AiPD: Autoinhibited Protein Database

Q9Y6K1

Gene name	DNMT3A
Protein name	DNA (cytosine-5)-methyltransferase 3A
Names	Dnmt3a, Cysteine methyltransferase DNMT3A, DNA methyltransferase HsaIIIA, DNA MTase HsaIIIA, M.HsaIIIA
Species	Homo sapiens (Human)
KEGG Pathway	hsa:1788
EC number	2.1.1.37: Methyltransferases
Protein Class	DNA CYTOSINE-5- -METHYLTRANSFERASE 3-RELATED (PTHR23068)

Descriptions

DNMT3A is required for genome-wide de novo methylation and is essential for the establishment of DNA methylation patterns during development. The ADD domain of DNMT3A inhibits the enzymatic activity of its catalytic domain (CD) by blocking DNA-binding. Both the ADD domain (476-609) and the ADD-linker (476-626) show comparable binding affinity to the CD domain, but only the ADD-linker (476-626) retains its inhibitory function. Therefore, both the ADD domain and linker are important for the autoinhibition of DNMT3A.

Autoinhibitory domains (AIDs)

Target domain	627-912 (Catalytic domain)
Relief mechanism	Partner binding
Assay	Deletion assay, Split protein assay, Mutagenesis experiment, Structural analysis

AID

476-626 (ADD-linker)

Target domain

627-912 (Catalytic domain)

Relief mechanism

Partner binding (Histone H3 tail binding to ADD domain)

Assay

Deletion assay, Split protein assay, Mutagenesis experiment, Structural analysis

Accessory elements

No accessory elements

References

Guo X et al. (2015) "Structural insight into autoinhibition and histone H3-induced activation of DNMT3A", Nature, 517, 640-4

Autoinhibited structure

Activated structure

20 structures for Q9Y6K1

Entry ID	Method	Resolution	Chain	Position	Source
2QRV	X-ray	289 A	A/D/E/H	627-912	PDB
3A1A	X-ray	230 A	A	476-614	PDB
3A1B	X-ray	229 A	A	476-614	PDB
3LLR	X-ray	230 A	A/B/C/D/E	275-427	PDB
3SVM	X-ray	231 A	P	40-53	PDB
4QBQ	X-ray	241 A	A/C	479-610	PDB
4QBR	X-ray	190 A	A/C	476-611	PDB
4QBS	X-ray	180 A	A	476-611	PDB
4U7P	X-ray	382 A	A	455-912	PDB
4U7T	X-ray	290 A	A/C	476-912	PDB
5YX2	X-ray	265 A	A/D	628-912	PDB
6BRR	X-ray	297 A	A/D	628-912	PDB
6F57	X-ray	310 A	A/D	628-912	PDB
6PA7	EM	294 A	K/P	224-912	PDB
6W89	X-ray	250 A	A/D/G/J	628-912	PDB
6W8B	X-ray	240 A	A/D/H/K	628-912	PDB
6W8D	X-ray	260 A	A/D	628-912	PDB
6W8J	X-ray	244 A	A/D	628-912	PDB
8BA5	X-ray	145 A	A	476-614	PDB
AF-Q9Y6K1-F1	Predicted				AlphaFoldDB

896 variants for Q9Y6K1

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs745380962 RCV000984105 CA346254529	3	A>S	Multiple myeloma [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001262399 rs2034255903	23	R>*	Tall stature-intellectual disability-facial dysmorphism syndrome [ClinVar]	Yes	ClinVar dbSNP
CA158313 RCV000120652 RCV000700793 rs199643287	44	T>M	Tall stature-intellectual disability-facial dysmorphism syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA346251655 rs1573454800 COSM1407123 RCV001028019	46	R>Q	Tall stature-intellectual disability-facial dysmorphism syndrome large_intestine [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs2031973986 RCV001330537	77	S>F	Tall stature-intellectual disability-facial dysmorphism syndrome [ClinVar]	Yes	ClinVar dbSNP
COSM1582846 rs1352259738 RCV001328488 CA346083673 COSM1582845	143	R>*	Intellectual disability stomach [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar TOPMed dbSNP
RCV001223254 CA1556479 rs767055283	149	A>V	Tall stature-intellectual disability-facial dysmorphism syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1675087282 RCV001255352	235	E>missing	Intellectual disability [ClinVar]	Yes	ClinVar dbSNP
RCV000549667 rs1553414406	246	A>missing	Tall stature-intellectual disability-facial dysmorphism syndrome [ClinVar]	Yes	ClinVar dbSNP
rs755398725 CA346075302 RCV001267236	296	V>L	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs587777506 RCV000128558	297	W>missing	Tall stature-intellectual disability-facial dysmorphism syndrome [ClinVar]	Yes	ClinVar dbSNP
rs797044904 CA204740 RCV000190731	298	G>W	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA10588955 rs766858016 RCV000256441	299	K>Q	Tall stature-intellectual disability-facial dysmorphism syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP
RCV000624203 RCV000498296 CA346075193 rs1553414070	301	R>W	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001266051 rs1674984864 RCV001171613	304	S>missing	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
RCV000760251 rs759380437 CA1556244	307	P>L	Acute myeloid leukemia [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000128560 VAR_071463 rs587777508 CA163314	310	I>N	Tall stature-intellectual disability-facial dysmorphism syndrome TBRS; somatic mutation [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
COSM133724 COSM1318922 COSM133721 CA1556234 RCV001227614 rs778270132	320	R>*	Tall stature-intellectual disability-facial dysmorphism syndrome haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
RCV000986095 rs1573340475 CA346074614	330	W>R	Heyn-Sproul-Jackson syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs760854242 CA1556221 RCV001879994 RCV001260609	332	G>R	Tall stature-intellectual disability-facial dysmorphism syndrome Intellectual disability [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA346074557 rs1573340335 RCV000986096	333	D>N	Heyn-Sproul-Jackson syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001249421 rs1674968007	333	D>V	DNMT3A-Related Disorder [ClinVar]	Yes	ClinVar dbSNP
RCV001003799 rs1573338559	345	M>missing	Acute myeloid leukemia [ClinVar]	Yes	ClinVar dbSNP
RCV000690485 rs1558671136	354	F>missing	Tall stature-intellectual disability-facial dysmorphism syndrome [ClinVar]	Yes	ClinVar dbSNP
rs144062658 CA43705906 VAR_077522	365	Y>C	TBRS; unknown pathological significance [UniProt]	Yes	ClinGen UniProt ESP dbSNP
CA204411 rs796065342 RCV000190418	402	Q>*	Early T cell progenitor acute lymphoblastic leukemia [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001266123 rs755744291	414	F>missing	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
RCV000696106 rs1558669964	415	Q>missing	Tall stature-intellectual disability-facial dysmorphism syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001281461 CA1556061 rs745406398	449	A>T	Intellectual disability [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1674744924 RCV001245491	455	K>*	Tall stature-intellectual disability-facial dysmorphism syndrome [ClinVar]	Yes	ClinVar dbSNP
CA346072464 rs779323387 RCV000816045	497	C>S	Tall stature-intellectual disability-facial dysmorphism syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA158334 RCV000558524 rs149738328 COSM231571 RCV000120655	501	N>S	Tall stature-intellectual disability-facial dysmorphism syndrome haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000652288 rs1553412880	504	L>missing	Tall stature-intellectual disability-facial dysmorphism syndrome [ClinVar]	Yes	ClinVar dbSNP
VAR_077523 CA43703790 rs962805778	529	D>N	TBRS; unknown pathological significance [UniProt]	Yes	ClinGen UniProt dbSNP gnomAD
rs951361433 VAR_071464 CA43703760	532	G>S	TBRS; somatic mutation [UniProt]	Yes	ClinGen UniProt TOPMed dbSNP
RCV000677140 rs1164367418	544	R>missing	Tall stature-intellectual disability-facial dysmorphism syndrome [ClinVar]	Yes	ClinVar dbSNP
CA346072131 rs1553412485 RCV000677682	545	E>G	Tall stature-intellectual disability-facial dysmorphism syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_071465 RCV000128561 rs587777509 CA163320	548	M>K	Tall stature-intellectual disability-facial dysmorphism syndrome TBRS; somatic mutation [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
RCV001266174 rs587777509	548	M>T	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
rs1674465974 RCV001256990	556	R>S	Rare genetic intellectual disability [ClinVar]	Yes	ClinVar dbSNP
RCV000536842 RCV000439792 rs1057520788 CA16604098	562	C>R	Tall stature-intellectual disability-facial dysmorphism syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000515481 COSM133127 CA16604180 RCV000436598 rs769419803	581	W>C	Tall stature-intellectual disability-facial dysmorphism syndrome haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
RCV000778096 rs1553412022	623	Y>missing	Tall stature-intellectual disability-facial dysmorphism syndrome [ClinVar]	Yes	ClinVar dbSNP
rs144689354 RCV000433567 COSM1407108 COSM87012 CA1555830 RCV000367312	635	R>W	Tall stature-intellectual disability-facial dysmorphism syndrome large_intestine haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000709939 rs1253868717 CA346071503	638	S>C	Tall stature-intellectual disability-facial dysmorphism syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA163308 RCV000128559 rs587777507 VAR_071467	648	L>P	Tall stature-intellectual disability-facial dysmorphism syndrome TBRS; somatic mutation [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1365479526 RCV001267322	680	K>missing	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
RCV000677427 CA1555759 rs750325978	696	Q>*	Tall stature-intellectual disability-facial dysmorphism syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_071468 rs772368909 CA1555750	700	P>L	TBRS; somatic mutation [UniProt]	Yes	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
RCV001251185 COSM442677 CA1555737 RCV000658860 rs367909007 COSM87011	714	S>C	Tall stature-intellectual disability-facial dysmorphism syndrome haematopoietic_and_lymphoid_tissue breast [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
VAR_071469 CA1555688 rs754613602 COSM219133	749	R>C	TBRS; somatic mutation haematopoietic_and_lymphoid_tissue [UniProt, Cosmic]	Yes	ClinGen cosmic curated UniProt ExAC TOPMed dbSNP gnomAD
RCV001237885 CA1555658 rs779626155 RCV000486209 COSM231563	771	R>*	Tall stature-intellectual disability-facial dysmorphism syndrome haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
RCV000622849 COSM87009 rs757823678 CA346069638	771	R>L	haematopoietic_and_lymphoid_tissue Inborn genetic diseases [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
CA1555657 COSM720760 RCV000505187 RCV000624769 COSM133732 rs757823678 VAR_077524	771	R>Q	lung Tall stature-intellectual disability-facial dysmorphism syndrome TBRS; unknown pathological significance endometrium haematopoietic_and_lymphoid_tissue Inborn genetic diseases [Cosmic, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD
VAR_077525 CA43698106 rs979932565	778	V>G	TBRS; unknown pathological significance [UniProt]	Yes	ClinGen UniProt TOPMed dbSNP gnomAD
CA43696528 rs961377711 VAR_071470 COSM231575	838	N>D	TBRS; somatic mutation haematopoietic_and_lymphoid_tissue [UniProt, Cosmic]	Yes	ClinGen cosmic curated UniProt dbSNP gnomAD
CA1555542 rs771174392 RCV000760250	842	Q>R	Acute myeloid leukemia [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000624328 CA1555540 rs781139634	846	Q>*	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1558653090 RCV000700133	847	H>missing	Tall stature-intellectual disability-facial dysmorphism syndrome [ClinVar]	Yes	ClinVar dbSNP
rs377577594 COSM53042 COSM1166704 CA1555491 VAR_067236	882	R>C	Myelodysplastic syndrome (mds) TBRS and AML; somatic variant in AML haematopoietic_and_lymphoid_tissue [Ensembl, UniProt, Cosmic]	Yes	ClinGen cosmic curated UniProt ESP ExAC TOPMed dbSNP gnomAD
rs377577594 COSM1583136 RCV000427931 CA16602366	882	R>G	Myelodysplastic syndrome (mds) haematopoietic_and_lymphoid_tissue Acute myeloid leukemia [Ensembl, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA1555488 COSM52944 COSM442676 VAR_067237 rs147001633	882	R>H	Myelodysplastic syndrome (mds) TBRS and AML; somatic variant in AML haematopoietic_and_lymphoid_tissue breast [Ensembl, UniProt, Cosmic]	Yes	ClinGen cosmic curated UniProt ESP ExAC TOPMed dbSNP gnomAD
rs147001633 CA1555490 RCV000445240 COSM1583129	882	R>L	Myelodysplastic syndrome (mds) haematopoietic_and_lymphoid_tissue Acute myeloid leukemia [Ensembl, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
VAR_067238 RCV000419470 rs147001633 RCV000436723 COSM99740 COSM3356083 CA1555489 RCV000427788	882	R>P	Myelodysplastic syndrome (mds) a patient with chronic myelomonocytic leukemia; somatic mutation Lung adenocarcinoma haematopoietic_and_lymphoid_tissue Acute myeloid leukemia Myelodysplastic syndrome [Ensembl, UniProt, ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
rs377577594 COSM87001 CA16602367 RCV000438614 RCV001782899	882	R>S	Myelodysplastic syndrome (mds) haematopoietic_and_lymphoid_tissue Acute myeloid leukemia [Ensembl, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000128562 VAR_071471 CA163326 rs587777510	902	F>S	Tall stature-intellectual disability-facial dysmorphism syndrome TBRS; somatic mutation [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
RCV000413992 VAR_071472 COSM87007 rs149095705 CA1555464 RCV001861418	904	P>L	DNMT3A-Related Disorder TBRS; somatic mutation haematopoietic_and_lymphoid_tissue [ClinVar, UniProt, Cosmic]	Yes	ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1558650888 CA346068047 RCV000785978	904	P>S	Glioblastoma [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001260611 rs1558650788 CA346068028	908	Y>N	Intellectual disability [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs745380962 CA1556578	3	A>T		No	ClinGen ExAC TOPMed gnomAD
CA346254517 rs1457508951	4	M>I		No	ClinGen gnomAD
rs1364437125 CA346254514	5	P>S		No	ClinGen gnomAD
rs773893946 CA1556577	6	S>A		No	ClinGen ExAC TOPMed gnomAD
rs770554124 CA1556576	7	S>G		No	ClinGen ExAC TOPMed gnomAD
CA1556574 rs781229619	8	G>S		No	ClinGen ExAC TOPMed gnomAD
CA346254472 rs1251105887	9	P>L		No	ClinGen gnomAD
rs752093845 CA1556572	10	G>R		No	ClinGen ExAC TOPMed gnomAD
rs752093845 CA1556571	10	G>R		No	ClinGen ExAC TOPMed gnomAD
CA44279229 rs1013949923	12	T>I		No	ClinGen TOPMed gnomAD
rs1013949923 CA346254435	12	T>S		No	ClinGen TOPMed gnomAD
CA346254415 rs1373614770	14	S>G		No	ClinGen gnomAD
rs1299885148 CA346254365	17	A>V		No	ClinGen gnomAD
rs1290646331 CA346254344	19	R>Q		No	ClinGen TOPMed gnomAD
COSM1169639 rs959218576 CA44279227	19	R>W	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA44279226 rs781254365 RCV000997084	20	E>K		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1360086489 CA346254317	21	E>G		No	ClinGen gnomAD
rs1351253637 CA346254309	22	D>N		No	ClinGen TOPMed
CA346254288 rs1174462913	23	R>P		No	ClinGen gnomAD
rs1174462913 CA346254286	23	R>Q		No	ClinGen gnomAD
CA346251796 rs1477239833	25	D>V		No	ClinGen gnomAD
rs781524740 CA1556554	26	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1440279401 CA346251780	28	E>K		No	ClinGen gnomAD
RCV000513872 CA158306 RCV000120651 rs143730975 COSM307361	30	E>A	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs143730975 CA346251761	30	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1556553 rs747483936	31	E>A		No	ClinGen ExAC gnomAD
rs1200194867 CA346251745	32	P>L		No	ClinGen gnomAD
CA1556551 rs758534627	33	R>C		No	ClinGen ExAC TOPMed gnomAD
rs746009417 CA1556550	33	R>H		No	ClinGen ExAC TOPMed gnomAD
CA346251737 rs1317444748	34	G>D		No	ClinGen TOPMed gnomAD
rs779208522 CA1556549	38	R>C		No	ClinGen ExAC TOPMed gnomAD
rs369618387 COSM94143 CA1556548	38	R>H	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs369618387 CA346251707	38	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1398341368 CA346251685	41	P>L		No	ClinGen TOPMed gnomAD
rs1391800442 CA346251690	41	P>S		No	ClinGen gnomAD
rs1465039597 CA346251683	42	S>G		No	ClinGen gnomAD
CA346251671 rs1417961680	43	T>I		No	ClinGen gnomAD
rs1417961680 CA346251673	43	T>S		No	ClinGen gnomAD
rs1553427894 RCV000486884	45	A>missing		No	ClinVar dbSNP
CA346251658 rs1367571644	46	R>W		No	ClinGen gnomAD
rs1468737197 COSM3839171 CA346251642	48	V>G	breast [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1438813586 CA346251633	50	R>W		No	ClinGen gnomAD
CA346251599 rs1457666600	55	R>H		No	ClinGen TOPMed gnomAD
rs1573454732 CA346251585	57	H>P		No	ClinGen Ensembl
rs139047498 CA346251581	57	H>Q		No	ClinGen ESP ExAC gnomAD
CA346251588 rs1273917027	57	H>Y		No	ClinGen gnomAD
CA1556542 rs772542252	59	P>L		No	ClinGen ExAC TOPMed gnomAD
RCV000964688 rs781108426 CA1556517	63	G>S		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA1556514 rs778149141	65	T>K		No	ClinGen ExAC TOPMed gnomAD
rs778149141 CA1556512	65	T>M		No	ClinGen ExAC TOPMed gnomAD
CA1556513 rs778149141	65	T>R		No	ClinGen ExAC TOPMed gnomAD
CA1556511 rs756237176	68	D>Y		No	ClinGen ExAC gnomAD
CA346084147 rs1284202162	70	A>T		No	ClinGen gnomAD
CA1556510 rs746884153	70	A>V		No	ClinGen ExAC TOPMed gnomAD
CA1556508 rs758401672	73	S>A		No	ClinGen ExAC gnomAD
rs750339895 CA1556507	75	S>F		No	ClinGen ExAC gnomAD
CA346084095 rs1558705159	78	M>T		No	ClinGen Ensembl
CA1556506 rs765111399	79	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1307202807 CA346084068	82	S>P		No	ClinGen Ensembl
rs753287419 CA1556504	84	A>T		No	ClinGen ExAC TOPMed gnomAD
CA1556503 rs763793247	84	A>V		No	ClinGen ExAC gnomAD
CA1556502 rs760236260	85	S>T		No	ClinGen ExAC gnomAD
CA346084048 rs1413294518	86	E>K		No	ClinGen gnomAD
CA1556499 rs769476651	90	N>S		No	ClinGen ExAC TOPMed gnomAD
rs771499883 CA1556496	96	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1556497 rs775033041	96	R>W		No	ClinGen ExAC gnomAD
CA346083940 rs1207709548	101	P>L		No	ClinGen TOPMed gnomAD
rs200559311 CA43726443	102	E>D		No	ClinGen 1000Genomes
CA1556494 rs773416352	102	E>G		No	ClinGen ExAC gnomAD
CA346083933 rs1273690844	103	E>K		No	ClinGen gnomAD
rs1315534478 CA346083921	104	G>E		No	ClinGen gnomAD
rs1224999314 CA346083916	105	S>N		No	ClinGen Ensembl
rs1277010838 CA346083908	106	P>H		No	ClinGen gnomAD
CA43726428 rs540173622	108	G>R		No	ClinGen TOPMed
CA346083898 rs540173622	108	G>W		No	ClinGen TOPMed
rs1380853143 CA346083894	109	G>R		No	ClinGen gnomAD
rs1558704900 RCV000731871 CA346083887	110	Q>E		No	ClinGen ClinVar Ensembl dbSNP
CA346083876 rs1573419738	111	K>R		No	ClinGen Ensembl
CA1556490 rs758151481	113	G>R		No	ClinGen ExAC TOPMed gnomAD
RCV000481109 rs1553423604	114	A>missing		No	ClinVar dbSNP
CA346083859 rs1473826810	114	A>D		No	ClinGen TOPMed
rs745593587 CA346083861	114	A>P		No	ClinGen ExAC gnomAD
CA1556489 rs745593587	114	A>S		No	ClinGen ExAC gnomAD
CA346083854 rs1170030002	115	P>S		No	ClinGen gnomAD
CA1556488 rs778834444	117	E>D		No	ClinGen ExAC gnomAD
CA346083835 rs1416269081	118	G>*		No	ClinGen gnomAD
rs757173108 CA1556487	118	G>A		No	ClinGen ExAC gnomAD
CA346083820 rs1482811916	120	G>D		No	ClinGen gnomAD
rs753412789 CA1556486	121	A>T		No	ClinGen ExAC gnomAD
CA346083807 rs1363297854	123	E>K		No	ClinGen TOPMed
CA346083799 rs1573419596	124	T>P		No	ClinGen Ensembl
CA43726357 rs1053272861	125	L>V		No	ClinGen gnomAD
rs1456372988 CA346083775	128	A>T		No	ClinGen gnomAD
CA1556485 rs777111690	128	A>V		No	ClinGen ExAC gnomAD
CA43726344 rs1008365985	129	S>L		No	ClinGen TOPMed gnomAD
CA346083765 rs1165199901	130	R>G		No	ClinGen TOPMed
CA346083742 rs1363529598	133	E>G		No	ClinGen TOPMed
rs1322950644 CA346083730	135	G>S		No	ClinGen gnomAD
rs1423789971 CA346083712	137	C>S		No	ClinGen TOPMed
CA346083703 rs1310158529	138	T>I		No	ClinGen TOPMed gnomAD
CA346083705 rs1310158529	138	T>N		No	ClinGen TOPMed gnomAD
rs1573419506 CA346083708	138	T>P		No	ClinGen Ensembl
CA346083687 rs1310435543	141	E>Q		No	ClinGen gnomAD
rs1449714685 CA346083675	142	G>D		No	ClinGen gnomAD
COSM461049 rs745432645 CA43726322	143	R>Q	cervix [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs759826795 CA1556481	145	A>T		No	ClinGen ExAC gnomAD
CA346083648 rs1210750462	147	A>E		No	ClinGen TOPMed gnomAD
CA1556480 rs751918466	149	A>T		No	ClinGen ExAC TOPMed gnomAD
CA346083295 rs1314431398	150	G>D		No	ClinGen TOPMed gnomAD
CA43726298 rs367552590	150	G>S		No	ClinGen ESP
CA43723156 rs1030411701	153	Q>L		No	ClinGen Ensembl
rs1388356560 CA346083268	154	K>E		No	ClinGen gnomAD
rs1558698653 CA346083258	155	E>G		No	ClinGen Ensembl
CA346083252 rs1341152011	156	T>A		No	ClinGen gnomAD
CA346083238 rs777573131	158	I>F		No	ClinGen ExAC TOPMed gnomAD
CA346083234 rs769716628	158	I>M		No	ClinGen ExAC TOPMed gnomAD
CA1556450 rs777573131	158	I>V		No	ClinGen ExAC TOPMed gnomAD
CA346083233 rs1274769751	159	E>K		No	ClinGen TOPMed
rs574046229 CA1556447	161	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1556446 rs574046229	161	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1556445 rs746638398	162	K>R		No	ClinGen ExAC gnomAD
rs1573404648 CA346083201	163	M>R		No	ClinGen Ensembl
rs779804580 CA1556444	163	M>V		No	ClinGen ExAC gnomAD
CA346083153 rs1203651882	169	R>W		No	ClinGen gnomAD
CA1556430 rs201159986	172	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA43722776 rs867059567	178	S>T		No	ClinGen Ensembl
rs1247178186 CA346083077	181	R>C		No	ClinGen gnomAD
CA346083062 rs1447483341	183	R>Q		No	ClinGen TOPMed gnomAD
rs1311728146 CA346083064	183	R>W		No	ClinGen gnomAD
rs1398311586 CA346083040	186	P>L		No	ClinGen TOPMed
CA346082988 rs1573403213	194	D>G		No	ClinGen Ensembl
CA43722760 rs55710413	199	S>N		No	ClinGen Ensembl
CA1556425 rs779859478	201	R>H		No	ClinGen ExAC TOPMed gnomAD
rs758108005 CA1556424	203	R>L		No	ClinGen ExAC
RCV000760611 rs1558697970 CA346082904	206	W>*		No	ClinGen ClinVar Ensembl dbSNP
rs779304626 CA1556422	208	A>G		No	ClinGen ExAC gnomAD
CA43722757 rs1021313909	208	A>T		No	ClinGen TOPMed
rs1256370526 CA346082874 COSM168321	209	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA43722750 rs80021709	211	K>E		No	ClinGen Ensembl
RCV000120654 rs587778238 CA158327	215	E>D		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs1374860380 CA346077045	218	A>V		No	ClinGen gnomAD
CA43707034 rs950156492	219	K>R		No	ClinGen TOPMed
rs754994143 CA1556332	221	I>T		No	ClinGen ExAC gnomAD
CA346076894 rs1219908429	226	A>T		No	ClinGen gnomAD
rs1369743573 CA346076869	227	V>L		No	ClinGen gnomAD
CA346076788 rs1449054396	230	N>K		No	ClinGen TOPMed
CA43707012 rs916077424	232	G>R		No	ClinGen gnomAD
rs751474744 CA1556330	233	P>A		No	ClinGen ExAC TOPMed
rs1553414444 RCV000485726	234	G>missing		No	ClinVar dbSNP
rs757912991 COSM183937 CA1556327	234	G>R	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC
CA346076691 rs1299779070	235	E>*		No	ClinGen gnomAD
CA346076693 rs1299779070	235	E>Q		No	ClinGen gnomAD
CA1556325 rs144134652	236	S>P		No	ClinGen ESP ExAC TOPMed
CA43707002 rs937728322	241	E>A		No	ClinGen Ensembl
rs761452501 CA1556324	241	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1176634485 CA346076548	242	A>T		No	ClinGen gnomAD
rs1553414416 CA1556317	244	P>H		No	ClinGen Ensembl
CA1556321 rs761056829	244	P>S		No	ClinGen ExAC TOPMed gnomAD
CA1556320 rs761056829	244	P>T		No	ClinGen ExAC TOPMed gnomAD
rs775861139 CA1556316	245	P>S		No	ClinGen ExAC TOPMed gnomAD
CA43706978 rs925079707	246	A>D		No	ClinGen Ensembl
rs1378389616 CA346076466	246	A>T		No	ClinGen TOPMed gnomAD
CA1556313 rs772648943	248	Q>*		No	ClinGen ExAC
rs759747476 CA1556311	249	Q>*		No	ClinGen ExAC gnomAD
CA1556310 rs139388008	251	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA346076350 rs1573343096	252	D>A		No	ClinGen Ensembl
rs1401538177 CA346076334	253	P>A		No	ClinGen Ensembl
CA1556306 rs778003885	254	A>E		No	ClinGen ExAC gnomAD
CA1556307 rs201097136	254	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1573343015 CA346076291	255	S>P		No	ClinGen Ensembl
CA1556302 rs746751589	257	T>N		No	ClinGen ExAC gnomAD
CA346076205 rs1573342922	258	V>G		No	ClinGen Ensembl
CA1556300 rs758322064	260	T>N		No	ClinGen ExAC gnomAD
rs750005872 CA1556299	261	T>M		No	ClinGen ExAC gnomAD
rs1483397095 COSM3839170 CA346076069 COSM3839169	265	V>M	breast [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1573342785 CA346076024	267	S>A		No	ClinGen Ensembl
CA158320 RCV000120653 rs587778237	268	D>N		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs1573342732 CA346075982	269	A>S		No	ClinGen Ensembl
rs965969920 CA43706852	270	G>A		No	ClinGen TOPMed
CA346075850 rs1425355032	274	A>V		No	ClinGen gnomAD
rs760086602 CA1556292	276	K>T		No	ClinGen ExAC gnomAD
CA346075797 rs1201586318	277	A>G		No	ClinGen TOPMed gnomAD
CA346075799 rs1201586318	277	A>V		No	ClinGen TOPMed gnomAD
rs34191084 CA43706829	278	G>S		No	ClinGen gnomAD
rs1203141216 CA346075768	279	D>N		No	ClinGen gnomAD
rs893934873 CA43706823	280	D>N		No	ClinGen TOPMed
rs773312511 CA1556288	281	E>*		No	ClinGen ExAC gnomAD
rs773312511 COSM271218 CA346075708 COSM271219	281	E>K	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA43706809 rs935292386	283	E>D		No	ClinGen TOPMed
CA346075627 rs1397757528	284	Y>C		No	ClinGen gnomAD
rs201882909 CA1556283	285	E>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1556284 rs201882909	285	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1437263581 CA346075489	286	D>N		No	ClinGen gnomAD
CA346075463 rs1224917720	287	G>S		No	ClinGen gnomAD
rs749572719 CA1556259	288	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs770884084 CA1556260	288	R>W		No	ClinGen ExAC gnomAD
CA43706550 rs975749469	289	G>D		No	ClinGen Ensembl
CA346075430 rs1357482230	289	G>S		No	ClinGen TOPMed
rs777306476 CA1556257	292	I>T		No	ClinGen ExAC TOPMed gnomAD
rs755769867 CA1556256	294	E>*		No	ClinGen ExAC gnomAD
CA346075337 rs755769867	294	E>K		No	ClinGen ExAC gnomAD
rs780953840 CA1556254	295	L>V		No	ClinGen ExAC gnomAD
rs1402705749 CA346075294	296	V>E		No	ClinGen gnomAD
CA346075291 rs1402705749	296	V>G		No	ClinGen gnomAD
CA1556253 rs755398725	296	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1442214131 CA346075272 COSM133740	297	W>*	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated Ensembl
CA1556252 rs751916447	297	W>G		No	ClinGen ExAC TOPMed gnomAD
CA43706533 rs944608317 COSM133740	297	W>*	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
CA346075284 rs751916447	297	W>R		No	ClinGen ExAC TOPMed gnomAD
CA346075252 rs1410828051	298	G>E		No	ClinGen gnomAD
rs797044904 CA346075263	298	G>R		No	ClinGen gnomAD
CA1556251 rs766858016	299	K>*		No	ClinGen ExAC
rs1180980391 CA346075201	300	L>R		No	ClinGen TOPMed
CA1556248 rs377670596	302	G>S		No	ClinGen ESP ExAC gnomAD
rs765341003 COSM1169636 CA1556247	305	W>*	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs761839006 COSM1169636 CA1556246	305	W>*	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
COSM249798 CA1556245 rs776841024	306	W>*	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA346075096 COSM249798 rs1465829182	306	W>*	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed
CA346075080 rs776841024	306	W>C		No	ClinGen ExAC TOPMed gnomAD
rs759380437 CA346075067	307	P>Q		No	ClinGen ExAC gnomAD
CA1556243 rs759380437 COSM221579	307	P>R	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA346075072 COSM1019241 COSM1019242 rs1558672650	307	P>S	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1553414043 CA1556241	309	R>P		No	ClinGen Ensembl
CA1556240 rs774128516	310	I>F		No	ClinGen ExAC gnomAD
rs774128516 CA346075017	310	I>L		No	ClinGen ExAC gnomAD
rs770813937 CA1556239	313	W>*		No	ClinGen ExAC gnomAD
rs1204478457 CA346074968	313	W>*		No	ClinGen gnomAD
rs772972939 COSM133735 CA1556237	314	W>*	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs749225216 CA1556238 COSM133735	314	W>*	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1306889467 CA346074847	318	R>Q		No	ClinGen TOPMed
CA346074813 rs1401003346	319	S>N		No	ClinGen gnomAD
rs747448117 CA1556233	326	R>C		No	ClinGen ExAC TOPMed gnomAD
rs758881009 CA1556230 COSM477214	326	R>H	kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA1556231 rs758881009	326	R>L		No	ClinGen ExAC TOPMed gnomAD
rs747448117 CA1556232	326	R>S		No	ClinGen ExAC TOPMed gnomAD
rs750966422 CA1556229	327	W>*		No	ClinGen ExAC gnomAD
CA346074661 rs1573340510	328	V>G		No	ClinGen Ensembl
CA43706391 rs75642700	329	M>R		No	ClinGen Ensembl
CA1556228 rs765593136	329	M>V		No	ClinGen ExAC gnomAD
CA346074609 rs1479473205 COSM249799	330	W>*	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
COSM249799 rs757340349 CA1556226	330	W>*	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs757340349 CA43706383	330	W>C		No	ClinGen ExAC TOPMed gnomAD
rs151221034 CA346074576	331	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA1556225 rs753896945	331	F>V		No	ClinGen ExAC
CA346074569 rs760854242	332	G>*		No	ClinGen ExAC gnomAD
COSM477212 CA1556220 rs751360082	332	G>E	kidney [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA346074528 rs148655749	333	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA43706351 rs868108352	334	G>D		No	ClinGen Ensembl
rs1024296111 CA43706357	334	G>S		No	ClinGen TOPMed gnomAD
CA346074462 rs773208295	337	S>*		No	ClinGen ExAC TOPMed gnomAD
CA1556218 rs773208295	337	S>*		No	ClinGen ExAC TOPMed gnomAD
CA1556217 rs773208295	337	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1221845015 CA346074340	339	V>G		No	ClinGen gnomAD
rs1573338694 CA346074333	340	C>G		No	ClinGen Ensembl
rs749817324 CA1556181	344	L>P		No	ClinGen ExAC TOPMed gnomAD
rs749817324 CA346074252	344	L>Q		No	ClinGen ExAC TOPMed gnomAD
rs749817324 CA43705952	344	L>R		No	ClinGen ExAC TOPMed gnomAD
CA346074246 rs1182735555	345	M>V		No	ClinGen TOPMed
CA346074217 rs1308281604	346	P>L		No	ClinGen gnomAD
CA346074206 rs1474463141	347	L>P		No	ClinGen TOPMed
rs1297885007 CA346074181	349	S>*		No	ClinGen gnomAD
rs781536894 CA1556177	351	C>Y		No	ClinGen ExAC
CA1556174 rs139053291 COSM133129	352	S>N	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
COSM1204297 CA346074096 rs1326972729 COSM1204296	353	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA346074072 rs1161125109	354	F>V		No	ClinGen gnomAD
RCV000522668 CA346074057 rs1553413753	355	H>Y		No	ClinGen ClinVar Ensembl dbSNP
rs764062059 CA1556170	356	Q>*		No	ClinGen ExAC TOPMed
rs1191462913 CA346073424	358	T>M		No	ClinGen gnomAD
CA346073414 rs1558671106	359	Y>*		No	ClinGen Ensembl
CA346073400 rs1220753680	361	K>R		No	ClinGen gnomAD
CA346073395 rs1490273086	362	Q>*		No	ClinGen gnomAD
CA1556168 rs774855118	364	M>T		No	ClinGen ExAC gnomAD
rs1315257786 CA346073373	365	Y>D		No	ClinGen TOPMed gnomAD
rs1315257786 CA346073374	365	Y>H		No	ClinGen TOPMed gnomAD
RCV001269839 CA1556167 rs767236033	366	R>H		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs767236033 CA346073365	366	R>L		No	ClinGen ExAC TOPMed gnomAD
CA346073355 rs1347653303	368	A>T		No	ClinGen gnomAD
CA1556166 rs759087082	368	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1558670978 CA346073350	369	I>F		No	ClinGen Ensembl
rs773941479 CA1556165	369	I>N		No	ClinGen ExAC TOPMed gnomAD
rs1290621612 CA346073334	371	E>*		No	ClinGen gnomAD
CA346073335 rs1290621612	371	E>K		No	ClinGen gnomAD
CA1556162 rs773722655	372	V>A		No	ClinGen ExAC gnomAD
CA346073326 rs773722655	372	V>D		No	ClinGen ExAC gnomAD
CA1556163 rs371677904	372	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs748329208 CA1556160	373	L>Q		No	ClinGen ExAC gnomAD
rs369109129 CA1556159	374	Q>*		No	ClinGen ESP ExAC gnomAD
CA346073299 rs1446942650	376	A>T		No	ClinGen gnomAD
rs1438415558 CA346073282	378	S>N		No	ClinGen gnomAD
CA346073281 rs1438415558	378	S>T		No	ClinGen gnomAD
rs754459010 RCV000500674 CA1556130	379	R>C		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA346073275 rs1036696061	379	R>H		No	ClinGen TOPMed gnomAD
CA43705593 rs1036696061	379	R>P		No	ClinGen TOPMed gnomAD
CA43705584 rs762563426	380	A>S		No	ClinGen ExAC TOPMed gnomAD
CA1556127 rs762563426 COSM1204298 COSM1204299	380	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
COSM1019237 CA1556126 COSM1019238 rs750837407	380	A>V	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA346073258 rs1239154786	382	K>N		No	ClinGen gnomAD
CA1556121 rs769153444	383	L>P		No	ClinGen ExAC gnomAD
CA1556120 rs760900251	384	F>Y		No	ClinGen ExAC gnomAD
CA1556119 rs775677376	385	P>L		No	ClinGen ExAC TOPMed gnomAD
CA346073245 rs1370377663	385	P>T		No	ClinGen gnomAD
rs1364266797 CA346073228	387	C>*		No	ClinGen gnomAD
CA346073218 rs1470594184	389	D>N		No	ClinGen gnomAD
CA1556114 rs779155323	391	D>N		No	ClinGen ExAC gnomAD
rs1472367159 CA346073193	392	E>*		No	ClinGen gnomAD
rs1416783098 CA346073189	392	E>D		No	ClinGen TOPMed
CA346073182 rs1269818023	393	S>N		No	ClinGen gnomAD
CA1556113 rs566743984	394	D>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1205641062 CA346073150	398	A>T		No	ClinGen gnomAD
rs1277241617 CA346073145	399	V>M		No	ClinGen gnomAD
rs751109858 CA1556109	400	E>*		No	ClinGen ExAC gnomAD
CA346073130 rs1345778838	401	V>E		No	ClinGen gnomAD
CA346073128 rs1345778838	401	V>G		No	ClinGen gnomAD
rs1390180352 CA346073124	402	Q>R		No	ClinGen TOPMed
CA1556107 rs757857998	404	K>E		No	ClinGen ExAC
rs1356500325 CA346073093	406	M>I		No	ClinGen TOPMed
rs750108934 CA1556104 COSM249801	407	I>T	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA1556102 rs1235571275	409	W>*		No	ClinGen TOPMed
rs1235571275 CA346073069	409	W>C		No	ClinGen TOPMed
rs764880874 CA1556101	410	A>T		No	ClinGen ExAC gnomAD
CA346073064 COSM574567 rs1401774585 COSM574568	410	A>V	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1456725200 CA346073049	413	G>D		No	ClinGen TOPMed gnomAD
CA346073047 rs1456725200	413	G>V		No	ClinGen TOPMed gnomAD
CA346073046 rs1195155939	414	F>I		No	ClinGen TOPMed
CA346073043 rs1258189576 COSM74416	414	F>S	ovary [Cosmic]	No	ClinGen cosmic curated TOPMed
CA1556098 rs754223052	415	Q>*		No	ClinGen ExAC gnomAD
CA346073034 rs1479371953	415	Q>L		No	ClinGen TOPMed gnomAD
CA1556094 rs776088359	423	E>Q		No	ClinGen ExAC gnomAD
rs1573335892 CA346072968	426	E>K		No	ClinGen Ensembl
rs753259596 CA1556075	427	E>G		No	ClinGen ExAC gnomAD
CA346072961 rs1558669897	427	E>K		No	ClinGen Ensembl
CA1556074 rs768077915	428	E>K		No	ClinGen ExAC gnomAD
rs1225213979 CA346072932	429	K>R		No	ClinGen TOPMed
CA346072910 rs1304601320	432	Y>C		No	ClinGen TOPMed
rs370379375 CA1556070	437	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA346072867 rs1558669435	438	D>G		No	ClinGen Ensembl
rs1004570713 CA43705152	439	M>I		No	ClinGen TOPMed gnomAD
CA1556068 rs763212887	439	M>T		No	ClinGen ExAC gnomAD
CA1556066 rs773260349 COSM1130818 COSM1130819	440	W>*	prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA43705127 rs866490834 COSM1130818 COSM1130819	440	W>*	prostate [Cosmic]	No	ClinGen cosmic curated gnomAD
CA346072844 rs1272902565	441	V>G		No	ClinGen gnomAD
rs1439976348 CA346072849	441	V>M		No	ClinGen gnomAD
rs1205125035 CA346072841	442	E>*		No	ClinGen gnomAD
rs537906726 CA1556065	442	E>D		No	ClinGen 1000Genomes ExAC
CA346072839 rs1360829913	442	E>G		No	ClinGen gnomAD
rs1205125035 CA346072842	442	E>Q		No	ClinGen gnomAD
CA1556064 rs746743616	443	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1481248882 CA346072829	444	E>*		No	ClinGen TOPMed
rs775424412 CA1556063	446	A>T		No	ClinGen ExAC gnomAD
CA346072800 rs137931376	448	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1368522288 CA346072791	450	P>S		No	ClinGen TOPMed gnomAD
CA1556057 rs777500092	453	P>L		No	ClinGen ExAC gnomAD
rs756559210 CA1556054	454	A>T		No	ClinGen ExAC gnomAD
CA346072746 rs1230719820	457	P>H		No	ClinGen gnomAD
rs1468255229 CA346072741	458	R>Q		No	ClinGen gnomAD
CA346072742 rs1420356837	458	R>W		No	ClinGen TOPMed
rs886041641 RCV000295479	459	K>missing		No	ClinVar dbSNP
CA1556050 rs768204905	459	K>*		No	ClinGen ExAC gnomAD
rs755480632 CA1556049	460	S>G		No	ClinGen ExAC TOPMed gnomAD
CA346072723 rs751640699	461	T>P		No	ClinGen ExAC gnomAD
CA1556048 rs751640699	461	T>S		No	ClinGen ExAC gnomAD
rs200845575 COSM1407114 COSM1407113 CA1556047	462	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1014178938 CA43704993 COSM1318923 COSM1318924	468	K>R	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs765389013 CA1556043	469	E>*		No	ClinGen ExAC gnomAD
rs1294698740 CA346072667	469	E>V		No	ClinGen TOPMed
CA346072656 rs1287896959	471	I>V		No	ClinGen gnomAD
CA346072647 rs1227182180	472	D>G		No	ClinGen TOPMed
rs775263815 CA1556041	474	R>C		No	ClinGen ExAC gnomAD
rs1457323351 CA346072630	474	R>H		No	ClinGen gnomAD
CA1556040 rs772041976	476	R>*		No	ClinGen ExAC TOPMed gnomAD
CA1556039 rs759536610	477	E>K		No	ClinGen ExAC gnomAD
COSM1407111 COSM1407112 rs1558668727 CA346072596	478	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
COSM87003 CA1556014 rs764944380	478	R>W	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA1556012 rs200099128	480	V>G		No	ClinGen ExAC gnomAD
rs145465364 CA346072581	481	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs145465364 RCV001093356	481	Y>*		No	ClinVar dbSNP
rs747825643 CA1556010	481	Y>C		No	ClinGen ExAC gnomAD
rs769619301 CA1556011	481	Y>D		No	ClinGen ExAC gnomAD
CA43704831 rs769619301	481	Y>H		No	ClinGen ExAC gnomAD
CA1556008 rs769071767	482	E>*		No	ClinGen ExAC gnomAD
rs1301835120 CA346072574	482	E>D		No	ClinGen gnomAD
rs747281687 CA346072568	483	V>A		No	ClinGen ExAC TOPMed gnomAD
rs747281687 CA1556007	483	V>G		No	ClinGen ExAC TOPMed gnomAD
rs780672407 CA1556006	484	R>Q		No	ClinGen ExAC TOPMed
rs1131691760 RCV000493919	485	Q>missing		No	ClinVar dbSNP
CA346072546 rs1171085558	487	C>R		No	ClinGen gnomAD
rs566390868 CA1556003	488	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1558668538 CA346072532	489	N>H		No	ClinGen Ensembl
rs757283738 CA1556002	490	I>T		No	ClinGen ExAC TOPMed gnomAD
rs567658171 CA346072496	492	D>E		No	ClinGen gnomAD
CA346072483 rs1240736156	494	C>S		No	ClinGen TOPMed
rs1224606813 CA346072480	494	C>W		No	ClinGen gnomAD
CA43704306 rs760376394	495	I>V		No	ClinGen Ensembl
rs779323387 CA43704297	497	C>F		No	ClinGen ExAC TOPMed gnomAD
rs779323387 CA1555985 COSM1318925 COSM1318926	497	C>Y	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA346072451 rs1350240829	499	S>N		No	ClinGen gnomAD
CA43704280 rs946346176	503	T>N		No	ClinGen TOPMed
rs373860660 COSM166530 CA1555982	505	E>*	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
rs1056677010 CA43704269	508	L>P		No	ClinGen Ensembl
rs751419033 CA1555980	510	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1472173158 CA346072376	511	G>E		No	ClinGen gnomAD
CA346072377 COSM1583070 rs1157218308	511	G>R	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1200958684 CA346072357	514	C>R		No	ClinGen gnomAD
rs1558667351 CA346072355	514	C>Y		No	ClinGen Ensembl
COSM1318927 rs1449820788 COSM1318928 CA346072350	515	Q>*	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
CA1555945 rs774696234	520	C>*		No	ClinGen ExAC gnomAD
CA346072255 rs763384327	526	Y>*		No	ClinGen ExAC gnomAD
CA346072252 rs1372858208	527	Q>*		No	ClinGen TOPMed
rs773701621 CA1555941	527	Q>P		No	ClinGen ExAC gnomAD
CA1555937 rs781611989	529	D>V		No	ClinGen ExAC TOPMed gnomAD
COSM1583077 rs745721709 CA346072224	531	D>N	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs745721709 CA1555935	531	D>Y		No	ClinGen ExAC gnomAD
rs1573328910 CA346072215	532	G>A		No	ClinGen Ensembl
rs757057121 CA1555932	533	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs757057121 CA346072207	533	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs1431340578 CA346072211	533	Y>N		No	ClinGen gnomAD
CA346072204 rs1167876410	534	Q>*		No	ClinGen TOPMed gnomAD
rs1203974940 CA346072200	534	Q>H		No	ClinGen TOPMed
RCV000304967 CA1555929 rs370376334	536	Y>*		No	ClinGen ClinVar ESP TOPMed dbSNP
rs1444551068 CA346072161	540	C>Y		No	ClinGen TOPMed
rs755631209 CA1555926	542	G>V		No	ClinGen ExAC gnomAD
COSM256033 rs767226511 CA43703730	543	G>A	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC
CA1555925 rs752222356 COSM87002	543	G>C	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs767226511 RCV000486870 CA16617515	543	G>D		No	ClinGen ClinVar ExAC dbSNP
COSM249135 CA1555924 rs767226511	543	G>V	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC
rs759176128 CA1555923	547	L>F		No	ClinGen ExAC TOPMed gnomAD
rs111848085 CA1555922 COSM231556	547	L>H	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA43703716 COSM1583072 rs111848085	547	L>P	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs111848085 CA346072119	547	L>R		No	ClinGen ExAC gnomAD
CA346072113 COSM231552 rs1403215240	548	M>I	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed
rs763336898 CA346072101	550	G>*		No	ClinGen ExAC TOPMed gnomAD
COSM256035 rs763336898 CA1555919	550	G>R	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA1555918 rs773613277	553	N>S		No	ClinGen ExAC gnomAD
CA1555917 rs770311493	556	R>G		No	ClinGen ExAC gnomAD
CA346072057 rs1162120698	556	R>K		No	ClinGen gnomAD
rs1162120698 CA346072056	556	R>T		No	ClinGen gnomAD
CA1555895 rs760791871	557	C>G		No	ClinGen ExAC
rs1573327460 CA346072037	557	C>W		No	ClinGen Ensembl
rs1313738991 CA346072023	559	C>F		No	ClinGen gnomAD
CA346072002 rs1218552501	562	C>F		No	ClinGen TOPMed gnomAD
rs1365345087 CA346072000	562	C>W		No	ClinGen gnomAD
CA346072004 rs1218552501 COSM249136	562	C>Y	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1299203502 COSM1583086 CA346071999	563	V>M	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA43703410 rs1040053651	565	L>P		No	ClinGen TOPMed
rs772310511 CA1555893	569	P>L		No	ClinGen ExAC gnomAD
CA43703403 rs902965419	573	Q>*		No	ClinGen gnomAD
CA346071929 rs1573327123	574	A>P		No	ClinGen Ensembl
rs1247716811 CA346071914	576	I>S		No	ClinGen gnomAD
rs1302320339 CA346071903	578	E>Q		No	ClinGen TOPMed
CA346071884 rs773048923	580	P>L		No	ClinGen ExAC gnomAD
CA1555887 rs773048923	580	P>R		No	ClinGen ExAC gnomAD
COSM1583079 rs1050697275 CA43703376	581	W>*	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
COSM1583079 CA1555885 rs769419803	581	W>*	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs769419803 COSM133127 CA346071878	581	W>C	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA346071881 COSM1583082 rs1342803588	581	W>G	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
RCV000483070 CA1555884 rs748082838 COSM249802	583	C>Y	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
rs781067795 CA1555883	584	Y>N		No	ClinGen ExAC gnomAD
rs746498722 CA346071841	586	C>*		No	ClinGen ExAC TOPMed gnomAD
rs754506713 CA1555881	586	C>Y		No	ClinGen ExAC gnomAD
rs1324043719 CA346071821	589	K>R		No	ClinGen TOPMed
rs779611021 CA346071810	591	T>A		No	ClinGen ExAC gnomAD
rs779611021 CA1555878	591	T>S		No	ClinGen ExAC gnomAD
CA346071800 COSM231573 rs758063797	592	Y>*	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
COSM231573 rs758063797 CA1555877	592	Y>*	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1188559240 CA346071802	592	Y>C		No	ClinGen gnomAD
CA1555876 rs755573228	593	G>R		No	ClinGen ExAC gnomAD
rs1483256801 CA346071786	595	L>P		No	ClinGen gnomAD
CA43703315 rs899717364	596	R>Q		No	ClinGen TOPMed gnomAD
rs757492795 CA1555874	597	R>W		No	ClinGen ExAC gnomAD
COSM133736 CA1555873 rs568207978	598	R>*	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA1555872 rs764679587	598	R>Q		No	ClinGen ExAC TOPMed
CA1555871 rs760881379	599	E>D		No	ClinGen ExAC gnomAD
CA1555870 rs775710195	600	D>N		No	ClinGen ExAC gnomAD
rs767692203 CA1555869	601	W>*		No	ClinGen ExAC gnomAD
rs941325374 CA43703281	601	W>*		No	ClinGen gnomAD
CA1555868 rs759818409	604	R>Q		No	ClinGen ExAC gnomAD
rs1368287759 CA346071739	604	R>W		No	ClinGen TOPMed gnomAD
CA1555866 rs774371295	605	L>P		No	ClinGen ExAC gnomAD
CA346071729 rs1396358001 COSM133722	606	Q>*	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA346071717 rs1163931006	607	M>I		No	ClinGen gnomAD
rs1558665027 CA346071722	607	M>V		No	ClinGen Ensembl
rs930025818 CA43703277	610	A>G		No	ClinGen TOPMed
CA1555864 rs747889684	613	H>D		No	ClinGen ExAC gnomAD
rs1573326353 COSM1583083 RCV000997083 CA346071670	614	D>N	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ClinVar Ensembl dbSNP
COSM1318929 COSM1318930 rs768548187 CA1555861	615	Q>*	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA1555859 rs779600073	616	E>*		No	ClinGen ExAC gnomAD
rs779600073 CA43703230	616	E>K		No	ClinGen ExAC gnomAD
RCV000599228 rs1553412022	623	Y>missing		No	ClinVar dbSNP
CA43703080 rs149876809	628	A>D		No	ClinGen 1000Genomes
CA346071542 rs1159270298	631	R>T		No	ClinGen TOPMed
rs1450721986 CA346071543	631	R>W		No	ClinGen gnomAD
CA346071535 rs1245875087	632	K>*		No	ClinGen gnomAD
CA346071524 rs1446825883	633	P>L		No	ClinGen gnomAD
rs1446825883 CA346071526	633	P>R		No	ClinGen gnomAD
rs1191994998 CA346071527	633	P>S		No	ClinGen gnomAD
CA346071519 rs1390273539	634	I>T		No	ClinGen TOPMed
CA346071522 rs1202489510	634	I>V		No	ClinGen gnomAD
rs751562376 CA43703041 COSM231550	635	R>P	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA1555829 rs751562376 COSM1583088	635	R>Q	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs929806900 CA1555826	636	V>G		No	ClinGen Ensembl
rs376550450 CA346071514	636	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs376550450 COSM133124 CA1555828	636	V>M	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs371523368 CA1555824	637	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs371523368 CA346071507	637	L>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1253868717 CA346071501	638	S>F		No	ClinGen TOPMed gnomAD
CA346071486 rs1331365627	641	D>N		No	ClinGen TOPMed
rs551213321 CA1555823	642	G>*		No	ClinGen 1000Genomes ExAC gnomAD
rs551213321 CA346071478	642	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1431156021 CA346071466	644	A>T		No	ClinGen gnomAD
CA346071455 rs1387749234	645	T>I		No	ClinGen gnomAD
CA346071454 rs1472933404	646	G>W		No	ClinGen gnomAD
CA346071434 rs781742148	647	L>H		No	ClinGen ExAC TOPMed gnomAD
rs781742148 CA346071435	647	L>P		No	ClinGen ExAC TOPMed gnomAD
CA1555812 rs781742148	647	L>R		No	ClinGen ExAC TOPMed gnomAD
CA346071423 rs1334392444	650	L>M		No	ClinGen gnomAD
CA346071421 rs1467909574	650	L>Q		No	ClinGen gnomAD
CA346071422 rs1334392444	650	L>V		No	ClinGen gnomAD
CA346071400 rs1202526721	653	L>*		No	ClinGen TOPMed
CA1555810 rs747168987	653	L>F		No	ClinGen ExAC gnomAD
CA346071401 rs1461998130	653	L>V		No	ClinGen TOPMed
rs1297531346 CA346071392	654	G>D		No	ClinGen gnomAD
rs1371093470 CA346071396	654	G>S		No	ClinGen gnomAD
CA1555809 COSM133136 rs780120142	655	I>N	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs758402405 CA1555808	656	Q>*		No	ClinGen ExAC gnomAD
CA346071382 rs1323531460	656	Q>P		No	ClinGen gnomAD
CA1555807 rs368961181	657	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs146164726 CA1555806	658	D>V		No	ClinGen ESP ExAC gnomAD
rs755982635 CA1555805	659	R>C		No	ClinGen ExAC gnomAD
rs755982635 CA346071365	659	R>G		No	ClinGen ExAC gnomAD
COSM1019236 CA1555804 COSM1019235 rs752434188	659	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1158856353 CA531369201	660	Y>*		No	ClinGen TOPMed gnomAD
CA1555803 rs767552800 COSM256036	660	Y>C	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1471917721 CA346071350	661	I>T		No	ClinGen gnomAD
CA346071347 rs759408234	662	A>P		No	ClinGen ExAC gnomAD
rs759408234 CA1555802	662	A>T		No	ClinGen ExAC gnomAD
CA1555801 rs553080210 COSM1583141	663	S>L	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA346071335 rs1476901854	664	E>*		No	ClinGen TOPMed
rs762503226 CA346071327	665	V>E		No	ClinGen ExAC TOPMed gnomAD
COSM231559 rs762503226 CA1555799	665	V>G	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA1555800 rs766020170	665	V>L		No	ClinGen ExAC gnomAD
rs1467575781 CA767174554	666	C>*		No	ClinGen TOPMed
RCV001311187 rs1674047402	671	T>M		No	ClinVar dbSNP
CA43701682 rs902730598	673	G>D		No	ClinGen TOPMed
CA346071270 rs1306265898	674	M>V		No	ClinGen gnomAD
CA346071258 rs1558661472	675	V>G		No	ClinGen Ensembl
rs1025238838 CA43701681	675	V>M		No	ClinGen TOPMed gnomAD
rs769539104 CA1555794	676	R>L		No	ClinGen ExAC gnomAD
CA1555795 rs769539104	676	R>Q		No	ClinGen ExAC gnomAD
COSM328646 rs375399431 CA43701677	676	R>W	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP TOPMed gnomAD
CA1555793 rs748613291	677	H>Y		No	ClinGen ExAC
CA43701651 COSM133738 rs1050271318	678	Q>*	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated Ensembl
rs747472028 CA1555790	681	I>M		No	ClinGen ExAC TOPMed
rs769006337 CA1555791	681	I>N		No	ClinGen ExAC gnomAD
rs1324879320 CA346071219	682	M>R		No	ClinGen TOPMed
rs780495518 CA1555789	683	Y>C		No	ClinGen ExAC
rs1415568675 CA346071204	684	V>A		No	ClinGen gnomAD
CA1555788 rs758490363	684	V>I		No	ClinGen ExAC TOPMed gnomAD
rs754037033 CA1555785	685	G>A		No	ClinGen ExAC gnomAD
rs754037033 CA1555784 COSM1690276 COSM1690275	685	G>E	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA1555787 rs779176507 COSM1235164 COSM1235163	685	G>R	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs779176507 CA1555786	685	G>W		No	ClinGen ExAC TOPMed gnomAD
rs754764419 COSM249133 CA346071196	686	D>G	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs754764419 CA1555782	686	D>V		No	ClinGen ExAC TOPMed gnomAD
rs767224028 COSM1583095 CA1555783	686	D>Y	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1183198167 CA346071193	687	V>I		No	ClinGen gnomAD
rs1484795800 CA346071185	688	R>C		No	ClinGen TOPMed gnomAD
rs1484795800 CA346071186	688	R>G		No	ClinGen TOPMed gnomAD
CA1555781 rs369713081	688	R>H		No	ClinGen ESP ExAC gnomAD
rs768899154 CA43701581	690	V>I		No	ClinGen Ensembl
rs1193025338 CA346071164	691	T>I		No	ClinGen TOPMed
rs1278018793 CA346071161	692	Q>*		No	ClinGen gnomAD
CA346071153 COSM3708348 rs1365278000 COSM3708347	693	K>*	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
CA346071145 rs1573316391	694	H>Y		No	ClinGen Ensembl
rs751368966 CA1555762	695	I>F		No	ClinGen ExAC gnomAD
rs780206885 CA1555761	695	I>N		No	ClinGen ExAC gnomAD
rs780206885 CA346070848	695	I>T		No	ClinGen ExAC gnomAD
CA1555758 rs764656024	696	Q>P		No	ClinGen ExAC
rs761343150 CA1555756	697	E>*		No	ClinGen ExAC
rs753452266 CA1555755	698	W>*		No	ClinGen ExAC gnomAD
CA43699258 rs1005359774	698	W>*		No	ClinGen gnomAD
rs761064473 CA43699229	699	G>A		No	ClinGen ExAC TOPMed gnomAD
COSM99741 rs761064473 VAR_067234 CA1555753	699	G>D	a patient with chronic myelomonocytic leukemia haematopoietic_and_lymphoid_tissue [UniProt, Cosmic]	No	ClinGen cosmic curated UniProt ExAC TOPMed dbSNP gnomAD
COSM130430 CA1555754 rs763776241	699	G>S	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs775823075 CA346070781	700	P>A		No	ClinGen ExAC TOPMed gnomAD
rs775823075 CA1555751	700	P>S		No	ClinGen ExAC TOPMed gnomAD
rs775823075 CA346070783	700	P>T		No	ClinGen ExAC TOPMed gnomAD
CA1555748 rs760042734	701	F>V		No	ClinGen ExAC gnomAD
CA346070751 rs1400330086	702	D>G		No	ClinGen Ensembl
CA1555746 rs770938712	702	D>N		No	ClinGen ExAC gnomAD
CA346070753 rs1400330086	702	D>V		No	ClinGen Ensembl
CA346070755 rs770938712	702	D>Y		No	ClinGen ExAC gnomAD
CA346070726 rs1165074698	704	V>A		No	ClinGen TOPMed
CA346070719 rs1291851173 COSM133720	705	I>F	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
rs777037011 CA346070713	705	I>S		No	ClinGen TOPMed gnomAD
CA43699187 rs777037011 COSM1583102 COSM3719702	705	I>T	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA1555743 rs777898555	706	G>E		No	ClinGen ExAC gnomAD
CA1555744 rs749365376	706	G>W		No	ClinGen ExAC gnomAD
CA43699168 rs927337009	707	G>D		No	ClinGen gnomAD
CA1555740 COSM1583100 COSM249803 rs746857175	710	C>S	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
COSM1583100 COSM249803 rs1444323322 CA346070647	710	C>S	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed
CA346070623 rs1573313514	712	D>A		No	ClinGen Ensembl
rs780006700 CA1555739	713	L>F		No	ClinGen ExAC gnomAD
COSM1583097 rs778857953 CA1555735	716	V>D	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA346070599 rs1418039680	716	V>F		No	ClinGen TOPMed gnomAD
rs1418039680 CA346070601 COSM249137 RCV001254801	716	V>I	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD
CA346070592 rs1573313374	717	N>T		No	ClinGen Ensembl
COSM1407104 COSM1407105 rs1197133406 CA346070563	720	R>C	large_intestine haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed
CA346070560 rs1272076221	720	R>L		No	ClinGen gnomAD
RCV001008212 rs1573313314	721	K>missing		No	ClinVar dbSNP
rs559412770 CA43699102	724	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM231566 rs1330225644 COSM1531540 CA346070501	724	Y>C	lung haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1443190506 CA346070492	725	E>Q		No	ClinGen TOPMed
rs1432383727 CA346070411	726	G>V		No	ClinGen gnomAD
rs200018028 CA1555719	729	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1318939 rs757211277 COSM1318938 CA1555717	729	R>Q	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
COSM1318937 rs200018028 COSM249142 CA1555718	729	R>W	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA1555716 rs749126333	730	L>P		No	ClinGen ExAC
CA1555714 COSM133132 rs755585212	731	F>C	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA1555715 COSM133734 rs143019657	731	F>L	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
COSM3720363 CA346070368 COSM3720362 rs143019657	731	F>V	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs767134940 CA1555711	732	F>C		No	ClinGen ExAC
rs149043640 CA1555712	732	F>I		No	ClinGen ESP ExAC
rs755376933 CA1555707	733	E>G		No	ClinGen ExAC gnomAD
rs1215180755 CA346070314	734	F>C		No	ClinGen TOPMed gnomAD
COSM1169640 CA1555705 rs766854284	734	F>L	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC
rs1215180755 CA346070311	734	F>S		No	ClinGen TOPMed gnomAD
CA1555706 rs751950768	734	F>V		No	ClinGen ExAC TOPMed gnomAD
CA1555702 rs765439043	735	Y>*		No	ClinGen ExAC
CA1555703 COSM133126 rs147828672	735	Y>C	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs147828672 CA1555704	735	Y>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs761934754 CA1555701 COSM231560	736	R>C	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA346070252 rs761934754	736	R>G		No	ClinGen ExAC TOPMed gnomAD
CA1555700 COSM133737 COSM1318940 rs139293773	736	R>H	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA346070256 rs761934754	736	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1340822377 COSM74415 CA346070232	737	L>F	ovary [Cosmic]	No	ClinGen cosmic curated gnomAD
rs768964533 CA1555699 COSM87008	737	L>R	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1340822377 CA346070234	737	L>V		No	ClinGen gnomAD
rs745714537 CA1555698	738	L>Q		No	ClinGen ExAC TOPMed gnomAD
rs745714537 CA16604097 RCV000422670	738	L>R		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA346070216 rs1374722278	738	L>V		No	ClinGen gnomAD
CA43698801 rs1053660507	739	H>P		No	ClinGen gnomAD
CA1555696 rs770568549	741	A>E		No	ClinGen ExAC TOPMed gnomAD
COSM166528 CA1555697 COSM3783426 rs770568549	741	A>V	prostate haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA1555695 rs749282210	742	R>P		No	ClinGen ExAC gnomAD
CA346070112 rs1433353413	743	P>A		No	ClinGen TOPMed gnomAD
rs755673156 CA1555692	743	P>L		No	ClinGen ExAC gnomAD
rs755673156 CA1555691	743	P>R		No	ClinGen ExAC gnomAD
rs1433353413 CA346070117	743	P>S		No	ClinGen TOPMed gnomAD
CA346070101 rs1389075270	744	K>*		No	ClinGen TOPMed
CA346070076 rs1328524162	745	E>*		No	ClinGen gnomAD
CA1555690 rs747626849	746	G>R		No	ClinGen ExAC
CA1555689 rs754613602	749	R>G		No	ClinGen ExAC TOPMed gnomAD
rs34843713 CA1555687	749	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs34843713 CA1555686	749	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs34843713 CA43698736	749	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA1555683 rs765813304	751	F>C		No	ClinGen ExAC TOPMed gnomAD
rs750962348 CA1555684	751	F>I		No	ClinGen ExAC
CA1555682 rs762020470	751	F>L		No	ClinGen ExAC gnomAD
CA346069953 rs765813304	751	F>S		No	ClinGen ExAC TOPMed gnomAD
CA1555680 rs764464925 COSM1583139	752	F>C	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA1555681 rs776844126	752	F>I		No	ClinGen ExAC TOPMed
rs776844126 COSM133131 CA346069943	752	F>L	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed
rs760959622 COSM133131 CA1555679	752	F>L	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA43698705 rs764464925	752	F>S		No	ClinGen ExAC gnomAD
rs776844126 CA43698713 COSM1731191 COSM1731192	752	F>V	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed
rs770785915 CA1555675	753	W>C		No	ClinGen ExAC gnomAD
CA346069911 rs775537912	753	W>L		No	ClinGen ExAC TOPMed
rs1189107128 CA346069921	753	W>R		No	ClinGen Ensembl
rs775537912 CA1555677	753	W>S		No	ClinGen ExAC TOPMed
COSM133128 rs762636955 CA1555674	754	L>R	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs536841393 CA43698655	755	F>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA43698672 rs369230209	755	F>I		No	ClinGen ESP
rs536841393 CA1555672	755	F>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1555669 rs769718039	756	E>D		No	ClinGen ExAC gnomAD
rs1418213272 CA346069871	756	E>K		No	ClinGen TOPMed
CA1555668 rs747716263	757	N>I		No	ClinGen ExAC
rs963262801 CA43698623	761	M>T		No	ClinGen Ensembl
rs780695582 CA1555666	761	M>V		No	ClinGen ExAC gnomAD
CA346069788 rs1167559489	762	G>S		No	ClinGen gnomAD
CA1555665 rs758689399	763	V>*		No	ClinGen ExAC gnomAD
CA346069759 rs1178258952	763	V>D		No	ClinGen gnomAD
rs1369746569 CA346069773	763	V>I		No	ClinGen TOPMed
rs1181120114 CA346069679	768	D>G		No	ClinGen gnomAD
CA43698617 rs767983115	768	D>H		No	ClinGen ExAC gnomAD
CA1555663 rs767983115	768	D>Y		No	ClinGen ExAC gnomAD
CA346069663 rs746704362	769	I>N		No	ClinGen ExAC TOPMed gnomAD
CA43698607 rs746704362	769	I>S		No	ClinGen ExAC TOPMed gnomAD
CA1555662 rs746704362	769	I>T		No	ClinGen ExAC TOPMed gnomAD
COSM1583106 rs758845779 CA1555661	770	S>*	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
COSM231549 rs758845779 CA1555660 COSM3719403	770	S>L	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA346069654 rs1275276226 COSM1407102 COSM1407103	770	S>P	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
COSM87010 CA43698606 rs758845779	770	S>W	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
COSM1583107 rs754336556 CA1555656	773	L>I	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs764303486 COSM1583109 CA1555655	773	L>R	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA346069603 rs753017271	774	E>D		No	ClinGen ExAC TOPMed gnomAD
CA346069604 rs753017271	774	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1558658551 CA346069607	774	E>G		No	ClinGen Ensembl
rs760624806 CA1555652	774	E>K		No	ClinGen ExAC gnomAD
CA1555624 rs74708853	775	S>P		No	ClinGen 1000Genomes ExAC gnomAD
rs752626029 CA346069578	777	P>H		No	ClinGen ExAC TOPMed gnomAD
CA43698112 rs752626029	777	P>L		No	ClinGen ExAC TOPMed gnomAD
CA1555623 rs752626029	777	P>R		No	ClinGen ExAC TOPMed gnomAD
CA346069581 rs1172777420	777	P>S		No	ClinGen TOPMed gnomAD
rs1172777420 CA346069580	777	P>T		No	ClinGen TOPMed gnomAD
CA346069560 rs370751539	780	I>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA1555620 rs370751539	780	I>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs370751539 CA1555619 COSM1583121	780	I>T	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA346069558 rs1305828292	781	D>N		No	ClinGen gnomAD
rs962973415 CA43698088	786	S>*		No	ClinGen Ensembl
CA1555615 rs375845138	787	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA346069513 rs1202038704	787	A>V		No	ClinGen gnomAD
rs1306505469 CA346069511	788	A>P		No	ClinGen gnomAD
CA346069507 rs1277979168	788	A>V		No	ClinGen gnomAD
rs1005623505 CA43698066	791	A>T		No	ClinGen TOPMed
CA1555612 COSM720762 COSM720761 rs774100557	792	R>H	lung haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed
rs1418024882 CA346069474	793	Y>*		No	ClinGen TOPMed
CA346069479 rs1247759759	793	Y>D		No	ClinGen TOPMed
rs771474959 CA346069472	794	F>L		No	ClinGen ExAC TOPMed
CA346069470 rs1419173604	794	F>S		No	ClinGen TOPMed
rs771474959 CA1555611	794	F>V		No	ClinGen ExAC TOPMed
CA1555607 rs756566100	795	W>*		No	ClinGen ExAC TOPMed gnomAD
CA346069463 rs1395575712	795	W>*		No	ClinGen gnomAD
rs778414705 CA346069466	795	W>G		No	ClinGen ExAC gnomAD
rs756566100 CA346069464	795	W>L		No	ClinGen ExAC TOPMed gnomAD
rs778414705 CA1555609	795	W>R		No	ClinGen ExAC gnomAD
CA1555608 rs778414705	795	W>R		No	ClinGen ExAC gnomAD
rs756566100 CA346069465	795	W>S		No	ClinGen ExAC TOPMed gnomAD
rs781138077 CA1555606	796	G>D		No	ClinGen ExAC gnomAD
rs1558657125 CA346069459	796	G>R		No	ClinGen Ensembl
rs781138077 CA1555605	796	G>V		No	ClinGen ExAC gnomAD
CA346069456 rs755013083	797	N>D		No	ClinGen ExAC gnomAD
rs755013083 CA1555604	797	N>H		No	ClinGen ExAC gnomAD
rs767588813 CA1555603	797	N>S		No	ClinGen ExAC
rs1399762821 CA346069446	798	L>P		No	ClinGen gnomAD
CA346069444 rs766564570	799	P>A		No	ClinGen ExAC TOPMed gnomAD
CA346069441 rs1004794515	799	P>L		No	ClinGen gnomAD
COSM256034 CA43698030 rs1004794515	799	P>R	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
rs766564570 CA1555601	799	P>S		No	ClinGen ExAC TOPMed gnomAD
rs766564570 CA346069443	799	P>T		No	ClinGen ExAC TOPMed gnomAD
CA1555600 rs757083492	800	G>S		No	ClinGen ExAC gnomAD
rs1558656994 CA346069430	801	M>I		No	ClinGen Ensembl
CA43698015 rs901395842	801	M>R		No	ClinGen TOPMed
CA1555599 rs753567076	801	M>V		No	ClinGen ExAC gnomAD
CA346069426 rs1252070916	802	N>Y		No	ClinGen gnomAD
CA1555598 rs764146514	803	R>K		No	ClinGen ExAC TOPMed gnomAD
COSM1318943 CA346069032 rs1304201075	803	R>S	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs750597155 CA1555581	804	P>L		No	ClinGen ExAC TOPMed gnomAD
CA43696979 rs879540431	809	V>M		No	ClinGen Ensembl
rs1174921909 CA346068965	814	E>*		No	ClinGen gnomAD
CA1555576 COSM99739 rs759187608	816	Q>*	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs373873045 CA1555575	817	E>*		No	ClinGen ESP ExAC gnomAD
CA346068925 rs1264543822	820	E>*		No	ClinGen gnomAD
rs146358501 CA1555573	821	H>D		No	ClinGen ESP ExAC gnomAD
CA1555572 rs772882388	821	H>P		No	ClinGen ExAC gnomAD
CA346068913 rs1558654529	822	G>S		No	ClinGen Ensembl
RCV001009039 rs1200243711	824	I>missing		No	ClinVar dbSNP
CA346068899 rs1558654497	824	I>V		No	ClinGen Ensembl
rs1558654479 CA346068885	826	K>*		No	ClinGen Ensembl
CA1555571 COSM1583124 rs770079872	826	K>R	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA346068883 rs770079872	826	K>T		No	ClinGen ExAC TOPMed gnomAD
rs867632277 CA43696542	828	S>I		No	ClinGen Ensembl
CA346068857 rs1182543816	828	S>R		No	ClinGen TOPMed gnomAD
rs1439783819 COSM221578 CA346068854	829	K>*	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
COSM1318947 CA346068853 rs1558653311 COSM1318948	829	K>R	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1573297136 CA346068830	832	T>I		No	ClinGen Ensembl
CA1555545 rs745931882	833	I>V		No	ClinGen ExAC gnomAD
rs1226571253 CA346068815	835	T>A		No	ClinGen gnomAD
CA346068811 rs1489843853 COSM1583146	835	T>M	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed
CA346068799 COSM133731 rs1374267987	837	S>*	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
rs994825529 CA43696522	840	I>K		No	ClinGen TOPMed
CA346068779 rs1167486470	840	I>M		No	ClinGen gnomAD
CA346068777 rs1404111595	841	K>E		No	ClinGen gnomAD
CA43696519 rs1015295548	842	Q>*		No	ClinGen Ensembl
rs749417012 CA1555541	843	G>S		No	ClinGen ExAC gnomAD
rs754780499 CA1555537	850	V>G		No	ClinGen ExAC gnomAD
rs746967478 CA1555535	852	M>V		No	ClinGen ExAC TOPMed
CA346068479 rs1175622747	859	L>*		No	ClinGen TOPMed gnomAD
CA1555529 rs376830288	860	W>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1321116253 CA346068467	860	W>*		No	ClinGen gnomAD
CA346068461 rs376830288	860	W>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA1555530 COSM231568 rs373014701	860	W>R	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA346068429 rs1558652929	862	T>I		No	ClinGen Ensembl
CA346068387 rs1225016984	865	E>K		No	ClinGen gnomAD
rs1187041748 CA346068381	865	E>V		No	ClinGen gnomAD
rs1350822027 CA346068375	866	R>G		No	ClinGen gnomAD
CA346068267 rs1239050589	868	F>L		No	ClinGen TOPMed
COSM249132 rs1558651358 CA346068266	869	G>S	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated Ensembl
COSM1583132 rs1419990763 CA346068247	871	P>L	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
CA346068238 rs1280811819	873	H>R		No	ClinGen TOPMed
rs773610723 CA1555496	873	H>Y		No	ClinGen ExAC
rs770134132 CA346068227	874	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA43695979 rs992291948	876	D>N		No	ClinGen TOPMed
CA346068215 rs1553408402	876	D>V		No	ClinGen Ensembl
rs1188120438 CA346068199 COSM1583135	879	N>D	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
COSM3798872 CA346068187 COSM3798871 rs1573292010	880	M>I	urinary_tract [Cosmic]	No	ClinGen cosmic curated Ensembl
rs775365749 COSM120499 CA1555492	880	M>V	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA346068174 rs1307673132	883	L>*		No	ClinGen gnomAD
COSM231547 CA1555487 rs559023562	884	A>V	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC
rs1573291900 RCV001008921	886	Q>missing		No	ClinVar dbSNP
CA1555484 rs752280049	886	Q>*		No	ClinGen ExAC gnomAD
rs752280049 COSM1583128 CA346068156	886	Q>E	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
COSM256042 COSM1482984 rs752160822 CA1555481	890	G>D	haematopoietic_and_lymphoid_tissue breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA346068126 rs1389510486	891	R>Q		No	ClinGen TOPMed
rs1355266109 CA346068120	892	S>L		No	ClinGen gnomAD
rs1330526945 CA346068112	893	W>*		No	ClinGen TOPMed
CA1555476 rs750515748	893	W>*		No	ClinGen ExAC gnomAD
rs762126968 CA1555474 COSM335620 COSM335621	895	V>M	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA43695916 rs865840418	896	P>S		No	ClinGen Ensembl
rs960019580 CA43695906	898	I>N		No	ClinGen Ensembl
CA1555472 rs771922296	899	R>C		No	ClinGen ExAC gnomAD
CA346068076 rs1480791034	899	R>P		No	ClinGen gnomAD
CA1555469 rs774384800	901	L>P		No	ClinGen ExAC gnomAD
CA346068062 rs774384800	901	L>R		No	ClinGen ExAC gnomAD
rs1360815999 CA346068065	901	L>V		No	ClinGen TOPMed
CA1555467 rs749167103	903	A>T		No	ClinGen ExAC TOPMed
rs149095705 CA1555465	904	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149095705 CA1555466	904	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs751868166 CA346068044	905	L>P		No	ClinGen ExAC gnomAD
rs751868166 CA1555461	905	L>Q		No	ClinGen ExAC gnomAD
rs751868166 CA1555462	905	L>R		No	ClinGen ExAC gnomAD
CA346068043 rs1240890824	906	K>E		No	ClinGen gnomAD
CA1555459 rs1553408222	907	E>K		No	ClinGen Ensembl
CA1555457 rs780666472	908	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1254967511 CA346068021	909	F>I		No	ClinGen Ensembl
RCV001280739 rs1673065619	909	F>S		No	ClinVar dbSNP
COSM1019226 rs1459396018 CA346068008 COSM133138	910	A>V	large_intestine endometrium haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
rs906113912 CA16044437	911	C>Y		No	ClinGen Ensembl

3 associated diseases with Q9Y6K1

[MIM: 615879]: Tatton-Brown-Rahman syndrome (TBRS)

An overgrowth syndrome characterized by a distinctive facial appearance, tall stature and intellectual disability. Facial gestalt is characterized by a round face, heavy horizontal eyebrows and narrow palpebral fissures. Less common features include atrial septal defects, seizures, umbilical hernia, and scoliosis. {ECO:0000269|PubMed:24614070, ECO:0000269|PubMed:27317772, ECO:0000269|PubMed:27701732, ECO:0000269|PubMed:27991732, ECO:0000269|PubMed:28432085, ECO:0000269|PubMed:28941052}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 601626]: Leukemia, acute myelogenous (AML)

A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes. {ECO:0000269|PubMed:21067377}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 618724]: Heyn-Sproul-Jackson syndrome (HESJAS)

An autosomal dominant form of microcephalic dwarfism. Affected individuals have intrauterine growth retardation, postnatal growth restrictions, proportionate short stature, microcephaly, severe developmental delay and impaired intellectual development. More variable features include sparse hair, short broad metacarpals and phalanges, and mild recurrent infections. {ECO:0000269|PubMed:30478443}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An overgrowth syndrome characterized by a distinctive facial appearance, tall stature and intellectual disability. Facial gestalt is characterized by a round face, heavy horizontal eyebrows and narrow palpebral fissures. Less common features include atrial septal defects, seizures, umbilical hernia, and scoliosis. {ECO:0000269|PubMed:24614070, ECO:0000269|PubMed:27317772, ECO:0000269|PubMed:27701732, ECO:0000269|PubMed:27991732, ECO:0000269|PubMed:28432085, ECO:0000269|PubMed:28941052}. Note=The disease is caused by variants affecting the gene represented in this entry.
A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes. {ECO:0000269|PubMed:21067377}. Note=The disease is caused by variants affecting the gene represented in this entry.
An autosomal dominant form of microcephalic dwarfism. Affected individuals have intrauterine growth retardation, postnatal growth restrictions, proportionate short stature, microcephaly, severe developmental delay and impaired intellectual development. More variable features include sparse hair, short broad metacarpals and phalanges, and mild recurrent infections. {ECO:0000269|PubMed:30478443}. Note=The disease is caused by variants affecting the gene represented in this entry.

5 regional properties for Q9Y6K1

Type	Name	Position	InterPro Accession
domain	PWWP domain	290 - 374	IPR000313
active_site	DNA methylase, C-5 cytosine-specific, active site	702 - 714	IPR018117
domain	ADD domain	482 - 614	IPR025766
domain	DNMT3, cysteine rich ADD domain	475 - 530	IPR040552
domain	DNA (cytosine-5)-methyltransferase 3A, ADD domain	487 - 614	IPR044108

Functions

		Description
EC Number	2.1.1.37	Methyltransferases
Subcellular Localization	Nucleus Chromosome Cytoplasm	Accumulates in the major satellite repeats at pericentric heterochromatin
PANTHER Family	PTHR23068	DNA CYTOSINE-5- -METHYLTRANSFERASE 3-RELATED
PANTHER Subfamily	PTHR23068:SF10	DNA (CYTOSINE-5)-METHYLTRANSFERASE 3A
PANTHER Protein Class	DNA methyltransferase
PANTHER Pathway Category	No pathway information available

9 GO annotations of cellular component

Name	Definition
catalytic complex	A protein complex which is capable of catalytic activity.
chromosome, centromeric region	The region of a chromosome that includes the centromeric DNA and associated proteins. In monocentric chromosomes, this region corresponds to a single area of the chromosome, whereas in holocentric chromosomes, it is evenly distributed along the chromosome.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
euchromatin	A dispersed and relatively uncompacted form of chromatin that is in a transcription-competent conformation.
heterochromatin	A compact and highly condensed form of chromatin that is refractory to transcription.
nuclear matrix	The dense fibrillar network lying on the inner side of the nuclear membrane.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
XY body	A structure found in a male mammalian spermatocyte containing an unpaired X chromosome that has become densely heterochromatic, silenced and localized at the nuclear periphery.

9 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.
DNA (cytosine-5-)-methyltransferase activity	Catalysis of the reaction: S-adenosyl-L-methionine + DNA containing cytosine = S-adenosyl-L-homocysteine + DNA containing 5-methylcytosine.
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
identical protein binding	Binding to an identical protein or proteins.
metal ion binding	Binding to a metal ion.
protein-cysteine methyltransferase activity	Catalysis of the reaction: L-cysteinyl- + S-adenosyl-L-methionine = H(+) + S-adenosyl-L-homocysteine + S-methyl-L-cysteinyl-
RNA polymerase II cis-regulatory region sequence-specific DNA binding	Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II.
RNA polymerase II-specific DNA-binding transcription factor binding	Binding to a sequence-specific DNA binding RNA polymerase II transcription factor, any of the factors that interact selectively and non-covalently with a specific DNA sequence in order to modulate transcription.
transcription corepressor activity	A transcription coregulator activity that represses or decreases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Corepressors often act by altering chromatin structure and modifications. For example, one class of transcription corepressors modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators.

24 GO annotations of biological process

Name	Definition
aging	A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death and may succeed developmental maturation (GO:0021700).
C-5 methylation of cytosine	The covalent transfer of a methyl group to C-5 of cytosine in a DNA molecule.
cellular response to amino acid stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an amino acid stimulus. An amino acid is a carboxylic acids containing one or more amino groups.
cellular response to bisphenol A	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 bisphenol A stimulus.
cellular response to ethanol	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ethanol stimulus.
cellular response to hypoxia	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 lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level.
DNA methylation	The covalent transfer of a methyl group to either N-6 of adenine or C-5 or N-4 of cytosine.
DNA methylation involved in embryo development	The covalent transfer of a methyl group to C-5 of cytosine that contributes to the epigenetic regulation of embryonic gene expression.
DNA methylation involved in gamete generation	The covalent transfer of a methyl group to C-5 of cytosine that contributes to the establishment of DNA methylation patterns in the gamete.
DNA methylation-dependent heterochromatin assembly	Repression of transcription by methylation of DNA, leading to the formation of heterochromatin.
hepatocyte apoptotic process	Any apoptotic process in a hepatocyte, the main structural component of the liver.
mitotic cell cycle	Progression through the phases of the mitotic cell cycle, the most common eukaryotic cell cycle, which canonically comprises four successive phases called G1, S, G2, and M and includes replication of the genome and the subsequent segregation of chromosomes into daughter cells. In some variant cell cycles nuclear replication or nuclear division may not be followed by cell division, or G1 and G2 phases may be absent.
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 differentiation	The process in which a relatively unspecialized cell acquires specialized features of a neuron.
positive regulation of cell death	Any process that increases the rate or frequency of cell death. Cell death is the specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death.
regulation of gene expression by genetic imprinting	An epigenetic mechanism of regulation of gene expression in which epigenetic modifications (imprints) are established during gametogenesis. For a given gene to show parentally biased expression, the imprint are established exclusively in one of the two parental genomes, thus generating an asymmetry between the maternal and paternal alleles.
response to cocaine	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cocaine stimulus. Cocaine is a crystalline alkaloid obtained from the leaves of the coca plant.
response to estradiol	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of stimulus by estradiol, a C18 steroid hormone hydroxylated at C3 and C17 that acts as a potent estrogen.
response to ionizing radiation	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a ionizing radiation stimulus. Ionizing radiation is radiation with sufficient energy to remove electrons from atoms and may arise from spontaneous decay of unstable isotopes, resulting in alpha and beta particles and gamma rays. Ionizing radiation also includes X-rays.
response to lead ion	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lead ion stimulus.
response to toxic substance	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a toxic stimulus.
response to vitamin A	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vitamin A stimulus.
response to xenobiotic stimulus	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.
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.

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q4W5Z4	DNMT3A	DNA	Gallus gallus (Chicken)	SS
Q9UBC3	DNMT3B	DNA	Homo sapiens (Human)	EV
O88509	Dnmt3b	DNA	Mus musculus (Mouse)	SS
O88508	Dnmt3a	DNA	Mus musculus (Mouse)	EV
Q1LZ53	Dnmt3a	DNA	Rattus norvegicus (Rat)	SS

10	20	30	40	50	60
MPAMPSSGPG	DTSSSAAERE	EDRKDGEEQE	EPRGKEERQE	PSTTARKVGR	PGRKRKHPPV
70	80	90	100	110	120
ESGDTPKDPA	VISKSPSMAQ	DSGASELLPN	GDLEKRSEPQ	PEEGSPAGGQ	KGGAPAEGEG
130	140	150	160	170	180
AAETLPEASR	AVENGCCTPK	EGRGAPAEAG	KEQKETNIES	MKMEGSRGRL	RGGLGWESSL
190	200	210	220	230	240
RQRPMPRLTF	QAGDPYYISK	RKRDEWLARW	KREAEKKAKV	IAGMNAVEEN	QGPGESQKVE
250	260	270	280	290	300
EASPPAVQQP	TDPASPTVAT	TPEPVGSDAG	DKNATKAGDD	EPEYEDGRGF	GIGELVWGKL
310	320	330	340	350	360
RGFSWWPGRI	VSWWMTGRSR	AAEGTRWVMW	FGDGKFSVVC	VEKLMPLSSF	CSAFHQATYN
370	380	390	400	410	420
KQPMYRKAIY	EVLQVASSRA	GKLFPVCHDS	DESDTAKAVE	VQNKPMIEWA	LGGFQPSGPK
430	440	450	460	470	480
GLEPPEEEKN	PYKEVYTDMW	VEPEAAAYAP	PPPAKKPRKS	TAEKPKVKEI	IDERTRERLV
490	500	510	520	530	540
YEVRQKCRNI	EDICISCGSL	NVTLEHPLFV	GGMCQNCKNC	FLECAYQYDD	DGYQSYCTIC
550	560	570	580	590	600
CGGREVLMCG	NNNCCRCFCV	ECVDLLVGPG	AAQAAIKEDP	WNCYMCGHKG	TYGLLRRRED
610	620	630	640	650	660
WPSRLQMFFA	NNHDQEFDPP	KVYPPVPAEK	RKPIRVLSLF	DGIATGLLVL	KDLGIQVDRY
670	680	690	700	710	720
IASEVCEDSI	TVGMVRHQGK	IMYVGDVRSV	TQKHIQEWGP	FDLVIGGSPC	NDLSIVNPAR
730	740	750	760	770	780
KGLYEGTGRL	FFEFYRLLHD	ARPKEGDDRP	FFWLFENVVA	MGVSDKRDIS	RFLESNPVMI
790	800	810	820	830	840
DAKEVSAAHR	ARYFWGNLPG	MNRPLASTVN	DKLELQECLE	HGRIAKFSKV	RTITTRSNSI
850	860	870	880	890	900
KQGKDQHFPV	FMNEKEDILW	CTEMERVFGF	PVHYTDVSNM	SRLARQRLLG	RSWSVPVIRH
910
LFAPLKEYFA	CV