
proteolysis	The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds.
type B pancreatic cell apoptotic process	Any apoptotic process in a type B pancreatic cell, a cell located towards center of the islets of Langerhans that secretes insulin.

19 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q27970	CAPN1	Calpain-1 catalytic subunit	Bos taurus (Bovine)	PR
Q27971	CAPN2	Calpain-2 catalytic subunit	Bos taurus (Bovine)	PR
P00789		Calpain-1 catalytic subunit	Gallus gallus (Chicken)	PR
Q9VXH6	CalpC	Calpain-C	Drosophila melanogaster (Fruit fly)	PR
P07384	CAPN1	Calpain-1 catalytic subunit	Homo sapiens (Human)	PR
O14815	CAPN9	Calpain-9	Homo sapiens (Human)	PR
Q6MZZ7	CAPN13	Calpain-13	Homo sapiens (Human)	PR
O35350	Capn1	Calpain-1 catalytic subunit	Mus musculus (Mouse)	PR
G3UZ78	Adgb	Androglobin	Mus musculus (Mouse)	PR
O08529	Capn2	Calpain-2 catalytic subunit	Mus musculus (Mouse)	PR
Q9D805	Capn9	Calpain-9	Mus musculus (Mouse)	PR
Q3UW68	Capn13	Calpain-13	Mus musculus (Mouse)	PR
Q9ESK3	Capn10	Calpain-10	Mus musculus (Mouse)	PR
P35750	CAPN1	Calpain-1 catalytic subunit	Sus scrofa (Pig)	PR
P43367	CAPN2	Calpain-2 catalytic subunit	Sus scrofa (Pig)	PR
O35920	Capn9	Calpain-9	Rattus norvegicus (Rat)	PR
P97571	Capn1	Calpain-1 catalytic subunit	Rattus norvegicus (Rat)	PR
Q5BK10	Capn13	Calpain-13	Rattus norvegicus (Rat)	PR
Q07009	Capn2	Calpain-2 catalytic subunit	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MRAGRGATPA	RELFRDAAFP	AADSSLFCDL	STPLAQFRED	ITWRRPQEIC	ATPRLFPDDP
70	80	90	100	110	120
REGQVKQGLL	GDCWFLCACA	ALQKSRHLLD	QVIPPGQPSW	ADQEYRGSFT	CRIWQFGRWV
130	140	150	160	170	180
EVTTDDRLPC	LAGRLCFSRC	QREDVFWLPL	LEKVYAKVHG	SYEHLWAGQV	ADALVDLTGG
190	200	210	220	230	240
LAERWNLKGV	AGSGGQQDRP	GRWEHRTCRQ	LLHLKDQCLI	SCCVLSPRAG	ARELGEFHAF
250	260	270	280	290	300
IVSDLRELQG	QAGQCILLLR	IQNPWGRRCW	QGLWREGGEG	WSQVDAAVAS	ELLSQLQEGE
310	320	330	340	350	360
FWVEEEEFLR	EFDELTVGYP	VTEAGHLQSL	YTERLLCHTR	ALPGAWVKGQ	SAGGCRNNSG
370	380	390	400	410	420
FPSNPKFWLR	VSEPSEVYIA	VLQRSRLHAA	DWAGRARALV	GDSHTSWSPA	SIPGKHYQAV
430	440	450	460	470	480
GLHLWKVEKR	RVNLPRVLSM	PPVAGTACHA	YDREVHLRCE	LSPGYYLAVP	STFLKDAPGE
490	500	510	520	530	540
FLLRVFSTGR	VSLSAIRAVA	KNTTPGAALP	AGEWGTVQLR	GSWRVGQTAG	GSRNFASYPT
550	560	570	580	590	600
NPCFPFSVPE	GPGPRCVRIT	LHQHCRPSDT	EFHPIGFHIF	QVPEGGRSQD	APPLLLQEPL
610	620	630	640	650	660
LSCVPHRYAQ	EVSRLCLLPA	GTYKVVPSTY	LPDTEGAFTV	TIATRIDRPS	IHSQEMLGQF
670
LQEVSIMAVM	KT