AiPD: Autoinhibited Protein Database

O15350

Gene name	TP73 (P73)
Protein name	Tumor protein p73
Names	p53-like transcription factor , p53-related protein
Species	Homo sapiens (Human)
KEGG Pathway	hsa:7161
EC number
Protein Class

Descriptions

TAp63, the longest isoform of p63, is highly expressed in primary oocytes that are arrested in prophase of meiosis I. Autoinhibition of TAp63 is characterized by a reduction in affinity to DNA and activators such as p300. The transactivation (TA) domain configuration in TAp63 suppresses interaction with the acetyltransferase p300 by blocking the tetramerization interface of the tetramerization domain. This autoinhibition mechanism keeps TAp63 in a dimeric conformation, which significantly reduces its transcriptional activity compared to other forms. The proteolytic cleavage of TAp63 at either the C-terminus of the TA domain (66-67) or the N-terminus of the TI domain (591-592) results in a rapid conversion of the closed dimeric state into an open tetrameric conformation. In contrast, cleavage at the C-terminus of TAp63ɑ does not affect on the relief of autoinhibition. The detection of DNA damage initiates a kinase cascade that leads to sequential phosphorylation by Chk2 and CK1. This process results in the formation of an open and tetrameric state, which exhibits higher DNA binding affinity compared with the closed dimeric conformation.

Autoinhibitory domains (AIDs)

369-404 (TA domain) SS

Target domain	532-636 (Tetramerization domain)
Relief mechanism	PTM, Cleavage, Others
Assay

AID

369-404 (TA domain)

Target domain

532-636 (Tetramerization domain)

Relief mechanism

PTM (Phosphorylation by Chk2), Cleavage (Proteolytic cleavage at C-terminus of TA domain or N-terminus of TI domain), Others (Detection of DNA damage)

Assay

Accessory elements

No accessory elements

References

Krauskopf K et al. (2018) "Regulation of the Activity in the p53 Family Depends on the Organization of the Transactivation Domain", Structure (London, England : 1993), 26, 1091-1100.e4

Autoinhibited structure

Activated structure

27 structures for O15350

Entry ID	Method	Resolution	Chain	Position	Source
1COK	NMR	-	A	487-554	PDB
1DXS	X-ray	254 A	A	487-564	PDB
2KBY	NMR	-	A/B/C/D	351-398	PDB
2MPS	NMR	-	B	10-25	PDB
2NB1	NMR	-	B/D	351-398	PDB
2WQI	X-ray	170 A	A/B/C/D	351-399	PDB
2WQJ	X-ray	200 A	1/2/A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P/Q/R/S/T/U/V/W/X/Y/Z	351-383	PDB
2WTT	X-ray	230 A	A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P	351-399	PDB
2XWC	X-ray	182 A	A	112-311	PDB
3VD0	X-ray	295 A	A/B/C/D/I/J/K/L	115-312	PDB
3VD1	X-ray	295 A	A/B/C/D/I/J/K/L	115-312	PDB
3VD2	X-ray	400 A	A/B/C/D/I/J	115-312	PDB
4A63	X-ray	227 A	A/C/E/G/I/K	112-311	PDB
4G82	X-ray	310 A	A/B	115-312	PDB
4G83	X-ray	400 A	A/B	115-312	PDB
4GUO	X-ray	319 A	A/B/C/D/I/J/K/L	115-312	PDB
4GUQ	X-ray	370 A	A/B	115-312	PDB
5HOB	X-ray	122 A	A/B/C/D/E/F/G/H	351-398	PDB
5HOC	X-ray	136 A	A/B	351-398	PDB
5KBD	X-ray	280 A	A/B	115-312	PDB
6FGS	NMR	-	A	10-31	PDB
6IJQ	NMR	-	A	10-25	PDB
7EZJ	X-ray	290 A	A/B/C/D/I/J/K/L/a/b/c/d/i/j/k/l	115-312	PDB
8P9C	X-ray	176 A	B	351-398	PDB
8P9D	X-ray	270 A	B/D	351-398	PDB
8P9E	X-ray	225 A	B	351-398	PDB
AF-O15350-F1	Predicted				AlphaFoldDB

1047 variants for O15350

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
COSM4007428 RCV001553814 RCV001844300 rs2124478772 COSM4007427	205	E>*	Variant assessed as Somatic; HIGH impact. Ciliary dyskinesia, primary, 47, and lissencephaly [NCI-TCGA, ClinVar]	Yes	NCI-TCGA Cosmic ClinVar Ensembl dbSNP
VAR_086144	205	E>del	CILD47 [UniProt]	Yes	UniProt
rs986713005 RCV001291508	301	D>N	Neurodevelopmental disorder [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
rs2124524068 RCV001553812	332	Q>*	Ciliary dyskinesia, primary, 47, and lissencephaly [ClinVar]	Yes	ClinVar Ensembl dbSNP
VAR_086145	332	Q>del	CILD47 [UniProt]	Yes	UniProt
RCV001553813 rs2124544212	487	Y>missing	Ciliary dyskinesia, primary, 47, and lissencephaly [ClinVar]	Yes	ClinVar dbSNP
rs2102089513	2	A>D		No	Ensembl
rs745657321	2	A>S		No	ExAC TOPMed gnomAD
rs745657321	2	A>T		No	ExAC TOPMed gnomAD
rs2102089513	2	A>V		No	Ensembl
rs1361031582	3	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1645545207	5	T>A		No	TOPMed
rs763021753	6	A>T		No	ExAC TOPMed gnomAD
rs1027916899	8	S>F		No	TOPMed
rs2102089593	8	S>P		No	Ensembl
rs1027916899	8	S>Y		No	TOPMed
rs1645545460	9	P>H		No	Ensembl
rs1645545460	9	P>L		No	Ensembl
rs773183586	10	D>E		No	ExAC TOPMed gnomAD
rs1457346498	10	D>Y		No	TOPMed gnomAD
rs192866394	11	G>A		No	1000Genomes ExAC TOPMed gnomAD
rs189898953	11	G>R		No	1000Genomes ExAC TOPMed gnomAD
rs192866394	11	G>V		No	1000Genomes ExAC TOPMed gnomAD
rs755178747	12	G>C		No	ExAC gnomAD
COSM908711 rs868380825	12	G>D	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA
rs755178747	12	G>S		No	ExAC gnomAD
rs1417398927	13	T>A		No	gnomAD
rs1413658294	13	T>N		No	Ensembl
rs540799371	14	T>M		No	1000Genomes ExAC TOPMed gnomAD
rs1469078074	16	E>*		No	gnomAD
rs2102089783	17	H>Y		No	Ensembl
rs2102089795	19	W>C		No	Ensembl
rs1645546401	21	S>A		No	Ensembl
COSM4854077	22	L>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1226457525	22	L>P		No	gnomAD
rs1282746368	23	E>K		No	gnomAD
rs1282746368	23	E>Q		No	gnomAD
rs755848902	25	D>E		No	ExAC TOPMed gnomAD
rs1645562251	25	D>H		No	TOPMed
rs2102092678	26	S>N		No	Ensembl
rs2102092691	27	T>A		No	Ensembl
rs1201841744	30	D>E		No	TOPMed gnomAD
rs1645562446	30	D>N		No	Ensembl
rs749098599	31	L>F		No	ExAC gnomAD
rs749098599	31	L>I		No	ExAC gnomAD
rs1478215247	32	P>S		No	TOPMed gnomAD
rs2102092752	33	Q>E		No	Ensembl
rs2102092774	33	Q>H		No	Ensembl
rs982697297	33	Q>P		No	Ensembl
COSM1473923	34	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1157975374	35	S>N		No	gnomAD
rs768562905	36	R>G		No	ExAC TOPMed gnomAD
rs778557179	36	R>P		No	ExAC TOPMed gnomAD
rs778557179	36	R>Q		No	ExAC TOPMed gnomAD
rs768562905	36	R>W		No	ExAC TOPMed gnomAD
rs2102092833	37	G>E		No	Ensembl
rs1402306453	37	G>R		No	gnomAD
TCGA novel	38	N>I	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1364395107	39	N>H		No	TOPMed gnomAD
rs1645563050	39	N>K		No	Ensembl
rs2102092868	40	E>K		No	Ensembl
rs776805418	41	V>M		No	ExAC gnomAD
rs770017801	42	V>L		No	ExAC gnomAD
rs770017801	42	V>M		No	ExAC gnomAD
rs1645563460	44	G>E		No	gnomAD
rs186470936	44	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs148777835	45	T>K		No	ESP ExAC TOPMed gnomAD
rs148777835	45	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs148777835	45	T>R		No	ESP ExAC TOPMed gnomAD
rs146385419	46	D>N		No	1000Genomes ESP ExAC TOPMed gnomAD
COSM464504	49	M>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs755616910	50	D>E		No	ExAC TOPMed gnomAD
rs770878554	50	D>N		No	ExAC TOPMed gnomAD
rs2102093036	50	D>V		No	Ensembl
rs770878554	50	D>Y		No	ExAC TOPMed gnomAD
rs146218192	51	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs146218192	51	V>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs754563142	53	H>D		No	1000Genomes ExAC TOPMed gnomAD
rs754563142	53	H>Y		No	1000Genomes ExAC TOPMed gnomAD
rs377512486	54	L>R		No	ESP ExAC TOPMed gnomAD
rs1275095357	54	L>V		No	TOPMed
rs772069446	56	G>D		No	ExAC gnomAD
rs200781521	56	G>S		No	1000Genomes TOPMed gnomAD
rs975388384	57	M>I		No	TOPMed
rs777629878	58	T>S		No	ExAC TOPMed gnomAD
rs146411154	58	T>S		No	ESP TOPMed gnomAD
COSM6126455	60	S>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs769931912	62	M>I		No	ExAC gnomAD
rs1645564588	62	M>V		No	Ensembl
rs1639769871	64	Q>H		No	TOPMed
rs750199740	66	N>K		No	ExAC gnomAD
rs1251168569	66	N>S		No	gnomAD
rs149758576	67	L>P		No	ESP
rs368161007	68	L>P		No	ESP ExAC TOPMed gnomAD
rs766289738	69	S>C		No	ExAC TOPMed gnomAD
rs766289738	69	S>G		No	ExAC TOPMed gnomAD
rs1181830801	70	S>G		No	gnomAD
rs886070137	72	M>I		No	TOPMed gnomAD
rs367665102	72	M>T		No	ESP TOPMed
rs1639772585	73	D>A		No	TOPMed gnomAD
rs916755737	73	D>E		No	TOPMed
rs949622074	74	Q>P		No	TOPMed gnomAD
rs949622074	74	Q>R		No	TOPMed gnomAD
COSM3369728 COSM3369729	75	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1639773380	75	M>T		No	TOPMed
rs758486394	76	S>N		No	ExAC TOPMed gnomAD
rs758486394	76	S>T		No	ExAC TOPMed gnomAD
rs1353759920	77	S>R		No	TOPMed gnomAD
rs199504447	78	R>L		No	ExAC TOPMed gnomAD
TCGA novel	78	R>missing	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs777997255	78	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs199504447	78	R>H		No	ExAC TOPMed gnomAD
rs199504447	78	R>P		No	ExAC TOPMed gnomAD
rs746207826	79	A>E		No	ExAC TOPMed gnomAD
COSM4007402 COSM4007401 rs781452147	79	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs746207826 COSM2080794 COSM2080793	79	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs1294377607	80	A>D		No	gnomAD
rs758980916	80	A>P		No	ExAC TOPMed gnomAD
rs758980916	80	A>S		No	ExAC TOPMed gnomAD
rs758980916	80	A>T		No	ExAC TOPMed gnomAD
rs1294377607	80	A>V		No	gnomAD
rs749787981	81	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs761491632	82	A>D		No	ExAC gnomAD
rs773826965	82	A>T		No	ExAC TOPMed gnomAD
rs761491632	82	A>V		No	ExAC gnomAD
rs1302501146	83	S>N		No	TOPMed
rs1639777993	83	S>R		No	gnomAD
rs760461927	84	P>R		No	ExAC gnomAD
rs772903535	84	P>S		No	ExAC gnomAD
rs766231402	86	T>I		No	ExAC TOPMed gnomAD
rs1570543566	86	T>P		No	Ensembl
rs766231402	86	T>S		No	ExAC TOPMed gnomAD
rs753896090	87	P>L		No	ExAC TOPMed gnomAD
rs866488685	87	P>S		No	Ensembl
rs1639780053	88	E>D		No	Ensembl
rs2124394067	88	E>G		No	Ensembl
TCGA novel rs2124394052	88	E>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs1400737698	90	A>P		No	TOPMed gnomAD
rs1400737698	90	A>S		No	TOPMed gnomAD
rs1400737698	90	A>T		No	TOPMed gnomAD
rs2124394157	90	A>V		No	Ensembl
rs965318245	91	A>T		No	TOPMed gnomAD
rs757455947	93	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs145204413	94	P>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs145204413	94	P>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs750754534	95	T>P		No	ExAC gnomAD
rs750754534	95	T>S		No	ExAC gnomAD
rs1639783310	96	H>R		No	Ensembl
rs2124394362	97	S>L		No	Ensembl
rs1486664777	98	P>S		No	TOPMed gnomAD
rs778423815	100	A>G		No	ExAC TOPMed gnomAD
rs755446376	100	A>T		No	ExAC gnomAD
rs778423815	100	A>V		No	ExAC TOPMed gnomAD
rs2124394476	101	Q>E		No	Ensembl
rs2124394492	101	Q>H		No	Ensembl
COSM3488957 COSM3488958	103	S>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs747608276	103	S>N		No	ExAC gnomAD
rs771635685	103	S>R		No	ExAC gnomAD
COSM3369730 COSM3369731	105	T>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2124394583	105	T>P		No	Ensembl
rs536303321	106	F>L		No	1000Genomes TOPMed gnomAD
rs746637989	107	D>H		No	ExAC gnomAD
rs746637989	107	D>N		No	ExAC gnomAD
rs776547655	108	T>N		No	ExAC TOPMed gnomAD
rs770818561	108	T>S		No	ExAC gnomAD
rs776547655	108	T>S		No	ExAC TOPMed gnomAD
rs2124394736	109	M>I		No	Ensembl
rs372189156	110	S>L		No	ESP ExAC TOPMed gnomAD
rs372189156	110	S>W		No	ESP ExAC TOPMed gnomAD
COSM242013 rs767485879	111	P>L	prostate [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs949647240	111	P>S		No	Ensembl
rs756265756	112	A>S		No	ExAC TOPMed gnomAD
rs377337435	112	A>V		No	ExAC TOPMed gnomAD
rs888530957	113	P>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs888530957	113	P>L		No	TOPMed gnomAD
rs888530957	113	P>R		No	TOPMed gnomAD
rs2124394977	114	V>I		No	Ensembl
rs267598580	115	I>L		No	TOPMed
rs267598580	115	I>V		No	TOPMed
TCGA novel	116	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1639790562	118	N>D		No	TOPMed
rs1284051162	118	N>K		No	TOPMed gnomAD
rs779335614	118	N>S		No	1000Genomes ExAC TOPMed gnomAD
rs747617044	119	T>I		No	ExAC gnomAD
rs1639791218	119	T>S		No	Ensembl
rs777136008	120	D>H		No	ExAC gnomAD
rs777136008	120	D>N		No	ExAC gnomAD
rs1639792227	121	Y>H		No	TOPMed
rs2124395304	122	P>H		No	Ensembl
rs770462171	122	P>S		No	ExAC gnomAD
COSM4851864 COSM4851865	123	G>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2124395374	123	G>A		No	Ensembl
rs1639792777	123	G>R		No	TOPMed gnomAD
rs776602870	124	P>L		No	ExAC TOPMed gnomAD
rs1378000606	125	H>Q		No	gnomAD
COSM1296355	126	H>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2124395456	128	E>G		No	Ensembl
rs769869678	128	E>K		No	ExAC gnomAD
rs2124395456	128	E>V		No	Ensembl
rs1158679007	130	T>N		No	gnomAD
rs2124395487	131	F>L		No	Ensembl
TCGA novel	131	F>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs775630831	132	Q>*		No	ExAC gnomAD
rs2124395526	132	Q>H		No	Ensembl
COSM3360876 rs1384655117 COSM3360877	133	Q>*	kidney [Cosmic]	No	cosmic curated gnomAD
rs1332033590 COSM76791	133	Q>H	Variant assessed as Somatic; MODERATE impact. ovary [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated gnomAD
COSM340571 rs1384655117	133	Q>K	lung [Cosmic]	No	cosmic curated gnomAD
rs1326011770	133	Q>P		No	gnomAD
rs1639794789	134	S>A		No	gnomAD
rs2124395615	135	S>C		No	Ensembl
rs2124395625	135	S>N		No	Ensembl
rs533423024	136	T>M		No	ExAC TOPMed gnomAD
rs762783806	136	T>P		No	ExAC
rs2124395749	137	A>G		No	Ensembl
rs1379702301	137	A>T		No	gnomAD
rs2124395749	137	A>V		No	Ensembl
rs2124395788	139	S>A		No	Ensembl
rs2124395788	139	S>T		No	Ensembl
rs2124395821	140	A>P		No	Ensembl
rs2124395821	140	A>T		No	Ensembl
rs2124395832	140	A>V		No	Ensembl
rs2124395849	141	T>S		No	Ensembl
rs1048065971	143	T>M		No	TOPMed
rs869253725	145	S>F		No	TOPMed
rs771056792	146	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
COSM908798	146	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1368505204	147	L>F		No	TOPMed gnomAD
rs2124477546 COSM1293258	148	L>F	cervix [Cosmic]	No	cosmic curated Ensembl
rs2124477560	149	K>*		No	Ensembl
rs2124477578	150	K>E		No	Ensembl
rs2124477586	150	K>I		No	Ensembl
rs1570603293	150	K>N		No	Ensembl
rs2124477609	151	L>H		No	Ensembl
TCGA novel	151	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2124477632	152	Y>F		No	Ensembl
rs1641113989	152	Y>H		No	TOPMed gnomAD
rs2124477660	153	C>*		No	Ensembl
rs2124477648	153	C>Y		No	Ensembl
rs2124477685	154	Q>H		No	Ensembl
rs1482214936	155	I>L		No	gnomAD
rs775948386	155	I>M		No	ExAC TOPMed gnomAD
rs2124477709	155	I>N		No	Ensembl
rs2124477758	156	A>G		No	Ensembl
rs148619697	156	A>P		No	ESP ExAC TOPMed gnomAD
rs148619697	156	A>T		No	ESP ExAC TOPMed gnomAD
rs2124477767	157	K>N		No	Ensembl
rs2124477790	160	P>L		No	Ensembl
rs764671017	161	I>F		No	ExAC gnomAD
rs764671017	161	I>L		No	ExAC gnomAD
rs551572334	161	I>M		No	1000Genomes ExAC gnomAD
rs1288649841	162	Q>H		No	TOPMed
rs1426286216	162	Q>R		No	gnomAD
rs762384282	165	V>L		No	ExAC TOPMed gnomAD
rs1175746845	166	S>P		No	gnomAD
rs1376434868	166	S>Y		No	gnomAD
rs749910695	167	T>I		No	ExAC gnomAD
rs749910695	167	T>N		No	ExAC gnomAD
rs767172192	167	T>P		No	ExAC gnomAD
rs767172192	167	T>S		No	ExAC gnomAD
rs749910695	167	T>S		No	ExAC gnomAD
rs765888000	168	P>L		No	ExAC TOPMed gnomAD
rs765888000	168	P>Q		No	ExAC TOPMed gnomAD
rs765888000	168	P>R		No	ExAC TOPMed gnomAD
rs2124477982	168	P>S		No	Ensembl
rs1641119095	170	P>A		No	TOPMed gnomAD
rs1032826594	170	P>L		No	Ensembl
rs1641119095	170	P>S		No	TOPMed gnomAD
rs1400421714	171	P>A		No	gnomAD
rs754796086	171	P>Q		No	ExAC gnomAD
rs2124478126	172	G>A		No	Ensembl
rs1641119924	172	G>S		No	gnomAD
COSM908799	172	G>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1641120253	173	T>I		No	TOPMed
rs2124478180	174	A>D		No	Ensembl
rs748133630	174	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs2124478192	175	I>L		No	Ensembl
rs1352294563	176	R>Q		No	TOPMed gnomAD
rs1440283762	176	R>W		No	TOPMed
rs781282841	177	A>T		No	ExAC gnomAD
rs1418881790	178	M>I		No	TOPMed gnomAD
rs1488374978	178	M>L		No	TOPMed gnomAD
rs1488374978	178	M>V		No	TOPMed gnomAD
rs2124478275	179	P>S		No	Ensembl
rs2124478275	179	P>T		No	Ensembl
rs745902034	180	V>F		No	ExAC gnomAD
rs745902034	180	V>I		No	ExAC gnomAD
rs745902034	180	V>L		No	ExAC gnomAD
rs1350716453	184	A>T		No	TOPMed
rs1641123267	184	A>V		No	Ensembl
TCGA novel	185	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1291907653	185	E>D		No	TOPMed
rs2124478362	186	H>N		No	Ensembl
rs2124478362	186	H>Y		No	Ensembl
rs1350804777	187	V>A		No	gnomAD
rs1350804777	187	V>E		No	gnomAD
rs1448250521	187	V>M		No	TOPMed gnomAD
rs2124478417	188	T>I		No	Ensembl
rs2124478417	188	T>S		No	Ensembl
rs2124478457	189	D>A		No	Ensembl
rs142165895	189	D>E		No	1000Genomes ESP ExAC TOPMed gnomAD
rs774822513	189	D>H		No	ExAC TOPMed gnomAD
COSM4845834 rs774822513 COSM4845833	189	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs2124478457	189	D>V		No	Ensembl
rs768086151	190	V>I		No	ExAC TOPMed gnomAD
TCGA novel	191	V>missing	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2124478530	191	V>G		No	Ensembl
COSM3356581 COSM3356580 rs2124478515	191	V>M	Variant assessed as Somatic; MODERATE impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs760194844	193	R>C		No	ExAC
rs760194844	193	R>G		No	ExAC
rs765907867	193	R>H		No	ExAC gnomAD
rs765907867	193	R>P		No	ExAC gnomAD
rs753501219	196	N>S		No	ExAC gnomAD
rs2124478637	197	H>L		No	Ensembl
rs752439263	198	E>A		No	ExAC gnomAD
rs764989100	198	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs764989100	198	E>Q		No	ExAC gnomAD
rs777617569	200	G>R		No	ExAC TOPMed gnomAD
COSM3488982 COSM3488983	202	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1641127729	204	N>D		No	Ensembl
rs1641127885	204	N>S		No	gnomAD
rs1298693210	206	G>A		No	TOPMed gnomAD
rs1489657294	206	G>R		No	gnomAD
rs890960275	207	Q>K		No	TOPMed
rs1471875952	207	Q>P		No	TOPMed gnomAD
TCGA novel rs2124485643	210	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs376672041	211	A>V		No	ESP ExAC TOPMed gnomAD
rs748944902	212	S>N		No	TOPMed gnomAD
rs2124485677	213	H>P		No	Ensembl
rs1031408044	214	L>F		No	gnomAD
rs1031408044	214	L>I		No	gnomAD
rs1332746087	216	R>C		No	TOPMed gnomAD
rs1641257558	216	R>H		No	gnomAD
rs1641257558 COSM341211	216	R>L	lung [Cosmic]	No	cosmic curated gnomAD
rs1641257558	216	R>P		No	gnomAD
rs2124485821	217	V>M		No	Ensembl
COSM3488985 COSM3488984	218	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1641258056	220	N>S		No	Ensembl
rs1641258056	220	N>T		No	Ensembl
rs780024061	222	L>F		No	ExAC TOPMed gnomAD
rs780024061	222	L>V		No	ExAC TOPMed gnomAD
rs753917723 COSM4856243 COSM4856242	223	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs2124485939	225	Y>C		No	Ensembl
rs1167026269	226	V>A		No	TOPMed gnomAD
TCGA novel	227	D>C	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs2124486001	227	D>N		No	Ensembl
rs1570610064	228	D>A		No	Ensembl
rs1641259855	229	P>S		No	TOPMed
rs1641259855	229	P>T		No	TOPMed
COSM3488986 COSM3488987	230	V>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1557574323	230	V>L		No	Ensembl
TCGA novel	232	G>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2124486116	232	G>D		No	Ensembl
rs778251633	232	G>R		No	ExAC gnomAD
rs778251633	232	G>S		No	ExAC gnomAD
rs770656238	236	V>I		No	ExAC TOPMed gnomAD
rs2124486218	237	V>E		No	Ensembl
rs2124486218	237	V>G		No	Ensembl
rs776034769	237	V>M		No	1000Genomes ExAC TOPMed gnomAD
rs2124486269	241	E>G		No	Ensembl
rs1641262876	242	P>S		No	TOPMed
rs1262263281	243	P>S		No	gnomAD
rs1298937423	245	V>M		No	TOPMed gnomAD
TCGA novel	246	G>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1205940639	246	G>R		No	gnomAD
rs1284747194	247	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1187008178	249	F>L		No	gnomAD
rs567288084	249	F>L		No	gnomAD
rs1570631906	250	T>P		No	Ensembl
rs746424182	250	T>S		No	ExAC gnomAD
rs756587247	252	I>V		No	ExAC TOPMed gnomAD
rs1641715835	257	M>I		No	TOPMed
rs2124517653	258	C>Y		No	Ensembl
rs776836333	263	V>A		No	Ensembl
TCGA novel	264	G>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2124517739	265	G>D		No	Ensembl
rs1641716898	266	M>K		No	Ensembl
rs1641716898	266	M>R		No	Ensembl
rs2124517796	268	R>Q		No	Ensembl
rs1298492509	268	R>W		No	Ensembl
rs768314469	269	R>Q		No	ExAC gnomAD
rs2124517818 TCGA novel	269	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs1381742069	270	P>A		No	TOPMed gnomAD
rs1381742069	270	P>S		No	TOPMed gnomAD
rs1381742069	270	P>T		No	TOPMed gnomAD
rs771944507	272	L>F		No	ExAC gnomAD
rs771944507	272	L>I		No	ExAC gnomAD
rs771944507	272	L>V		No	ExAC gnomAD
rs935821839	273	I>L		No	TOPMed gnomAD
rs935821839	273	I>V		No	TOPMed gnomAD
rs1240094541	275	I>T		No	gnomAD
rs1283849575	276	T>S		No	gnomAD
rs2124517951	277	L>M		No	Ensembl
rs2124517959	278	E>G		No	Ensembl
rs766378776	279	M>K		No	ExAC gnomAD
rs760710455	279	M>L		No	ExAC gnomAD
rs375226336	280	R>G		No	ESP ExAC gnomAD
rs763066676	280	R>Q		No	ExAC TOPMed gnomAD
rs375226336	280	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA gnomAD
rs367794295	281	D>E		No	ESP ExAC TOPMed gnomAD
rs1641720066	281	D>N		No	TOPMed gnomAD
rs2124520401	282	G>W		No	Ensembl
rs2124520429 COSM5993062 COSM5993061	283	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs2124520429	283	Q>K		No	Ensembl
rs2124520461	284	V>E		No	Ensembl
rs2124520508	286	G>A		No	Ensembl
rs2124520508	286	G>D		No	Ensembl
rs1228057623	287	R>C		No	TOPMed gnomAD
rs988674658	287	R>H		No	TOPMed gnomAD
rs528016587	288	R>Q		No	1000Genomes ExAC TOPMed gnomAD
rs755465237	288	R>W		No	TOPMed gnomAD
COSM3488995 COSM3488994	289	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2124520632	291	E>V		No	Ensembl
rs901552883	292	G>S		No	TOPMed gnomAD
rs1641779551	293	R>C		No	TOPMed
rs2124520679	293	R>H		No	Ensembl
rs1191971220	294	I>T		No	gnomAD
rs755840436	295	C>*		No	ExAC TOPMed gnomAD
rs1641780902 COSM5178470 COSM1342254	296	A>T	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated gnomAD
rs2124520741	297	C>Y		No	Ensembl
rs2124520760	298	P>L		No	Ensembl
rs2124520771	299	G>D		No	Ensembl
TCGA novel rs2124520803	300	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
TCGA novel	301	D>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs986713005	301	D>H		No	TOPMed gnomAD
rs1436693019	302	R>*		No	TOPMed gnomAD
rs1174268280	302	R>L		No	TOPMed gnomAD
rs1174268280	302	R>Q		No	TOPMed gnomAD
rs2124520877	304	A>P		No	Ensembl
rs1360143099	306	E>*		No	gnomAD
rs1418080210	306	E>D		No	gnomAD
rs2124520933	307	D>E		No	Ensembl
rs2124520951	308	H>Q		No	Ensembl
rs911134222	309	Y>H		No	TOPMed
rs745846284	310	R>Q		No	ExAC TOPMed gnomAD
rs781100930	310	R>W		No	ExAC TOPMed gnomAD
rs1401390950	311	E>K		No	TOPMed gnomAD
rs1641786136	312	Q>*		No	TOPMed
rs2124521072	312	Q>H		No	Ensembl
rs2124521090	313	Q>*		No	Ensembl
rs2124521105	314	A>T		No	Ensembl
rs2124521118	314	A>V		No	Ensembl
rs1235864444	316	N>D		No	gnomAD
rs1033197885	316	N>I		No	Ensembl
rs1303427518	316	N>K		No	TOPMed gnomAD
rs1033197885	316	N>S		No	Ensembl
TCGA novel rs1641787773	317	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs774496847	317	E>K		No	ExAC TOPMed gnomAD
rs1285953757	318	S>G		No	TOPMed
rs2124521266	318	S>R		No	Ensembl
rs1641788147	319	S>C		No	Ensembl
rs1641788147	319	S>F		No	Ensembl
rs2124521276	319	S>P		No	Ensembl
rs772181924	320	A>T		No	ExAC TOPMed gnomAD
rs549751757	321	K>R		No	1000Genomes ExAC gnomAD
rs1209573782	322	N>I		No	TOPMed gnomAD
rs929690061	322	N>K		No	TOPMed gnomAD
rs1013048481	323	G>E		No	TOPMed gnomAD
rs1455917415	323	G>R		No	gnomAD
rs2124521401	324	A>D		No	Ensembl
rs2124521388	324	A>P		No	Ensembl
rs2124521401	324	A>V		No	Ensembl
RCV000886314 rs61737710	325	A>T		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1239220396	326	S>G		No	TOPMed
TCGA novel rs2124521471	326	S>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs760120917	328	R>C		No	ExAC TOPMed gnomAD
rs760120917	328	R>G		No	ExAC TOPMed gnomAD
rs369265280	328	R>H		No	ESP ExAC TOPMed gnomAD
rs760120917	328	R>S		No	ExAC TOPMed gnomAD
rs1424811782	329	A>T		No	TOPMed gnomAD
rs368971928 TCGA novel	331	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC TOPMed NCI-TCGA
rs777862506	331	K>R		No	ExAC TOPMed gnomAD
rs965051517	333	S>G		No	gnomAD
rs202005425	333	S>R		No	ExAC TOPMed gnomAD
rs1641830329	334	P>L		No	Ensembl
COSM2080946 COSM1342255	335	P>L	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs746096915	335	P>S		No	ExAC TOPMed gnomAD
rs746096915	335	P>T		No	ExAC TOPMed gnomAD
rs1465274896	336	A>C	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1415791145	336	A>D		No	gnomAD
rs2124524144	336	A>P		No	Ensembl
rs1415791145	336	A>V		No	gnomAD
rs1216829318	337	V>A		No	gnomAD
COSM908805 rs202137544 COSM3934695	337	V>I	Variant assessed as Somatic; MODERATE impact. oesophagus endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1465467416	338	P>S		No	gnomAD
rs372828614	339	A>D		No	ESP ExAC TOPMed gnomAD
rs773998634	339	A>P		No	ExAC TOPMed gnomAD
rs773998634	339	A>T		No	ExAC TOPMed gnomAD
rs372828614	339	A>V		No	ESP ExAC TOPMed gnomAD
rs1282742447	340	L>P		No	TOPMed gnomAD
rs1486086468	341	G>D		No	TOPMed gnomAD
rs1259667361	342	A>T		No	TOPMed
rs2124524324	342	A>V		No	Ensembl
rs1474408603	343	G>A		No	gnomAD
rs1262191886	343	G>S		No	TOPMed gnomAD
rs146632180	347	R>L		No	ESP ExAC TOPMed gnomAD
rs146632180	347	R>P		No	ESP ExAC TOPMed gnomAD
rs146632180	347	R>Q		No	ESP ExAC TOPMed gnomAD
rs750085774	347	R>W		No	ExAC TOPMed gnomAD
rs369589289	348	R>G		No	ESP ExAC TOPMed gnomAD
rs753631424	348	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs369589289	348	R>W		No	ESP ExAC TOPMed gnomAD
rs2124524512	349	H>D		No	Ensembl
rs1641835632	350	G>E		No	TOPMed
rs1298049345	350	G>R		No	gnomAD
rs2124524567	351	D>N		No	Ensembl
rs1557585370	352	E>D		No	Ensembl
rs757395384	352	E>K		No	ExAC TOPMed gnomAD
rs374066676	354	T>M		No	1000Genomes ESP ExAC TOPMed gnomAD
rs374066676	354	T>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs781299594	354	T>S		No	ExAC TOPMed gnomAD
rs1641837711	356	Y>H		No	TOPMed gnomAD
rs749593342	357	L>F		No	ExAC gnomAD
rs866402828	358	Q>*		No	Ensembl
rs150322501	358	Q>H		No	ESP ExAC TOPMed gnomAD
rs764022846	359	V>A		No	ExAC gnomAD
rs764022846	359	V>E		No	ExAC gnomAD
rs764022846	359	V>G		No	ExAC gnomAD
rs1557587579	359	V>L		No	Ensembl
rs1557587579	359	V>M		No	Ensembl
COSM5134662 COSM316092 rs1275012082	360	R>*	lung Variant assessed as Somatic; HIGH impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs1275012082	360	R>G		No	TOPMed gnomAD
rs750479695	360	R>P		No	ExAC TOPMed gnomAD
rs750479695	360	R>Q		No	ExAC TOPMed gnomAD
rs1557587665	361	G>A		No	Ensembl
rs1557587665	361	G>D		No	Ensembl
rs2124531825	361	G>R		No	Ensembl
rs2124531825	361	G>S		No	Ensembl
rs1557587665	361	G>V		No	Ensembl
rs756287596	362	R>G		No	ExAC TOPMed gnomAD
rs200330726	362	R>P		No	1000Genomes ExAC TOPMed gnomAD
rs200330726	362	R>Q		No	1000Genomes ExAC TOPMed gnomAD
rs756287596	362	R>W		No	ExAC TOPMed gnomAD
rs1641943238	363	E>*		No	TOPMed
rs2124531973	363	E>G		No	Ensembl
rs1641943238	363	E>K		No	TOPMed
rs1641943238	363	E>Q		No	TOPMed
rs2124531973	363	E>V		No	Ensembl
rs2124532007	364	N>D		No	Ensembl
rs2124532019	364	N>I		No	Ensembl
rs2124532038	364	N>K		No	Ensembl
rs2124532019	364	N>S		No	Ensembl
rs2124532007	364	N>Y		No	Ensembl
rs2124532055	365	F>I		No	Ensembl
rs754166935	365	F>L		No	ExAC TOPMed gnomAD
rs1340219778	365	F>S		No	Ensembl
rs2124532090	366	E>*		No	Ensembl
rs1641943926	366	E>D		No	TOPMed
rs1641943762	366	E>G		No	TOPMed gnomAD
rs1641943762	366	E>V		No	TOPMed gnomAD
rs2124532134	367	I>N		No	Ensembl
rs2124532134	367	I>T		No	Ensembl
rs2124532158	368	L>M		No	Ensembl
rs2124532185	368	L>P		No	Ensembl
rs2124532185	368	L>Q		No	Ensembl
rs2124532158	368	L>V		No	Ensembl
rs2124532236	369	M>I		No	Ensembl
rs2124532214	369	M>K		No	Ensembl
rs1570643785	369	M>V		No	Ensembl
rs2124532245	370	K>*		No	Ensembl
rs2124532261	370	K>M		No	Ensembl
rs2124532278	370	K>N		No	Ensembl
rs2124532261	370	K>R		No	Ensembl
rs2124532307	371	L>Q		No	Ensembl
rs1474449073	371	L>V		No	gnomAD
rs2124532326	372	K>*		No	Ensembl
rs2124532326	372	K>E		No	Ensembl
rs1483021148	372	K>R		No	TOPMed gnomAD
rs1212159024	373	E>A		No	TOPMed gnomAD
COSM48818 rs1260107026	373	E>D	lung [Cosmic]	No	cosmic curated TOPMed
rs1212159024	373	E>G		No	TOPMed gnomAD
rs2124532362	373	E>Q		No	Ensembl
rs2124532411	374	S>C		No	Ensembl
rs2124532411	374	S>G		No	Ensembl
rs2124532432	374	S>R		No	Ensembl
rs2124532440	375	L>M		No	Ensembl
rs2124532460	375	L>Q		No	Ensembl
rs2124532440	375	L>V		No	Ensembl
rs2124532492	376	E>*		No	Ensembl
rs779452461	376	E>D		No	ExAC TOPMed gnomAD
rs2124532492	376	E>K		No	Ensembl
rs2124532492	376	E>Q		No	Ensembl
rs2124532509	376	E>V		No	Ensembl
rs866777863	377	L>M		No	Ensembl
rs2124532570	377	L>P		No	Ensembl
rs2124532570	377	L>Q		No	Ensembl
rs866777863	377	L>V		No	Ensembl
rs2124532597	378	M>I		No	Ensembl
rs758844370	378	M>K		No	ExAC TOPMed gnomAD
rs758844370	378	M>T		No	ExAC TOPMed gnomAD
rs778404209	379	E>D		No	ExAC
rs2124532626	379	E>G		No	Ensembl
rs2124532613	379	E>K		No	Ensembl
rs2124532613	379	E>Q		No	Ensembl
rs2124532626	379	E>V		No	Ensembl
rs2124532683	380	L>*		No	Ensembl
rs747465762	380	L>F		No	ExAC TOPMed gnomAD
rs1166295144	380	L>M		No	gnomAD
rs2124532683	380	L>S		No	Ensembl
rs1166295144	380	L>V		No	gnomAD
rs2124532713	381	V>E		No	Ensembl
rs2124532713	381	V>G		No	Ensembl
rs2124532702	381	V>M		No	Ensembl
rs2124532740	382	P>A		No	Ensembl
rs1641947080	382	P>L		No	gnomAD
rs1641947080	382	P>R		No	gnomAD
rs2124532740	382	P>S		No	Ensembl
rs1165665417	383	Q>*		No	TOPMed
rs2124532794	383	Q>H		No	Ensembl
rs1165665417	383	Q>K		No	TOPMed
rs2124532805	384	P>A		No	Ensembl
rs2124532805	384	P>S		No	Ensembl
rs2124532805	384	P>T		No	Ensembl
rs2124532845	385	L>V		No	Ensembl
TCGA novel	386	V>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs370770173	386	V>L		No	ESP ExAC gnomAD
rs2124532906	387	D>A		No	Ensembl
rs2124532906	387	D>G		No	Ensembl
rs1641948021	387	D>H		No	TOPMed
rs2124532906	387	D>V		No	Ensembl
rs1641948021	387	D>Y		No	TOPMed
rs1294884182	388	S>C		No	gnomAD
rs2124532942	388	S>P		No	Ensembl
rs2124532942	388	S>T		No	Ensembl
rs762748826	389	Y>C		No	ExAC gnomAD
rs762748826	389	Y>F		No	ExAC gnomAD
rs2124532983	389	Y>H		No	Ensembl
rs762748826	389	Y>S		No	ExAC gnomAD
rs1226557830	390	R>G		No	gnomAD
rs1314610892	390	R>Q		No	TOPMed gnomAD
COSM5614011 COSM5614010 rs1226557830	390	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
rs2124533085	391	Q>*		No	Ensembl
rs2124533085	391	Q>E		No	Ensembl
rs530995550	391	Q>L		No	1000Genomes ExAC TOPMed gnomAD
COSM316091 COSM1667092 rs530995550	391	Q>R	lung Variant assessed as Somatic; MODERATE impact. large_intestine [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs2124533142	392	Q>*		No	Ensembl
rs2124533142	392	Q>E		No	Ensembl
rs1570644256	392	Q>H		No	Ensembl
rs2124533142	392	Q>K		No	Ensembl
rs761635975	392	Q>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs2124533205	393	Q>*		No	Ensembl
rs2124533205	393	Q>E		No	Ensembl
rs2124533244	393	Q>H		No	Ensembl
rs2124533205	393	Q>K		No	Ensembl
rs2124533228	393	Q>L		No	Ensembl
rs2124533264	394	Q>*		No	Ensembl
rs2124533264	394	Q>E		No	Ensembl
rs2124533302	394	Q>H		No	Ensembl
rs2124533281	394	Q>L		No	Ensembl
rs2124533281	394	Q>R		No	Ensembl
rs2124533337	395	L>H		No	Ensembl
rs2124533323	395	L>I		No	Ensembl
rs2124533337	395	L>P		No	Ensembl
rs2124533323	395	L>V		No	Ensembl
rs1641950464	396	L>P		No	gnomAD
rs1641950464	396	L>Q		No	gnomAD
rs753933049	397	Q>*		No	ExAC TOPMed gnomAD
rs753933049	397	Q>E		No	ExAC TOPMed gnomAD
rs375217132	397	Q>H		No	ESP ExAC TOPMed gnomAD
rs753933049	397	Q>K		No	ExAC TOPMed gnomAD
rs765497694	398	R>G		No	ExAC gnomAD
rs1040139428	398	R>K		No	Ensembl
rs1433082216	398	R>S		No	TOPMed gnomAD
rs765497694	398	R>W		No	ExAC gnomAD
rs1191638867	399	P>A		No	TOPMed gnomAD
TCGA novel rs752956868	399	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA ExAC TOPMed gnomAD
rs752956868	399	P>Q		No	ExAC TOPMed gnomAD
rs752956868	399	P>R		No	ExAC TOPMed gnomAD
rs1191638867	399	P>S		No	TOPMed gnomAD
rs1191638867	399	P>T		No	TOPMed gnomAD
rs2124537072	400	S>T		No	Ensembl
rs1642003609	402	L>P		No	Ensembl
rs1161015919	402	L>V		No	TOPMed gnomAD
rs2124537127	403	Q>*		No	Ensembl
rs749264646	403	Q>R		No	ExAC TOPMed gnomAD
rs768765115	404	P>S		No	ExAC gnomAD
rs768765115	404	P>T		No	ExAC gnomAD
rs538874513	405	P>L		No	1000Genomes ExAC gnomAD
rs538874513	405	P>R		No	1000Genomes ExAC gnomAD
rs774501125	405	P>S		No	ExAC gnomAD
rs2124537211	406	S>T		No	Ensembl
rs761178877	407	Y>S		No	ExAC TOPMed gnomAD
rs2124537267	408	G>A		No	Ensembl
rs148453310	408	G>R		No	ESP ExAC TOPMed gnomAD
rs148453310	408	G>W		No	ESP ExAC TOPMed gnomAD
rs146810167	409	P>L		No	ESP ExAC TOPMed gnomAD
rs1373856927	410	V>I		No	TOPMed gnomAD
rs1373856927	410	V>L		No	TOPMed gnomAD
rs2124537335	411	L>I		No	Ensembl
rs1642006623	411	L>P		No	Ensembl
rs1642006623	411	L>R		No	Ensembl
rs1486545585	412	S>L		No	TOPMed gnomAD
rs2124537384	413	P>R		No	Ensembl
rs767903746	414	M>I		No	Ensembl
rs1241456028	414	M>T		No	gnomAD
rs1642007529	415	N>D		No	TOPMed
rs1642007737	415	N>K		No	Ensembl
rs1484844561	417	V>A		No	gnomAD
rs2124537481	418	H>P		No	Ensembl
rs139554277	418	H>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2124537523	419	G>A		No	Ensembl
rs912271457	419	G>R		No	TOPMed gnomAD
rs373171845	420	G>A		No	ESP ExAC gnomAD
rs373171845	420	G>D		No	ESP ExAC gnomAD
rs1642009156	420	G>R		No	TOPMed
rs373171845	420	G>V		No	ESP ExAC gnomAD
rs1642009570	422	N>D		No	TOPMed
rs377263998	422	N>K		No	ESP ExAC TOPMed gnomAD
rs2124537624	422	N>T		No	Ensembl
rs1642009941	425	P>L		No	Ensembl
rs2124537688	425	P>S		No	Ensembl
rs1434655074	427	V>A		No	TOPMed gnomAD
rs1434655074	427	V>D		No	TOPMed gnomAD
rs774443848	427	V>F		No	ExAC TOPMed gnomAD
rs774443848	427	V>I		No	ExAC TOPMed gnomAD
rs774443848	427	V>L		No	ExAC TOPMed gnomAD
rs748403609	428	N>I		No	ExAC TOPMed gnomAD
rs554550462	428	N>K		No	1000Genomes ExAC TOPMed gnomAD
rs2124537819	430	L>M		No	Ensembl
rs2124537834	431	V>G		No	Ensembl
rs1184799809	432	G>D		No	TOPMed
rs2124537875	433	Q>H		No	Ensembl
rs1642011895	434	P>L		No	gnomAD
rs2124537893	434	P>S		No	Ensembl
rs761086808	435	P>H		No	ExAC TOPMed gnomAD
rs761086808	435	P>L		No	ExAC TOPMed gnomAD
rs1642012067	435	P>S		No	TOPMed gnomAD
rs766763469	436	P>L		No	ExAC TOPMed gnomAD
rs766763469	436	P>Q		No	ExAC TOPMed gnomAD
rs1642012524	436	P>S		No	TOPMed
rs1642012524	436	P>T		No	TOPMed
rs1283286539	438	S>C		No	gnomAD
rs1642013663	438	S>I		No	gnomAD
rs1642013663	438	S>N		No	gnomAD
COSM3688828 COSM3688827 rs760067757	439	S>L	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs760067757	439	S>W		No	ExAC TOPMed gnomAD
rs1248517728	440	A>T		No	gnomAD
rs2124538150	440	A>V		No	Ensembl
rs2124538196	441	A>G		No	Ensembl
rs371086467	441	A>P		No	ESP ExAC TOPMed gnomAD
rs371086467	441	A>S		No	ESP ExAC TOPMed gnomAD
rs371086467	441	A>T		No	ESP ExAC TOPMed gnomAD
rs2124538196	441	A>V		No	Ensembl
rs758128145	442	T>I		No	ExAC gnomAD
rs2124538233	442	T>P		No	Ensembl
rs2124538299	443	P>H		No	Ensembl
rs574394443	443	P>S		No	1000Genomes ExAC TOPMed gnomAD
rs1642016512	445	L>Q		No	TOPMed
rs1642016327	445	L>V		No	Ensembl
rs1223663309	446	G>A		No	TOPMed gnomAD
rs1223663309	446	G>E		No	TOPMed gnomAD
rs1160589083	447	P>S		No	TOPMed gnomAD
rs751239958	448	V>M		No	ExAC TOPMed gnomAD
TCGA novel	449	G>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs972989673	449	G>D		No	TOPMed gnomAD
rs1642086948	450	P>H		No	TOPMed
rs1642086948	450	P>L		No	TOPMed
rs2124543020	450	P>T		No	Ensembl
rs2124543088	451	G>A		No	Ensembl
rs2124543088	451	G>E		No	Ensembl
rs747224214	451	G>R		No	ExAC TOPMed gnomAD
rs569845092	452	M>I		No	1000Genomes ExAC TOPMed gnomAD
rs2124543124	452	M>L		No	Ensembl
rs2124543124	452	M>V		No	Ensembl
rs2124543160	453	L>H		No	Ensembl
rs2124543160	453	L>P		No	Ensembl
rs1642088444	454	N>H		No	TOPMed
rs759990839	455	N>H		No	ExAC gnomAD
rs770268512	455	N>K		No	ExAC gnomAD
rs1642088807	455	N>S		No	gnomAD
rs775153625	456	H>Q		No	ExAC TOPMed gnomAD
rs1206398890	457	G>S		No	gnomAD
rs762610584	458	H>Q		No	ExAC TOPMed gnomAD
rs1257216713	458	H>R		No	TOPMed gnomAD
rs763689386	459	A>T		No	ExAC TOPMed gnomAD
rs1431406542	459	A>V		No	TOPMed gnomAD
rs2124543395	460	V>E		No	Ensembl
rs1642090633	460	V>M		No	TOPMed
rs2124543424	461	P>S		No	Ensembl
rs2124543449	462	A>D		No	Ensembl
rs2124543434	462	A>T		No	Ensembl
rs2124543449	462	A>V		No	Ensembl
rs150268231	463	N>K		No	ESP ExAC TOPMed gnomAD
rs954179236	463	N>T		No	TOPMed
rs761502228	464	G>S		No	ExAC TOPMed gnomAD
rs1421993962	465	E>K		No	TOPMed gnomAD
rs535311760	466	M>I		No	1000Genomes TOPMed
rs2124543526	466	M>L		No	Ensembl
rs2124543559	467	S>G		No	Ensembl
rs2124543593	467	S>N		No	Ensembl
rs913217326	468	S>C		No	TOPMed gnomAD
rs913217326	468	S>G		No	TOPMed gnomAD
rs2124543621	468	S>N		No	Ensembl
rs2124543621	468	S>T		No	Ensembl
rs2124543655	470	H>L		No	Ensembl
rs2124543655	470	H>P		No	Ensembl
rs2124543695	471	S>G		No	Ensembl
rs555012709	471	S>N		No	1000Genomes gnomAD
rs750168991	471	S>R		No	ExAC TOPMed gnomAD
rs369342367	472	A>P		No	ESP ExAC TOPMed gnomAD
rs369342367	472	A>S		No	ESP ExAC TOPMed gnomAD
COSM2080984 COSM2080985 rs369342367	472	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
rs753771804	475	M>V		No	ExAC gnomAD
rs2124543806	476	V>D		No	Ensembl
rs1042950968	476	V>I		No	Ensembl
rs1042950968	476	V>L		No	Ensembl
rs758514565	477	S>L		No	ExAC gnomAD
rs1557591453	478	G>A		No	Ensembl
TCGA novel	478	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1570652071	479	S>A		No	Ensembl
rs1267889579	479	S>F		No	gnomAD
rs1570652071	479	S>P		No	Ensembl
rs1343905880	480	H>N		No	gnomAD
rs1343905880	480	H>Y		No	gnomAD
rs1642097073	481	C>R		No	TOPMed
rs2124543991	481	C>Y		No	Ensembl
rs2124544003	482	T>P		No	Ensembl
rs2124544003	482	T>S		No	Ensembl
rs574845163	483	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs2124544025	483	P>S		No	Ensembl
rs2124544063	484	P>S		No	Ensembl
rs1642098334	485	P>H		No	TOPMed
rs1202475331	485	P>S		No	gnomAD
rs1202475331	485	P>T		No	gnomAD
rs761165205	486	P>H		No	TOPMed gnomAD
rs761165205	486	P>L		No	TOPMed gnomAD
rs761165205	486	P>R		No	TOPMed gnomAD
rs2124544147	486	P>T		No	Ensembl
rs1642099415	487	Y>*		No	TOPMed
rs1557591574	487	Y>D		No	Ensembl
rs1557591574	487	Y>H		No	Ensembl
COSM5160475 COSM1342258	487	Y>T	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs553745031	489	A>G		No	1000Genomes ExAC gnomAD
rs770269270	489	A>T		No	ExAC gnomAD
rs553745031	489	A>V		No	1000Genomes ExAC gnomAD
rs764474137	490	D>E		No	TOPMed gnomAD
rs1014620480	490	D>N		No	gnomAD
rs2124544323	491	P>T		No	Ensembl
rs763520159	492	S>N		No	ExAC gnomAD
rs2124544363	492	S>R		No	Ensembl
rs763520159	492	S>T		No	ExAC gnomAD
rs2124544384	493	L>P		No	Ensembl
rs1381544759	494	V>A		No	TOPMed gnomAD
rs768327423	494	V>I		No	ExAC TOPMed gnomAD
rs768327423	494	V>L		No	ExAC TOPMed gnomAD
rs528430755	495	S>G		No	TOPMed gnomAD
rs2124544459	495	S>N		No	Ensembl
rs759472201	495	S>R		No	ExAC TOPMed gnomAD
COSM2081001 COSM2081002	497	L>F	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs564190636	498	T>A		No	1000Genomes ExAC gnomAD
rs1381982214	499	G>R		No	Ensembl
rs1347590311	500	L>S		No	TOPMed gnomAD
rs1410521686	502	C>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1410521686	502	C>Y		No	gnomAD
rs757421403	503	P>L		No	ExAC TOPMed gnomAD
rs1642136560	504	N>D		No	TOPMed
rs1290590496	505	C>*		No	gnomAD
rs750706827	505	C>Y		No	ExAC TOPMed
rs1202773184 COSM3736909 COSM3736910	506	I>M	skin [Cosmic]	No	cosmic curated TOPMed gnomAD
rs143515986	507	E>D		No	ESP ExAC TOPMed gnomAD
rs1351687973	507	E>K		No	gnomAD
rs369898417	508	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs1570654530	510	T>I		No	Ensembl
rs2124546929	513	G>R		No	Ensembl
rs2124546964	516	S>G		No	Ensembl
rs748571847	517	I>M		No	ExAC gnomAD
rs755988598	517	I>T		No	ExAC gnomAD
rs1642139333	518	Y>H		No	TOPMed
rs771664969	519	H>Y		No	ExAC gnomAD
rs772552229	521	Q>H		No	ExAC TOPMed gnomAD
rs1461298262	522	N>S		No	TOPMed
rs746698674	525	I>L		No	ExAC
rs770506799	525	I>S		No	ExAC TOPMed gnomAD
rs770506799	525	I>T		No	ExAC TOPMed gnomAD
rs2124547130	526	E>G		No	Ensembl
rs1475897122	527	D>E		No	TOPMed gnomAD
rs1242463021	527	D>N		No	TOPMed
rs1189884365	529	G>R		No	gnomAD
rs754162945	530	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1234683788	530	A>V		No	TOPMed gnomAD
rs765668792	532	K>N		No	ExAC TOPMed gnomAD
rs778199387	535	E>K		No	ExAC gnomAD
rs778199387	535	E>Q		No	ExAC gnomAD
rs2124553462	535	E>V		No	Ensembl
rs2124553477	536	Q>*		No	Ensembl
rs1642235176	536	Q>R		No	Ensembl
rs780654718	538	R>C		No	ExAC TOPMed gnomAD
rs745542298	538	R>H		No	ExAC TOPMed gnomAD
rs745542298	538	R>L		No	ExAC TOPMed gnomAD
rs1434568920	539	M>V		No	gnomAD
rs1642236266	540	T>A		No	TOPMed
TCGA novel	540	T>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs779902863	543	R>L		No	ExAC TOPMed gnomAD
rs779902863	543	R>Q		No	ExAC TOPMed gnomAD
rs769290913	543	R>W		No	ExAC TOPMed gnomAD
rs1264419769	544	G>D		No	TOPMed
rs2124553638	545	L>P		No	Ensembl
rs2124553670	546	Q>*		No	Ensembl
rs768495559	546	Q>H		No	ExAC TOPMed gnomAD
rs1396501944	547	D>Y		No	TOPMed gnomAD
rs1210099450	548	L>P		No	TOPMed gnomAD
rs1642238086	550	Q>E		No	TOPMed
rs1213311141	551	G>A		No	TOPMed
rs1213311141	551	G>D		No	TOPMed
rs1268204401	551	G>S		No	gnomAD
rs1411023127	552	H>R		No	TOPMed gnomAD
rs542327780	553	D>G		No	Ensembl
rs544945068	553	D>H		No	1000Genomes ExAC TOPMed gnomAD
rs544945068	553	D>N		No	1000Genomes ExAC TOPMed gnomAD
rs544945068	553	D>Y		No	1000Genomes ExAC TOPMed gnomAD
rs1478577722	554	Y>H		No	TOPMed gnomAD
rs567801920	555	S>I		No	ExAC gnomAD
rs567801920	555	S>N		No	ExAC gnomAD
rs567801920	555	S>T		No	ExAC gnomAD
rs759812085	556	T>I		No	ExAC gnomAD
rs141383785	557	A>T		No	ESP ExAC TOPMed gnomAD
rs763291326	557	A>V		No	ExAC TOPMed gnomAD
rs2124553966	558	Q>*		No	Ensembl
rs2124553999	560	L>M		No	Ensembl
rs139568604	560	L>P		No	ESP ExAC TOPMed gnomAD
rs1348630458	561	L>F		No	gnomAD
COSM1648534 COSM535103 rs530648280	562	R>C	lung Variant assessed as Somatic; MODERATE impact. large_intestine [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs530648280	562	R>G		No	1000Genomes ExAC TOPMed gnomAD
rs144206303	562	R>H		No	ESP ExAC TOPMed gnomAD
rs144206303	562	R>P		No	ESP ExAC TOPMed gnomAD
rs1642242758	563	S>A		No	TOPMed gnomAD
rs1642242957	563	S>F		No	TOPMed
rs2124554106	564	S>R		No	Ensembl
COSM4929558 COSM4929557	565	N>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2124554120	565	N>T		No	Ensembl
rs369485809	566	A>E		No	ESP ExAC TOPMed gnomAD
rs151321774	566	A>T		No	ESP ExAC TOPMed gnomAD
rs369485809	566	A>V		No	ESP ExAC TOPMed gnomAD
rs2124554174	567	A>P		No	Ensembl
rs2124554174	567	A>T		No	Ensembl
rs776866797	568	T>I		No	ExAC gnomAD
rs745996110	569	I>T		No	ExAC TOPMed gnomAD
rs1183545239	569	I>V		No	gnomAD
rs866979978	570	S>P		No	Ensembl
rs775611773	572	G>S		No	ExAC TOPMed gnomAD
rs2124554320	573	G>D		No	Ensembl
rs147589532	573	G>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs147589532	573	G>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs867946889	574	S>A		No	Ensembl
rs867946889	574	S>P		No	Ensembl
rs1308590118	575	G>V		No	gnomAD
rs2124554394	576	E>G		No	Ensembl
rs2124554413	578	Q>*		No	Ensembl
rs2124554434	578	Q>P		No	Ensembl
rs2124554434	578	Q>R		No	Ensembl
TCGA novel	579	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM4735515 COSM4735514 rs376429700	579	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
rs142021792	579	R>S		No	ESP TOPMed gnomAD
rs957952389	581	R>Q		No	gnomAD
COSM908814 rs1271961675	581	R>W	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs370540828	582	V>A		No	ESP TOPMed
rs755620812	582	V>I		No	ExAC TOPMed gnomAD
rs2124554607	586	V>G		No	Ensembl
rs138694448	586	V>M		No	ESP ExAC TOPMed gnomAD
rs2124554635	587	H>P		No	Ensembl
rs1441161678	587	H>Y		No	gnomAD
rs778860468	588	F>L		No	ExAC gnomAD
rs747896985	589	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs758257291	589	R>H		No	ExAC TOPMed gnomAD
rs746931369	590	V>L		No	ExAC TOPMed gnomAD
rs746931369	590	V>M		No	ExAC TOPMed gnomAD
rs201509863 COSM1242950	591	R>C	oesophagus [Cosmic]	No	cosmic curated TOPMed gnomAD
rs769809364 COSM3689640 COSM3689641	591	R>H	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs769809364	591	R>L		No	ExAC TOPMed gnomAD
rs1335683419	593	T>A		No	gnomAD
rs1335683419	593	T>P		No	gnomAD
rs1340560307	594	I>T		No	gnomAD
rs1433665637	595	T>A		No	gnomAD
rs1433665637	595	T>P		No	gnomAD
rs768799603	596	I>T		No	ExAC gnomAD
rs1462934105	596	I>V		No	gnomAD
TCGA novel	597	P>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs928806410	599	R>C		No	TOPMed gnomAD
rs376856688	599	R>H		No	ESP ExAC TOPMed gnomAD
rs376856688	599	R>P		No	ESP ExAC TOPMed gnomAD
rs767838368	600	G>C		No	ExAC TOPMed gnomAD
rs1177306625	600	G>D		No	TOPMed
rs767838368	600	G>R		No	ExAC TOPMed gnomAD
rs767838368	600	G>S		No	ExAC TOPMed gnomAD
rs761195868	601	G>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs2124555041	602	P>Q		No	Ensembl
rs765838798	602	P>S		No	ExAC gnomAD
rs1366385677	603	G>R		No	TOPMed gnomAD
rs1450288965	604	G>D		No	gnomAD
rs143621977	604	G>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs752396818	605	G>S		No	ExAC TOPMed gnomAD
rs1174282030	606	P>S		No	TOPMed gnomAD
rs1402767646	607	D>E		No	TOPMed gnomAD
rs2124555235	607	D>G		No	Ensembl
rs1642257327	607	D>N		No	TOPMed gnomAD
rs2124555235	607	D>V		No	Ensembl
rs566124212	608	E>K		No	1000Genomes ExAC gnomAD
rs2124555281	609	W>G		No	Ensembl
rs2124555281	609	W>R		No	Ensembl
rs141747493	610	A>G		No	1000Genomes ESP ExAC gnomAD
rs1317921518	610	A>T		No	gnomAD
rs141747493	610	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ESP ExAC NCI-TCGA gnomAD
rs1642258580	611	D>A		No	TOPMed
rs1300096263	611	D>E		No	TOPMed gnomAD
rs1642258580	611	D>G		No	TOPMed
rs1235831848	613	G>R		No	TOPMed gnomAD
rs1235831848	613	G>S		No	TOPMed gnomAD
rs1275983986	614	F>L		No	TOPMed gnomAD
rs2124555444	615	D>G		No	Ensembl
rs1329052751	615	D>H		No	gnomAD
rs1329052751	615	D>N		No	gnomAD
rs2124555444	615	D>V		No	Ensembl
rs2124555476	617	P>S		No	Ensembl
rs1642259777	618	D>H		No	TOPMed
rs1642259777	618	D>N		No	TOPMed
rs571845429	619	C>G		No	1000Genomes ExAC TOPMed gnomAD
rs2124555557	619	C>Y		No	Ensembl
rs1429956829	621	A>D		No	gnomAD
rs1429956829	621	A>V		No	gnomAD
rs1472222989	622	R>C		No	gnomAD
rs1472222989	622	R>G		No	gnomAD
rs1156392721	622	R>H		No	TOPMed gnomAD
rs772450184	623	K>R		No	ExAC gnomAD
rs1453769103	624	Q>*		No	gnomAD
rs1453769103	624	Q>K		No	gnomAD
rs2124555682	624	Q>R		No	Ensembl
rs1388067084	625	P>L		No	gnomAD
rs2124555700	625	P>S		No	Ensembl
rs2124555740	626	I>S		No	Ensembl
rs113253012	626	I>V		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1350483927	627	K>R		No	gnomAD
rs1290688934	628	E>K		No	gnomAD
rs1244099689	629	E>*		No	gnomAD
rs1263952355	629	E>G		No	TOPMed gnomAD
rs1244099689	629	E>K		No	gnomAD
rs1489572436	630	F>Y		No	gnomAD
rs761092104	631	T>M		No	ExAC TOPMed gnomAD
rs2124555843	631	T>S		No	Ensembl
rs1482572864	632	E>K		No	TOPMed gnomAD
rs1482572864	632	E>Q		No	TOPMed gnomAD
rs771415425	633	A>T		No	ExAC TOPMed gnomAD
rs1011152005	634	E>D		No	TOPMed gnomAD
rs146782600	634	E>K		No	1000Genomes ESP ExAC TOPMed gnomAD
rs146782600	634	E>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2124555948	635	I>T		No	Ensembl
TCGA novel	636	H>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1366394683	636	H>N		No	gnomAD
rs2124555983	637	H>C		No	Ensembl

1 associated diseases with O15350

[MIM: 619466]: Ciliary dyskinesia, primary, 47, and lissencephaly (CILD47)

A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD47 is an autosomal recessive form characterized by onset soon after birth or in early childhood. Affected individuals also have neurologic features, such as impaired intellectual development and central hypotonia, associated with structural brain abnormalities, most notably lissencephaly and thin or absent corpus callosum. No situs abnormalities have been observed. . Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD47 is an autosomal recessive form characterized by onset soon after birth or in early childhood. Affected individuals also have neurologic features, such as impaired intellectual development and central hypotonia, associated with structural brain abnormalities, most notably lissencephaly and thin or absent corpus callosum. No situs abnormalities have been observed. . Note=The disease is caused by variants affecting the gene represented in this entry.

4 regional properties for O15350

Type	Name	Position	InterPro Accession
domain	Sterile alpha motif domain	485 - 551	IPR001660
domain	p53, tetramerisation domain	345 - 384	IPR010991
domain	p53, DNA-binding domain	118 - 308	IPR011615
domain	Tumour protein p73, SAM domain	487 - 551	IPR037612

Functions

		Description
EC Number
Subcellular Localization	Nucleus Cytoplasm	Accumulates in the nucleus in response to DNA damage
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
cell junction	A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella.
chromatin	The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
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.

13 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.
DNA-binding transcription factor binding	Binding to a DNA-binding transcription factor, a protein that interacts with a specific DNA sequence (sometimes referred to as a motif) within the regulatory region of a gene to modulate transcription.
identical protein binding	Binding to an identical protein or proteins.
MDM2/MDM4 family protein binding	Binding to a member of the MDM2/MDM4 protein family, comprising negative regulators of p53.
metal ion binding	Binding to a metal ion.
p53 binding	Binding to one of the p53 family of proteins.
protein kinase binding	Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.
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.
transcription cis-regulatory region binding	Binding to a specific sequence of DNA that is part of a regulatory region that controls transcription of that section of the DNA. The transcribed region might be described as a gene, cistron, or operon.
transcription corepressor binding	Binding to a transcription corepressor, a protein involved in negative regulation of transcription via protein-protein interactions with transcription factors and other proteins that negatively regulate transcription. Transcription corepressors do not bind DNA directly, but rather mediate protein-protein interactions between repressing transcription factors and the basal transcription machinery.

22 GO annotations of biological process

Name	Definition
cell cycle	The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division.
DNA damage response	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 damage to its DNA from environmental insults or errors during metabolism.
intrinsic apoptotic signaling pathway in response to DNA damage	The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced by the detection of DNA damage, and ends when the execution phase of apoptosis is triggered.
intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced by the cell cycle regulator phosphoprotein p53, or an equivalent protein, in response to the detection of DNA damage, and ends when the execution phase of apoptosis is triggered.
kidney development	The process whose specific outcome is the progression of the kidney over time, from its formation to the mature structure. The kidney is an organ that filters the blood and/or excretes the end products of body metabolism in the form of urine.
mismatch repair	A system for the correction of errors in which an incorrect base, which cannot form hydrogen bonds with the corresponding base in the parent strand, is incorporated into the daughter strand. The mismatch repair system promotes genomic fidelity by repairing base-base mismatches, insertion-deletion loops and heterologies generated during DNA replication and recombination.
negative regulation of cardiac muscle cell proliferation	Any process that stops, prevents, or reduces the frequency, rate or extent of cardiac muscle cell proliferation.
negative regulation of cell population proliferation	Any process that stops, prevents or reduces the rate or extent of cell proliferation.
negative regulation of neuron differentiation	Any process that stops, prevents, or reduces the frequency, rate or extent of neuron differentiation.
positive regulation of apoptotic process	Any process that activates or increases the frequency, rate or extent of cell death by apoptotic 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 lung ciliated cell differentiation	Any process that activates or increases the frequency, rate or extent of lung ciliated cell differentiation.
positive regulation of MAPK cascade	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade.
positive regulation of oligodendrocyte differentiation	Any process that activates or increases the frequency, rate or extent of oligodendrocyte differentiation.
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.
protein tetramerization	The formation of a protein tetramer, a macromolecular structure consisting of four noncovalently associated identical or nonidentical subunits.
regulation of cell cycle	Any process that modulates the rate or extent of progression through the cell cycle.
regulation of gene expression	Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
regulation of mitotic cell cycle	Any process that modulates the rate or extent of progress through the mitotic cell cycle.
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 organonitrogen compound	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 an organonitrogen stimulus. An organonitrogen compound is formally a compound containing at least one carbon-nitrogen bond.
response to xenobiotic stimulus	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 stimulus from a xenobiotic, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.

6 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P04637	TP53	Cellular tumor antigen p53	Homo sapiens (Human)	EV
Q9H3D4	TP63	Tumor protein 63	Homo sapiens (Human)	EV
O88898	Tp63	Tumor protein 63	Mus musculus (Mouse)	SS
Q9JJP2	Tp73	Tumor protein p73	Mus musculus (Mouse)	SS
Q9JJP6	Tp63	Tumor protein 63	Rattus norvegicus (Rat)	SS
P10361	Tp53	Cellular tumor antigen p53	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MAQSTATSPD	GGTTFEHLWS	SLEPDSTYFD	LPQSSRGNNE	VVGGTDSSMD	VFHLEGMTTS
70	80	90	100	110	120
VMAQFNLLSS	TMDQMSSRAA	SASPYTPEHA	ASVPTHSPYA	QPSSTFDTMS	PAPVIPSNTD
130	140	150	160	170	180
YPGPHHFEVT	FQQSSTAKSA	TWTYSPLLKK	LYCQIAKTCP	IQIKVSTPPP	PGTAIRAMPV
190	200	210	220	230	240
YKKAEHVTDV	VKRCPNHELG	RDFNEGQSAP	ASHLIRVEGN	NLSQYVDDPV	TGRQSVVVPY
250	260	270	280	290	300
EPPQVGTEFT	TILYNFMCNS	SCVGGMNRRP	ILIIITLEMR	DGQVLGRRSF	EGRICACPGR
310	320	330	340	350	360
DRKADEDHYR	EQQALNESSA	KNGAASKRAF	KQSPPAVPAL	GAGVKKRRHG	DEDTYYLQVR
370	380	390	400	410	420
GRENFEILMK	LKESLELMEL	VPQPLVDSYR	QQQQLLQRPS	HLQPPSYGPV	LSPMNKVHGG
430	440	450	460	470	480
MNKLPSVNQL	VGQPPPHSSA	ATPNLGPVGP	GMLNNHGHAV	PANGEMSSSH	SAQSMVSGSH
490	500	510	520	530	540
CTPPPPYHAD	PSLVSFLTGL	GCPNCIEYFT	SQGLQSIYHL	QNLTIEDLGA	LKIPEQYRMT
550	560	570	580	590	600
IWRGLQDLKQ	GHDYSTAQQL	LRSSNAATIS	IGGSGELQRQ	RVMEAVHFRV	RHTITIPNRG
610	620	630
GPGGGPDEWA	DFGFDLPDCK	ARKQPIKEEF	TEAEIH