AiPD: Autoinhibited Protein Database

O95644

Gene name	NFATC1 (NFAT2, NFATC)
Protein name	Nuclear factor of activated T-cells, cytoplasmic 1
Names	NF-ATc1 , NFATc1 , NFAT transcription complex cytosolic component , NF-ATc , NFATc
Species	Homo sapiens (Human)
KEGG Pathway	hsa:4772
EC number
Protein Class

Descriptions

NFAT1 plays a role in the inducible expression of cytokine genes in T-cells. NFAT transcription factors are highly phosphorylated proteins that are regulated by the calcium-dependent phosphatase calcineurin. NFAT1 is phosphorylated on fourteen conserved phosphoserine residues in its regulatory domain (100-400), thirteen of which are dephosphorylated upon stimulation. Dephosphorylation of all thirteen residues is required to mask a nuclear export signal (NES), causes full exposure of a nuclear localization signal (NLS), and promotes transcriptional activity. Mutations in the serine-rich region (SRR-1, specifically 170-183) enhances the localization of NFAT1 to the nucleus, while the full-length NFAT1 does not move into the nucleus. This represents that the SRR-1 region inhibits the translocation of NFAT1 to the nucleus. In addition, SRR-1 region also regulates the active conformation of NFAT1.

Autoinhibitory domains (AIDs)

168-181 (Serine-rich region, SRR) SS

Target domain	265-267 (NLS)
Relief mechanism	PTM
Assay

AID

168-181 (Serine-rich region, SRR)

Target domain

265-267 (NLS)

Relief mechanism

PTM (Dephosphorylation of phosphoserines in SRR)

Assay

Accessory elements

No accessory elements

References

Okamura H et al. (2000) "Concerted dephosphorylation of the transcription factor NFAT1 induces a conformational switch that regulates transcriptional activity", Molecular cell, 6, 539-50

Autoinhibited structure

Activated structure

4 structures for O95644

Entry ID	Method	Resolution	Chain	Position	Source
1A66	NMR	-	A	414-591	PDB
1NFA	NMR	-	A	416-591	PDB
5SVE	X-ray	260 A	C	384-400	PDB
AF-O95644-F1	Predicted				AlphaFoldDB

1196 variants for O95644

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001997940 rs775904780 RCV003170217	138	D>N	Inborn genetic diseases [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001984086 rs150129624 RCV002608091 COSM1389849	224	G>R	large_intestine Inborn genetic diseases [Cosmic, ClinVar]	Yes	cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs770433284	2	P>S		No	1000Genomes ExAC gnomAD
rs1197394580	3	S>N		No	gnomAD
rs1438896941	5	S>G		No	gnomAD
rs2084998016	6	F>C		No	Ensembl
rs1236067695	6	F>L		No	gnomAD
rs1472616902	7	P>S		No	gnomAD
rs769309552	8	V>A		No	ExAC gnomAD
rs769309552	8	V>D		No	ExAC gnomAD
rs745542348	8	V>I		No	ExAC TOPMed gnomAD
rs866988484	9	P>H		No	TOPMed
rs866988484	9	P>L		No	TOPMed
rs531449949	9	P>S		No	1000Genomes gnomAD
rs1476888078	10	S>C		No	TOPMed gnomAD
rs1476888078	10	S>F		No	TOPMed gnomAD
rs762079349	11	K>N		No	ExAC gnomAD
rs1327804397	12	F>C		No	TOPMed
rs1205294889	13	P>A		No	TOPMed gnomAD
rs768125618	13	P>L		No	ExAC TOPMed gnomAD
rs867383089	14	L>I		No	Ensembl
rs1276093415	14	L>R		No	gnomAD
rs1389290021	15	G>D		No	TOPMed
rs866278289	16	P>H		No	TOPMed gnomAD
rs866278289	16	P>L		No	TOPMed gnomAD
rs866806091	17	A>E		No	gnomAD
rs773604881	17	A>T		No	ExAC TOPMed gnomAD
rs866806091	17	A>V		No	gnomAD
rs766594711	18	A>P		No	ExAC TOPMed gnomAD
rs766594711	18	A>T		No	ExAC TOPMed gnomAD
rs868747018	19	A>E		No	TOPMed gnomAD
rs1337874052	19	A>T		No	TOPMed gnomAD
rs868747018	19	A>V		No	TOPMed gnomAD
rs1340746975	20	V>I		No	gnomAD
rs866240475	21	F>L		No	gnomAD
rs1217954208	22	G>A		No	Ensembl
TCGA novel	22	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs753916536	22	G>R		No	ExAC TOPMed gnomAD
rs753916536	22	G>W		No	ExAC TOPMed gnomAD
rs868814152	23	R>G		No	Ensembl
rs866000968	23	R>I		No	TOPMed
rs866000968	23	R>K		No	TOPMed
rs1247134262	24	G>E		No	TOPMed gnomAD
rs1211978501	24	G>R		No	gnomAD
rs866799063	25	E>*		No	gnomAD
rs866799063	25	E>K		No	gnomAD
rs1269274569	26	T>I		No	TOPMed
COSM5706818	26	T>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs931577659	27	L>*		No	TOPMed gnomAD
rs200319058	27	L>V		No	1000Genomes ExAC TOPMed gnomAD
rs931577659	27	L>W		No	TOPMed gnomAD
rs1373697352	29	P>A		No	TOPMed gnomAD
rs2148110934	29	P>L		No	1000Genomes
rs1373697352	29	P>S		No	TOPMed gnomAD
rs368301514	30	A>T		No	ESP ExAC TOPMed gnomAD
rs777561014	30	A>V		No	ExAC TOPMed gnomAD
rs746980510	31	P>T		No	ExAC TOPMed gnomAD
rs2085001442	32	R>C		No	TOPMed
rs1314484528	32	R>L		No	gnomAD
rs757138346	34	G>C		No	ExAC TOPMed gnomAD
rs757138346	34	G>R		No	ExAC TOPMed gnomAD
rs889464500	35	G>C		No	TOPMed gnomAD
rs200585424 RCV000884123	35	G>D		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs889464500	35	G>S		No	TOPMed gnomAD
rs200585424	35	G>V		No	1000Genomes ESP ExAC TOPMed gnomAD
rs748912134	36	T>P		No	ExAC gnomAD
TCGA novel rs2148111048	37	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes NCI-TCGA
rs900946161	37	M>V		No	TOPMed
rs772326647	38	K>N		No	ExAC TOPMed gnomAD
rs2085002310	40	A>T		No	TOPMed gnomAD
rs773667865	41	E>K		No	ExAC TOPMed gnomAD
rs1282899562	42	E>K		No	1000Genomes TOPMed gnomAD
rs1194449478	43	E>K		No	TOPMed gnomAD
rs1194449478	43	E>Q		No	TOPMed gnomAD
rs776639115	45	Y>C		No	ExAC TOPMed gnomAD
rs776639115	45	Y>S		No	ExAC TOPMed gnomAD
rs1018540326	46	G>D		No	Ensembl
rs764867211	47	Y>C		No	ExAC TOPMed gnomAD
rs764867211	47	Y>F		No	ExAC TOPMed gnomAD
rs1193621698	48	A>T		No	TOPMed
rs763800698	50	S>C		No	ExAC TOPMed gnomAD
rs763800698	50	S>F		No	ExAC TOPMed gnomAD
rs150374931	51	N>K		No	1000Genomes ESP ExAC TOPMed gnomAD
rs780214363 COSM990083	52	V>I	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs199566307	53	S>G		No	TOPMed
rs2085625762	54	P>R		No	Ensembl
rs1336631307	54	P>S		No	TOPMed gnomAD
rs1336631307	54	P>T		No	TOPMed gnomAD
rs755428183	55	A>P		No	ExAC TOPMed gnomAD
rs755428183	55	A>S		No	ExAC TOPMed gnomAD
rs755428183	55	A>T		No	ExAC TOPMed gnomAD
COSM1389843 rs779010195 COSM3147316	57	P>L	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs368504605	59	P>L		No	ESP ExAC TOPMed gnomAD
rs149504014	60	T>M		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1308458299	61	A>P		No	TOPMed gnomAD
rs1308458299	61	A>S		No	TOPMed gnomAD
rs770793812	61	A>V		No	ExAC gnomAD
rs759599683	62	H>P		No	1000Genomes ExAC TOPMed gnomAD
rs759599683	62	H>R		No	1000Genomes ExAC TOPMed gnomAD
rs1351061021	62	H>Y		No	TOPMed gnomAD
rs769824411	63	S>C		No	ExAC TOPMed gnomAD
rs762539999	64	T>I		No	ExAC TOPMed gnomAD
rs775207222	64	T>P		No	ExAC gnomAD
rs762539999	64	T>S		No	ExAC TOPMed gnomAD
rs148104245	66	P>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs148104245	66	P>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs148104245	66	P>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2085627674	66	P>S		No	Ensembl
rs2085628057	67	A>D		No	gnomAD
rs766788174	67	A>S		No	ExAC TOPMed gnomAD
rs766788174	67	A>T		No	ExAC TOPMed gnomAD
rs755515445	68	P>L		No	ExAC TOPMed gnomAD
rs755515445	68	P>Q		No	ExAC TOPMed gnomAD
RCV002178439 VAR_057145 rs1051978	68	P>T		No	ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1429345572	69	C>Y		No	gnomAD
COSM379154 rs2085628605	70	H>Y	lung [Cosmic]	No	cosmic curated TOPMed
rs541110801	71	N>H		No	1000Genomes ExAC gnomAD
rs375567329	71	N>K		No	ESP ExAC TOPMed gnomAD
rs1242944228	72	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
rs1332914990	74	T>I		No	TOPMed gnomAD
rs140711063 RCV001912170	75	S>A		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs140711063	75	S>P		No	1000Genomes ESP ExAC TOPMed gnomAD
COSM5162529	76	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs917805021	76	T>I		No	TOPMed gnomAD
rs1347477231	76	T>P		No	gnomAD
rs143045693	77	P>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs747281122	77	P>S		No	ExAC gnomAD
rs745654274	78	G>A		No	ExAC TOPMed gnomAD
rs745654274	78	G>D		No	ExAC TOPMed gnomAD
rs1192482253	78	G>S		No	gnomAD
rs368242959	79	I>N		No	ESP TOPMed gnomAD
rs368242959	79	I>T		No	ESP TOPMed gnomAD
rs2085630539	80	I>T		No	gnomAD
rs762915766	80	I>V		No	ExAC TOPMed gnomAD
rs2085630621 COSM990084 COSM5706819	81	P>L	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated TOPMed gnomAD
rs773684814	82	P>L		No	ExAC TOPMed gnomAD
COSM3362605 COSM3362604 rs767042185	83	A>V	kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs777043555	84	D>G		No	ExAC gnomAD
rs1001556432	85	H>P		No	Ensembl
rs563565483	85	H>Q		No	1000Genomes ExAC TOPMed gnomAD
COSM3527789 rs899983479 COSM3527788	85	H>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl NCI-TCGA
rs867656716	86	P>L		No	Ensembl
rs765526389	86	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
COSM4841825 COSM4841826 rs372492742	87	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
rs1235410352	87	S>P		No	gnomAD
rs1204690947	88	G>A		No	TOPMed gnomAD
rs1448706208	89	Y>C		No	gnomAD
rs1600617792	89	Y>D		No	Ensembl
rs1291703383	90	G>E		No	gnomAD
rs150029004 COSM990085	90	G>R	endometrium [Cosmic]	No	cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	92	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2085632665	93	L>W		No	TOPMed
rs1299749952	94	D>N		No	TOPMed gnomAD
rs781552559	95	G>C		No	ExAC TOPMed gnomAD
rs781552559	95	G>R		No	ExAC TOPMed gnomAD
rs781552559	95	G>S		No	ExAC TOPMed gnomAD
rs746030514	97	P>S		No	ExAC TOPMed gnomAD
rs373889524	98	A>E		No	ExAC TOPMed gnomAD
rs373889524	98	A>G		No	ExAC TOPMed gnomAD
COSM5154694 rs375266848	98	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
rs373889524	98	A>V		No	ExAC TOPMed gnomAD
rs1324489417	99	G>D		No	gnomAD
rs747602807	100	Y>C		No	ExAC TOPMed gnomAD
rs2148186138	100	Y>D		No	Ensembl
rs747602807	100	Y>S		No	ExAC TOPMed gnomAD
rs368130801	101	F>L		No	ESP ExAC gnomAD
rs1325928172	102	L>F		No	TOPMed gnomAD
rs1325928172	102	L>V		No	TOPMed gnomAD
rs1238566277	103	S>F		No	TOPMed gnomAD
rs772862308	103	S>P		No	ExAC TOPMed gnomAD
rs1600618130	104	S>C		No	Ensembl
rs765614580	104	S>P		No	ExAC gnomAD
rs763559651	105	G>S		No	ExAC TOPMed gnomAD
rs1281398591	107	T>A		No	TOPMed gnomAD
COSM990087	108	R>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1248108505	109	P>T		No	gnomAD
rs1436971180	110	D>H		No	gnomAD
rs1436971180	110	D>N		No	gnomAD
rs757297699	112	A>P		No	ExAC TOPMed gnomAD
rs1473943568	113	P>A		No	gnomAD
TCGA novel	114	A>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs767640160	116	E>G		No	ExAC TOPMed gnomAD
COSM5499935 rs750703895 COSM5499936	119	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs756354611	120	I>V		No	ExAC gnomAD
COSM990088 rs1329795534	121	E>K	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs1352556345	122	I>L		No	TOPMed gnomAD
rs1352556345	122	I>V		No	TOPMed gnomAD
COSM3796531 COSM3796532 rs2085637181	124	S>L	Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs1311905465	124	S>T		No	TOPMed
rs755006401	125	C>Y		No	ExAC TOPMed gnomAD
rs2085637803	126	L>F		No	TOPMed gnomAD
rs2085637695	126	L>S		No	TOPMed
rs970586383	127	G>S		No	TOPMed
rs1338516335	129	Y>F		No	gnomAD
rs2085638593	131	N>S		No	TOPMed
rs1196096070	132	N>S		No	TOPMed gnomAD
rs772662282	133	N>S		No	ExAC gnomAD
rs1186669190	134	Q>E		No	gnomAD
rs2148186693	134	Q>L		No	Ensembl
rs1475880385	137	H>Y		No	gnomAD
rs1192820902	138	D>E		No	Ensembl
rs775904780	138	D>Y		No	ExAC TOPMed gnomAD
rs763214352	139	V>G		No	ExAC gnomAD
rs1461853148	139	V>L		No	gnomAD
rs1461853148	139	V>M		No	gnomAD
COSM5187341	140	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1265376867	140	E>K		No	gnomAD
COSM3970636 COSM3970635	141	V>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	142	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	143	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2085640277	143	D>Y		No	TOPMed
COSM4073452 rs769008406 COSM4073453	144	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
COSM3527792 COSM3527793	146	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1356197913	147	S>I		No	gnomAD
rs1293360917	149	K>R		No	gnomAD
rs767725943	150	R>P		No	ExAC gnomAD
rs767725943	150	R>Q		No	ExAC gnomAD
rs372145541	150	R>W		No	ESP TOPMed gnomAD
rs761017145	151	S>C		No	ExAC gnomAD
rs1209749777	152	P>A		No	gnomAD
rs778700466	154	T>A		No	ExAC gnomAD
COSM3821764 COSM1389844 rs752605795	154	T>M	Variant assessed as Somatic; MODERATE impact. large_intestine breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs1306838900	155	A>T		No	Ensembl
rs1270862883	155	A>V		No	TOPMed gnomAD
COSM5987553 rs746521176 COSM5987552	156	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs1433189710	158	S>I		No	gnomAD
rs1433189710	158	S>N		No	gnomAD
COSM4073454 COSM4073455	158	S>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	161	S>A	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs919979149	161	S>R		No	TOPMed gnomAD
rs1463299910	162	L>P		No	gnomAD
rs1463299910	162	L>Q		No	gnomAD
rs1463299910	162	L>R		No	gnomAD
COSM4845173 COSM4845172	163	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs780721421 RCV001954457	164	A>G		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs374777070	164	A>T		No	ESP TOPMed gnomAD
rs745459148	165	Y>H		No	ExAC gnomAD
rs1568924602	168	P>S		No	TOPMed gnomAD
rs751291857	169	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
rs1382685257	169	S>P		No	gnomAD
rs2085644004	173	P>A		No	gnomAD
rs773492030	173	P>L		No	ExAC gnomAD
rs773492030	173	P>R		No	ExAC gnomAD
rs1313575202 COSM1389845	174	A>T	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs1213093305	174	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1259597905	175	S>G		No	1000Genomes TOPMed gnomAD
rs538981258	175	S>T		No	1000Genomes ExAC TOPMed gnomAD
rs1209927294	177	L>V		No	gnomAD
rs1164717628	179	S>C		No	TOPMed gnomAD
rs759761115	180	R>G		No	ExAC TOPMed gnomAD
rs1032564535	180	R>Q		No	TOPMed gnomAD
rs759761115	180	R>W		No	ExAC TOPMed gnomAD
rs1395985277	183	N>K		No	gnomAD
rs2085645274	186	A>D		No	TOPMed
rs1157069267	187	S>A		No	TOPMed gnomAD
rs1187540236	188	S>F		No	gnomAD
rs764993036	189	Y>C		No	ExAC TOPMed gnomAD
rs764993036	189	Y>S		No	ExAC TOPMed gnomAD
rs1322484987 COSM5099309 COSM1389846	190	E>K	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs2085646154	191	S>C		No	TOPMed
rs1429792250	192	N>Y		No	gnomAD
rs2085646483	193	Y>C		No	TOPMed
rs758398122	193	Y>H		No	ExAC TOPMed gnomAD
rs2085646702	194	S>L		No	TOPMed
rs1568924908	194	S>P		No	Ensembl
rs145272516	195	Y>H		No	ESP ExAC TOPMed gnomAD
rs769462513	196	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs745532494	196	P>T		No	ExAC gnomAD
rs180800829	198	A>T		No	1000Genomes ExAC TOPMed gnomAD
COSM4073457 COSM4073456 rs773868340	198	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs770946518	199	S>C		No	ExAC gnomAD
rs1472963163	201	Q>E		No	TOPMed gnomAD
rs776721713	201	Q>H		No	ExAC gnomAD
rs1472963163	201	Q>K		No	TOPMed gnomAD
rs759719115 COSM4706639 COSM4706638	202	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs759719115	202	T>R		No	ExAC TOPMed gnomAD
rs1439674164	205	W>*		No	gnomAD
rs573464704	205	W>R		No	1000Genomes ExAC gnomAD
rs762750331	206	Q>K		No	ExAC gnomAD
rs1295115387	206	Q>P		No	TOPMed gnomAD
rs749915403	210	V>E		No	ExAC gnomAD
rs62096875	210	V>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs62096875	210	V>M		No	1000Genomes ESP ExAC TOPMed gnomAD
rs779739532	212	P>R		No	ExAC gnomAD
rs973201983	213	K>N		No	Ensembl
rs2085649408	214	T>S		No	TOPMed
rs2085649597	215	T>M		No	Ensembl
rs370689438	216	D>N		No	ESP TOPMed
rs1255532273	217	P>A		No	gnomAD
rs919191782	218	E>K		No	TOPMed gnomAD
rs919191782	218	E>Q		No	TOPMed gnomAD
COSM3527794 rs2148188049 COSM3527795	219	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs2085650345	222	P>A		No	gnomAD
COSM3527796 COSM3527797	222	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs745948316	223	R>C		No	ExAC TOPMed gnomAD
rs745948316	223	R>G		No	ExAC TOPMed gnomAD
rs769706337	223	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs763901789	224	G>E		No	ExAC gnomAD
rs774112618	227	A>S		No	ExAC TOPMed gnomAD
rs1568925376	227	A>V		No	Ensembl
rs1285308530	228	C>R		No	gnomAD
rs1381966515	229	T>I		No	TOPMed gnomAD
rs1381966515	229	T>K		No	TOPMed gnomAD
rs2085651461	229	T>P		No	Ensembl
rs138594934	230	L>Q		No	ESP ExAC gnomAD
rs138594934	230	L>R		No	ESP ExAC gnomAD
rs12605457	231	L>M		No	Ensembl
rs765740454	232	G>D		No	ExAC gnomAD
rs1063669	232	G>R		No	TOPMed gnomAD
rs1063669	232	G>S		No	TOPMed gnomAD
rs753575733	234	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1390597692	235	R>Q		No	TOPMed gnomAD
COSM4706641 rs149308374 COSM4706640	235	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs61731547	236	H>D		No	gnomAD
rs2085653105	236	H>P		No	Ensembl
rs1209690341	236	H>Q		No	gnomAD
TCGA novel	237	S>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2085653278	237	S>P		No	Ensembl
rs781729756	238	P>S		No	ExAC TOPMed gnomAD
rs2085653646	240	T>I		No	Ensembl
TCGA novel	240	T>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs746294561	241	S>L		No	ExAC TOPMed
rs746294561	241	S>W		No	ExAC TOPMed
COSM3891368 COSM3891367	242	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs367859795	243	R>C		No	ESP ExAC TOPMed gnomAD
rs749564813	243	R>H		No	ExAC TOPMed gnomAD
rs1366389032	244	A>S		No	TOPMed gnomAD
rs1366389032	244	A>T		No	TOPMed gnomAD
rs761651755	245	S>G		No	ExAC TOPMed gnomAD
rs2085654587	245	S>N		No	Ensembl
rs936847795	246	V>A		No	TOPMed gnomAD
COSM708824 rs773206226	246	V>I	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs773206226	246	V>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1445314737	248	E>K		No	gnomAD
rs766008884	249	E>K		No	ExAC TOPMed gnomAD
rs1248506319	250	S>N		No	gnomAD
rs1466094411	251	W>*		No	gnomAD
rs1382084717	252	L>P		No	TOPMed gnomAD
rs1394164653	253	G>D		No	TOPMed gnomAD
rs1568925747	254	A>S		No	Ensembl
TCGA novel	254	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs370687286	255	R>C		No	ESP ExAC TOPMed gnomAD
rs201418973	255	R>H		No	1000Genomes ExAC TOPMed gnomAD
rs752233957	257	S>C		No	ExAC TOPMed gnomAD
rs752233957	257	S>F		No	ExAC TOPMed gnomAD
rs757645105	259	P>L		No	ExAC TOPMed gnomAD
rs757645105	259	P>R		No	ExAC TOPMed gnomAD
rs1320480949	259	P>S		No	TOPMed gnomAD
rs139169385	260	A>T		No	ESP ExAC TOPMed gnomAD
rs756559983	260	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1276782906	261	S>C		No	TOPMed gnomAD
rs560797460	262	P>H		No	1000Genomes ExAC TOPMed gnomAD
COSM4706643 COSM4706642 rs560797460	262	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs560797460	262	P>R		No	1000Genomes ExAC TOPMed gnomAD
rs1002173789	263	C>F		No	TOPMed
rs772832610	263	C>G		No	ExAC TOPMed gnomAD
rs1252178216	264	N>I		No	TOPMed gnomAD
rs1252471188	264	N>K		No	TOPMed
rs1252178216	264	N>S		No	TOPMed gnomAD
rs2085657828	268	Y>C		No	TOPMed gnomAD
rs2085657752	268	Y>H		No	Ensembl
rs1200559391	269	S>G		No	TOPMed gnomAD
rs112028090	269	S>N		No	Ensembl
rs776340539	270	L>F		No	ExAC TOPMed gnomAD
rs367845640	271	N>K		No	1000Genomes ESP ExAC TOPMed gnomAD
rs201979657	272	G>S		No	ExAC TOPMed gnomAD
COSM3796534 COSM3796533	273	R>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs750725995	273	R>Q		No	ExAC TOPMed gnomAD
rs767978252	273	R>W		No	ExAC TOPMed gnomAD
rs372719440	275	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP NCI-TCGA TOPMed gnomAD
rs372719440	275	P>Q		No	ESP TOPMed gnomAD
COSM6083965 COSM6083964	276	P>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs754282214	276	P>R		No	ExAC TOPMed gnomAD
rs780523781	276	P>S		No	ExAC TOPMed gnomAD
rs1254972147	277	Y>C		No	gnomAD
rs2085659476	278	S>L		No	TOPMed
rs778924284	278	S>P		No	ExAC
rs1331195397	280	H>Q		No	TOPMed gnomAD
rs1463826942	280	H>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
COSM5137181	281	H>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1272404625	281	H>Q		No	gnomAD
rs1483282504	281	H>R		No	TOPMed gnomAD
rs748423480	281	H>Y		No	ExAC TOPMed gnomAD
rs758525737	282	S>L		No	ExAC TOPMed gnomAD
rs758525737	282	S>W		No	ExAC TOPMed gnomAD
rs2085660345	283	P>H		No	TOPMed gnomAD
rs776714980	284	T>M		No	ExAC TOPMed gnomAD
rs371345641	285	P>L		No	ExAC TOPMed gnomAD
rs371345641	285	P>Q		No	ExAC TOPMed gnomAD
rs371345641	285	P>R		No	ExAC TOPMed gnomAD
rs200533002 COSM3692204 RCV001249239 COSM3692203	287	P>L	large_intestine [Cosmic]	No	cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs200962841	288	H>Q		No	ExAC TOPMed gnomAD
COSM3371115 COSM3371114 rs754370015	289	G>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
COSM3527799 COSM3527798	290	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1429315986	291	P>L		No	gnomAD
rs1352420129	292	R>G		No	TOPMed gnomAD
rs752685843	292	R>Q		No	ExAC TOPMed gnomAD
rs1352420129	292	R>W		No	TOPMed gnomAD
rs1311999321	293	V>I		No	gnomAD
rs150655822	294	S>I		No	ESP ExAC TOPMed gnomAD
rs150655822	294	S>T		No	ESP ExAC TOPMed gnomAD
rs139882199	295	V>M		No	ESP ExAC TOPMed gnomAD
rs1205458938	296	T>A		No	gnomAD
rs76525142 RCV000882061	297	D>N		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs775134547	298	D>N		No	ExAC gnomAD
rs201850664	299	S>L		No	1000Genomes ExAC TOPMed gnomAD
rs201850664	299	S>W		No	1000Genomes ExAC TOPMed gnomAD
rs776957817	301	L>F		No	ExAC gnomAD
rs766752297	301	L>M		No	ExAC gnomAD
rs1169469094	302	G>C		No	TOPMed gnomAD
rs1169469094	302	G>S		No	TOPMed gnomAD
rs1372634583	304	T>N		No	gnomAD
rs760075023	305	T>I		No	ExAC TOPMed gnomAD
rs760075023	305	T>S		No	ExAC TOPMed gnomAD
rs753191158	306	Q>E		No	ExAC gnomAD
rs758415279	306	Q>R		No	ExAC gnomAD
rs764193594	308	T>A		No	ExAC TOPMed gnomAD
rs2085663934	308	T>S		No	Ensembl
rs1364210830	309	S>R		No	TOPMed gnomAD
rs751853939 COSM1217177	310	S>L	large_intestine [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs2085664390	311	A>T		No	TOPMed
rs1345282183	312	I>F		No	gnomAD
COSM5571202 rs750241981 COSM5571203	313	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs779866756	315	A>S		No	ExAC gnomAD
VAR_036529 rs779866756 COSM32844	315	A>T	large_intestine a colorectal cancer sample; somatic mutation [Cosmic, UniProt]	No	cosmic curated UniProt ExAC dbSNP gnomAD
rs1464778587	317	N>D		No	gnomAD
rs185183720	317	N>K		No	1000Genomes ESP ExAC TOPMed gnomAD
rs749180270	317	N>S		No	ExAC gnomAD
rs577696155	318	A>T		No	1000Genomes ExAC TOPMed gnomAD
rs1175576794	318	A>V		No	TOPMed gnomAD
rs2085665595	320	T>I		No	TOPMed
rs777045447	321	T>S		No	ExAC gnomAD
rs369082822	322	D>N		No	ESP ExAC TOPMed gnomAD
rs2148189988	323	S>R		No	1000Genomes
rs373106314	324	S>I		No	1000Genomes ESP ExAC TOPMed gnomAD
rs763469572	325	L>V		No	ExAC gnomAD
rs2085666330	328	G>E		No	TOPMed gnomAD
rs764130481	329	D>N		No	ExAC TOPMed gnomAD
rs2148190076	330	G>V		No	Ensembl
COSM1217174 rs767841094	331	V>I	oesophagus large_intestine [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs755862259	332	P>L		No	ExAC gnomAD
rs750618372	332	P>S		No	ExAC gnomAD
rs1026397243	333	V>D		No	Ensembl
rs978216736	335	S>Y		No	TOPMed
rs1209792563	336	R>C		No	TOPMed gnomAD
rs779856148	336	R>H		No	ExAC TOPMed gnomAD
rs779856148	336	R>L		No	ExAC TOPMed gnomAD
rs575130142	339	T>I		No	1000Genomes ExAC gnomAD
rs1600622729	339	T>P		No	Ensembl
rs575130142	339	T>S		No	1000Genomes ExAC gnomAD
rs2085667960	340	L>V		No	TOPMed
rs924224430	343	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs2085668210	344	P>L		No	TOPMed
rs1457678916	345	S>A		No	TOPMed gnomAD
COSM5035287 COSM5035286 rs771768091	345	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs746634884	347	A>V		No	ExAC gnomAD
rs1325430036	348	L>R		No	TOPMed gnomAD
rs2085669307	351	E>A		No	TOPMed gnomAD
rs1389224316	351	E>Q		No	gnomAD
rs775901642	352	P>A		No	ExAC TOPMed gnomAD
rs371505851	352	P>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs775901642	352	P>S		No	ExAC TOPMed gnomAD
rs775901642	352	P>T		No	ExAC TOPMed gnomAD
rs774632735	353	V>F		No	ExAC TOPMed gnomAD
rs374020270	353	V>G		No	ESP TOPMed
rs774632735	353	V>I		No	ExAC TOPMed gnomAD
rs774632735	353	V>L		No	ExAC TOPMed gnomAD
rs767635830	354	G>R		No	ExAC TOPMed gnomAD
rs1600623128	356	D>G		No	Ensembl
TCGA novel	356	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2085670256	356	D>Y		No	TOPMed gnomAD
rs143975184	357	L>M		No	ESP ExAC TOPMed gnomAD
RCV002105194 rs143975184	357	L>V		No	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs760898446	358	G>D		No	ExAC gnomAD
rs377681261	359	S>G		No	ESP ExAC TOPMed gnomAD
rs1209558635	359	S>I		No	Ensembl
rs1209558635	359	S>N		No	Ensembl
rs377681261	359	S>R		No	ESP ExAC TOPMed gnomAD
rs1251219000	359	S>R		No	TOPMed gnomAD
rs753637451	360	P>A		No	ExAC gnomAD
rs1184280843	360	P>L		No	gnomAD
rs753637451	360	P>S		No	ExAC gnomAD
rs754937987	361	P>L		No	ExAC TOPMed gnomAD
rs754937987	361	P>Q		No	ExAC TOPMed gnomAD
TCGA novel	361	P>R	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs754937987	361	P>R		No	ExAC TOPMed gnomAD
rs2085671564	361	P>S		No	TOPMed
rs1351294201	362	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs757935883	362	P>T		No	ExAC gnomAD
rs372110997	363	P>L		No	1000Genomes ExAC TOPMed gnomAD
rs777217481	363	P>S		No	ExAC gnomAD
COSM4073461 COSM4073460	364	A>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM1259055 rs1228160944	365	D>N	oesophagus [Cosmic]	No	cosmic curated TOPMed gnomAD
rs144894927	366	F>L		No	ESP ExAC TOPMed gnomAD
rs181064956	367	A>P		No	1000Genomes ExAC TOPMed gnomAD
rs181064956	367	A>S		No	1000Genomes ExAC TOPMed gnomAD
rs181064956	367	A>T		No	1000Genomes ExAC TOPMed gnomAD
COSM5131966 rs367652299 COSM1389852	367	A>V	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs776345067	369	E>G		No	ExAC gnomAD
rs1235708427 COSM3147388 COSM3147389	369	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs1568927379	370	D>G		No	Ensembl
rs1568927412	371	Y>C		No	Ensembl
rs151234177	371	Y>D		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1568927412	371	Y>F		No	Ensembl
rs1568927412	371	Y>S		No	Ensembl
rs141310123	372	S>F		No	ESP ExAC TOPMed gnomAD
rs141310123	372	S>Y		No	ESP ExAC TOPMed gnomAD
rs757200440 RCV001879089	373	S>missing		No	ClinVar dbSNP
rs548916996	374	F>C		No	1000Genomes ExAC TOPMed gnomAD
rs1370784262	374	F>L		No	TOPMed gnomAD
rs548916996	374	F>S		No	1000Genomes ExAC TOPMed gnomAD
rs756921193	375	Q>H		No	ExAC TOPMed gnomAD
rs780915769	376	H>Q		No	ExAC TOPMed gnomAD
rs745449379	377	I>F		No	ExAC TOPMed gnomAD
rs745449379	377	I>V		No	ExAC TOPMed gnomAD
rs899202080	378	R>G		No	gnomAD
rs1303892505	378	R>S		No	gnomAD
rs899202080	378	R>W		No	gnomAD
rs1226566668	380	G>C		No	TOPMed gnomAD
rs1226566668	380	G>S		No	TOPMed gnomAD
rs1374927657	381	G>D		No	TOPMed
rs146992531	381	G>S		No	ESP ExAC TOPMed gnomAD
rs2085676166	385	Q>R		No	TOPMed gnomAD
rs2148191088	386	Y>S		No	Ensembl
rs199736877	388	A>E		No	1000Genomes ESP ExAC TOPMed gnomAD
rs199736877	388	A>G		No	1000Genomes ESP ExAC TOPMed gnomAD
rs199736877 COSM5500224 COSM5500225	388	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs776916137	390	P>L		No	ExAC TOPMed gnomAD
rs372345100	391	Q>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs866281675	392	H>P		No	gnomAD
rs2085677063	392	H>Y		No	TOPMed
rs775236204	393	P>L		No	ExAC TOPMed gnomAD
rs2085677359	393	P>S		No	Ensembl
rs1170407308	394	Y>C		No	TOPMed gnomAD
rs762946877	396	W>G		No	ExAC gnomAD
rs201530582	397	A>E		No	1000Genomes ExAC TOPMed gnomAD
rs764008108	397	A>T		No	ExAC TOPMed gnomAD
rs201530582 RCV000888028	397	A>V		No	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs199859549	398	K>N		No	ExAC gnomAD
rs2148191289	399	P>S		No	Ensembl
rs2085678151	400	K>R		No	TOPMed gnomAD
rs2085678375	401	P>L		No	TOPMed gnomAD
rs570950086	401	P>S		No	1000Genomes ExAC TOPMed gnomAD
rs570950086	401	P>T		No	1000Genomes ExAC TOPMed gnomAD
rs200663312 RCV000974482	402	L>P		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1264456924	402	L>V		No	TOPMed
rs747406753	403	S>C		No	ExAC gnomAD
rs747406753	403	S>F		No	ExAC gnomAD
rs781111342	404	P>L		No	ExAC TOPMed gnomAD
rs781111342	404	P>R		No	ExAC TOPMed gnomAD
COSM3527800 rs771065897 COSM3527801	404	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs1207925375	405	T>A		No	TOPMed gnomAD
rs746130678	405	T>M		No	1000Genomes ExAC TOPMed gnomAD
rs775324687	406	S>F		No	ExAC gnomAD
rs2085679879	407	Y>C		No	gnomAD
rs1293356162	408	M>L		No	gnomAD
rs1293356162	408	M>V		No	gnomAD
rs770586090	409	S>R		No	ExAC gnomAD
COSM6034859 rs201990048 COSM75595	410	P>L	ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs201990048 RCV001893030	410	P>R		No	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1600699637	411	T>P		No	Ensembl
rs1319758688	413	P>S		No	gnomAD
rs1333361421	414	A>T		No	TOPMed gnomAD
rs563079501	416	D>E		No	1000Genomes ExAC TOPMed gnomAD
rs1340847526	416	D>G		No	TOPMed gnomAD
rs1340847526	416	D>V		No	TOPMed gnomAD
TCGA novel	417	W>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs376239885	420	P>L		No	ESP ExAC TOPMed gnomAD
rs1228550919	421	S>Y		No	gnomAD
rs756595272	422	H>L		No	ExAC TOPMed gnomAD
rs756595272 RCV001864059	422	H>R		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs530515037	425	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs530515037	425	P>R		No	1000Genomes ExAC TOPMed gnomAD
rs147023412	425	P>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs777661745	426	Y>*		No	ExAC gnomAD
rs1246478854	426	Y>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs770988746	429	R>Q		No	ExAC TOPMed gnomAD
COSM3742700 rs1336972395 COSM3742699	429	R>W	liver Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed
rs2086673830	430	I>T		No	TOPMed gnomAD
rs769284409	431	E>D		No	ExAC gnomAD
rs1402804012	431	E>K		No	gnomAD
rs1428625363	436	S>A		No	gnomAD
rs267605262	436	S>F		No	Ensembl
rs2277714	437	H>Y		No	gnomAD
rs1364144350	438	H>Q		No	TOPMed gnomAD
rs1600699932	438	H>R		No	Ensembl
rs1568956445	439	R>*		No	Ensembl
rs775039112	439	R>Q		No	ExAC gnomAD
rs1600699979	441	H>P		No	Ensembl
rs1568956472	441	H>Q		No	Ensembl
rs1231889762	442	Y>D		No	gnomAD
rs772478365	443	E>D		No	ExAC gnomAD
rs1324870185	443	E>K		No	TOPMed gnomAD
COSM4706656 COSM1389853 rs2086675561	444	T>M	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated TOPMed
rs1189458863	445	E>A		No	gnomAD
rs773530535	445	E>D		No	ExAC gnomAD
rs1464681651	445	E>K		No	gnomAD
COSM3821766 COSM3821765	446	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1198222532	448	R>W		No	gnomAD
TCGA novel	450	A>G	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
COSM4073464 COSM4073465	450	A>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM4706657 COSM4706658	450	A>P	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs766854798	450	A>S		No	ExAC TOPMed gnomAD
rs766854798	450	A>T		No	ExAC TOPMed gnomAD
rs759537183	451	V>M		No	ExAC TOPMed gnomAD
TCGA novel	453	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs878884894	454	S>A		No	Ensembl
rs376057065	454	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs1385783700	455	A>T		No	gnomAD
rs2144668103	456	G>A		No	Ensembl
COSM3527802 COSM3527803	456	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1346790005	456	G>R		No	TOPMed gnomAD
rs1266705220	458	H>L		No	TOPMed gnomAD
COSM1494122	458	H>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1266705220	458	H>P		No	TOPMed gnomAD
rs751387254	458	H>Y		No	ExAC TOPMed gnomAD
rs1044338317	460	I>L		No	TOPMed gnomAD
rs1209425007	461	V>L		No	TOPMed gnomAD
rs1209425007 COSM1165412	461	V>M	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs2086677808	462	Q>K		No	Ensembl
rs1480679972	463	L>V		No	TOPMed
rs1428303808	464	H>L		No	gnomAD
rs1428303808	464	H>R		No	gnomAD
rs1228105698	466	Y>C		No	gnomAD
rs1228105698	466	Y>S		No	gnomAD
rs775803764	468	E>K		No	ExAC TOPMed gnomAD
rs367668226	471	P>L		No	ESP ExAC TOPMed gnomAD
rs367668226	471	P>Q		No	ESP ExAC TOPMed gnomAD
rs2087329026	474	L>V		No	gnomAD
TCGA novel	475	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs774739021	476	L>I		No	ExAC gnomAD
rs2087329730	478	I>L		No	TOPMed
rs1482836683	478	I>T		No	TOPMed gnomAD
rs1183946063	479	G>E		No	gnomAD
COSM4706660 COSM4706659 rs202124742	480	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes NCI-TCGA TOPMed
rs146472413 RCV002015066	481	A>V		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1357915999	483	D>E		No	gnomAD
rs561603204	483	D>N		No	1000Genomes ExAC TOPMed gnomAD
rs375389433	484	R>C		No	ESP ExAC TOPMed gnomAD
rs778343943	484	R>H		No	ExAC gnomAD
rs375389433	484	R>S		No	ESP ExAC TOPMed gnomAD
rs747845185	485	L>V		No	ExAC gnomAD
rs758037357 COSM4073466 COSM4073467	487	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs139150912	487	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs139150912	487	R>L		No	ESP ExAC TOPMed gnomAD
rs2087332040	488	P>L		No	gnomAD
rs2087331940	488	P>S		No	Ensembl
COSM4393144 COSM4393145	490	A>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2087332393	490	A>T		No	Ensembl
rs1264794605	493	Q>E		No	gnomAD
rs768909329	493	Q>H		No	ExAC TOPMed gnomAD
TCGA novel	494	V>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs774544804	496	R>C		No	ExAC TOPMed gnomAD
rs1242324944	496	R>H		No	gnomAD
rs762196524	497	I>V		No	ExAC gnomAD
rs2087333467	498	T>R		No	TOPMed gnomAD
rs1188915463	500	K>N		No	gnomAD
TCGA novel	500	K>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs767761398	501	T>A		No	ExAC TOPMed gnomAD
rs2087333997	501	T>I		No	Ensembl
TCGA novel	501	T>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs766045377	502	V>M		No	ExAC TOPMed gnomAD
rs754885725	504	T>A		No	ExAC gnomAD
rs754885725	504	T>P		No	ExAC gnomAD
rs2087335016	505	T>I		No	TOPMed
rs2087335016	505	T>N		No	TOPMed
rs764766298	505	T>P		No	ExAC TOPMed gnomAD
rs1600743013	507	H>D		No	TOPMed
TCGA novel	507	H>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs752198328	507	H>R		No	ExAC gnomAD
rs1600743013	507	H>Y		No	TOPMed
rs2087335765	508	E>*		No	TOPMed
rs2144766363	508	E>G		No	Ensembl
rs2087335765 COSM3527805 COSM3527804	508	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic TOPMed
rs1366950521	509	A>T		No	gnomAD
rs2087336258	511	L>F		No	TOPMed
rs1326882517	512	S>F		No	gnomAD
rs2087336681	514	T>S		No	TOPMed gnomAD
rs1274066755	517	L>P		No	TOPMed
rs2087337145	518	E>K		No	TOPMed
rs191173939	519	I>M		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2087337423	520	P>L		No	TOPMed
rs1480437515	522	L>Q		No	gnomAD
rs1200856303	523	P>L		No	TOPMed gnomAD
rs539802400 COSM382047	525	N>K	lung [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs773511532	526	S>G		No	ExAC gnomAD
rs2087338409	526	S>N		No	Ensembl
rs760762417	527	M>L		No	ExAC TOPMed gnomAD
rs2087338776	527	M>R		No	Ensembl
rs760762417	527	M>V		No	ExAC TOPMed gnomAD
rs1321754340	528	R>L		No	TOPMed gnomAD
rs1321754340	528	R>P		No	TOPMed gnomAD
rs1321754340	528	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs2087339508	530	V>A		No	TOPMed
rs759537615	530	V>I		No	ExAC TOPMed gnomAD
rs749311127	531	I>V		No	ExAC gnomAD
rs768461276	532	D>E		No	ExAC
rs1461991171	533	C>Y		No	gnomAD
COSM3796535 COSM3796536	535	G>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2087447045	539	L>F		No	TOPMed
rs2087447147	540	R>*		No	TOPMed gnomAD
TCGA novel	541	N>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2087447411	544	I>T		No	Ensembl
rs781365067	547	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs1337186033 COSM5183016	547	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl NCI-TCGA
rs1175539728	548	K>E		No	gnomAD
rs1285605233	550	E>K		No	TOPMed gnomAD
COSM262392 rs2144781496	551	T>M	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs1310487342	553	I>T		No	TOPMed gnomAD
rs540388869	553	I>V		No	1000Genomes ExAC gnomAD
TCGA novel	554	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2087448699	554	G>R		No	Ensembl
COSM283232	556	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs377417236	559	R>Q		No	ESP ExAC gnomAD
rs1297126024	559	R>W		No	TOPMed gnomAD
rs781225456	560	V>L		No	ExAC
rs1222224258	561	R>Q		No	gnomAD
rs989895573	561	R>W		No	Ensembl
rs200857818	563	V>G		No	ExAC gnomAD
rs749047671	564	F>I		No	ExAC gnomAD
rs1485679561	564	F>L		No	gnomAD
rs749047671	564	F>V		No	ExAC gnomAD
rs1169771500	565	R>C		No	TOPMed
TCGA novel	565	R>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs768427825	565	R>H		No	ExAC TOPMed
rs768427825	565	R>P		No	ExAC TOPMed
rs748053148	566	V>G		No	ExAC
COSM3147429 rs774191442 COSM3147428	566	V>I	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs141454060	567	H>Q		No	ESP ExAC TOPMed gnomAD
rs2144781803	567	H>Y		No	Ensembl
rs772820554	568	V>F		No	ExAC TOPMed gnomAD
rs772820554	568	V>I		No	ExAC TOPMed gnomAD
rs760472941	569	P>L		No	ExAC TOPMed gnomAD
rs776289930	571	P>L		No	ExAC gnomAD
rs752108452	573	G>D		No	ExAC TOPMed gnomAD
rs73007698	573	G>S		No	1000Genomes ESP ExAC TOPMed gnomAD
COSM1259054 rs371130873	574	R>C	oesophagus [Cosmic]	No	cosmic curated ESP ExAC gnomAD
rs147615148	574	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs147615148	574	R>L		No	1000Genomes ExAC TOPMed gnomAD
rs750486382	575	T>A		No	ExAC gnomAD
rs756125243	575	T>M		No	ExAC TOPMed gnomAD
rs2087452402 COSM3527807 COSM3527806	577	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic TOPMed
rs1291703845	580	V>L		No	TOPMed gnomAD
rs1228552338	581	A>D		No	TOPMed gnomAD
rs1240046748	582	S>T		No	gnomAD
rs748138818	583	N>D		No	ExAC gnomAD
rs772133204	584	P>L		No	ExAC gnomAD
rs2087453404	588	S>P		No	TOPMed
TCGA novel	590	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM3692205 COSM3692206 rs2087480448	590	R>H	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated TOPMed
rs1315926388	596	P>L		No	gnomAD
rs2144786594	600	K>E		No	Ensembl
rs1385153065	601	Q>H		No	gnomAD
rs370530437	603	T>M		No	ESP ExAC TOPMed gnomAD
rs1600754335	603	T>P		No	Ensembl
rs766412965	604	D>G		No	ExAC gnomAD
rs759736807	606	Y>C		No	ExAC TOPMed gnomAD
rs745816383	607	P>L		No	ExAC TOPMed gnomAD
COSM990091 rs202141532	609	V>M	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs2087482610	611	G>R		No	TOPMed
rs1173368720	612	K>R		No	gnomAD
rs751491124	613	K>N		No	ExAC gnomAD
rs757213074	615	V>A		No	ExAC TOPMed gnomAD
rs757213074	615	V>D		No	ExAC TOPMed gnomAD
rs958013702	615	V>I		No	TOPMed
COSM990092	616	L>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2144787048	617	S>P		No	Ensembl
COSM708822	618	G>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1269709830	620	N>D		No	gnomAD
rs572688512	620	N>S		No	1000Genomes ExAC gnomAD
rs779708051	621	F>L		No	ExAC TOPMed gnomAD
rs1568979046	623	Q>R		No	Ensembl
rs1322632406	624	D>H		No	TOPMed gnomAD
rs1322632406	624	D>N		No	TOPMed gnomAD
rs1322632406	624	D>Y		No	TOPMed gnomAD
rs1347118515	626	K>R		No	gnomAD
rs150197760	627	V>I		No	ESP ExAC TOPMed gnomAD
rs747539233	628	I>V		No	ExAC gnomAD
rs771458413	629	F>L		No	ExAC TOPMed gnomAD
rs201065601	630	V>L		No	1000Genomes TOPMed
rs201065601	630	V>M		No	1000Genomes TOPMed
rs759667557	633	A>S		No	ExAC gnomAD
rs2144787409	633	A>V		No	Ensembl
rs746612992	634	P>S		No	ExAC gnomAD
rs1054866180	635	D>G		No	TOPMed gnomAD
rs1054866180	635	D>V		No	TOPMed gnomAD
rs781390422	638	H>R		No	ExAC gnomAD
rs2088068541	639	V>D		No	TOPMed gnomAD
rs368295391	639	V>F		No	ESP TOPMed
rs368295391	639	V>I		No	ESP TOPMed
rs1600798219	641	E>A		No	TOPMed
rs1600798219	641	E>G		No	TOPMed
COSM3692207 COSM3692208 rs2088069298	642	M>I	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated TOPMed
rs770410451	642	M>K		No	ExAC TOPMed gnomAD
rs770410451	642	M>T		No	ExAC TOPMed gnomAD
rs780648905	644	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs768575753	645	K>T		No	ExAC TOPMed gnomAD
rs774653931	648	R>G		No	ExAC TOPMed gnomAD
rs372608876 COSM304241	648	R>Q	large_intestine [Cosmic]	No	cosmic curated ESP ExAC TOPMed gnomAD
rs774653931	648	R>W		No	ExAC TOPMed gnomAD
rs1409203174	649	D>N		No	gnomAD
COSM3692209 COSM3692210	649	D>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs772883222	651	C>*		No	ExAC gnomAD
rs760665944	652	K>Q		No	ExAC gnomAD
rs1013516921 COSM1286582	653	P>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
rs766320548	653	P>L		No	ExAC gnomAD
rs1313910880	653	P>S		No	gnomAD
rs2088569747	654	N>K		No	Ensembl
rs558423060	654	N>S		No	1000Genomes ExAC gnomAD
rs1286700098	655	S>F		No	TOPMed gnomAD
COSM990094 rs1286700098 COSM4706665	655	S>Y	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs201587256	658	V>I		No	ESP ExAC TOPMed gnomAD
rs1299384026	659	E>G		No	gnomAD
rs2088570378	661	P>L		No	TOPMed
rs1403582224	662	P>S		No	TOPMed gnomAD
rs2088571053	663	F>L		No	TOPMed
rs1351117644	663	F>S		No	TOPMed
rs755147641	664	R>Q		No	ExAC TOPMed gnomAD
rs199929013	664	R>W		No	ExAC TOPMed gnomAD
rs2088571376	666	Q>H		No	TOPMed gnomAD
rs762400399	667	R>W		No	ExAC gnomAD
rs1265372046	668	I>M		No	gnomAD
rs1217409338	668	I>T		No	gnomAD
rs377750921	670	S>R		No	ESP ExAC TOPMed gnomAD
rs369561820	672	V>I		No	ESP ExAC TOPMed gnomAD
rs369561820	672	V>L		No	ESP ExAC TOPMed gnomAD
rs55829785	673	H>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs755315179	674	V>I		No	ExAC gnomAD
rs1362827694	677	Y>C		No	TOPMed gnomAD
rs753211496	678	V>F		No	ExAC TOPMed gnomAD
COSM4073472 rs753211496 COSM990095	678	V>I	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs982311406	679	C>G		No	TOPMed gnomAD
rs1205020215	681	G>R		No	TOPMed gnomAD
rs777807697	681	G>V		No	ExAC gnomAD
rs1205020215	681	G>W		No	TOPMed gnomAD
rs1248856890	683	R>K		No	TOPMed
rs1303012397	684	K>R		No	gnomAD
COSM3403673 rs1368829678 COSM3403672	685	R>*	Variant assessed as Somatic; HIGH impact. central_nervous_system [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs747274475	685	R>L		No	ExAC TOPMed gnomAD
rs747274475	685	R>Q		No	ExAC TOPMed gnomAD
rs757467219	686	S>G		No	ExAC TOPMed gnomAD
rs2088574683	687	Q>E		No	Ensembl
rs781332726	687	Q>P		No	ExAC gnomAD
rs769591138 COSM3147458 COSM3147459	690	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs779877080 COSM5171987 COSM1389854	690	R>H	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1407076097	691	F>Y		No	Ensembl
COSM3527808 COSM3527809	694	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2088575792	694	L>V		No	TOPMed
rs2088576031	695	P>L		No	Ensembl
rs2088575924	695	P>S		No	TOPMed
rs542259595	696	A>S		No	1000Genomes ExAC gnomAD
rs542259595	696	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA gnomAD
rs771867646	696	A>V		No	ExAC TOPMed gnomAD
COSM1524173 COSM3147460 rs772857723	697	N>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA
rs759853808	698	V>I		No	ExAC gnomAD
rs572329110	699	P>S		No	1000Genomes ExAC TOPMed gnomAD
rs572329110	699	P>T		No	1000Genomes ExAC TOPMed gnomAD
rs200971296	700	I>V		No	1000Genomes ExAC TOPMed gnomAD
rs765106508	701	I>T		No	ExAC gnomAD
rs1394498495	702	K>Q		No	TOPMed
rs2089490884	703	T>A		No	TOPMed
rs752722041	703	T>R		No	ExAC TOPMed gnomAD
rs758352262	704	E>G		No	ExAC gnomAD
rs746544878	705	P>A		No	ExAC TOPMed gnomAD
rs1427487961	705	P>L		No	gnomAD
rs1427487961	705	P>R		No	gnomAD
rs746544878	705	P>S		No	ExAC TOPMed gnomAD
rs746544878	705	P>T		No	ExAC TOPMed gnomAD
rs756680110	706	T>A		No	ExAC TOPMed gnomAD
rs756680110	706	T>S		No	ExAC TOPMed gnomAD
rs2089491540	707	D>N		No	gnomAD
rs2089491540	707	D>Y		No	gnomAD
COSM4073473	708	D>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1158156740	708	D>G		No	gnomAD
rs201438929	709	Y>D		No	Ensembl
rs201438929	709	Y>H		No	Ensembl
rs894879820	710	E>Q		No	TOPMed
rs2089491835	712	A>V		No	Ensembl
rs745497301	713	P>A		No	ExAC gnomAD
rs2089491989	713	P>L		No	TOPMed
rs745497301	713	P>S		No	ExAC gnomAD
rs2089492045	714	T>A		No	Ensembl
rs2089492115	714	T>I		No	gnomAD
rs1330375300	715	C>F		No	TOPMed gnomAD
rs769048849	715	C>R		No	ExAC gnomAD
rs1330375300	715	C>Y		No	TOPMed gnomAD
rs370228834	716	G>E		No	ESP TOPMed gnomAD
rs2089492383	716	G>R		No	Ensembl
rs774688540	717	P>L		No	ExAC TOPMed gnomAD
rs576505795	721	G>E		No	1000Genomes ExAC TOPMed gnomAD
rs766323337	724	P>S		No	ExAC TOPMed gnomAD
rs766323337	724	P>T		No	ExAC TOPMed gnomAD
rs1600891650	725	L>P		No	Ensembl
rs777046421	726	P>A		No	ExAC gnomAD
rs1555916378	726	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
TCGA novel	726	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs759804941	727	R>G		No	ExAC gnomAD
rs374524910	727	R>K		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1600891690	727	R>S		No	Ensembl
rs1276058832	728	P>S		No	TOPMed gnomAD
rs1268008396	729	Y>C		No	TOPMed
rs752528024	729	Y>H		No	ExAC TOPMed gnomAD
rs1451433214	730	Y>S		No	gnomAD
rs887446316	731	S>C		No	gnomAD
rs887446316	731	S>G		No	gnomAD
TCGA novel	735	A>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs372330806	735	A>P		No	ESP ExAC TOPMed gnomAD
rs372330806 COSM990097	735	A>T	endometrium [Cosmic]	No	cosmic curated ESP ExAC TOPMed gnomAD
rs375009218 COSM4757778	735	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
rs780648832	737	P>S		No	ExAC TOPMed gnomAD
rs150724243	738	P>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs750139191	738	P>T		No	ExAC TOPMed gnomAD
rs1600891901	739	D>A		No	Ensembl
rs748548145	739	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs778369605	740	P>H		No	ExAC gnomAD
rs778369605	740	P>R		No	ExAC gnomAD
rs772287578	740	P>S		No	ExAC gnomAD
rs747454454	741	S>I		No	ExAC TOPMed gnomAD
rs747454454	741	S>N		No	ExAC TOPMed gnomAD
rs2089494827 COSM1303875	742	S>C	Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs371946339	744	L>F		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1475154849	744	L>P		No	gnomAD
rs55839918	745	V>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD NCI-TCGA
rs55839918	745	V>M		No	ExAC TOPMed gnomAD
rs1436419301	747	G>D		No	TOPMed gnomAD
rs139715685	747	G>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1198331367	748	F>C		No	TOPMed gnomAD
rs775790001	749	P>L		No	ExAC gnomAD
rs775790001	749	P>R		No	ExAC gnomAD
rs2089495743	749	P>S		No	Ensembl
VAR_057146 rs754093 RCV002153125	751	C>G		No	ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs754093	751	C>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs147651267	752	P>L		No	ESP ExAC TOPMed gnomAD
rs147651267	752	P>Q		No	ESP ExAC TOPMed gnomAD
rs751555642	752	P>T		No	ExAC gnomAD
rs1464903149	755	S>N		No	gnomAD
rs755552285	755	S>R		No	ExAC gnomAD
rs1354641017	756	T>A		No	TOPMed
rs1331664731	756	T>S		No	gnomAD
rs1045021050	757	L>P		No	TOPMed gnomAD
rs916427840	757	L>V		No	TOPMed gnomAD
rs753386603	758	M>K		No	ExAC TOPMed gnomAD
rs1332937142	758	M>L		No	gnomAD
rs753386603	758	M>T		No	ExAC TOPMed gnomAD
rs1414056485	759	P>T		No	TOPMed gnomAD
COSM4073475	760	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs374962314	760	A>V		No	ESP ExAC TOPMed gnomAD
rs1218389113	761	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs202039486	762	P>L		No	1000Genomes ExAC TOPMed gnomAD
rs202039486	762	P>R		No	1000Genomes ExAC TOPMed gnomAD
rs145230460	764	V>L		No	1000Genomes ESP ExAC TOPMed gnomAD
RCV000969708 rs145230460	764	V>M		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1443057610	765	S>C		No	gnomAD
rs1443057610	765	S>G		No	gnomAD
rs1569021700	766	P>H		No	Ensembl
rs1468581436	767	K>R		No	TOPMed gnomAD
rs1231121986	768	L>F		No	TOPMed gnomAD
rs1231121986	768	L>I		No	TOPMed gnomAD
rs369946128	769	H>Q		No	ESP ExAC TOPMed gnomAD
rs1351624035	769	H>Y		No	gnomAD
TCGA novel	770	D>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs149171199	770	D>N		No	ESP ExAC TOPMed gnomAD
COSM365546 rs149171199	770	D>Y	lung [Cosmic]	No	cosmic curated ESP ExAC TOPMed gnomAD
rs2089498651	771	L>F		No	TOPMed gnomAD
rs2089498651	771	L>I		No	TOPMed gnomAD
rs761606907	773	P>A		No	ExAC gnomAD
rs767443429	773	P>R		No	ExAC TOPMed gnomAD
rs200898942	774	A>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs200898942	774	A>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2089498984	775	A>T		No	TOPMed
rs1402379598	777	T>I		No	TOPMed gnomAD
rs1402379598	777	T>N		No	TOPMed gnomAD
rs1417775660	779	G>V		No	TOPMed gnomAD
rs376070934	780	V>F		No	1000Genomes ESP ExAC TOPMed gnomAD
rs376070934 RCV001984977	780	V>I		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs757629843	781	A>T		No	ExAC gnomAD
rs566025866	782	S>N		No	1000Genomes ExAC gnomAD
rs372954162	783	P>L		No	1000Genomes TOPMed gnomAD
rs779993281	784	G>D		No	ExAC gnomAD
rs2089500120	784	G>S		No	Ensembl
rs768769929	785	H>P		No	ExAC TOPMed gnomAD
rs374701134	785	H>Y		No	ESP ExAC TOPMed gnomAD
rs1194226692	786	C>R		No	gnomAD
rs2089500782	786	C>Y		No	Ensembl
rs1479331806	787	H>Q		No	TOPMed gnomAD
rs1265136314	787	H>Y		No	gnomAD
rs747965958	788	L>F		No	ExAC gnomAD
rs1301355354	789	G>E		No	TOPMed
rs773186253	789	G>R		No	ExAC TOPMed gnomAD
rs369050265	790	L>F		No	ESP ExAC TOPMed gnomAD
rs2089501274	790	L>P		No	TOPMed
rs1181491175	791	P>A		No	TOPMed gnomAD
rs200207441 RCV000966519	791	P>L		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1299327679	792	Q>K		No	gnomAD
rs2089501807	792	Q>P		No	TOPMed gnomAD
rs377453275	793	P>L		No	ESP ExAC TOPMed gnomAD
rs1342846781	793	P>T		No	gnomAD
rs2089502390	794	A>D		No	gnomAD
rs752355299	794	A>S		No	ExAC gnomAD
rs752355299	794	A>T		No	ExAC gnomAD
TCGA novel	794	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
RCV002132489 rs56191735	795	G>R		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1353063283	796	E>*		No	gnomAD
TCGA novel	796	E>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs751037486	797	A>D		No	ExAC TOPMed gnomAD
rs751037486	797	A>G		No	ExAC TOPMed gnomAD
rs756675542	798	P>L		No	ExAC gnomAD
rs199958849	799	A>T		No	ESP ExAC TOPMed gnomAD
rs994159771	799	A>V		No	TOPMed gnomAD
rs376173313	800	V>I		No	ExAC TOPMed gnomAD
rs376173313	800	V>L		No	ExAC TOPMed gnomAD
rs748350216	802	D>N		No	ExAC TOPMed gnomAD
rs748350216	802	D>Y		No	ExAC TOPMed gnomAD
rs772988184	803	V>L		No	ExAC TOPMed gnomAD
RCV001898502 rs772988184	803	V>M		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs888516413	804	P>S		No	TOPMed gnomAD
rs888516413	804	P>T		No	TOPMed gnomAD
rs1235032639	805	R>K		No	gnomAD
rs1600893105	807	V>L		No	Ensembl
rs202220583	809	T>M		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1297958440	809	T>P		No	TOPMed
rs529441110	810	H>Y		No	gnomAD
rs1251646843	811	P>L		No	gnomAD
rs1051350259	811	P>S		No	Ensembl
rs201484637	812	G>S		No	1000Genomes ExAC TOPMed gnomAD
rs762686610	813	S>L		No	ExAC TOPMed gnomAD
rs2089504707	813	S>P		No	TOPMed
rs762686610	813	S>W		No	ExAC TOPMed gnomAD
rs2089504944	814	P>R		No	Ensembl
rs555514767	815	G>R		No	ExAC TOPMed gnomAD
rs754321143	816	Q>E		No	ExAC gnomAD
rs1188383848	817	P>L		No	TOPMed
rs1410935827	817	P>S		No	gnomAD
rs1369477489	818	P>L		No	TOPMed gnomAD
rs779021554	818	P>T		No	ExAC TOPMed gnomAD
rs752985084	819	P>L		No	ExAC TOPMed gnomAD
rs752985084	819	P>Q		No	ExAC TOPMed gnomAD
TCGA novel	819	P>R	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs746815318	820	A>D		No	ExAC gnomAD
rs746815318	820	A>V		No	ExAC gnomAD
rs2089506131	822	L>M		No	TOPMed gnomAD
rs1253171521	824	Q>K		No	TOPMed
rs745784626	826	V>L		No	ExAC gnomAD
rs769252160	828	A>V		No	ExAC TOPMed gnomAD
rs1216544298	829	P>L		No	gnomAD
rs1013577833	830	P>L		No	TOPMed gnomAD
rs2089506825	831	S>R		No	TOPMed
rs1318189002	832	S>I		No	gnomAD
rs1318189002	832	S>N		No	gnomAD
COSM5168810	833	S>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs775123158	833	S>N		No	ExAC gnomAD
rs1353997062	834	C>F		No	TOPMed gnomAD
rs1353997062	834	C>Y		No	TOPMed gnomAD
rs762490739	835	P>A		No	ExAC TOPMed gnomAD
rs768427557	835	P>L		No	1000Genomes ExAC gnomAD
rs762490739	835	P>T		No	ExAC TOPMed gnomAD
rs541069439	836	P>H		No	1000Genomes ExAC
rs774801875	836	P>L	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs541069439	836	P>L		No	1000Genomes ExAC
rs774106646	836	P>S		No	ExAC gnomAD
rs2089507810	838	L>V		No	Ensembl
rs754344490	839	E>K		No	ExAC TOPMed gnomAD
rs2089507999	840	H>L		No	TOPMed gnomAD
rs2089507999	840	H>R		No	TOPMed gnomAD
rs200591787	841	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs752788695	842	L>F		No	ExAC TOPMed gnomAD
rs752788695	842	L>I		No	ExAC TOPMed gnomAD
rs1447342389	843	C>R		No	gnomAD
rs368036741	843	C>Y		No	ESP ExAC TOPMed gnomAD
rs751735616	844	P>L		No	ExAC TOPMed gnomAD
rs1438343647	845	S>C		No	TOPMed
rs1370479141	845	S>N		No	gnomAD
rs1438343647	845	S>R		No	TOPMed
rs1252680272	846	S>R		No	TOPMed gnomAD
rs1398027357	847	P>A		No	gnomAD
rs1398027357	847	P>S		No	gnomAD
rs781034255	849	P>L		No	ExAC TOPMed gnomAD
rs1340833545	850	P>L		No	gnomAD
rs1305686920	851	L>F		No	TOPMed gnomAD
rs769780193	852	P>L		No	ExAC TOPMed gnomAD
rs1210234993	853	P>S		No	gnomAD
rs2089510130	855	T>N		No	TOPMed
rs2089510069	855	T>S		No	TOPMed
rs2089510346	857	E>V		No	TOPMed
rs747803592	858	P>L		No	ExAC TOPMed gnomAD
rs747803592	858	P>R		No	ExAC TOPMed gnomAD
rs774194752	858	P>S		No	ExAC TOPMed gnomAD
rs774194752	858	P>T		No	ExAC TOPMed gnomAD
rs2089510695	859	T>I		No	gnomAD
rs2145064327	859	T>P		No	Ensembl
rs1305566954	861	L>P		No	Ensembl
rs775939885	862	Q>*		No	ExAC gnomAD
rs1326120109	862	Q>H		No	TOPMed
rs1398973120	862	Q>P		No	TOPMed
rs2089511357	863	P>L		No	Ensembl
rs909066959	863	P>T		No	Ensembl
rs1341924275	864	C>R		No	gnomAD
rs1162441395	866	P>L		No	TOPMed gnomAD
rs763047062	867	A>G		No	ExAC gnomAD
rs1212136752	867	A>T		No	TOPMed gnomAD
rs763047062	867	A>V		No	ExAC gnomAD
rs1569022588	868	C>*		No	Ensembl
rs751771633 COSM1286583	868	C>F	Variant assessed as Somatic; MODERATE impact. autonomic_ganglia [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs751771633	868	C>Y		No	ExAC TOPMed gnomAD
rs757484996	869	P>L		No	ExAC gnomAD
rs750232462	870	P>S		No	ExAC gnomAD
rs749214445	871	A>S		No	ExAC TOPMed gnomAD
rs749214445	871	A>T		No	ExAC TOPMed gnomAD
rs1285887246	872	T>M		No	TOPMed gnomAD
rs778564138	874	R>C		No	ExAC TOPMed gnomAD
rs375156883	874	R>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs375156883	874	R>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs199800288	875	P>L		No	1000Genomes ExAC TOPMed gnomAD
rs199800288	875	P>Q		No	1000Genomes ExAC TOPMed gnomAD
rs1039727753	875	P>S		No	TOPMed
rs2145064746	878	L>P		No	Ensembl
rs776029521	879	P>L		No	ExAC TOPMed gnomAD
rs776029521	879	P>Q		No	ExAC TOPMed gnomAD
rs1158024646	881	T>A		No	TOPMed gnomAD
rs201643124	881	T>M		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1160594982	882	V>A		No	Ensembl
rs2089513827	882	V>F		No	TOPMed
rs767808131	883	R>C		No	ExAC TOPMed gnomAD
rs750561672	883	R>H		No	ExAC TOPMed gnomAD
rs750561672	883	R>L		No	ExAC TOPMed gnomAD
rs969688436	884	R>G		No	gnomAD
rs753892026	885	D>E		No	ExAC TOPMed gnomAD
rs754955023	886	E>K		No	ExAC TOPMed gnomAD
rs778938246	887	S>C		No	ExAC TOPMed gnomAD
rs747699339	888	P>L		No	ExAC TOPMed gnomAD
COSM3692211	890	A>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs991994331	890	A>T		No	TOPMed gnomAD
rs145894495	891	G>R		No	ESP ExAC TOPMed gnomAD
rs1255099494	892	P>S		No	TOPMed gnomAD
rs1178141660	893	R>Q		No	TOPMed gnomAD
rs770187821	893	R>W		No	ExAC TOPMed gnomAD
rs2089515465	896	P>L		No	TOPMed
rs2089515465	896	P>R		No	TOPMed
rs1380929011	896	P>S		No	gnomAD
rs1600894497	897	E>G		No	Ensembl
rs371582451	897	E>K		No	ESP ExAC TOPMed gnomAD
rs371582451	897	E>Q		No	ESP ExAC TOPMed gnomAD
rs549513463	898	V>L		No	1000Genomes ExAC TOPMed gnomAD
rs549513463	898	V>M		No	1000Genomes ExAC TOPMed gnomAD
rs138493207	900	E>G		No	ESP ExAC TOPMed gnomAD
rs1405703588	900	E>Q		No	gnomAD
rs2089516253	901	D>N		No	TOPMed
rs762663968	902	G>D		No	TOPMed gnomAD
rs141937306	902	G>S		No	ESP ExAC TOPMed gnomAD
rs942912420	904	P>L		No	Ensembl
rs1569022791	904	P>S		No	Ensembl
rs2089516883	905	N>K		No	Ensembl
rs979711086	905	N>Y		No	gnomAD
rs2089516974	906	L>S		No	gnomAD
rs760973609	907	A>D		No	ExAC gnomAD
rs925575002	908	P>S		No	Ensembl
rs2089517322	909	I>V		No	TOPMed
rs1445063139	910	P>A		No	gnomAD
COSM3527810	910	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs868561241	911	V>A		No	Ensembl
rs201739424	912	T>M		No	1000Genomes ExAC TOPMed gnomAD
rs1229273285	915	R>*		No	TOPMed gnomAD
rs765251389	915	R>Q		No	ExAC TOPMed gnomAD
rs1185585538	916	E>Q		No	TOPMed gnomAD
rs374879780	917	P>T		No	ESP TOPMed gnomAD
rs1052579102	919	E>G		No	TOPMed gnomAD
rs752532245	919	E>K		No	ExAC gnomAD
rs757980109	921	D>E		No	ExAC gnomAD
rs2089518335	922	Q>*		No	TOPMed
rs1475693261	924	Y>D		No	gnomAD
rs2089519013 COSM1389855	926	D>G	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated TOPMed
rs2089519013	926	D>V		No	TOPMed
rs1569022892	926	D>Y		No	TOPMed gnomAD
rs756913636	927	D>H		No	ExAC TOPMed gnomAD
rs756913636	927	D>N		No	ExAC TOPMed gnomAD
rs1487381726	928	V>A		No	gnomAD
rs780754685	928	V>I		No	ExAC gnomAD
rs780754685	928	V>L		No	ExAC gnomAD
rs1377428178	929	N>H		No	TOPMed gnomAD
rs200791619	929	N>S		No	1000Genomes ExAC TOPMed gnomAD
rs2090801942	931	I>L		No	TOPMed
COSM990098	932	I>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1601031772	932	I>T		No	Ensembl
rs372768753	933	R>*		No	ESP ExAC TOPMed gnomAD
rs372768753	933	R>G		No	ESP ExAC TOPMed gnomAD
rs138427349 COSM1217179	933	R>Q	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
COSM1630673 rs2090802387	934	N>S	liver [Cosmic]	No	cosmic curated TOPMed gnomAD
TCGA novel	936	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1186171761	936	L>V		No	TOPMed
rs1439634096	937	S>F		No	gnomAD
rs1439634096	937	S>Y		No	gnomAD
rs149271669	939	T>M		No	1000Genomes ESP ExAC TOPMed gnomAD
rs149271669	939	T>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2090802996	942	H>Y		No	Ensembl
rs1437904463	943	S>F		No	TOPMed gnomAD
rs1162938647	944	S>Q		No	gnomAD

No associated diseases with O95644

2 regional properties for O95644

Type	Name	Position	InterPro Accession
domain	Zinc finger, A20-type	796 - 831	IPR002653
domain	OTU domain	183 - 365	IPR003323

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Nucleus	Cytoplasmic for the phosphorylated form and nuclear after activation that is controlled by calcineurin-mediated dephosphorylation Rapid nuclear exit of NFATC is thought to be one mechanism by which cells distinguish between sustained and transient calcium signals Translocation to the nucleus is increased in the presence of calcium in pre-osteoblasts (By similarity) The subcellular localization of NFATC plays a key role in the regulation of gene transcription (PubMed:16511445) Nuclear translocation of NFATC1 is enhanced in the presence of TNFSF11 Nuclear translocation is decreased in the presence of FBN1 which can bind and sequester TNFSF11 (By similarity)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

9 GO annotations of cellular component

Name	Definition
chromatin	The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
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.
nuclear body	Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.
sarcoplasm	The cytoplasm of a muscle cell; includes the sarcoplasmic reticulum.
transcription regulator complex	A protein complex that is capable of associating with DNA by direct binding, or via other DNA-binding proteins or complexes, and regulating transcription.

10 GO annotations of molecular function

Name	Definition
DNA-binding transcription activator activity, RNA polymerase II-specific	A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets transcribed by RNA polymerase II.
DNA-binding transcription factor activity	A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons.
DNA-binding transcription factor activity, RNA polymerase II-specific	A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II.
FK506 binding	Binding to a 23-membered macrolide lactone FK506.
mitogen-activated protein kinase p38 binding	Binding to mitogen-activated protein kinase p38, an enzyme that catalyzes the transfer of phosphate from ATP to hydroxyl side chains on proteins in response to mitogen activation.
nucleic acid binding	Binding to a nucleic acid.
RNA polymerase II cis-regulatory region sequence-specific DNA binding	Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II.
RNA polymerase II-specific DNA-binding transcription factor binding	Binding to a sequence-specific DNA binding RNA polymerase II transcription factor, any of the factors that interact selectively and non-covalently with a specific DNA sequence in order to modulate transcription.
sequence-specific double-stranded DNA binding	Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding.
transcription coactivator binding	Binding to a transcription coactivator, a protein involved in positive regulation of transcription via protein-protein interactions with transcription factors and other proteins that positively regulate transcription. Transcription coactivators do not bind DNA directly, but rather mediate protein-protein interactions between activating transcription factors and the basal transcription machinery.

16 GO annotations of biological process

Name	Definition
aortic valve morphogenesis	The process in which the structure of the aortic valve is generated and organized.
calcineurin-NFAT signaling cascade	Any intracellular signal transduction in which the signal is passed on within the cell by activation of a member of the NFAT protein family as a consequence of NFAT dephosphorylation by Ca(2+)-activated calcineurin. The cascade begins with calcium-dependent activation of the phosphatase calcineurin. Calcineurin dephosphorylates multiple phosphoserine residues on NFAT, resulting in the translocation of NFAT to the nucleus. The cascade ends with regulation of transcription by NFAT. The calcineurin-NFAT cascade lies downstream of many cell surface receptors, including G protein-coupled receptors (GPCRs) and receptor tyrosine kinases (RTKs) that signal to mobilize calcium ions (Ca2+).
cellular response to transforming growth factor beta 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 a transforming growth factor beta stimulus.
cellular response to tumor necrosis factor	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 tumor necrosis factor stimulus.
intracellular signal transduction	The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.
mononuclear cell differentiation	The process in which a relatively unspecialized cell acquires the specialized features of a mononuclear cell.
negative regulation of vascular associated smooth muscle cell differentiation	Any process that stops, prevents or reduces the frequency, rate or extent of vascular smooth muscle cell differentiation.
negative regulation of Wnt signaling pathway	Any process that stops, prevents, or reduces the frequency, rate or extent of the Wnt signaling pathway.
positive regulation of DNA biosynthetic process	Any process that activates or increases the frequency, rate or extent of DNA biosynthetic process.
positive regulation of DNA-templated transcription	Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
positive regulation of transcription by RNA polymerase II	Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
pulmonary valve morphogenesis	The process in which the structure of the pulmonary valve is generated and organized.
regulation of transcription by RNA polymerase II	Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.
response to muscle activity	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a muscle activity stimulus.
skeletal muscle adaptation	Any process in which skeletal muscles change their phenotypic profiles in response to altered functional demands and a variety of signals.
wound healing	The series of events that restore integrity to a damaged tissue, following an injury.

6 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P98201	NFATC1	Nuclear factor of activated T-cells, cytoplasmic 1	Bos taurus (Bovine)	SS
Q14934	NFATC4	Nuclear factor of activated T-cells, cytoplasmic 4	Homo sapiens (Human)	PR
Q8K120	Nfatc4	Nuclear factor of activated T-cells, cytoplasmic 4	Mus musculus (Mouse)	PR
Q60591	Nfatc2	Nuclear factor of activated T-cells, cytoplasmic 2	Mus musculus (Mouse)	PR
O88942	Nfatc1	Nuclear factor of activated T-cells, cytoplasmic 1	Mus musculus (Mouse)	EV
O77638	NFATC1	Nuclear factor of activated T-cells, cytoplasmic 1	Sus scrofa (Pig)	SS

10	20	30	40	50	60
MPSTSFPVPS	KFPLGPAAAV	FGRGETLGPA	PRAGGTMKSA	EEEHYGYASS	NVSPALPLPT
70	80	90	100	110	120
AHSTLPAPCH	NLQTSTPGII	PPADHPSGYG	AALDGGPAGY	FLSSGHTRPD	GAPALESPRI
130	140	150	160	170	180
EITSCLGLYH	NNNQFFHDVE	VEDVLPSSKR	SPSTATLSLP	SLEAYRDPSC	LSPASSLSSR
190	200	210	220	230	240
SCNSEASSYE	SNYSYPYASP	QTSPWQSPCV	SPKTTDPEEG	FPRGLGACTL	LGSPRHSPST
250	260	270	280	290	300
SPRASVTEES	WLGARSSRPA	SPCNKRKYSL	NGRQPPYSPH	HSPTPSPHGS	PRVSVTDDSW
310	320	330	340	350	360
LGNTTQYTSS	AIVAAINALT	TDSSLDLGDG	VPVKSRKTTL	EQPPSVALKV	EPVGEDLGSP
370	380	390	400	410	420
PPPADFAPED	YSSFQHIRKG	GFCDQYLAVP	QHPYQWAKPK	PLSPTSYMSP	TLPALDWQLP
430	440	450	460	470	480
SHSGPYELRI	EVQPKSHHRA	HYETEGSRGA	VKASAGGHPI	VQLHGYLENE	PLMLQLFIGT
490	500	510	520	530	540
ADDRLLRPHA	FYQVHRITGK	TVSTTSHEAI	LSNTKVLEIP	LLPENSMRAV	IDCAGILKLR
550	560	570	580	590	600
NSDIELRKGE	TDIGRKNTRV	RLVFRVHVPQ	PSGRTLSLQV	ASNPIECSQR	SAQELPLVEK
610	620	630	640	650	660
QSTDSYPVVG	GKKMVLSGHN	FLQDSKVIFV	EKAPDGHHVW	EMEAKTDRDL	CKPNSLVVEI
670	680	690	700	710	720
PPFRNQRITS	PVHVSFYVCN	GKRKRSQYQR	FTYLPANVPI	IKTEPTDDYE	PAPTCGPVSQ
730	740	750	760	770	780
GLSPLPRPYY	SQQLAMPPDP	SSCLVAGFPP	CPQRSTLMPA	APGVSPKLHD	LSPAAYTKGV
790	800	810	820	830	840
ASPGHCHLGL	PQPAGEAPAV	QDVPRPVATH	PGSPGQPPPA	LLPQQVSAPP	SSSCPPGLEH
850	860	870	880	890	900
SLCPSSPSPP	LPPATQEPTC	LQPCSPACPP	ATGRPQHLPS	TVRRDESPTA	GPRLLPEVHE
910	920	930	940
DGSPNLAPIP	VTVKREPEEL	DQLYLDDVNE	IIRNDLSSTS	THS