AiPD: Autoinhibited Protein Database

Q6ZN16

Gene name	MAP3K15 (ASK3)
Protein name	Mitogen-activated protein kinase kinase kinase 15
Names	EC 2.7.11.25 , Apoptosis signal-regulating kinase 3 , MAPK/ERK kinase kinase 15 , MEK kinase 15 , MEKK 15
Species	Homo sapiens (Human)
KEGG Pathway	hsa:389840
EC number	2.7.11.25: Protein-serine/threonine kinases
Protein Class

Descriptions

Apoptosis signal-regulating kinases (ASK1-3) are MAP3Ks that trigger cellular responses to redox stress and inflammatory cytokines and play vital roles in innate immunity and viral infection. When activated, ASK1?3 activates JNK and p38 via phosphorylation of MAP2Ks (MKK3/4/6/7). ASK1?3 shares a conserved architecture in which the central kinase domain is flanked on either side by additional domains, and multimeric association appears to be crucial to the activity of these domains. Regulatory factors, such as thioredoxin, associate with the N-terminal thioredoxin-binding domain to negatively regulate activity. Activity can be induced by oxidation, thioredoxin dissociation, or TRAF association (among other stimuli), at which point the activating pleckstrin homology surface becomes available for MAP2K association, activation loop priming, and phosphorylation.

Autoinhibitory domains (AIDs)

58-237 (Thioredoxin-binding domain) SS

Target domain	652-908 (Protein kinase domain)
Relief mechanism	Partner binding, Others
Assay

AID

58-237 (Thioredoxin-binding domain)

Target domain

652-908 (Protein kinase domain)

Relief mechanism

Partner binding (thioredoxin dissociation or TRAF association), Others (Oxidation)

Assay

Accessory elements

791-814 (Activation loop from InterPro)

Target domain	652-908 (Protein kinase domain)
Relief mechanism
Assay

791-814 (Activation loop from InterPro)

Target domain	652-908 (Protein kinase domain)
Relief mechanism
Assay

References

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

Weijman JF et al. (2017) "Structural basis of autoregulatory scaffolding by apoptosis signal-regulating kinase 1", Proceedings of the National Academy of Sciences of the United States of America, 114, E2096-E2105

Zhang R et al. (2004) "Thioredoxin-2 inhibits mitochondria-located ASK1-mediated apoptosis in a JNK-independent manner", Circulation research, 94, 1483-91

Hatai T et al. (2000) "Execution of apoptosis signal-regulating kinase 1 (ASK1)-induced apoptosis by the mitochondria-dependent caspase activation", The Journal of biological chemistry, 275, 26576-81

Seong HA et al. (2011) "Positive regulation of apoptosis signal-regulating kinase 1 signaling by ZPR9 protein, a zinc finger protein", The Journal of biological chemistry, 286, 31123-35

Maruyama T et al. (2014) "Roquin-2 promotes ubiquitin-mediated degradation of ASK1 to regulate stress responses", Science signaling, 7, ra8

Autoinhibited structure

Activated structure

2 structures for Q6ZN16

Entry ID	Method	Resolution	Chain	Position	Source
6V0M	X-ray	180 A	A/B/C	1241-1308	PDB
AF-Q6ZN16-F1	Predicted				AlphaFoldDB

1018 variants for Q6ZN16

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001166982 rs778062708 CA10363359	1232	P>A	Pyruvate dehydrogenase E1-alpha deficiency [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs15943 RCV001166981 VAR_040728 CA10363348 RCV000430059	1251	Q>E	Pyruvate dehydrogenase E1-alpha deficiency [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA412495009 rs1335896137	4	G>R		No	ClinGen TOPMed
rs1265407890 CA412495000	5	G>D		No	ClinGen TOPMed
CA412495001 rs1225904878	5	G>S		No	ClinGen TOPMed gnomAD
CA327406167 rs1041842228	6	G>R		No	ClinGen TOPMed
rs1225209367 CA412494970	10	A>T		No	ClinGen TOPMed
rs1292695297 CA412494944	14	G>E		No	ClinGen TOPMed
rs113126019 CA327406166	16	A>G		No	ClinGen Ensembl
CA412494936 rs1482854182	16	A>T		No	ClinGen TOPMed
CA412494907 rs1284762730	20	P>S		No	ClinGen gnomAD
CA327406165 rs945805634	21	Q>E		No	ClinGen TOPMed
rs1448815279 CA412494878	24	P>L		No	ClinGen TOPMed gnomAD
rs1234945987 CA412494871	25	P>L		No	ClinGen TOPMed gnomAD
CA412494865 rs1426255554	26	P>L		No	ClinGen TOPMed
rs1369796869 CA412494835	31	A>E		No	ClinGen TOPMed
rs1460143738 CA412494827	32	A>V		No	ClinGen TOPMed
CA327406163 rs976452422	38	D>N		No	ClinGen TOPMed
CA412494781 rs1381238011	40	A>T		No	ClinGen TOPMed
rs1281598957 CA412494776	40	A>V		No	ClinGen gnomAD
rs1213670099 CA412494770	41	A>V		No	ClinGen gnomAD
rs771203031 CA10364377	43	G>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	45	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1414337775 CA412494734	47	G>A		No	ClinGen gnomAD
CA412494731 rs1341966170	48	S>G		No	ClinGen TOPMed
CA412494688 rs1223982658 CA412494687	54	G>R		No	ClinGen gnomAD
rs1223982658 CA412494686	54	G>W		No	ClinGen gnomAD
TCGA novel	55	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA327406161 rs911136448	57	P>S		No	ClinGen TOPMed gnomAD
rs952671859 CA327406159	62	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA412494636 rs1314606733	63	A>E		No	ClinGen gnomAD
CA412494617 rs1464521740	66	V>A		No	ClinGen TOPMed gnomAD
CA412494616 rs1464521740	66	V>E		No	ClinGen TOPMed gnomAD
CA412494620 rs1426565124	66	V>M		No	ClinGen TOPMed
CA412494611 rs1175519940	67	R>H		No	ClinGen gnomAD
rs1357476322 CA412494614	67	R>S		No	ClinGen gnomAD
CA412494603 rs1401496726	68	S>I		No	ClinGen TOPMed gnomAD
CA412494605 rs1401496726	68	S>N		No	ClinGen TOPMed gnomAD
rs1025499625 CA327406158	69	E>K		No	ClinGen TOPMed gnomAD
CA412494590 rs1472440446	70	S>N		No	ClinGen gnomAD
CA412494580 rs1407745790	71	S>F		No	ClinGen TOPMed
rs1258691915 CA412494570	73	G>C		No	ClinGen TOPMed gnomAD
rs749471068 CA10364376	75	A>G		No	ClinGen ExAC gnomAD
rs1361659149 CA412494559	75	A>T		No	ClinGen TOPMed
CA412494549 rs1164381601	76	A>V		No	ClinGen gnomAD
CA412494547 rs1254899293	77	G>R		No	ClinGen gnomAD
rs780969640 CA10364374	79	P>L		No	ClinGen ExAC TOPMed gnomAD
rs780969640 CA327406156	79	P>R		No	ClinGen ExAC TOPMed gnomAD
rs754707908 CA10364373	84	R>P		No	ClinGen ExAC TOPMed gnomAD
CA412494502 rs1335205066	85	Q>*		No	ClinGen TOPMed gnomAD
rs746792764 CA10364372	86	C>*		No	ClinGen ExAC gnomAD
rs1378428802 CA412494473	89	R>L		No	ClinGen gnomAD
CA412494469 rs780108276	90	A>D		No	ClinGen ExAC TOPMed gnomAD
rs780108276 CA10364371	90	A>V		No	ClinGen ExAC TOPMed gnomAD
rs895374109 CA327406154	91	C>S		No	ClinGen TOPMed gnomAD
rs895374109 CA412494464	91	C>Y		No	ClinGen TOPMed gnomAD
CA10364370 rs758239336	92	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1157165078 CA412494458	92	E>V		No	ClinGen TOPMed gnomAD
rs1469904798 CA412494442	94	E>D		No	ClinGen TOPMed
TCGA novel	94	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA327406153 rs1054465189	94	E>K		No	ClinGen TOPMed gnomAD
rs867973144 CA327406152	95	G>C		No	ClinGen Ensembl
CA412494438 rs866103370	95	G>D		No	ClinGen gnomAD
CA327406151 rs866103370	95	G>V		No	ClinGen gnomAD
CA10364367 rs757004787	96	A>P		No	ClinGen ExAC gnomAD
CA10364366 rs753477495	98	L>F		No	ClinGen ExAC TOPMed gnomAD
rs753477495 CA412494422	98	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1253605138 CA412494413	99	T>I		No	ClinGen gnomAD
rs1486540523 CA412494404	101	V>L		No	ClinGen TOPMed gnomAD
CA412494406 rs1486540523	101	V>M		No	ClinGen TOPMed gnomAD
rs868643480 CA327406150	102	P>T		No	ClinGen Ensembl
CA327406148 rs865855873	104	G>V		No	ClinGen Ensembl
CA327406149 rs866746444	104	G>W		No	ClinGen Ensembl
CA327406147 rs866711043	105	E>D		No	ClinGen Ensembl
CA412494382 rs1363169158	105	E>Q		No	ClinGen TOPMed
CA412494353 rs1468690195	109	G>W		No	ClinGen TOPMed gnomAD
CA327406146 rs866314004	110	E>*		No	ClinGen gnomAD
CA412494348 rs866314004	110	E>K		No	ClinGen gnomAD
CA412494335 rs1216289716	112	A>T		No	ClinGen gnomAD
CA10364362 rs761184810	114	L>V		No	ClinGen ExAC gnomAD
rs1395412359 CA412494307	116	A>G		No	ClinGen gnomAD
CA412494306 rs1395412359	116	A>V		No	ClinGen gnomAD
CA327406145 rs867422817	117	F>L		No	ClinGen Ensembl
rs1295518590 CA412494303	117	F>V		No	ClinGen gnomAD
rs1456668678 CA412494289	119	D>N		No	ClinGen gnomAD
rs768115068 CA10364360	120	A>S		No	ClinGen ExAC TOPMed gnomAD
CA412494278 rs1171701407	120	A>V		No	ClinGen gnomAD
CA412494217 rs1378891430	127	M>I		No	ClinGen TOPMed gnomAD
CA412494220 rs1324637533	127	M>K		No	ClinGen gnomAD
rs911879562 CA327403859	128	S>N		No	ClinGen TOPMed gnomAD
rs1432285061 CA412494205	129	D>Y		No	ClinGen TOPMed gnomAD
rs777604739 CA10364346	134	P>R		No	ClinGen ExAC gnomAD
CA10364347 rs373175786	134	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs755801428 CA10364345	135	S>F		No	ClinGen ExAC gnomAD
CA412494151 rs1273764899	137	F>L		No	ClinGen gnomAD
CA327403857 rs931290479	139	H>R		No	ClinGen TOPMed
CA10364344 rs771785080	140	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs370173616 CA327403856	143	R>*	Variant assessed as Somatic; 0.0001194 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
CA412494116 rs1569241407	143	R>Q		No	ClinGen Ensembl
rs897099409 CA327403855	145	S>G		No	ClinGen TOPMed
TCGA novel	148	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767730993 CA10364343	148	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1231322832 CA412494071	149	A>V		No	ClinGen gnomAD
rs745441268 CA10364342	150	N>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs377434934 CA10364341	150	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA412494047 rs1349036164	153	I>V		No	ClinGen gnomAD
CA10364339 rs373501081	154	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA412494015 rs1196569371	157	D>G		No	ClinGen TOPMed
CA10364337 rs770050936	159	D>N		No	ClinGen ExAC TOPMed gnomAD
rs775388215 CA10364335	162	T>S		No	ClinGen ExAC gnomAD
CA10364334 rs771700881	163	A>G		No	ClinGen ExAC TOPMed gnomAD
CA327403854 rs908078629	163	A>T		No	ClinGen TOPMed gnomAD
rs951136236 CA412493959	166	L>F		No	ClinGen TOPMed gnomAD
CA327403852 rs912353122	166	L>S		No	ClinGen Ensembl
CA412493953 rs1444126445	167	K>T		No	ClinGen gnomAD
CA412493926 rs1473660382	168	D>E		No	ClinGen gnomAD
rs753300066 CA327403607	168	D>G		No	ClinGen gnomAD
rs1174875246 CA412493930	168	D>H		No	ClinGen TOPMed
rs1186773728 CA412493919	169	M>I		No	ClinGen gnomAD
rs771909063 CA10364320	169	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10364318 rs762102865	171	T>N		No	ClinGen ExAC TOPMed gnomAD
CA412493910 rs1325876501	171	T>P		No	ClinGen gnomAD
rs370019474 CA10364317	172	Q>K		No	ClinGen ESP ExAC gnomAD
rs745655024	174	N>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	176	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412398874 rs1190674624	178	S>N		No	ClinGen TOPMed gnomAD
CA412398844 rs1447736881	181	Y>D		No	ClinGen gnomAD
rs1447736881 CA412398845	181	Y>H		No	ClinGen gnomAD
rs5955788 CA327052466	184	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1453655964 CA412398783	186	Y>C		No	ClinGen TOPMed gnomAD
CA10364302 rs758936848	188	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1456187206 CA412398741	190	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs765317585 CA10364300	191	C>G		No	ClinGen ExAC TOPMed gnomAD
rs753951124 CA10364298	191	C>W		No	ClinGen ExAC TOPMed gnomAD
rs5909299 CA412398727	192	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA412398726 rs5909299	192	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_040716 rs5909299 CA10364297	192	A>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	196	C>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10364296 rs774315963	197	C>*		No	ClinGen ExAC TOPMed gnomAD
rs766207184 CA412398659	198	E>K		No	ClinGen ExAC TOPMed gnomAD
rs766207184 CA10364294	198	E>Q		No	ClinGen ExAC TOPMed gnomAD
RCV000950031 rs55916006 CA10364293 VAR_040717	199	S>N		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1410458823 CA412398638	199	S>R		No	ClinGen gnomAD
rs978337441 CA327052396	200	D>E		No	ClinGen TOPMed gnomAD
rs1166655329 CA412398629	200	D>G		No	ClinGen gnomAD
CA10364292 rs371500905	200	D>N		No	ClinGen ESP ExAC gnomAD
rs1246073858 CA412398620	201	A>S		No	ClinGen TOPMed
TCGA novel	202	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1479162886 CA412398588	204	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1245344036 CA412398573	205	A>V		No	ClinGen gnomAD
CA412398559 rs1203670528	207	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA10364287 rs768215913	209	M>K		No	ClinGen ExAC gnomAD
CA10364288 rs776183951	209	M>L		No	ClinGen ExAC TOPMed gnomAD
CA327052388 rs776183951	209	M>V		No	ClinGen ExAC TOPMed gnomAD
CA412398520 rs1220581162	210	Q>*		No	ClinGen TOPMed gnomAD
CA327052376 rs746625461	211	P>A		No	ClinGen ExAC gnomAD
CA10364286 rs746625461	211	P>T		No	ClinGen ExAC gnomAD
CA10364283 rs746220552	212	N>K		No	ClinGen ExAC
CA10364284 rs772368631	212	N>S		No	ClinGen ExAC
CA412398500 rs1321964088	212	N>Y		No	ClinGen Ensembl
rs760488691 CA327052365	215	N>H		No	ClinGen 1000Genomes
CA412398437 rs1409189023	219	P>L		No	ClinGen TOPMed gnomAD
CA412398439 rs1409189023	219	P>Q		No	ClinGen TOPMed gnomAD
CA412398440 rs1306073683	219	P>S		No	ClinGen gnomAD
CA412398430 rs1602330316	221	C>R		No	ClinGen Ensembl
TCGA novel	223	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1602330305 CA412398398	225	V>A		No	ClinGen Ensembl
VAR_040718 rs56338727 CA10364277	226	D>H		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA412398388 rs1172238923	227	R>G		No	ClinGen gnomAD
CA327052357 rs767838624	227	R>S		No	ClinGen ExAC
CA10364275 rs368529898	229	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs368529898 CA10364274	229	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA412398358 rs1254462701	231	L>F		No	ClinGen gnomAD
CA10364272 rs761762087	233	K>N		No	ClinGen ExAC gnomAD
CA10364273 rs765136099	233	K>T		No	ClinGen ExAC TOPMed gnomAD
CA412398332 rs1352866058	235	I>V		No	ClinGen TOPMed
rs903603402 CA327052345	237	V>M		No	ClinGen TOPMed gnomAD
rs1224425924 CA412398298	240	C>S		No	ClinGen TOPMed
rs760248755 CA10364252	241	V>F		No	ClinGen ExAC TOPMed gnomAD
CA412397664 rs760248755	241	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1192346604 CA412397628	242	Y>*		No	ClinGen TOPMed
rs1350864011 CA412397616	243	Y>C		No	ClinGen gnomAD
CA327050203 rs1008707170	243	Y>H		No	ClinGen TOPMed gnomAD
rs377370864 CA327050202	244	K>I		No	ClinGen ESP TOPMed
TCGA novel	245	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1167500197 CA412397555	246	T>S		No	ClinGen gnomAD
CA412397513 rs1422644514	248	L>*		No	ClinGen gnomAD
rs771765755 CA10364250	250	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA327050195 rs868006650	250	D>N		No	ClinGen Ensembl
TCGA novel	250	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774580769 CA10364248	252	R>W		No	ClinGen ExAC TOPMed gnomAD
CA412397389 rs1373927866	253	K>T		No	ClinGen TOPMed
VAR_040719	255	R>S	a lung squamous cell carcinoma sample; somatic mutation [UniProt]	No	UniProt
rs771266179 CA10364247	256	E>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs749600649 CA10364246	257	K>E		No	ClinGen ExAC gnomAD
rs373284737 CA10364245	259	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1219259640 CA412397208	260	G>D		No	ClinGen gnomAD
rs369871140 CA327050136	263	L>M		No	ClinGen ESP TOPMed gnomAD
rs770391906 CA10364244	263	L>P		No	ClinGen ExAC
CA412397132 rs755751423	264	A>E		No	ClinGen ExAC TOPMed gnomAD
rs891217825 CA327050132	264	A>T		No	ClinGen TOPMed gnomAD
rs755751423 CA10364243	264	A>V		No	ClinGen ExAC TOPMed gnomAD
CA412397081 rs1338540459	268	A>T		No	ClinGen TOPMed
CA10364241 rs755282207	269	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10364242 rs781372514	269	R>W		No	ClinGen ExAC gnomAD
rs1238155773 CA412397060	270	I>M		No	ClinGen gnomAD
rs1381915051 CA412397049	271	K>N		No	ClinGen TOPMed gnomAD
CA10364240 rs747188500	273	R>C		No	ClinGen ExAC TOPMed gnomAD
rs757135476 CA10364238	273	R>H		No	ClinGen ExAC TOPMed gnomAD
rs757135476 CA10364239	273	R>L		No	ClinGen ExAC TOPMed gnomAD
CA412397034 rs757135476	273	R>P		No	ClinGen ExAC TOPMed gnomAD
rs866104431 CA327050113	274	M>I		No	ClinGen Ensembl
rs138317599 CA10364237	274	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1365443958 CA412397005	276	N>D		No	ClinGen gnomAD
CA327050112 rs1032741858	278	E>*		No	ClinGen gnomAD
CA412396974 rs1032741858	278	E>K		No	ClinGen gnomAD
TCGA novel	279	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764061183 CA10364236	280	L>V		No	ClinGen ExAC gnomAD
CA10364235 rs756027083	285	I>S		No	ClinGen ExAC gnomAD
rs780474404	286	I>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1569232190 CA412396750	292	Y>F		No	ClinGen Ensembl
rs752230776 CA10364232	292	Y>H		No	ClinGen ExAC
rs371410606 CA10364231	293	R>C		No	ClinGen ESP ExAC gnomAD
CA10364230 rs759121677	293	R>H		No	ClinGen ExAC gnomAD
CA10364229 rs774109206	294	D>V		No	ClinGen ExAC gnomAD
rs952918430 CA412396698	295	I>N		No	ClinGen TOPMed gnomAD
rs952918430 CA327050085	295	I>S		No	ClinGen TOPMed gnomAD
CA412396061 rs1375430459	298	Y>C		No	ClinGen TOPMed
CA327048406 rs970441258	299	D>Y		No	ClinGen Ensembl
rs752569972 CA10364213	300	A>V		No	ClinGen ExAC TOPMed gnomAD
CA412396033 rs1323253988	301	M>L		No	ClinGen gnomAD
CA412396024 rs1308406135	302	V>M		No	ClinGen gnomAD
CA412395997 rs767425175	304	L>P		No	ClinGen ExAC TOPMed gnomAD
CA10364212 rs767425175	304	L>R		No	ClinGen ExAC TOPMed gnomAD
rs192978410 CA10364207	313	T>M		No	ClinGen 1000Genomes ExAC gnomAD
CA412395923 rs1300681167	315	D>N		No	ClinGen gnomAD
CA327048320 rs866132762	317	A>V		No	ClinGen Ensembl
rs1344369513 CA412395892	318	D>G		No	ClinGen TOPMed
rs368664109 CA10364204	318	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1388223026 CA412395862	320	H>R		No	ClinGen gnomAD
rs202245533 CA10364203	322	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs952659828 CA327048303	325	H>L		No	ClinGen TOPMed
rs1034519307 CA327048299	326	Y>H		No	ClinGen Ensembl
CA327048294 rs899323042	327	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs746041327 CA10364199	328	F>S		No	ClinGen ExAC gnomAD
rs906535572 CA327048250	329	A>S		No	ClinGen Ensembl
CA10364198 rs777553980	329	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1015054708 CA327048241	331	N>K		No	ClinGen Ensembl
rs769632326 CA10364197	332	R>T		No	ClinGen ExAC gnomAD
rs1197475119 CA412393140	336	T>I		No	ClinGen TOPMed
CA10364178 rs780914524	338	D>E		No	ClinGen ExAC gnomAD
rs761341022 CA10364177	339	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs761341022 CA10364176	339	R>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs757904260 CA10364174	339	R>H		No	ClinGen ExAC TOPMed gnomAD
CA10364175 rs761341022	339	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA412393046 rs1184994390	342	A>V		No	ClinGen TOPMed
rs749949939 CA10364173	344	Q>E		No	ClinGen ExAC
CA412392996 rs1432508227	345	I>M		No	ClinGen gnomAD
CA412393010 rs1369801782	345	I>V		No	ClinGen TOPMed
CA412392983 rs1602304249	346	M>K		No	ClinGen Ensembl
rs778750334 CA10364172	346	M>V		No	ClinGen ExAC TOPMed gnomAD
CA327034644 rs199556501	347	L>F		No	ClinGen gnomAD
CA412392952 rs1167356836	348	Q>R		No	ClinGen TOPMed
rs1388420390 CA412392939	349	V>A		No	ClinGen gnomAD
CA412392925 rs1424056144	351	Q>E		No	ClinGen TOPMed gnomAD
rs1424056144 CA412392926	351	Q>K		No	ClinGen TOPMed gnomAD
TCGA novel	352	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	352	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA327034636 rs915134912	354	D>G		No	ClinGen TOPMed
rs1190731555 CA412392892	355	H>P		No	ClinGen gnomAD
rs369774710 CA10364170	356	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA10364169 rs764168112	356	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs764168112 CA10364168	356	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs759649993 CA10364165	359	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1222449411 CA412392841	360	M>T		No	ClinGen gnomAD
CA412392821 rs972449437	361	F>L		No	ClinGen gnomAD
rs774390330 CA10364164	361	F>L		No	ClinGen ExAC gnomAD
CA10364162 rs763121183	363	L>V		No	ClinGen ExAC TOPMed gnomAD
CA412392800 rs1229582465	364	C>R		No	ClinGen TOPMed
rs186363224 CA327034562	365	G>W		No	ClinGen 1000Genomes gnomAD
rs771844821 CA10364161	367	I>L		No	ClinGen 1000Genomes ExAC gnomAD
CA412392741 rs1404490119	368	Y>C		No	ClinGen Ensembl
CA10364160 rs768277466	369	K>R		No	ClinGen ExAC gnomAD
CA10364158 rs775327820	372	F>I		No	ClinGen ExAC gnomAD
CA327034521 rs535213693	374	D>G		No	ClinGen TOPMed
rs1419011602 CA412392630	376	D>Y		No	ClinGen gnomAD
rs745426078 CA10364156	378	K>E		No	ClinGen ExAC TOPMed gnomAD
CA10364157 rs745426078	378	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs376514232 CA10364155	378	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1368420453 CA412392585	379	D>G		No	ClinGen gnomAD
rs756971761 CA10364154	379	D>H		No	ClinGen ExAC gnomAD
rs373969675 CA10364153	380	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs373969675 CA412392570	380	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA412392551 rs1254594019	381	T>I		No	ClinGen gnomAD
CA10364151 rs756478544	381	T>P		No	ClinGen ExAC gnomAD
CA327034510 rs753417732	383	R>C		No	ClinGen TOPMed gnomAD
CA10364150 rs201645151	383	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA327034489 rs1029627606	384	D>N		No	ClinGen Ensembl
CA327034472 rs375865981	387	I>V		No	ClinGen ESP
CA412392453 rs1228927548	388	E>D		No	ClinGen gnomAD
CA10364129 rs752013972	391	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10364128 rs368487480	391	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs758512620 CA10364127	392	K>R		No	ClinGen ExAC gnomAD
rs1157533652 CA412391694	393	G>E		No	ClinGen TOPMed gnomAD
rs1157533652 CA412391696	393	G>V		No	ClinGen TOPMed gnomAD
rs757508384 CA327031023	395	E>D		No	ClinGen TOPMed gnomAD
rs753982555 CA412391662	396	L>F		No	ClinGen TOPMed gnomAD
CA327031018 rs753982555	396	L>V		No	ClinGen TOPMed gnomAD
CA412391646 rs1183031632	397	Q>H		No	ClinGen TOPMed gnomAD
TCGA novel	398	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750511196 CA10364126	398	S>P		No	ClinGen ExAC gnomAD
rs765433654 CA10364125	402	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1214975468 CA412391578	404	I>V		No	ClinGen gnomAD
TCGA novel	407	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412391502 rs767378215	411	I>N		No	ClinGen ExAC TOPMed gnomAD
CA10364122 rs767378215	411	I>T		No	ClinGen ExAC TOPMed gnomAD
CA412391489 rs1291951349	412	V>G		No	ClinGen gnomAD
rs759564714 CA327030975	413	A>S		No	ClinGen ExAC gnomAD
rs759564714 CA10364121	413	A>T		No	ClinGen ExAC gnomAD
rs1380722009 CA412391479	413	A>V		No	ClinGen gnomAD
CA412391472 rs1314595511	414	G>E		No	ClinGen TOPMed gnomAD
CA10364120 rs370481675	415	Q>L		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	418	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412391365 rs1396008122	420	S>F		No	ClinGen TOPMed
rs764169055 CA327030930	421	L>S		No	ClinGen TOPMed gnomAD
CA412391316 rs868390976	424	R>K		No	ClinGen gnomAD
CA327030929 rs868390976	424	R>M		No	ClinGen gnomAD
rs929366662 CA327030928	425	K>Q		No	ClinGen TOPMed
CA412391274 rs1602299541	426	I>M		No	ClinGen Ensembl
CA327030607 rs897128113	429	R>G		No	ClinGen TOPMed gnomAD
rs757449532 CA10364107	429	R>L		No	ClinGen ExAC gnomAD
CA412390564 rs757449532	429	R>Q		No	ClinGen ExAC gnomAD
rs762475082 CA10364106	432	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1157583630 CA412390512	433	L>F		No	ClinGen TOPMed
CA412390347 rs1431229792	443	M>V		No	ClinGen gnomAD
CA327030592 rs769457587	444	N>K		No	ClinGen ExAC TOPMed gnomAD
rs546139754 CA412390290	445	N>K		No	ClinGen gnomAD
CA10364103 rs751391076	448	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs138128907 CA327030569	448	D>V		No	ClinGen 1000Genomes
CA10364102 rs374240911	449	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs762884226 CA10364100	451	Q>*		No	ClinGen ExAC gnomAD
CA412390179 rs1366630259	452	F>Y		No	ClinGen TOPMed
CA10364099 rs200274989 RCV000971347	455	V>I		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_040720 CA10364098 rs56212339	456	S>G		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1345367086 CA412390105	456	S>R		No	ClinGen gnomAD
rs1392581571 CA412390086	457	M>I		No	ClinGen gnomAD
CA10364097 rs140553102	457	M>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140553102 CA10364096	457	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10364094 rs747430129	460	H>R		No	ClinGen ExAC gnomAD
rs1466286755 CA412390033	461	D>A		No	ClinGen TOPMed gnomAD
rs1466286755 CA412390031	461	D>G		No	ClinGen TOPMed gnomAD
TCGA novel	462	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412390021 rs1408028445	462	V>I		No	ClinGen gnomAD
CA10364093 rs780336121	463	G>R		No	ClinGen ExAC gnomAD
rs1183943878 CA412389989	464	K>E		No	ClinGen gnomAD
rs1248580410 CA412389969	465	A>P		No	ClinGen gnomAD
CA10364089 rs539064842	466	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1010813273 CA412389942	467	Q>*		No	ClinGen gnomAD
rs1010813273 CA327030483	467	Q>E		No	ClinGen gnomAD
CA412389941 rs1433611535	467	Q>L		No	ClinGen TOPMed
CA412389924 rs1323309433	468	A>V		No	ClinGen gnomAD
rs1180787909 CA412389923	469	A>T		No	ClinGen TOPMed
CA412389886 rs763914956	471	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10364088 rs763914956	471	R>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs778202455 CA10364087	472	L>F		No	ClinGen ExAC
rs1393763276 CA412389864	472	L>W		No	ClinGen gnomAD
rs1160014340 CA412389854	473	F>L		No	ClinGen gnomAD
rs746482839 CA10364086	474	K>R		No	ClinGen ExAC TOPMed gnomAD
rs751407521 CA412389815	475	L>P		No	ClinGen ExAC TOPMed gnomAD
CA10364085 rs751407521	475	L>R		No	ClinGen ExAC TOPMed gnomAD
CA10364084 rs766160104	477	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1461405233 CA412389787	477	P>S		No	ClinGen TOPMed
CA10364083 rs758292274	480	W>L		No	ClinGen ExAC gnomAD
CA412386959 rs1270054619	481	Y>C		No	ClinGen gnomAD
CA10364068 rs777935917	482	L>P		No	ClinGen ExAC
CA10364066 rs748334805	483	R>*		No	ClinGen ExAC TOPMed gnomAD
rs781249134 CA10364065	483	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA412386899 rs1425341351	486	V>F		No	ClinGen gnomAD
CA412386901 rs1425341351	486	V>L		No	ClinGen gnomAD
rs750179824 CA10364063	488	N>S		No	ClinGen ExAC gnomAD
rs753349491 CA412386796	493	R>P		No	ClinGen ExAC gnomAD
rs753349491 CA10364060	493	R>Q		No	ClinGen ExAC gnomAD
CA10364061 rs757126412	493	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs41305349 CA10364059 VAR_040721	494	R>C		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs369494074 CA10364058	494	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs41305349 CA412386790	494	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA327022774 rs759565861	496	K>E		No	ClinGen gnomAD
rs775168508 CA10364057	497	K>E		No	ClinGen ExAC gnomAD
CA10364056 rs767042336	499	I>V		No	ClinGen ExAC gnomAD
CA10364055 rs760008073	500	I>T		No	ClinGen ExAC
rs376497408 CA10364053	501	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1271588451 CA412386666	501	E>G		No	ClinGen TOPMed gnomAD
CA412386652 rs1325678842	502	H>N		No	ClinGen gnomAD
rs1325678842 CA412386654	502	H>Y		No	ClinGen gnomAD
CA412386630 rs372180658	503	S>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs372180658 CA10364052	503	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1426550260 CA412386613	504	P>L		No	ClinGen TOPMed
rs1602287306 CA412386618	504	P>S		No	ClinGen Ensembl
TCGA novel	506	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs190743895 CA412386585	508	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs190743895 CA10364048	508	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs182589249 CA10364049	508	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA412386569 rs1311690664	511	F>V		No	ClinGen Ensembl
rs745688597 CA10364046	514	D>G		No	ClinGen ExAC TOPMed gnomAD
rs778503881 CA10364045	515	I>T		No	ClinGen ExAC gnomAD
TCGA novel	516	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757216066 CA10364044	519	A>P		No	ClinGen ExAC gnomAD
CA10364042 rs777662468	521	N>D		No	ClinGen ExAC gnomAD
CA412386445 rs1221023918	521	N>T		No	ClinGen gnomAD
rs1602287215 CA412386405	523	V>F		No	ClinGen Ensembl
rs755656745 CA10364041	524	T>S		No	ClinGen ExAC TOPMed gnomAD
rs752140028 CA412386384	525	N>D		No	ClinGen ExAC TOPMed gnomAD
CA412386385 rs752140028	525	N>H		No	ClinGen ExAC TOPMed gnomAD
CA10364040 rs752140028	525	N>Y		No	ClinGen ExAC TOPMed gnomAD
rs1311203736 CA412386360	526	G>R		No	ClinGen TOPMed
CA10364038 rs759048123	528	R>T		No	ClinGen ExAC gnomAD
CA10364013 rs765852192	531	V>F		No	ClinGen ExAC TOPMed gnomAD
rs765852192 CA327021717	531	V>I		No	ClinGen ExAC TOPMed gnomAD
CA412386145 rs1410809475	533	V>L		No	ClinGen gnomAD
rs1444256572 CA412386034	534	I>R		No	ClinGen TOPMed
rs1185091863 CA640523070	540	Y>*		No	ClinGen gnomAD
rs1280949691 CA412385982	541	Q>H		No	ClinGen TOPMed
rs768569419 CA10364010	543	S>F		No	ClinGen ExAC gnomAD
rs1459798650 CA412385975	543	S>P		No	ClinGen gnomAD
CA10364009 rs760783894	546	S>P		No	ClinGen ExAC gnomAD
rs772272963 CA10364007	547	I>R		No	ClinGen ExAC gnomAD
CA10364008 rs755428959	547	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs373935936 CA10364006	548	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1315963874 CA412385921	551	A>D		No	ClinGen gnomAD
rs528189297 CA10364005	551	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10364003 rs200566465	552	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10364002 rs185465571	554	R>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA327021678 rs1043093409	557	S>A		No	ClinGen gnomAD
CA10364001 rs754487640	557	S>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA10364000 rs746526595	558	L>*		No	ClinGen ExAC gnomAD
rs779910870 CA10363999	559	W>C		No	ClinGen ExAC gnomAD
CA10363997 rs375345216	561	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs375345216 CA412385859	561	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA412385852 rs1442470722	562	S>A		No	ClinGen gnomAD
VAR_040722	562	S>L	a lung adenocarcinoma sample; somatic mutation [UniProt]	No	UniProt
CA412385846 rs1181417477	563	P>S		No	ClinGen TOPMed
rs1415741228 CA412385836	565	E>K		No	ClinGen TOPMed
rs746515369 CA10363982	567	K>Q		No	ClinGen ExAC gnomAD
rs779638486 CA10363981	569	M>L		No	ClinGen ExAC gnomAD
CA10363979 rs745466888	571	E>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	572	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778684878 CA10363978	575	T>I		No	ClinGen ExAC gnomAD
TCGA novel	576	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10363977 rs757599496	579	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1293579813 CA412385553	580	K>E		No	ClinGen TOPMed
rs971762138 CA327019362	581	G>E		No	ClinGen TOPMed gnomAD
CA327019361 rs954897401	582	I>V		No	ClinGen Ensembl
CA10363959 rs375521492	587	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs145329587 CA10363958	588	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145329587 CA327018179	588	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs778163094 CA10363957	589	E>K		No	ClinGen ExAC TOPMed gnomAD
rs756604817 CA10363956	590	R>T		No	ClinGen ExAC
rs1452990566 CA412384772	595	Y>N		No	ClinGen gnomAD
CA10363955 rs41311501	596	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA327018130 rs901111047	597	H>R		No	ClinGen TOPMed gnomAD
TCGA novel	601	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1395255171 CA412384729	601	D>H		No	ClinGen gnomAD
rs1385527483 CA412384687	606	Y>C		No	ClinGen TOPMed gnomAD
CA412384690 rs1312961878	606	Y>H		No	ClinGen TOPMed
TCGA novel	607	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10363953 rs755117721	610	E>K		No	ClinGen ExAC TOPMed gnomAD
rs911020923 CA327018082	612	Q>P		No	ClinGen Ensembl
CA327018076 rs978927448	613	C>R		No	ClinGen Ensembl
CA327056169 rs778271518	620	V>L		No	ClinGen Ensembl
rs1346716275 CA412410928	623	M>L		No	ClinGen TOPMed
rs139773428 CA10363937	628	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA10363936 rs201997444	630	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA412410833 rs1263123247	630	S>R		No	ClinGen gnomAD
rs555050902 CA10363935	631	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10363932 rs750706947	633	E>G		No	ClinGen ExAC gnomAD
CA10363931 rs779958714	635	E>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	635	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412410725 rs1391158476	638	T>I		No	ClinGen TOPMed
rs752523544 CA10363928	639	D>N		No	ClinGen ExAC TOPMed gnomAD
rs367550537 CA10363926	640	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs367550537 CA10363927	640	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1405600473 CA412410674	642	T>I		No	ClinGen TOPMed gnomAD
CA10363924 rs765965556	643	L>V		No	ClinGen ExAC gnomAD
CA10363923 rs762343042	644	E>K		No	ClinGen ExAC gnomAD
rs764874953 CA10363902	645	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA10363904 rs375445657	645	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10363903 rs375445657	645	Y>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs371275375 CA10363901	646	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA10363900 rs149730374	651	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs769056939 CA10363899	652	N>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	655	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1195375656 CA412410373	656	V>A		No	ClinGen gnomAD
CA10363896 rs772440634	658	L>F		No	ClinGen ExAC gnomAD
rs1021387704 CA327055331	658	L>S		No	ClinGen Ensembl
rs1361230352 CA412410340	659	G>E		No	ClinGen TOPMed
TCGA novel	661	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412410312 rs1376441413	661	G>V		No	ClinGen TOPMed gnomAD
rs375002714 CA10363894	662	T>M		No	ClinGen ESP ExAC gnomAD
rs150554416 CA10363895	662	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA412410275 rs1205958047	664	G>E		No	ClinGen TOPMed
CA412410260 rs1251143209	665	I>M		No	ClinGen TOPMed gnomAD
rs749574457 CA10363892	665	I>T		No	ClinGen ExAC
rs1334128202 CA412410258	666	V>M		No	ClinGen gnomAD
CA10363891 rs778112554	668	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1409601067 CA412410212	669	G>A		No	ClinGen gnomAD
rs866380209 CA327055307	670	R>*		No	ClinGen TOPMed gnomAD
rs755192127 CA327055304	670	R>P		No	ClinGen TOPMed gnomAD
rs755192127 CA412410205	670	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1185153450 CA412410190	671	D>E		No	ClinGen gnomAD
rs1446718596 CA412410195	671	D>G		No	ClinGen TOPMed
rs754872812 CA10363890	672	L>M		No	ClinGen ExAC gnomAD
rs1236801944 CA412410123	676	V>A		No	ClinGen gnomAD
rs1236801944 CA412410125	676	V>E		No	ClinGen gnomAD
CA10363888 rs200759946	677	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
VAR_040723	677	R>Q	a metastatic melanoma sample; somatic mutation [UniProt]	No	UniProt
CA412410099 rs1213214286	678	I>M		No	ClinGen gnomAD
rs201902407 CA10363887	678	I>T	Variant assessed as Somatic; 0.000125 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA412410106 rs1288164115	678	I>V		No	ClinGen TOPMed gnomAD
CA412410072 rs1355056858	681	K>E		No	ClinGen TOPMed
CA327055295 rs1031409891	681	K>R		No	ClinGen TOPMed gnomAD
rs370641677 CA10363885	682	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs761289293 CA10363884	682	E>D		No	ClinGen ExAC gnomAD
rs370641677 CA10363886	682	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA412410047 rs1286667649	683	I>V		No	ClinGen gnomAD
CA412409981 rs1432197468	687	D>E		No	ClinGen TOPMed gnomAD
rs906827784 CA327055289	688	S>G		No	ClinGen gnomAD
rs1252359749 CA412409009	689	R>S		No	ClinGen TOPMed gnomAD
rs887371071 CA327054293	690	Y>F		No	ClinGen TOPMed
rs775068066 CA10363859	691	S>A		No	ClinGen ExAC TOPMed gnomAD
CA327054290 rs11094772	691	S>F		No	ClinGen Ensembl
rs1236045674 CA412408931	695	H>P		No	ClinGen TOPMed
rs766154880 CA10363856	696	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs906943035 CA327054280	701	H>Y		No	ClinGen TOPMed
CA412408821 rs1265108227	702	K>E		No	ClinGen gnomAD
rs1455893941 CA412408814	702	K>R		No	ClinGen TOPMed
rs1243948383 CA412408785	704	L>V		No	ClinGen TOPMed gnomAD
rs11796785 CA327054277	706	H>P		No	ClinGen Ensembl
rs770086835 CA10363855	706	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs748271078 CA10363854	707	R>C		No	ClinGen ExAC TOPMed gnomAD
rs781456790 CA10363853	707	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs748271078 CA412408739	707	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1324889063 CA412408727	708	N>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1324889063 CA412408726	708	N>H		No	ClinGen gnomAD
CA10363852 rs771801157	709	I>V		No	ClinGen ExAC TOPMed
CA10363850 rs146183359	710	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs757128363 CA412408666	711	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1339977528 CA412408682	711	Q>K		No	ClinGen TOPMed
rs753347190 CA10363848	712	Y>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	714	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	714	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA327054255 rs373303039	718	E>G		No	ClinGen ESP TOPMed
CA412408557 rs1255886027	719	N>D		No	ClinGen TOPMed
TCGA novel	719	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752338378 CA10363845	720	G>S		No	ClinGen ExAC TOPMed gnomAD
CA10363844 rs767197008	721	Y>C		No	ClinGen ExAC gnomAD
CA412408509 rs772968513	722	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10363843 rs772968513	722	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA412408490 rs1188957163	723	K>E		No	ClinGen TOPMed
rs1370764495 CA412408477	723	K>N		No	ClinGen TOPMed
CA412408475 rs1178265684	724	I>V		No	ClinGen TOPMed gnomAD
rs1431543721 CA412408449	725	F>C		No	ClinGen TOPMed gnomAD
rs1266908447 CA412408399	728	Q>*		No	ClinGen gnomAD
rs138497684 CA10363842	729	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA10363841 rs767002213	731	G>A		No	ClinGen ExAC gnomAD
rs1459360829 CA412408359	731	G>R		No	ClinGen TOPMed gnomAD
CA327054245 rs867948306	732	G>*		No	ClinGen Ensembl
rs1395454202 CA412407255	736	A>P		No	ClinGen gnomAD
TCGA novel	736	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765768554 CA327053462	737	L>F		No	ClinGen ExAC TOPMed gnomAD
CA10363818 rs765768554	737	L>V		No	ClinGen ExAC TOPMed gnomAD
rs144831156 CA10363817	739	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs1210117056 CA412407172	742	W>R		No	ClinGen TOPMed
rs149411845 CA10363814	744	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA412407134 rs1473322678	744	P>S		No	ClinGen gnomAD
rs774151165 CA10363812	745	M>R		No	ClinGen ExAC gnomAD
CA10363811 rs770760036	748	P>L		No	ClinGen ExAC TOPMed gnomAD
rs978251054 CA327053438	748	P>S		No	ClinGen TOPMed
rs775822591 CA327053425	749	T>I		No	ClinGen 1000Genomes
CA327053426 rs775822591	749	T>K		No	ClinGen 1000Genomes
CA327053424 rs570711046	750	I>V		No	ClinGen Ensembl
rs1390254867 CA412406994	753	Y>H		No	ClinGen TOPMed
CA10363808 rs376022882	754	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA412406955 rs1173582521	755	K>R		No	ClinGen TOPMed
CA10363807 rs747619359	756	Q>E		No	ClinGen ExAC gnomAD
rs758901186 CA10363802	760	G>D		No	ClinGen ExAC gnomAD
rs371775065 CA10363803	760	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA10363801 rs750784800	761	L>V		No	ClinGen ExAC gnomAD
CA412406833 rs1297814073	763	Y>C		No	ClinGen gnomAD
rs1406102428 CA412406774	767	N>H		No	ClinGen gnomAD
rs1457747291 CA412406677	772	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs767752495 CA10363797	774	I>V		No	ClinGen 1000Genomes ExAC TOPMed
rs778219241 CA10363778	777	D>N		No	ClinGen ExAC TOPMed gnomAD
rs754550233 CA10363777	778	N>K		No	ClinGen 1000Genomes ExAC gnomAD
CA10363776 rs200958508	780	L>P		No	ClinGen ExAC TOPMed gnomAD
CA10363775 rs200012394	782	N>K		No	ClinGen ExAC TOPMed gnomAD
rs79798608 CA10363773	786	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10363772 rs147048958	787	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1328153713 CA412406342	790	I>T		No	ClinGen TOPMed
rs1411496286 CA412406324	791	S>F		No	ClinGen TOPMed
rs368657739 CA10363770	792	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1196541709 CA412406250	796	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs768703203 CA10363769	798	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1219857102 CA412406221	798	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA412406227 rs768703203	798	R>S		No	ClinGen ExAC TOPMed gnomAD
rs760272533 CA412406191	800	A>E		No	ClinGen ExAC TOPMed gnomAD
CA10363768 rs760272533	800	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA412406174 rs1207843196	801	G>V		No	ClinGen TOPMed
rs1474358538 CA412406043	810	T>A		No	ClinGen TOPMed gnomAD
CA10363750 rs764129381	811	G>D		No	ClinGen ExAC TOPMed gnomAD
CA10363749 rs760646464	814	Q>K		No	ClinGen ExAC gnomAD
CA412404062 rs1373128055	814	Q>R		No	ClinGen gnomAD
CA412404046 rs1349031504	815	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA10363748 rs374546659	818	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	819	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767103195 CA10363747	820	I>L		No	ClinGen ExAC TOPMed gnomAD
rs1357940139 CA412403967	821	I>T		No	ClinGen TOPMed gnomAD
rs1419810917 CA412403943	823	Q>*		No	ClinGen gnomAD
rs1008173567 CA327047832	823	Q>H		No	ClinGen TOPMed gnomAD
rs1439363312 CA412403925	824	G>A		No	ClinGen TOPMed
rs1439363312 CA412403923	824	G>E		No	ClinGen TOPMed
rs777273513 CA10363745	824	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs141537188 CA327047800	826	R>C		No	ClinGen ESP TOPMed gnomAD
rs770308536 CA10363741	827	G>R		No	ClinGen ExAC gnomAD
CA10363740 rs769150771	828	Y>F		No	ClinGen 1000Genomes ExAC gnomAD
CA327047789 rs113639002	828	Y>H		No	ClinGen Ensembl
CA10363739 rs201577498	830	A>P		No	ClinGen ExAC gnomAD
CA412403851 rs1214805668	831	P>L		No	ClinGen gnomAD
CA412403858 rs1288405594	831	P>T		No	ClinGen gnomAD
rs1230409748 CA412403834	833	D>N		No	ClinGen gnomAD
CA412403819 rs1392970831	834	I>V		No	ClinGen gnomAD
CA412403801 rs1371052584	835	W>*		No	ClinGen TOPMed gnomAD
CA10363736 rs747048982	835	W>R		No	ClinGen ExAC gnomAD
CA412403783 rs1293257563	836	S>Y		No	ClinGen gnomAD
rs56381411 CA10363734 VAR_040724	838	G>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA412403742 rs1295960834	840	T>S		No	ClinGen gnomAD
CA10363733 rs142230993	841	I>V		No	ClinGen ESP ExAC gnomAD
CA10363731 rs755946861	842	I>T		No	ClinGen ExAC gnomAD
rs1369206461 CA412403702	843	E>D		No	ClinGen TOPMed
rs149102079 CA327047762	844	M>T		No	ClinGen ESP TOPMed
rs1417043774 CA412403684	845	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA10363730 rs752721908	846	T>A		No	ClinGen ExAC
rs145004525 CA10363729	850	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA412403617 rs145004525	850	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA10363728 rs759141823	855	G>D		No	ClinGen ExAC gnomAD
CA10363726 rs370530366	856	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs370530366 CA10363727	856	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs780063008 CA10363725	857	P>L		No	ClinGen ExAC TOPMed gnomAD
rs780063008 CA10363724	857	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA327047737 rs867091312	859	A>T		No	ClinGen TOPMed
CA10363722 rs377319600	861	M>V		No	ClinGen ESP ExAC gnomAD
TCGA novel	862	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412403487 rs1312320269	864	V>L		No	ClinGen gnomAD
CA412403488 rs1312320269	864	V>M		No	ClinGen gnomAD
CA10363707 rs762420004	865	G>R		No	ClinGen ExAC gnomAD
CA10363706 rs750147519	866	M>K		No	ClinGen ExAC gnomAD
CA412403476 rs1217043808	866	M>V		No	ClinGen gnomAD
CA412403468 rs1309650872	867	F>L		No	ClinGen gnomAD
rs1448756421 CA412403455	868	K>N		No	ClinGen gnomAD
CA10363705 rs764860702	873	I>N		No	ClinGen ExAC gnomAD
CA412403420 rs764860702	873	I>S		No	ClinGen ExAC gnomAD
CA412403417 rs1297589857	874	P>A		No	ClinGen TOPMed gnomAD
rs1297589857 CA412403418	874	P>T		No	ClinGen TOPMed gnomAD
rs1461533788 CA412403406	875	E>D		No	ClinGen gnomAD
CA10363704 rs144072326	876	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs982988505 CA327044727	878	S>L		No	ClinGen TOPMed
CA10363702 rs373475912	882	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1316690436 CA412403367	882	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	883	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA327044705 rs564201841	883	A>V		No	ClinGen Ensembl
rs1394732267 CA412403339	886	L>F		No	ClinGen TOPMed gnomAD
rs185966397 CA10363699 CA412403317	889	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs748945931 CA10363698	890	E>*		No	ClinGen ExAC TOPMed gnomAD
rs748945931 CA10363697	890	E>K		No	ClinGen ExAC TOPMed gnomAD
CA327044697 rs748945931	890	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs747977861 CA10363695	891	P>R		No	ClinGen ExAC TOPMed gnomAD
rs771219455 CA10363696	891	P>S		No	ClinGen ExAC
CA412403296 rs1483865360	893	P>H		No	ClinGen TOPMed gnomAD
CA412403298 rs1195791449	893	P>S		No	ClinGen gnomAD
CA10363693 rs773851592	894	H>R		No	ClinGen 1000Genomes ExAC
TCGA novel	894	H>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1257181868 CA412403283	895	K>T		No	ClinGen TOPMed gnomAD
CA10363692 rs770297627	896	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10363691 rs369062028	896	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA327044656 rs908440915	898	T>I		No	ClinGen Ensembl
rs1371821860 CA412403253	900	A>D		No	ClinGen TOPMed
rs779967232 CA10363690	904	R>G		No	ClinGen ExAC gnomAD
TCGA novel	905	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412403223 rs1443282188	905	E>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA10363689 rs757964409	905	E>K		No	ClinGen ExAC gnomAD
rs991355154 CA327044644	907	F>C		No	ClinGen TOPMed
rs749881067 CA10363688	910	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1569202266 CA412403172	912	N>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA10363686 rs764876979	914	G>D		No	ClinGen ExAC TOPMed gnomAD
CA327044613 rs1032796753	914	G>S		No	ClinGen TOPMed
rs754249644 CA10363684	918	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10363683 rs143201437	918	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs143201437 CA10363682	918	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs998609662 CA327044595	919	I>M		No	ClinGen TOPMed
CA327044573 rs267606415	921	F>L		No	ClinGen gnomAD
CA412403096 rs1159533787	924	S>*		No	ClinGen gnomAD
TCGA novel	927	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10363659 rs371974908	928	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA10363658 rs369415318	928	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA10363657 rs369415318	928	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1486248285 CA412403059	929	G>S		No	ClinGen TOPMed
rs1184105392 CA412403055	929	G>V		No	ClinGen TOPMed
CA10363651 rs150502510	931	V>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA10363652 rs377079007	931	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA412403042 rs1431274152	932	L>V		No	ClinGen TOPMed
TCGA novel	933	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1393243645 CA412403023	935	P>L		No	ClinGen gnomAD
RCV000432684 rs756780481 CA10363648	935	P>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA412403027 rs756780481	935	P>T		No	ClinGen ExAC TOPMed gnomAD
rs141584781 CA10363647 CA10363646	939	E>D		No	ClinGen ESP ExAC gnomAD
rs1461430611 CA412402994	940	P>H		No	ClinGen gnomAD
CA327044022 rs945776661	940	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA412402989 rs1374626174	941	M>T		No	ClinGen TOPMed
rs755724351 CA10363645	941	M>V		No	ClinGen ExAC gnomAD
rs1172240861 CA412402978	942	A>V		No	ClinGen gnomAD
rs768045215 CA10363643	943	T>S		No	ClinGen ExAC gnomAD
CA412402971 rs1372165438	944	S>G		No	ClinGen gnomAD
CA327043986 rs372431682	944	S>N		No	ClinGen Ensembl
CA10363642 rs755365812	946	S>G		No	ClinGen ExAC gnomAD
rs372490783 CA327043976	946	S>N		No	ClinGen ESP TOPMed
rs766896710 CA10363639	947	E>K		No	ClinGen ExAC gnomAD
CA412402938 rs1259870560	948	H>L		No	ClinGen gnomAD
CA412402931 rs1269834491	949	G>D		No	ClinGen TOPMed gnomAD
rs144340909 CA10363637	949	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1232378667 CA412402924	951	V>I		No	ClinGen TOPMed
rs1373451578 CA412402917	952	S>P		No	ClinGen gnomAD
CA10363635 rs765411035	953	P>A		No	ClinGen ExAC gnomAD
rs1279964678 CA412402894	955	S>F		No	ClinGen TOPMed
rs193102767 CA10363631	956	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10363632 rs185527494	956	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10363633 rs185527494	956	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10363629 rs544540070	957	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA412402870 rs1395054794	959	P>L		No	ClinGen gnomAD
rs765404542 CA327043926	961	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1192810896 CA412402853	962	L>P		No	ClinGen gnomAD
rs777294659 CA10363627	962	L>V		No	ClinGen ExAC TOPMed gnomAD
CA412402843 rs1440024794	964	E>K		No	ClinGen gnomAD
CA327043914 rs1046648600	965	R>M		No	ClinGen TOPMed gnomAD
CA412402824 rs1202276196	966	T>I		No	ClinGen gnomAD
TCGA novel	966	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747844089 CA10363625	967	R>Q		No	ClinGen ExAC gnomAD
CA10363626 rs753749742	967	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10363624 rs138433947	968	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs761766474 CA10363623	969	P>S		No	ClinGen ExAC TOPMed gnomAD
rs751918645 CA10363622	970	R>K		No	ClinGen ExAC TOPMed gnomAD
CA412402802 rs1335668976	971	H>Y		No	ClinGen gnomAD
rs750494093 CA10363620	972	H>Q		No	ClinGen ExAC gnomAD
rs1172568680 CA412402780	974	G>D		No	ClinGen gnomAD
CA10363618 rs765404426	974	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1368619296 CA412402773	975	H>Q		No	ClinGen TOPMed
rs761847445 CA10363617	975	H>R		No	ClinGen ExAC gnomAD
rs1302927757 CA412402778	975	H>Y		No	ClinGen TOPMed
rs1221251953 CA412402769	976	L>F		No	ClinGen TOPMed
CA10363616 rs754122463	976	L>H		No	ClinGen ExAC gnomAD
CA412402770 rs1221251953	976	L>V		No	ClinGen TOPMed
TCGA novel	977	L>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs935780284 CA327043846	977	L>F		No	ClinGen TOPMed gnomAD
CA412402761 rs1469607628	978	S>R		No	ClinGen gnomAD
TCGA novel	980	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs945667957 CA327043433	981	D>G		No	ClinGen TOPMed gnomAD
rs766244558 CA10363594	981	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1569201455 CA412402717	982	E>D		No	ClinGen Ensembl
CA412402723 rs1235750422	982	E>K	Variant assessed as Somatic; 6.338e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA412402722 rs1235750422	982	E>Q		No	ClinGen gnomAD
CA10363592 rs773261137	983	S>G		No	ClinGen ExAC gnomAD
CA412402712 rs1292188901	983	S>T		No	ClinGen gnomAD
rs765208791 CA10363591	987	E>K		No	ClinGen ExAC gnomAD
CA10363590 rs761416092	987	E>V		No	ClinGen ExAC gnomAD
CA10363589 rs141617385	989	R>G		No	ClinGen ESP ExAC gnomAD
CA10363588 rs370633600	989	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA412402675 rs141617385	989	R>W		No	ClinGen ESP ExAC gnomAD
TCGA novel	990	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773988009 CA10363587	990	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10363585 rs56233219 VAR_040725	993	S>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA10363582 rs140883351	995	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	997	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777778994 CA10363580	998	R>K		No	ClinGen ExAC gnomAD
rs376275316 CA327043365	1001	G>S		No	ClinGen ESP TOPMed gnomAD
rs1255881328 CA412402594	1002	L>V		No	ClinGen TOPMed
rs756163795 CA10363579	1005	L>V		No	ClinGen ExAC gnomAD
rs373296139 CA10363578	1006	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA10363577 rs767620765	1007	K>E		No	ClinGen ExAC TOPMed gnomAD
rs964095131 CA327043361	1009	S>G		No	ClinGen Ensembl
rs1198750897 CA412402545	1010	E>K		No	ClinGen gnomAD
rs1308686996 CA412402535	1011	R>C		No	ClinGen gnomAD
CA10363576 rs769380632	1011	R>H		No	ClinGen ExAC gnomAD
rs769380632 CA327043344	1011	R>L		No	ClinGen ExAC gnomAD
rs151009170 CA10363575	1012	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1367846847 CA412402531	1012	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1390454693 CA412402512	1015	L>P		No	ClinGen TOPMed
rs765300512 CA10363574	1017	K>E		No	ClinGen ExAC gnomAD
rs761795801 CA10363573	1019	L>F		No	ClinGen ExAC gnomAD
CA10363572 rs776692322	1022	E>G		No	ClinGen ExAC gnomAD
CA10363569 rs55787622 VAR_040726	1029	N>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA412402405 rs1409658241	1031	Q>*		No	ClinGen gnomAD
rs1275089305 CA412402395	1032	E>*		No	ClinGen gnomAD
CA412402392 rs1173726744	1032	E>V		No	ClinGen TOPMed
rs1358452913 CA412402388	1033	C>R		No	ClinGen TOPMed
rs140332145 CA10363567	1033	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs140332145 CA10363568	1033	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA10363565 rs771448855	1034	V>A		No	ClinGen ExAC gnomAD
CA327042474 rs774409803	1038	S>F		No	ClinGen Ensembl
CA412402325 rs1419954239	1039	E>G		No	ClinGen TOPMed
CA10363535 rs146703002	1039	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs762571463 CA10363533	1045	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	1045	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1045	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1289856239 CA412402274	1047	H>Y		No	ClinGen gnomAD
CA10363531 rs765960183	1049	K>N		No	ClinGen ExAC gnomAD
rs1158935389 CA412402252	1050	Q>K		No	ClinGen gnomAD
CA412402239 rs1185132931	1051	I>M		No	ClinGen gnomAD
CA412402241 rs1419464781	1051	I>T		No	ClinGen gnomAD
CA10363530 rs763312022	1051	I>V		No	ClinGen ExAC gnomAD
rs143293364 CA10363529	1052	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA412402211 rs1227996052	1056	R>T		No	ClinGen gnomAD
TCGA novel	1056	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10363527 rs762279564	1057	D>G		No	ClinGen ExAC gnomAD
rs1351782224 CA412402183	1060	R>C		No	ClinGen TOPMed gnomAD
CA10363526 rs148629355	1060	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA10363525 rs148629355	1060	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA10363524 rs750087419	1062	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA412402161 rs1295252043	1064	H>D		No	ClinGen gnomAD
rs772351791 CA10363522	1065	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs780432569 CA10363523	1065	R>W	Variant assessed as Somatic; 6.249e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA327042388 rs1019348321	1067	M>L		No	ClinGen TOPMed
CA10363521 rs749123059	1068	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1384282925 CA412402130	1069	T>S		No	ClinGen gnomAD
CA10363519 rs200245250	1072	S>P		No	ClinGen ExAC TOPMed gnomAD
rs1288644945 CA412402104	1073	K>R		No	ClinGen gnomAD
TCGA novel	1079	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA327042353 rs781184127	1083	S>L		No	ClinGen ExAC TOPMed gnomAD
CA10363516 rs781184127	1083	S>W		No	ClinGen ExAC TOPMed gnomAD
rs143877870 CA10363515	1087	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs199910687 CA10363514	1087	Q>H		No	ClinGen ExAC gnomAD
rs766052583 CA10363513	1088	I>S		No	ClinGen ExAC TOPMed gnomAD
rs757998863 CA10363512	1092	L>V		No	ClinGen ExAC gnomAD
rs761332697 CA10363508	1094	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs762237886 CA10363509	1094	G>R		No	ClinGen ExAC gnomAD
rs1229969666 CA412401942	1097	D>E		No	ClinGen gnomAD
CA10363507 rs764600201	1097	D>N		No	ClinGen ExAC gnomAD
rs140041575	1098	A>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA10363474 rs776117021	1102	I>M		No	ClinGen ExAC TOPMed gnomAD
rs761211361 CA10363475	1102	I>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1105	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412401881 rs1325613444	1105	N>S		No	ClinGen TOPMed
rs1431250969 CA412401871	1106	H>Q		No	ClinGen TOPMed
rs767744127 CA10363473	1106	H>R		No	ClinGen ExAC gnomAD
TCGA novel	1110	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759683487 CA10363472	1112	W>C		No	ClinGen ExAC gnomAD
rs1602247223 CA412401826	1113	M>V		No	ClinGen Ensembl
rs200671095 CA327042015	1116	M>I		No	ClinGen Ensembl
rs771118792 CA10363470	1116	M>T		No	ClinGen ExAC TOPMed gnomAD
CA10363469 rs752049081	1118	N>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs144031211 CA10363468	1119	I>N		No	ClinGen ESP ExAC gnomAD
CA412401776 rs1393107601	1120	I>L		No	ClinGen gnomAD
CA10363467 rs780351262	1121	R>C		No	ClinGen 1000Genomes ExAC TOPMed
CA412401767 rs1172763347	1121	R>H		No	ClinGen TOPMed gnomAD
rs140104197 CA10363466	1122	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA10363465 rs779965473	1122	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs887751274 CA327041984	1123	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs61740714 CA10363463	1125	Q>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs373928304 CA10363461	1127	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA10363460 rs754172834	1127	A>V		No	ClinGen ExAC gnomAD
CA10363457 rs764898842	1128	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs777561813 CA10363441	1134	E>D		No	ClinGen ExAC gnomAD
CA412401679 rs1329058417	1134	E>V		No	ClinGen gnomAD
rs756604026 CA10363440	1135	L>F		No	ClinGen ExAC gnomAD
CA412401674 rs1453534435	1135	L>P		No	ClinGen TOPMed
CA10363439 rs148312150	1136	R>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA327040686 rs377027094	1136	R>Q		No	ClinGen ESP TOPMed gnomAD
CA412401666 rs1346816456	1137	A>D		No	ClinGen gnomAD
rs781772515 CA10363438	1137	A>T		No	ClinGen ExAC gnomAD
CA412401667 rs1346816456	1137	A>V		No	ClinGen gnomAD
rs1395086883 CA412401641	1140	E>D		No	ClinGen TOPMed gnomAD
rs1165786720 CA412401635	1141	P>L		No	ClinGen TOPMed gnomAD
CA412401611 rs1415970629	1145	T>A		No	ClinGen gnomAD
CA412401596 rs1303012185	1147	G>W		No	ClinGen TOPMed
CA412401589 rs1602245400	1148	V>A		No	ClinGen Ensembl
rs1239189419 CA412401591	1148	V>I		No	ClinGen TOPMed
CA10363434 rs138105109	1150	K>E		No	ClinGen ESP ExAC gnomAD
CA327040680 rs370097132	1150	K>R		No	ClinGen ESP TOPMed
CA412401576 rs370097132	1150	K>T		No	ClinGen ESP TOPMed
CA327040678 rs988090325	1154	E>K		No	ClinGen TOPMed gnomAD
CA10363433 rs201603186	1155	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs760471862 CA10363431	1156	E>K		No	ClinGen ExAC gnomAD
rs1215035447 CA412401515	1158	G>V		No	ClinGen gnomAD
rs1193093159 CA412401504	1160	P>S		No	ClinGen TOPMed
TCGA novel	1161	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1331944995 CA412401498	1161	P>S		No	ClinGen gnomAD
CA412401489 rs1248708927	1162	A>V		No	ClinGen TOPMed
rs771921808 CA10363429	1164	G>R		No	ClinGen ExAC TOPMed gnomAD
CA10363428 rs759563426	1165	P>L		No	ClinGen ExAC gnomAD
CA10363427 rs369366467	1166	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs970523520 CA327040617	1167	Q>K		No	ClinGen Ensembl
rs770538660 CA10363426	1167	Q>R		No	ClinGen ExAC gnomAD
rs1371664763 CA412401457	1168	E>G		No	ClinGen gnomAD
CA10363425 rs748733061	1169	A>P		No	ClinGen ExAC gnomAD
CA327040596 rs763685191	1170	Q>R		No	ClinGen Ensembl
rs769504223 CA10363423	1171	P>S		No	ClinGen ExAC
CA412401418 rs1164149506	1172	H>Y		No	ClinGen gnomAD
CA412401403 rs1421872265	1174	Q>E		No	ClinGen gnomAD
CA412401367 rs1449183471	1179	Q>*		No	ClinGen gnomAD
rs1163559549 CA412401361	1180	L>V		No	ClinGen TOPMed
rs747620273 CA10363419	1182	E>K		No	ClinGen ExAC TOPMed gnomAD
rs780414578 CA10363418	1183	L>F		No	ClinGen ExAC gnomAD
rs894813705 CA327040554	1184	R>G		No	ClinGen Ensembl
TCGA novel	1188	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10363401 rs762556289	1190	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1281522700 CA412400279	1191	L>F		No	ClinGen TOPMed gnomAD
TCGA novel	1193	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412400261 rs772800110	1194	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1231757389	1198	E>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
RCV000238953 rs747607452	1199	R>missing		No	ClinVar dbSNP
CA412400224 rs1199852395	1199	R>K		No	ClinGen TOPMed
rs747607452	1199	R>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA10363397 rs769406340	1199	R>S		No	ClinGen ExAC gnomAD
CA10363396 rs747844024	1200	E>V		No	ClinGen ExAC gnomAD
rs145535604 CA10363391	1201	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA10363390 rs769125014	1202	Q>H		No	ClinGen ExAC gnomAD
rs1315221917 CA412400198	1203	N>D		No	ClinGen gnomAD
rs1555937608 CA10363388	1203	N>K		No	ClinGen Ensembl
rs1364371261 CA412400195	1203	N>S		No	ClinGen TOPMed
TCGA novel	1203	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747281853 CA10363387	1204	L>V		No	ClinGen ExAC gnomAD
CA412400181 rs372854064	1206	R>P		No	ClinGen ESP
CA327034101 rs372854064	1206	R>Q		No	ClinGen ESP
CA327034102 rs774477994	1206	R>W		No	ClinGen TOPMed gnomAD
CA10363386 rs780619318	1207	Q>R		No	ClinGen ExAC gnomAD
rs1161578178 CA412400165	1209	L>V		No	ClinGen TOPMed
rs758795249 CA10363385	1210	E>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs758795249 CA412400161	1210	E>Q		No	ClinGen ExAC gnomAD
CA10363384 rs745964693	1211	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs1180788706 CA412400147	1212	K>Q		No	ClinGen gnomAD
rs1405808921 CA412400132	1214	Q>E		No	ClinGen TOPMed
rs1475350527 CA412400130	1214	Q>P		No	ClinGen gnomAD
CA10363382 rs201314812	1216	L>F		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA10363381 rs149055708	1218	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA412400095 rs764208000	1219	L>F		No	ClinGen ExAC TOPMed gnomAD
rs764208000 CA10363380	1219	L>V		No	ClinGen ExAC TOPMed gnomAD
rs754813662 CA10363379	1220	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1277278348 CA412400074	1222	K>T		No	ClinGen gnomAD
CA327034011 rs952016428	1225	S>L		No	ClinGen TOPMed
CA412400039 rs1602238883	1227	C>G		No	ClinGen Ensembl
CA412399554 rs1296783815	1229	T>R		No	ClinGen TOPMed gnomAD
rs749306111 TCGA novel CA10363360	1230	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC TOPMed gnomAD
rs140380348 CA10363358	1235	P>R		No	ClinGen ESP ExAC gnomAD
CA10363357 rs372102191	1236	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs368526609 CA10363355 CA10363354	1237	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs368526609 CA412399480	1237	G>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA10363353 rs770697702	1238	Q>K		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	1241	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10363352 rs761409953	1241	D>N		No	ClinGen ExAC gnomAD
rs753243729 CA10363351	1242	K>R		No	ClinGen ExAC gnomAD
rs1350886167 CA412399382	1243	E>Q		No	ClinGen TOPMed
rs1569196783	1243	E>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1602237530 CA412399328	1246	D>A		No	ClinGen Ensembl
VAR_040727	1247	W>R	a colorectal adenocarcinoma sample; somatic mutation [UniProt]	No	UniProt
rs760297711 CA327033312	1249	R>P		No	ClinGen ExAC gnomAD
CA10363349 rs760297711	1249	R>Q		No	ClinGen ExAC gnomAD
rs763826263 CA10363350	1249	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1490120645 CA412399228	1252	G>R		No	ClinGen TOPMed
CA412399201 rs1269620396	1253	A>G		No	ClinGen gnomAD
rs1199963490 CA412399211	1253	A>P		No	ClinGen TOPMed
CA412399206 rs1269620396	1253	A>V		No	ClinGen gnomAD
CA10363347 rs772494786	1254	D>E		No	ClinGen ExAC gnomAD
rs1602237430 CA412399135	1256	K>N		No	ClinGen Ensembl
rs759883184 CA10363346	1258	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1269336518 CA412399124	1258	I>V		No	ClinGen TOPMed
TCGA novel	1259	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs989329615 CA327033288	1260	K>M		No	ClinGen Ensembl
CA10363345 rs781517592	1260	K>N		No	ClinGen 1000Genomes ExAC gnomAD
rs1252052240 CA412399111	1260	K>Q		No	ClinGen gnomAD
CA10363332 rs763556279	1262	V>A		No	ClinGen ExAC TOPMed gnomAD
rs144734730 CA10363330	1265	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1207639901 CA412399048	1268	L>V		No	ClinGen TOPMed gnomAD
CA412399038 rs1274425240	1269	S>L		No	ClinGen TOPMed gnomAD
rs752352625 CA10363329	1269	S>P		No	ClinGen ExAC gnomAD
CA327033124 rs750874490	1270	D>Y		No	ClinGen 1000Genomes
TCGA novel	1272	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1272	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412399010 rs1347776986	1273	N>K		No	ClinGen gnomAD
rs370651623 CA327033123	1275	I>M		No	ClinGen Ensembl
rs774659644 CA10363326	1276	T>I		No	ClinGen ExAC gnomAD
rs150957359 CA10363327	1276	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA10363325 rs766893716	1278	E>*		No	ClinGen ExAC gnomAD
rs1371710222 CA412398969	1279	D>E		No	ClinGen TOPMed
rs142533585 CA327033100	1280	L>P		No	ClinGen ESP TOPMed gnomAD
rs977795204 CA327033097	1281	R>K		No	ClinGen TOPMed
rs763409232 CA10363324	1282	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs1369520749 CA412398954	1282	Y>C		No	ClinGen gnomAD
rs1448313019 CA412398949	1283	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA10363322 rs148399187	1284	R>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753516995 CA10363319	1286	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs753516995 CA10363318	1286	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10363320 rs748198804	1286	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1448110764 CA412398915	1288	G>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA412398907 rs1422770856	1289	L>R		No	ClinGen TOPMed
rs1335155853 CA412398911	1289	L>V		No	ClinGen TOPMed gnomAD
CA10363297 rs747270244	1291	C>Y		No	ClinGen ExAC TOPMed
rs1270522443 CA412398863	1292	R>T		No	ClinGen gnomAD
CA10363294 rs1404016169	1293	L>F		No	ClinGen TOPMed
TCGA novel rs766954168 CA10363292	1294	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen 1000Genomes ExAC gnomAD
rs759041463 CA10363291	1295	S>N		No	ClinGen 1000Genomes ExAC
rs147753175 CA10363290	1296	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA10363289 rs756039907	1296	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs778346850 CA327032559	1299	Q>R		No	ClinGen Ensembl
CA10363286 rs61744590	1302	R>K		No	ClinGen ExAC TOPMed gnomAD
CA10363285 rs145675672	1302	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1298642306 CA412398664	1303	A>V		No	ClinGen gnomAD
CA10363283 rs779698506	1307	S>*		No	ClinGen ExAC gnomAD
rs1434269786 CA412398608	1307	S>P		No	ClinGen gnomAD
CA412398587 rs1407334158	1308	E>A		No	ClinGen gnomAD
CA10363281 rs758692867	1311	D>E		No	ClinGen ExAC
rs1602235906 CA412398493	1313	A>V		No	ClinGen Ensembl

4 associated diseases with Q6ZN16

[MIM: 606579]: Vitiligo-associated multiple autoimmune disease 1 (VAMAS1)

A disorder characterized by the association of vitiligo with several autoimmune and autoinflammatory diseases including autoimmune thyroid disease, rheumatoid arthritis and systemic lupus erythematosus. {ECO:0000269|PubMed:17377159}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

[MIM: 615225]: Palmoplantar carcinoma, multiple self-healing (MSPC)

An autosomal dominant disease characterized by keratopathy with neovascularization, bilateral corneal opacification, palmoplantar hyperkeratosis, dyshidrosis, dystrophic nails, and recurrent keratoacanthomas in palmoplantar skin as well as in conjunctival and corneal epithelia. In addition, patients experience a high susceptibility to malignant squamous cell carcinoma. {ECO:0000269|PubMed:23349227, ECO:0000269|PubMed:27662089, ECO:0000269|PubMed:33093214}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 617388]: Autoinflammation with arthritis and dyskeratosis (AIADK)

A disorder characterized by recurrent fever, diffuse skin dyskeratosis, autoinflammation, autoimmunity, arthritis and high transitional B-cell level. Inheritance can be autosomal dominant or autosomal recessive. {ECO:0000269|PubMed:27965258, ECO:0000269|PubMed:30291141, ECO:0000269|PubMed:33731932}. Note=The disease may be caused by variants affecting the gene represented in this entry.

[MIM: 618803]: Respiratory papillomatosis, juvenile recurrent, congenital (JRRP)

An autosomal recessive disease characterized by recurrent growth of papillomas in the respiratory tract, and onset in early childhood. Papillomas are most commonly found in the larynx but may occur anywhere from the mouth to the bronchi. Children typically present within the first years of life with hoarseness or, in more severe cases, respiratory distress or stridor and airway obstruction. JRRP is associated with infection of the upper airway by human papillomaviruses of the alpha genus. The infection is thought to occur by vertical transmission at birth. {ECO:0000269|PubMed:31484767}. Note=The disease may be caused by variants affecting the gene represented in this entry.

Without disease ID

A disorder characterized by the association of vitiligo with several autoimmune and autoinflammatory diseases including autoimmune thyroid disease, rheumatoid arthritis and systemic lupus erythematosus. {ECO:0000269|PubMed:17377159}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
An autosomal dominant disease characterized by keratopathy with neovascularization, bilateral corneal opacification, palmoplantar hyperkeratosis, dyshidrosis, dystrophic nails, and recurrent keratoacanthomas in palmoplantar skin as well as in conjunctival and corneal epithelia. In addition, patients experience a high susceptibility to malignant squamous cell carcinoma. {ECO:0000269|PubMed:23349227, ECO:0000269|PubMed:27662089, ECO:0000269|PubMed:33093214}. Note=The disease is caused by variants affecting the gene represented in this entry.
A disorder characterized by recurrent fever, diffuse skin dyskeratosis, autoinflammation, autoimmunity, arthritis and high transitional B-cell level. Inheritance can be autosomal dominant or autosomal recessive. {ECO:0000269|PubMed:27965258, ECO:0000269|PubMed:30291141, ECO:0000269|PubMed:33731932}. Note=The disease may be caused by variants affecting the gene represented in this entry.
An autosomal recessive disease characterized by recurrent growth of papillomas in the respiratory tract, and onset in early childhood. Papillomas are most commonly found in the larynx but may occur anywhere from the mouth to the bronchi. Children typically present within the first years of life with hoarseness or, in more severe cases, respiratory distress or stridor and airway obstruction. JRRP is associated with infection of the upper airway by human papillomaviruses of the alpha genus. The infection is thought to occur by vertical transmission at birth. {ECO:0000269|PubMed:31484767}. Note=The disease may be caused by variants affecting the gene represented in this entry.

10 regional properties for Q6ZN16

Type	Name	Position	InterPro Accession
domain	CARD domain	1380 - 1463	IPR001315
repeat	Leucine-rich repeat	809 - 830	IPR001611-1
repeat	Leucine-rich repeat	864 - 886	IPR001611-2
repeat	Leucine-rich repeat	921 - 943	IPR001611-3
domain	DAPIN domain	1 - 92	IPR004020
domain	NACHT nucleoside triphosphatase	328 - 637	IPR007111
domain	FIIND domain	1079 - 1364	IPR025307
domain	CARD8/ASC/NALP1, CARD domain	1380 - 1460	IPR033516
domain	NOD2, winged helix domain	567 - 613	IPR041075
domain	NACHT, LRR and PYD domains-containing protein, helical domain HD2	623 - 733	IPR041267

Functions

		Description
EC Number	2.7.11.25	Protein-serine/threonine kinases
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

No GO annotations of cellular component

Name	Definition
No GO annotations for cellular component

4 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
MAP kinase kinase kinase activity	Catalysis of the phosphorylation and activation of a MAP kinase kinase; each MAP kinase kinase can be phosphorylated by any of several MAP kinase kinase kinases.
metal ion binding	Binding to a metal ion.
protein serine kinase activity	Catalysis of the reactions

2 GO annotations of biological process

Name	Definition
cellular response to stress	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 a stimulus indicating the organism is under stress. The stress is usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation).
phosphorylation	The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide.

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O95382	MAP3K6	Mitogen-activated protein kinase kinase kinase 6	Homo sapiens (Human)	SS
Q99683	MAP3K5	Mitogen-activated protein kinase kinase kinase 5	Homo sapiens (Human)	EV
Q9WTR2	Map3k6	Mitogen-activated protein kinase kinase kinase 6	Mus musculus (Mouse)	SS
O35099	Map3k5	Mitogen-activated protein kinase kinase kinase 5	Mus musculus (Mouse)	SS
A2AQW0	Map3k15	Mitogen-activated protein kinase kinase kinase 15	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MESGGGNAPA	GALGAASESP	QCPPPPGVEG	AAGPAEPDGA	AEGAAGGSGE	GESGGGPRRA
70	80	90	100	110	120
LRAVYVRSES	SQGGAAGGPE	AGARQCLLRA	CEAEGAHLTS	VPFGELDFGE	TAVLDAFYDA
130	140	150	160	170	180
DVAVVDMSDV	SRQPSLFYHL	GVRESFDMAN	NVILYHDTDA	DTALSLKDMV	TQKNTASSGN
190	200	210	220	230	240
YYFIPYIVTP	CADYFCCESD	AQRRASEYMQ	PNWDNILGPL	CMPLVDRFIS	LLKDIHVTSC
250	260	270	280	290	300
VYYKETLLND	IRKAREKYQG	EELAKELARI	KLRMDNTEVL	TSDIIINLLL	SYRDIQDYDA
310	320	330	340	350	360
MVKLVETLEM	LPTCDLADQH	NIKFHYAFAL	NRRNSTGDRE	KALQIMLQVL	QSCDHPGPDM
370	380	390	400	410	420
FCLCGRIYKD	IFLDSDCKDD	TSRDSAIEWY	RKGFELQSSL	YSGINLAVLL	IVAGQQFETS
430	440	450	460	470	480
LELRKIGVRL	NSLLGRKGSL	EKMNNYWDVG	QFFSVSMLAH	DVGKAVQAAE	RLFKLKPPVW
490	500	510	520	530	540
YLRSLVQNLL	LIRRFKKTII	EHSPRQERLN	FWLDIIFEAT	NEVTNGLRFP	VLVIEPTKVY
550	560	570	580	590	600
QPSYVSINNE	AEERTVSLWH	VSPTEMKQMH	EWNFTASSIK	GISLSKFDER	CCFLYVHDNS
610	620	630	640	650	660
DDFQIYFSTE	EQCSRFFSLV	KEMITNTAGS	TVELEGETDG	DTLEYEYDHD	ANGERVVLGK
670	680	690	700	710	720
GTYGIVYAGR	DLSNQVRIAI	KEIPERDSRY	SQPLHEEIAL	HKYLKHRNIV	QYLGSVSENG
730	740	750	760	770	780
YIKIFMEQVP	GGSLSALLRS	KWGPMKEPTI	KFYTKQILEG	LKYLHENQIV	HRDIKGDNVL
790	800	810	820	830	840
VNTYSGVVKI	SDFGTSKRLA	GVNPCTETFT	GTLQYMAPEI	IDQGPRGYGA	PADIWSLGCT
850	860	870	880	890	900
IIEMATSKPP	FHELGEPQAA	MFKVGMFKIH	PEIPEALSAE	ARAFILSCFE	PDPHKRATTA
910	920	930	940	950	960
ELLREGFLRQ	VNKGKKNRIA	FKPSEGPRGV	VLALPTQGEP	MATSSSEHGS	VSPDSDAQPD
970	980	990	1000	1010	1020
ALFERTRAPR	HHLGHLLSVP	DESSALEDRG	LASSPEDRDQ	GLFLLRKDSE	RRAILYKILW
1030	1040	1050	1060	1070	1080
EEQNQVASNL	QECVAQSSEE	LHLSVGHIKQ	IIGILRDFIR	SPEHRVMATT	ISKLKVDLDF
1090	1100	1110	1120	1130	1140
DSSSISQIHL	VLFGFQDAVN	KILRNHLIRP	HWMFAMDNII	RRAVQAAVTI	LIPELRAHFE
1150	1160	1170	1180	1190	1200
PTCETEGVDK	DMDEAEEGYP	PATGPGQEAQ	PHQQHLSLQL	GELRQETNRL	LEHLVEKERE
1210	1220	1230	1240	1250	1260
YQNLLRQTLE	QKTQELYHLQ	LKLKSNCITE	NPAGPYGQRT	DKELIDWLRL	QGADAKTIEK
1270	1280	1290	1300	1310
IVEEGYTLSD	ILNEITKEDL	RYLRLRGGLL	CRLWSAVSQY	RRAQEASETK	DKA

Descriptions

Annotation based on sequence homology with Q99683

Autoinhibitory domains (AIDs)

Accessory elements

791-814 (Activation loop from InterPro)

791-814 (Activation loop from InterPro)

References

Autoinhibited structure

Activated structure

2 structures for Q6ZN16

1018 variants for Q6ZN16

4 associated diseases with Q6ZN16

[MIM: 606579]: Vitiligo-associated multiple autoimmune disease 1 (VAMAS1)

[MIM: 615225]: Palmoplantar carcinoma, multiple self-healing (MSPC)

[MIM: 617388]: Autoinflammation with arthritis and dyskeratosis (AIADK)

[MIM: 618803]: Respiratory papillomatosis, juvenile recurrent, congenital (JRRP)

Without disease ID

10 regional properties for Q6ZN16

Functions

No GO annotations of cellular component

4 GO annotations of molecular function

2 GO annotations of biological process

5 homologous proteins in AiPD