AiPD: Autoinhibited Protein Database

O75369

Gene name	FLNB (FLN1L, FLN3, TABP, TAP)
Protein name	Filamin-B
Names	FLN-B, ABP-278, ABP-280 homolog, Actin-binding-like protein, Beta-filamin, Filamin homolog 1, Fh1, Filamin-3, Thyroid autoantigen, Truncated actin-binding protein, Truncated ABP
Species	Homo sapiens (Human)
KEGG Pathway	hsa:2317
EC number
Protein Class	JITTERBUG, ISOFORM N (PTHR38537)

Descriptions

Filamins are actin-crosslinking proteins including an N terminal actin-binding domain and 24 Ig-like domain (IgFLNs). The N-terminus of IgFLNa20 forms a β-strand that associates with the integrin binding surface of IgFLNa21 and occupies the binding site for integrin adhesion receptors. Disruption of this IgFLNa20-IgFLNa21 interaction enhances filamin binding to integrin β-tails. In addition, IgFLNa18 negatively regulates the integrin binding to IgFLNa19.

Autoinhibitory domains (AIDs)

Target domain	2046-2141 (IgFLNa19 domain)
Relief mechanism	PTM, Others
Assay	Split protein assay

AID

1955-2045 (IgFLNa18 domain)

Target domain

2046-2141 (IgFLNa19 domain)

Relief mechanism

PTM (Putative phosphorylation at Ser2152 by PKA, PAK1, and RSK), Others (Putative mechanical force on filamin)

Assay

Split protein assay

Target domain	2236-2329 (IgFLNa21 domain)
Relief mechanism	PTM, Others
Assay	Deletion assay, Mutagenesis experiment, Structural analysis

AID

2091-2185 (IgFLNa20 domain)

Target domain

2236-2329 (IgFLNa21 domain)

Relief mechanism

PTM (Phosphorylation at Ser2152 by PKA, PAK1, and RSK), Others (Mechanical force acting on filamin)

Assay

Deletion assay, Mutagenesis experiment, Structural analysis

Accessory elements

No accessory elements

References

Lad Y et al. (2007) "Structure of three tandem filamin domains reveals auto-inhibition of ligand binding", The EMBO journal, 26, 3993-4004

Autoinhibited structure

Activated structure

24 structures for O75369

Entry ID	Method	Resolution	Chain	Position	Source
2DI8	NMR	-	A	1999-2096	PDB
2DI9	NMR	-	A	1017-1134	PDB
2DIA	NMR	-	A	1130-1229	PDB
2DIB	NMR	-	A	1215-1329	PDB
2DIC	NMR	-	A	1325-1422	PDB
2DJ4	NMR	-	A	1418-1518	PDB
2DLG	NMR	-	A	2104-2192	PDB
2DMB	NMR	-	A	1611-1721	PDB
2DMC	NMR	-	A	1899-2001	PDB
2E9I	NMR	-	A	2094-2192	PDB
2E9J	NMR	-	A	1504-1615	PDB
2EE6	NMR	-	A	2190-2287	PDB
2EE9	NMR	-	A	1736-1823	PDB
2EEA	NMR	-	A	1808-1915	PDB
2EEB	NMR	-	A	2284-2382	PDB
2EEC	NMR	-	A	2371-2488	PDB
2EED	NMR	-	A	2509-2602	PDB
2WA5	X-ray	190 A	A	2-242	PDB
2WA6	X-ray	195 A	A	2-242	PDB
2WA7	X-ray	185 A	A	2-242	PDB
3FER	X-ray	240 A	A/B/C/D	1-252	PDB
4B7L	X-ray	205 A	A/B	1-347	PDB
5DCP	X-ray	249 A	A/B	1737-1911	PDB
AF-O75369-F1	Predicted				AlphaFoldDB

2001 variants for O75369

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1378933541 CA353413179 RCV001145589	63	Y>H	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000714844 RCV000714843 rs751371914 CA2467473	67	H>Y	Boomerang dysplasia Larsen syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA2467477 rs756221503 RCV000325786	78	E>G	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001145590 rs2097094004	83	A>S	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinVar dbSNP
rs80356493 CA341841 RCV000020445	148	W>R	Atelosteogenesis type I [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_033069 CA130016 RCV000030660 rs80356506	161	F>C	Larsen syndrome (lrs) LRS Larsen syndrome [Ensembl, UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001871905 rs746892435 RCV001352899	167	D>E	Larsen syndrome [ClinVar]	Yes	ClinVar dbSNP
rs80356504 RCV001596945 CA343270 VAR_033070 RCV000032212	168	G>S	FLNB-Related Disorders LRS [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs80356494 RCV000020452 CA341853	171	L>Q	Atelosteogenesis type I [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs80356494 VAR_033071 RCV000006774 CA253859	171	L>R	Boomerang dysplasia BOOMD [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs587777259 RCV000114316 CA269449	173	A>T	Atelosteogenesis type I [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs121908894 VAR_033072 RCV000006770 CA253856	173	A>V	Atelosteogenesis type I AO1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs80356495 CA341855 RCV000020453	181	G>V	Atelosteogenesis type I [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000020454 rs80356496 CA341857	183	C>W	Atelosteogenesis type I [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs752318884 RCV001145705 CA2467562	188	S>C	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs368472521 CA16042534 RCV000413979 RCV001196906	191	P>L	Atelosteogenesis type III [ClinVar]	Yes	ClinGen ClinVar ESP TOPMed dbSNP gnomAD
RCV000020456 rs80356499 CA341860	201	A>V	Atelosteogenesis type III [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_033074 CA253857 RCV000006771 RCV000006772 rs121908895	202	M>V	Atelosteogenesis type I AO1 and AO3 Atelosteogenesis type III [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA341862 rs80356497 RCV000020457	203	Q>P	Atelosteogenesis type I [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000020458 CA341864 rs80356500	210	G>V	Atelosteogenesis type III [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001199171 rs2097209399	215	I>N	Atelosteogenesis type III [ClinVar]	Yes	ClinVar dbSNP
RCV000030662 CA130018 rs80356508 RCV001582470 VAR_033075	227	E>K	Larsen syndrome (lrs) LRS Larsen syndrome [Ensembl, UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000020459 rs80356507 CA341866 VAR_033076	234	L>V	LRS Larsen syndrome [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000006775 VAR_033077 CA253860 rs121908896	235	S>P	Boomerang dysplasia BOOMD [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001253005 RCV000281636 rs376619286 RCV001309562 CA2467612 RCV001197700	259	A>V	Atelosteogenesis type I FLNB-Related Spectrum Disorders Atelosteogenesis type III [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
COSM1485422 RCV000726545 rs145036794 RCV001148468 RCV000765752 CA2467638 COSM1485423 RCV000238833	270	M>V	FLNB-Related Spectrum Disorders Atelosteogenesis type III breast [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs886058760 RCV000371256 CA10616493	285	G>R	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA2467649 COSM1186333 COSM1186334 rs141151998 RCV001148469	288	D>E	lung FLNB-Related Spectrum Disorders [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1559688204 RCV000778710	289	V>missing	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinVar dbSNP
rs764368324 CA2467650 RCV000312999	289	V>M	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001028026 rs751747906 RCV000388042 CA2467651	291	V>M	Spondylocarpotarsal synostosis syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA341836 rs80356509 RCV000020441 VAR_033078	361	G>S	LRS Larsen syndrome [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA341837 rs80356510 VAR_033079 RCV000020442	363	G>E	LRS Larsen syndrome [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA2467732 rs774588966 RCV001150045	396	P>S	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001000487 RCV001150046 rs145673747 RCV000658964 CA2467734	399	K>R	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000328245 rs147854989 RCV001764312 CA2467757 COSM1753345 COSM1753346	430	I>M	FLNB-Related Spectrum Disorders urinary_tract [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs200902568 CA2467764 RCV001143916 COSM1593982 RCV001772339 COSM1047733	443	V>I	FLNB-Related Spectrum Disorders endometrium [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001143918 CA2467790 RCV002032361 rs377737248	456	R>Q	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs886058761 CA10619279 RCV000363991	458	S>N	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000324384 rs750354519 COSM192837 CA2467802 RCV001850836	470	R>Q	FLNB-Related Spectrum Disorders large_intestine [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
rs199589693 RCV001143919 RCV002032362 CA2467812	484	S>T	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs201544295 RCV000937432 CA2467841 RCV000433320 RCV001143920	512	A>T	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA239197 RCV000173739 RCV000434898 RCV001145812 rs138220431	520	P>L	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2097255297 RCV001145813	528	T>I	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinVar dbSNP
RCV000782185 rs746105983	532	H>missing	Spondylocarpotarsal synostosis syndrome [ClinVar]	Yes	ClinVar dbSNP
CA2467888 RCV001464554 rs200619215 RCV001000235 RCV001145814	547	A>V	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs145891515 CA2467897 RCV000321081	563	I>T	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs150747960 COSM32695 RCV001342420 CA2467901 VAR_035917 RCV001145816	566	R>Q	a breast cancer sample; somatic mutation FLNB-Related Spectrum Disorders breast [UniProt, ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2097257677 RCV001169838	580	G>V	Atelosteogenesis type III [ClinVar]	Yes	ClinVar dbSNP
RCV000203066 RCV000930680 rs145314043 RCV000281180 CA249268	623	D>V	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA341838 RCV000020443 rs80356517	649	R>*	Spondylocarpotarsal synostosis syndrome Spondylocarpotarsal synostosis syndrome (sct) [ClinVar, Ensembl]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001148579 RCV000353068 CA2467983 rs145910735	649	R>Q	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
COSM1485428 CA2467997 COSM446929 RCV000294860 RCV001850837 rs144158201	679	P>S	FLNB-Related Spectrum Disorders breast [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs148679414 RCV001148581 CA2468018 RCV001344537	687	G>R	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs2097264489 RCV001150149	695	Q>R	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinVar dbSNP
RCV001150150 RCV001882462 CA2468026 rs374090457	702	G>S	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs28937587 RCV000006773 CA253858 RCV000508566 VAR_033080	751	G>R	AO3 Atelosteogenesis type III [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA2468069 rs758045039 RCV001270838	766	T>M	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001198350 rs940585956 CA75435488	806	T>K	Atelosteogenesis type III [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000006768 CA340573 rs80356519	818	R>*	Spondylocarpotarsal synostosis syndrome Spondylocarpotarsal synostosis syndrome (sct) [ClinVar, Ensembl]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs765267560 CA353345594 RCV001144009	839	V>G	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000506355 rs139124254 CA2468192 RCV001350518 RCV001144011	882	V>L	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1163659798 RCV001145916	935	T>I	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinVar dbSNP
CA10616506 RCV000357825 rs199653368	970	G>R	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002057891 rs376511120 RCV000318295 CA2468284 RCV000608808	979	V>M	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_017182 RCV001145918 RCV001496265 CA2468313 rs2276742	1018	V>M	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs749249092 CA2468377 RCV001148703 RCV001882458	1096	S>F	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV002032379 CA2468379 rs144874876 RCV001148705	1097	V>I	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA2468393 RCV001148706 rs779765790	1117	H>R	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001150260 CA2468407 rs150475174 RCV002032390	1137	V>M	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs199959926 CA2468409 RCV000910466 RCV001150261	1144	E>Q	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000677697 rs1553701033	1149	G>missing	Spondylocarpotarsal synostosis syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001150262 CA2468422 rs201254275	1159	S>L	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2468432 RCV000388242 rs758399938	1172	S>L	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA2468457 rs750177565 RCV000384958	1203	T>M	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA2468458 RCV001332006 rs756396172	1206	M>V	Atelosteogenesis type I [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001144131 CA2468468 rs370716086	1218	A>T	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs200622119 RCV001882444 CA2468542 RCV001144134	1264	D>E	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
CA2468558 RCV000946746 RCV000245004 RCV000306022 rs62621997	1286	A>V	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000342207 rs886058763 CA10619326	1294	Y>C	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs781310409 RCV000778711	1301	L>missing	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinVar dbSNP
rs767618168 CA10617196 RCV000394426	1336	P>S	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs146093652 CA2468619 RCV000302850 COSM1725232 COSM1725233 RCV000284450	1347	N>S	FLNB-Related Spectrum Disorders liver [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001379117 VAR_033081 CA341840 rs80356511 RCV000020444	1431	L>R	LRS Larsen syndrome [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA2468725 RCV000330717 rs754634696	1440	L>P	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs886044175 RCV001150331 RCV000764513 RCV000309759 CA10606441	1464	G>A	FLNB-Related Spectrum Disorders Atelosteogenesis type III [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000247641 RCV000271883 VAR_031393 RCV001520204 rs12632456 CA2468769	1471	V>M	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001858946 RCV001144240 rs141098733 CA2468770	1472	V>M	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001332007 rs770433500 CA75458469	1529	S>P	Atelosteogenesis type I [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA353351802 rs1356745912 RCV001561858 RCV000987282	1542	I>T	Larsen syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs80356512 VAR_033082 RCV000020446	1571	N>missing	LRS Larsen syndrome [UniProt, ClinVar]	Yes	ClinVar UniProt dbSNP
rs80356498 RCV000020447	1583	D>missing	Atelosteogenesis type I [ClinVar]	Yes	ClinVar dbSNP
RCV000030661 VAR_033083 rs80356513 CA130017	1586	G>R	Larsen syndrome (lrs) LRS Larsen syndrome [Ensembl, UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000381626 CA2468860 rs780225340	1589	M>K	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000677698 rs1553703909	1590	I>missing	Spondylocarpotarsal synostosis syndrome [ClinVar]	Yes	ClinVar dbSNP
VAR_033084 RCV000020448 CA341847 rs80356514	1592	V>D	LRS Larsen syndrome [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs80356501 RCV000020449 CA341848	1602	S>P	Atelosteogenesis type III [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000020450 CA341850 VAR_033085 rs80356515	1603	P>L	LRS Larsen syndrome [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA340575 rs80356520 RCV000006769	1607	R>*	Spondylocarpotarsal synostosis syndrome Spondylocarpotarsal synostosis syndrome (sct) [ClinVar, Ensembl]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001144243 CA2468872 rs761698437	1609	T>I	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000032211 rs80356505 CA343268	1612	G>D	FLNB-Related Disorders [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs753946814 RCV000509290 CA353352308	1620	T>K	FLNB-Related Disorder [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs200727113 COSM584423 COSM1143377 RCV001472176 RCV001144244 CA2468904	1625	A>T	lung FLNB-Related Spectrum Disorders [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs80356502 RCV000020451 CA341851	1643	A>S	Atelosteogenesis type III [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs868820857 RCV000856788 CA75461448	1643	A>V	Larsen syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV002070769 rs142114129 RCV001146131 CA2468920	1660	A>T	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001146132 rs753576403 CA2468922	1661	E>K	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs780823510 RCV000341940 CA2468930	1681	P>R	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1553704446 CA353353187 RCV000625945	1691	G>D	Larsen syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000030663 RCV001064985 VAR_033086 rs80356503 CA130019	1691	G>S	Larsen syndrome (lrs) LRS Larsen syndrome [Ensembl, UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA2468960 rs138141099 RCV000283313 RCV001454227	1712	V>M	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs886058764 CA10619303 RCV000340694	1768	S>F	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001858959 CA353353885 rs1343990349 RCV001146133	1776	I>T	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs80356516 RCV000020455 VAR_033087 CA341859	1834	G>R	LRS Larsen syndrome [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA353354759 rs1178860596 RCV001333942	1842	F>L	Atelosteogenesis type I [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA253863 rs121908898 RCV000006777	1850	G>*	Spondylocarpotarsal synostosis syndrome Spondylocarpotarsal synostosis syndrome (sct) [ClinVar, Ensembl]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000924030 rs372372509 CA2469161 RCV000399022	1939	T>M	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000370591 rs368965386 CA2469211	1973	E>K	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs121908897 RCV000006776 CA253861	2004	R>*	Spondylocarpotarsal synostosis syndrome Spondylocarpotarsal synostosis syndrome (sct) [ClinVar, Ensembl]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000998094 CA2469228 RCV001254636 rs138034708 RCV001150458	2010	R>C	FLNB-Related Spectrum Disorders Spondylocarpotarsal synostosis syndrome Spondylocarpotarsal synostosis syndrome (sct) [ClinVar, Ensembl]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM1485431 RCV000305357 CA2469232 rs137885421 RCV001150459 COSM446933	2016	R>Q	FLNB-Related Spectrum Disorders breast [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002069279 rs375752014 RCV001196366 CA2469263	2055	G>D	Atelosteogenesis type III [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001144361 CA2469279 rs141559684	2076	A>T	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs80356521 RCV000006767	2137	S>missing	Spondylocarpotarsal synostosis syndrome [ClinVar]	Yes	ClinVar dbSNP
CA2469398 rs578244438 RCV001144365	2139	R>H	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs2097350829 RCV001333943	2215	S>G	Atelosteogenesis type I [ClinVar]	Yes	ClinVar dbSNP
RCV000960837 RCV000363293 CA2469462 rs138327769 RCV000247300	2227	S>C	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000266786 CA10619304 rs886058765	2230	V>A	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1244864911 RCV001146267 CA353360444	2234	S>T	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000324232 CA2469480 RCV002057893 rs200567066	2252	Y>F	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001149058 rs2097352940	2294	S>R	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinVar dbSNP
RCV001149059 CA2469541 rs143005300 RCV001395771	2310	I>V	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000376595 RCV000971871 rs116826041 CA2469544 RCV000987283 RCV000249436	2319	I>T	FLNB-Related Spectrum Disorders Larsen syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs147537617 RCV000284449 CA2469565	2335	V>M	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA341867 rs80356518 RCV000020460	2343	Y>*	Spondylocarpotarsal synostosis syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001501379 RCV000318213 CA2469595 rs139325959	2347	F>L	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001753814 rs146963572 RCV000335866 CA2469602	2374	R>C	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs142023538 COSM2782607 COSM2782606 CA2469618 RCV001495362 RCV001150566	2395	E>K	FLNB-Related Spectrum Disorders haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000973023 CA2469646 rs202143851 RCV001144475	2419	V>I	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs149182236 RCV000310517 CA2469701	2496	S>L	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000362857 CA2469716 RCV001753815 rs142878980	2512	A>T	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001146394 rs202215191 CA2469730	2537	C>Y	FLNB-Related Spectrum Disorders [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001267840 CA2469778 rs369949841	2575	V>I	Atelosteogenesis type III [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA2469786 RCV001197294 RCV001411753 rs144321868	2587	W>L	Atelosteogenesis type III [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA2467437 rs758201060	2	P>S		No	ClinGen ExAC gnomAD
CA353412790 rs1576576258	5	E>G		No	ClinGen Ensembl
CA353412787 rs1420322834	5	E>Q		No	ClinGen gnomAD
rs781272365 CA2467441	7	D>V		No	ClinGen ExAC gnomAD
CA2467443 rs376917060	8	L>I		No	ClinGen ESP ExAC gnomAD
rs1166656084 CA353412811	8	L>P		No	ClinGen gnomAD
CA75563930 rs888581942	10	E>A		No	ClinGen TOPMed gnomAD
rs769055809 CA2467446	10	E>K		No	ClinGen ExAC TOPMed gnomAD
rs772777005 CA2467447	11	D>N		No	ClinGen ExAC TOPMed gnomAD
CA353412879 rs1244879124	18	Q>P		No	ClinGen gnomAD
rs760976111 CA75563977	27	N>S		No	ClinGen Ensembl
rs1428809108 CA353412955	28	E>V		No	ClinGen TOPMed
CA353412959 rs1235295927	29	H>Y		No	ClinGen gnomAD
CA2467450 rs776287368	30	L>V		No	ClinGen ExAC gnomAD
rs759061129 CA2467451	31	K>R		No	ClinGen ExAC gnomAD
rs1481548213 CA353412996	34	N>S		No	ClinGen gnomAD
rs142568031 RCV000888529 CA2467454 RCV000508479	36	R>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs142568031 CA2467455	36	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1249133663 CA353413013	37	I>V		No	ClinGen gnomAD
rs1198656971 CA353413046	42	T>A		No	ClinGen TOPMed
rs965535331 CA75563995	42	T>N		No	ClinGen Ensembl
rs781324487 COSM1617961 CA2467458 COSM1617960	43	D>N	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1171618218 CA353413071	46	D>N		No	ClinGen gnomAD
rs977421756 CA75564022	47	G>R		No	ClinGen Ensembl
CA353413093 rs1322262022	49	R>L		No	ClinGen TOPMed
rs1260817076 CA353413100	51	I>L		No	ClinGen TOPMed
rs1260817076 CA353413101	51	I>V		No	ClinGen TOPMed
rs768998920 CA2467463	55	E>Q		No	ClinGen ExAC gnomAD
rs1306005428 CA353413141	57	L>P		No	ClinGen TOPMed
rs779370264 CA2467464	58	S>I		No	ClinGen ExAC gnomAD
CA2467465 rs748397777	59	Q>*		No	ClinGen ExAC gnomAD
CA353413158 rs1291636394	60	K>E		No	ClinGen gnomAD
rs1241394741 CA353413166	61	R>G		No	ClinGen gnomAD
rs770724869 CA353413168	61	R>H		No	ClinGen ExAC TOPMed gnomAD
CA2467466 rs770724869	61	R>L		No	ClinGen ExAC TOPMed gnomAD
rs566615110 CA2467467	62	M>L		No	ClinGen 1000Genomes ExAC gnomAD
CA2467468 rs759185725	64	R>H		No	ClinGen ExAC gnomAD
rs759185725 CA2467469	64	R>L		No	ClinGen ExAC gnomAD
CA2467471 rs775339823	65	K>R		No	ClinGen ExAC TOPMed gnomAD
rs775339823 CA2467470	65	K>T		No	ClinGen ExAC TOPMed gnomAD
CA2467472 rs763897198	66	Y>C		No	ClinGen ExAC gnomAD
rs751371914 CA2467474	67	H>N		No	ClinGen ExAC gnomAD
CA2467475 rs369273712	69	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA353413231 rs1254928825	71	T>S		No	ClinGen TOPMed gnomAD
CA353413249 rs1186772418	74	Q>*		No	ClinGen gnomAD
CA353413293 rs1170343161	80	V>M		No	ClinGen gnomAD
CA2467480 rs755518501	89	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2467481 rs755518501	89	R>G		No	ClinGen ExAC TOPMed gnomAD
rs748584384 CA2467482	90	E>K		No	ClinGen ExAC gnomAD
CA75564184 rs555125243	91	S>N		No	ClinGen 1000Genomes ExAC gnomAD
rs555125243 CA2467483	91	S>T		No	ClinGen 1000Genomes ExAC gnomAD
CA2467484 rs62622011	92	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1559632853 CA353413409	98	D>N		No	ClinGen Ensembl
CA2467507 rs201852092	99	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs748051826 CA75427520	104	D>N		No	ClinGen ExAC gnomAD
CA2467508 rs748051826	104	D>Y		No	ClinGen ExAC gnomAD
rs1470533721 CA353333149	105	G>A		No	ClinGen gnomAD
rs773000272 CA2467510	106	N>K		No	ClinGen ExAC TOPMed gnomAD
rs771943943 CA2467509	106	N>S		No	ClinGen ExAC gnomAD
rs1165934410 CA353333176	110	I>L		No	ClinGen TOPMed gnomAD
rs760408504 CA2467511	110	I>T		No	ClinGen ExAC TOPMed gnomAD
CA2467513 rs776716609	114	V>L		No	ClinGen ExAC TOPMed gnomAD
CA353333200 rs776716609	114	V>M		No	ClinGen ExAC TOPMed gnomAD
COSM1207230 rs201165196 CA2467514 COSM1207231	116	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA2467517 rs147846832	121	Y>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA353333278 rs1337397235	125	M>I		No	ClinGen TOPMed gnomAD
rs764628343 CA353333287	127	V>L		No	ClinGen ExAC TOPMed gnomAD
rs764628343 CA2467518	127	V>M		No	ClinGen ExAC TOPMed gnomAD
CA75427566 rs1018112474	128	W>R		No	ClinGen TOPMed gnomAD
CA353333318 rs1231182937	131	E>A		No	ClinGen gnomAD
CA2467519 rs745886230	131	E>V		No	ClinGen ExAC
rs1559676530 CA353333349	135	D>V		No	ClinGen Ensembl
rs757548101 CA2467521	135	D>Y		No	ClinGen ExAC gnomAD
CA2467522 rs779819391	138	K>Q		No	ClinGen ExAC gnomAD
CA353333384 rs748857986	140	T>K		No	ClinGen ExAC TOPMed gnomAD
rs748857986 CA2467523	140	T>M		No	ClinGen ExAC TOPMed gnomAD
CA75427601 rs867983619	144	R>K		No	ClinGen Ensembl
rs370470693 CA2467525	147	G>W		No	ClinGen ESP ExAC gnomAD
rs80356493 CA353333429	148	W>G		No	ClinGen Ensembl
CA353333438 rs1576676864	149	I>V		No	ClinGen Ensembl
rs184728014 CA75427617	150	Q>K		No	ClinGen 1000Genomes
CA353333456 rs1321580540	151	N>I		No	ClinGen TOPMed
CA2467526 rs747594015	154	P>R		No	ClinGen ExAC gnomAD
rs772013221 CA2467527	159	T>I		No	ClinGen ExAC TOPMed gnomAD
CA353333511 rs772013221	159	T>S		No	ClinGen ExAC TOPMed gnomAD
RCV001352319 rs2097202915	160	N>T		No	ClinVar dbSNP
CA2467528 rs777678654	162	N>Y		No	ClinGen ExAC gnomAD
CA10604687 rs886042790 RCV000314947	164	N>K		No	ClinGen ClinVar Ensembl dbSNP
rs1335347141 CA353333555	165	W>*		No	ClinGen TOPMed
rs2097202948 RCV001321897	166	Q>H		No	ClinVar dbSNP
CA353333575 RCV001002590 rs80356504	168	G>C		No	ClinGen ClinVar Ensembl dbSNP
rs202241565 CA2467531	176	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA353333617 rs1175818773	176	D>N		No	ClinGen gnomAD
CA353333627 rs1340509636	177	S>N		No	ClinGen gnomAD
rs1485636886 CA353333771	184	P>A		No	ClinGen TOPMed
CA353333776 rs1284111012	185	D>H		No	ClinGen TOPMed
rs1462354199 CA353333801	188	S>T		No	ClinGen TOPMed gnomAD
rs1576678884 CA353333818	190	D>A		No	ClinGen Ensembl
rs529273616 CA75428441	191	P>T		No	ClinGen 1000Genomes gnomAD
rs1382369943 CA353333840	193	K>N		No	ClinGen TOPMed
CA891862915 RCV000722985 rs1559677548	193	K>Q		No	ClinGen ClinVar Ensembl dbSNP
rs181769752 CA2467566	193	K>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA75428456 rs199977224	194	P>S		No	ClinGen Ensembl
rs1328223925 CA353333847	195	V>M		No	ClinGen gnomAD
rs781124586 CA2467567	196	D>N		No	ClinGen ExAC gnomAD
rs1251271008 CA353333875	199	R>*		No	ClinGen Ensembl
rs1576678966 CA353333877	199	R>Q		No	ClinGen Ensembl
rs1209200091 CA353333905	203	Q>H		No	ClinGen gnomAD
rs745706435 CA75428490	210	G>C		No	ClinGen ExAC TOPMed gnomAD
rs745706435 CA2467568	210	G>R		No	ClinGen ExAC TOPMed gnomAD
rs367648404 CA2467592	215	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs755253275 CA2467593	216	T>I		No	ClinGen ExAC gnomAD
rs1395279349 CA353334035	221	I>S		No	ClinGen gnomAD
CA2467595 rs574643677	223	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA75429837 rs151014421	223	P>S		No	ClinGen 1000Genomes
CA75429839 rs1000134283	226	D>E		No	ClinGen TOPMed gnomAD
rs772165318 CA2467597	228	H>L		No	ClinGen ExAC gnomAD
rs771387705 CA2467600	233	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs984017977 CA75429901	236	Q>H		No	ClinGen TOPMed
CA353334135 rs984017977	236	Q>H		No	ClinGen TOPMed
CA353334155 rs1264328291	239	K>R		No	ClinGen gnomAD
rs763710544 CA2467603	244	P>A		No	ClinGen ExAC gnomAD
CA2467605 rs140037128	244	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2467604 rs140037128	244	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs763710544 CA353334187	244	P>S		No	ClinGen ExAC gnomAD
rs1184941578 CA353334203	247	P>S		No	ClinGen Ensembl
rs1174181103 CA353334207	248	L>F		No	ClinGen gnomAD
rs749900657 CA2467607	248	L>P		No	ClinGen ExAC gnomAD
CA75429940 rs1055964862	251	K>R		No	ClinGen TOPMed
rs756148157 CA2467608	252	L>F		No	ClinGen ExAC gnomAD
rs756148157 CA2467609	252	L>I		No	ClinGen ExAC gnomAD
CA75429961 rs569503999	257	A>T		No	ClinGen Ensembl
rs1432733529 CA353334280	259	A>S		No	ClinGen gnomAD
CA2467613 rs752945898	260	Y>C		No	ClinGen ExAC gnomAD
CA75429991 rs986194672	263	G>R		No	ClinGen TOPMed
CA353334327 rs7623314	264	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1576707069 CA353334324	264	I>N		No	ClinGen Ensembl
rs757322226 CA2467636	266	P>H		No	ClinGen ExAC TOPMed gnomAD
rs757322226 CA2467635	266	P>L		No	ClinGen ExAC TOPMed gnomAD
rs757322226 CA353334338	266	P>R		No	ClinGen ExAC TOPMed gnomAD
rs751698758 CA2467634	266	P>S		No	ClinGen ExAC gnomAD
rs1576707115 CA353334339	267	T>P		No	ClinGen Ensembl
CA2467637 rs746351342	269	N>T		No	ClinGen ExAC TOPMed gnomAD
rs1474114049 CA353334364	270	M>I		No	ClinGen gnomAD
rs1576707154 CA353334371	271	V>G		No	ClinGen Ensembl
rs780494761 CA2467639	273	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1410087912 CA353334403	276	K>R		No	ClinGen TOPMed gnomAD
rs1411257134 CA353334416	278	T>A		No	ClinGen TOPMed
CA353334433 rs1471477791	280	D>E		No	ClinGen gnomAD
rs1158087292 CA353334440	281	T>I		No	ClinGen gnomAD
rs771766815 CA2467641	282	I>V		No	ClinGen ExAC
rs772982798 CA2467642	283	S>G		No	ClinGen ExAC TOPMed gnomAD
rs760304957 CA2467643	283	S>N		No	ClinGen ExAC TOPMed gnomAD
CA2467646 rs147844614	284	A>S		No	ClinGen ESP ExAC gnomAD
CA2467645 rs147844614	284	A>T		No	ClinGen ESP ExAC gnomAD
CA353334465 rs1576707248	286	Q>P		No	ClinGen Ensembl
rs764368324 CA353334484	289	V>L		No	ClinGen ExAC TOPMed gnomAD
rs757375169 CA2467652	291	V>A		No	ClinGen ExAC TOPMed gnomAD
CA353334521 rs1576707299	294	E>D		No	ClinGen Ensembl
rs767605044 CA2467653	294	E>G		No	ClinGen ExAC gnomAD
CA75439971 rs940499590	296	P>T		No	ClinGen TOPMed gnomAD
rs1428670206 CA353334543	298	G>R		No	ClinGen gnomAD
rs1559688229 CA353334553	299	N>S		No	ClinGen Ensembl
CA353334566 rs1207447868	301	E>Q		No	ClinGen gnomAD
CA353335126 rs1576709426	303	A>V		No	ClinGen Ensembl
rs147591946 CA2467667	304	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA75440901 rs991123984	305	V>A		No	ClinGen Ensembl
CA353335162 rs1190444709	306	T>A		No	ClinGen gnomAD
rs1190444709 CA353335160	306	T>P		No	ClinGen gnomAD
CA353335192 rs1387765956	308	D>A		No	ClinGen gnomAD
rs1387765956 COSM281184 CA353335194	308	D>G	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA75440902 rs948896228	309	S>G		No	ClinGen TOPMed
CA2467668 rs774083562	309	S>I		No	ClinGen ExAC gnomAD
CA353335213 rs1522384	309	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA353335233 rs1403971401	310	D>E		No	ClinGen TOPMed gnomAD
CA353335223 rs1576709484	310	D>N		No	ClinGen Ensembl
CA2467671 rs750525817	316	S>A		No	ClinGen ExAC TOPMed gnomAD
CA353335331 rs1327399055	316	S>C		No	ClinGen gnomAD
CA353335330 rs1327399055	316	S>F		No	ClinGen gnomAD
rs766974304 CA2467673	325	G>R		No	ClinGen ExAC TOPMed gnomAD
CA2467674 rs754280991	327	H>Y		No	ClinGen ExAC gnomAD
RCV000419435 rs1057523117 CA16604997	328	K>E		No	ClinGen ClinVar Ensembl dbSNP
CA2467684 rs749203407	332	L>H		No	ClinGen ExAC TOPMed gnomAD
rs749203407 CA353335575	332	L>P		No	ClinGen ExAC TOPMed gnomAD
rs768539992 CA2467685	334	A>S		No	ClinGen ExAC gnomAD
CA2467686 rs375699133	336	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA353335617 rs1268028637	338	I>M		No	ClinGen TOPMed
rs571037720 CA2467691	345	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs571037720 CA2467690	345	V>M		No	ClinGen 1000Genomes ExAC gnomAD
CA75442207 rs970005696	346	S>R		No	ClinGen TOPMed gnomAD
rs1400090647 CA353335673	347	V>I		No	ClinGen gnomAD
CA353335704 rs1343211592	351	Q>R		No	ClinGen TOPMed
rs1157344008 CA353335709	352	G>R		No	ClinGen TOPMed gnomAD
CA353335741 rs1411694347	356	K>R		No	ClinGen gnomAD
CA353335757 rs1232612390	359	A>T		No	ClinGen TOPMed
CA75442267 rs768500603	360	K>E		No	ClinGen Ensembl
CA353335772 rs794727854 RCV000497355	361	G>D		No	ClinGen ClinVar Ensembl dbSNP
CA247137 rs794727854 RCV000179827	361	G>V		No	ClinGen ClinVar Ensembl dbSNP
rs370434969 CA2467694	362	P>Q		No	ClinGen ESP ExAC gnomAD
rs1018372387 CA75442288	367	V>A		No	ClinGen TOPMed gnomAD
rs1018372387 CA353335808	367	V>E		No	ClinGen TOPMed gnomAD
CA2467699 COSM1593983 rs201867517 COSM1047732	371	A>T	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA2467700 rs192472825	374	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs374118649 CA353335888	379	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs374118649 CA2467701 RCV001001583	379	I>V		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA2467702 rs201882876	380	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2467703 rs575372278	381	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM94328 rs922655202 CA75442335	382	A>G	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs977231829 CA75442329	382	A>S		No	ClinGen TOPMed
CA2467726 rs368729696	383	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA2467727 rs745987694	384	A>P		No	ClinGen ExAC gnomAD
CA353336740 rs745987694	384	A>T		No	ClinGen ExAC gnomAD
CA353336742 rs1210302459	384	A>V		No	ClinGen TOPMed
CA2467728 rs371126835	385	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs892623277 CA75427313	386	V>M		No	ClinGen TOPMed
rs775659462 CA2467729	389	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1334841871 CA353336775	390	G>S		No	ClinGen gnomAD
rs763583078 CA2467730	391	V>L		No	ClinGen ExAC TOPMed gnomAD
rs763583078 CA353336781	391	V>M		No	ClinGen ExAC TOPMed gnomAD
CA2467731 rs764591872	393	V>A		No	ClinGen ExAC TOPMed gnomAD
rs764591872 CA353336798	393	V>G		No	ClinGen ExAC TOPMed gnomAD
rs753455911 CA2467735	400	N>S		No	ClinGen ExAC gnomAD
CA353336854 rs764760156 COSM353227	402	V>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA2467737 rs764760156	402	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1187953132 CA353336863	403	E>G		No	ClinGen gnomAD
rs752136994 CA2467738	404	L>V		No	ClinGen ExAC gnomAD
rs777753260 CA2467740	405	L>F		No	ClinGen ExAC TOPMed gnomAD
rs367842487 CA353336878	406	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs367842487 RCV000506277 CA2467742	406	V>M		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs781617769 CA2467743	409	K>R		No	ClinGen ExAC TOPMed gnomAD
rs746116976 CA2467744	413	V>M		No	ClinGen ExAC gnomAD
CA2467745 rs770097697	414	Y>F		No	ClinGen ExAC gnomAD
rs775714153 CA2467746	415	R>*		No	ClinGen ExAC gnomAD
CA2467747 rs371999821	415	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs927026973 CA75427361	416	C>Y		No	ClinGen gnomAD
CA2467748 rs146583950 RCV001344896	417	V>M		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1289469740 CA353336959	418	Y>C		No	ClinGen gnomAD
CA2467749 rs774917649	419	K>N		No	ClinGen ExAC gnomAD
rs1229453165 CA353336971	420	P>A		No	ClinGen TOPMed gnomAD
RCV000518966 CA353336975 rs1270447838	420	P>L		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1208018229 CA353336985	422	Q>K		No	ClinGen TOPMed
CA75427363 rs755517689	423	P>A		No	ClinGen TOPMed
rs1221117240 CA353336996	423	P>R		No	ClinGen gnomAD
CA2467753 rs572259451	426	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs764813590 CA2467754	427	V>M		No	ClinGen ExAC gnomAD
CA353337022 rs1189658661	428	V>I		No	ClinGen gnomAD
CA2467755 rs149133353	429	K>R		No	ClinGen 1000Genomes ExAC
CA353337061 rs1455523738	433	A>D		No	ClinGen TOPMed gnomAD
CA2467759 rs751496341	433	A>S		No	ClinGen ExAC gnomAD
rs1042432208 CA75427390	434	G>W		No	ClinGen Ensembl
CA2467761 RCV000729045 rs781162510	435	D>N		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA353337074 rs1438038906	436	T>P		No	ClinGen gnomAD
CA353337081 rs1182673965	437	I>V		No	ClinGen gnomAD
rs903845836 CA75427397	439	K>E		No	ClinGen gnomAD
rs903845836 CA353337093	439	K>Q		No	ClinGen gnomAD
CA353337108 rs745588918	441	P>A		No	ClinGen ExAC TOPMed gnomAD
CA353337109 rs745588918 RCV000723262	441	P>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs745588918 CA2467762	441	P>T		No	ClinGen ExAC TOPMed gnomAD
rs982545574 CA75427401	442	F>I		No	ClinGen TOPMed
rs200902568 CA2467765	443	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1466620096 CA353337129	444	V>A		No	ClinGen gnomAD
CA2467767 rs779336330	446	V>I		No	ClinGen ExAC gnomAD
CA353337851 rs1441992629 RCV000733138	449	A>V		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA353337864 rs780463201	451	N>I		No	ClinGen ExAC TOPMed gnomAD
CA2467787 rs780463201	451	N>S		No	ClinGen ExAC TOPMed gnomAD
CA75428693 rs752254396	452	P>L		No	ClinGen TOPMed gnomAD
CA2467788 rs754067988	453	N>S		No	ClinGen ExAC TOPMed gnomAD
CA353337884 rs1559693677	454	A>V		No	ClinGen Ensembl
rs377737248 CA2467791	456	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs758254035 CA2467789	456	R>W		No	ClinGen ExAC TOPMed gnomAD
CA2467792 rs772627315	457	A>D		No	ClinGen ExAC gnomAD
CA75428752 rs998829209	458	S>G		No	ClinGen gnomAD
CA353337911 rs1301691038	459	G>V		No	ClinGen TOPMed
CA75428787 rs903315552	460	R>*		No	ClinGen TOPMed gnomAD
CA353337915 rs1181693786	460	R>Q		No	ClinGen TOPMed gnomAD
CA2467797 rs762699889	466	G>A		No	ClinGen ExAC gnomAD
CA353337952 rs762699889	466	G>D		No	ClinGen ExAC gnomAD
rs373572801 CA2467799	467	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA2467800 rs139664696	468	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1446446854 CA353337961	468	R>H		No	ClinGen gnomAD
rs750354519 CA2467803	470	R>L		No	ClinGen ExAC TOPMed gnomAD
rs750354519 CA353337972	470	R>P		No	ClinGen ExAC TOPMed gnomAD
COSM1291761 rs767625705 CA2467801 COSM1291762	470	R>W	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA2467804 rs766217926	471	E>K		No	ClinGen ExAC gnomAD
CA75428803 rs753534124	473	T>A		No	ClinGen ExAC gnomAD
CA2467805 rs753534124	473	T>P		No	ClinGen ExAC gnomAD
rs778990606 CA2467807	474	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1279002910 CA353338009	476	K>R		No	ClinGen TOPMed gnomAD
CA353338008 rs1279002910 COSM1424918 COSM1424919	476	K>T	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA75428807 rs997382004	479	T>A		No	ClinGen TOPMed
CA353338030 rs200241997	479	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200241997 CA2467808	479	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA353338040 rs1489838299	481	A>P		No	ClinGen gnomAD
rs553034489 CA2467810	482	A>S		No	ClinGen 1000Genomes ExAC gnomAD
CA2467809 rs553034489	482	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA353338061 rs1370848029	484	S>R		No	ClinGen gnomAD
CA353338055 rs1576720627	484	S>R		No	ClinGen Ensembl
CA353338075 rs1474843094	486	E>D		No	ClinGen gnomAD
CA2467815 rs372779685	488	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs369048620 CA2467814	488	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2467817 rs147575358	491	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs771685608 CA2467818	492	K>Q		No	ClinGen ExAC gnomAD
CA2467819 rs772799923	493	G>V		No	ClinGen ExAC TOPMed gnomAD
CA75428848 rs763775912	495	K>E		No	ClinGen Ensembl
CA75429678 rs201241488	495	K>N		No	ClinGen Ensembl
CA2467835 rs747825411	496	G>C		No	ClinGen ExAC TOPMed gnomAD
CA353338142 rs747825411	496	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1329676199 CA353338145	496	G>V		No	ClinGen gnomAD
rs1230146712 CA353338166	499	E>D		No	ClinGen gnomAD
CA353338183 rs1258934756	502	K>R		No	ClinGen gnomAD
rs892239105 CA75429680	503	Q>E		No	ClinGen Ensembl
rs1249198698 CA353338190	503	Q>R		No	ClinGen TOPMed
rs771808375 CA2467836	506	F>L		No	ClinGen ExAC gnomAD
rs772851411 CA2467837	507	L>M		No	ClinGen ExAC gnomAD
CA353338229 rs544138399	508	D>H		No	ClinGen 1000Genomes ExAC gnomAD
CA2467838 rs544138399	508	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA2467839 rs770969895	509	G>R		No	ClinGen ExAC gnomAD
CA353338267 rs1576723546	510	V>G		No	ClinGen Ensembl
rs201544295 CA353338296	512	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs764967982 CA353338323	513	F>L		No	ClinGen ExAC TOPMed gnomAD
CA75429742 rs578032990	514	E>A		No	ClinGen 1000Genomes
rs763168530 CA2467844	514	E>D		No	ClinGen ExAC gnomAD
rs147001986 COSM1047736 CA2467843	514	E>K	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1387622061 CA353338392	518	S>N		No	ClinGen TOPMed
CA2467845 rs764245609	520	P>S		No	ClinGen ExAC gnomAD
rs1029216750 CA353338477	523	Y>*		No	ClinGen TOPMed gnomAD
rs768105116 CA2467847	523	Y>C		No	ClinGen ExAC gnomAD
CA2467848 rs750869078	524	S>T		No	ClinGen ExAC gnomAD
CA353338498 rs1173602659	525	I>L		No	ClinGen TOPMed
CA2467852 rs145086495	529	W>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2467853 rs145086495	529	W>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2467854 rs773943113	530	G>R		No	ClinGen ExAC TOPMed gnomAD
CA2467855 rs773943113	530	G>R		No	ClinGen ExAC TOPMed gnomAD
RCV000412741 rs773943113 CA2467856	530	G>W		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1559695165 CA353338581	531	G>E		No	ClinGen Ensembl
rs761624604 CA75429806	532	H>P		No	ClinGen gnomAD
rs761624604 CA75429808	532	H>R		No	ClinGen gnomAD
rs1221277532 CA353338610	533	H>Y		No	ClinGen gnomAD
CA353338632 rs1483843502	534	I>N		No	ClinGen gnomAD
CA353338629 rs1274965039	534	I>V		No	ClinGen gnomAD
CA353338647 rs1194391341	535	P>A		No	ClinGen gnomAD
CA2467884 rs139017674	539	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1316572349 CA353338803	539	F>S		No	ClinGen TOPMed
rs201576957 CA2467885	542	Q>H		No	ClinGen ExAC gnomAD
CA2467886 rs773177128	543	V>A		No	ClinGen ExAC TOPMed gnomAD
CA2467887 rs760794234	544	G>D		No	ClinGen ExAC gnomAD
rs760072122 CA2467890	553	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2467891 rs765729388	553	R>H		No	ClinGen ExAC TOPMed gnomAD
CA2467892 rs753042074	554	A>T		No	ClinGen ExAC TOPMed gnomAD
CA2467894 rs767188818	557	P>L		No	ClinGen ExAC gnomAD
rs756876300 CA2467893	557	P>S		No	ClinGen ExAC gnomAD
CA353339178 rs1302931926	559	L>F		No	ClinGen TOPMed
CA75430711 rs1009842406	560	H>Q		No	ClinGen TOPMed
RCV000443161 CA2467895 rs749965480	560	H>R		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA353339253 rs1472824413	563	I>L		No	ClinGen TOPMed
COSM1047738 rs1406398005 COSM1593978 CA353339283	564	V>A	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1229545925 CA353339303	565	G>E		No	ClinGen gnomAD
CA2467899 rs754869116 RCV001352208	565	G>R		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
COSM3696223 CA2467900 rs778577280 COSM3696224	566	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA2467902 rs772238830	567	S>L		No	ClinGen ExAC TOPMed gnomAD
CA2467903 rs773454165	568	A>V		No	ClinGen ExAC gnomAD
rs551771569 CA2467906	570	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs775779120 CA2467909	571	V>G		No	ClinGen ExAC
CA353339386 rs760127618	571	V>L		No	ClinGen ExAC gnomAD
rs760127618 CA2467907	571	V>L		No	ClinGen ExAC gnomAD
CA2467908 COSM1047739 COSM1593977 rs760127618	571	V>M	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA353339441 rs904473276	575	I>N		No	ClinGen TOPMed gnomAD
rs904473276 CA75430771	575	I>T		No	ClinGen TOPMed gnomAD
rs767113535 CA2467911	580	G>W		No	ClinGen ExAC gnomAD
CA75432161 rs372430835	583	G>E		No	ClinGen ESP TOPMed gnomAD
CA353339543 rs1213631482	583	G>R		No	ClinGen gnomAD
CA2467923 rs747267948	586	I>F		No	ClinGen ExAC gnomAD
rs999742406 CA75432178	586	I>T		No	ClinGen Ensembl
CA353340233 rs1242475647	590	S>T		No	ClinGen TOPMed
CA2467924 rs771213271	592	A>S		No	ClinGen ExAC gnomAD
rs1032537786 CA75432190	594	I>F		No	ClinGen TOPMed
CA2467925 RCV000433239 rs776866741	594	I>T		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1425931717 CA353340332	597	N>D		No	ClinGen gnomAD
CA2467926 rs745932204	597	N>S		No	ClinGen ExAC TOPMed gnomAD
rs776030392 CA2467928	598	D>N		No	ClinGen ExAC gnomAD
rs763272874 CA2467929	599	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs764538938 RCV000756185 CA2467930	603	S>L		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA2467933 rs765956425	604	C>Y		No	ClinGen ExAC gnomAD
rs753404542 CA2467934	606	V>A		No	ClinGen ExAC
CA353340542 rs1243730740	608	Y>H		No	ClinGen gnomAD
CA2467935 rs759041188	609	W>C		No	ClinGen ExAC gnomAD
CA353340571 rs1462618450	609	W>L		No	ClinGen gnomAD
CA75432281 rs965826827	610	P>L		No	ClinGen Ensembl
rs765137999 CA2467936	612	E>D		No	ClinGen ExAC gnomAD
rs758230977 CA2467938	615	E>K		No	ClinGen ExAC TOPMed gnomAD
CA2467940 rs576699229	619	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA353340691 rs757613361	620	I>M		No	ClinGen ExAC gnomAD
CA353340697 rs1403410798	621	M>T		No	ClinGen TOPMed gnomAD
CA353340693 rs1408888760	621	M>V		No	ClinGen gnomAD
rs781564840 CA2467943	622	C>F		No	ClinGen ExAC TOPMed gnomAD
CA353340705 rs781564840	622	C>S		No	ClinGen ExAC TOPMed gnomAD
CA2467946 rs749830197	624	D>G		No	ClinGen ExAC gnomAD
CA2467945 rs779944490	624	D>N		No	ClinGen ExAC TOPMed gnomAD
CA2467948 rs372998485	625	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs762150314 CA2467949	626	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA2467951 rs377324244	629	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA2467950 rs770637379	629	D>G		No	ClinGen ExAC TOPMed gnomAD
CA353340757 rs1186799910	630	S>G		No	ClinGen Ensembl
rs1221885244 CA353340759	630	S>I		No	ClinGen TOPMed gnomAD
CA353340762 rs1559697337	630	S>R		No	ClinGen Ensembl
CA2467953 rs764833888 COSM1670293 COSM1670294	631	P>L	kidney [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
RCV001000684 rs937051879 CA75432406 RCV000520662	633	M>V		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1274028248 CA353340785	634	A>T		No	ClinGen TOPMed
rs752082890 CA2467954	637	H>P		No	ClinGen ExAC gnomAD
rs775718314 CA2467955	638	P>Q		No	ClinGen ExAC gnomAD
rs1576728774 CA353340815	638	P>S		No	ClinGen Ensembl
CA2467957 rs751469101	639	A>G		No	ClinGen ExAC gnomAD
COSM1424929 COSM1424928 rs763927755 CA2467956	639	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC
CA2467958 rs62621999	640	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA353340838 rs1576728825	642	G>D		No	ClinGen Ensembl
rs781610030 CA2467959	643	Y>H		No	ClinGen ExAC gnomAD
rs146859540 CA2467960	644	N>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146859540 CA2467961	644	N>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1229062561 CA353340853	645	P>A		No	ClinGen TOPMed gnomAD
CA353340867 rs1437467595	647	L>V		No	ClinGen gnomAD
rs754981255 CA353341953	651	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs1391056566 CA353341940	651	Y>C		No	ClinGen TOPMed
rs1333827366 CA353342043	656	E>G		No	ClinGen TOPMed
CA353342063 rs1440007361	657	K>T		No	ClinGen gnomAD
rs748685768 CA2467987	659	G>E		No	ClinGen ExAC gnomAD
rs140945224 CA2467986	659	G>R		No	ClinGen ESP ExAC gnomAD
CA353342130 rs1466442916	660	C>G		No	ClinGen TOPMed
rs778125549 CA2467989	661	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1559698433 CA353342181	662	V>I		No	ClinGen Ensembl
CA2467991 rs769560299	664	N>D		No	ClinGen ExAC gnomAD
CA353342234 rs774977515	664	N>K		No	ClinGen ExAC TOPMed gnomAD
CA2467994 rs768307189	667	E>K		No	ClinGen ExAC gnomAD
RCV000757317 rs147481678 CA2467995	669	T>A		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA75433799 rs907266947	669	T>S		No	ClinGen gnomAD
rs1413411262 CA353342311	670	V>A		No	ClinGen gnomAD
rs1416959814 CA353342344	673	K>E		No	ClinGen TOPMed
rs1244812428 COSM1047744 CA353342435 COSM1593972	681	K>N	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
RCV001341190 CA2467998 rs773116327	683	F>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1023245486 CA75434342	686	D>A		No	ClinGen Ensembl
rs1023245486 CA75434347	686	D>G		No	ClinGen Ensembl
rs770654346 CA2468019	690	Q>H		No	ClinGen ExAC gnomAD
CA2468020 rs776421446	691	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1470246106 COSM1047745 CA353342643 COSM1593971	691	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1178543470 CA353342660	692	I>M		No	ClinGen gnomAD
CA353342704 COSM1047746 rs1403233441	695	Q>H	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1465062643 CA353342716	696	M>L		No	ClinGen gnomAD
CA2468021 rs759768586	698	N>S		No	ClinGen ExAC gnomAD
RCV000507555 rs752842243 CA2468023	699	R>Q		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001001584 rs200554477 CA2468022 RCV001456881	699	R>W		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs762991925 CA2468024	700	M>L		No	ClinGen ExAC gnomAD
CA2468027 rs757747038	703	T>I		No	ClinGen ExAC gnomAD
CA353342871 rs1360789764	704	Y>C		No	ClinGen TOPMed
CA353342893 rs1203424838	705	A>E		No	ClinGen gnomAD
rs1576733280 CA353342883	705	A>P		No	ClinGen Ensembl
CA353342904 rs1216502639	706	C>Y		No	ClinGen gnomAD
rs780137252 CA2468028	707	S>L		No	ClinGen ExAC TOPMed gnomAD
rs754733249 CA2468030	709	T>I		No	ClinGen ExAC gnomAD
CA2468031 rs754733249	709	T>N		No	ClinGen ExAC gnomAD
rs1262159783 CA353342972	710	P>L		No	ClinGen gnomAD
rs867388425 CA353342961	710	P>S		No	ClinGen TOPMed
rs867388425 CA75434478	710	P>T		No	ClinGen TOPMed
rs921908709 CA75434530	711	V>G		No	ClinGen Ensembl
CA353342981 rs1201338015	711	V>L		No	ClinGen gnomAD
rs777288340 CA353343005	712	K>N		No	ClinGen ExAC TOPMed gnomAD
CA2468035 rs150730748	713	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1159136482 CA353343024	714	I>F		No	ClinGen gnomAD
rs540724507 CA353343077	717	T>A		No	ClinGen TOPMed gnomAD
rs540724507 CA75434557	717	T>S		No	ClinGen TOPMed gnomAD
rs1366568037 CA353343105	719	A>S		No	ClinGen gnomAD
CA2468036 rs770844955	720	V>M		No	ClinGen ExAC gnomAD
CA75434576 rs1021647942	721	V>A		No	ClinGen TOPMed gnomAD
CA75434587 rs970014547	723	G>R		No	ClinGen TOPMed
rs766711540 CA75434591	724	G>C		No	ClinGen TOPMed
CA353343184 rs1314151389	724	G>D		No	ClinGen TOPMed
rs201814013 CA2468039	725	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2468040 rs200912807	727	I>T		No	ClinGen 1000Genomes ExAC
CA75434615 rs1004526712	727	I>V		No	ClinGen Ensembl
rs374007383 CA2468041	728	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2468043 rs764116026	729	H>R		No	ClinGen ExAC gnomAD
rs1421774901 CA353343227	730	S>N		No	ClinGen TOPMed
rs1266538760 CA353343241	732	Y>C		No	ClinGen TOPMed gnomAD
CA2468045 rs762236762	732	Y>H		No	ClinGen ExAC gnomAD
rs1488105296 CA353343245	733	R>G		No	ClinGen gnomAD
rs768051981 CA2468046	733	R>K		No	ClinGen ExAC gnomAD
CA353343277 rs1456390432	736	I>V		No	ClinGen gnomAD
rs745714160 CA2468056	737	G>R		No	ClinGen ExAC gnomAD
rs745714160 CA353343285	737	G>W		No	ClinGen ExAC gnomAD
CA353343300 rs1161322932	739	G>D		No	ClinGen TOPMed gnomAD
rs769601940 CA2468057	741	H>R		No	ClinGen ExAC gnomAD
rs1410932820 CA353343320	742	P>S		No	ClinGen gnomAD
rs1446728820 CA353343328	743	Q>R		No	ClinGen gnomAD
rs749520238 CA2468060	744	K>R		No	ClinGen ExAC gnomAD
rs768861338 CA2468061	746	K>R		No	ClinGen ExAC TOPMed gnomAD
rs768861338 CA2468062	746	K>T		No	ClinGen ExAC TOPMed gnomAD
rs2097265129 RCV001348254	749	G>R		No	ClinVar dbSNP
rs1478399022 CA353343387	750	P>L		No	ClinGen TOPMed
rs891939941 CA75434940	750	P>S		No	ClinGen TOPMed
CA75434967 rs1011676423	752	V>A		No	ClinGen TOPMed
rs1450719908 CA353343409	752	V>M		No	ClinGen gnomAD
rs761945948 CA2468063	754	R>G		No	ClinGen ExAC TOPMed gnomAD
rs767948104 CA2468064	759	A>T		No	ClinGen ExAC gnomAD
rs761213468 CA2468066	763	T>A		No	ClinGen ExAC gnomAD
CA353343592 rs1197987025	763	T>I		No	ClinGen gnomAD
CA75435002 rs1021680336	764	H>D		No	ClinGen TOPMed gnomAD
rs751072125 CA2468071	768	D>Y		No	ClinGen ExAC gnomAD
rs756771275 CA2468072	770	T>I		No	ClinGen ExAC TOPMed gnomAD
rs756771275 CA353343716	770	T>S		No	ClinGen ExAC TOPMed gnomAD
CA2468073 rs780634451	771	E>D		No	ClinGen ExAC gnomAD
rs1465536911 CA353343724	771	E>K		No	ClinGen gnomAD
rs1274191841 CA353343744	772	A>S		No	ClinGen TOPMed gnomAD
CA2468075 rs373528443	773	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA353343912 rs1247642284	775	G>D		No	ClinGen TOPMed
CA2468097 rs753613934	777	V>I		No	ClinGen ExAC TOPMed gnomAD
RCV000627040 COSM387336 CA353343971 rs1553698619	778	S>G	lung [Cosmic]	No	ClinGen cosmic curated ClinVar Ensembl dbSNP
CA353343980 rs1223632065	778	S>I		No	ClinGen gnomAD
CA75435317 rs950626396	780	G>D		No	ClinGen TOPMed
CA2468099 rs778522254	782	K>N		No	ClinGen ExAC TOPMed gnomAD
CA2468102 rs142314034	786	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2468101 rs201452322 RCV000756189	786	R>W		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs771607824 CA2468104	787	V>M		No	ClinGen ExAC TOPMed gnomAD
rs759913440 CA2468106	789	S>G		No	ClinGen ExAC
rs1392670034 CA353344334	790	E>K		No	ClinGen gnomAD
CA2468108 rs775654500	793	E>K		No	ClinGen ExAC gnomAD
CA2468111 rs146159035	794	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2468109 rs761537001	794	D>N		No	ClinGen ExAC
CA2468112 rs145413791	795	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA2468113 rs766355423	798	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA353344573 rs1265696648	799	I>V		No	ClinGen TOPMed
COSM1617965 CA353344639 COSM1617964 rs1216771950	802	N>D	liver [Cosmic]	No	ClinGen cosmic curated TOPMed
CA2468114 rs753838032	802	N>S		No	ClinGen ExAC gnomAD
CA353344683 rs1246319345	803	A>G		No	ClinGen TOPMed gnomAD
CA2468115 rs749300409	804	N>S		No	ClinGen ExAC TOPMed gnomAD
CA2468118 rs758759547	806	T>A		No	ClinGen ExAC gnomAD
CA353344740 rs940585956	806	T>M		No	ClinGen TOPMed gnomAD
CA353344741 rs940585956	806	T>R		No	ClinGen TOPMed gnomAD
CA353344777 rs1559699970	808	T>I		No	ClinGen Ensembl
rs1237703976 CA353344784	809	V>I		No	ClinGen gnomAD
CA353344832 rs1445435159	811	Y>C		No	ClinGen gnomAD
CA353344856 rs1324274482	813	P>A		No	ClinGen gnomAD
CA353344885 rs1341840209	815	A>S		No	ClinGen TOPMed
CA353344907 rs1456146699	817	G>E		No	ClinGen gnomAD
rs1433004417 CA353344902	817	G>R		No	ClinGen gnomAD
rs151259375 CA2468122	818	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA353344940 rs1328660392	820	T>A		No	ClinGen gnomAD
rs535822613 CA2468125	821	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1316781787 CA353344981	822	K>N		No	ClinGen gnomAD
RCV000722585 rs1559700069 CA353345012	825	F>S		No	ClinGen ClinVar Ensembl dbSNP
rs763307721 CA2468126	828	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA353345044 rs763307721	828	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs770433624 CA353345535	830	I>M		No	ClinGen ExAC gnomAD
CA353345533 rs1576738090	830	I>T		No	ClinGen Ensembl
rs114804033 CA2468150	832	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA353345576 rs1486074531	837	V>I		No	ClinGen TOPMed
rs765267560 CA2468151	839	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1211763482 CA353345601	840	D>E		No	ClinGen TOPMed
CA2468154 rs763982522	844	D>G		No	ClinGen ExAC gnomAD
rs903531666 CA75436944	844	D>N		No	ClinGen Ensembl
rs1362082515 CA353345655	848	V>A		No	ClinGen gnomAD
CA353345716 rs1346643610	857	K>I		No	ClinGen gnomAD
CA2468156 rs751338334	858	A>S		No	ClinGen ExAC gnomAD
CA353345739 rs1285042985	859	G>D		No	ClinGen gnomAD
rs1576738734 CA353345742	860	V>M		No	ClinGen Ensembl
CA2468175 rs555976908	861	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs767831448 CA2468176	862	N>D		No	ClinGen ExAC gnomAD
CA2468177 rs750635182 RCV000731963	862	N>K		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs550824256 CA75437304	863	G>A		No	ClinGen gnomAD
rs550824256 CA353345764	863	G>E		No	ClinGen gnomAD
rs760914568 CA2468178	865	P>L		No	ClinGen ExAC TOPMed gnomAD
rs760914568 CA75437306	865	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA2468180 rs767117429	866	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1386236064 CA353345782	866	T>I		No	ClinGen gnomAD
rs868737640 CA75437334	868	F>L		No	ClinGen Ensembl
CA353345805 rs1308574602	870	V>L		No	ClinGen TOPMed
rs1576738799 CA353345814	871	Y>C		No	ClinGen Ensembl
CA353345811 rs1559701420	871	Y>H		No	ClinGen Ensembl
CA353345822 rs1349766774	872	T>S		No	ClinGen gnomAD
CA2468182 rs779388923	873	K>E		No	ClinGen ExAC gnomAD
rs1333418796 CA353345829	873	K>N		No	ClinGen gnomAD
rs772849351 CA2468183	874	G>E		No	ClinGen ExAC gnomAD
CA2468186 rs538369447	878	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs778158822 CA2468185	878	A>T		No	ClinGen ExAC gnomAD
CA2468187 rs138585649	879	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs369025534 CA75437426	880	L>V		No	ClinGen Ensembl
rs372200549 CA2468190	881	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA353345873 RCV001002117 rs1199239072	881	N>S		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1199239072 CA353345872	881	N>T		No	ClinGen TOPMed gnomAD
rs139124254 CA2468193	882	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA2468195 rs760823646	883	Q>H		No	ClinGen ExAC gnomAD
CA10604353 rs886042526 RCV000301979	885	N>S		No	ClinGen ClinVar dbSNP gnomAD
rs753985242 CA2468197	887	P>L		No	ClinGen ExAC TOPMed gnomAD
CA353345927 rs1173528546	889	P>L		No	ClinGen gnomAD
rs753174160 COSM1692903 COSM1692904 CA2468200	891	D>N	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA353345945 rs1263010324	892	A>G		No	ClinGen TOPMed
CA2468201 rs758870543	894	K>N		No	ClinGen ExAC gnomAD
CA2468202 rs778010429	895	D>H		No	ClinGen ExAC gnomAD
CA2468203 rs751936743	898	I>T		No	ClinGen ExAC gnomAD
CA353345990 rs1378254918	899	I>F		No	ClinGen gnomAD
rs142925991 COSM1692905 COSM1692906 CA75437515	900	D>N	skin [Cosmic]	No	ClinGen cosmic curated ESP TOPMed gnomAD
rs142925991 CA75437516	900	D>Y		No	ClinGen ESP TOPMed gnomAD
CA75437531 rs966216026	902	Y>H		No	ClinGen Ensembl
CA2468206 rs748860299	904	Y>C		No	ClinGen ExAC
CA2468207 rs768308822	906	H>R		No	ClinGen ExAC TOPMed
CA353346038 rs1290855363	906	H>Y		No	ClinGen TOPMed
CA75437549 rs994062150	907	T>A		No	ClinGen Ensembl
rs1278734962 CA353346046	907	T>K		No	ClinGen TOPMed gnomAD
rs1278734962 CA353346048	907	T>M		No	ClinGen TOPMed gnomAD
CA75437552 rs868273443	911	T>I		No	ClinGen Ensembl
CA2468208 rs778529384	913	T>I		No	ClinGen ExAC gnomAD
rs748044026 CA2468209	914	Q>E		No	ClinGen ExAC gnomAD
CA353346111 rs1159079729	915	Q>*		No	ClinGen TOPMed
RCV001296951 rs1159079729	915	Q>E		No	ClinVar dbSNP
CA2468210 rs771989645	915	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA353346486 rs747682744	916	G>C		No	ClinGen ExAC gnomAD
CA2468226 rs747682744	916	G>S		No	ClinGen ExAC gnomAD
rs543269484 CA2468228	918	M>I		No	ClinGen 1000Genomes ExAC gnomAD
rs758337103 CA2468227	918	M>V		No	ClinGen ExAC gnomAD
rs569371124 CA2468229	919	Q>*		No	ClinGen ExAC gnomAD
rs569371124 CA75444002	919	Q>E		No	ClinGen ExAC gnomAD
CA2468230 rs562951480	919	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
rs139875974 CA201444	925	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2468233 rs775497173	925	G>D		No	ClinGen ExAC TOPMed gnomAD
CA2468232 rs139875974	925	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA353346544 rs1353514577	926	G>S		No	ClinGen gnomAD
CA2468236 rs774948491	927	D>E		No	ClinGen ExAC gnomAD
CA2468235 rs764553857	927	D>N		No	ClinGen ExAC TOPMed gnomAD
rs768000582 CA2468238	928	P>L		No	ClinGen ExAC gnomAD
CA2468237 rs762374283	928	P>T		No	ClinGen ExAC gnomAD
rs1177076184 CA353346573	930	P>L		No	ClinGen gnomAD
rs1367251833 CA353346570	930	P>S		No	ClinGen TOPMed
CA2468240 rs754737303	933	P>A		No	ClinGen ExAC gnomAD
CA353346605 rs1163659798	935	T>N		No	ClinGen gnomAD
CA75444047 rs375703586	935	T>S		No	ClinGen ESP TOPMed
CA2468242 rs752189175	939	A>T		No	ClinGen ExAC gnomAD
rs1377086089 CA353346631	940	A>T		No	ClinGen TOPMed gnomAD
CA2468243 rs757904539	940	A>V		No	ClinGen ExAC gnomAD
CA2468244 rs777107156	941	P>L		No	ClinGen ExAC TOPMed gnomAD
CA353346639 rs777107156	941	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs1576750644 CA353346641	942	L>M		No	ClinGen Ensembl
CA353346644 rs1245934133	942	L>P		No	ClinGen gnomAD
CA2468246 rs757126297	943	D>E		No	ClinGen ExAC gnomAD
rs1354829927 CA353346675	947	I>V		No	ClinGen gnomAD
rs1295057728 CA353346689	949	L>F		No	ClinGen TOPMed
CA353346693 rs1209808181	949	L>P		No	ClinGen gnomAD
CA75444080 rs147025168	950	N>S		No	ClinGen ESP
CA353346702 rs1459189102	951	G>R		No	ClinGen gnomAD
rs1339572922 CA353346718	953	E>G		No	ClinGen TOPMed
CA75445517 rs191462781	955	R>K		No	ClinGen 1000Genomes ExAC gnomAD
rs191462781 CA2468265	955	R>T		No	ClinGen 1000Genomes ExAC gnomAD
CA2468267 rs779676897	956	V>A		No	ClinGen ExAC gnomAD
CA353347215 rs1342917330	958	V>I		No	ClinGen gnomAD
CA2468269 rs768704726	962	Q>H		No	ClinGen ExAC gnomAD
CA353347255 rs1294938766	963	E>G		No	ClinGen gnomAD
CA2468270 rs779195648	964	F>L		No	ClinGen ExAC TOPMed gnomAD
CA2468273 rs773833425	966	V>A		No	ClinGen ExAC gnomAD
rs772747273 CA2468272	966	V>I		No	ClinGen ExAC TOPMed gnomAD
rs199653368 CA2468278	970	G>R		No	ClinGen ExAC TOPMed gnomAD
rs199653368 CA75445594	970	G>W		No	ClinGen ExAC TOPMed gnomAD
rs762722280 CA2468279	971	A>P		No	ClinGen ExAC gnomAD
CA75445595 rs954246154	972	G>R		No	ClinGen Ensembl
rs1390303574 CA353347326	975	G>E		No	ClinGen TOPMed
rs200345323 CA75445617	978	D>N		No	ClinGen 1000Genomes gnomAD
CA2468285 rs755942189	980	T>I		No	ClinGen ExAC gnomAD
CA353347387 rs1420917085	983	S>N		No	ClinGen gnomAD
rs753564991 CA2468287	985	S>P		No	ClinGen ExAC gnomAD
CA2468289 rs779247120	986	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs150382120 CA2468288	986	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA2468292 rs76471260	989	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs76471260 CA353347468	989	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2468291 rs76471260 RCV000278814	989	V>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000757316 CA2468293 rs747564760	990	P>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA75445652 rs750262364	991	C>W		No	ClinGen Ensembl
CA353347520 rs771326964	994	T>I		No	ClinGen ExAC gnomAD
rs771326964 CA2468294	994	T>K		No	ClinGen ExAC gnomAD
CA353347526 rs1366136585	995	P>S		No	ClinGen TOPMed
CA2468295 rs777118695	997	T>K		No	ClinGen ExAC gnomAD
rs1192408721 CA353347578	998	G>D		No	ClinGen gnomAD
CA2468297 rs755928543	999	R>P		No	ClinGen ExAC TOPMed gnomAD
CA2468298 COSM192840 rs755928543	999	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs746184200 CA2468296	999	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1178934749 CA353347655	1003	T>R		No	ClinGen gnomAD
CA2468301 rs767022262	1004	A>D		No	ClinGen ExAC
CA353347690 rs1350923531	1005	K>N		No	ClinGen gnomAD
CA353347712 rs772654034	1006	F>L		No	ClinGen ExAC TOPMed gnomAD
CA75445683 rs533382927	1007	I>N		No	ClinGen TOPMed gnomAD
CA353347740 rs1393918714	1008	P>S		No	ClinGen TOPMed gnomAD
CA2468304 rs201369608	1009	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs760728571 CA2468303	1009	R>W		No	ClinGen ExAC TOPMed gnomAD
CA2468306 rs754708052	1011	E>A		No	ClinGen ExAC gnomAD
rs753708192 CA2468305	1011	E>K		No	ClinGen ExAC
rs956463790 CA75445705	1012	G>E		No	ClinGen TOPMed gnomAD
CA2468310 rs778055325	1016	V>L		No	ClinGen ExAC gnomAD
CA2468311 rs747054973	1017	D>E		No	ClinGen ExAC TOPMed gnomAD
COSM3824483 COSM3824484 CA353347900 rs1239578740	1019	T>I	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
rs770173477 CA2468315	1021	D>N		No	ClinGen ExAC TOPMed gnomAD
CA353347953 rs1163355961	1022	G>E		No	ClinGen gnomAD
CA75445761 rs1057005655	1022	G>R		No	ClinGen TOPMed gnomAD
rs1576754799 CA353347968	1023	H>P		No	ClinGen Ensembl
rs1333479034 CA353347987	1024	P>L		No	ClinGen TOPMed gnomAD
CA2468317 rs747814541	1024	P>S		No	ClinGen ExAC TOPMed gnomAD
CA75445784 rs367816172	1026	P>A		No	ClinGen ESP
rs771702406 CA2468318	1026	P>L		No	ClinGen ExAC TOPMed gnomAD
CA353348024 rs1021942556	1027	G>R		No	ClinGen gnomAD
CA75445799 rs1021942556	1027	G>W		No	ClinGen gnomAD
rs766389606 CA2468321	1028	S>N		No	ClinGen ExAC
rs776455470 CA2468323	1029	P>A		No	ClinGen ExAC gnomAD
CA2468324 rs765129281	1031	T>I		No	ClinGen ExAC gnomAD
rs748170376 CA75445825	1032	V>A		No	ClinGen Ensembl
rs199930817 CA75445853	1033	E>A		No	ClinGen TOPMed
CA2468325 rs752525780	1035	S>L		No	ClinGen ExAC TOPMed gnomAD
rs752525780 CA353348097	1035	S>W		No	ClinGen ExAC TOPMed gnomAD
CA353348105 rs1473659054	1037	P>S		No	ClinGen TOPMed
rs1484408125 CA353348136	1041	S>R		No	ClinGen gnomAD
CA75445858 rs1049214256	1042	K>E		No	ClinGen TOPMed
CA75447022 rs368084957	1045	A>T		No	ClinGen ESP TOPMed
rs769848930 CA2468341	1048	P>S		No	ClinGen ExAC gnomAD
CA2468343 rs762818490 COSM213668	1049	G>S	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1010340575 CA75447067	1051	E>D		No	ClinGen TOPMed
rs751757179 RCV001346393 CA2468345	1051	E>K		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA353348212 rs1171487410	1052	G>S		No	ClinGen gnomAD
rs9813235 CA2468348 RCV000598522	1055	V>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2468347 rs9813235	1055	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs531172888 CA2468349	1056	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs531172888 CA353348233	1056	G>S		No	ClinGen 1000Genomes ExAC gnomAD
CA2468350 rs13321615	1057	K>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA353348242 rs1429365220	1057	K>R		No	ClinGen gnomAD
CA353348248 rs1274949470	1058	P>H		No	ClinGen gnomAD
rs570950728 CA353348254	1059	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs570950728 COSM1047749 CA2468351	1059	A>V	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA2468353 rs373579468 COSM1593969 COSM1047750	1060	E>K	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1354794727 CA353348267	1061	F>S		No	ClinGen gnomAD
rs746648158 CA2468354	1062	T>A		No	ClinGen ExAC gnomAD
rs199513147 CA2468355	1062	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs374724450 CA2468357	1063	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA2468359 rs775587575	1064	D>N		No	ClinGen ExAC TOPMed gnomAD
CA353348296 rs1476959516	1066	K>E		No	ClinGen TOPMed
CA353348312 rs1193300086	1068	A>G		No	ClinGen gnomAD
CA353348316 rs1381161178	1069	G>C		No	ClinGen gnomAD
rs201533113 CA2468360	1070	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs768338487 CA2468361	1072	G>D		No	ClinGen ExAC gnomAD
rs9832850 CA75447153	1073	L>R		No	ClinGen Ensembl
CA75447147 rs949229728	1073	L>V		No	ClinGen TOPMed
rs1201908812 CA353348349	1075	L>*		No	ClinGen TOPMed
CA2468362 rs774134111	1076	T>M		No	ClinGen ExAC TOPMed gnomAD
CA353348363 rs1323641861	1078	E>K		No	ClinGen TOPMed gnomAD
rs767777654 CA2468364	1080	P>L		No	ClinGen ExAC TOPMed gnomAD
CA353348388 rs760725144	1081	C>*		No	ClinGen ExAC TOPMed gnomAD
CA2468366 rs760725144	1081	C>W		No	ClinGen ExAC TOPMed gnomAD
CA2468368 rs754374081	1082	E>K		No	ClinGen ExAC TOPMed gnomAD
CA2468369 rs755413665	1084	K>Q		No	ClinGen ExAC gnomAD
rs1350556067 CA353348416	1086	E>K		No	ClinGen gnomAD
CA353348429 rs1292094992	1087	C>F		No	ClinGen gnomAD
CA353348433 rs1467145083	1088	S>P		No	ClinGen gnomAD
COSM1593968 COSM1047751 rs369045614 CA2468373	1089	D>N	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA2468374 rs745468660	1090	N>D		No	ClinGen ExAC gnomAD
rs755713308 CA2468375	1090	N>S		No	ClinGen ExAC TOPMed gnomAD
rs779636102 CA2468376	1092	D>N		No	ClinGen ExAC gnomAD
rs372776778 CA2468380	1100	L>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA2468381 rs772236484	1101	P>L		No	ClinGen ExAC gnomAD
CA75447203 rs773448776	1102	T>A		No	ClinGen ExAC TOPMed gnomAD
rs773448776 CA2468382	1102	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1335600592 CA353348524	1103	K>E		No	ClinGen gnomAD
CA2468383 rs760847876	1103	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1333370123 CA353348535	1105	G>R		No	ClinGen gnomAD
rs766451607 CA2468384	1106	E>K		No	ClinGen ExAC gnomAD
rs776636352 CA2468385	1107	Y>N		No	ClinGen ExAC
rs748386931 CA75447266	1108	F>I		No	ClinGen Ensembl
rs200947960 CA2468388	1109	V>I		No	ClinGen ExAC TOPMed gnomAD
rs200947960 CA353348562	1109	V>L		No	ClinGen ExAC TOPMed gnomAD
rs758811267 CA2468389	1111	I>V		No	ClinGen ExAC gnomAD
CA353348608 rs1188035760	1115	E>D		No	ClinGen gnomAD
rs750101142 CA2468391	1115	E>G		No	ClinGen ExAC gnomAD
rs1265414026 CA353348612	1116	V>D		No	ClinGen TOPMed
CA353348610 rs755766713	1116	V>F		No	ClinGen ExAC TOPMed gnomAD
rs755766713 CA2468392	1116	V>I		No	ClinGen ExAC TOPMed gnomAD
CA353348625 rs1215665153	1118	I>T		No	ClinGen gnomAD
CA2468395 rs754914843	1118	I>V		No	ClinGen ExAC gnomAD
rs187686169 CA2468396	1120	G>E		No	ClinGen 1000Genomes ExAC gnomAD
CA2468397 rs747991123	1124	K>I		No	ClinGen ExAC gnomAD
CA2468398 rs147522079	1125	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA353348683 rs1354088443	1127	I>T		No	ClinGen gnomAD
CA353348680 rs1315210312	1127	I>V		No	ClinGen TOPMed gnomAD
CA353348686 rs1373474635	1128	E>K		No	ClinGen TOPMed
rs557548156 CA2468399	1129	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA353348706 rs370774343	1130	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs370774343 CA2468400	1130	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs776730216 CA2468402	1132	D>N		No	ClinGen ExAC gnomAD
rs577704354 CA75447383	1133	P>S		No	ClinGen 1000Genomes gnomAD
rs1344817670 CA353348731	1134	S>C		No	ClinGen TOPMed
CA353348728 rs1456568854	1134	S>P		No	ClinGen TOPMed
CA2468406 rs150475174	1137	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200677231 CA2468408	1139	S>L		No	ClinGen 1000Genomes ExAC gnomAD
rs907678456 CA75447412	1141	P>R		No	ClinGen TOPMed gnomAD
CA2468411 rs753341555	1144	E>D		No	ClinGen ExAC gnomAD
rs199959926 CA2468410	1144	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2468413 rs778250462	1146	G>R		No	ClinGen ExAC TOPMed gnomAD
CA353348813 rs1299274364	1148	V>M		No	ClinGen gnomAD
rs1217532006 CA353348821	1149	G>D		No	ClinGen TOPMed
CA353348836 rs1380554341	1151	A>G		No	ClinGen gnomAD
CA353348837 rs1380554341	1151	A>V		No	ClinGen gnomAD
CA75447443 rs1037493239	1152	G>V		No	ClinGen TOPMed gnomAD
CA2468415 rs372188054	1153	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA2468416 rs777604871	1154	L>F		No	ClinGen ExAC TOPMed gnomAD
CA2468418 rs771189591	1156	V>I		No	ClinGen ExAC gnomAD
CA2468420 rs746036906	1157	D>G		No	ClinGen ExAC gnomAD
CA353348867 rs1131356	1157	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2468419 VAR_017183 rs1131356	1157	D>N		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1131356 CA353348868	1157	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs769279387 CA2468424	1160	E>V		No	ClinGen ExAC TOPMed gnomAD
CA353348907 rs1347443667	1163	P>A		No	ClinGen gnomAD
rs1163015683 CA353348910	1163	P>L		No	ClinGen TOPMed
CA353348919 rs1391621623	1165	A>D		No	ClinGen gnomAD
CA2468428 rs753562279	1165	A>S		No	ClinGen ExAC TOPMed gnomAD
CA353348917 rs753562279	1165	A>T		No	ClinGen ExAC TOPMed gnomAD
CA2468429 rs759044149	1166	L>P		No	ClinGen ExAC gnomAD
CA75447508 rs866833584	1167	G>V		No	ClinGen TOPMed gnomAD
rs764817484 CA353348950	1171	V>I		No	ClinGen ExAC gnomAD
rs764817484 CA2468430	1171	V>L		No	ClinGen ExAC gnomAD
CA2468434 rs201135498 RCV001324129	1173	D>A		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs369887824 CA2468435	1174	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs746111471 CA2468437	1176	T>S		No	ClinGen ExAC gnomAD
VAR_031392 rs17058845 CA2468439	1179	E>K		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs17058845 CA2468440	1179	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs951952880 CA75447549	1181	S>N		No	ClinGen TOPMed
rs1024274524 CA353349032	1184	N>D		No	ClinGen TOPMed gnomAD
rs1024274524 CA75447553	1184	N>Y		No	ClinGen TOPMed gnomAD
rs769338642 CA2468441	1187	D>G		No	ClinGen ExAC gnomAD
rs984752722 CA75447567	1187	D>Y		No	ClinGen Ensembl
CA353349060 rs1369550734	1188	G>S		No	ClinGen gnomAD
rs1463038839 CA353349068	1189	T>A		No	ClinGen gnomAD
rs775024838 CA2468442	1190	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA2468446 rs773392236	1191	A>E		No	ClinGen ExAC TOPMed gnomAD
CA2468444 rs772573480	1191	A>T		No	ClinGen ExAC TOPMed gnomAD
CA2468445 rs773392236	1191	A>V		No	ClinGen ExAC TOPMed gnomAD
rs959065072 CA75447585	1194	Y>F		No	ClinGen gnomAD
CA2468451 rs200993986	1195	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA75447633 rs963229056	1198	T>M		No	ClinGen TOPMed gnomAD
CA353349139 rs1257413920	1201	M>I		No	ClinGen TOPMed gnomAD
rs757128359 CA2468454	1201	M>L		No	ClinGen ExAC gnomAD
rs921714937 CA75447664	1203	T>A		No	ClinGen TOPMed
CA353349158 rs1172727283	1204	L>W		No	ClinGen gnomAD
CA353349166 rs1352982448	1205	T>I		No	ClinGen gnomAD
CA75447679 rs931698971	1206	M>T		No	ClinGen TOPMed
rs780119259 CA2468459	1207	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1227875102 CA353349182	1208	Y>H		No	ClinGen TOPMed
rs376375179 CA2468461	1209	G>S		No	ClinGen ESP ExAC gnomAD
CA2468464 rs773056390	1211	E>D		No	ClinGen ExAC TOPMed gnomAD
COSM1047754 CA2468463 COSM1593965 rs147162135	1211	E>K	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs760397310 CA75447793	1213	V>M		No	ClinGen TOPMed gnomAD
CA75447796 rs1054755870	1215	H>Y		No	ClinGen TOPMed gnomAD
rs1576759018 CA353349234	1216	F>S		No	ClinGen Ensembl
CA353349238 rs1284002405	1217	P>T		No	ClinGen TOPMed
rs370716086 CA353349244	1218	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs370716086 CA2468469	1218	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2468471 rs773833093	1219	R>Q		No	ClinGen ExAC gnomAD
rs763607287 CA2468470	1219	R>W		No	ClinGen ExAC TOPMed gnomAD
CA353349253 rs1188383216	1220	V>F		No	ClinGen gnomAD
CA2468472 RCV000484723 rs537630384	1221	K>E		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA353349262 rs1409651611	1221	K>N		No	ClinGen gnomAD
CA75447866 rs372997149	1224	P>L		No	ClinGen ESP TOPMed gnomAD
rs371610564 CA75447868	1225	A>P		No	ClinGen ExAC TOPMed gnomAD
rs371610564 CA2468475	1225	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1576759123 CA353349291	1226	V>G		No	ClinGen Ensembl
rs754121842 CA2468477	1226	V>M		No	ClinGen ExAC TOPMed gnomAD
CA353349309 rs1359385934	1229	S>N		No	ClinGen gnomAD
CA2468479 rs779191977	1230	R>M		No	ClinGen ExAC gnomAD
rs748234943 CA2468480	1230	R>S		No	ClinGen ExAC gnomAD
CA2468481 rs758986196	1231	I>V		No	ClinGen ExAC gnomAD
rs747507752 CA2468483	1235	G>R		No	ClinGen ExAC gnomAD
CA353349356 rs1218001926	1236	P>Q		No	ClinGen TOPMed gnomAD
CA75447885 rs909800328	1236	P>T		No	ClinGen Ensembl
rs771200435 CA2468484	1237	G>A		No	ClinGen ExAC gnomAD
CA353349358 rs1186975489	1237	G>R		No	ClinGen Ensembl
rs771200435 CA353349361	1237	G>V		No	ClinGen ExAC gnomAD
rs1490630401 CA353349365	1238	I>K		No	ClinGen Ensembl
rs776918962 CA2468485	1239	E>K		No	ClinGen ExAC gnomAD
rs776918962 CA353349370	1239	E>Q		No	ClinGen ExAC gnomAD
CA2468486 rs748994086	1242	D>Y		No	ClinGen ExAC gnomAD
CA75448408 rs909184122	1243	V>M		No	ClinGen Ensembl
CA2468522 COSM1424937 rs776611311 COSM1424936	1245	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA2468521 rs371186570	1245	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs759385132 CA2468523	1246	E>A		No	ClinGen ExAC gnomAD
CA2468524 rs765077949	1248	T>I		No	ClinGen ExAC gnomAD
CA353349442 rs1233948200	1249	T>A		No	ClinGen gnomAD
CA2468527 rs764134582	1250	D>E		No	ClinGen ExAC TOPMed gnomAD
CA2468526 rs763174083	1250	D>N		No	ClinGen ExAC TOPMed gnomAD
CA2468529 rs757744528	1252	T>S		No	ClinGen ExAC gnomAD
rs1176515724 CA353349479	1254	D>E		No	ClinGen gnomAD
rs148506076 CA2468533	1256	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000658965 CA2468532 rs148506076	1256	R>Q		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA2468530 rs139944866	1256	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs199760437 CA2468534	1257	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs777219769 CA2468536	1258	L>R		No	ClinGen ExAC gnomAD
CA2468537 rs746500238	1260	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA75448463 rs916150026	1261	V>G		No	ClinGen TOPMed
CA2468539 rs111330368	1262	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA353349517 rs111330368	1262	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV001302802 CA2468538 rs139932035	1262	G>R		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1017971561 CA75448484	1263	G>D		No	ClinGen gnomAD
rs769722241 CA2468541	1263	G>S		No	ClinGen ExAC TOPMed gnomAD
CA353349522 COSM584429 rs1017971561 COSM1143371	1263	G>V	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA353349557 rs976223666	1268	A>D		No	ClinGen gnomAD
CA75448492 rs976223666	1268	A>V		No	ClinGen gnomAD
rs199568506 CA75448502	1269	H>P		No	ClinGen Ensembl
rs764346451 CA2468544	1270	I>N		No	ClinGen ExAC gnomAD
rs1267563736 CA353349566	1270	I>V		No	ClinGen TOPMed
rs774342783 CA2468545	1271	A>D		No	ClinGen ExAC gnomAD
CA353349571 rs1304457252	1271	A>T		No	ClinGen gnomAD
rs1030463034 CA75448511	1272	N>K		No	ClinGen TOPMed gnomAD
CA353349580 rs1341761710	1272	N>S		No	ClinGen TOPMed gnomAD
rs199912711 RCV000731905 CA2468546	1276	A>S		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA75448515 rs199912711	1276	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs145893136 CA2468547	1276	A>V		No	ClinGen ESP ExAC gnomAD
rs750935162 CA2468548	1277	S>A		No	ClinGen ExAC gnomAD
rs375854804 CA2468549	1277	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA75448582 rs983695359	1279	E>K		No	ClinGen TOPMed gnomAD
rs942004116 CA75448624	1282	V>A		No	ClinGen Ensembl
rs758030883 CA2468552	1282	V>L		No	ClinGen ExAC gnomAD
CA2468553 rs777463221	1283	T>I		No	ClinGen ExAC TOPMed gnomAD
CA2468555 rs756861578	1284	D>G		No	ClinGen ExAC gnomAD
CA2468556 rs780788300	1285	N>S		No	ClinGen ExAC gnomAD
rs62621997 CA353349662	1286	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA75448653 rs62621997	1286	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2468557 rs745854879	1286	A>T		No	ClinGen ExAC gnomAD
rs768285627 CA2468561	1289	T>N		No	ClinGen ExAC gnomAD
CA2468563 rs574189101	1291	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
CA2468562 rs774664116	1291	Q>K		No	ClinGen ExAC TOPMed
rs767600520 CA2468564	1292	V>M		No	ClinGen ExAC gnomAD
rs773268097 CA2468565	1293	E>K		No	ClinGen ExAC gnomAD
rs1484680788 CA353349708	1294	Y>N		No	ClinGen gnomAD
rs201159546 CA2468566	1295	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA75448730 rs879092580	1295	T>I		No	ClinGen Ensembl
CA2468567 rs148350434	1296	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA353349731 rs1190501108	1297	F>L		No	ClinGen gnomAD
rs754207543 CA2468568	1298	E>G		No	ClinGen ExAC gnomAD
rs983087808 CA75449657	1301	L>H		No	ClinGen Ensembl
CA353349773 rs1255500278	1302	H>R		No	ClinGen TOPMed
rs990121771 CA75449663	1303	V>I		No	ClinGen TOPMed
CA2468602 rs548108800	1311	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2468601 RCV001058435 rs548108800	1311	V>M		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001345247 rs374928471 CA2468603	1312	P>S		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA2468604 rs771051376	1313	I>T		No	ClinGen ExAC gnomAD
rs368313408 CA2468605	1315	N>S		No	ClinGen ESP ExAC gnomAD
CA2468606 rs760153503	1318	F>L		No	ClinGen ExAC TOPMed gnomAD
CA75449707 rs915665255	1319	K>E		No	ClinGen TOPMed gnomAD
CA75449709 rs948416578	1319	K>N		No	ClinGen Ensembl
rs1226621793 CA353349889	1320	V>M		No	ClinGen TOPMed gnomAD
rs770165903 CA2468607	1321	A>S		No	ClinGen ExAC gnomAD
rs776043283 CA2468608	1321	A>V		No	ClinGen ExAC TOPMed gnomAD
rs371848559 CA75449727	1322	V>I		No	ClinGen ESP TOPMed
RCV000729126 rs202156074 CA2468609	1323	T>S		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA353349908 rs1255789653 COSM350912	1324	E>K	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs374307701 CA75449750	1325	G>S		No	ClinGen ESP TOPMed gnomAD
rs1484291984 CA353349920	1325	G>V		No	ClinGen TOPMed
rs1375403160 CA353349926	1326	C>F		No	ClinGen gnomAD
rs1375403160 CA353349924	1326	C>Y		No	ClinGen gnomAD
CA2468611 rs750103089	1327	Q>*		No	ClinGen ExAC gnomAD
CA2468613 rs765973664	1328	P>S		No	ClinGen ExAC TOPMed gnomAD
rs377136340 CA75449787	1330	R>G		No	ClinGen Ensembl
rs767618168 CA2468615	1336	P>T		No	ClinGen ExAC gnomAD
CA353350009 rs1253515687	1339	K>R		No	ClinGen gnomAD
CA2468616 rs139269734	1341	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA75449797 rs892500905	1344	N>Y		No	ClinGen Ensembl
CA2468618 rs758224122	1346	P>S		No	ClinGen ExAC gnomAD
rs747248186 CA2468621	1347	N>K		No	ClinGen ExAC TOPMed gnomAD
rs899942617 CA75449825	1348	V>D		No	ClinGen TOPMed gnomAD
rs776172010 CA2468625	1351	V>A		No	ClinGen ExAC gnomAD
CA75449835 rs1029522759	1351	V>M		No	ClinGen gnomAD
rs955371617 CA75449880	1352	V>F		No	ClinGen gnomAD
rs955371617 CA353350089	1352	V>L		No	ClinGen gnomAD
rs142718547 CA2468627	1353	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs774841298 CA2468628	1354	R>T		No	ClinGen ExAC gnomAD
rs764743602 CA2468653	1356	A>P		No	ClinGen ExAC TOPMed gnomAD
rs764743602 CA2468652 RCV000425923	1356	A>T		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1301245588 CA353350129	1357	G>E		No	ClinGen TOPMed
CA353350134 rs1575432597	1358	I>V		No	ClinGen Ensembl
rs762916176 CA2468654	1359	G>D		No	ClinGen ExAC
CA353350146 rs1217783074	1360	G>E		No	ClinGen TOPMed
rs763995423 CA2468655	1360	G>R		No	ClinGen ExAC gnomAD
rs751461717 CA2468656	1361	L>P		No	ClinGen ExAC gnomAD
rs757031494 CA2468657	1362	G>S		No	ClinGen ExAC gnomAD
rs767274844 CA2468658	1363	I>T		No	ClinGen ExAC
CA353350160 rs1187690035	1363	I>V		No	ClinGen gnomAD
CA2468659 rs750624620	1364	T>I		No	ClinGen ExAC gnomAD
CA2468661 rs780346723	1366	E>Q		No	ClinGen ExAC gnomAD
CA75450521 rs1052625112	1368	P>L		No	ClinGen TOPMed
rs753939290 CA2468662	1371	S>L		No	ClinGen ExAC TOPMed gnomAD
CA2468664 rs779310027	1373	I>V		No	ClinGen ExAC gnomAD
CA353350240 rs1356322142	1375	C>F		No	ClinGen gnomAD
CA353350243 rs1326980504	1376	R>G		No	ClinGen gnomAD
CA353350259 rs1434800364	1378	N>D		No	ClinGen gnomAD
CA353350258 rs1434800364	1378	N>H		No	ClinGen gnomAD
rs1274728782 CA353350263	1378	N>S		No	ClinGen gnomAD
rs1274582913 CA353350270	1379	K>R		No	ClinGen gnomAD
rs1326469244 CA353350275	1380	D>N		No	ClinGen gnomAD
rs1035789036 CA75450572	1382	S>N		No	ClinGen Ensembl
rs1225509466 CA353350288	1382	S>R		No	ClinGen gnomAD
CA75450586 rs752941246	1385	A>S		No	ClinGen TOPMed
rs1266384574 CA353350332	1388	I>L		No	ClinGen TOPMed gnomAD
CA353350338 rs377650314	1388	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA353350333 rs1266384574	1388	I>V		No	ClinGen TOPMed gnomAD
rs1214485010 CA353350340	1389	P>A		No	ClinGen gnomAD
CA75450590 rs946886580	1389	P>L		No	ClinGen TOPMed gnomAD
rs769402488 CA2468669	1391	A>T		No	ClinGen ExAC TOPMed gnomAD
CA2468670 rs151002497	1391	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA2468672 rs182296960	1392	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA75450619 rs968400677	1392	P>T		No	ClinGen TOPMed
rs1281492558 CA353350364	1393	G>A		No	ClinGen TOPMed
rs767271335 CA2468675	1394	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1392458200 CA353350370	1394	D>V		No	ClinGen gnomAD
CA2468677 rs373754367	1395	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA75450660 rs766688604	1396	D>H		No	ClinGen ExAC TOPMed gnomAD
CA2468678 rs766688604	1396	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1336865273 CA353350401	1399	I>V		No	ClinGen gnomAD
CA2468679 rs754064871	1400	T>I		No	ClinGen ExAC gnomAD
CA75450677 rs558751296	1402	G>E		No	ClinGen Ensembl
CA353350435 rs1377817325	1404	A>G		No	ClinGen TOPMed
CA353350437 rs1300954475	1405	H>N		No	ClinGen TOPMed
rs778070370 CA2468684	1407	P>L		No	ClinGen ExAC
rs186956439 CA2468686	1408	G>S		No	ClinGen 1000Genomes ExAC gnomAD
rs757620727 CA2468705	1410	P>S		No	ClinGen ExAC gnomAD
rs143831841 CA2468706	1411	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA353350499 rs1451663004	1412	R>S		No	ClinGen gnomAD
rs998532926 CA75453373	1412	R>T		No	ClinGen TOPMed
rs1167160441 CA353350502	1413	V>F		No	ClinGen gnomAD
rs1239542219 CA353350512	1415	V>M		No	ClinGen TOPMed
rs1435963101 CA353350519	1416	K>E		No	ClinGen gnomAD
CA75453393 rs1054087569	1416	K>T		No	ClinGen TOPMed gnomAD
CA353350530 rs1314647150	1417	D>V		No	ClinGen TOPMed
rs892797845 CA75453400	1421	P>L		No	ClinGen TOPMed
CA2468707 rs538688459	1422	S>N		No	ClinGen 1000Genomes ExAC gnomAD
rs1013214687 CA75453415	1426	I>T		No	ClinGen TOPMed
CA353350593 rs1319183304	1427	A>T		No	ClinGen gnomAD
rs866334827 CA75453418 COSM244555	1427	A>V	prostate [Cosmic]	No	ClinGen cosmic curated Ensembl
rs747673269 CA2468710	1428	G>S		No	ClinGen ExAC TOPMed gnomAD
rs771435214 CA2468711	1429	P>L		No	ClinGen ExAC TOPMed gnomAD
CA353350606 rs1383469536	1429	P>S		No	ClinGen TOPMed
CA2468713 rs779999799	1430	G>R		No	ClinGen ExAC TOPMed gnomAD
CA2468714 rs200297468	1432	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs113625188 CA353350619	1432	G>R		No	ClinGen gnomAD
rs113625188 CA75453472	1432	G>S		No	ClinGen gnomAD
rs142764838 CA75453473	1433	S>L		No	ClinGen ESP TOPMed
rs536769087 CA2468717	1435	V>I		No	ClinGen ExAC TOPMed gnomAD
CA2468718 rs536769087	1435	V>L		No	ClinGen ExAC TOPMed gnomAD
CA2468720 rs764011350	1436	R>*		No	ClinGen ExAC TOPMed gnomAD
CA2468721 rs764011350	1436	R>G		No	ClinGen ExAC TOPMed gnomAD
rs140018418 CA2468722 COSM1047756 COSM1593964	1436	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1376465311 CA353350775	1438	R>C		No	ClinGen TOPMed gnomAD
rs199590811 CA2468723	1438	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199590811 CA353350777	1438	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA353350778 rs1375163122	1439	V>I		No	ClinGen gnomAD
rs750755443 CA2468724	1440	L>V		No	ClinGen ExAC gnomAD
CA2468726 rs778651433	1442	S>F		No	ClinGen ExAC TOPMed gnomAD
CA2468728 rs372181766	1443	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs910432633 CA75455290	1447	S>R		No	ClinGen TOPMed
rs1329318214 CA353350852	1450	A>P		No	ClinGen gnomAD
rs368730832 CA2468730	1451	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1330763593 CA353350865	1452	L>Q		No	ClinGen gnomAD
rs555120260 CA75455340	1454	P>L		No	ClinGen gnomAD
rs1575437982 CA353350895	1457	V>G		No	ClinGen Ensembl
CA353350890 rs1390286258	1457	V>L		No	ClinGen TOPMed gnomAD
rs1390286258 CA353350892	1457	V>M		No	ClinGen TOPMed gnomAD
CA75455359 rs573339079	1459	V>F		No	ClinGen Ensembl
CA353350916 rs1433180721	1461	G>D		No	ClinGen gnomAD
CA2468736 rs373821754	1463	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs200849899 CA2468737	1463	R>Q		No	ClinGen ExAC gnomAD
rs1158650879 CA353350929	1464	G>R		No	ClinGen gnomAD
rs1158650879 CA353350928	1464	G>S		No	ClinGen gnomAD
CA353351166 rs886044175	1464	G>V		No	ClinGen TOPMed
rs377463989 CA353351175	1466	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs377463989 CA2468767	1466	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA353351192 rs1278090189	1468	P>L		No	ClinGen TOPMed gnomAD
CA75456843 RCV001001113 rs988254831	1468	P>S		No	ClinGen ClinVar TOPMed dbSNP
CA353351202 rs1210750349	1470	N>S		No	ClinGen gnomAD
rs1397938000 CA353351211	1471	V>A		No	ClinGen gnomAD
rs12632456 CA353351208	1471	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV001002412 CA353351207 rs12632456	1471	V>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA353351222 rs1188933982	1473	D>E		No	ClinGen gnomAD
CA2468772 rs779137704	1473	D>G		No	ClinGen ExAC gnomAD
rs1247179097 CA353351217	1473	D>N		No	ClinGen TOPMed gnomAD
CA353351228 rs1427922191	1474	N>S		No	ClinGen gnomAD
rs1575440336 CA353351237	1475	G>V		No	ClinGen Ensembl
CA2468773 rs150947880	1476	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA353351256 rs1236204178	1478	T>I		No	ClinGen TOPMed gnomAD
rs201292963 CA2468774	1480	T>P		No	ClinGen ExAC TOPMed gnomAD
CA75456916 rs563226585	1481	V>I		No	ClinGen Ensembl
rs1324667271 CA353351279	1482	T>N		No	ClinGen gnomAD
rs761314309 CA2468776	1483	Y>H		No	ClinGen ExAC gnomAD
CA2468778 rs777106361	1484	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1440191937 CA353351431	1486	S>C		No	ClinGen TOPMed
rs577012986 CA2468779	1487	Q>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1230330528 CA353351453	1489	G>E		No	ClinGen gnomAD
CA353351456 rs1328792757	1490	P>S		No	ClinGen gnomAD
rs961423763 CA75456962	1491	Y>S		No	ClinGen Ensembl
rs774156029 CA2468781	1492	M>I		No	ClinGen ExAC gnomAD
CA2468780 rs765627132	1492	M>V		No	ClinGen ExAC TOPMed gnomAD
CA353351474 rs1484091821	1493	V>I		No	ClinGen TOPMed
CA353351485 rs1219204916	1494	S>L		No	ClinGen gnomAD
CA2468786 rs150445941	1499	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1353273128 CA353351532	1501	E>A		No	ClinGen TOPMed
rs753735147 CA2468787	1503	P>S		No	ClinGen ExAC gnomAD
CA353351551 rs1416322993	1504	R>C		No	ClinGen gnomAD
CA2468788 COSM275189 rs111498181	1504	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs111498181 CA2468789	1504	R>L		No	ClinGen 1000Genomes ExAC gnomAD
CA75457018 rs111498181	1504	R>P		No	ClinGen 1000Genomes ExAC gnomAD
rs753788259 CA2468812	1505	S>R		No	ClinGen ExAC gnomAD
rs765086454 CA2468814	1507	F>S		No	ClinGen ExAC TOPMed gnomAD
rs752461629 CA353351587	1508	K>M		No	ClinGen ExAC TOPMed gnomAD
CA353351589 rs758698738	1508	K>N		No	ClinGen ExAC gnomAD
CA2468815 rs752461629	1508	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1200583615 CA353351593	1509	V>F		No	ClinGen gnomAD
rs937679695 CA75458379	1511	V>G		No	ClinGen TOPMed
CA2468817 rs777883812	1513	P>R		No	ClinGen ExAC gnomAD
rs369947461 CA353351622	1514	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs369947461 CA2468818	1514	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs781315781 CA2468820	1516	D>E		No	ClinGen ExAC gnomAD
rs184586811 CA2468819	1516	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA75458421 rs372940610	1517	A>V		No	ClinGen ESP TOPMed gnomAD
CA353351674 rs201509521	1522	A>S		No	ClinGen 1000Genomes gnomAD
CA75458426 rs201509521	1522	A>T		No	ClinGen 1000Genomes gnomAD
rs910146018 CA75458442	1526	G>S		No	ClinGen TOPMed
CA353351711 rs1174433552	1528	S>G		No	ClinGen gnomAD
rs141477764 CA353351728	1530	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA2468823 rs776043627	1530	Y>C		No	ClinGen ExAC gnomAD
rs1400331949 CA353351723	1530	Y>H		No	ClinGen gnomAD
CA353351730 rs1365574077	1531	G>R		No	ClinGen gnomAD
CA353351735 rs1442568329	1532	V>M		No	ClinGen TOPMed gnomAD
rs200618652 CA75458502	1533	P>S		No	ClinGen 1000Genomes gnomAD
CA353351775 rs1342274063	1538	V>A		No	ClinGen gnomAD
CA2468826 rs772744361	1538	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1318147025 CA353351779	1539	D>A		No	ClinGen TOPMed gnomAD
CA353351810 rs1575443037	1543	D>V		No	ClinGen Ensembl
CA2468827 rs760317090	1545	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA75458518 rs375808451	1546	D>G		No	ClinGen ESP TOPMed gnomAD
rs996168216 CA75458535	1547	A>T		No	ClinGen TOPMed
CA2468830 rs372932282	1548	G>R		No	ClinGen ESP ExAC gnomAD
CA353351848 rs1161250155	1550	G>S		No	ClinGen TOPMed
CA2468831 rs200349286	1557	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA2468849 rs776170500	1563	P>S		No	ClinGen ExAC gnomAD
rs759071724 CA2468850	1565	R>G		No	ClinGen ExAC gnomAD
rs1247503754 CA353351975	1567	I>T		No	ClinGen gnomAD
rs775414570 CA2468852	1568	V>A		No	ClinGen ExAC gnomAD
rs149341650 CA2468851	1568	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA353352002 rs1416068541	1571	N>S		No	ClinGen TOPMed
CA75459512 RCV000507279 rs373528171	1573	D>N		No	ClinGen ClinVar ESP TOPMed dbSNP gnomAD
CA75459530 RCV001091097 rs776237096	1575	T>M		No	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000520108 rs148101195 CA2468855	1577	A>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2468856 rs761987579	1582	P>L		No	ClinGen ExAC gnomAD
CA353352091 rs1231091518	1584	K>N		No	ClinGen TOPMed
rs750632471 CA2468858	1584	K>R		No	ClinGen ExAC TOPMed gnomAD
CA353352105 rs1383300466 RCV000722183	1587	R>C		No	ClinGen ClinVar TOPMed dbSNP gnomAD
COSM1670295 COSM1670296 CA2468859 rs756266678	1587	R>H	prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA353352106 rs756266678	1587	R>L		No	ClinGen ExAC TOPMed gnomAD
CA353352103 rs1383300466	1587	R>S		No	ClinGen TOPMed gnomAD
rs1371800279 CA353352130	1590	I>M		No	ClinGen gnomAD
rs2097315324 RCV001303641	1590	I>T		No	ClinVar dbSNP
CA353352133 rs1462585788	1591	G>*		No	ClinGen gnomAD
rs1460056215 CA353352135	1591	G>A		No	ClinGen TOPMed gnomAD
rs1460056215 CA353352134	1591	G>E		No	ClinGen TOPMed gnomAD
CA2468861 rs754360853	1592	V>I		No	ClinGen ExAC TOPMed gnomAD
rs147203140 CA2468864	1595	G>E		No	ClinGen ESP ExAC TOPMed
rs1313444262 CA353352155	1595	G>R		No	ClinGen gnomAD
rs911988856 CA75459583	1596	G>A		No	ClinGen TOPMed
rs775231905 CA2468866	1598	D>N		No	ClinGen ExAC TOPMed gnomAD
rs775231905 CA75459609	1598	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs745461413 CA2468867	1605	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2468868 rs201630300	1605	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs774972522 CA2468869	1606	I>M		No	ClinGen ExAC gnomAD
CA353352225 rs1575444578	1606	I>T		No	ClinGen Ensembl
rs80356520 CA2468870	1607	R>G	Spondylocarpotarsal synostosis syndrome (sct) [Ensembl]	No	ClinGen ExAC gnomAD
CA2468871 rs774105587	1607	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs369022607 CA75459692	1608	A>V		No	ClinGen ESP TOPMed gnomAD
CA2468873 rs767353758	1611	T>A		No	ClinGen ExAC gnomAD
CA2468874 rs547507630	1611	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA75459722 rs369852921	1618	L>V		No	ClinGen gnomAD
CA2468877 rs753946814 COSM3427806 COSM3427807	1620	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs747433192 CA75461400	1625	A>V		No	ClinGen TOPMed
rs753394720 CA2468905	1628	V>A		No	ClinGen ExAC gnomAD
rs768316224 CA75461425	1632	E>K		No	ClinGen TOPMed gnomAD
rs768316224 CA353352589	1632	E>Q		No	ClinGen TOPMed gnomAD
CA2468907 rs778264831	1633	E>K		No	ClinGen ExAC gnomAD
CA2468908 rs139046903	1635	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1159952920 CA353352650	1636	F>Y		No	ClinGen gnomAD
CA353352738 rs1166051018	1641	K>N		No	ClinGen gnomAD
CA353352739 rs1166051018	1641	K>N		No	ClinGen gnomAD
rs1038987694 CA75461449	1644	G>R		No	ClinGen TOPMed
CA2468912 rs572777962	1645	K>E		No	ClinGen 1000Genomes ExAC gnomAD
CA353352788 rs541710558	1645	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs541710558 CA2468913	1645	K>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769962026 CA2468915	1649	T>A		No	ClinGen ExAC gnomAD
CA353352854 rs1348215513	1649	T>N		No	ClinGen gnomAD
COSM3380671 COSM3380670 CA353352888 rs1290465536	1651	T>M	pancreas [Cosmic]	No	ClinGen cosmic curated gnomAD
CA2468916 rs775547398	1651	T>S		No	ClinGen ExAC TOPMed gnomAD
rs561290827 CA2468918	1654	T>S		No	ClinGen 1000Genomes ExAC gnomAD
CA75461518 rs201848913	1656	D>G		No	ClinGen 1000Genomes
CA2468919 rs574654024	1656	D>H		No	ClinGen 1000Genomes ExAC gnomAD
rs1262947965 CA353352950	1657	G>D		No	ClinGen TOPMed
CA353352953 rs1230848798	1658	T>A		No	ClinGen TOPMed gnomAD
CA353352955 rs1230848798	1658	T>S		No	ClinGen TOPMed gnomAD
rs754555151 CA2468923	1661	E>A		No	ClinGen ExAC gnomAD
rs1411751945 CA353353004	1663	D>E		No	ClinGen gnomAD
rs141342605 CA2468925	1663	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA353353015 rs1319546492	1665	I>T		No	ClinGen TOPMed
rs1335437574 CA353353067	1672	Y>C		No	ClinGen gnomAD
rs1159024100 CA353353129	1681	P>A		No	ClinGen TOPMed
rs780823510 CA2468931	1681	P>L		No	ClinGen ExAC TOPMed gnomAD
rs769899141 CA2468932	1683	T>S		No	ClinGen ExAC gnomAD
rs376280025 CA2468933	1684	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs768685051 CA2468935	1686	I>S		No	ClinGen ExAC gnomAD
CA2468934 rs763028722	1686	I>V		No	ClinGen ExAC gnomAD
rs774862180 CA2468936	1687	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs1445316177 CA353353162	1687	Y>S		No	ClinGen TOPMed
rs762205881 CA2468937	1689	R>C		No	ClinGen ExAC gnomAD
rs139001404 CA75461654	1689	R>H		No	ClinGen ESP TOPMed
CA2468939 rs750748530	1693	V>D		No	ClinGen ExAC TOPMed gnomAD
rs369988979 CA75461659	1693	V>L		No	ClinGen Ensembl
rs764808802 CA2468941	1701	T>A		No	ClinGen ExAC gnomAD
rs1316168433 CA353353296	1706	D>N		No	ClinGen TOPMed gnomAD
rs1316168433 CA353353298	1706	D>Y		No	ClinGen TOPMed gnomAD
rs1284770612 CA353353330	1711	A>T		No	ClinGen gnomAD
CA2468962 rs775301671	1712	V>A		No	ClinGen ExAC gnomAD
CA2468961 rs138141099	1712	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA75464229 rs948993563	1713	E>D		No	ClinGen TOPMed
rs1200419795 CA353353346	1714	E>K		No	ClinGen Ensembl
CA2468963 RCV001002273 rs201370865	1716	P>L		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs994974763 CA353353375	1718	N>I		No	ClinGen TOPMed
CA75464238 COSM3427809 COSM3427808 rs994974763	1718	N>T	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA353353373 rs1575451159	1718	N>Y		No	ClinGen Ensembl
rs1452233667 CA353353393	1721	P>A		No	ClinGen gnomAD
COSM108623 rs147832139 CA75464272	1723	G>R	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA2468968 rs767365016	1724	F>Y		No	ClinGen ExAC gnomAD
rs750338538 CA2468969	1725	R>K		No	ClinGen ExAC TOPMed gnomAD
rs761263618 CA2468986	1730	E>D		No	ClinGen ExAC gnomAD
CA2468985 COSM3427811 COSM3427810 rs773991765	1730	E>K	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA2468987 rs767007063	1732	A>D		No	ClinGen ExAC gnomAD
CA2468988 rs375336910	1733	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs754709630 CA2468992	1736	V>G		No	ClinGen ExAC gnomAD
CA353353499 rs1375131432	1736	V>M		No	ClinGen gnomAD
CA2468993 rs779112351	1737	S>N		No	ClinGen ExAC gnomAD
CA2468994 rs752921490	1738	D>E		No	ClinGen ExAC TOPMed gnomAD
CA2468995 rs758429574	1739	M>I		No	ClinGen ExAC TOPMed gnomAD
rs961859965 CA75464987	1741	G>A		No	ClinGen TOPMed
CA2468997 rs747508578	1741	G>S		No	ClinGen ExAC gnomAD
rs1253289025 CA353353545	1743	G>R		No	ClinGen gnomAD
CA2468998 rs551541853	1745	K>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA353353565 rs1249474097	1746	P>A		No	ClinGen gnomAD
CA353353577 rs1445052743	1747	F>L		No	ClinGen gnomAD
CA2469001 rs770248489	1748	D>G		No	ClinGen ExAC gnomAD
CA2469000 rs371191222	1748	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1261971364 CA353353584	1749	L>M		No	ClinGen TOPMed
CA353353596 rs1215893351	1751	I>V		No	ClinGen TOPMed
CA353353602 rs1170619046	1752	P>S		No	ClinGen gnomAD
RCV000202806 CA249004 RCV002057042 rs761508385	1753	F>C		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1575452280 CA353353620	1754	A>G		No	ClinGen Ensembl
CA2469003 rs771523275	1755	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1454958032 CA353353641	1758	G>R		No	ClinGen gnomAD
CA75465030 rs910774058	1761	T>N		No	ClinGen TOPMed
rs866375898 CA75465507	1762	G>E		No	ClinGen Ensembl
rs1192384434 CA353353741	1764	V>I		No	ClinGen TOPMed gnomAD
CA2469029 rs763138719	1765	H>L		No	ClinGen ExAC gnomAD
CA2469030 rs764387448	1766	M>V		No	ClinGen ExAC gnomAD
rs75392388 CA75465574	1771	T>A		No	ClinGen TOPMed
rs1428980287 CA353353824	1771	T>I		No	ClinGen gnomAD
CA75465573 rs75392388	1771	T>P		No	ClinGen TOPMed
CA75465578 rs369688883	1773	T>A		No	ClinGen ESP TOPMed
CA2469032 rs757439107	1773	T>I		No	ClinGen ExAC gnomAD
rs756641800 CA2469035	1777	V>M		No	ClinGen ExAC gnomAD
CA2469036 rs780342968	1778	D>N		No	ClinGen ExAC gnomAD
rs1403268319 CA353353934	1779	N>K		No	ClinGen TOPMed gnomAD
CA353353951 rs1366612114	1781	D>N		No	ClinGen gnomAD
rs755230369 CA2469038	1782	G>S		No	ClinGen ExAC gnomAD
CA353353982 rs189785975	1783	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2469039 rs189785975	1783	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA353353992 rs1474317803	1784	V>D		No	ClinGen gnomAD
rs1291783484 CA353353990	1784	V>F		No	ClinGen TOPMed gnomAD
rs1474317803 CA353353995	1784	V>G		No	ClinGen gnomAD
CA353354023 rs1490706102	1787	R>T		No	ClinGen TOPMed gnomAD
CA353354030 rs1196774923	1788	Y>H		No	ClinGen gnomAD
CA353354044 rs1245819595	1789	A>D		No	ClinGen gnomAD
rs940768096 CA75465625	1792	E>K		No	ClinGen gnomAD
RCV001869012 RCV000735862 rs1470699812	1792	E>missing		No	ClinVar dbSNP
rs897772398 CA353354068	1793	V>A		No	ClinGen TOPMed gnomAD
rs897772398 CA75465629	1793	V>G		No	ClinGen TOPMed gnomAD
CA2469041 COSM3781680 COSM3781681 rs149600652	1794	G>R	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs776084940 CA2469042	1795	L>V		No	ClinGen ExAC gnomAD
rs745869601 CA2469043	1796	H>R		No	ClinGen ExAC gnomAD
rs1422850100 CA353354097	1797	E>K		No	ClinGen TOPMed gnomAD
rs1231523955 CA353354120	1798	M>I		No	ClinGen TOPMed
rs769753531 CA2469044	1798	M>V		No	ClinGen ExAC TOPMed gnomAD
CA353354128 rs1355398985	1799	H>Y		No	ClinGen gnomAD
CA353354169 rs1207064888	1802	Y>D		No	ClinGen TOPMed
rs762841347 CA2469046	1803	M>I		No	ClinGen ExAC gnomAD
rs200677473 CA2469045	1803	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1281010884 CA353354188	1803	M>T		No	ClinGen TOPMed gnomAD
CA2469048 rs774765550	1804	G>A		No	ClinGen ExAC gnomAD
CA2469047 rs142786097	1804	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs534706890 RCV001351970 CA2469049	1805	S>N		No	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
CA353354568 rs1575456504	1812	L>F		No	ClinGen Ensembl
CA2469074 rs753042502	1812	L>P		No	ClinGen ExAC
CA2469077 rs749998267	1813	Q>*		No	ClinGen ExAC TOPMed
CA353354591 rs1176965992	1815	Y>F		No	ClinGen gnomAD
rs1064796797 CA16618006 RCV000486409	1818	Y>*		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA2469079 rs749317362	1819	P>S		No	ClinGen ExAC gnomAD
CA2469080 rs768702826	1822	G>E		No	ClinGen ExAC gnomAD
rs1559727736 CA353354636	1822	G>R		No	ClinGen Ensembl
rs936652472 CA75467526	1823	S>R		No	ClinGen Ensembl
rs1268036129 CA353354659	1825	S>F		No	ClinGen gnomAD
CA353354663 rs1316979815	1826	A>V		No	ClinGen gnomAD
CA353354666 rs1367402585	1827	Y>H		No	ClinGen TOPMed
rs1192269277 CA353354674	1828	G>S		No	ClinGen gnomAD
rs1559727784 CA353354685	1829	P>L		No	ClinGen Ensembl
CA2469082 rs747963108	1832	V>M		No	ClinGen ExAC gnomAD
CA75467544 rs199964133	1836	A>S		No	ClinGen ExAC TOPMed gnomAD
CA2469083 rs199964133	1836	A>T		No	ClinGen ExAC TOPMed gnomAD
rs773505114 CA2469084	1837	N>S		No	ClinGen ExAC TOPMed gnomAD
CA353354752 rs1559727823	1840	A>V		No	ClinGen Ensembl
CA2469086 rs771082269	1841	T>A		No	ClinGen ExAC gnomAD
rs575434109 CA2469090	1845	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1385636979 CA353354798	1848	D>N		No	ClinGen TOPMed gnomAD
rs1265082147 CA353354802	1848	D>V		No	ClinGen TOPMed
CA353354840 rs1483110162	1852	G>D		No	ClinGen Ensembl
rs559778692 CA2469112	1854	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs754559350 CA2469115	1858	I>V		No	ClinGen ExAC gnomAD
rs75863312 CA75468399	1859	E>*		No	ClinGen Ensembl
rs764816305 CA2469116	1861	P>S		No	ClinGen ExAC gnomAD
CA2469117 rs752719887	1866	I>V		No	ClinGen ExAC TOPMed gnomAD
rs758406599 CA353354951	1869	I>N		No	ClinGen ExAC TOPMed gnomAD
rs758406599 CA2469118	1869	I>T		No	ClinGen ExAC TOPMed gnomAD
CA2469120 rs746791035	1870	D>G		No	ClinGen ExAC TOPMed gnomAD
rs150522856 CA2469119	1870	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA2469121 rs757006263 COSM120896	1871	N>S	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs2097336601 RCV001303504	1873	D>G		No	ClinVar dbSNP
CA75468484 rs917110319	1873	D>N		No	ClinGen Ensembl
CA353354982 rs1457045484	1874	G>R		No	ClinGen gnomAD
rs1385351933 CA353354991	1875	T>K		No	ClinGen TOPMed
rs201030123 CA2469122	1877	T>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1337821505 CA353355023	1880	Y>C		No	ClinGen TOPMed
rs949758263 CA75468516	1881	L>R		No	ClinGen Ensembl
CA2469125 rs769905697	1881	L>V		No	ClinGen ExAC gnomAD
rs1248814991 CA353355041	1883	T>I		No	ClinGen TOPMed gnomAD
rs1160888875 CA353355049	1885	P>Q		No	ClinGen TOPMed
rs769060297 CA2469128	1885	P>S		No	ClinGen ExAC gnomAD
rs1253344663 CA353355058	1887	D>N		No	ClinGen TOPMed gnomAD
CA353355070 rs1181676564	1888	Y>C		No	ClinGen TOPMed
CA75468533 rs11548294	1890	I>F		No	ClinGen Ensembl
CA2469130 rs762116185	1894	Y>C		No	ClinGen ExAC gnomAD
rs1196589227 CA353355115	1895	N>D		No	ClinGen gnomAD
CA2469131 rs767876280	1895	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1354226978 CA353355128	1896	D>E		No	ClinGen gnomAD
rs776474063 CA2469132	1899	I>F		No	ClinGen ExAC gnomAD
CA2469133 rs759231623	1905	T>I		No	ClinGen ExAC gnomAD
CA353355500 rs1359155413	1913	R>M		No	ClinGen gnomAD
COSM1237141 rs775212974 COSM1237142 CA2469153	1914	R>Q	parathyroid [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs769582613 CA2469152	1914	R>W		No	ClinGen ExAC TOPMed gnomAD
CA2469154 rs553692182	1918	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs763608749 CA2469155	1920	L>V		No	ClinGen ExAC gnomAD
rs1220784513 CA353355577	1924	A>T		No	ClinGen gnomAD
rs1276396856 CA353355588	1925	D>Y		No	ClinGen gnomAD
rs146685642 CA2469157	1929	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146685642 CA2469156	1929	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2469158 rs750235616	1930	I>V		No	ClinGen ExAC gnomAD
rs1487042616 CA353355651	1931	S>G		No	ClinGen gnomAD
CA353355655 rs1215405597	1931	S>I		No	ClinGen gnomAD
CA2469159 rs755842925	1936	S>G		No	ClinGen ExAC TOPMed gnomAD
rs780286910 CA2469160	1937	S>N		No	ClinGen ExAC gnomAD
rs748667811 CA2469164	1940	A>G		No	ClinGen ExAC gnomAD
rs374726492 CA2469163	1940	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs374726492 CA353355747	1940	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs576072178 CA2469165	1942	I>V		No	ClinGen 1000Genomes ExAC
CA2469166 rs778365957	1944	A>T		No	ClinGen ExAC gnomAD
CA75471508 rs774510006	1945	P>Q		No	ClinGen gnomAD
CA2469167 rs369090637	1946	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs375845000 RCV001340005 CA2469168	1947	G>C		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs375845000 CA75471516	1947	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs775301566 CA353355819	1948	R>*		No	ClinGen ExAC gnomAD
rs775301566 CA2469169	1948	R>G		No	ClinGen ExAC gnomAD
rs143752722 CA2469170	1948	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA75471556 rs111560302	1950	E>G		No	ClinGen Ensembl
rs773901908 CA2469172	1950	E>K		No	ClinGen ExAC TOPMed gnomAD
CA75471561 rs111560302	1950	E>V		No	ClinGen Ensembl
CA353355856 rs1375428178	1951	P>L		No	ClinGen gnomAD
rs761173988 CA353355871	1953	L>F		No	ClinGen ExAC gnomAD
rs761173988 CA2469173	1953	L>I		No	ClinGen ExAC gnomAD
CA2469176 rs760486118	1954	L>M		No	ClinGen ExAC gnomAD
CA353355884 rs1218947190	1954	L>P		No	ClinGen gnomAD
CA353355903 rs1559729631	1956	R>T		No	ClinGen Ensembl
CA2469177 rs766142205	1956	R>W		No	ClinGen ExAC gnomAD
CA353355910 rs1481182480	1957	L>V		No	ClinGen gnomAD
CA2469180 rs778916792	1958	P>R		No	ClinGen ExAC gnomAD
CA2469179 rs755221425	1958	P>T		No	ClinGen ExAC gnomAD
rs752835234 CA2469181	1960	N>H		No	ClinGen ExAC TOPMed gnomAD
rs201245776 CA75471634	1962	I>T		No	ClinGen gnomAD
CA353356019 rs1559729933	1963	G>V		No	ClinGen Ensembl
rs1362608154 CA353356054	1967	I>F		No	ClinGen TOPMed
rs111492526 COSM1692921 CA2469207 COSM1692922	1969	R>Q	skin [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA353356081 rs1388963409	1970	E>G		No	ClinGen TOPMed
CA75471933 rs868691228	1970	E>K		No	ClinGen TOPMed
CA353356149 rs1412255952	1977	S>N		No	ClinGen gnomAD
CA353356158 rs1340609659	1978	I>L		No	ClinGen TOPMed gnomAD
rs1280047807 CA353356165	1978	I>M		No	ClinGen Ensembl
rs1340609659 CA353356160	1978	I>V		No	ClinGen TOPMed gnomAD
CA353356193 rs1275942130	1982	G>D		No	ClinGen TOPMed gnomAD
rs770866600 CA2469214	1984	H>P		No	ClinGen ExAC gnomAD
rs776365223 CA2469215	1984	H>Q		No	ClinGen ExAC gnomAD
rs1277119218 CA353356218	1986	A>S		No	ClinGen gnomAD
CA2469216 rs759405975	1986	A>V		No	ClinGen ExAC gnomAD
rs764888139 CA2469217	1989	P>S		No	ClinGen ExAC TOPMed
CA75472021 rs970333657	1990	V>M		No	ClinGen Ensembl
CA2469220 rs764333955	1992	I>V		No	ClinGen ExAC gnomAD
CA353356264 rs1214686347	1993	M>T		No	ClinGen gnomAD
rs1003441857 CA75472032	1995	V>F		No	ClinGen Ensembl
rs1477364112 CA353356298	1997	S>L		No	ClinGen TOPMed gnomAD
CA2469222 rs757342939	1997	S>T		No	ClinGen ExAC gnomAD
CA353356344 rs1217036143	2002	A>T		No	ClinGen TOPMed
rs146579435 CA2469225	2003	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs563096120 CA2469226	2003	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA75472116 rs556342744	2004	R>Q		No	ClinGen TOPMed gnomAD
rs62621996 CA2469227	2006	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1386999602 CA353356403	2008	Y>C		No	ClinGen TOPMed gnomAD
CA353356405 rs1386999602	2008	Y>F		No	ClinGen TOPMed gnomAD
CA2469229 rs188216614	2010	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA353356424 rs781212517	2011	G>R		No	ClinGen ExAC TOPMed gnomAD
CA2469231 rs781212517	2011	G>S		No	ClinGen ExAC TOPMed gnomAD
CA75472157 rs1052013431	2015	G>S		No	ClinGen gnomAD
CA353356454 rs1238135005	2016	R>W		No	ClinGen gnomAD
rs769668504 CA2469233	2018	F>S		No	ClinGen ExAC TOPMed
CA2469235 rs762780598	2019	E>K		No	ClinGen ExAC gnomAD
rs1559730253 CA353356477	2020	M>V		No	ClinGen Ensembl
CA75472181 rs144036986	2024	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs774677814 CA2469237	2025	V>L		No	ClinGen ExAC TOPMed gnomAD
rs774677814 CA75472184	2025	V>M		No	ClinGen ExAC TOPMed gnomAD
CA75472217 rs898957346	2027	T>S		No	ClinGen Ensembl
rs1440997700 CA353356546	2030	A>T		No	ClinGen gnomAD
rs1337497539 CA353356819	2031	G>V		No	ClinGen gnomAD
rs1171752585 CA353356872	2035	I>L		No	ClinGen gnomAD
CA2469253 rs548262252	2035	I>T		No	ClinGen 1000Genomes ExAC gnomAD
CA353356928 rs1331290850	2038	A>V		No	ClinGen TOPMed gnomAD
CA2469254 rs199980748	2039	V>M		No	ClinGen ExAC TOPMed gnomAD
CA75473150 rs139346854	2042	P>S		No	ClinGen ESP TOPMed
rs762100251 CA2469255	2043	S>N		No	ClinGen ExAC gnomAD
rs150070349 CA2469256	2045	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1193978314 CA353357024	2045	V>L		No	ClinGen TOPMed
CA2469258 rs760753245	2047	I>V		No	ClinGen ExAC gnomAD
CA75473167 rs979105084	2049	T>M		No	ClinGen gnomAD
rs372726521 CA2469260	2052	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1459314452 CA353357185	2054	D>G		No	ClinGen gnomAD
CA2469262 rs765559414	2054	D>N		No	ClinGen ExAC TOPMed
rs756854090 CA2469264	2056	T>S		No	ClinGen ExAC
CA2469265 rs767111209	2057	C>S		No	ClinGen ExAC gnomAD
CA2469266 RCV000731237 rs141698427	2058	K>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs755612076 CA2469267	2060	S>F		No	ClinGen ExAC gnomAD
rs1376630172 CA353357320	2063	P>S		No	ClinGen TOPMed
CA75473236 rs547129461	2064	T>A		No	ClinGen TOPMed gnomAD
CA2469270 rs371167931	2065	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1207229 COSM1207228 rs371167931 CA2469269	2065	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs748464201 CA2469272	2066	P>L		No	ClinGen ExAC gnomAD
rs1401616477 CA353357377	2066	P>T		No	ClinGen TOPMed gnomAD
CA353357386 rs1280379253	2067	G>R		No	ClinGen gnomAD
rs201831615 COSM3408833 CA2469275 COSM3408832	2071	V>I	central_nervous_system [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC gnomAD
rs1438849487 CA353357468	2073	T>A		No	ClinGen TOPMed
CA353357471 rs1378316057	2073	T>N		No	ClinGen TOPMed
CA2469276 rs148043654	2074	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA2469277 rs148043654	2074	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs574821116 CA2469281	2078	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs767109451 CA2469282	2079	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1264942441 CA353357576	2079	H>Y		No	ClinGen gnomAD
CA2469283 rs750044444	2080	V>M		No	ClinGen ExAC gnomAD
CA2469284 rs755629097	2082	G>R		No	ClinGen ExAC TOPMed gnomAD
rs765294510 CA353357730	2087	V>L		No	ClinGen ExAC gnomAD
CA2469307 rs765294510	2087	V>M		No	ClinGen ExAC gnomAD
rs1218319736 CA353357758	2089	I>L		No	ClinGen TOPMed
rs754906623 CA353357795	2090	S>I		No	ClinGen gnomAD
CA75473471 rs754906623	2090	S>T		No	ClinGen gnomAD
rs967804303 CA75473478	2093	G>E		No	ClinGen Ensembl
CA353357847 rs1317906933	2093	G>R		No	ClinGen TOPMed
rs1323865565 CA353357942	2098	S>G		No	ClinGen gnomAD
rs1219914813 CA353357954	2098	S>I		No	ClinGen gnomAD
rs1252767563 CA353357992	2100	T>I		No	ClinGen gnomAD
CA353357979 rs1575461864	2100	T>P		No	ClinGen Ensembl
rs752628786 CA2469308	2101	R>C		No	ClinGen ExAC gnomAD
CA2469309 rs758173602	2101	R>H		No	ClinGen ExAC TOPMed gnomAD
rs758173602 CA353358013	2101	R>L		No	ClinGen ExAC TOPMed gnomAD
rs953604004 CA75473526	2102	T>N		No	ClinGen TOPMed gnomAD
CA353358015 rs777589620	2102	T>P		No	ClinGen ExAC gnomAD
rs953604004 CA353358024	2102	T>S		No	ClinGen TOPMed gnomAD
CA2469310 rs777589620	2102	T>S		No	ClinGen ExAC gnomAD
rs757456736 CA2469312	2104	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM192851 rs751795794 CA2469311	2104	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs781332720 CA2469313	2105	A>S		No	ClinGen ExAC gnomAD
CA353358090 rs1349150592	2106	P>L		No	ClinGen TOPMed
rs1431105837 CA353358082	2106	P>S		No	ClinGen TOPMed
rs780476043 CA2469316	2107	S>P		No	ClinGen ExAC gnomAD
CA2469318 rs768968409	2108	V>M		No	ClinGen ExAC TOPMed gnomAD
CA353358127 rs770714919	2109	A>P		No	ClinGen ExAC TOPMed gnomAD
CA2469322 rs770714919	2109	A>S		No	ClinGen ExAC TOPMed gnomAD
CA2469321 rs770714919	2109	A>T		No	ClinGen ExAC TOPMed gnomAD
CA2469323 rs146195046	2112	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs143943560 CA353358183	2113	S>I		No	ClinGen ESP ExAC gnomAD
rs143943560 CA75473588	2113	S>N		No	ClinGen ESP ExAC gnomAD
rs143943560 CA2469325	2113	S>T		No	ClinGen ESP ExAC gnomAD
CA353358195 rs1256764500	2114	I>V		No	ClinGen TOPMed gnomAD
CA353358212 rs1246542781	2115	C>R		No	ClinGen TOPMed
rs752614000 CA2469326	2116	D>E		No	ClinGen ExAC gnomAD
rs1210990029 CA353358357	2122	P>A		No	ClinGen gnomAD
rs1210990029 CA353358358	2122	P>S		No	ClinGen gnomAD
rs1414111050 CA353359179	2124	I>N		No	ClinGen TOPMed
CA2469387 rs772005057	2125	N>S		No	ClinGen ExAC gnomAD
CA2469388 rs773098378	2127	S>R		No	ClinGen ExAC gnomAD
rs770613427 CA2469390	2129	M>I		No	ClinGen ExAC gnomAD
CA2469389 rs760543750	2129	M>L		No	ClinGen ExAC gnomAD
CA2469391 rs371273156	2130	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs995332144 CA75475882	2131	A>G		No	ClinGen TOPMed
CA75475884 rs1015785985	2132	H>D		No	ClinGen Ensembl
CA2469394 rs752834312	2133	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1232527797 CA353359242	2134	T>P		No	ClinGen gnomAD
CA75475894 rs953797910	2135	S>I		No	ClinGen TOPMed
CA353359257 rs1278613736	2136	P>L		No	ClinGen gnomAD
rs974192495 CA75475896	2136	P>S		No	ClinGen Ensembl
rs764728543 CA2469396	2137	S>F		No	ClinGen ExAC TOPMed gnomAD
RCV001327170 rs1250229819 CA353359269	2138	G>D		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs751959982 CA2469397	2139	R>C		No	ClinGen ExAC TOPMed gnomAD
CA353359273 rs578244438	2139	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2469400 rs774757964	2142	E>K		No	ClinGen ExAC gnomAD
rs1194752877 CA353359309	2145	I>V		No	ClinGen gnomAD
CA75475924 rs915857958	2146	V>L		No	ClinGen Ensembl
rs981441079 CA75475932	2147	P>S		No	ClinGen Ensembl
rs1397378133 CA353359345	2150	K>N		No	ClinGen TOPMed
CA75475938 rs928537891	2150	K>R		No	ClinGen gnomAD
CA75475939 rs934598855	2153	H>Q		No	ClinGen Ensembl
rs1305159833 CA353359363	2153	H>Y		No	ClinGen TOPMed gnomAD
CA353359374 rs368087129	2154	C>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA2469403 rs371871707	2155	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA2469404 rs771524639 COSM1285002 COSM1285001	2156	R>Q	autonomic_ganglia large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA353359382 rs1467700421	2156	R>W		No	ClinGen TOPMed gnomAD
CA2469405 rs777739993	2159	P>S		No	ClinGen ExAC gnomAD
CA75475951 rs565186282	2161	E>Q		No	ClinGen gnomAD
rs1298532423 CA353359421	2162	M>L		No	ClinGen gnomAD
rs914419791 CA75475955	2163	G>D		No	ClinGen gnomAD
rs770824421 CA2469407	2164	V>M		No	ClinGen ExAC TOPMed gnomAD
RCV000337485 CA2469408 rs199939739	2166	T>M		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs775814555 CA2469411	2168	S>T		No	ClinGen ExAC TOPMed gnomAD
rs202238767 CA2469413	2169	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA75475989 rs900284459	2170	K>E		No	ClinGen gnomAD
CA2469414 rs562865493	2171	Y>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1051450577 CA75476004	2171	Y>S		No	ClinGen Ensembl
CA2469415 rs375171765	2172	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000756188 CA2469416 rs139846706	2172	R>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1359627246 CA353359486	2173	G>R		No	ClinGen TOPMed
CA353359496 rs1394585811	2174	Q>R		No	ClinGen gnomAD
CA353359501 rs1420500502	2175	H>D		No	ClinGen gnomAD
rs756433985 CA2469418	2176	V>I		No	ClinGen ExAC TOPMed gnomAD
CA353359513 rs1575466152	2177	T>P		No	ClinGen Ensembl
rs1386094182 CA353359523	2178	G>D		No	ClinGen TOPMed
CA2469420 rs752326983	2178	G>S		No	ClinGen ExAC TOPMed gnomAD
rs996116374 CA75476060	2179	S>N		No	ClinGen Ensembl
rs1575466171 CA353359550	2182	Q>P		No	ClinGen Ensembl
rs1575466184 CA353359571	2185	V>G		No	ClinGen Ensembl
CA2469422 rs777140253	2185	V>M		No	ClinGen ExAC TOPMed gnomAD
CA353359589 rs1240379537	2187	P>L		No	ClinGen gnomAD
CA353359583 rs1369647817	2187	P>S		No	ClinGen gnomAD
rs747023597 CA2469423	2188	L>F		No	ClinGen ExAC gnomAD
rs571337462 CA75476078	2191	G>V		No	ClinGen 1000Genomes
CA2469426 rs745688955	2193	A>G		No	ClinGen ExAC gnomAD
rs781114131 CA2469425	2193	A>T		No	ClinGen ExAC TOPMed gnomAD
rs769664017 CA2469427	2194	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1447703505 CA353359685	2196	V>L		No	ClinGen TOPMed
rs749488943 CA2469429	2197	R>Q		No	ClinGen ExAC gnomAD
rs201211965 CA2469428	2197	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs897082848 CA75476110	2199	G>E		No	ClinGen TOPMed
rs1209481269 CA353359723	2200	G>D		No	ClinGen Ensembl
CA75476118 rs1035667032	2203	L>V		No	ClinGen Ensembl
rs145233541 CA75476143	2205	R>G		No	ClinGen ESP TOPMed gnomAD
RCV000261356 CA10605184 rs886043158	2206	G>*		No	ClinGen ClinVar Ensembl dbSNP
CA353359797 rs1400340006	2207	E>K		No	ClinGen gnomAD
CA353359818 rs1225182554	2208	A>T		No	ClinGen TOPMed
COSM1047767 rs368617386 CA75476159	2208	A>V	endometrium [Cosmic]	No	ClinGen cosmic curated ESP TOPMed gnomAD
rs1462912422 CA353359850	2210	V>D		No	ClinGen gnomAD
rs1447980961 CA353359857	2211	P>S		No	ClinGen TOPMed gnomAD
CA353359872 rs1231893991	2212	A>T		No	ClinGen TOPMed
rs149086909 CA75477053	2212	A>V		No	ClinGen ESP TOPMed
CA353360053 rs140786324	2214	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2469457 rs763681950	2216	I>V		No	ClinGen ExAC
CA2469458 rs751173584	2219	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1452080639 CA353360135	2219	R>W		No	ClinGen TOPMed
rs1407648679 CA353360221	2223	A>G		No	ClinGen TOPMed
rs750450803 CA2469461	2223	A>T		No	ClinGen ExAC gnomAD
rs1408924448 CA353360268	2225	G>A		No	ClinGen gnomAD
rs1376823211 CA353360280	2226	L>F		No	ClinGen gnomAD
RCV000178429 RCV000905074 CA202873 rs149629209	2228	I>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2469464 rs754754415	2229	A>T		No	ClinGen ExAC TOPMed gnomAD
CA2469465 rs779055842	2232	G>D		No	ClinGen ExAC gnomAD
CA2469466 rs369477886	2233	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2469469 rs747029394	2237	E>D		No	ClinGen ExAC gnomAD
CA353360494 rs1282582191	2237	E>K		No	ClinGen gnomAD
CA2469470 rs771430559	2239	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1256508216 CA353360561	2240	F>L		No	ClinGen gnomAD
CA2469472 rs759839575	2241	D>N		No	ClinGen ExAC gnomAD
rs770170754 CA2469473	2242	D>G		No	ClinGen ExAC TOPMed gnomAD
CA2469474 rs184329174	2243	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA75477103 rs1050440418	2245	N>S		No	ClinGen gnomAD
CA2469475 rs572349637	2247	S>L		No	ClinGen ExAC gnomAD
CA353360731 rs1402865642	2249	G>D		No	ClinGen gnomAD
rs144963323 CA2469478	2249	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1014726609 CA75477114	2251	S>C		No	ClinGen TOPMed
rs1442314692 CA353360800	2253	I>V		No	ClinGen gnomAD
rs1200088181 CA353360824	2255	Q>E		No	ClinGen TOPMed gnomAD
rs1200088181 CA353360822	2255	Q>K		No	ClinGen TOPMed gnomAD
rs1270918474 CA353360826	2255	Q>R		No	ClinGen gnomAD
rs754771726 CA2469482	2258	G>R		No	ClinGen ExAC gnomAD
CA353361666 rs1392622499	2259	N>D		No	ClinGen gnomAD
CA2469501 rs752537026	2261	E>D		No	ClinGen ExAC gnomAD
CA75477893 rs866022037	2261	E>K		No	ClinGen Ensembl
CA353361752 rs1212450406	2262	V>L		No	ClinGen gnomAD
CA353361803 rs1575468854	2263	S>A		No	ClinGen Ensembl
CA2469503 rs142747695 RCV001304525	2264	I>M		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs758085966 CA2469502	2264	I>V		No	ClinGen ExAC gnomAD
CA2469504 rs751757955	2265	K>Q		No	ClinGen ExAC gnomAD
CA2469505 rs757365085	2265	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1475773939 CA353361870	2267	N>D		No	ClinGen gnomAD
rs933523056 CA75477944	2267	N>I		No	ClinGen TOPMed gnomAD
rs933523056 CA353361874	2267	N>S		No	ClinGen TOPMed gnomAD
rs1416248807 CA353361924	2270	H>R		No	ClinGen gnomAD
CA2469506 rs781244023	2271	I>N		No	ClinGen ExAC gnomAD
rs1187974314 CA353361938	2271	I>V		No	ClinGen TOPMed
CA2469507 rs377367461	2272	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA353362011 rs1351992315	2274	S>T		No	ClinGen gnomAD
CA353362059 rs1559736159	2276	Y>S		No	ClinGen Ensembl
CA353362111 rs1233742187	2278	V>A		No	ClinGen TOPMed gnomAD
rs937831006 CA353362132	2279	P>L		No	ClinGen TOPMed gnomAD
rs937831006 CA353362127	2279	P>Q		No	ClinGen TOPMed gnomAD
rs937831006 CA75477958	2279	P>R		No	ClinGen TOPMed gnomAD
rs1251354339 CA353362166	2280	V>F		No	ClinGen gnomAD
RCV001347269 rs2097352835	2281	I>S		No	ClinVar dbSNP
CA353362192 rs1339176246	2282	A>T		No	ClinGen TOPMed
rs1042412076 CA75478001	2285	D>N		No	ClinGen TOPMed gnomAD
rs776222338 CA2469514	2286	D>N		No	ClinGen ExAC gnomAD
CA353362368 rs1374840098	2287	A>T		No	ClinGen gnomAD
rs765247131 CA2469516	2288	R>C		No	ClinGen ExAC TOPMed gnomAD
rs775239285 CA2469517	2288	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1376220531 CA353362414	2289	R>C		No	ClinGen gnomAD
rs1033252725 CA75478021	2289	R>H		No	ClinGen TOPMed gnomAD
rs1314445633 CA353362481	2291	T>I		No	ClinGen gnomAD
rs1291684975 CA353362486	2292	V>A		No	ClinGen gnomAD
CA353362483 rs1353372609	2292	V>L		No	ClinGen gnomAD
rs751844144 CA2469520	2293	M>I		No	ClinGen ExAC gnomAD
rs146509223 CA2469518	2293	M>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2469519 rs763844335	2293	M>T		No	ClinGen ExAC TOPMed gnomAD
CA353363507 rs1312426427	2297	E>K		No	ClinGen TOPMed
CA353363521 rs1485150619	2298	S>A		No	ClinGen gnomAD
rs762871408 COSM1238911 CA2469535 COSM1238912	2298	S>L	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA353363524 rs762871408	2298	S>W		No	ClinGen ExAC TOPMed gnomAD
CA353363532 rs1455683954	2299	G>E		No	ClinGen gnomAD
rs767804050 CA2469539	2303	N>K		No	ClinGen ExAC gnomAD
rs761556980 CA2469538	2303	N>T		No	ClinGen ExAC gnomAD
rs1043986713 CA75480274	2304	Q>K		No	ClinGen Ensembl
CA75480276 rs900106943	2306	A>V		No	ClinGen Ensembl
rs1346782187 CA353363647	2311	R>K		No	ClinGen gnomAD
rs1159876603 CA353363680	2314	G>D		No	ClinGen TOPMed
CA2469543 rs754457328	2315	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1300630016 CA353363713	2317	G>A		No	ClinGen TOPMed gnomAD
rs1300630016 CA353363714	2317	G>V		No	ClinGen TOPMed gnomAD
rs1237946326 CA353363742	2320	D>V		No	ClinGen TOPMed
CA2469546 rs753139052	2321	A>E		No	ClinGen ExAC gnomAD
CA2469547 rs753139052	2321	A>G		No	ClinGen ExAC gnomAD
CA2469545 rs779499501	2321	A>T		No	ClinGen ExAC
CA353363751 rs753139052	2321	A>V		No	ClinGen ExAC gnomAD
CA2469548 rs780944336	2322	K>E		No	ClinGen ExAC
rs779415281 CA2469551	2322	K>N		No	ClinGen ExAC
CA2469549 rs745476530	2322	K>R		No	ClinGen ExAC
CA2469550 rs745476530	2322	K>T		No	ClinGen ExAC
CA2469554 rs774223970	2323	V>A		No	ClinGen ExAC gnomAD
CA2469552 rs748736841	2323	V>L		No	ClinGen ExAC
rs748736841 CA2469553	2323	V>M		No	ClinGen ExAC
CA2469558 rs202222289	2324	H>P		No	ClinGen ExAC gnomAD
rs1401303028 CA353363784	2326	P>H		No	ClinGen gnomAD
rs1211837552 CA353363783	2326	P>S		No	ClinGen TOPMed gnomAD
rs766567619 CA353363806	2330	V>L		No	ClinGen ExAC gnomAD
rs766567619 CA2469560	2330	V>M		No	ClinGen ExAC gnomAD
CA2469562 rs759644617	2332	E>D		No	ClinGen ExAC TOPMed gnomAD
rs139262140 CA75480426	2332	E>K		No	ClinGen ESP TOPMed
rs1471519346 CA353363826	2333	C>G		No	ClinGen gnomAD
rs765858255 CA2469563	2334	H>Y		No	ClinGen ExAC gnomAD
CA2469589 rs369846646	2341	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs535076661 CA2469591	2344	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA2469592 rs149638325	2346	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA2469593 rs758276000	2346	R>H		No	ClinGen ExAC TOPMed gnomAD
CA353364406 rs1187717496	2355	H>D		No	ClinGen gnomAD
CA353364410 rs1387821843	2355	H>R		No	ClinGen gnomAD
CA2469596 rs770734532	2356	T>A		No	ClinGen ExAC TOPMed
rs147116528 CA2469598	2358	D>N		No	ClinGen 1000Genomes ExAC gnomAD
rs1333924505 CA353364488	2359	V>F		No	ClinGen gnomAD
rs1346245193 CA353364531	2362	N>S		No	ClinGen TOPMed gnomAD
rs1433525694 CA353364543	2363	G>E		No	ClinGen gnomAD
rs150165513 CA75482747	2366	V>M		No	ClinGen ESP TOPMed
rs1305986217 CA353364586	2367	V>A		No	ClinGen gnomAD
CA2469601 rs115747856	2367	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1345999967 CA353364598	2368	G>V		No	ClinGen gnomAD
CA75482765 rs969172392	2370	P>S		No	ClinGen TOPMed
CA353364674 rs1188460365	2373	V>A		No	ClinGen gnomAD
rs1188460365 CA353364676	2373	V>G		No	ClinGen gnomAD
rs186952950 CA2469603	2374	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2469607 rs754640460	2375	V>A		No	ClinGen ExAC TOPMed gnomAD
rs767864936 CA2469605	2375	V>F		No	ClinGen ExAC TOPMed gnomAD
rs767864936 CA2469606	2375	V>I		No	ClinGen ExAC TOPMed gnomAD
CA353364709 rs1193869409	2376	G>E		No	ClinGen gnomAD
rs1396437130 CA353364763	2379	G>V		No	ClinGen gnomAD
CA2469609 rs752183022	2381	A>V		No	ClinGen ExAC gnomAD
rs553124979 CA2469610	2383	N>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1172338396 CA353364922	2388	S>T		No	ClinGen TOPMed gnomAD
rs572964946 COSM192855 CA2469612	2389	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA2469613 rs541479906	2389	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1328022005 CA353364949	2390	Y>N		No	ClinGen TOPMed gnomAD
CA2469615 rs183021495	2392	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1362063173 CA353365010	2393	G>E		No	ClinGen TOPMed
rs1274000605 CA353365004	2393	G>R		No	ClinGen TOPMed gnomAD
rs142514904 CA2469619	2396	G>E		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA353365125 rs1309634632	2399	T>A		No	ClinGen gnomAD
CA2469620 rs774787668	2399	T>I		No	ClinGen ExAC gnomAD
rs868104472 CA75431995	2402	Q>*		No	ClinGen Ensembl
rs1439207707 CA353334607	2402	Q>L		No	ClinGen gnomAD
rs779062269 CA2469637	2403	S>L		No	ClinGen ExAC TOPMed gnomAD
CA2469639 rs772596597	2408	N>D		No	ClinGen ExAC gnomAD
rs773657087 CA2469640	2408	N>T		No	ClinGen ExAC gnomAD
rs543579840 CA2469641	2409	T>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1428092166 CA353334664	2411	R>*		No	ClinGen gnomAD
rs775075616 CA2469643	2411	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA353334667 rs1436226210	2412	A>T		No	ClinGen gnomAD
rs763598218 CA2469645	2416	T>P		No	ClinGen ExAC gnomAD
rs933928056 CA75432088	2418	S>P		No	ClinGen TOPMed gnomAD
rs1441962467 CA353334715	2420	T>N		No	ClinGen gnomAD
CA2469647 rs767585122	2420	T>P		No	ClinGen ExAC gnomAD
CA353334727 rs1192269799	2422	E>K		No	ClinGen TOPMed gnomAD
rs779884697 CA2469650	2425	S>P		No	ClinGen ExAC gnomAD
CA2469651 rs753517546	2429	M>I		No	ClinGen ExAC gnomAD
CA2469653 rs778959875	2431	C>G		No	ClinGen ExAC gnomAD
CA245690 rs748246153 RCV000178550	2434	T>I		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs748246153 CA353334815	2434	T>K		No	ClinGen ExAC TOPMed gnomAD
CA2469654 rs149342655	2435	P>S		No	ClinGen ESP ExAC gnomAD
rs778288717 CA2469655	2439	K>E		No	ClinGen ExAC gnomAD
CA2469656 rs747514352	2441	M>I		No	ClinGen ExAC gnomAD
CA353334861 rs1369703288 COSM192856	2441	M>T	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs771261593 CA2469657	2443	T>S		No	ClinGen ExAC gnomAD
CA75432183 rs867081614	2447	P>S		No	ClinGen Ensembl
CA2469658 rs777069691	2448	G>D		No	ClinGen ExAC gnomAD
CA353334933 rs746154157	2452	I>S		No	ClinGen ExAC gnomAD
CA2469659 rs746154157	2452	I>T		No	ClinGen ExAC gnomAD
rs146499414 CA2469661	2454	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1309413 rs142229998 CA2469663 COSM1309412	2457	G>S	urinary_tract breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs2097375065 RCV001344796	2458	G>E		No	ClinVar dbSNP
CA2469664 rs773340625	2460	N>S		No	ClinGen ExAC gnomAD
rs1483188324 CA353334999	2462	I>T		No	ClinGen TOPMed gnomAD
rs766161588 CA2469666	2462	I>V		No	ClinGen ExAC gnomAD
CA2469668 rs140098061	2463	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2469669 rs140098061	2463	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA353335009 rs1447798203	2464	G>D		No	ClinGen gnomAD
CA353335013 rs1395850097	2465	S>G		No	ClinGen gnomAD
rs758545170 CA2469671	2466	P>A		No	ClinGen ExAC gnomAD
CA353335044 rs1575484209	2469	A>D		No	ClinGen Ensembl
rs1465463564 CA353335050	2470	K>R		No	ClinGen TOPMed gnomAD
rs1575484220 CA353335057	2471	V>L		No	ClinGen Ensembl
rs764237377 CA2469689	2473	G>A		No	ClinGen ExAC gnomAD
CA75433384 rs548593015	2475	R>C		No	ClinGen 1000Genomes ExAC gnomAD
CA2469691 rs568474038	2475	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2469690 rs548593015	2475	R>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1290613172 CA353335132	2479	P>L		No	ClinGen gnomAD
rs781747412 CA2469692	2480	G>D		No	ClinGen ExAC gnomAD
CA2469693 rs112427416	2481	S>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2469694 rs201566479	2482	A>P		No	ClinGen 1000Genomes ExAC gnomAD
rs990640720 CA75433458	2482	A>V		No	ClinGen TOPMed
CA75433459 rs145849608	2483	N>S		No	ClinGen 1000Genomes ESP TOPMed gnomAD
rs1481087344 CA353335176	2484	E>K		No	ClinGen gnomAD
CA2469696 rs749597009	2485	T>I		No	ClinGen ExAC TOPMed gnomAD
CA2469697 rs771879974	2487	S>F		No	ClinGen ExAC TOPMed gnomAD
CA75433510 rs907576152	2491	E>*		No	ClinGen TOPMed
CA353335283 rs1559745834	2494	T>I		No	ClinGen Ensembl
rs149182236 CA2469702	2496	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA353335316 rs1409735769	2497	S>F		No	ClinGen TOPMed gnomAD
CA2469705 rs762699176	2497	S>P		No	ClinGen ExAC gnomAD
rs764325066 CA2469706	2498	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1226615532 CA353335326	2498	T>I		No	ClinGen gnomAD
rs1575485887 CA353335328	2499	E>Q		No	ClinGen Ensembl
rs751710236 CA2469707	2500	T>N		No	ClinGen ExAC gnomAD
CA353335343 rs1575485898	2500	T>P		No	ClinGen Ensembl
CA353335371 rs1207614757	2502	Y>C		No	ClinGen gnomAD
rs761994878 CA2469708	2503	S>G		No	ClinGen ExAC TOPMed gnomAD
CA2469710 rs148364272	2504	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2469711 rs756582653	2504	A>V		No	ClinGen ExAC gnomAD
CA2469712 rs780665621	2508	A>V		No	ClinGen ExAC TOPMed gnomAD
CA2469713 rs754275385	2510	S>L		No	ClinGen ExAC TOPMed gnomAD
rs142878980 CA2469717	2512	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2469718 rs368057013	2512	A>V		No	ClinGen ESP ExAC
CA2469719 rs745321476	2513	S>N		No	ClinGen ExAC gnomAD
rs1335287221 CA353335482	2513	S>R		No	ClinGen gnomAD
CA2469720 rs769756873	2514	K>R		No	ClinGen ExAC gnomAD
CA353335514 rs1283647370	2515	V>A		No	ClinGen gnomAD
CA75433639 rs1010302938	2516	T>I		No	ClinGen TOPMed
rs372197754 CA2469722	2517	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA2469724 rs774703016	2518	K>N		No	ClinGen ExAC gnomAD
CA2469723 rs768408813	2518	K>Q		No	ClinGen ExAC gnomAD
CA353335540 rs1308690935	2519	G>E		No	ClinGen TOPMed
rs1020317703 CA75433677	2520	A>S		No	ClinGen TOPMed gnomAD
CA353335943 rs1559746019	2524	K>N		No	ClinGen Ensembl
CA353335937 rs1207996731	2524	K>R		No	ClinGen gnomAD
CA2469726 rs767712164	2526	F>Y		No	ClinGen ExAC gnomAD
rs776041549 CA353335958	2527	V>L		No	ClinGen ExAC gnomAD
CA2469727 rs776041549	2527	V>M		No	ClinGen ExAC gnomAD
rs1000161236 CA75433718	2528	G>D		No	ClinGen TOPMed
rs957858587 CA75433737	2535	V>A		No	ClinGen TOPMed gnomAD
rs1413248397 CA353336033	2538	S>N		No	ClinGen gnomAD
CA2469753 rs765711797	2544	M>T		No	ClinGen ExAC gnomAD
rs1198541372 CA353336085	2544	M>V		No	ClinGen TOPMed gnomAD
CA75434864 rs369464027	2547	I>F		No	ClinGen ESP
CA353336105 RCV000722290 rs1341381124	2547	I>T		No	ClinGen ClinVar TOPMed dbSNP
CA353336109 rs1411322123	2548	G>R		No	ClinGen gnomAD
CA2469756 rs767127904	2549	V>F		No	ClinGen ExAC gnomAD
CA353336144 rs1232455131	2553	T>I		No	ClinGen TOPMed
CA353336141 rs1559746835	2553	T>P		No	ClinGen Ensembl
CA353336149 rs1388779908	2554	T>I		No	ClinGen gnomAD
rs779527417 CA2469759	2555	P>H		No	ClinGen ExAC gnomAD
rs779527417 CA75434926	2555	P>L		No	ClinGen ExAC gnomAD
rs779527417 CA2469760	2555	P>R		No	ClinGen ExAC gnomAD
CA2469763 rs747941852	2557	E>K		No	ClinGen ExAC TOPMed gnomAD
CA353336175 rs1242883375	2558	E>D		No	ClinGen gnomAD
rs546496380 CA2469764	2559	V>I		No	ClinGen 1000Genomes ExAC
rs1008535202 CA75434954	2560	S>F		No	ClinGen TOPMed
CA2469768 rs776858741	2561	M>T		No	ClinGen ExAC gnomAD
rs771217379 CA2469767	2561	M>V		No	ClinGen ExAC gnomAD
CA353336206 rs1275778972	2563	H>R		No	ClinGen TOPMed gnomAD
CA75434985 rs775849419	2563	H>Y		No	ClinGen gnomAD
rs759652781 CA2469769	2564	V>I		No	ClinGen ExAC TOPMed gnomAD
CA353336245 rs1465983443	2569	Y>H		No	ClinGen TOPMed
CA353336252 rs1473604684	2570	N>H		No	ClinGen Ensembl
rs377163032 CA2469771	2570	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs377163032 CA2469772	2570	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA2469774 rs750135102	2571	V>A		No	ClinGen ExAC gnomAD
CA75435006 rs957570616	2571	V>I		No	ClinGen TOPMed
rs1472577801 CA353336268	2573	Y>N		No	ClinGen gnomAD
CA353336276 rs765974957	2574	V>F		No	ClinGen ExAC TOPMed gnomAD
rs765974957 CA2469776	2574	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1250616189 CA353336290	2576	K>R		No	ClinGen TOPMed
rs778755221 CA2469779	2579	G>S		No	ClinGen ExAC gnomAD
CA2469781 rs758182239	2580	D>N		No	ClinGen ExAC gnomAD
CA75435043 rs1005072440	2582	V>A		No	ClinGen Ensembl
CA353336339 rs1425322294	2584	A>T		No	ClinGen gnomAD
rs771313635 CA2469784	2585	V>G		No	ClinGen ExAC gnomAD
CA353336345 rs1343872715	2585	V>M		No	ClinGen TOPMed gnomAD
rs899257658 CA353336357	2586	K>N		No	ClinGen TOPMed gnomAD
rs1163662328 CA353336354	2586	K>R		No	ClinGen TOPMed gnomAD
CA353336363 rs1459284714	2587	W>C		No	ClinGen gnomAD
CA2469787 rs144321868	2587	W>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs769890311 CA2469788	2589	E>G		No	ClinGen ExAC gnomAD
rs1441986651 CA353336396	2591	H>R		No	ClinGen gnomAD
CA2469789 rs775930321	2594	G>S		No	ClinGen ExAC gnomAD
rs1395934921 CA353336425	2595	S>R		No	ClinGen TOPMed
rs1400741408 CA353336436	2596	P>H		No	ClinGen TOPMed
CA2469791 rs768988364	2597	F>S		No	ClinGen ExAC gnomAD
rs762115857 CA2469793	2600	T>I		No	ClinGen ExAC gnomAD
rs1359885883 CA353336485	2602	P>A		No	ClinGen gnomAD

6 associated diseases with O75369

[MIM: 108720]: Atelosteogenesis 1 (AO1)

A lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the mid-thoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes which are encapsulated in fibrous tissue. {ECO:0000269|PubMed:14991055}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 108721]: Atelosteogenesis 3 (AO3)

A short-limb lethal skeletal dysplasia with vertebral abnormalities, disharmonious skeletal maturation, poorly modeled long bones and joint dislocations. Recurrent respiratory insufficiency and/or infections usually result in early death. {ECO:0000269|PubMed:14991055}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 112310]: Boomerang dysplasia (BOOMD)

A perinatal lethal osteochondrodysplasia characterized by absence or underossification of the limb bones and vertebrae. Patients manifest dwarfism with short, bowed, rigid limbs and characteristic facies. Boomerang dysplasia is distinguished from atelosteogenesis on the basis of a more severe defect in mineralization, with complete absence of ossification in some limb elements and vertebral segments. {ECO:0000269|PubMed:15994868}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 150250]: Larsen syndrome (LRS)

An osteochondrodysplasia characterized by large-joint dislocations and characteristic craniofacial abnormalities. The cardinal features of the condition are dislocations of the hip, knee and elbow joints, with equinovarus or equinovalgus foot deformities. Spatula-shaped fingers, most marked in the thumb, are also present. Craniofacial anomalies include hypertelorism, prominence of the forehead, a depressed nasal bridge, and a flattened midface. Cleft palate and short stature are often associated features. Spinal anomalies include scoliosis and cervical kyphosis. Hearing loss is a well-recognized complication. {ECO:0000269|PubMed:14991055, ECO:0000269|PubMed:16801345}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 272460]: Spondylocarpotarsal synostosis syndrome (SCT)

Disorder characterized by short stature and vertebral, carpal and tarsal fusions. {ECO:0000269|PubMed:14991055}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the mid-thoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes which are encapsulated in fibrous tissue. {ECO:0000269|PubMed:14991055}. Note=The disease is caused by variants affecting the gene represented in this entry.
A short-limb lethal skeletal dysplasia with vertebral abnormalities, disharmonious skeletal maturation, poorly modeled long bones and joint dislocations. Recurrent respiratory insufficiency and/or infections usually result in early death. {ECO:0000269|PubMed:14991055}. Note=The disease is caused by variants affecting the gene represented in this entry.
A perinatal lethal osteochondrodysplasia characterized by absence or underossification of the limb bones and vertebrae. Patients manifest dwarfism with short, bowed, rigid limbs and characteristic facies. Boomerang dysplasia is distinguished from atelosteogenesis on the basis of a more severe defect in mineralization, with complete absence of ossification in some limb elements and vertebral segments. {ECO:0000269|PubMed:15994868}. Note=The disease is caused by variants affecting the gene represented in this entry.
An osteochondrodysplasia characterized by large-joint dislocations and characteristic craniofacial abnormalities. The cardinal features of the condition are dislocations of the hip, knee and elbow joints, with equinovarus or equinovalgus foot deformities. Spatula-shaped fingers, most marked in the thumb, are also present. Craniofacial anomalies include hypertelorism, prominence of the forehead, a depressed nasal bridge, and a flattened midface. Cleft palate and short stature are often associated features. Spinal anomalies include scoliosis and cervical kyphosis. Hearing loss is a well-recognized complication. {ECO:0000269|PubMed:14991055, ECO:0000269|PubMed:16801345}. Note=The disease is caused by variants affecting the gene represented in this entry.
Disorder characterized by short stature and vertebral, carpal and tarsal fusions. {ECO:0000269|PubMed:14991055}. Note=The disease is caused by variants affecting the gene represented in this entry.

52 regional properties for O75369

Type	Name	Position	InterPro Accession
repeat	Filamin/ABP280 repeat	253 - 350	IPR001298-1
repeat	Filamin/ABP280 repeat	353 - 449	IPR001298-2
repeat	Filamin/ABP280 repeat	451 - 546	IPR001298-3
repeat	Filamin/ABP280 repeat	548 - 639	IPR001298-4
repeat	Filamin/ABP280 repeat	644 - 739	IPR001298-5
repeat	Filamin/ABP280 repeat	741 - 842	IPR001298-6
repeat	Filamin/ABP280 repeat	844 - 941	IPR001298-7
repeat	Filamin/ABP280 repeat	943 - 1037	IPR001298-8
repeat	Filamin/ABP280 repeat	1039 - 1130	IPR001298-9
repeat	Filamin/ABP280 repeat	1132 - 1225	IPR001298-10
repeat	Filamin/ABP280 repeat	1227 - 1325	IPR001298-11
repeat	Filamin/ABP280 repeat	1327 - 1418	IPR001298-12
repeat	Filamin/ABP280 repeat	1420 - 1514	IPR001298-13
repeat	Filamin/ABP280 repeat	1516 - 1611	IPR001298-14
repeat	Filamin/ABP280 repeat	1613 - 1707	IPR001298-15
repeat	Filamin/ABP280 repeat	1730 - 1819	IPR001298-16
repeat	Filamin/ABP280 repeat	1820 - 1911	IPR001298-17
repeat	Filamin/ABP280 repeat	1912 - 1997	IPR001298-18
repeat	Filamin/ABP280 repeat	2001 - 2092	IPR001298-19
repeat	Filamin/ABP280 repeat	2101 - 2188	IPR001298-20
repeat	Filamin/ABP280 repeat	2192 - 2283	IPR001298-21
repeat	Filamin/ABP280 repeat	2286 - 2378	IPR001298-22
repeat	Filamin/ABP280 repeat	2383 - 2474	IPR001298-23
repeat	Filamin/ABP280 repeat	2511 - 2602	IPR001298-24
conserved_site	Actinin-type actin-binding domain, conserved site	18 - 27	IPR001589-1
conserved_site	Actinin-type actin-binding domain, conserved site	94 - 118	IPR001589-2
domain	Calponin homology domain	16 - 122	IPR001715-1
domain	Calponin homology domain	139 - 242	IPR001715-2
repeat	Filamin/ABP280 repeat-like	249 - 347	IPR017868-1
repeat	Filamin/ABP280 repeat-like	349 - 446	IPR017868-2
repeat	Filamin/ABP280 repeat-like	447 - 543	IPR017868-3
repeat	Filamin/ABP280 repeat-like	544 - 636	IPR017868-4
repeat	Filamin/ABP280 repeat-like	640 - 736	IPR017868-5
repeat	Filamin/ABP280 repeat-like	737 - 839	IPR017868-6
repeat	Filamin/ABP280 repeat-like	840 - 938	IPR017868-7
repeat	Filamin/ABP280 repeat-like	939 - 1034	IPR017868-8
repeat	Filamin/ABP280 repeat-like	1035 - 1127	IPR017868-9
repeat	Filamin/ABP280 repeat-like	1128 - 1222	IPR017868-10
repeat	Filamin/ABP280 repeat-like	1223 - 1322	IPR017868-11
repeat	Filamin/ABP280 repeat-like	1323 - 1415	IPR017868-12
repeat	Filamin/ABP280 repeat-like	1416 - 1511	IPR017868-13
repeat	Filamin/ABP280 repeat-like	1512 - 1608	IPR017868-14
repeat	Filamin/ABP280 repeat-like	1609 - 1704	IPR017868-15
repeat	Filamin/ABP280 repeat-like	1709 - 1816	IPR017868-16
repeat	Filamin/ABP280 repeat-like	1816 - 1908	IPR017868-17
repeat	Filamin/ABP280 repeat-like	1919 - 1994	IPR017868-18
repeat	Filamin/ABP280 repeat-like	1997 - 2089	IPR017868-19
repeat	Filamin/ABP280 repeat-like	2087 - 2185	IPR017868-20
repeat	Filamin/ABP280 repeat-like	2188 - 2280	IPR017868-21
repeat	Filamin/ABP280 repeat-like	2282 - 2375	IPR017868-22
repeat	Filamin/ABP280 repeat-like	2379 - 2471	IPR017868-23
repeat	Filamin/ABP280 repeat-like	2507 - 2601	IPR017868-24

Functions

		Description
EC Number
Subcellular Localization	[Isoform 1]: Cytoplasm, cell cortex Cytoplasm, cytoskeleton Cytoplasm, cytoskeleton, stress fiber Cytoplasm, myofibril, sarcomere, Z line	In differentiating myotubes, isoform 1, isoform 2 and isoform 3 are localized diffusely throughout the cytoplasm with regions of enrichment at the longitudinal actin stress fiber In differentiated tubes, isoform 1 is also detected within the Z-lines
PANTHER Family	PTHR38537	JITTERBUG, ISOFORM N
PANTHER Subfamily	PTHR38537:SF17	JITTERBUG, ISOFORM N
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

12 GO annotations of cellular component

Name	Definition
actin cytoskeleton	The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes.
brush border	The dense covering of microvilli on the apical surface of an epithelial cell in tissues such as the intestine, kidney, and choroid plexus; the microvilli aid absorption by increasing the surface area of the cell.
cell cortex	The region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
focal adhesion	A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ).
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
phagocytic vesicle	A membrane-bounded intracellular vesicle that arises from the ingestion of particulate material by phagocytosis.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
stress fiber	A contractile actin filament bundle that consists of short actin filaments with alternating polarity, cross-linked by alpha-actinin and possibly other actin bundling proteins, and with myosin present in a periodic distribution along the fiber.
Z disc	Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached.

5 GO annotations of molecular function

Name	Definition
actin binding	Binding to monomeric or multimeric forms of actin, including actin filaments.
actin filament binding	Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits.
cadherin binding	Binding to cadherin, a type I membrane protein involved in cell adhesion.
identical protein binding	Binding to an identical protein or proteins.
RNA binding	Binding to an RNA molecule or a portion thereof.

6 GO annotations of biological process

Name	Definition
actin cytoskeleton organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins.
cellular response to interferon-gamma	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 interferon-gamma stimulus. Interferon gamma is the only member of the type II interferon found so far.
epithelial cell morphogenesis	The change in form that occurs when an epithelial cell progresses from its initial formation to its mature state.
keratinocyte development	The process whose specific outcome is the progression of a keratinocyte over time, from its formation to the mature structure.
signal transduction	The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.
skeletal muscle tissue development	The developmental sequence of events leading to the formation of adult skeletal muscle tissue. The main events are: the fusion of myoblasts to form myotubes that increase in size by further fusion to them of myoblasts, the formation of myofibrils within their cytoplasm and the establishment of functional neuromuscular junctions with motor neurons. At this stage they can be regarded as mature muscle fibers.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9VEN1	cher	Filamin-A	Drosophila melanogaster (Fruit fly)	SS
P21333	FLNA	Filamin-A	Homo sapiens (Human)	SS
Q8BTM8	Flna	Filamin-A	Mus musculus (Mouse)	SS
Q80X90	Flnb	Filamin-B	Mus musculus (Mouse)	SS

10	20	30	40	50	60
MPVTEKDLAE	DAPWKKIQQN	TFTRWCNEHL	KCVNKRIGNL	QTDLSDGLRL	IALLEVLSQK
70	80	90	100	110	120
RMYRKYHQRP	TFRQMQLENV	SVALEFLDRE	SIKLVSIDSK	AIVDGNLKLI	LGLVWTLILH
130	140	150	160	170	180
YSISMPVWED	EGDDDAKKQT	PKQRLLGWIQ	NKIPYLPITN	FNQNWQDGKA	LGALVDSCAP
190	200	210	220	230	240
GLCPDWESWD	PQKPVDNARE	AMQQADDWLG	VPQVITPEEI	IHPDVDEHSV	MTYLSQFPKA
250	260	270	280	290	300
KLKPGAPLKP	KLNPKKARAY	GRGIEPTGNM	VKQPAKFTVD	TISAGQGDVM	VFVEDPEGNK
310	320	330	340	350	360
EEAQVTPDSD	KNKTYSVEYL	PKVTGLHKVT	VLFAGQHISK	SPFEVSVDKA	QGDASKVTAK
370	380	390	400	410	420
GPGLEAVGNI	ANKPTYFDIY	TAGAGVGDIG	VEVEDPQGKN	TVELLVEDKG	NQVYRCVYKP
430	440	450	460	470	480
MQPGPHVVKI	FFAGDTIPKS	PFVVQVGEAC	NPNACRASGR	GLQPKGVRIR	ETTDFKVDTK
490	500	510	520	530	540
AAGSGELGVT	MKGPKGLEEL	VKQKDFLDGV	YAFEYYPSTP	GRYSIAITWG	GHHIPKSPFE
550	560	570	580	590	600
VQVGPEAGMQ	KVRAWGPGLH	GGIVGRSADF	VVESIGSEVG	SLGFAIEGPS	QAKIEYNDQN
610	620	630	640	650	660
DGSCDVKYWP	KEPGEYAVHI	MCDDEDIKDS	PYMAFIHPAT	GGYNPDLVRA	YGPGLEKSGC
670	680	690	700	710	720
IVNNLAEFTV	DPKDAGKAPL	KIFAQDGEGQ	RIDIQMKNRM	DGTYACSYTP	VKAIKHTIAV
730	740	750	760	770	780
VWGGVNIPHS	PYRVNIGQGS	HPQKVKVFGP	GVERSGLKAN	EPTHFTVDCT	EAGEGDVSVG
790	800	810	820	830	840
IKCDARVLSE	DEEDVDFDII	HNANDTFTVK	YVPPAAGRYT	IKVLFASQEI	PASPFRVKVD
850	860	870	880	890	900
PSHDASKVKA	EGPGLSKAGV	ENGKPTHFTV	YTKGAGKAPL	NVQFNSPLPG	DAVKDLDIID
910	920	930	940	950	960
NYDYSHTVKY	TPTQQGNMQV	LVTYGGDPIP	KSPFTVGVAA	PLDLSKIKLN	GLENRVEVGK
970	980	990	1000	1010	1020
DQEFTVDTRG	AGGQGKLDVT	ILSPSRKVVP	CLVTPVTGRE	NSTAKFIPRE	EGLYAVDVTY
1030	1040	1050	1060	1070	1080
DGHPVPGSPY	TVEASLPPDP	SKVKAHGPGL	EGGLVGKPAE	FTIDTKGAGT	GGLGLTVEGP
1090	1100	1110	1120	1130	1140
CEAKIECSDN	GDGTCSVSYL	PTKPGEYFVN	ILFEEVHIPG	SPFKADIEMP	FDPSKVVASG
1150	1160	1170	1180	1190	1200
PGLEHGKVGE	AGLLSVDCSE	AGPGALGLEA	VSDSGTKAEV	SIQNNKDGTY	AVTYVPLTAG
1210	1220	1230	1240	1250	1260
MYTLTMKYGG	ELVPHFPARV	KVEPAVDTSR	IKVFGPGIEG	KDVFREATTD	FTVDSRPLTQ
1270	1280	1290	1300	1310	1320
VGGDHIKAHI	ANPSGASTEC	FVTDNADGTY	QVEYTPFEKG	LHVVEVTYDD	VPIPNSPFKV
1330	1340	1350	1360	1370	1380
AVTEGCQPSR	VQAQGPGLKE	AFTNKPNVFT	VVTRGAGIGG	LGITVEGPSE	SKINCRDNKD
1390	1400	1410	1420	1430	1440
GSCSAEYIPF	APGDYDVNIT	YGGAHIPGSP	FRVPVKDVVD	PSKVKIAGPG	LGSGVRARVL
1450	1460	1470	1480	1490	1500
QSFTVDSSKA	GLAPLEVRVL	GPRGLVEPVN	VVDNGDGTHT	VTYTPSQEGP	YMVSVKYADE
1510	1520	1530	1540	1550	1560
EIPRSPFKVK	VLPTYDASKV	TASGPGLSSY	GVPASLPVDF	AIDARDAGEG	LLAVQITDQE
1570	1580	1590	1600	1610	1620
GKPKRAIVHD	NKDGTYAVTY	IPDKTGRYMI	GVTYGGDDIP	LSPYRIRATQ	TGDASKCLAT
1630	1640	1650	1660	1670	1680
GPGIASTVKT	GEEVGFVVDA	KTAGKGKVTC	TVLTPDGTEA	EADVIENEDG	TYDIFYTAAK
1690	1700	1710	1720	1730	1740
PGTYVIYVRF	GGVDIPNSPF	TVMATDGEVT	AVEEAPVNAC	PPGFRPWVTE	EAYVPVSDMN
1750	1760	1770	1780	1790	1800
GLGFKPFDLV	IPFAVRKGEI	TGEVHMPSGK	TATPEIVDNK	DGTVTVRYAP	TEVGLHEMHI
1810	1820	1830	1840	1850	1860
KYMGSHIPES	PLQFYVNYPN	SGSVSAYGPG	LVYGVANKTA	TFTIVTEDAG	EGGLDLAIEG
1870	1880	1890	1900	1910	1920
PSKAEISCID	NKDGTCTVTY	LPTLPGDYSI	LVKYNDKHIP	GSPFTAKITD	DSRRCSQVKL
1930	1940	1950	1960	1970	1980
GSAADFLLDI	SETDLSSLTA	SIKAPSGRDE	PCLLKRLPNN	HIGISFIPRE	VGEHLVSIKK
1990	2000	2010	2020	2030	2040
NGNHVANSPV	SIMVVQSEIG	DARRAKVYGR	GLSEGRTFEM	SDFIVDTRDA	GYGGISLAVE
2050	2060	2070	2080	2090	2100
GPSKVDIQTE	DLEDGTCKVS	YFPTVPGVYI	VSTKFADEHV	PGSPFTVKIS	GEGRVKESIT
2110	2120	2130	2140	2150	2160
RTSRAPSVAT	VGSICDLNLK	IPEINSSDMS	AHVTSPSGRV	TEAEIVPMGK	NSHCVRFVPQ
2170	2180	2190	2200	2210	2220
EMGVHTVSVK	YRGQHVTGSP	FQFTVGPLGE	GGAHKVRAGG	PGLERGEAGV	PAEFSIWTRE
2230	2240	2250	2260	2270	2280
AGAGGLSIAV	EGPSKAEITF	DDHKNGSCGV	SYIAQEPGNY	EVSIKFNDEH	IPESPYLVPV
2290	2300	2310	2320	2330	2340
IAPSDDARRL	TVMSLQESGL	KVNQPASFAI	RLNGAKGKID	AKVHSPSGAV	EECHVSELEP
2350	2360	2370	2380	2390	2400
DKYAVRFIPH	ENGVHTIDVK	FNGSHVVGSP	FKVRVGEPGQ	AGNPALVSAY	GTGLEGGTTG
2410	2420	2430	2440	2450	2460
IQSEFFINTT	RAGPGTLSVT	IEGPSKVKMD	CQETPEGYKV	MYTPMAPGNY	LISVKYGGPN
2470	2480	2490	2500	2510	2520
HIVGSPFKAK	VTGQRLVSPG	SANETSSILV	ESVTRSSTET	CYSAIPKASS	DASKVTSKGA
2530	2540	2550	2560	2570	2580
GLSKAFVGQK	SSFLVDCSKA	GSNMLLIGVH	GPTTPCEEVS	MKHVGNQQYN	VTYVVKERGD
2590	2600
YVLAVKWGEE	HIPGSPFHVT	VP