AiPD: Autoinhibited Protein Database

Q9H3D4

Gene name	TP63 (KET, P63, P73H, P73L, TP73L)
Protein name	Tumor protein 63
Names	p63 , Chronic ulcerative stomatitis protein , CUSP , Keratinocyte transcription factor KET , Transformation-related protein 63 , TP63 , Tumor protein p73-like , p73L , p40 , p51
Species	Homo sapiens (Human)
KEGG Pathway	hsa:8626
EC number
Protein Class	CELLULAR TUMOR ANTIGEN P53 (PTHR11447)

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)

Target domain	588-922 (Tetramerization domain)
Relief mechanism	PTM, Cleavage, Others
Assay	Structural analysis, Peptide inhibitor test

AID

415-455 (TA domain)

Target domain

588-922 (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

Structural analysis, Peptide inhibitor test

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

25 structures for Q9H3D4

Entry ID	Method	Resolution	Chain	Position	Source
1RG6	NMR	-	A	540-614	PDB
2NB1	NMR	-	A/C	397-455	PDB
2RMN	NMR	-	A	153-388	PDB
2Y9T	NMR	-	A	543-622	PDB
2Y9U	X-ray	160 A	A	545-611	PDB
3QYM	X-ray	320 A	A/B/C/D/E/F/G/H	166-362	PDB
3QYN	X-ray	250 A	A/B/C/D	166-362	PDB
3US0	X-ray	250 A	A/B/C/D	166-362	PDB
3US1	X-ray	280 A	A/D	166-362	PDB
3US2	X-ray	420 A	A/B/C/D/G/H/I/J	166-362	PDB
3ZY0	X-ray	190 A	A/B/C/D	398-427	PDB
3ZY1	X-ray	215 A	A	398-441	PDB
4A9Z	X-ray	229 A	A/B/C/D	397-455	PDB
6FGN	NMR	-	A	47-73	PDB
6RU6	X-ray	205 A	C	618-630	PDB
6RU7	X-ray	208 A	C/D	618-633	PDB
6RU8	X-ray	192 A	E/F/G/H	621-632	PDB
7Z71	X-ray	185 A	A/C	162-363	PDB
7Z72	X-ray	180 A	A	545-611	PDB
7Z73	X-ray	227 A	A/B/C/D	397-455	PDB
7Z7E	X-ray	180 A	A	162-363	PDB
8P9C	X-ray	176 A	A	397-455	PDB
8P9D	X-ray	270 A	A/C	397-455	PDB
8P9E	X-ray	225 A	A	397-455	PDB
AF-Q9H3D4-F1	Predicted				AlphaFoldDB

1388 variants for Q9H3D4

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs568702479 RCV002480958 RCV002125117	7	R>L	TP63-Related Spectrum Disorders ADULT syndrome [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV002479438 rs1408730457 RCV001917025	17	P>R	TP63-Related Spectrum Disorders ADULT syndrome [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
VAR_088375	18	Y>C	POF21; uncertain significance; no effect on transcriptional activation in a luciferase reporter assay; does not affect oligomerization [UniProt]	Yes	UniProt
RCV001150757 rs1452651956 RCV001150759 RCV001150758	21	R>C	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 TP63-Related Spectrum Disorders Orofacial cleft 8 [ClinVar]	Yes	ClinVar dbSNP gnomAD
rs766583971 RCV002011531 RCV002479771	21	R>H	TP63-Related Spectrum Disorders ADULT syndrome [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001144654 rs370716448 RCV001144653 RCV001144652	28	H>Q	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 TP63-Related Spectrum Disorders Orofacial cleft 8 [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000791566 RCV003411742 rs147340040	37	R>*	Variant assessed as Somatic; HIGH impact. TP63-Related Spectrum Disorders TP63-related condition [NCI-TCGA, ClinVar]	Yes	ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001922562 COSM1593517 rs754361670 RCV002482760 COSM1042483	37	R>Q	TP63-Related Spectrum Disorders Variant assessed as Somatic; MODERATE impact. endometrium ADULT syndrome [ClinVar, NCI-TCGA, Cosmic]	Yes	NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV002001328 rs2108795564	42	Q>L	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001144657 RCV001144656 RCV001144655 rs201631366	70	Q>H	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 TP63-Related Spectrum Disorders Orofacial cleft 8 [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV002002063 rs372543100	96	I>V	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA118346 RCV000006924 RCV001851711 rs121908848	97	R>C	TP63-Related Spectrum Disorders Split hand-foot malformation 4 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs752080701 RCV001855687 RCV000732570 RCV002477715	97	R>H	TP63-Related Spectrum Disorders ADULT syndrome [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
VAR_088376	97	R>P	POF21; uncertain significance; results in increased transcriptional activation in a luciferase reporter assay; affects oligomerization [UniProt]	Yes	UniProt
RCV001993140 rs2108636995	110	Q>*	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinVar Ensembl dbSNP
CA355750420 rs1553845417 RCV000623982	124	I>T	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs982556895 RCV001866009 RCV001568515	125	Q>P	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
rs1401203192 RCV001895082	137	D>E	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinVar dbSNP gnomAD
CA2752130 RCV000371721 rs762935508 RCV000317111 RCV000286634	137	D>H	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 TP63-Related Spectrum Disorders Orofacial cleft 8 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
COSM1593515 COSM1042486 rs762371837 RCV002213566	150	A>T	TP63-Related Spectrum Disorders Variant assessed as Somatic; MODERATE impact. endometrium [ClinVar, NCI-TCGA, Cosmic]	Yes	NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA dbSNP
RCV001875443 rs767384779	158	A>V	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
RCV002211558 rs752603187	159	L>F	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV000692960 rs1560204733 RCV003233820	163	P>S	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs1560204773 RCV000693615	166	P>H	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV000624261 CA355750689 rs1553845515	167	S>F	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA16604496 rs1057521750 RCV000429171 RCV000695697	173	G>R	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1057521750 RCV002000613	173	G>S	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV002022541 rs1002291717	180	S>A	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
rs2108638585 RCV002244562	188	K>missing	Split hand-foot malformation 4 [ClinVar]	Yes	ClinVar dbSNP
rs866938979 COSM3846992 COSM3846991 RCV001551557 RCV002300548 COSM3846993	189	S>L	TP63-Related Spectrum Disorders Variant assessed as Somatic; MODERATE impact. breast [ClinVar, NCI-TCGA, Cosmic]	Yes	NCI-TCGA Cosmic cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
rs2108638610 RCV001925684	191	T>S	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs1727180191 RCV001933292	193	T>R	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
VAR_032736	193	T>TP	SHFM4 [UniProt]	Yes	UniProt
COSM1693948 COSM1693947 rs767553568 COSM3591173 RCV002124758	216	M>I	TP63-Related Spectrum Disorders Variant assessed as Somatic; MODERATE impact. skin [ClinVar, NCI-TCGA, Cosmic]	Yes	cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD NCI-TCGA Cosmic NCI-TCGA
rs757669482 RCV001910897	224	V>L	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs550991181 RCV001891508	225	I>F	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs550991181 RCV001513730	225	I>V	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA174179 RCV000149048 rs193921145 COSM3408508 COSM3408509 COSM1179606	226	R>H	Malignant tumor of prostate Variant assessed as Somatic; MODERATE impact. central_nervous_system prostate [ClinVar, NCI-TCGA, Cosmic]	Yes	ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001354747 RCV001150860 RCV001150861 RCV001150859 rs201466089	230	V>L	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 TP63-Related Spectrum Disorders Orofacial cleft 8 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs1560274243 VAR_032737 RCV000695736	232	K>E	TP63-Related Spectrum Disorders SHFM4 [ClinVar, UniProt]	Yes	ClinVar UniProt Ensembl dbSNP
RCV000006904 VAR_020869 rs121908838 CA118337	233	K>E	Split hand-foot malformation 4 SHFM4 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000692164 rs1560274283	233	K>T	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinVar dbSNP
rs576751351 RCV001912395 COSM1738822 COSM1738823	237	V>I	TP63-Related Spectrum Disorders NS haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV002250454 rs121908836 VAR_020870 RCV001804714 CA118335 RCV000705452 RCV000006901	243	R>Q	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 TP63-Related Spectrum Disorders Split hand-foot malformation 4 EEC3 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
VAR_020871 rs121908835 CA118334 RCV000394306 RCV000006900 RCV002283440 RCV000812084	243	R>W	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 Rapp-Hodgkin ectodermal dysplasia syndrome TP63-Related Spectrum Disorders EEC3 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
RCV000809190 rs1192374789	246	N>K	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
RCV000821003 RCV000206266 rs864621968 CA339766 RCV000312203	247	H>R	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000559680 RCV000851194 rs1553856553 CA355753773	247	H>Y	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
COSM1651370 COSM5099729 RCV001317802 COSM1042490 rs747009931	266	R>*	Variant assessed as Somatic; HIGH impact. TP63-Related Spectrum Disorders large_intestine endometrium [NCI-TCGA, ClinVar, Cosmic]	Yes	NCI-TCGA Cosmic cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
RCV002003678 rs121908849	266	R>L	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs121908849 RCV000023290	266	R>P	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [ClinVar]	Yes	ClinVar Ensembl dbSNP
COSM3591180 COSM3591181 VAR_032738 CA118348 RCV000006926 rs121908849 RCV000413620 RCV001390108 COSM3591182 RCV000006925	266	R>Q	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 TP63-Related Spectrum Disorders Variant assessed as Somatic; MODERATE impact. ADULT syndrome EEC3 [ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen NCI-TCGA Cosmic ClinVar UniProt Ensembl NCI-TCGA dbSNP
RCV001362555 RCV003333764 rs768752805	267	V>I	TP63-Related Spectrum Disorders ADULT syndrome [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
RCV003154197 rs2108801803 RCV001808011	268	E>K	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 ADULT syndrome [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs1560277554 RCV000710017	274	Q>missing	Orofacial cleft 8 [ClinVar]	Yes	ClinVar dbSNP
RCV001041813 rs1717775898	283	R>G	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs754624330 VAR_088377	285	S>N	POF21; uncertain significance; no effect on transcriptional activation in a luciferase reporter assay; does not affect oligomerization [UniProt]	Yes	ExAC TOPMed gnomAD UniProt
rs2108801923 RCV001809126	287	L>missing	Rapp-Hodgkin ectodermal dysplasia syndrome [ClinVar]	Yes	ClinVar dbSNP
rs2108801985 RCV001729984	294	Q>R	Split hand-foot malformation 4 [ClinVar]	Yes	ClinVar Ensembl dbSNP
CA10618212 RCV000323844 RCV000355035 rs886058222 RCV000259317	300	T>K	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 TP63-Related Spectrum Disorders Orofacial cleft 8 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
VAR_032739 rs1717925063	308	C>Y	EEC3 [UniProt]	Yes	Ensembl UniProt
RCV001984339 rs2108804396	310	S>N	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV000804668 rs1577145611	311	S>missing	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinVar dbSNP
VAR_032740	311	S>N	EEC3 [UniProt]	Yes	UniProt
RCV000807212 rs1057520664	312	C>F	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinVar Ensembl dbSNP
VAR_032741 rs1205536026 RCV003411777 RCV000805973 RCV001545357	318	R>C	TP63-Related Spectrum Disorders TP63-related condition EEC3 [ClinVar, UniProt]	Yes	ClinVar UniProt Ensembl dbSNP
CA118339 rs121908840 VAR_020873 RCV000006907 RCV000548176 RCV000478736 RCV000006906	318	R>H	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 Rapp-Hodgkin ectodermal dysplasia syndrome TP63-Related Spectrum Disorders Variant assessed as Somatic; MODERATE impact. EEC3 and RHS; does not decrease the transcriptional activity of the isoform 5 on a TP53 reporter system but disrupts the dominant-negative activity of isoform 2 and isoform 5 on the transcriptional activity of TP53 [ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP
VAR_032742	318	R>Q	EEC3 [UniProt]	Yes	UniProt
RCV000006905 rs121908839 CA118338 RCV003162215 RCV002512857 VAR_020874 RCV001280776	319	R>C	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 TP63-Related Spectrum Disorders Split hand-foot malformation 4 EEC3 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_032743 COSM5018616 COSM5018617 CA10588353 RCV002518757 rs886039442 RCV000255404 COSM5018618	319	R>H	TP63-Related Spectrum Disorders Variant assessed as Somatic; MODERATE impact. EEC3 and SHFM4 [ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen NCI-TCGA Cosmic ClinVar UniProt Ensembl NCI-TCGA dbSNP
VAR_032744	319	R>S	EEC3 [UniProt]	Yes	UniProt
rs1033329267 RCV001931596	321	I>V	TP63-Related Spectrum Disorders Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA]	Yes	ClinVar NCI-TCGA TOPMed dbSNP gnomAD
rs2108804508 RCV003407806 RCV001783894	324	I>missing	TP63-related condition [ClinVar]	Yes	ClinVar dbSNP
RCV001726542 RCV001382756 rs2108806204	336	G>D	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs113993966 RCV001280741 CA340600 RCV000006923	337	R>G	ADULT syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_020875 rs113993967 RCV000794231 CA340599 RCV000006914 RCV001781195 COSM1308942	337	R>Q	TP63-Related Spectrum Disorders Variant assessed as Somatic; MODERATE impact. urinary_tract ADULT syndrome ADULT syndrome; confers novel transcription activation capacity on isoform 6 [ClinVar, NCI-TCGA, Cosmic, UniProt]	Yes	ClinGen NCI-TCGA Cosmic cosmic curated ClinVar UniProt NCI-TCGA TOPMed dbSNP
rs1404019220 RCV001849646	338	R>C	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
rs886041251 RCV001359642	343	R>G	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV000006908 VAR_020876 RCV000276670 CA118340 rs121908841 COSM268529 RCV001266717 RCV000655484	343	R>Q	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 TP63-Related Spectrum Disorders Variant assessed as Somatic; MODERATE impact. large_intestine Inborn genetic diseases EEC3 [ClinVar, NCI-TCGA, Cosmic, UniProt]	Yes	ClinGen NCI-TCGA Cosmic cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
RCV000371222 RCV001050126 rs886041251 RCV003152702 CA10602901 VAR_032745	343	R>W	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 TP63-Related Spectrum Disorders EEC3 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_020877 CA118336 rs121908837 RCV000006902	345	C>R	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 EEC3; abolishes transcription activation [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000190455 CA204448 rs797044484	346	A>G	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1064793282 VAR_032746	347	C>S	EEC3 [UniProt]	Yes	Ensembl UniProt
rs1577147850 RCV000816938	348	P>A	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs1560280393 RCV000705867	348	P>L	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinVar Ensembl dbSNP
VAR_032747 rs1577147850	348	P>S	EEC3 [UniProt]	Yes	Ensembl UniProt
rs2108806489 RCV001372592	350	R>S	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinVar Ensembl dbSNP
VAR_020878 CA118341 RCV000326964 rs121908844 RCV000006915	351	D>G	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 EEC3 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs2108806492 VAR_032748	351	D>H	EEC3 [UniProt]	Yes	Ensembl UniProt
VAR_035127 CA118344 RCV000006922 rs121908847 RCV002467435	352	R>G	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 Orofacial cleft 8 OFC8 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV002290573 rs1718026198 RCV001049615	354	A>E	TP63-Related Spectrum Disorders Split hand-foot malformation 4 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs1553857889 RCV000655483 CA355755231	355	D>N	TP63-Related Spectrum Disorders Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
rs556383197 RCV001905916	371	G>S	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001342203 rs199807776 RCV002486385	374	T>M	TP63-Related Spectrum Disorders ADULT syndrome [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV002073371 COSM1268384 rs143591434 RCV001720461	376	R>H	TP63-Related Spectrum Disorders oesophagus [ClinVar, Cosmic]	Yes	cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs148052765 RCV001926968	377	P>L	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
COSM267624 rs576449010 RCV002028380	377	P>S	TP63-Related Spectrum Disorders Variant assessed as Somatic; MODERATE impact. large_intestine [ClinVar, NCI-TCGA, Cosmic]	Yes	NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1718128235 RCV001197927	390	I>N	Limb-mammary syndrome [ClinVar]	Yes	ClinVar Ensembl dbSNP
COSM3591210 RCV002540208 COSM3591209 rs558374141 COSM3591211	434	T>M	TP63-Related Spectrum Disorders Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA]	Yes	NCI-TCGA Cosmic ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs2108818734 RCV001870924	440	Q>H	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs2108818787 RCV002030493	445	H>R	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV002479739 rs747305746 RCV002022652	451	T>S	TP63-Related Spectrum Disorders ADULT syndrome [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV002122523 rs201479097 RCV002464516	456	P>L	TP63-Related Spectrum Disorders Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA]	Yes	ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs775037738 RCV002479821 RCV002036054	465	P>L	TP63-Related Spectrum Disorders ADULT syndrome [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs369453583 RCV003167193 RCV001947977	467	N>S	TP63-Related Spectrum Disorders Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases [ClinVar, NCI-TCGA]	Yes	ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs755205138 RCV001890601	472	M>I	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinVar dbSNP gnomAD
rs2108854448 RCV001968945	483	N>K	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV002209832 RCV003403678 rs777306829	487	R>C	TP63-Related Spectrum Disorders TP63-related condition [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs756653133 RCV001908495	488	N>K	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001150949 COSM1042496 RCV001150948 COSM5633981 RCV001150950 rs138832017	489	A>T	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 TP63-Related Spectrum Disorders Variant assessed as Somatic; MODERATE impact. endometrium Orofacial cleft 8 [ClinVar, NCI-TCGA, Cosmic]	Yes	NCI-TCGA Cosmic cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs2108854518 RCV001966998	492	P>L	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV002132136 rs200203171	494	T>A	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs2108854569 RCV002043063	498	G>S	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs267599730 COSM23541 RCV002029808	499	M>I	TP63-Related Spectrum Disorders skin [ClinVar, Cosmic]	Yes	cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
RCV001150952 RCV001150953 RCV001150951 rs1487186623	508	T>I	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 TP63-Related Spectrum Disorders Orofacial cleft 8 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
RCV001908725 RCV003303347 rs200578530	510	M>I	TP63-Related Spectrum Disorders Inborn genetic diseases [ClinVar]	Yes	1000Genomes ExAC TOPMed gnomAD ClinVar dbSNP
RCV000987374 rs769778189 RCV001858664	510	M>L	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001572958 RCV000384210 RCV000351504 RCV000296599 RCV002480032 rs148076109 CA2752518 RCV000399267	511	P>T	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 TP63-Related Spectrum Disorders Orofacial cleft 8 ADULT syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001864370 rs1196701463	513	A>P	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
RCV002019477 rs1196701463	513	A>T	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
rs2108861443 RCV001878641	517	N>S	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV000498637 rs1478677560 CA355758265 RCV003419844 RCV001865567	518	G>E	TP63-Related Spectrum Disorders TP63-related condition [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV002466729 RCV001971798 rs1403304957	524	A>T	TP63-Related Spectrum Disorders ADULT syndrome [ClinVar]	Yes	ClinVar dbSNP gnomAD
RCV001993510 rs1323039634	525	L>F	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
rs761041436 RCV002508326 RCV001888941	528	P>Q	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001941997 rs2108861558	529	L>missing	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinVar dbSNP
RCV002012813 RCV002486578 rs565094952 VAR_088378	538	T>A	TP63-Related Spectrum Disorders ADULT syndrome POF21; uncertain significance; no effect on transcriptional activation in a luciferase reporter assay; does not affect oligomerization [ClinVar, UniProt]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD UniProt
rs121908845 RCV000006919 VAR_035128 RCV000006918 CA118342	549	I>T	Rapp-Hodgkin ectodermal dysplasia syndrome Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome RHS [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001298548 CA10588354 RCV000255981 rs886039443	552	F>C	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_020879 rs121908842 CA253874 RCV000006909	553	L>F	Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome AEC [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001390109 rs2108864735 RCV003136064	557	G>V	TP63-Related Spectrum Disorders ADULT syndrome [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs121908843 VAR_020881 CA253875 RCV001067605 RCV000006910	561	C>G	TP63-Related Spectrum Disorders Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome Variant assessed as Somatic; MODERATE impact. AEC [ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP
RCV000414275 CA16042469 rs1057518399 RCV002523954	561	C>Y	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs774221257 RCV000850386	562	L>P	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
RCV000006903 rs2108864810	564	Y>*	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs2108864814 RCV000006912	565	F>missing	Limb-mammary syndrome [ClinVar]	Yes	ClinVar dbSNP
rs2108864831 RCV001973838 RCV002007150	565	F>L	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs1577206350 RCV000805566	565	F>V	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001346460 COSM129867 RCV002493783 rs745687224	566	T>M	upper_aerodigestive_tract TP63-Related Spectrum Disorders ADULT syndrome [Cosmic, ClinVar]	Yes	cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
rs1041183255 VAR_088379	567	T>I	POF21; uncertain significance; no effect on transcriptional activation in a luciferase reporter assay; does not affect oligomerization [UniProt]	Yes	Ensembl UniProt
RCV001204027 rs1720945373	571	T>P	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV000413999 RCV000534217 CA16042490 rs1057517841 RCV003409575	576	I>T	TP63-Related Spectrum Disorders TP63-related condition [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs121908846 RCV000006920 CA118343 VAR_035129	580	S>P	Rapp-Hodgkin ectodermal dysplasia syndrome RHS [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
rs1577213305 RCV000824374 COSM1042498	583	D>V	TP63-Related Spectrum Disorders Variant assessed as Somatic; MODERATE impact. endometrium [ClinVar, NCI-TCGA, Cosmic]	Yes	NCI-TCGA Cosmic cosmic curated ClinVar Ensembl dbSNP
rs900140738 RCV003159542 COSM3591234 RCV000766166 COSM285877	594	R>*	Variant assessed as Somatic; HIGH impact. large_intestine endometrium Premature ovarian failure 21 [NCI-TCGA, Cosmic, ClinVar]	Yes	NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD
VAR_088380	594	R>del	POF21; results in increased transcriptional activation in luciferase reporter assays; affects oligomerization [UniProt]	Yes	UniProt
rs2108873176 RCV001836681	597	I>F	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs1577213466 RCV000995905	597	I>T	Rapp-Hodgkin ectodermal dysplasia syndrome [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs1560311010 RCV003159543 RCV000766167	598	W>*	Premature ovarian failure 21 [ClinVar]	Yes	ClinVar Ensembl dbSNP
VAR_088381	598	W>del	POF21 [UniProt]	Yes	UniProt
rs1553863660 RCV000655482 CA355751231	600	G>D	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001982230 RCV002484647 rs767906723 VAR_035130	603	D>H	TP63-Related Spectrum Disorders ADULT syndrome [ClinVar]	Yes	ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs142981128 RCV002272528 RCV001923091 RCV002484467	605	R>Q	TP63-Related Spectrum Disorders ADULT syndrome [ClinVar]	Yes	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000006916 rs2108873431	609	E>missing	Rapp-Hodgkin ectodermal dysplasia syndrome [ClinVar]	Yes	ClinVar dbSNP
COSM106685 COSM3591236 RCV001270760 RCV002504980 rs142762485	609	E>K	Variant assessed as Somatic; MODERATE impact. skin Split hand-foot malformation 4 ADULT syndrome [NCI-TCGA, Cosmic, ClinVar]	Yes	NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA dbSNP gnomAD
rs1721303299 RCV001147715 RCV001147716 RCV001147714	612	S>A	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 TP63-Related Spectrum Disorders Orofacial cleft 8 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001877272 RCV002482573 rs1294809942	612	S>missing	TP63-Related Spectrum Disorders ADULT syndrome [ClinVar]	Yes	ClinVar dbSNP
rs113993964 RCV001324952 CA343282	616	L>missing	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar dbSNP
rs1721306735 RCV001324784 RCV002274186	621	S>missing	TP63-Related Spectrum Disorders Limb-mammary syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001147719 RCV002557162 rs372318389 RCV001147717 RCV001147718	626	V>G	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 TP63-Related Spectrum Disorders Orofacial cleft 8 Inborn genetic diseases [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001151065 RCV001151066 rs1293584292 RCV001147720	627	S>N	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 TP63-Related Spectrum Disorders Orofacial cleft 8 [ClinVar]	Yes	ClinVar dbSNP gnomAD
rs769956674 RCV001428608	629	G>S	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
rs2108873954 RCV001938886	630	S>P	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001966197 rs1445213116	631	S>N	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinVar dbSNP gnomAD
RCV000006927 rs2108874029	634	R>missing	Rapp-Hodgkin ectodermal dysplasia syndrome [ClinVar]	Yes	ClinVar dbSNP
rs770997588 RCV000704473	637	R>L	TP63-Related Spectrum Disorders [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV000760773 rs1560311554 RCV003159544	643	R>*	Variant assessed as Somatic; HIGH impact. Limb-mammary syndrome Limb-mammary syndrome (lms) [NCI-TCGA, ClinVar, Ensembl]	Yes	ClinVar Ensembl NCI-TCGA dbSNP
rs2108874267 COSM1327656 COSM3591243 VAR_088383	643	R>Q	ovary Variant assessed as Somatic; MODERATE impact. POF21; results in increased transcriptional activation in luciferase reporter assays; affects oligomerization [Cosmic, NCI-TCGA, UniProt]	Yes	NCI-TCGA Cosmic cosmic curated Ensembl UniProt
VAR_088382	643	R>del	LMS [UniProt]	Yes	UniProt
rs2108874342 VAR_088384	646	L>P	POF21; results in increased transcriptional activation in luciferase reporter assays; affects oligomerization [UniProt]	Yes	Ensembl UniProt
VAR_088385 rs1051829008	647	R>C	Variant assessed as Somatic; MODERATE impact. POF21; results in increased transcriptional activation in luciferase reporter assays; affects oligomerization; when expressed in mice, it results in accelerated oocyte loss via apoptosis [NCI-TCGA, UniProt]	Yes	NCI-TCGA TOPMed gnomAD UniProt
VAR_088386 COSM1230130 rs764601563	655	R>Q	large_intestine skin POF21; results in increased transcriptional activation in luciferase reporter assays [Cosmic, UniProt]	Yes	cosmic curated ExAC TOPMed gnomAD UniProt
RCV002046983 COSM1693958 rs2108874622	658	W>*	TP63-Related Spectrum Disorders skin [ClinVar, Cosmic]	Yes	cosmic curated ClinVar Ensembl dbSNP
rs2108874645 RCV000006917	659	N>missing	Rapp-Hodgkin ectodermal dysplasia syndrome [ClinVar]	Yes	ClinVar dbSNP
CA10618214 rs886058223 RCV000333254 RCV000268805 RCV000387704	665	M>R	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 TP63-Related Spectrum Disorders Orofacial cleft 8 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs758317410 RCV002507738 RCV001977796	668	R>H	TP63-Related Spectrum Disorders ADULT syndrome [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV002488602 rs34713855 RCV003331198 RCV001766033 COSM3591250 COSM3591251	674	R>H	Variant assessed as Somatic; MODERATE impact. ADULT syndrome [NCI-TCGA, ClinVar]	Yes	NCI-TCGA Cosmic ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
COSM3591120 COSM3591121	1	M>?	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
RCV001810511 rs1028553870	1	M>I		No	ClinVar dbSNP
rs1577143853	3	F>I		No	Ensembl
COSM6054402 COSM6054403	3	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1288895794	4	E>G		No	TOPMed gnomAD
rs1729454377	4	E>K		No	TOPMed
COSM6097353 COSM6097352	5	T>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs568702479	7	R>Q		No	1000Genomes ExAC TOPMed gnomAD
rs376627647	7	R>W		No	ESP ExAC TOPMed gnomAD
rs775109935	8	C>F		No	ExAC TOPMed gnomAD
rs1729455233	8	C>R		No	gnomAD
rs775109935	8	C>S		No	ExAC TOPMed gnomAD
rs775109935	8	C>Y		No	ExAC TOPMed gnomAD
rs1255910627	9	A>G		No	gnomAD
rs1729456135	10	T>N		No	Ensembl
rs1336582105	12	Q>*		No	TOPMed
rs1202549612	12	Q>R		No	TOPMed gnomAD
rs1729457321	16	D>G		No	TOPMed
COSM1308939	16	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1282548929	16	D>Y		No	gnomAD
rs200000559	17	P>A		No	1000Genomes ExAC gnomAD
rs200000559	17	P>S		No	1000Genomes ExAC gnomAD
rs2108600992	18	Y>D		No	Ensembl
rs1729458021	18	Y>F		No	Ensembl
rs1189434292	19	I>L		No	gnomAD
rs1729458422	19	I>N		No	TOPMed gnomAD
rs144315591 COSM5963797 COSM5963798	23	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
rs144315591	23	V>L		No	ESP ExAC TOPMed gnomAD
rs1162429216	28	H>R		No	TOPMed gnomAD
rs533808847	29	F>V		No	ExAC gnomAD
rs1350312255	31	W>S		No	gnomAD
rs752713164	33	E>A		No	ExAC TOPMed gnomAD
rs752713164	33	E>G		No	ExAC TOPMed gnomAD
COSM3591125 COSM3591124	33	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	34	S>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs756188491	34	S>R		No	ExAC gnomAD
rs1221897978	36	Y>F		No	gnomAD
rs754361670	37	R>L		No	ExAC TOPMed gnomAD
rs1720704235	40	M>I		No	TOPMed
rs779859382	40	M>T		No	ExAC TOPMed gnomAD
rs757932730	40	M>V		No	ExAC gnomAD
rs1042354976	41	S>F		No	Ensembl
rs746479227	44	T>I		No	ExAC gnomAD
rs1438370585	45	Q>E		No	TOPMed
rs1720704993	45	Q>R		No	Ensembl
rs1413841706	46	T>A		No	gnomAD
rs1245371733	48	E>D		No	TOPMed gnomAD
rs1163601484	50	L>F		No	gnomAD
rs1720706641	51	S>N		No	TOPMed gnomAD
rs1018814684	52	P>L		No	TOPMed
rs924896139	53	E>D		No	Ensembl
COSM6164334 COSM6164335	53	E>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1229191758	54	V>A		No	TOPMed
rs1720707547	55	F>L		No	Ensembl
rs748003468	56	Q>K		No	ExAC gnomAD
rs1370488031	57	H>L		No	gnomAD
rs574565024	57	H>N		No	1000Genomes ExAC gnomAD
rs1370488031	57	H>R		No	gnomAD
rs574565024	57	H>Y		No	1000Genomes ExAC gnomAD
COSM1308941	58	I>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs151051217	59	W>*		No	1000Genomes
RCV002223708 rs2108795623	59	W>S		No	ClinVar Ensembl dbSNP
rs772867228 COSM3591131 COSM3591130	60	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs1720709001	63	E>K		No	gnomAD
rs1720709215	64	Q>E		No	gnomAD
rs769559531	64	Q>H		No	ExAC gnomAD
TCGA novel	65	P>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs777769671	65	P>L		No	ExAC gnomAD
rs142452541	66	I>M		No	1000Genomes ESP ExAC TOPMed gnomAD
rs748992625	66	I>V		No	ExAC gnomAD
rs1720767795	67	C>R		No	gnomAD
rs1330936376	69	V>F		No	TOPMed gnomAD
rs1380696676	69	V>G		No	gnomAD
rs1330936376	69	V>L		No	TOPMed gnomAD
rs2108796771	70	Q>E		No	Ensembl
rs1229142388	71	P>S		No	gnomAD
rs1720769046	72	I>V		No	TOPMed
COSM3591133 COSM3591132	73	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1276675867	75	N>D		No	gnomAD
rs1256326731	78	D>E		No	gnomAD
rs2108796790	78	D>H		No	Ensembl
rs768926448	78	D>V		No	ExAC gnomAD
rs1484040098	79	E>K		No	gnomAD
rs1720770076	81	S>P		No	TOPMed
rs776520164	82	E>G		No	ExAC TOPMed gnomAD
rs1348298476	82	E>Q		No	gnomAD
rs761960474	83	D>V		No	ExAC TOPMed gnomAD
RCV000998189 rs750962649	85	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
TCGA novel	86	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs766820575	86	T>R		No	ExAC
rs1433073879	87	N>K		No	gnomAD
rs71308973	87	N>T		No	Ensembl
rs1720771813	90	E>V		No	TOPMed gnomAD
COSM4116013 COSM4116012	92	S>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1317891458	92	S>N		No	Ensembl
COSM1288583	92	S>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2108796850	93	M>L		No	Ensembl
rs1177278893	94	D>A		No	gnomAD
rs1177278893	94	D>V		No	gnomAD
rs752035368	95	C>Y		No	ExAC TOPMed gnomAD
rs372543100	96	I>F		No	ESP ExAC TOPMed gnomAD
rs121908848	97	R>S		No	TOPMed gnomAD
rs1427851401	99	Q>L		No	TOPMed gnomAD
COSM3591135 rs1173748831 COSM3591134	100	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed
rs755677647 COSM209234	101	S>L	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs2108796888	102	D>E		No	Ensembl
rs1218521246	103	L>P		No	gnomAD
rs1720774885	106	P>L		No	Ensembl
rs1720774707	106	P>S		No	gnomAD
COSM73048	107	M>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs778668978	107	M>R		No	ExAC gnomAD
rs778668978	107	M>T		No	ExAC gnomAD
rs757222487 COSM1421607	107	M>V	large_intestine [Cosmic]	No	cosmic curated ExAC gnomAD
rs745679197	108	W>S		No	ExAC TOPMed gnomAD
rs1727137586	109	P>A		No	TOPMed gnomAD
rs2108636977	109	P>L		No	Ensembl
rs2108636977	109	P>Q		No	Ensembl
rs1727137586	109	P>S		No	TOPMed gnomAD
rs1727137586	109	P>T		No	TOPMed gnomAD
rs751370344	110	Q>H		No	ExAC TOPMed gnomAD
rs779896859	110	Q>R		No	ExAC gnomAD
rs2108637024	111	Y>*		No	Ensembl
rs2108637013	111	Y>D		No	Ensembl
rs2108637013	111	Y>H		No	Ensembl
rs2108637013	111	Y>N		No	Ensembl
rs1727138717	112	T>K		No	TOPMed gnomAD
rs1727138717 COSM1651371 COSM1042484	112	T>M	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated TOPMed gnomAD
rs2108637051	113	N>D		No	Ensembl
rs774678406	113	N>K		No	gnomAD
rs756300145	114	L>M		No	ExAC gnomAD
COSM3723952 COSM3723950 rs756300145 COSM3723951	114	L>V	upper_aerodigestive_tract [Cosmic]	No	cosmic curated ExAC gnomAD
rs1727140613	115	G>E		No	TOPMed
rs1727140287	115	G>R		No	TOPMed
rs1727140613	115	G>V		No	TOPMed
rs1727140287	115	G>W		No	TOPMed
rs2108637106	116	L>F		No	Ensembl
rs2108637115	116	L>H		No	Ensembl
rs2108637115	116	L>R		No	Ensembl
rs2108637106	116	L>V		No	Ensembl
rs2108637129	117	L>M		No	Ensembl
rs2108637137	117	L>P		No	Ensembl
rs2108637137	117	L>Q		No	Ensembl
rs2108637168	118	N>K		No	Ensembl
rs2108637162	118	N>Y		No	Ensembl
rs2108637178	119	S>C		No	Ensembl
rs2108637182	119	S>N		No	Ensembl
rs2108637187	119	S>R		No	Ensembl
rs2108637182	119	S>T		No	Ensembl
rs2108637194	120	M>I		No	Ensembl
rs749340539	121	D>E		No	ExAC TOPMed gnomAD
rs111466227	121	D>H		No	ExAC gnomAD
rs111466227	121	D>N		No	ExAC gnomAD
rs2108637211	122	Q>*		No	Ensembl
TCGA novel rs201774402	122	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC TOPMed gnomAD NCI-TCGA
rs2108637211	122	Q>K		No	Ensembl
rs1464124009	122	Q>L		No	gnomAD
rs1464124009	122	Q>R		No	gnomAD
rs2108637240	123	Q>*		No	Ensembl
rs1727143052	123	Q>H		No	Ensembl
rs2108637240	123	Q>K		No	Ensembl
rs2108637245	123	Q>L		No	Ensembl
rs1553845417	124	I>N		No	Ensembl
rs1553845417	124	I>S		No	Ensembl
rs779179533	125	Q>H		No	ExAC gnomAD
rs982556895	125	Q>L		No	TOPMed gnomAD
rs982556895	125	Q>R		No	TOPMed gnomAD
rs2108637292	126	N>I		No	Ensembl
rs547314129	126	N>K		No	1000Genomes ExAC TOPMed gnomAD
rs2108637288	126	N>Y		No	Ensembl
rs2108637314	127	G>A		No	Ensembl
rs375508394	127	G>C		No	ESP ExAC TOPMed gnomAD
rs2108637314	127	G>D		No	Ensembl
rs375508394	127	G>R		No	ESP ExAC TOPMed gnomAD
COSM5175804 rs375508394 COSM1421610 COSM5175805	127	G>S	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs2108637314	127	G>V		No	Ensembl
rs2108637329 RCV001797481	128	S>F		No	ClinVar Ensembl dbSNP
rs2108637321	128	S>P		No	Ensembl
rs2108637321	128	S>T		No	Ensembl
rs193287780 VAR_035126 COSM3591143 COSM3591141 COSM3591142	129	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic UniProt 1000Genomes ExAC NCI-TCGA dbSNP gnomAD
rs1577003355	129	S>P		No	Ensembl
rs1577003355	129	S>T		No	Ensembl
rs2108637364	130	S>A		No	Ensembl
rs1278311377	130	S>C		No	gnomAD
TCGA novel	130	S>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2108637364	130	S>T		No	Ensembl
rs1278311377	130	S>Y		No	gnomAD
rs2108637391	131	T>I		No	Ensembl
rs2108637385	131	T>P		No	Ensembl
rs2108637385 COSM4149742 COSM4149743 COSM4149744	131	T>S	ovary [Cosmic]	No	cosmic curated Ensembl
rs1577003438	132	S>C		No	Ensembl
RCV000998190 rs1577003438	132	S>G		No	ClinVar Ensembl dbSNP
rs989652391	132	S>N		No	gnomAD
rs2108637416	132	S>R		No	Ensembl
rs989652391	132	S>T		No	gnomAD
rs776290495	133	P>A		No	ExAC TOPMed gnomAD
COSM3591151 COSM3591152 rs2108637432 COSM3591150	133	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs776290495 COSM139501	133	P>S	skin [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs1381645678	134	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs2108637451	134	Y>H		No	Ensembl
rs2108637451	134	Y>N		No	Ensembl
rs1381645678	134	Y>S		No	TOPMed gnomAD
rs2108637489	135	N>I		No	Ensembl
rs2108637496	135	N>K		No	Ensembl
rs2108637478	135	N>Y		No	Ensembl
rs2108637501	136	T>A		No	Ensembl
rs2108637511	136	T>I		No	Ensembl
COSM3591153 rs762935508 COSM3591155 COSM3591154	137	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC gnomAD
rs2108637536	137	D>V		No	Ensembl
rs762935508	137	D>Y		No	ExAC gnomAD
rs2108637561	138	H>P		No	Ensembl
rs766239462	138	H>Q		No	ExAC gnomAD
rs2108637554	138	H>Y		No	Ensembl
rs1727151987	139	A>P		No	TOPMed
COSM4116014 COSM3333055 rs1727151987 COSM209235	139	A>T	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated TOPMed
COSM4922739 COSM4922738 COSM4922740 rs751300168	139	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs2108637606	140	Q>E		No	Ensembl
rs757588913	140	Q>H		No	ExAC TOPMed gnomAD
rs778091982	140	Q>L		No	ExAC TOPMed gnomAD
rs778091982	140	Q>P		No	ExAC TOPMed gnomAD
rs778091982	140	Q>R		No	ExAC TOPMed gnomAD
rs1727154175	141	N>H		No	TOPMed
rs2108637646	141	N>I		No	Ensembl
rs2108637655	141	N>K		No	Ensembl
rs2108637646	141	N>T		No	Ensembl
rs1727154175	141	N>Y		No	TOPMed
rs779128548	142	S>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA
rs779128548	142	S>G		No	ExAC
rs2108637676	142	S>N		No	Ensembl
rs1328739177	142	S>R		No	gnomAD
rs2108637676	142	S>T		No	Ensembl
rs1169665681	143	V>A		No	TOPMed
rs1169665681	143	V>D		No	TOPMed
rs1169665681	143	V>G		No	TOPMed
rs2108637691	143	V>I		No	Ensembl
rs2108637691	143	V>L		No	Ensembl
COSM1593516 rs1274675449 COSM1042485	144	T>M	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs1274675449	144	T>R		No	gnomAD
rs2108637715	144	T>S		No	Ensembl
rs1225645471	145	A>E		No	TOPMed gnomAD
rs1225645471	145	A>G		No	TOPMed gnomAD
rs2108637738	145	A>P		No	Ensembl
TCGA novel	145	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1225645471 COSM5079911 COSM1566512 COSM5079910	145	A>V	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs2108637764	146	P>A		No	Ensembl
rs2108637774	146	P>H		No	Ensembl
rs2108637774	146	P>L		No	Ensembl
rs2108637774	146	P>R		No	Ensembl
rs2108637764	146	P>S		No	Ensembl
rs747354750	147	S>L		No	ExAC TOPMed gnomAD
rs2108637798	147	S>P		No	Ensembl
rs2108637798	147	S>T		No	Ensembl
TCGA novel rs2108637816	148	P>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs2108637816	148	P>S		No	Ensembl
rs2108637816	148	P>T		No	Ensembl
rs772653802	149	Y>*		No	ExAC gnomAD
rs2108637842	149	Y>C		No	Ensembl
rs2108637842	149	Y>F		No	Ensembl
rs2108637842	149	Y>S		No	Ensembl
rs762371837	150	A>P		No	ExAC
rs762371837	150	A>S		No	ExAC
rs2108637891	151	Q>*		No	Ensembl
rs2108637891	151	Q>E		No	Ensembl
rs2108637903	151	Q>L		No	Ensembl
rs766297918	152	P>A		No	ExAC gnomAD
rs2108637911 COSM6164333 COSM1537466 COSM6164332 COSM6164331	152	P>H	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated NCI-TCGA Cosmic Ensembl
rs766297918	152	P>S		No	ExAC gnomAD
rs2108637926	153	S>C		No	Ensembl
rs2108637933	153	S>N		No	Ensembl
rs2108637933	153	S>T		No	Ensembl
rs2108637961	155	T>P		No	Ensembl
rs2108637961	155	T>S		No	Ensembl
rs759567158	156	F>L		No	ExAC TOPMed gnomAD
rs2108637991	157	D>E		No	Ensembl
rs1727161919	157	D>H		No	Ensembl
COSM3380484 COSM3380483 rs1727161919 COSM3380485	157	D>N	pancreas [Cosmic]	No	cosmic curated Ensembl
COSM1042488 COSM1593513	157	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs767384779	158	A>D		No	ExAC gnomAD
rs2108638029	159	L>H		No	Ensembl
rs752603187	159	L>V		No	ExAC TOPMed gnomAD
COSM5243770 COSM5243768 COSM5243769	160	S>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1320669467	161	P>A		No	gnomAD
rs1316823566	161	P>L		No	gnomAD
rs1316823566	161	P>Q		No	gnomAD
rs1320669467	161	P>S		No	gnomAD
rs1320669467	161	P>T		No	gnomAD
rs2108638082 COSM3333061 COSM3357686 COSM3333060	162	S>L	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated Ensembl
rs1385659222	162	S>P		No	gnomAD
rs2108638127	163	P>H		No	Ensembl
rs2108638127 COSM3591158 COSM3591157 COSM3591156	163	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs2108638127	163	P>R		No	Ensembl
rs1560204733	163	P>T		No	Ensembl
rs2108638154	164	A>D		No	Ensembl
rs2108638154	164	A>G		No	Ensembl
rs765564666	164	A>P		No	ExAC TOPMed gnomAD
rs765564666	164	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs2108638154	164	A>V		No	Ensembl
TCGA novel	165	I>N	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs2108638175	165	I>T		No	Ensembl
rs1560204773	166	P>R		No	Ensembl
rs267599729	166	P>S		No	Ensembl
rs1553845515	167	S>C		No	Ensembl
rs1553845515	167	S>Y		No	Ensembl
rs1228592371	168	N>D		No	TOPMed gnomAD
rs1228592371	168	N>H		No	TOPMed gnomAD
rs141278696	168	N>K		No	ESP TOPMed gnomAD
rs2108638247	168	N>T		No	Ensembl
rs2108638277	169	T>N		No	Ensembl
rs2108638260	169	T>P		No	Ensembl
rs2108638277	169	T>S		No	Ensembl
rs2108638260	169	T>S		No	Ensembl
rs2108638308	170	D>A		No	Ensembl
rs2108638320 COSM48819	170	D>E	lung [Cosmic]	No	cosmic curated Ensembl
rs1727170430	170	D>H		No	Ensembl
COSM3591159 rs1727170430 COSM3591160 COSM3591161	170	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs2108638308 COSM1753090 COSM1753089 COSM4005321	170	D>V	urinary_tract [Cosmic]	No	cosmic curated Ensembl
rs2108638329	172	P>A		No	Ensembl
rs1442892292	172	P>R		No	gnomAD
rs2108638329	172	P>T		No	Ensembl
rs113993965	173	G>A		No	Ensembl
rs113993965	173	G>D		No	Ensembl
rs113993965 RCV000494181 CA355750729	173	G>V		No	ClinGen ClinVar Ensembl dbSNP
COSM5159088 RCV002263339 COSM5159087 rs201188464 COSM1421613	174	P>L	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD
COSM402413 rs201188464	174	P>Q	lung [Cosmic]	No	cosmic curated TOPMed gnomAD
rs201188464	174	P>R		No	TOPMed gnomAD
rs2108638384	174	P>S		No	Ensembl
rs2108638413	175	H>D		No	Ensembl
rs2108638421	175	H>L		No	Ensembl
rs2108638413	175	H>N		No	Ensembl
rs2108638421	175	H>P		No	Ensembl
rs1354325868	175	H>Q		No	gnomAD
rs2108638421	175	H>R		No	Ensembl
rs2108638442	176	S>N		No	Ensembl
rs2108638442	176	S>T		No	Ensembl
rs1727174330	177	F>L		No	TOPMed
rs747443275	177	F>L		No	ExAC TOPMed gnomAD
rs747443275	177	F>V		No	ExAC TOPMed gnomAD
rs2108638486	178	D>A		No	Ensembl
rs2108638494	178	D>E		No	Ensembl
rs2108638486	178	D>G		No	Ensembl
rs1266601767	178	D>H		No	gnomAD
COSM4991903 rs1266601767 COSM1693946 COSM1693945	178	D>N	Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated gnomAD
rs2108638486	178	D>V		No	Ensembl
rs1266601767	178	D>Y		No	gnomAD
rs2108638506	179	V>E		No	Ensembl
rs2108638499	179	V>L		No	Ensembl
rs2108638499	179	V>M		No	Ensembl
rs1356247748	180	S>C		No	TOPMed gnomAD
rs1490473342	181	F>L		No	gnomAD
RCV000422835 CA16604497 rs1057520750	183	Q>*		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel	183	Q>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
VAR_020866 COSM121050	184	S>L	Variant assessed as Somatic; MODERATE impact. head/neck cancer [NCI-TCGA, UniProt]	No	NCI-TCGA Cosmic UniProt
COSM1647621 COSM729995	184	S>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1489129378	186	T>I		No	gnomAD
VAR_020867	187	A>P	lung carcinoma; somatic mutation [UniProt]	No	UniProt
TCGA novel	188	K>missing	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM4843062 COSM4843064 COSM4843063	188	K>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM1421614 COSM5173851 COSM5173852	190	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3333069 COSM3591166 COSM3333068 rs1159440697	193	T>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA
rs1727180191	193	T>M		No	TOPMed gnomAD
COSM3408506 COSM3408505 COSM3408507	194	Y>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs746943082	196	T>A		No	ExAC gnomAD
rs568772953	196	T>N		No	1000Genomes ExAC TOPMed gnomAD
rs568772953	196	T>S		No	1000Genomes ExAC TOPMed gnomAD
TCGA novel	197	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1717411456	199	K>R		No	Ensembl
RCV000414612 CA16042432 rs1057517984	202	Y>C		No	ClinGen ClinVar Ensembl dbSNP
rs1717412985	203	C>G		No	TOPMed gnomAD
VAR_020868	204	Q>L	cervical cancer [UniProt]	No	UniProt
rs1237045113	211	I>T		No	gnomAD
rs1717414056	211	I>V		No	gnomAD
TCGA novel rs1717415466	212	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
rs558865264	212	Q>K		No	Ensembl
rs1717415770	213	I>V		No	Ensembl
rs759801493	216	M>L		No	ExAC gnomAD
rs1297214489	216	M>R		No	TOPMed
rs759801493	216	M>V		No	ExAC gnomAD
COSM4851127 COSM4851129 COSM4851128	219	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs754080925	220	P>A		No	ExAC TOPMed gnomAD
rs754080925	220	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
COSM3591174 COSM3591176 COSM3591175	222	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1717418819	223	A>T		No	Ensembl
rs757669482	224	V>I		No	ExAC TOPMed gnomAD
rs374833411	225	I>T		No	ESP ExAC TOPMed gnomAD
rs1717420514	226	R>C		No	TOPMed
COSM3408510 rs1717421668 COSM3408512 COSM3408511	227	A>T	Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs1363677860	228	M>T		No	gnomAD
rs1717422194	228	M>V		No	Ensembl
rs201466089	230	V>I		No	ExAC TOPMed gnomAD
rs199727371	233	K>N		No	1000Genomes ESP ExAC TOPMed gnomAD
CA355753628 rs1553856533 RCV000512665	233	K>T		No	ClinGen ClinVar Ensembl dbSNP
rs377757904	238	T>M		No	ESP gnomAD
rs1717428463	240	V>A		No	Ensembl
rs201617537	242	K>R		No	1000Genomes
TCGA novel	244	C>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1198643405 COSM209239	251	R>H	large_intestine [Cosmic]	No	cosmic curated gnomAD
TCGA novel	253	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1717766629	258	I>V		No	TOPMed
rs868795211	259	A>D		No	Ensembl
TCGA novel	259	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs868795211	259	A>V		No	Ensembl
rs1158573382	261	P>S		No	TOPMed gnomAD
rs904037771	262	S>I		No	TOPMed gnomAD
rs904037771	262	S>N		No	TOPMed gnomAD
rs904037771	262	S>T		No	TOPMed gnomAD
rs1318766368	263	H>P		No	gnomAD
rs866404340	263	H>Y		No	Ensembl
rs768752805	267	V>L		No	ExAC gnomAD
COSM1421616 COSM3915556 rs1717770800 COSM3915555	269	G>E	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated TOPMed
rs79939938	270	N>S		No	ExAC gnomAD
rs79939938	270	N>T		No	ExAC gnomAD
rs1218025384	273	A>S		No	TOPMed gnomAD
rs1717772980	275	Y>F		No	Ensembl
rs1717773724	276	V>L		No	TOPMed
TCGA novel	277	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1717774421	277	E>G		No	TOPMed
VAR_020872	279	P>H	colon cancer [UniProt]	No	UniProt
rs190865056	280	I>N		No	1000Genomes ExAC TOPMed gnomAD
rs756839728	281	T>A		No	gnomAD
rs751232018	284	Q>E		No	ExAC gnomAD
CA658683373 RCV000584992 rs1553857303	285	S>missing		No	ClinGen ClinVar dbSNP
rs1490449010	286	V>M		No	gnomAD
rs1341337563	288	V>I		No	TOPMed
rs757045273	289	P>S		No	TOPMed gnomAD
rs1394325408	290	Y>C		No	TOPMed
rs777691114	291	E>D		No	ExAC gnomAD
rs749041260	292	P>A		No	ExAC TOPMed gnomAD
rs749041260	292	P>S		No	ExAC TOPMed gnomAD
rs749041260	292	P>T		No	ExAC TOPMed gnomAD
rs1303882523	293	P>T		No	TOPMed gnomAD
rs866910795	295	V>A		No	Ensembl
rs886058222	300	T>M		No	gnomAD
TCGA novel	300	T>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1717924722	307	M>K		No	Ensembl
CA16604844 RCV000435995 rs1057520664	312	C>Y		No	ClinGen ClinVar Ensembl dbSNP
rs759823000	313	V>F		No	ExAC TOPMed gnomAD
rs759823000	313	V>I		No	ExAC TOPMed gnomAD
COSM3783689 COSM3783690 COSM3783688	314	G>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1057518137 RCV000414331 CA16042467	315	G>missing		No	ClinGen ClinVar dbSNP
rs1717927918	317	N>K		No	TOPMed gnomAD
rs1553857681	324	I>L		No	Ensembl
rs1320920860	325	V>A		No	TOPMed gnomAD
rs1320920860	325	V>D		No	TOPMed gnomAD
rs1202504460	326	T>I		No	gnomAD
rs763591139	327	L>V		No	ExAC TOPMed gnomAD
COSM3591185 COSM3591184 COSM3591186	328	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs753404887	331	D>V		No	ExAC
rs2108806129	332	G>A		No	Ensembl
rs1040062725	332	G>R		No	Ensembl
rs2108806129	332	G>V		No	Ensembl
rs2108806149	333	Q>*		No	Ensembl
rs2108806149	333	Q>E		No	Ensembl
rs2108806149	333	Q>K		No	Ensembl
rs2108806166	334	V>D		No	Ensembl
rs2108806204	336	G>A		No	Ensembl
rs867300924	336	G>S		No	Ensembl
rs113993966	337	R>*		No	Ensembl
COSM1042491 COSM1651369	337	R>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs113993967	337	R>P		No	TOPMed
rs1404019220	338	R>G		No	TOPMed gnomAD
COSM1042492 COSM1651368 RCV000497878 rs1029852196 CA89746661	338	R>H	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA TOPMed dbSNP
rs1029852196	338	R>P		No	TOPMed
rs1718019978	339	C>Y		No	TOPMed
TCGA novel	340	F>L	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs756342630	340	F>L		No	ExAC gnomAD
rs2108806288	341	E>Q		No	Ensembl
rs2108806316	342	A>G		No	Ensembl
rs2108806302	342	A>P		No	Ensembl
rs2108806316	342	A>V		No	Ensembl
COSM4420568 COSM4420569 COSM4420567 rs121908841	343	R>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs121908841	343	R>P		No	Ensembl
TCGA novel	344	I>G	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs764411597	344	I>M		No	ExAC TOPMed gnomAD
rs2108806380	345	C>*		No	Ensembl
rs2108806372	345	C>S		No	Ensembl
rs2108806380	345	C>W		No	Ensembl
rs753928918	346	A>S		No	1000Genomes ExAC gnomAD
rs753928918	346	A>T		No	1000Genomes ExAC gnomAD
rs797044484	346	A>V		No	Ensembl
rs2108806416	347	C>*		No	Ensembl
RCV000481657 rs1064793282 CA16617858	347	C>F		No	ClinGen ClinVar Ensembl dbSNP
rs2108806416	347	C>W		No	Ensembl
rs1064793282	347	C>Y		No	Ensembl
rs1560280393	348	P>Q		No	Ensembl
rs1560280393	348	P>R		No	Ensembl
rs2108806456	349	G>*		No	Ensembl
rs866267914 COSM4821036 COSM4821037 COSM4821038	349	G>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs866267914 COSM4394286 COSM4394287 COSM4394285	349	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl NCI-TCGA
rs2108806456	349	G>R		No	Ensembl
rs1057517985	350	R>*		No	Ensembl
rs1057517985 RCV000413411 CA16042468	350	R>G		No	ClinGen ClinVar Ensembl dbSNP
rs2108806481	350	R>K		No	Ensembl
rs2108806481	350	R>T		No	Ensembl
rs2108806506	351	D>E		No	Ensembl
rs121908844	351	D>V		No	Ensembl
rs779097193	352	R>K		No	ExAC gnomAD
rs2108806534	352	R>S		No	Ensembl
rs779097193	352	R>T		No	ExAC gnomAD
rs121908847	352	R>W		No	Ensembl
rs2108806550	353	K>*		No	Ensembl
rs2108806559	353	K>M		No	Ensembl
rs2108806566	353	K>N		No	Ensembl
rs1718026198	354	A>G		No	Ensembl
rs2108806574	354	A>P		No	Ensembl
rs2108806574	354	A>S		No	Ensembl
rs2108806574	354	A>T		No	Ensembl
COSM1670774 COSM1670775	354	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2108806623	355	D>E		No	Ensembl
rs1577147986	355	D>G		No	Ensembl
rs1553857889	355	D>H		No	Ensembl
rs1577147986	355	D>V		No	Ensembl
rs1553857889	355	D>Y		No	Ensembl
rs2108806654	356	E>D		No	Ensembl
rs2108806640	356	E>G		No	Ensembl
rs2108806635	356	E>K		No	Ensembl
rs2108806635	356	E>Q		No	Ensembl
rs2108806640	356	E>V		No	Ensembl
rs2108806684	357	D>E		No	Ensembl
rs2108806664	357	D>H		No	Ensembl
rs2108806664	357	D>N		No	Ensembl
rs2108806674	357	D>V		No	Ensembl
rs1290112962	358	S>C		No	gnomAD
rs1290112962	358	S>G		No	gnomAD
rs1490291897	358	S>N		No	gnomAD
rs1223598729	358	S>R		No	gnomAD
rs1490291897	358	S>T		No	gnomAD
rs2108806713	359	I>F		No	Ensembl
rs2108806736	359	I>M		No	Ensembl
rs2108806724	359	I>N		No	Ensembl
rs2108806724	359	I>S		No	Ensembl
rs2108806724	359	I>T		No	Ensembl
rs2108806755	360	R>G		No	Ensembl
rs2108806760	360	R>I		No	Ensembl
rs2108806760	360	R>K		No	Ensembl
rs2108806760	360	R>T		No	Ensembl
rs2108806776	361	K>*		No	Ensembl
rs2108806787	361	K>M		No	Ensembl
rs148937466	361	K>N		No	ESP ExAC TOPMed gnomAD
rs2108806802	362	Q>*		No	Ensembl
rs2108806802	362	Q>E		No	Ensembl
rs780226587	362	Q>H		No	ExAC gnomAD
rs2108806812	362	Q>L		No	Ensembl
rs753643740	363	Q>*		No	ExAC gnomAD
rs753643740	363	Q>E		No	ExAC gnomAD
rs2108806836	363	Q>H		No	Ensembl
rs753643740	363	Q>K		No	ExAC gnomAD
rs969409876	364	V>D		No	gnomAD
rs969409876	364	V>G		No	gnomAD
COSM1194194 rs2108806846	364	V>I	lung [Cosmic]	No	cosmic curated Ensembl
rs2108806846	364	V>L		No	Ensembl
rs147148566 COSM3591190 COSM1645855 COSM109625	365	S>L	kidney Variant assessed as Somatic; MODERATE impact. skin [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs147148566	365	S>W		No	TOPMed gnomAD
rs2108806907	366	D>E		No	Ensembl
rs2108806901	366	D>G		No	Ensembl
rs2108806882	366	D>H		No	Ensembl
rs2108806882	366	D>N		No	Ensembl
rs2108806882	366	D>Y		No	Ensembl
rs1718030939	367	S>G		No	TOPMed
rs1160371550	367	S>N		No	gnomAD
rs2108806935	367	S>R		No	Ensembl
rs1160371550	367	S>T		No	gnomAD
rs201706554	368	T>A		No	1000Genomes ExAC TOPMed gnomAD
rs1718032321	368	T>R		No	TOPMed
rs201706554	368	T>S		No	1000Genomes ExAC TOPMed gnomAD
rs2108806989 COSM479841 COSM1617306 COSM3660411	369	K>N	kidney liver Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs772847941	369	K>R		No	ExAC TOPMed gnomAD
rs2108806997	370	N>H		No	Ensembl
rs762783899	370	N>I		No	ExAC TOPMed gnomAD
rs375593834	370	N>K		No	ESP ExAC gnomAD
rs762783899	370	N>S		No	ExAC TOPMed gnomAD
rs762783899	370	N>T		No	ExAC TOPMed gnomAD
rs2108806997	370	N>Y		No	Ensembl
rs2108807040	371	G>A		No	Ensembl
rs556383197	371	G>C		No	1000Genomes ExAC TOPMed gnomAD
rs2108807040	371	G>D		No	Ensembl
rs556383197	371	G>R		No	1000Genomes ExAC TOPMed gnomAD
rs1373411329	372	D>H		No	gnomAD
rs1373411329	372	D>N		No	gnomAD
rs2108807068	373	G>A		No	Ensembl
rs2108807068	373	G>D		No	Ensembl
rs199807776	374	T>K		No	ExAC TOPMed gnomAD
rs2108807086	374	T>P		No	Ensembl
rs199807776	374	T>R		No	ExAC TOPMed gnomAD
rs2108807086	374	T>S		No	Ensembl
rs2108807120	375	K>*		No	Ensembl
rs2108807128	375	K>M		No	Ensembl
rs1718035733	375	K>N		No	TOPMed
rs2108807128	375	K>R		No	Ensembl
COSM1593510 COSM1042494	376	R>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM5974694 rs757536818 COSM5974692 COSM5974693	376	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA gnomAD
rs757536818	376	R>G		No	1000Genomes ExAC gnomAD
rs143591434	376	R>P		No	ESP ExAC TOPMed gnomAD
rs757536818	376	R>S		No	1000Genomes ExAC gnomAD
rs775491637 COSM3767356 COSM3767357 COSM3767358	377	P>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA
rs576449010	377	P>A		No	1000Genomes ExAC TOPMed gnomAD
rs148052765	377	P>Q		No	ESP ExAC TOPMed gnomAD
rs148052765	377	P>R		No	ESP ExAC TOPMed gnomAD
rs576449010	377	P>T		No	1000Genomes ExAC TOPMed gnomAD
rs2108809109	378	F>C		No	Ensembl
COSM228053 COSM1693951 rs761885185 COSM3591194	379	R>C	Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs761885185	379	R>G		No	ExAC gnomAD
COSM1291678 rs765502786	379	R>H	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs765502786	379	R>P		No	ExAC TOPMed gnomAD
rs761885185	379	R>S		No	ExAC gnomAD
TCGA novel	379	R>V	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs2108809150	380	Q>*		No	Ensembl
rs2108809150	380	Q>E		No	Ensembl
rs2108809168	380	Q>H		No	Ensembl
rs2108809158	380	Q>L		No	Ensembl
rs2108809158	380	Q>R		No	Ensembl
rs750431012	381	N>I		No	ExAC gnomAD
rs750431012	381	N>S		No	ExAC gnomAD
rs1489182283	382	T>A		No	gnomAD
rs2108809209	382	T>I		No	Ensembl
rs2108809227	383	H>D		No	Ensembl
rs763116801	383	H>L		No	ExAC TOPMed gnomAD
rs763116801	383	H>P		No	ExAC TOPMed gnomAD
rs763116801	383	H>R		No	ExAC TOPMed gnomAD
rs2108809227	383	H>Y		No	Ensembl
rs2108809266	384	G>A		No	Ensembl
rs2108809266	384	G>D		No	Ensembl
rs2108809254	384	G>R		No	Ensembl
rs2108809254	384	G>S		No	Ensembl
rs2108809266	384	G>V		No	Ensembl
rs2108809287	385	I>F		No	Ensembl
rs908423718	385	I>M		No	Ensembl
rs2108809310	386	Q>*		No	Ensembl
rs2108809322	386	Q>H		No	Ensembl
rs2108809316	386	Q>L		No	Ensembl
COSM3591196 rs140374868 COSM3591195 COSM107406	387	M>I	Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic]	No	cosmic curated gnomAD NCI-TCGA Cosmic NCI-TCGA
rs2108809339	387	M>K		No	Ensembl
rs2108809339	387	M>T		No	Ensembl
rs1718126299	387	M>V		No	Ensembl
rs1718127081	388	T>A		No	Ensembl
COSM729994 rs2108809370 COSM1647620	388	T>I	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs2108809370	388	T>R		No	Ensembl
rs1718127081	388	T>S		No	Ensembl
rs1560281511	389	S>C		No	TOPMed
COSM3591197 rs1560281511 COSM3591198 COSM3591199	389	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed
rs1338541237	389	S>T		No	TOPMed
rs1560281511	389	S>Y		No	TOPMed
rs2108809424	390	I>F		No	Ensembl
rs572233938	390	I>M		No	1000Genomes ExAC TOPMed gnomAD
rs1718128235	390	I>T		No	Ensembl
rs2108809424	390	I>V		No	Ensembl
COSM1593509 COSM1042495 rs866574006	391	K>N	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs2108809459	391	K>R		No	Ensembl
rs2108809471	392	K>*		No	Ensembl
rs1426203269	392	K>N		No	Ensembl
rs2108809477	392	K>R		No	Ensembl
COSM3408513 COSM3408514 rs941268998 RCV000422385 CA16604846 COSM3408515	393	R>*	Variant assessed as Somatic; HIGH impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA TOPMed dbSNP
rs941268998	393	R>G		No	TOPMed
rs1173679499	393	R>P		No	TOPMed gnomAD
COSM3591202 COSM3591201 COSM3591200 rs1173679499	393	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs2108809515	394	R>*		No	Ensembl
rs2108809515	394	R>G		No	Ensembl
rs2108809527	394	R>I		No	Ensembl
rs2108809527	394	R>K		No	Ensembl
rs2108809527	394	R>T		No	Ensembl
rs1718130512	395	S>A		No	Ensembl
rs1209841422	395	S>C		No	gnomAD
rs1209841422	395	S>F		No	gnomAD
rs1209841422	395	S>Y		No	gnomAD
rs752034733	396	P>A		No	ExAC TOPMed gnomAD
rs1038188765	396	P>L		No	TOPMed gnomAD
rs752034733	396	P>S		No	ExAC TOPMed gnomAD
rs752034733	396	P>T		No	ExAC TOPMed gnomAD
rs2108809622	397	D>E		No	Ensembl
COSM3591203 COSM3591205 COSM3591204	397	D>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2108809602	397	D>H		No	Ensembl
rs2108809602	397	D>N		No	Ensembl
rs1577150297	397	D>V		No	Ensembl
rs2108809639	398	D>E		No	Ensembl
rs2108809629	398	D>H		No	Ensembl
rs2108809629	398	D>N		No	Ensembl
rs2108809650	399	E>K		No	Ensembl
rs2108809650	399	E>Q		No	Ensembl
rs2108809677	400	L>Q		No	Ensembl
rs1474486582	400	L>V		No	TOPMed gnomAD
rs2108809718	401	L>F		No	Ensembl
rs2108809691	401	L>I		No	Ensembl
rs2108809707	401	L>S		No	Ensembl
rs2108809691	401	L>V		No	Ensembl
rs2108809728	402	Y>F		No	Ensembl
rs926502142 RCV001767497	402	Y>H		No	ClinVar Ensembl dbSNP
rs2108809755	403	L>F		No	Ensembl
rs2108809735	403	L>I		No	Ensembl
rs2108809745	403	L>S		No	Ensembl
rs2108809767	404	P>A		No	Ensembl
rs2108809779	404	P>L		No	Ensembl
rs2108809779	404	P>R		No	Ensembl
rs2108809767	404	P>S		No	Ensembl
rs2108809767	404	P>T		No	Ensembl
rs1282887680	408	R>C		No	gnomAD
rs751698974	408	R>H		No	ExAC TOPMed gnomAD
COSM1647619 COSM729993	409	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1718603263	409	E>K		No	Ensembl
rs759975146	411	Y>C		No	ExAC TOPMed gnomAD
rs759975146	411	Y>F		No	ExAC TOPMed gnomAD
rs756520524	413	M>I		No	ExAC gnomAD
rs752959726	413	M>L		No	ExAC gnomAD
rs2108818491	413	M>R		No	Ensembl
rs1489154659	417	I>V		No	gnomAD
rs1219897178 COSM5142720 COSM5142721 COSM1421621	418	K>R	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
TCGA novel	422	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1433363007	424	M>T		No	TOPMed gnomAD
COSM1288584	425	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1458504566	425	Q>E		No	TOPMed gnomAD
rs1361527608	428	P>S		No	gnomAD
rs1718609645	429	Q>K		No	TOPMed
rs778551905	432	I>V		No	ExAC TOPMed gnomAD
rs745376905	433	E>Q		No	ExAC gnomAD
rs1302871830	435	Y>C		No	gnomAD
rs1302871830	435	Y>F		No	gnomAD
rs1718612893	438	Q>R		No	TOPMed
rs1022792371	439	Q>*		No	Ensembl
rs1292967051	439	Q>R		No	gnomAD
rs780062644	440	Q>E		No	ExAC TOPMed gnomAD
rs200973739	441	Q>*		No	1000Genomes
rs1327004251	441	Q>R		No	TOPMed gnomAD
rs1718615606	443	H>P		No	TOPMed
rs1718615950	443	H>Q		No	TOPMed gnomAD
rs1718616245	446	L>F		No	Ensembl
rs746969135	447	L>F		No	ExAC gnomAD
rs868749966	448	Q>*		No	Ensembl
rs768470821	448	Q>P		No	ExAC gnomAD
rs1718617565	450	Q>*		No	Ensembl
rs1718617565	450	Q>E		No	Ensembl
rs768589955	452	S>A		No	ExAC gnomAD
rs781491083	453	I>L		No	ExAC gnomAD
rs781491083	453	I>V		No	ExAC gnomAD
rs748655741	454	Q>P		No	ExAC gnomAD
rs770440796	455	S>A		No	ExAC gnomAD
rs1490266183	455	S>F		No	gnomAD
rs773649400	456	P>S		No	ExAC TOPMed gnomAD
rs577715207	457	S>P		No	1000Genomes TOPMed gnomAD
rs577715207	457	S>T		No	1000Genomes TOPMed gnomAD
COSM3591212 COSM3591213	458	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1237515956	458	S>P		No	gnomAD
rs1237515956	458	S>T		No	gnomAD
rs1720451774	460	G>D		No	Ensembl
rs1720452167	461	N>K		No	Ensembl
rs147181964	462	S>N		No	ESP ExAC TOPMed gnomAD
rs1720452873	463	S>F		No	Ensembl
rs1720453382	464	P>S		No	TOPMed
rs760545564	466	L>P		No	ExAC gnomAD
rs1720454726	467	N>K		No	Ensembl
rs1720455307	469	M>I		No	gnomAD
rs756980788	471	S>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
COSM4116023 COSM4116024	472	M>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1560301949	472	M>V		No	TOPMed gnomAD
rs1020716513	476	P>L		No	Ensembl
rs1449641939	476	P>T		No	gnomAD
rs867445574	476	P>Y		No	Ensembl
rs1720458105	479	S>N		No	TOPMed
rs1720458390	480	Q>E		No	Ensembl
rs1160791687	481	L>F		No	TOPMed
rs1720458929	482	I>M		No	gnomAD
COSM3591214 rs992044215 COSM3591215	483	N>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs751728506	484	P>T		No	ExAC gnomAD
rs781366519	487	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs781366519	487	R>P		No	ExAC TOPMed gnomAD
rs559082753	490	L>F		No	1000Genomes ExAC TOPMed gnomAD
rs1180417806	491	T>I		No	gnomAD
COSM3408517 COSM3408516	492	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1241133005	492	P>T		No	gnomAD
rs774842245	493	T>A		No	ExAC TOPMed gnomAD
rs910252082	494	T>I		No	TOPMed
rs373849345	495	I>V		No	ESP ExAC TOPMed gnomAD
rs1720464955	497	D>V		No	Ensembl
rs763644058	500	G>E		No	ExAC gnomAD
rs761878600	502	N>S		No	ExAC gnomAD
rs768151007	504	P>L		No	ExAC gnomAD
rs761599169	505	M>I		No	ExAC TOPMed gnomAD
rs183154960	505	M>V		No	1000Genomes ExAC TOPMed gnomAD
rs1419776229	506	M>I		No	TOPMed gnomAD
rs1394017323	507	G>S		No	TOPMed gnomAD
rs769778189	510	M>V		No	ExAC TOPMed gnomAD
rs1720781360	512	M>T		No	gnomAD
rs1261217150	512	M>V		No	TOPMed
rs1720782215	515	D>G		No	gnomAD
rs1376568738	517	N>D		No	gnomAD
rs1406340341	521	P>A		No	gnomAD
rs928205074	522	T>I		No	TOPMed
rs1577203119	522	T>P		No	Ensembl
rs1299137177	523	Q>K		No	TOPMed gnomAD
rs1362748295	523	Q>P		No	gnomAD
rs1276572584	526	P>L		No	gnomAD
COSM1693953 rs1438616472	526	P>S	skin [Cosmic]	No	cosmic curated TOPMed gnomAD
COSM4116026 COSM4116025	527	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1239219693	527	P>T		No	gnomAD
rs761041436	528	P>L		No	ExAC TOPMed gnomAD
rs761041436	528	P>R		No	ExAC TOPMed gnomAD
rs1720787963	528	P>S		No	TOPMed
rs576082435	529	L>F		No	1000Genomes ExAC gnomAD
rs1200324125	530	S>F		No	gnomAD
rs757636242	530	S>P		No	ExAC gnomAD
rs1439603831	531	M>I		No	gnomAD
rs1720790717	532	P>A		No	Ensembl
COSM3591218 COSM3591219 rs1360624743	533	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
rs1400284164	533	S>P		No	TOPMed
rs1720792175	534	T>P		No	TOPMed
rs1720793336	536	H>L		No	Ensembl
rs1720793046	536	H>Y		No	TOPMed
rs1720794541	539	P>H		No	TOPMed gnomAD
TCGA novel rs1720794270	539	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1720795171	540	P>S		No	Ensembl
rs1374623968	542	P>L		No	TOPMed gnomAD
rs1577203465	544	P>S		No	Ensembl
rs1720797138	545	T>I		No	gnomAD
rs773183774	547	C>W		No	ExAC TOPMed gnomAD
rs1488761159	550	V>I		No	TOPMed gnomAD
COSM1579196 rs770841605	551	S>G	breast [Cosmic]	No	cosmic curated ExAC gnomAD
COSM3427444 COSM3427443 rs1340744193 rs1720938127	552	F>L	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated TOPMed gnomAD
COSM4116027 COSM4116028	553	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs747808524	554	A>V		No	ExAC TOPMed gnomAD
COSM3591220 rs1720939209 COSM3591221	555	R>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic gnomAD
rs777488075	555	R>S		No	ExAC TOPMed gnomAD
rs868597502	559	S>L		No	Ensembl
rs200463179	559	S>P		No	Ensembl
VAR_020880	560	S>A	ovarian cancer [UniProt]	No	UniProt
rs774221257	562	L>R		No	ExAC gnomAD
rs1720942806	564	Y>C		No	TOPMed gnomAD
rs1041183255	567	T>N		No	Ensembl
rs1720944639	568	Q>E		No	TOPMed
rs1423103383	571	T>I		No	gnomAD
rs2108864901 RCV002214309	573	I>missing		No	ClinVar dbSNP
rs143884625	573	I>V		No	ESP ExAC TOPMed gnomAD
rs1172845743	574	Y>C		No	gnomAD
COSM4820675 COSM4820676	575	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM350827 rs1720947357	577	E>Q	lung [Cosmic]	No	cosmic curated gnomAD
rs1720947686	579	Y>C		No	Ensembl
rs121908846	580	S>A		No	ESP ExAC TOPMed gnomAD
rs1464459460	580	S>F		No	gnomAD
rs1402630316 COSM3591228 COSM3591227	581	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
rs1302119410	581	M>V		No	gnomAD
rs865905084 COSM3591229 COSM3591230	582	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl NCI-TCGA
rs1560310855	583	D>E		No	Ensembl
rs2108872876	583	D>H		No	Ensembl
COSM3591233 rs2108872876 COSM1693955	583	D>N	Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs2108872899	584	L>M		No	Ensembl
rs2108872899	584	L>V		No	Ensembl
rs2108872937	585	A>E		No	Ensembl
rs2108872937	585	A>G		No	Ensembl
rs1271173174	585	A>P		No	TOPMed
rs1271173174	585	A>S		No	TOPMed
rs1271173174	585	A>T		No	TOPMed
rs2108872937	585	A>V		No	Ensembl
rs2108872946	586	S>N		No	Ensembl
rs2108872952	586	S>R		No	Ensembl
rs2108872946	586	S>T		No	Ensembl
rs2108872973	587	L>P		No	Ensembl
rs2108872965	587	L>V		No	Ensembl
rs1156585844	588	K>E		No	gnomAD
rs2108872997	588	K>R		No	Ensembl
rs2108873005	589	I>F		No	Ensembl
rs2108873005	589	I>L		No	Ensembl
rs1359541917	589	I>M		No	gnomAD
rs2108873027	590	P>H		No	Ensembl
rs2108873027	590	P>L		No	Ensembl
rs2108873027	590	P>R		No	Ensembl
rs1560310917	590	P>S		No	Ensembl
rs2108873042	591	E>*		No	Ensembl
rs2108873059	591	E>D		No	Ensembl
rs2108873054	591	E>G		No	Ensembl
rs2108873042	591	E>K		No	Ensembl
rs2108873042	591	E>Q		No	Ensembl
rs2108873054	591	E>V		No	Ensembl
rs2108873068	592	Q>*		No	Ensembl
rs2108873068	592	Q>E		No	Ensembl
rs2108873083	592	Q>H		No	Ensembl
rs2108873078	592	Q>R		No	Ensembl
rs2108873089	593	F>I		No	Ensembl
rs748345687	593	F>L		No	ExAC gnomAD
rs2108873089	593	F>L		No	Ensembl
rs2108873089	593	F>V		No	Ensembl
rs2108873094	593	F>Y		No	Ensembl
rs900140738	594	R>G		No	TOPMed gnomAD
rs368336834	594	R>L		No	ESP ExAC TOPMed gnomAD
rs368336834	594	R>P		No	ESP ExAC TOPMed gnomAD
COSM5566486 COSM5566485 rs368336834	594	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
rs2108873127	595	H>D		No	Ensembl
rs2108873140	595	H>L		No	Ensembl
rs2108873127	595	H>N		No	Ensembl
rs1721296215	595	H>Q		No	TOPMed
rs2108873127	595	H>Y		No	Ensembl
rs773237715	596	A>E		No	ExAC TOPMed gnomAD
rs773237715	596	A>G		No	ExAC TOPMed gnomAD
rs2108873155	596	A>P		No	Ensembl
rs2108873155	596	A>T		No	Ensembl
rs773237715 COSM1042499 COSM4321617	596	A>V	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs2108873176	597	I>L		No	Ensembl
rs2108873189	597	I>M		No	Ensembl
rs1577213466	597	I>N		No	Ensembl
rs2108873195	598	W>*		No	Ensembl
rs1560311010	598	W>C		No	Ensembl
rs2108873195	598	W>L		No	Ensembl
rs2108873195	598	W>S		No	Ensembl
rs2108873206	599	K>*		No	Ensembl
rs2108873214	599	K>M		No	Ensembl
rs766498791	599	K>N		No	ExAC gnomAD
rs2108873214	599	K>R		No	Ensembl
rs1553863660	600	G>A		No	Ensembl
rs2108873231	600	G>C		No	Ensembl
rs2108873231	600	G>R		No	Ensembl
rs2108873231	600	G>S		No	Ensembl
rs2108873262	601	I>F		No	Ensembl
rs774812882	601	I>M		No	ExAC TOPMed gnomAD
rs2108873266	601	I>N		No	Ensembl
rs2108873266	601	I>T		No	Ensembl
rs760032006 RCV000422824 CA16604847	602	L>P		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs760032006	602	L>Q		No	ExAC TOPMed gnomAD
rs1721299628	603	D>A		No	TOPMed
rs1721299628	603	D>G		No	TOPMed
rs767906723	603	D>N		No	ExAC TOPMed gnomAD
rs767906723	603	D>Y		No	ExAC TOPMed gnomAD
rs2108873316	604	H>D		No	Ensembl
rs2108873323	604	H>L		No	Ensembl
rs2108873316	604	H>N		No	Ensembl
rs2108873323	604	H>P		No	Ensembl
rs2108873330	604	H>Q		No	Ensembl
rs2108873316	604	H>Y		No	Ensembl
rs777373892	605	R>G		No	gnomAD
rs142981128	605	R>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs142981128	605	R>P		No	1000Genomes ESP ExAC TOPMed gnomAD
rs777373892	605	R>W		No	gnomAD
rs2108873353	606	Q>*		No	Ensembl
rs2108873353	606	Q>E		No	Ensembl
rs978972833	606	Q>H		No	TOPMed gnomAD
rs2108873364	606	Q>L		No	Ensembl
rs2108873364	606	Q>R		No	Ensembl
rs2108873378	607	L>F		No	Ensembl
rs2108873378	607	L>I		No	Ensembl
rs1440083511 CA355751274 RCV000497551	607	L>P		No	ClinGen ClinVar TOPMed dbSNP
rs2108873378	607	L>V		No	Ensembl
rs2108873398	608	H>L		No	Ensembl
rs2108873398	608	H>P		No	Ensembl
TCGA novel	608	H>P	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs755722537	608	H>Q		No	ExAC TOPMed gnomAD
rs2108873398	608	H>R		No	Ensembl
rs2108873394	608	H>Y		No	Ensembl
rs142762485	609	E>*		No	gnomAD
rs142762485	609	E>Q		No	gnomAD
rs2108873425	609	E>V		No	Ensembl
rs753348806	610	F>C		No	ExAC
rs957895088	610	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs753348806	610	F>S		No	ExAC
rs753348806	610	F>Y		No	ExAC
rs2108873481	611	S>C		No	Ensembl
rs2108873481	611	S>F		No	Ensembl
rs2108873474	611	S>P		No	Ensembl
rs2108873474	611	S>T		No	Ensembl
rs2108873481	611	S>Y		No	Ensembl
rs2108873515	612	S>C		No	Ensembl
rs2108873515	612	S>F		No	Ensembl
rs2108873515	612	S>Y		No	Ensembl
CA201154 RCV000174740 rs794727122	613	P>missing		No	ClinGen ClinVar dbSNP
rs868285317	613	P>A		No	Ensembl
rs1191791499	613	P>L		No	TOPMed gnomAD
rs868285317	613	P>S		No	Ensembl
rs868285317	613	P>T		No	Ensembl
rs2108873581	614	S>C		No	Ensembl
rs2108873581	614	S>F		No	Ensembl
rs2108873576	614	S>P		No	Ensembl
rs2108873581	614	S>Y		No	Ensembl
rs758920087	615	H>L		No	gnomAD
rs2108873600	615	H>N		No	Ensembl
rs758920087	615	H>P		No	gnomAD
rs758920087	615	H>R		No	gnomAD
rs2108873600 COSM3915567 COSM3915566	615	H>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs2108873628	616	L>F		No	Ensembl
rs2108873628	616	L>I		No	Ensembl
rs2108873652	617	L>M		No	Ensembl
rs2108873652	617	L>V		No	Ensembl
rs1455505991	618	R>G		No	TOPMed gnomAD
rs778606951	618	R>L		No	ExAC TOPMed gnomAD
rs778606951	618	R>P		No	ExAC TOPMed gnomAD
rs778606951	618	R>Q		No	ExAC TOPMed gnomAD
rs1455505991	618	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs2108873695	619	T>I		No	Ensembl
rs2108873695	619	T>S		No	Ensembl
rs1721306167	620	P>A		No	1000Genomes gnomAD
rs2108873724	620	P>L		No	Ensembl
rs2108873724	620	P>Q		No	Ensembl
rs2108873724	620	P>R		No	Ensembl
rs1721306167	620	P>S		No	1000Genomes gnomAD
rs1721306167	620	P>T		No	1000Genomes gnomAD
rs1379436019	621	S>G		No	TOPMed gnomAD
rs2108873751	621	S>I		No	Ensembl
rs2108873751	621	S>N		No	Ensembl
rs2108873765	621	S>R		No	Ensembl
rs2108873751	621	S>T		No	Ensembl
rs2108873774	622	S>C		No	Ensembl
rs2108873778	622	S>N		No	Ensembl
rs750361205	622	S>R		No	ExAC TOPMed gnomAD
rs2108873778	622	S>T		No	Ensembl
rs2108873801	623	A>D		No	Ensembl
rs2108873801	623	A>G		No	Ensembl
rs2108873795	623	A>P		No	Ensembl
rs2108873795	623	A>T		No	Ensembl
rs2108873801	623	A>V		No	Ensembl
rs2108873825	624	S>C		No	Ensembl
rs2108873825	624	S>F		No	Ensembl
rs2108873819	624	S>P		No	Ensembl
rs2108873819	624	S>T		No	Ensembl
TCGA novel	624	S>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2108873838	625	T>A		No	Ensembl
rs2108873849	625	T>I		No	Ensembl
rs2108873849	625	T>K		No	Ensembl
rs2108873838	625	T>P		No	Ensembl
rs2108873849	625	T>R		No	Ensembl
rs2108873838	625	T>S		No	Ensembl
rs372318389	626	V>A		No	ESP ExAC TOPMed gnomAD
TCGA novel	626	V>missing	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs372318389	626	V>D		No	ESP ExAC TOPMed gnomAD
rs2108873864	626	V>I		No	Ensembl
rs2108873864	626	V>L		No	Ensembl
rs575345871	627	S>C		No	1000Genomes ExAC gnomAD
rs575345871	627	S>G		No	1000Genomes ExAC gnomAD
rs1721308987	627	S>R		No	Ensembl
rs1293584292	627	S>T		No	gnomAD
rs2108873913	628	V>L		No	Ensembl
rs2108873913	628	V>M		No	Ensembl
rs1721309458	629	G>A		No	Ensembl
rs769956674 COSM582869 COSM6097347 COSM6097348	629	G>C	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated NCI-TCGA Cosmic ExAC gnomAD
COSM1268383 rs1721309458	629	G>D	oesophagus [Cosmic]	No	cosmic curated Ensembl
rs769956674	629	G>R		No	ExAC gnomAD
rs1721309458	629	G>V		No	Ensembl
rs1721310059 COSM3846996 COSM3846997	630	S>C	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs1721310059 COSM3591241 COSM3591242	630	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs2108873954	630	S>T		No	Ensembl
rs1721310059	630	S>Y		No	Ensembl
rs1475677742	631	S>C		No	TOPMed
rs1475677742	631	S>G		No	TOPMed
rs1445213116	631	S>I		No	gnomAD
rs2108873991	631	S>R		No	Ensembl
rs1445213116	631	S>T		No	gnomAD
rs2108874005	632	E>D		No	Ensembl
rs2108873999	632	E>G		No	Ensembl
COSM4991910 COSM4991909	632	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2108873996	632	E>Q		No	Ensembl
rs2108873999	632	E>V		No	Ensembl
rs777952899	633	T>A		No	ExAC gnomAD
rs1411272519	633	T>I		No	TOPMed gnomAD
rs1411272519	633	T>N		No	TOPMed gnomAD
rs777952899	633	T>P		No	ExAC gnomAD
rs1411272519	633	T>S		No	TOPMed gnomAD
rs777952899	633	T>S		No	ExAC gnomAD
rs921649285	634	R>L		No	TOPMed gnomAD
rs921649285	634	R>P		No	TOPMed gnomAD
rs921649285	634	R>Q		No	TOPMed gnomAD
rs1283807013	634	R>W		No	TOPMed gnomAD
rs2108874075	635	G>A		No	Ensembl
rs1242688206	635	G>C		No	TOPMed gnomAD
rs2108874075	635	G>D		No	Ensembl
rs1242688206	635	G>R		No	TOPMed gnomAD
rs1242688206	635	G>S		No	TOPMed gnomAD
rs2108874075	635	G>V		No	Ensembl
TCGA novel	635	G>V	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs376926686	636	E>A		No	ESP ExAC gnomAD
rs2108874101	636	E>D		No	Ensembl
rs376926686	636	E>G		No	ESP ExAC gnomAD
rs1721312256	636	E>K		No	TOPMed gnomAD
rs1721312256	636	E>Q		No	TOPMed gnomAD
rs376926686	636	E>V		No	ESP ExAC gnomAD
COSM1042501 rs1721312849	637	R>C	Variant assessed as Somatic; MODERATE impact. pancreas endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs1721312849	637	R>G		No	Ensembl
rs770997588	637	R>H		No	ExAC TOPMed gnomAD
rs770997588	637	R>P		No	ExAC TOPMed gnomAD
rs1721312849	637	R>S		No	Ensembl
rs2108874146	638	V>D		No	Ensembl
rs2108874146	638	V>G		No	Ensembl
rs1267295503	638	V>I		No	gnomAD
rs1267295503	638	V>L		No	gnomAD
rs2108874160	639	I>F		No	Ensembl
rs2108874160	639	I>L		No	Ensembl
rs2108874166	639	I>N		No	Ensembl
rs2108874166	639	I>S		No	Ensembl
rs2108874160	639	I>V		No	Ensembl
rs2108874204	640	D>A		No	Ensembl
rs2108874188	640	D>H		No	Ensembl
rs2108874188	640	D>N		No	Ensembl
rs2108874204	640	D>V		No	Ensembl
rs2108874188	640	D>Y		No	Ensembl
rs2108874215	641	A>P		No	Ensembl
rs2108874215	641	A>T		No	Ensembl
RCV000485320 CA16617859 rs1064793283	641	A>V		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel	642	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2108874243	642	V>E		No	Ensembl
rs2108874243	642	V>G		No	Ensembl
rs2108874234	642	V>L		No	Ensembl
rs2108874234	642	V>M		No	Ensembl
rs1560311554	643	R>G	Limb-mammary syndrome (lms) [Ensembl]	No	Ensembl
rs2108874267	643	R>P		No	Ensembl
rs2108874288	644	F>C		No	Ensembl
rs760026775	644	F>I		No	ExAC gnomAD
rs2108874298	644	F>L		No	Ensembl
rs760026775	644	F>L		No	ExAC gnomAD
rs760026775	644	F>V		No	ExAC gnomAD
rs2108874288	644	F>Y		No	Ensembl
rs1176713026	645	T>A		No	gnomAD
rs2108874316	645	T>I		No	Ensembl
rs2108874316	645	T>N		No	Ensembl
rs1176713026	645	T>P		No	gnomAD
rs2108874316	645	T>S		No	Ensembl
rs1176713026	645	T>S		No	gnomAD
rs1721315098	646	L>F		No	TOPMed gnomAD
rs2108874342	646	L>H		No	Ensembl
rs1721315098	646	L>I		No	TOPMed gnomAD
COSM3591244 COSM3591245 rs1721315098	646	L>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic TOPMed gnomAD
rs1051829008	647	R>G		No	TOPMed gnomAD
rs774550896	647	R>H		No	gnomAD
rs1051829008	647	R>S		No	TOPMed gnomAD
rs2108874385	648	Q>E		No	Ensembl
rs1721316220	648	Q>H		No	TOPMed
rs2108874385	648	Q>K		No	Ensembl
rs2108874397	648	Q>L		No	Ensembl
rs2108874397	648	Q>R		No	Ensembl
rs772458842	649	T>I		No	ExAC gnomAD
rs772458842	649	T>N		No	ExAC gnomAD
rs772458842	649	T>S		No	ExAC gnomAD
rs140149400	650	I>F		No	ESP
rs140149400	650	I>L		No	ESP
rs1023563516	650	I>M		No	TOPMed gnomAD
rs2108874443	650	I>T		No	Ensembl
rs140149400	650	I>V		No	ESP
rs2108874454	651	S>T		No	Ensembl
rs2108874474	652	F>L		No	Ensembl
rs2108874487	653	P>A		No	Ensembl
rs1721317872	653	P>L		No	TOPMed gnomAD
rs1721317872	653	P>Q		No	TOPMed gnomAD
rs1721317872	653	P>R		No	TOPMed gnomAD
rs2108874487	653	P>S		No	Ensembl
rs2108874487	653	P>T		No	Ensembl
rs2108874513	654	P>A		No	Ensembl
rs2108874519	654	P>H		No	Ensembl
rs2108874519	654	P>L		No	Ensembl
rs2108874519	654	P>R		No	Ensembl
rs2108874513	654	P>S		No	Ensembl
rs2108874513	654	P>T		No	Ensembl
rs760967074	655	R>*		No	ExAC gnomAD
rs760967074	655	R>G		No	ExAC gnomAD
COSM362253 rs764601563	655	R>L	lung [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs764601563	655	R>P		No	ExAC TOPMed gnomAD
rs2108874566	656	D>A		No	Ensembl
rs2108874577	656	D>E		No	Ensembl
rs2108874566	656	D>G		No	Ensembl
rs2108874561	656	D>H		No	Ensembl
rs2108874561	656	D>N		No	Ensembl
rs2108874566	656	D>V		No	Ensembl
COSM6164326 rs1721319177 COSM6164327 COSM1537464	657	E>D	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated TOPMed NCI-TCGA Cosmic
rs1213873148	657	E>G		No	gnomAD
COSM1693957 rs2108874586	657	E>K	skin [Cosmic]	No	cosmic curated Ensembl
rs2108874586	657	E>Q		No	Ensembl
rs1213873148	657	E>V		No	gnomAD
rs2108874630 COSM1693958	658	W>*	skin [Cosmic]	No	cosmic curated Ensembl
rs2108874630	658	W>C		No	Ensembl
rs2108874616	658	W>R		No	Ensembl
rs2108874639	659	N>D		No	Ensembl
rs1422850371	659	N>K		No	gnomAD
rs1721319395	659	N>S		No	gnomAD
rs1721319395	659	N>T		No	gnomAD
rs2108874674	660	D>A		No	Ensembl
rs1721320037	660	D>E		No	Ensembl
rs2108874674	660	D>G		No	Ensembl
rs1164945219	660	D>H		No	gnomAD
rs1164945219	660	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs2108874674	660	D>V		No	Ensembl
rs2108874703	661	F>I		No	Ensembl
rs2108874703	661	F>L		No	Ensembl
rs2108874714	661	F>Y		No	Ensembl
rs544216571	662	N>D		No	1000Genomes ExAC TOPMed gnomAD
rs761624304	662	N>I		No	ExAC gnomAD
rs764783466	662	N>K		No	ExAC TOPMed gnomAD
rs761624304 COSM3591249 COSM3591248	662	N>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs761624304	662	N>T		No	ExAC gnomAD
rs2108874743	663	F>Y		No	Ensembl
rs2108874768	664	D>E		No	Ensembl
rs1037603668	664	D>G		No	TOPMed
rs2108874753	664	D>H		No	Ensembl
rs2108874753	664	D>N		No	Ensembl
rs1037603668	664	D>V		No	TOPMed
rs2108874781	665	M>L		No	Ensembl
rs2108874781 COSM1421623	665	M>V	large_intestine [Cosmic]	No	cosmic curated Ensembl
rs2108874809	666	D>H		No	Ensembl
rs2108874809	666	D>N		No	Ensembl
rs2108874819	666	D>V		No	Ensembl
rs2108874829	667	A>D		No	Ensembl
rs2108874829	667	A>G		No	Ensembl
rs2108874823	667	A>T		No	Ensembl
rs2108874829	667	A>V		No	Ensembl
rs749906547	668	R>C		No	ExAC TOPMed gnomAD
rs749906547	668	R>G		No	ExAC TOPMed gnomAD
rs758317410	668	R>L		No	ExAC TOPMed gnomAD
rs749906547	668	R>S		No	ExAC TOPMed gnomAD
rs143676789	669	R>C		No	ESP ExAC TOPMed gnomAD
rs369266838 RCV000896520	669	R>H		No	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs369266838	669	R>L		No	ESP ExAC TOPMed gnomAD
rs754740287	670	N>H		No	ExAC gnomAD
rs781036753	670	N>S		No	ExAC gnomAD
rs564216332	671	K>N		No	1000Genomes ExAC gnomAD
rs1257372320	672	Q>P		No	gnomAD
rs1257372320	672	Q>R		No	gnomAD
rs972760958	674	R>C		No	TOPMed gnomAD
rs34713855	674	R>L		No	ESP ExAC TOPMed gnomAD
rs34713855	674	R>P		No	ESP ExAC TOPMed gnomAD
COSM3591253 COSM3591252	677	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs772579873	677	E>Q		No	ExAC gnomAD
rs761305330	679	G>R		No	ExAC TOPMed gnomAD
rs761305330	679	G>W		No	ExAC TOPMed gnomAD
rs1039227920	680	E>D		No	TOPMed
rs777148748	681	E>L		No	ExAC gnomAD

8 associated diseases with Q9H3D4

[MIM: 103285]: Acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome)

A form of ectodermal dysplasia. Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. ADULT syndrome involves ectrodactyly, syndactyly, finger- and toenail dysplasia, hypoplastic breasts and nipples, intensive freckling, lacrimal duct atresia, frontal alopecia, primary hypodontia and loss of permanent teeth. ADULT syndrome differs significantly from EEC3 syndrome by the absence of facial clefting. Inheritance is autosomal dominant. . Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 106260]: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC)

An autosomal dominant condition characterized by congenital ectodermal dysplasia with coarse, wiry, sparse hair, dystrophic nails, slight hypohidrosis, scalp infections, ankyloblepharon filiform adnatum, maxillary hypoplasia, hypodontia and cleft lip/palate. . Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 604292]: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)

A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is an autosomal dominant syndrome characterized by ectrodactyly of hands and feet, ectodermal dysplasia and facial clefting. . Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 605289]: Split-hand/foot malformation 4 (SHFM4)

A limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients have been found to have intellectual disability, ectodermal and craniofacial findings, and orofacial clefting. . Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 603543]: Limb-mammary syndrome (LMS)

Characterized by ectrodactyly, cleft palate and mammary-gland abnormalities. . Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 129400]: Rapp-Hodgkin syndrome (RHS)

A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by the combination of anhidrotic ectodermal dysplasia, cleft lip, and cleft palate. The clinical syndrome is comprised of a characteristic facies (narrow nose and small mouth), wiry, slow-growing, and uncombable hair, sparse eyelashes and eyebrows, obstructed lacrimal puncta/epiphora, bilateral stenosis of external auditory canals, microsomia, hypodontia, cone-shaped incisors, enamel hypoplasia, dystrophic nails, and cleft lip/cleft palate. RHS inheritance is autosomal dominant. . Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 618149]: Orofacial cleft 8 (OFC8)

A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum. . Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 620311]: Premature ovarian failure 21 (POF21)

A form of premature ovarian failure, an ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. POF21 inheritance is autosomal dominant. . Note=The disease is caused by variants affecting the gene represented in this entry. Gain-of-function variants located in the transactivation inhibition domain are responsible for premature ovarian failure by inducing accelerated oocyte loss, as shown in mutant mice carrying the pathogenic variant p.Arg647Cys. .

Without disease ID

A form of ectodermal dysplasia. Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. ADULT syndrome involves ectrodactyly, syndactyly, finger- and toenail dysplasia, hypoplastic breasts and nipples, intensive freckling, lacrimal duct atresia, frontal alopecia, primary hypodontia and loss of permanent teeth. ADULT syndrome differs significantly from EEC3 syndrome by the absence of facial clefting. Inheritance is autosomal dominant. . Note=The disease is caused by variants affecting the gene represented in this entry.
An autosomal dominant condition characterized by congenital ectodermal dysplasia with coarse, wiry, sparse hair, dystrophic nails, slight hypohidrosis, scalp infections, ankyloblepharon filiform adnatum, maxillary hypoplasia, hypodontia and cleft lip/palate. . Note=The disease is caused by variants affecting the gene represented in this entry.
A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is an autosomal dominant syndrome characterized by ectrodactyly of hands and feet, ectodermal dysplasia and facial clefting. . Note=The disease is caused by variants affecting the gene represented in this entry.
A limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients have been found to have intellectual disability, ectodermal and craniofacial findings, and orofacial clefting. . Note=The disease is caused by variants affecting the gene represented in this entry.
Characterized by ectrodactyly, cleft palate and mammary-gland abnormalities. . Note=The disease is caused by variants affecting the gene represented in this entry.
A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by the combination of anhidrotic ectodermal dysplasia, cleft lip, and cleft palate. The clinical syndrome is comprised of a characteristic facies (narrow nose and small mouth), wiry, slow-growing, and uncombable hair, sparse eyelashes and eyebrows, obstructed lacrimal puncta/epiphora, bilateral stenosis of external auditory canals, microsomia, hypodontia, cone-shaped incisors, enamel hypoplasia, dystrophic nails, and cleft lip/cleft palate. RHS inheritance is autosomal dominant. . Note=The disease is caused by variants affecting the gene represented in this entry.
A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum. . Note=The disease is caused by variants affecting the gene represented in this entry.
A form of premature ovarian failure, an ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. POF21 inheritance is autosomal dominant. . Note=The disease is caused by variants affecting the gene represented in this entry. Gain-of-function variants located in the transactivation inhibition domain are responsible for premature ovarian failure by inducing accelerated oocyte loss, as shown in mutant mice carrying the pathogenic variant p.Arg647Cys. .

4 regional properties for Q9H3D4

Type	Name	Position	InterPro Accession
domain	Sterile alpha motif domain	541 - 607	IPR001660
domain	p53, tetramerisation domain	391 - 431	IPR010991
domain	p53, DNA-binding domain	168 - 358	IPR011615
domain	Tumour protein p63, SAM domain	543 - 607	IPR037611

Functions

		Description
EC Number
Subcellular Localization	Nucleus
PANTHER Family	PTHR11447	CELLULAR TUMOR ANTIGEN P53
PANTHER Subfamily	PTHR11447:SF8	TUMOR PROTEIN 63
PANTHER Protein Class	P53-like transcription factor immunoglobulin fold transcription factor
PANTHER Pathway Category	p53 pathway feedback loops 2 p53 p53 pathway by glucose deprivation p53 P53 pathway feedback loops 1 p73DeltaN p53 pathway p53 P53 pathway feedback loops 1 p53 Huntington disease p53 P53 pathway feedback loops 1 p73DeltaN p53 pathway p53

5 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.
dendrite	A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body.
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
chromatin binding	Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.
damaged DNA binding	Binding to damaged DNA.
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
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.
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.
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 transcription regulatory region sequence-specific DNA binding	Binding to a specific sequence of DNA that is part of a regulatory region that controls the transcription of a gene or cistron by RNA polymerase II.
WW domain binding	Binding to a WW domain of a protein, a small module composed of 40 amino acids and plays a role in mediating protein-protein interactions via proline-rich regions.

52 GO annotations of biological process

Name	Definition
apoptotic process	A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
cellular senescence	A cell aging process stimulated in response to cellular stress, whereby normal cells lose the ability to divide through irreversible cell cycle arrest.
chromatin remodeling	A dynamic process of chromatin reorganization resulting in changes to chromatin structure. These changes allow DNA metabolic processes such as transcriptional regulation, DNA recombination, DNA repair, and DNA replication.
cloacal septation	The separation of the single opening of the digestive, urinary, and reproductive tracts, the cloaca, into multiple isolated openings during development.
cranial skeletal system development	The process whose specific outcome is the progression of a cranial skeletal system over time, from its formation to the mature structure. The cranial skeletal system is the skeletal subdivision of the head, and includes the skull (cranium plus mandible), pharyngeal and/or hyoid apparatus.
determination of adult lifespan	The pathways that regulate the duration of the adult phase of the life-cycle of an animal.
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.
ectoderm and mesoderm interaction	A cell-cell signaling process occurring between the two gastrulation-generated layers of the ectoderm and the mesoderm.
embryonic forelimb morphogenesis	The process, occurring in the embryo, by which the anatomical structures of the forelimb are generated and organized. The forelimbs are the front limbs of an animal, e.g. the arms of a human.
embryonic hindlimb morphogenesis	The process, occurring in the embryo, by which the anatomical structures of the hindlimbs are generated and organized. The hindlimbs are the posterior limbs of an animal.
epidermal cell division	Any process resulting in the physical partitioning and separation of an epidermal cell, any of the cells making up the epidermis, into daughter cells.
epithelial cell development	The process whose specific outcome is the progression of an epithelial cell over time, from its formation to the mature structure. An epithelial cell is a cell usually found in a two-dimensional sheet with a free surface.
establishment of planar polarity	Coordinated organization of groups of cells in the plane of an epithelium, such that they all orient to similar coordinates.
establishment of skin barrier	Establishment of the epithelial barrier, the functional barrier in the skin that limits its permeability.
female genitalia morphogenesis	The process in which the anatomical structures of female genitalia are generated and organized.
hair follicle morphogenesis	The process in which the anatomical structures of the hair follicle are generated and organized.
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.
keratinocyte differentiation	The process in which a relatively unspecialized cell acquires specialized features of a keratinocyte.
keratinocyte proliferation	The multiplication or reproduction of keratinocytes, resulting in the expansion of a cell population. Keratinocytes are epidermal cells which synthesize keratin and undergo a characteristic change as they move upward from the basal layers of the epidermis to the cornified (horny) layer of the skin.
negative regulation of cellular senescence	Any process that stops, prevents or reduces the frequency, rate or extent of cellular senescence.
negative regulation of DNA-templated transcription	Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
negative regulation of intracellular estrogen receptor signaling pathway	Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of an intracellular estrogen receptor signaling pathway.
negative regulation of keratinocyte differentiation	Any process that stops, prevents, or reduces the frequency, rate or extent of keratinocyte differentiation.
negative regulation of mesoderm development	Any process that stops, prevents or reduces the frequency, rate or extent of mesoderm development.
negative regulation of transcription by RNA polymerase II	Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
neuron apoptotic process	Any apoptotic process in a neuron, the basic cellular unit of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system.
Notch signaling pathway	The series of molecular signals initiated by an extracellular ligand binding to the receptor Notch on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
odontogenesis of dentin-containing tooth	The process whose specific outcome is the progression of a dentin-containing tooth over time, from its formation to the mature structure. A dentin-containing tooth is a hard, bony organ borne on the jaw or other bone of a vertebrate, and is composed mainly of dentin, a dense calcified substance, covered by a layer of enamel.
polarized epithelial cell differentiation	The process in which a relatively unspecialized cell acquires specialized features of a polarized epithelial cell. The polarized epithelial cell can be any of the cells within an epithelium where the epithelial sheet is oriented with respect to the planar axis.
positive regulation of apoptotic signaling pathway	Any process that activates or increases the frequency, rate or extent of apoptotic signaling pathway.
positive regulation of cell cycle G1/S phase transition	Any signalling pathway that activates or increases the activity of a cell cycle cyclin-dependent protein kinase to modulate the switch from G1 phase to S phase of the cell cycle.
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 fibroblast apoptotic process	Any process that activates or increases the frequency, rate or extent of fibroblast apoptotic process.
positive regulation of keratinocyte proliferation	Any process that increases the rate, frequency or extent of keratinocyte proliferation. Keratinocyte proliferation is the multiplication or reproduction of keratinocytes, resulting in the expansion of a cell population.
positive regulation of Notch signaling pathway	Any process that activates or increases the frequency, rate or extent of the Notch signaling pathway.
positive regulation of osteoblast differentiation	Any process that activates or increases the frequency, rate or extent of osteoblast differentiation.
positive regulation of somatic stem cell population maintenance	Any process that activates or increases the frequency, rate or extent of somatic stem cell population maintenance.
positive regulation of stem cell proliferation	Any process that activates or increases the frequency, rate or extent of stem cell proliferation.
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.
post-anal tail morphogenesis	The process in which a post-anal tail is generated and organized. A post-anal tail is a muscular region of the body that extends posterior to the anus. The post-anal tail may aid locomotion and balance.
prostatic bud formation	The morphogenetic process in which a region of the fetal urogenital sinus epithelium is specified to become the prostate, resulting in prostate bud outgrowth.
protein tetramerization	The formation of a protein tetramer, a macromolecular structure consisting of four noncovalently associated identical or nonidentical subunits.
proximal/distal pattern formation	The regionalization process in which specific areas of cell differentiation are determined along a proximal/distal axis. The proximal/distal axis is defined by a line that runs from main body (proximal end) of an organism outward (distal end).
regulation of epidermal cell division	Any process that modulates the frequency, rate or extent of the physical partitioning and separation of an epidermal cell into daughter cells. An epidermal cell is any of the cells that make up the epidermis.
regulation of transcription by RNA polymerase II	Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.
skeletal system development	The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton).
skin morphogenesis	The process in which the anatomical structures of the skin are generated and organized. The skin is the external membranous integument of an animal. In vertebrates the skin generally consists of two layers, an outer nonsensitive and nonvascular epidermis (cuticle or skarfskin) composed of cells which are constantly growing and multiplying in the deeper, and being thrown off in the superficial layers, as well as an inner, sensitive and vascular dermis (cutis, corium or true skin) composed mostly of connective tissue.
spermatogenesis	The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa.
squamous basal epithelial stem cell differentiation involved in prostate gland acinus development	The process in which a relatively unspecialized epithelial cell acquires specialized features of a squamous basal epithelial stem cell of the prostate.
stem cell proliferation	The multiplication or reproduction of stem cells, resulting in the expansion of a stem cell population. A stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells.
sympathetic nervous system development	The process whose specific outcome is the progression of the sympathetic nervous system over time, from its formation to the mature structure. The sympathetic nervous system is one of the two divisions of the vertebrate autonomic nervous system (the other being the parasympathetic nervous system). The sympathetic preganglionic neurons have their cell bodies in the thoracic and lumbar regions of the spinal cord and connect to the paravertebral chain of sympathetic ganglia. Innervate heart and blood vessels, sweat glands, viscera and the adrenal medulla. Most sympathetic neurons, but not all, use noradrenaline as a post-ganglionic neurotransmitter.
transcription by RNA polymerase II	The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs).

6 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P04637	TP53	Cellular tumor antigen p53	Homo sapiens (Human)	EV
O15350	TP73	Tumor protein p73	Homo sapiens (Human)	SS
Q9JJP2	Tp73	Tumor protein p73	Mus musculus (Mouse)	SS
O88898	Tp63	Tumor protein 63	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
MNFETSRCAT	LQYCPDPYIQ	RFVETPAHFS	WKESYYRSTM	SQSTQTNEFL	SPEVFQHIWD
70	80	90	100	110	120
FLEQPICSVQ	PIDLNFVDEP	SEDGATNKIE	ISMDCIRMQD	SDLSDPMWPQ	YTNLGLLNSM
130	140	150	160	170	180
DQQIQNGSSS	TSPYNTDHAQ	NSVTAPSPYA	QPSSTFDALS	PSPAIPSNTD	YPGPHSFDVS
190	200	210	220	230	240
FQQSSTAKSA	TWTYSTELKK	LYCQIAKTCP	IQIKVMTPPP	QGAVIRAMPV	YKKAEHVTEV
250	260	270	280	290	300
VKRCPNHELS	REFNEGQIAP	PSHLIRVEGN	SHAQYVEDPI	TGRQSVLVPY	EPPQVGTEFT
310	320	330	340	350	360
TVLYNFMCNS	SCVGGMNRRP	ILIIVTLETR	DGQVLGRRCF	EARICACPGR	DRKADEDSIR
370	380	390	400	410	420
KQQVSDSTKN	GDGTKRPFRQ	NTHGIQMTSI	KKRRSPDDEL	LYLPVRGRET	YEMLLKIKES
430	440	450	460	470	480
LELMQYLPQH	TIETYRQQQQ	QQHQHLLQKQ	TSIQSPSSYG	NSSPPLNKMN	SMNKLPSVSQ
490	500	510	520	530	540
LINPQQRNAL	TPTTIPDGMG	ANIPMMGTHM	PMAGDMNGLS	PTQALPPPLS	MPSTSHCTPP
550	560	570	580	590	600
PPYPTDCSIV	SFLARLGCSS	CLDYFTTQGL	TTIYQIEHYS	MDDLASLKIP	EQFRHAIWKG
610	620	630	640	650	660
ILDHRQLHEF	SSPSHLLRTP	SSASTVSVGS	SETRGERVID	AVRFTLRQTI	SFPPRDEWND
670
FNFDMDARRN	KQQRIKEEGE