AiPD: Autoinhibited Protein Database

Q9H5I5

Gene name	PIEZO2 (C18orf30, C18orf58, FAM38B)
Protein name	Piezo-type mechanosensitive ion channel component 2
Names	Protein FAM38B
Species	Homo sapiens (Human)
KEGG Pathway	hsa:63895
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

411-487 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

411-487 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

0 structures for Q9H5I5

Entry ID	Method	Resolution	Chain	Position	Source

2067 variants for Q9H5I5

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000660458 CA8892877 rs371432372 COSM3764655 RCV002532016 RCV001551377	51	T>M	central_nervous_system Inborn genetic diseases Arthrogryposis, distal, with impaired proprioception and touch [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA8892829 rs760374118 RCV002530846 RCV000584968 RCV001329882	202	R>L	Marden-Walker syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1208056389 RCV001329883 CA402029208	240	S>F	Arthrogryposis, distal, with impaired proprioception and touch [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001293694 rs2041679279	257	W>*	Gordon syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV003147564 CA8892803 RCV000855471 rs773449118	304	Y>C	Fetal akinesia deformation sequence 1 Arthrogryposis, distal, with impaired proprioception and touch [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000596597 rs751565062 RCV002532375 CA8892804	304	Y>H	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs369473273 RCV002539340 RCV000885532 CA8892753	417	V>L	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002530845 RCV000585547 rs202104395 CA8892750	421	G>R	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000855470 RCV000779589 CA401925060 rs1568069621	462	R>*	Fetal akinesia deformation sequence 1 Variant assessed as Somatic; impact. Arthrogryposis, distal, with impaired proprioception and touch [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
rs777924794 RCV001196405	515	Y>N	Arthrogryposis, distal, with impaired proprioception and touch [ClinVar]	Yes	ClinVar dbSNP
RCV000415610 rs1057519426	517	S>missing	Arthrogryposis, distal, with impaired proprioception and touch [ClinVar]	Yes	ClinVar dbSNP
RCV001253560 rs990982191	581	G>*	Gordon syndrome [ClinVar]	Yes	ClinVar dbSNP
rs376057592 RCV000935015 RCV002544489 CA8892705	621	S>C	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000513192 rs1555647548 RCV000660457 CA401922815	623	E>K	Variant assessed as Somatic; impact. Arthrogryposis, distal, with impaired proprioception and touch [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
rs1598482405 RCV000990073 CA401922437	642	E>*	Arthrogryposis, distal, with impaired proprioception and touch [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs587777453 CA163199 VAR_071817 RCV001266820 RCV000125482	712	M>V	Inborn genetic diseases Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome DA5 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
rs587777076 VAR_070938 CA149687 RCV000082866	802	I>F	Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome DA5; recovers faster from inactivation [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001198263 CA8892625 CA401917838 RCV001260402 rs750411760	890	G>R	Arthrogryposis, distal, with impaired proprioception and touch [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000512902 CA8892623 RCV002527408 rs564867814	894	E>K	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs886039824 CA10588853 RCV000256344	903	S>*	Arthrogryposis, distal, with impaired proprioception and touch [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1323885459 CA401924274 RCV000850080	987	T>I	Variant assessed as Somatic; 0.0 impact. Myopathy [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD
CA10581454 rs878853140 RCV000224516	998	M>T	Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000415541 rs1057519626	1007	P>missing	Arthrogryposis, distal, with impaired proprioception and touch [ClinVar]	Yes	ClinVar dbSNP
rs752023399 RCV001329881	1040	D>H	Marden-Walker syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1203151992 CA401922644 RCV000990072	1138	R>*	Arthrogryposis, distal, with impaired proprioception and touch [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA8892506 RCV001727666 rs73946020 RCV001265640 RCV000972932 RCV000258011	1219	V>M	autosomal recessive PIEZO2 associated disease Arthrogryposis, distal, with impaired proprioception and touch [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1555639568 RCV000622954	1235	C>missing	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
rs371703803 RCV002544488 CA8892488 RCV000935014	1278	D>H	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs9959296 RCV000224173 RCV002485446 CA8892480	1289	S>F	Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs7234309 CA8892474 VAR_071039 RCV000243372 RCV001788148 RCV001788147 RCV001788149 RCV001636814 RCV001788150	1354	V>I	Gordon syndrome Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome Marden-Walker syndrome Arthrogryposis, distal, with impaired proprioception and touch [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8892473 RCV000661999 RCV000661998 rs777349822 RCV000661997	1358	T>M	Variant assessed as Somatic; 0.0 impact. Gordon syndrome Marden-Walker syndrome Arthrogryposis, distal, with impaired proprioception and touch [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000622269 CA401919542 rs1555638058	1363	L>P	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1598431052 RCV000984982	1390	T>missing	Arthrogryposis, distal, with impaired proprioception and touch [ClinVar]	Yes	ClinVar dbSNP
RCV002532974 CA401918435 RCV000714677 rs1568013762	1431	S>N	autosomal recessive PIEZO2 associated disease [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001265890 rs2037335667	1459	I>*	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
RCV001234550 rs886039822 CA10588851 RCV000256261	1575	R>*	Arthrogryposis, distal, with impaired proprioception and touch [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001170054 RCV002558701 RCV001265641 rs374051556 CA296014645	1575	R>Q	Arthrogryposis, distal, with impaired proprioception and touch [ClinVar]	Yes	ClinGen ClinVar ESP TOPMed dbSNP gnomAD
RCV000760500 rs886039821 RCV000256348 CA10588850	1685	R>*	Arthrogryposis, distal, with impaired proprioception and touch [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000256311 rs886039823 CA10588852 VAR_077843	1685	R>P	Arthrogryposis, distal, with impaired proprioception and touch DAIPT [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
CA8892299 RCV000585317 rs373973800 RCV002530844	1853	R>H	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs998757704 RCV000624081 CA295991249	1860	D>N	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001091983 rs1057519425 RCV000415567	1874	L>missing	Arthrogryposis, distal, with impaired proprioception and touch [ClinVar]	Yes	ClinVar dbSNP
RCV001788164 CA8892279 rs4796901 RCV001788163 RCV001788165 RCV001723856 RCV001788166 RCV000254006	1898	E>Q	Gordon syndrome Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome Marden-Walker syndrome Arthrogryposis, distal, with impaired proprioception and touch [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs764171255 RCV000985071 CA295990522	1906	R>*	Arthrogryposis, distal, with impaired proprioception and touch [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA295990390 RCV000791194 rs1005911734	1942	T>M	Marden-Walker syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000503315 CA8892268 RCV002527281 rs112982077	1955	L>M	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs577065337 CA8892263 RCV002530577 RCV000917127 RCV000660518	1962	R>C	Inborn genetic diseases Arthrogryposis, distal, with impaired proprioception and touch [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000578908 rs1555627917 CA401909677 RCV000509063	1965	W>*	Arthrogryposis, distal, with impaired proprioception and touch [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000765400 rs200276831 RCV000500563 CA8892234	2046	E>Q	Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8892233 RCV000990071 rs113682091 RCV000250901 RCV001711728	2050	A>D	Arthrogryposis, distal, with impaired proprioception and touch [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001336566 rs2035219369	2092	T>missing	Gordon syndrome [ClinVar]	Yes	ClinVar dbSNP
rs878853139 CA10581453 RCV000224177	2221	T>I	Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs878853138 RCV000224843 CA10581452	2223	S>L	Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001270804 rs2035069170	2277	I>V	Arthrogryposis, distal, with impaired proprioception and touch [ClinVar]	Yes	ClinVar dbSNP
CA10581451 RCV000224492 rs878853137	2356	T>M	Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA8891965 rs757200280 RCV000626061	2382	R>W	Arthrogryposis, distal, with impaired proprioception and touch [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs2034210482 RCV001336567 RCV002546784	2490	E>*	Gordon syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000624079 rs745895175	2525	N>missing	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
RCV002527430 RCV001197288 rs147666072 RCV000514883 CA8891853	2544	A>T	Inborn genetic diseases Arthrogryposis, distal, with impaired proprioception and touch [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001329884 rs2033787153	2683	K>E	Gordon syndrome [ClinVar]	Yes	ClinVar dbSNP
CA163196 rs587777451 RCV000125479 RCV002283456 RCV001836735 VAR_071302	2686	R>C	Gordon syndrome Marden-Walker syndrome MWKS [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001250663 rs587777451 RCV002570427	2686	R>G	Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome [ClinVar]	Yes	ClinVar dbSNP
CA090890 VAR_071303 RCV000855472 RCV001091982 RCV000224805 RCV000125478 RCV003147342 RCV000623552 rs587777450	2686	R>H	Fetal akinesia deformation sequence 1 Gordon syndrome Inborn genetic diseases Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome Arthrogryposis, distal, with impaired proprioception and touch DA3 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs587777452 RCV000125480 VAR_071304 CA163197	2718	R>L	Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome DA5 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000125481 rs587777452 CA163198 VAR_071305	2718	R>P	Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome DA5 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000778125 CA401911836 RCV003148862 rs587777452	2718	R>Q	Gordon syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000487334 rs1555621138 RCV000224433 RCV000415170 RCV001007806	2727	E>missing	Gordon syndrome Distal arthrogryposis Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome [ClinVar]	Yes	ClinVar dbSNP
VAR_071818	2727	E>del	DA5; causes slowing of inactivation of PIEZO2-dependent mechanically activated currents as well as significantly faster recovery from inactivation compared to wild-type [UniProt]	Yes	UniProt
RCV000223972 rs878853135	2737	Y>missing	Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome [ClinVar]	Yes	ClinVar dbSNP
rs2033776473 RCV001251153	2739	S>L	Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000125483 VAR_071306 CA163200 rs587777454	2739	S>P	Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome DA5 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA163195 RCV000125477 rs724159993	2746	W>*	Gordon syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA296619938 rs939737622	2	A>V		No	ClinGen gnomAD
TCGA novel	3	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1276813954 CA402030481	4	E>K		No	ClinGen TOPMed
CA402030468 rs1568417565 RCV000785010	6	V>L		No	ClinGen ClinVar Ensembl dbSNP
CA402030460 rs1169177849	7	C>Y		No	ClinGen TOPMed
rs1599033931 CA402030451	8	G>A		No	ClinGen Ensembl
rs1372741057 CA402030453	8	G>R		No	ClinGen gnomAD
CA402030455 rs1372741057	8	G>W		No	ClinGen gnomAD
CA402030448 rs1301146784	9	L>V		No	ClinGen TOPMed
rs1048530216 CA296619936	12	R>S		No	ClinGen gnomAD
CA296619934 rs920937103	14	L>M		No	ClinGen Ensembl
rs1252002250 CA402030412	15	L>V		No	ClinGen TOPMed gnomAD
rs763720769 CA8892888	21	V>A		No	ClinGen ExAC gnomAD
CA402030344 rs1364166635	23	C>R		No	ClinGen gnomAD
CA8892883 rs759000106	24	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1036820674 CA296610257	25	F>L		No	ClinGen TOPMed
rs571918997 CA296610256	26	R>*		No	ClinGen 1000Genomes TOPMed gnomAD
rs1338267898 CA402030324	26	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs776564753 CA8892882	27	Y>H		No	ClinGen ExAC
rs1221401175 CA402030312	28	N>H		No	ClinGen TOPMed
rs772178114 CA8892881	29	G>V		No	ClinGen ExAC TOPMed gnomAD
CA8892880 rs760458761	30	L>V		No	ClinGen ExAC gnomAD
rs890959167 CA296610253	31	S>F		No	ClinGen TOPMed gnomAD
rs748116550 CA296610252	32	F>I		No	ClinGen TOPMed gnomAD
rs748116550 CA296610251	32	F>L		No	ClinGen TOPMed gnomAD
rs1050072209 CA296610250	34	Y>*		No	ClinGen TOPMed
CA402030274 rs1419799672	34	Y>C		No	ClinGen gnomAD
CA402030277 rs1411376101	34	Y>N		No	ClinGen gnomAD
rs375901716 CA8892879	36	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1046801960 CA296610249	42	P>H		No	ClinGen Ensembl
rs949402610 CA296610248	43	L>V		No	ClinGen Ensembl
rs932596927 CA296610247	45	S>L		No	ClinGen TOPMed gnomAD
rs1190752171 CA402030190	47	P>Q		No	ClinGen gnomAD
CA296610246 rs538545186	48	T>K		No	ClinGen 1000Genomes
CA296610245 rs908820221	50	T>M		No	ClinGen TOPMed gnomAD
CA402030174 rs1486194607	50	T>P		No	ClinGen gnomAD
CA296610243 rs371432372	51	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA296610244 rs778506919	51	T>S		No	ClinGen TOPMed gnomAD
CA402030156 rs1361875355	53	Q>K		No	ClinGen TOPMed
rs1316183316 CA402030152	53	Q>P		No	ClinGen gnomAD
CA402030153 rs1316183316	53	Q>R		No	ClinGen gnomAD
CA296599942 rs913165782	54	G>V		No	ClinGen Ensembl
rs145948919 RCV000953067 CA8892875 RCV000242269	55	H>P		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs957467830 CA296599941	56	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs879674484 CA402028727	58	R>L		No	ClinGen TOPMed gnomAD
CA296599940 rs879674484	58	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA8892873 rs142351929	58	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	60	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1456989099 CA402028594	61	K>N		No	ClinGen gnomAD
CA296599939 rs574038773	64	C>S		No	ClinGen 1000Genomes TOPMed gnomAD
rs1014032818 CA296599937	67	S>I		No	ClinGen Ensembl
rs1421224897 CA402028527	72	L>M		No	ClinGen gnomAD
CA402028519 rs1178255291	73	L>Q		No	ClinGen gnomAD
CA8892872 rs757777810	73	L>V		No	ClinGen ExAC gnomAD
CA8892870 rs778169191	74	H>Q		No	ClinGen ExAC gnomAD
rs751925471 CA8892871	74	H>R		No	ClinGen ExAC gnomAD
rs932171957 CA296599936	78	H>L		No	ClinGen TOPMed
CA8892869 rs370661809	80	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1217929975 CA402028463	81	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	82	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1473578503 CA402028450	83	S>R		No	ClinGen TOPMed
rs1415197380 CA402028446	84	L>F		No	ClinGen TOPMed gnomAD
CA402028444 rs1308170093	84	L>P		No	ClinGen TOPMed gnomAD
CA8892864 rs766288551	86	A>G		No	ClinGen ExAC gnomAD
CA8892865 rs753345300	86	A>T		No	ClinGen ExAC gnomAD
CA296599933 rs757533147	87	Q>*		No	ClinGen TOPMed gnomAD
CA296599934 rs757533147	87	Q>E		No	ClinGen TOPMed gnomAD
rs557549695 CA296599931	89	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD
CA8892862 rs368872771	89	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1361738068 CA402028403	91	A>S		No	ClinGen TOPMed gnomAD
rs374753475 CA8892861	91	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA402028394 rs1598775601	93	G>S		No	ClinGen Ensembl
CA296592317 rs1014757160	97	S>L		No	ClinGen TOPMed gnomAD
CA402028677 rs1297016222	99	W>C		No	ClinGen gnomAD
CA296592316 rs531358785	99	W>R		No	ClinGen 1000Genomes
CA402028657 rs1382313050	102	T>I		No	ClinGen TOPMed gnomAD
CA296592315 rs1004525435	104	R>Q		No	ClinGen TOPMed
rs1341628000 CA402028645	104	R>W		No	ClinGen TOPMed gnomAD
rs1298158319 CA402028637	105	Q>L		No	ClinGen gnomAD
rs1568190142 CA402028628	106	I>M		No	ClinGen Ensembl
CA402028625 rs1418223850	107	G>S		No	ClinGen TOPMed gnomAD
CA296592314 rs560887502	109	E>D		No	ClinGen 1000Genomes
TCGA novel	111	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1400281877 CA402030079	117	G>D		No	ClinGen gnomAD
CA402030082 rs1165476783	117	G>S		No	ClinGen TOPMed
CA296587601 rs183506545	118	N>S		No	ClinGen 1000Genomes
CA8892849 rs553064623	120	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402030046 rs1419506300	122	V>A		No	ClinGen TOPMed
rs1423079210 CA402030036	124	V>I		No	ClinGen TOPMed gnomAD
rs1423079210 CA402030035	124	V>L		No	ClinGen TOPMed gnomAD
rs1168439576 CA402030023	126	D>H		No	ClinGen gnomAD
rs958358461 CA296587600	128	G>E		No	ClinGen TOPMed gnomAD
rs958358461 CA402030005	128	G>V		No	ClinGen TOPMed gnomAD
CA402030002 rs1440517233	129	M>L		No	ClinGen TOPMed gnomAD
CA8892848 rs748446543	129	M>T		No	ClinGen ExAC
CA402030003 rs1440517233	129	M>V		No	ClinGen TOPMed gnomAD
rs1252197231 CA402029986	131	I>L		No	ClinGen gnomAD
rs778605742 CA8892847	131	I>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	132	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402029952 rs1237702556	136	I>L		No	ClinGen TOPMed
CA402029953 rs1237702556	136	I>V		No	ClinGen TOPMed
CA402029939 rs1456921759	137	W>C		No	ClinGen gnomAD
rs980975418 CA296587598	139	L>F		No	ClinGen TOPMed gnomAD
rs1255683023 CA402029913	141	R>S		No	ClinGen gnomAD
CA402029899 rs1234606310	143	I>T		No	ClinGen gnomAD
TCGA novel	144	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1359016274 CA402029890	145	Q>*		No	ClinGen gnomAD
rs1321331433 CA402029878	146	K>R		No	ClinGen Ensembl
CA402029874 rs1285330647	147	P>T		No	ClinGen TOPMed gnomAD
CA8892846 rs560268532	149	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1013496796 CA296587597	151	E>K		No	ClinGen TOPMed gnomAD
CA402029834 rs1447881873	153	A>S		No	ClinGen TOPMed gnomAD
CA296587596 rs1001558334	155	S>C		No	ClinGen TOPMed gnomAD
rs1598610023 CA402029816	155	S>R		No	ClinGen Ensembl
rs1001558334 CA402029822	155	S>R		No	ClinGen TOPMed gnomAD
CA402029815 rs765877353	156	N>D		No	ClinGen ExAC TOPMed gnomAD
CA8892844 rs765877353	156	N>H		No	ClinGen ExAC TOPMed gnomAD
rs755535591 CA8892843	156	N>K		No	ClinGen ExAC TOPMed gnomAD
CA296587595 rs1025310776	157	P>L		No	ClinGen TOPMed gnomAD
rs1391314972 CA402029807	157	P>S		No	ClinGen gnomAD
CA402029809 rs1391314972	157	P>T		No	ClinGen gnomAD
rs907913792 CA296587592	159	F>C		No	ClinGen TOPMed gnomAD
rs907913792 CA402029793	159	F>Y		No	ClinGen TOPMed gnomAD
CA296587591 rs1047561401	160	E>A		No	ClinGen TOPMed gnomAD
RCV000891821 rs1598590832	168	E>missing		No	ClinVar dbSNP
CA402029698 rs1437835806	169	K>T		No	ClinGen Ensembl
CA402029679 rs1195161101	171	D>E		No	ClinGen gnomAD
CA8892834 rs771065934	174	E>K		No	ClinGen ExAC gnomAD
TCGA novel	180	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs897800064 CA296585963	180	E>K		No	ClinGen TOPMed
TCGA novel	180	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA296585961 rs777196077	183	N>K		No	ClinGen TOPMed
rs753368785 CA296585962	183	N>S		No	ClinGen TOPMed gnomAD
rs914259854 CA296585960	190	G>S		No	ClinGen gnomAD
rs773775388 CA402029541	191	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1217758784 CA402029547	191	E>K		No	ClinGen TOPMed gnomAD
rs772566169 CA8892831	196	T>M		No	ClinGen ExAC gnomAD
rs772566169 CA402029505	196	T>R		No	ClinGen ExAC gnomAD
CA296585958 rs982262386	200	M>I		No	ClinGen TOPMed gnomAD
CA296585959 rs765849127	200	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA402029469 rs1342248019	201	F>S		No	ClinGen gnomAD
CA402029464 rs1298773035	202	R>C		No	ClinGen TOPMed gnomAD
rs760374118 CA296585957	202	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1332602102 CA402029456	203	R>S		No	ClinGen TOPMed gnomAD
CA296585956 rs908782010	204	L>F		No	ClinGen TOPMed
CA402029448 rs1358447285	205	A>S		No	ClinGen gnomAD
rs549093721 CA296585954	206	S>A		No	ClinGen 1000Genomes
CA8892828 rs527795460 RCV000887769	207	V>A		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1328370232 CA402029412	211	L>F		No	ClinGen gnomAD
rs1460560569 CA402029407	212	K>E		No	ClinGen TOPMed
CA296585953 rs550100859	212	K>R		No	ClinGen Ensembl
TCGA novel	213	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402029393 rs1170241402	214	F>L		No	ClinGen gnomAD
CA296585952 rs190492893	216	G>D		No	ClinGen 1000Genomes
CA402029378 rs1476126978	216	G>S		No	ClinGen gnomAD
CA402029373 rs1169678762	217	N>H		No	ClinGen TOPMed
CA8892825 rs146745925	218	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA402029345 rs1488162769	220	T>N		No	ClinGen gnomAD
CA8892824 rs186999439 RCV000976639	223	G>E		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1212693023 CA402029318	225	V>I		No	ClinGen gnomAD
CA402029313 rs1278221369	226	V>I		No	ClinGen TOPMed gnomAD
rs935092496 CA296585949	229	I>V		No	ClinGen TOPMed gnomAD
rs1294412093 CA402029279	231	L>P		No	ClinGen TOPMed
CA402029277 rs1320151471	232	G>S		No	ClinGen gnomAD
CA402029260 rs1278747199	234	S>L		No	ClinGen TOPMed gnomAD
rs959259668 CA296585803	237	M>T		No	ClinGen TOPMed
CA402029230 rs1315933286	237	M>V		No	ClinGen gnomAD
CA296585802 RCV000489499 rs927091191	238	L>W		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA8892818 rs776926434	239	P>L		No	ClinGen ExAC TOPMed gnomAD
CA402029206 rs1257708226	241	L>V		No	ClinGen TOPMed
CA402029205 rs1372009535	241	L>W		No	ClinGen gnomAD
CA402029195 rs1448622367	242	T>I		No	ClinGen gnomAD
CA402029188 rs1598588447	244	S>P		No	ClinGen Ensembl
CA402029167 rs1306034888	247	F>L		No	ClinGen gnomAD
TCGA novel	247	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402029150 rs1330023885	249	V>L		No	ClinGen gnomAD
CA402029132 rs1167583764	251	L>F		No	ClinGen gnomAD
TCGA novel	251	L>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402029125 rs1424743419	253	L>M		No	ClinGen gnomAD
rs1413603745 CA402029115	254	C>F		No	ClinGen gnomAD
rs1441714248 CA402029100	256	W>C		No	ClinGen gnomAD
rs983413824 CA296585797	258	S>C		No	ClinGen gnomAD
rs983413824 CA402029085	258	S>F		No	ClinGen gnomAD
rs762281198 CA8892813	261	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8892814 COSM986549 rs760632558	261	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs546609706 CA8892812	262	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1267123851 CA402029063	262	T>P		No	ClinGen gnomAD
CA8892810 rs749553994	264	D>E		No	ClinGen ExAC gnomAD
CA8892811 rs367678053	264	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA402029048 rs1310236262	264	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs267605115 CA296585796	265	P>Q		No	ClinGen Ensembl
rs1165660347 CA402029018	269	S>G		No	ClinGen gnomAD
rs1449372697 CA402028994	272	C>Y		No	ClinGen TOPMed
rs1295793985 CA402028934	282	H>N		No	ClinGen gnomAD
rs1458802183 CA402028913	284	I>T		No	ClinGen TOPMed gnomAD
TCGA novel	285	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA296585795 rs1052050225	288	L>I		No	ClinGen TOPMed gnomAD
rs1052050225 CA402028890	288	L>V		No	ClinGen TOPMed gnomAD
rs1312769659 CA402028868	291	F>L		No	ClinGen TOPMed
CA8892809 rs779759748	291	F>L		No	ClinGen ExAC gnomAD
CA8892808 rs528139925	294	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402028837 rs1417385892	295	Q>E		No	ClinGen gnomAD
rs745439812 CA8892807	295	Q>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	297	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402028818 rs1488085672	297	A>V		No	ClinGen gnomAD
rs1289537608 CA402028806	299	P>L		No	ClinGen gnomAD
CA402028798 COSM437902 rs1354206732	301	N>D	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1354206732 CA402028799	301	N>H		No	ClinGen gnomAD
CA296585794 rs932122119	301	N>S		No	ClinGen TOPMed gnomAD
rs973107284 CA296585793	302	D>H		No	ClinGen Ensembl
CA402028781 rs1301286483	303	Y>C		No	ClinGen gnomAD
CA402028784 rs1313591312	303	Y>H		No	ClinGen TOPMed gnomAD
rs751565062 CA402028776	304	Y>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs772402272 CA296585792	305	A>T		No	ClinGen Ensembl
CA296012984 rs544591502	309	G>C		No	ClinGen 1000Genomes
rs767619284 CA8892796	311	K>E		No	ClinGen ExAC gnomAD
rs1422854879 CA401927040	312	S>A		No	ClinGen gnomAD
CA8892795 rs374993280 RCV000879905	316	T>K		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA296012981 rs374993280	316	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA401926989 rs1256393650	319	S>*		No	ClinGen TOPMed gnomAD
rs1199581119 CA401926984	320	S>N		No	ClinGen gnomAD
CA296012946 rs555885505	322	W>S		No	ClinGen 1000Genomes TOPMed
rs769081691 CA8892793	325	I>L		No	ClinGen ExAC gnomAD
rs201187703 CA401926947	325	I>R		No	ClinGen gnomAD
rs201187703 CA296012928	325	I>T		No	ClinGen gnomAD
CA401926942 rs1375652890	326	V>A		No	ClinGen gnomAD
rs1598509399 CA401926936	327	N>T		No	ClinGen Ensembl
CA296012921 rs762063796	328	P>L		No	ClinGen TOPMed gnomAD
CA401926923 rs1598509369	329	D>A		No	ClinGen Ensembl
TCGA novel	331	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV000895034 CA296012903 rs942548867	331	S>L		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA8892792 rs763439232	335	H>D		No	ClinGen ExAC gnomAD
RCV000923177 CA8892791 rs368601054	336	A>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs769533876 CA8892790	337	N>S		No	ClinGen ExAC gnomAD
rs766490338 CA14545353	338	P>L		No	ClinGen TOPMed gnomAD
rs745478486 CA8892789	338	P>T		No	ClinGen ExAC gnomAD
rs918813877 CA296012883	339	I>V		No	ClinGen TOPMed gnomAD
rs1190950075 CA401926841	340	L>F		No	ClinGen TOPMed
rs1239646588 CA401926788	344	M>I		No	ClinGen gnomAD
rs1442335119 CA401926799	344	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1158936000 CA401926756	346	Y>C		No	ClinGen TOPMed gnomAD
CA401926745 rs1178675842	347	T>N		No	ClinGen TOPMed gnomAD
CA401926718 rs1359076720	350	T>A		No	ClinGen gnomAD
CA8892786 rs746454490	353	R>C		No	ClinGen ExAC TOPMed gnomAD
CA296012869 rs750182837	353	R>H		No	ClinGen gnomAD
CA401926680 rs750182837	353	R>L		No	ClinGen gnomAD
CA401926667 rs1311788797	354	I>M		No	ClinGen TOPMed gnomAD
CA401926671 rs1380804163	354	I>T		No	ClinGen gnomAD
CA296012847 rs866138524	357	Q>R		No	ClinGen Ensembl
CA401926623 rs1406952811	358	E>*		No	ClinGen gnomAD
rs1363109151 CA401926026	361	V>A		No	ClinGen TOPMed
CA401926020 rs1173776803	362	Q>*		No	ClinGen gnomAD
CA296011072 rs908112588	362	Q>H		No	ClinGen TOPMed
CA401926006 rs1478091711	363	D>N		No	ClinGen gnomAD
CA401925946 rs1378695024	367	K>T		No	ClinGen gnomAD
CA8892777 rs761882287	369	E>Q		No	ClinGen ExAC gnomAD
CA401925896 rs1489960608	370	D>E		No	ClinGen TOPMed gnomAD
CA401925882 rs1265711106	371	K>I		No	ClinGen TOPMed gnomAD
CA296011053 rs991673822	372	A>T		No	ClinGen TOPMed gnomAD
rs1446591312 CA401925872	372	A>V		No	ClinGen TOPMed gnomAD
CA401925840 rs1282462599	375	C>Y		No	ClinGen gnomAD
rs569707825 CA296011050	376	S>R		No	ClinGen 1000Genomes
rs751631562 CA8892776	377	P>A		No	ClinGen ExAC TOPMed gnomAD
CA8892775 rs764717698	381	T>I		No	ClinGen ExAC
rs1035950451 CA296011025	382	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA401925747 rs1298525522	383	G>V		No	ClinGen gnomAD
TCGA novel	383	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA296011002 rs144943561	385	R>K		No	ClinGen 1000Genomes
CA296010993 rs962106943	386	R>Q		No	ClinGen TOPMed gnomAD
rs536250412 RCV000982211 CA8892773	386	R>W		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs371514584 CA296010980	387	S>G		No	ClinGen TOPMed gnomAD
CA296010969 rs887870964	391	A>G		No	ClinGen Ensembl
CA401925659 rs749474073	391	A>S		No	ClinGen TOPMed gnomAD
rs749474073 CA296010975	391	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA401925634 rs1426438255	393	H>D		No	ClinGen gnomAD
rs1028746920 CA296010966	393	H>R		No	ClinGen TOPMed
CA401925632 rs1426438255	393	H>Y		No	ClinGen gnomAD
rs1314317504 CA401925599	395	P>L		No	ClinGen TOPMed gnomAD
rs995976086 CA296010961	396	T>A		No	ClinGen Ensembl
rs780240231 CA296010957	396	T>N		No	ClinGen TOPMed gnomAD
rs780240231 CA401925593	396	T>S		No	ClinGen TOPMed gnomAD
CA401925567 rs1475316034	398	E>V		No	ClinGen gnomAD
CA401925551 rs1453909658	399	R>K		No	ClinGen TOPMed
rs1174369968 CA401925527	400	K>R		No	ClinGen TOPMed
CA8892766 rs772083816	401	L>F		No	ClinGen ExAC TOPMed gnomAD
CA401925483 rs1417900813	402	L>F		No	ClinGen gnomAD
CA401925480 rs1359731394	403	S>P		No	ClinGen TOPMed
rs1445408044 CA401925460	406	Q>*		No	ClinGen gnomAD
CA401925446 rs1475571523	407	D>E		No	ClinGen gnomAD
CA8892765 rs61978645 RCV000883503	409	Y>C		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1181794331 CA401925420	411	P>A		No	ClinGen TOPMed gnomAD
CA401925419 rs1181794331	411	P>T		No	ClinGen TOPMed gnomAD
CA401925411 rs1487904557	412	S>C		No	ClinGen TOPMed
CA296008919 rs969641532	413	D>G		No	ClinGen gnomAD
CA401925387 rs1598498608	414	G>A		No	ClinGen Ensembl
CA401925390 rs1248417082	414	G>S		No	ClinGen gnomAD
rs1598498589 CA401925371	417	V>G		No	ClinGen Ensembl
CA401925364 rs1568072927	418	T>I		No	ClinGen Ensembl
CA401925358 rs1480754845	419	V>G		No	ClinGen TOPMed
rs1305605608 CA401925346	421	G>D		No	ClinGen TOPMed gnomAD
rs202104395 COSM1480222 CA8892751	421	G>S	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA8892749 rs145013609 RCV000885430	422	N>I		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs540196584 CA8892748	422	N>K		No	ClinGen ExAC gnomAD
CA401925341 rs145013609	422	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8892747 rs774164796	423	P>A		No	ClinGen ExAC gnomAD
CA401925337 rs774164796	423	P>S		No	ClinGen ExAC gnomAD
CA8892746 rs768638341	424	V>M		No	ClinGen ExAC TOPMed gnomAD
CA401925313 rs1301680689	426	Y>*		No	ClinGen TOPMed gnomAD
TCGA novel	427	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401925292 rs1407341040	429	I>M		No	ClinGen TOPMed
CA401925287 rs1421816630	430	H>P		No	ClinGen gnomAD
CA401925288 rs1421816630	430	H>R		No	ClinGen gnomAD
rs1364578493 CA401925271	432	S>R		No	ClinGen gnomAD
CA401925253 rs1417355444	435	M>R		No	ClinGen gnomAD
CA296008176 rs988662988	436	E>K		No	ClinGen gnomAD
CA401925238 rs1284619246	437	N>S		No	ClinGen TOPMed
CA8892745 rs763065483	438	G>S		No	ClinGen ExAC gnomAD
CA401925224 rs1218497562	439	P>L		No	ClinGen gnomAD
rs1486015917 CA401925204	442	A>V		No	ClinGen TOPMed gnomAD
rs1236286700 CA401925202	443	D>N		No	ClinGen TOPMed gnomAD
rs1313384629 CA401925198	443	D>V		No	ClinGen gnomAD
rs1304060253 CA401925179	446	S>A		No	ClinGen gnomAD
CA401925172 rs1290844138	447	T>I		No	ClinGen TOPMed
rs956115182 CA296008113	450	Y>H		No	ClinGen Ensembl
rs747264342 CA401925146	451	R>L		No	ClinGen ExAC TOPMed gnomAD
CA8892742 rs747264342	451	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs757512135 CA8892743	451	R>W		No	ClinGen ExAC TOPMed gnomAD
CA776073893 rs1420177459	452	W>*		No	ClinGen Ensembl
CA401925144 rs1402203589	452	W>R		No	ClinGen gnomAD
CA401925129 rs1385987056	453	E>D		No	ClinGen gnomAD
CA401925132 rs1598498314	453	E>G		No	ClinGen Ensembl
TCGA novel	455	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	457	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778003564 CA8892741	458	S>C		No	ClinGen ExAC TOPMed gnomAD
rs1451736408	459	S>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA401925092 rs1568072631	459	S>L		No	ClinGen Ensembl
CA401925065 rs1469323677	461	K>R		No	ClinGen gnomAD
rs1403852584 CA401925058	462	R>Q		No	ClinGen TOPMed gnomAD
rs1172664699 CA401925055	463	E>Q		No	ClinGen gnomAD
TCGA novel	464	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401925048 rs1372358248	464	E>K		No	ClinGen gnomAD
CA401925036 rs1243343111	465	E>G		No	ClinGen gnomAD
rs1383443423 CA401925040	465	E>K		No	ClinGen gnomAD
CA401925031 rs1169817304	466	E>Q		No	ClinGen TOPMed
CA401925024 rs1182477939	467	E>K		No	ClinGen TOPMed gnomAD
CA296006194 rs998208177	471	E>Q		No	ClinGen TOPMed gnomAD
rs1366546138 CA401924980	472	F>C		No	ClinGen TOPMed
CA401924977 rs1441321018	473	E>K		No	ClinGen TOPMed
rs772812069 CA296006179	474	E>K		No	ClinGen TOPMed gnomAD
rs1198002920 CA401924954	476	R>G		No	ClinGen gnomAD
CA401924953 rs1198002920	476	R>W		No	ClinGen gnomAD
CA8892731 rs371517199 COSM986545	478	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA8892730 rs181395487	478	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA296006168 rs181395487	478	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs76550691 CA296006157	481	K>E		No	ClinGen Ensembl
rs534855857 CA296006152	483	S>N		No	ClinGen TOPMed gnomAD
CA401924891 rs1315942746	485	K>E		No	ClinGen gnomAD
rs1219544505 CA401924884	486	V>I		No	ClinGen TOPMed
rs1598494173 RCV000996646	488	A>missing		No	ClinVar dbSNP
CA401924867 rs867838784	488	A>D		No	ClinGen TOPMed
CA401924870 rs1265081895	488	A>T		No	ClinGen TOPMed
rs867838784 CA296006149	488	A>V		No	ClinGen TOPMed
rs1195871121 CA401924862	489	M>T		No	ClinGen TOPMed
rs1246532786 CA401924853	490	V>G		No	ClinGen TOPMed
CA8892728 rs374440910	492	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1391954929 CA401924831	494	Q>K		No	ClinGen gnomAD
CA401924827 rs1395659841	494	Q>R		No	ClinGen gnomAD
CA296006137 rs903940206	496	I>V		No	ClinGen TOPMed
rs755640921 CA296006126	497	M>V		No	ClinGen gnomAD
CA401924784 rs1459214617	500	S>R		No	ClinGen gnomAD
CA401924765 rs1162134011	502	I>T		No	ClinGen TOPMed
CA401924748 rs1461590229	505	L>I		No	ClinGen TOPMed
rs1162470251 CA401924743	505	L>R		No	ClinGen gnomAD
rs1024446210 CA296006123	507	A>S		No	ClinGen Ensembl
CA8892721 rs745605614	510	A>V		No	ClinGen ExAC gnomAD
RCV000498230 rs1555648285 CA401924681	512	S>N		No	ClinGen ClinVar Ensembl dbSNP
rs1037105395 CA296004762	515	Y>C		No	ClinGen TOPMed gnomAD
rs777924794 CA8892720	515	Y>H		No	ClinGen ExAC gnomAD
rs944137492 CA296004759	518	W>R		No	ClinGen TOPMed
CA401924627 rs1309270757	520	T>S		No	ClinGen TOPMed
CA401924622 rs1349972406	521	F>L		No	ClinGen gnomAD
CA401924621 rs1349972406	521	F>V		No	ClinGen gnomAD
CA8892719 rs772324794	522	V>A		No	ClinGen ExAC gnomAD
CA401924615 rs1225343618	522	V>M		No	ClinGen TOPMed gnomAD
CA8892717 rs779017622	525	I>T		No	ClinGen ExAC gnomAD
rs1312525484 CA401924562	526	W>C		No	ClinGen TOPMed
rs1236161907 CA401924531	529	T>A		No	ClinGen TOPMed
rs1299087222 CA401924519	529	T>I		No	ClinGen gnomAD
rs1382231812 CA401924513	530	L>F		No	ClinGen gnomAD
CA296004738 rs932520673	532	M>K		No	ClinGen TOPMed
rs1179189392 CA401924486	532	M>V		No	ClinGen TOPMed
rs754416267 CA8892715	534	R>H		No	ClinGen ExAC TOPMed gnomAD
rs754416267 CA401924441	534	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1481735920 CA401924390	538	K>I		No	ClinGen gnomAD
rs868273217 CA296004709	540	A>V		No	ClinGen Ensembl
rs925624319 CA296004702	547	M>L		No	ClinGen Ensembl
rs990498963 CA296004698	548	V>M		No	ClinGen TOPMed
CA296004694 rs544406740	549	V>F		No	ClinGen gnomAD
CA401924186 rs1479633769	553	L>I		No	ClinGen gnomAD
rs978512526 CA296004692	554	L>*		No	ClinGen TOPMed
TCGA novel	555	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401924155 rs1216686916	555	L>S		No	ClinGen TOPMed gnomAD
TCGA novel	557	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1334019255 CA401924108	558	Q>H		No	ClinGen TOPMed
rs1282316647 CA401924076	560	I>M		No	ClinGen TOPMed gnomAD
rs1299914052 CA401924086	560	I>V		No	ClinGen gnomAD
rs955888636 CA296004690	561	W>R		No	ClinGen TOPMed
CA401924032 rs1273858985	563	F>Y		No	ClinGen TOPMed
CA296004685 rs916721248	568	I>M		No	ClinGen gnomAD
CA401923932 rs1225002229	570	K>E		No	ClinGen TOPMed
CA401923928 rs1221483459	570	K>T		No	ClinGen gnomAD
rs1370154052 CA401923918	571	V>I		No	ClinGen TOPMed gnomAD
rs1363735070 CA401923885	573	G>A		No	ClinGen gnomAD
CA401923883 rs1363735070	573	G>V		No	ClinGen gnomAD
CA401923859 rs1317087099	575	L>F		No	ClinGen TOPMed
CA401923863 rs1270553729	575	L>V		No	ClinGen gnomAD
CA401923842 rs1429665340 CA401923843	577	K>N		No	ClinGen gnomAD
CA401923837 rs1324302190	578	K>E		No	ClinGen gnomAD
rs1469832719 CA401923809	579	E>D		No	ClinGen gnomAD
rs1338182403 CA401923821	579	E>Q		No	ClinGen gnomAD
rs990982191 CA296004681	581	G>R		No	ClinGen Ensembl
CA296002775 rs761906667	587	I>T		No	ClinGen Ensembl
CA401923229 rs1222553205	589	F>S		No	ClinGen TOPMed
rs1208762160 CA401923190	592	T>I		No	ClinGen TOPMed
rs1208762160 CA401923191	592	T>S		No	ClinGen TOPMed
rs1165637434 CA401923158	594	W>C		No	ClinGen gnomAD
CA401923125 rs1249367360	598	R>K		No	ClinGen TOPMed
rs1180171189 CA401923108	599	Q>R		No	ClinGen gnomAD
CA401923094 rs1233348618	600	H>L		No	ClinGen gnomAD
rs1246343214 CA401923013	606	A>V		No	ClinGen gnomAD
rs1312338595 CA401922988	609	E>K		No	ClinGen gnomAD
rs1224934956 CA401922980	609	E>V		No	ClinGen gnomAD
CA8892706 rs775420431	612	A>V		No	ClinGen ExAC gnomAD
TCGA novel	613	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401922918 rs1237831481	614	L>S		No	ClinGen TOPMed
CA401922905 rs1299190916	615	S>W		No	ClinGen TOPMed gnomAD
CA296002768 rs1026521726	619	I>V		No	ClinGen TOPMed
CA401922822 rs1161435450	622	Q>R		No	ClinGen TOPMed
CA401922807 rs1305329239	623	E>G		No	ClinGen gnomAD
TCGA novel	625	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8892704 rs374065932	626	E>K		No	ClinGen ESP ExAC gnomAD
rs375721417 CA8892695	628	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1405895022 CA401922629	629	E>*		No	ClinGen TOPMed gnomAD
rs746270187 CA401922558	633	D>E		No	ClinGen ExAC gnomAD
rs1345933155 CA401922518	636	V>L		No	ClinGen gnomAD
CA296001870 rs953933828	638	G>R		No	ClinGen TOPMed gnomAD
rs1401542645 CA401922469	639	E>D		No	ClinGen TOPMed
rs545457587 CA8892693	640	P>H		No	ClinGen 1000Genomes ExAC gnomAD
CA401922458 rs545457587	640	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1598482424 CA401922464	640	P>S		No	ClinGen Ensembl
TCGA novel	641	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1199920492 CA401922447	641	K>R		No	ClinGen gnomAD
rs1264838658 CA401922416	643	E>G		No	ClinGen TOPMed gnomAD
rs1187837253 CA401922403	644	E>K		No	ClinGen gnomAD
rs1485986412 CA401922387	645	E>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1259684773 CA401922381	645	E>V		No	ClinGen gnomAD
CA296001868 rs1021262669	647	E>D		No	ClinGen TOPMed gnomAD
CA8892692 rs757523983	648	A>V		No	ClinGen ExAC TOPMed gnomAD
CA296001858 rs989792048	649	K>T		No	ClinGen TOPMed
rs1265493119 CA401922278	652	K>E		No	ClinGen gnomAD
TCGA novel	654	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401922231 rs1299642582	655	R>G		No	ClinGen gnomAD
rs756753673 CA296001841	658	V>G		No	ClinGen TOPMed gnomAD
rs903875952 CA296001835	661	E>K		No	ClinGen Ensembl
CA296001833 rs183063250	662	E>A		No	ClinGen 1000Genomes gnomAD
CA296001830 rs868509339	663	A>D		No	ClinGen Ensembl
TCGA novel	664	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA296001826 rs1031198385	666	E>D		No	ClinGen TOPMed gnomAD
CA401922062 rs1347428824	666	E>G		No	ClinGen gnomAD
rs1209897737 CA401922040	667	D>V		No	ClinGen TOPMed
CA296001817 rs1012750338	668	E>A		No	ClinGen gnomAD
CA401922021 rs1408236212	668	E>D		No	ClinGen gnomAD
rs1471315693 CA401922035	668	E>K		No	ClinGen TOPMed gnomAD
CA401922003 rs1469103674	669	Q>H		No	ClinGen TOPMed gnomAD
CA401922008 rs1410504833	669	Q>L		No	ClinGen TOPMed gnomAD
rs1375783849 CA401921981	671	I>V		No	ClinGen gnomAD
CA401921959 rs1598482234	672	M>R		No	ClinGen Ensembl
CA401921966 rs1172246675	672	M>V		No	ClinGen gnomAD
rs896288098 CA296001814	674	V>D		No	ClinGen TOPMed gnomAD
CA401921912 rs1393504347	676	G>V		No	ClinGen TOPMed
rs1462222304 CA401921909	677	N>Y		No	ClinGen gnomAD
CA296001787 rs906664567	682	M>T		No	ClinGen TOPMed gnomAD
CA401921818 rs1377770994	684	I>V		No	ClinGen TOPMed
CA401921729 rs867773982	690	V>F		No	ClinGen TOPMed gnomAD
CA296001784 rs867773982	690	V>I		No	ClinGen TOPMed gnomAD
rs1199635024 CA401921712	691	C>Y		No	ClinGen gnomAD
CA401921686 rs1297078519	693	G>S		No	ClinGen TOPMed gnomAD
rs1038029538 CA296001783	694	M>T		No	ClinGen TOPMed gnomAD
CA401921607 rs1337462159	698	V>A		No	ClinGen gnomAD
CA296001780 rs751229811	701	E>K		No	ClinGen gnomAD
TCGA novel	706	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401921427 rs1169461234	710	I>V		No	ClinGen gnomAD
rs587777453 CA401921412	712	M>L		No	ClinGen gnomAD
rs1372164065 CA401921403 CA401921404	713	V>L		No	ClinGen TOPMed gnomAD
rs765207222 CA8892686	714	L>M		No	ClinGen ExAC gnomAD
CA401921392 rs1446077627	715	F>L		No	ClinGen gnomAD
rs1182420967 CA401921382	716	L>R		No	ClinGen gnomAD
CA401921368 rs1442390138	718	C>F		No	ClinGen gnomAD
rs1442390138 CA401921369	718	C>Y		No	ClinGen gnomAD
CA401921359 rs1254639904	720	A>T		No	ClinGen gnomAD
rs1481129284 CA401921352	721	L>V		No	ClinGen TOPMed gnomAD
CA296001767 rs931290744	722	Y>H		No	ClinGen TOPMed gnomAD
rs1354261347 CA401920917	725	H>R		No	ClinGen gnomAD
CA401920879 rs1239754431	730	R>G		No	ClinGen TOPMed gnomAD
rs1349776902 CA401920875	730	R>K		No	ClinGen gnomAD
CA401920856 rs1406499370	733	L>V		No	ClinGen gnomAD
rs1345775733 CA401920841	735	Y>C		No	ClinGen TOPMed gnomAD
rs1403097297 CA401920821	737	W>C		No	ClinGen gnomAD
rs936097460 CA296000812	737	W>R		No	ClinGen TOPMed
CA401920815 rs1249000063	738	M>I		No	ClinGen TOPMed
rs770245814 CA8892673	738	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1411826421 CA401920764	746	L>M		No	ClinGen TOPMed gnomAD
rs1180503825 CA401920761	746	L>P		No	ClinGen TOPMed gnomAD
rs1568056934 CA401920731	751	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA296000810 rs1015803761	752	Y>C		No	ClinGen TOPMed gnomAD
CA401920723 rs1481592750	752	Y>D		No	ClinGen gnomAD
rs1198507424 CA401920713	753	T>I		No	ClinGen gnomAD
rs1286490714 CA401920695	756	F>L		No	ClinGen gnomAD
CA296000809 rs1004466429	756	F>S		No	ClinGen Ensembl
rs1386016735 CA401920671	759	F>L		No	ClinGen TOPMed
rs1205759025 CA401920660	760	P>L		No	ClinGen gnomAD
rs1328428242 CA401920656	761	G>A		No	ClinGen gnomAD
rs200626126 CA296000808	765	N>K		No	ClinGen TOPMed gnomAD
rs1347369929 CA401920623	766	M>V		No	ClinGen TOPMed
rs6505592 CA401920603	769	L>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs6505592 CA401920602	769	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1345835035 CA401920595	770	K>R		No	ClinGen TOPMed gnomAD
CA401920578 rs1274019731	772	E>G		No	ClinGen gnomAD
CA401920557 rs1341069001	773	K>N		No	ClinGen gnomAD
TCGA novel	777	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1598477167 CA919929379	781	Q>L*		No	ClinGen Ensembl
rs1216788360 CA401920478	785	A>T		No	ClinGen TOPMed
rs1598477146 CA401920473	785	A>V		No	ClinGen Ensembl
rs1598477132 CA401920468	786	E>G		No	ClinGen Ensembl
rs1455100565 CA401920472	786	E>K		No	ClinGen gnomAD
CA8892664 rs754393582	788	F>L		No	ClinGen ExAC gnomAD
rs1333961469 CA401920447	789	T>I		No	ClinGen gnomAD
CA401920444 rs1413072847	790	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1056153075 CA295999863	790	R>H		No	ClinGen TOPMed gnomAD
CA295999853 rs1009280756	791	I>V		No	ClinGen gnomAD
CA401920419 rs1449086068	794	P>A		No	ClinGen gnomAD
CA401920413 RCV000658127 rs1555646155	795	T>A		No	ClinGen ClinVar Ensembl dbSNP
CA401920384 rs1388457434	800	V>M		No	ClinGen gnomAD
rs368668265 CA8892663	804	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs761844949 CA295999847	805	L>P		No	ClinGen Ensembl
CA401920342 rs1598477039	806	H>R		No	ClinGen Ensembl
TCGA novel	807	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1207778134 CA401920316	809	H>Q		No	ClinGen gnomAD
rs1273445339 CA401920303	811	R>L		No	ClinGen gnomAD
CA401920305 rs1273445339	811	R>Q		No	ClinGen gnomAD
CA8892661 rs760582437	811	R>W		No	ClinGen ExAC gnomAD
CA401920301 rs1568054350 COSM222349	812	F>L	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1253547633 CA401920288	814	E>K		No	ClinGen gnomAD
CA401920280 rs1227294636	815	L>I		No	ClinGen gnomAD
rs1339608775 CA401920273	816	T>A		No	ClinGen gnomAD
rs1190579381 CA401920269	816	T>I		No	ClinGen TOPMed
rs1246023353 CA401920264	817	D>E		No	ClinGen gnomAD
CA8892660 rs375966918	817	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA8892659 rs375966918	817	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs927599746 CA295999831	818	L>F		No	ClinGen TOPMed
rs1380560202 CA401920241	821	I>F		No	ClinGen gnomAD
CA401920243 rs1380560202	821	I>L		No	ClinGen gnomAD
rs1284061415 CA401920231	822	P>L		No	ClinGen gnomAD
CA401920226 rs1446284188	823	S>T		No	ClinGen gnomAD
rs1356710306 CA401920214	825	E>K		No	ClinGen gnomAD
CA401920198 rs1309005031	827	N>H		No	ClinGen gnomAD
rs763239272 CA8892658	827	N>S		No	ClinGen ExAC gnomAD
CA401920191 rs1368911474	828	T>A		No	ClinGen TOPMed gnomAD
CA401920187 rs775818446	828	T>I		No	ClinGen ExAC TOPMed gnomAD
rs775818446 CA8892657	828	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1399876259 CA401918781	833	A>V		No	ClinGen gnomAD
CA295993780 rs750906972	835	P>L		No	ClinGen TOPMed gnomAD
CA401918725 rs1369514259	836	E>D		No	ClinGen gnomAD
rs868689716 CA295993758	837	G>R		No	ClinGen TOPMed
rs761199576 CA8892634	838	S>G		No	ClinGen ExAC gnomAD
rs1258280544 CA401918695	838	S>T		No	ClinGen TOPMed
CA401918678 rs1445863256	839	L>F		No	ClinGen TOPMed gnomAD
rs529806981 CA295993739	840	P>L		No	ClinGen 1000Genomes TOPMed gnomAD
CA401918655 rs529806981	840	P>R		No	ClinGen 1000Genomes TOPMed gnomAD
CA401918593 rs1254568295	843	T>I		No	ClinGen TOPMed gnomAD
CA401918601 rs1423727135	843	T>S		No	ClinGen TOPMed gnomAD
CA401918588 rs1401404396	844	M>V		No	ClinGen gnomAD
rs772436073 CA8892632	845	M>T		No	ClinGen ExAC gnomAD
rs1011220317 CA295993732	846	H>L		No	ClinGen gnomAD
CA401918530 rs1011220317	846	H>P		No	ClinGen gnomAD
CA401918533 rs1483520376	846	H>Y		No	ClinGen TOPMed gnomAD
rs1203127478 CA401918495	848	T>S		No	ClinGen gnomAD
CA401918487 rs1171702868	849	A>V		No	ClinGen TOPMed
COSM4140002 CA401918416 rs748442453	854	P>L	ovary [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA8892631 rs748442453	854	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA8892629 rs768177162	856	V>A		No	ClinGen ExAC gnomAD
rs1037318951 CA295993702	856	V>M		No	ClinGen TOPMed gnomAD
TCGA novel	857	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1410156162 CA401918328	859	L>S		No	ClinGen gnomAD
rs761651336 CA295993679	860	A>D		No	ClinGen Ensembl
rs1349514600 CA401918263	862	P>S		No	ClinGen gnomAD
TCGA novel	863	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401918148 rs1426162782	868	E>V		No	ClinGen gnomAD
CA401918134 rs1287621103	869	G>S		No	ClinGen TOPMed
rs1390896501 CA401918124	869	G>V		No	ClinGen TOPMed gnomAD
CA8892628 rs748881483	870	Y>*		No	ClinGen ExAC gnomAD
CA401918116 rs1034085783	870	Y>H		No	ClinGen TOPMed
CA295993667 RCV000887250 rs1034085783	870	Y>N		No	ClinGen ClinVar TOPMed dbSNP
CA295993652 rs1001732897	871	S>T		No	ClinGen TOPMed gnomAD
rs779405614 CA8892627	873	K>E		No	ClinGen ExAC TOPMed gnomAD
rs779405614 CA295993650	873	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs1184816293 CA401918047	874	A>P		No	ClinGen gnomAD
CA401918032 rs1251364710	875	Q>K		No	ClinGen gnomAD
rs532282380 CA295993639	875	Q>R		No	ClinGen 1000Genomes gnomAD
TCGA novel	878	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401917917 rs1453524067	883	S>I		No	ClinGen gnomAD
CA295993624 rs1013706970	883	S>R		No	ClinGen TOPMed gnomAD
rs369232281 CA8892626	884	E>K		No	ClinGen ExAC TOPMed gnomAD
CA295993615 rs369232281	884	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1047315543 CA295993609	885	E>K		No	ClinGen Ensembl
CA401917849 rs1269882613	889	D>N		No	ClinGen TOPMed gnomAD
rs1474312621 CA401917802	893	E>K		No	ClinGen TOPMed
CA401917753 rs1322336749	897	E>K		No	ClinGen TOPMed gnomAD
CA401917752 rs1322336749	897	E>Q		No	ClinGen TOPMed gnomAD
rs1345075131 CA401917676	902	T>I		No	ClinGen TOPMed
rs765555471 CA8892621	902	T>S		No	ClinGen ExAC TOPMed gnomAD
rs762219783 CA8892614	905	L>*		No	ClinGen ExAC gnomAD
rs1403190542 CA401917376	912	V>G		No	ClinGen gnomAD
TCGA novel	913	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1172286223 CA401917366	913	I>T		No	ClinGen gnomAD
rs1477156572 CA401917349	914	D>E		No	ClinGen TOPMed gnomAD
rs774554263 CA8892613	915	R>C		No	ClinGen ExAC TOPMed gnomAD
CA8892612 rs189477642	915	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA401917323 rs1396558309	917	T>A		No	ClinGen TOPMed
rs899423421 CA295991820	917	T>S		No	ClinGen TOPMed gnomAD
rs1300854919 CA401917314	918	V>M		No	ClinGen TOPMed
CA401917304 rs1442719409	919	L>I		No	ClinGen gnomAD
TCGA novel	925	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1036899669 CA295991810	931	Q>*		No	ClinGen TOPMed
rs1285119963 CA401917128	932	V>L		No	ClinGen TOPMed
CA401917111 rs1305763813	933	F>S		No	ClinGen TOPMed
rs1343827402 CA401917096	934	M>I		No	ClinGen gnomAD
rs1198428801 CA401917104	934	M>V		No	ClinGen gnomAD
TCGA novel	936	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401917048 rs1297735094	937	I>M		No	ClinGen gnomAD
rs1226967553 CA401916978	943	I>F		No	ClinGen TOPMed gnomAD
CA401916961 rs1365120081	944	K>R		No	ClinGen gnomAD
rs1013027921 CA295991801	946	V>I		No	ClinGen TOPMed gnomAD
TCGA novel	951	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA295991790 rs894668625	952	W>C		No	ClinGen gnomAD
rs1169323245 CA401916885	955	V>L		No	ClinGen gnomAD
rs1056526470 CA295987006	958	V>M		No	ClinGen TOPMed
CA8892601 rs766517641 CA296032818	961	F>L		No	ClinGen ExAC gnomAD
rs879151738 CA296032804	962	N>K		No	ClinGen Ensembl
rs938100314 CA296032787	963	Y>C		No	ClinGen Ensembl
rs573025837 CA296032777	964	V>A		No	ClinGen 1000Genomes
rs1162546084 CA401924523	966	L>F		No	ClinGen TOPMed gnomAD
rs1473412430 CA401924514	967	I>T		No	ClinGen gnomAD
rs1181090466 CA401924499	968	S>F		No	ClinGen gnomAD
CA401924482 rs1568030788	969	W>C		No	ClinGen Ensembl
rs1479442698 CA401924495	969	W>R		No	ClinGen gnomAD
CA401924476 rs1568030776	970	A>D		No	ClinGen Ensembl
CA401924468 rs1267478261	971	F>L		No	ClinGen TOPMed
CA296032764 rs949254477	971	F>L		No	ClinGen Ensembl
CA401924435 rs1221605689	974	P>A		No	ClinGen gnomAD
rs150545165 CA296032761	974	P>L		No	ClinGen 1000Genomes TOPMed gnomAD
CA401924409 rs1331740910	976	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA401924371 rs1289361447	979	R>C		No	ClinGen gnomAD
CA401924364 rs1409494922	979	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs542441369 CA296032729	980	R>C		No	ClinGen TOPMed gnomAD
rs200121260 RCV000963521 CA8892596	980	R>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA401924341 rs536168003	982	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8892594 rs536168003	982	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA401924322 rs1215549582	984	S>G		No	ClinGen TOPMed
CA401924269 rs1412507487	988	V>I		No	ClinGen TOPMed gnomAD
rs983007999 CA296032697	990	T>M		No	ClinGen TOPMed gnomAD
rs1191278263 CA401924203	992	V>A		No	ClinGen gnomAD
CA296032696 rs1017749700	992	V>M		No	ClinGen Ensembl
rs769568043 CA8892592	994	I>V		No	ClinGen ExAC
CA296032670 rs776666346	995	V>I		No	ClinGen TOPMed gnomAD
CA296032643 rs111367812	999	L>F		No	ClinGen Ensembl
rs1186893765 CA401924110	999	L>S		No	ClinGen TOPMed
rs1315366232 CA401924046	1004	T>A		No	ClinGen gnomAD
CA401924034 rs1247903868	1005	I>V		No	ClinGen TOPMed gnomAD
rs1220033297 CA401924011	1006	K>N		No	ClinGen gnomAD
rs1301315499 CA401923968	1009	N>K		No	ClinGen gnomAD
CA401923947 rs1437243632	1011	S>A		No	ClinGen gnomAD
rs770524637 CA8892589	1013	N>D		No	ClinGen ExAC gnomAD
rs976495862 RCV000481141 CA16620659	1015	S>F		No	ClinGen ClinVar TOPMed dbSNP
rs1218767117 CA401923882	1016	L>S		No	ClinGen TOPMed gnomAD
rs557288488 CA296032414	1017	P>Q		No	ClinGen 1000Genomes TOPMed
rs557288488 CA401923824	1017	P>R		No	ClinGen 1000Genomes TOPMed
CA401923830 rs1480143587	1017	P>T		No	ClinGen TOPMed
rs1429755734 CA401923799	1019	E>G		No	ClinGen TOPMed gnomAD
CA401923783 rs1389007739	1020	N>I		No	ClinGen TOPMed gnomAD
rs781620744 CA296032409	1022	T>A		No	ClinGen TOPMed gnomAD
rs1427237619 CA401923754	1022	T>I		No	ClinGen gnomAD
CA8892579 rs767619168	1023	N>S		No	ClinGen ExAC gnomAD
TCGA novel	1025	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA296032395 rs536129455	1025	P>R		No	ClinGen 1000Genomes TOPMed gnomAD
TCGA novel	1025	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1025102750 CA296032386	1027	N>K		No	ClinGen Ensembl
rs1278387107 CA401923676	1030	N>D		No	ClinGen TOPMed gnomAD
rs1207383118 CA401923670	1030	N>K		No	ClinGen gnomAD
CA401923668 rs1343043036	1031	K>E		No	ClinGen gnomAD
rs1013418207 CA296032357	1031	K>R		No	ClinGen TOPMed gnomAD
TCGA novel	1033	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs190286971 CA296032344	1035	Y>H		No	ClinGen 1000Genomes
rs1225214415 CA401923632	1036	S>R		No	ClinGen TOPMed gnomAD
rs886907295 CA401923629	1037	A>S		No	ClinGen TOPMed gnomAD
CA296032339 rs886907295	1037	A>T		No	ClinGen TOPMed gnomAD
CA401923626 rs1313198353	1037	A>V		No	ClinGen gnomAD
rs1413887321 CA401923618	1039	I>V		No	ClinGen gnomAD
rs752023399 CA8892577	1040	D>N		No	ClinGen ExAC gnomAD
CA296032323 rs752023399	1040	D>Y		No	ClinGen ExAC gnomAD
rs1410043620 CA401923605	1041	P>T		No	ClinGen gnomAD
CA401923595 rs1568029964	1042	T>I		No	ClinGen Ensembl
CA296032314 rs898421844	1043	E>K		No	ClinGen gnomAD
CA401923594 rs898421844	1043	E>Q		No	ClinGen gnomAD
rs1460948706 CA401923577	1045	V>I		No	ClinGen gnomAD
rs1039361041 CA296032304	1046	G>D		No	ClinGen Ensembl
CA401923572 rs1165949787	1046	G>S		No	ClinGen gnomAD
rs1490218848 CA401923564	1047	L>P		No	ClinGen TOPMed
rs1184679155 CA401923561	1048	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs942385292 CA296032301	1048	R>W		No	ClinGen TOPMed gnomAD
CA401923548 rs1483490757	1050	S>A		No	ClinGen TOPMed gnomAD
CA8892575 rs537544544	1051	S>L		No	ClinGen ExAC gnomAD
CA296032290 rs892712364	1054	L>R		No	ClinGen TOPMed gnomAD
CA401923503 rs1232600322	1058	R>M		No	ClinGen gnomAD
rs768402678 CA8892564	1059	N>K		No	ClinGen ExAC gnomAD
CA8892563 rs746114112	1060	N>Y		No	ClinGen ExAC gnomAD
rs1269822864 CA401923462	1062	L>P		No	ClinGen TOPMed gnomAD
CA401923460 rs1209069108	1063	M>V		No	ClinGen TOPMed gnomAD
rs1598443740 CA401923438	1066	I>N		No	ClinGen Ensembl
rs1477445442 CA401923440	1066	I>V		No	ClinGen gnomAD
rs368201706 CA296031560	1067	L>P		No	ClinGen ESP TOPMed
CA401923415 rs1277344242	1070	E>*		No	ClinGen gnomAD
CA8892561 rs375270254	1072	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1440870687 CA401923394	1073	I>T		No	ClinGen TOPMed gnomAD
CA296031549 rs956022243	1073	I>V		No	ClinGen TOPMed gnomAD
rs1392867442 CA401923389	1074	Y>H		No	ClinGen gnomAD
CA8892560 rs751656317	1075	R>C		No	ClinGen ExAC TOPMed gnomAD
rs371576361 CA8892559	1075	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA401923383 rs751656317	1075	R>S		No	ClinGen ExAC TOPMed gnomAD
rs192225494 CA8892558 RCV000494435	1079	Y>C		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA401923344 rs1365014954	1080	Y>C		No	ClinGen TOPMed
CA401923346 rs1313861024	1080	Y>H		No	ClinGen TOPMed gnomAD
rs985475109 CA296031532	1081	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA296031528 rs200150296	1081	R>Q		No	ClinGen TOPMed gnomAD
rs867879504 COSM986536 CA296031521	1083	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA8892557 COSM2883314 rs553574900	1083	R>Q	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs765717332 CA8892556	1085	N>K		No	ClinGen ExAC gnomAD
rs1290297091 CA401923310	1086	L>V		No	ClinGen gnomAD
COSM2883313 rs759920772 CA8892555	1087	T>M	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1249752278 CA401923301	1088	A>T		No	ClinGen gnomAD
CA401923296 rs1188981859	1088	A>V		No	ClinGen TOPMed gnomAD
CA401923290 rs1281865492	1089	P>L		No	ClinGen gnomAD
CA296031484 rs887409551	1091	S>A		No	ClinGen TOPMed
rs538904063 CA8892553	1092	R>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1048726098 CA296031475	1093	T>A		No	ClinGen TOPMed
CA401923270 rs1345243315	1093	T>I		No	ClinGen gnomAD
CA401923257 rs1231374378	1094	I>M		No	ClinGen gnomAD
CA296031471 rs755251396	1095	F>L		No	ClinGen TOPMed gnomAD
CA296031467 rs571487012	1098	I>V		No	ClinGen 1000Genomes
rs1300359852 CA401923180	1099	T>A		No	ClinGen gnomAD
TCGA novel	1100	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs918877202 CA296031441	1102	H>Y		No	ClinGen TOPMed gnomAD
rs956138240 CA296031433	1105	D>N		No	ClinGen Ensembl
TCGA novel	1107	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401923046 rs1459771953	1108	I>S		No	ClinGen TOPMed
CA16620658 rs1032953400 RCV000478773	1109	N>D		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA401923006 rs1436524011	1111	A>T		No	ClinGen TOPMed
rs1300402029 CA401922991	1112	K>E		No	ClinGen TOPMed
rs1416413409 CA401922938	1115	I>V		No	ClinGen TOPMed gnomAD
CA8892551 rs772751770	1118	F>C		No	ClinGen ExAC gnomAD
CA401922849 rs1311581192	1120	Y>H		No	ClinGen TOPMed
rs749020626 CA8892541	1126	T>A		No	ClinGen ExAC
RCV000420166 rs1057524577 CA16608706	1126	T>N		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA8892540 rs781463663	1130	M>I		No	ClinGen ExAC gnomAD
rs1475374260 CA401922701	1130	M>T		No	ClinGen gnomAD
rs771172115 CA8892539	1134	V>I		No	ClinGen ExAC gnomAD
CA401922667 rs1288890705	1135	I>T		No	ClinGen TOPMed
rs1437776023 CA401922642	1138	R>Q		No	ClinGen gnomAD
CA401922627 rs1266200706	1139	M>I		No	ClinGen TOPMed
CA296030675 rs1045751457	1139	M>T		No	ClinGen TOPMed
CA401922636 rs1230525614	1139	M>V		No	ClinGen gnomAD
CA296030664 rs950056984	1140	D>N		No	ClinGen TOPMed
CA8892538 rs747108006	1142	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA296030657 rs930564863	1144	M>I		No	ClinGen TOPMed gnomAD
rs575453211 CA296030659	1144	M>T		No	ClinGen TOPMed gnomAD
CA8892537 rs189783837	1146	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	1146	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1352691435 CA401922519	1147	A>D		No	ClinGen gnomAD
CA401922527 rs1441492033	1147	A>P		No	ClinGen TOPMed gnomAD
CA401922525 rs1441492033	1147	A>T		No	ClinGen TOPMed gnomAD
RCV001668580 RCV000248031 CA8892534 rs35033671	1148	C>F		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8892535 rs375888693	1148	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA296030623 rs987198984	1151	I>F		No	ClinGen TOPMed
rs953018913 CA296030616	1151	I>M		No	ClinGen TOPMed gnomAD
CA8892533 rs377638188	1152	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1473382746 CA401922453	1153	V>I		No	ClinGen gnomAD
CA296030597 rs781392091	1155	Y>C		No	ClinGen gnomAD
CA296030611 rs763627542	1155	Y>H		No	ClinGen Ensembl
rs760341535 CA8892530	1157	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1302644826 CA401922398	1157	R>H		No	ClinGen TOPMed gnomAD
CA401922406 rs760341535	1157	R>S		No	ClinGen ExAC TOPMed gnomAD
CA401922352 rs1224334354	1161	A>D		No	ClinGen TOPMed
CA296030554 rs976903888	1161	A>P		No	ClinGen TOPMed gnomAD
CA296030581 rs976903888	1161	A>T		No	ClinGen TOPMed gnomAD
rs767080401 CA8892529	1162	I>F		No	ClinGen ExAC gnomAD
rs370577821 CA296030543	1162	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs767080401 CA8892528	1162	I>V		No	ClinGen ExAC gnomAD
CA401922335 rs1032376682	1163	A>S		No	ClinGen TOPMed gnomAD
CA296030540 rs1032376682	1163	A>T		No	ClinGen TOPMed gnomAD
CA296030536 rs368619087	1165	I>F		No	ClinGen TOPMed gnomAD
CA401922314 rs368619087	1165	I>V		No	ClinGen TOPMed gnomAD
rs1307889991 CA401922275	1168	K>E		No	ClinGen gnomAD
CA401922257 rs1180259235	1169	Y>D		No	ClinGen TOPMed
TCGA novel	1170	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1251634528 CA401922227	1171	C>G		No	ClinGen TOPMed
rs764018057 CA8892525	1177	I>T		No	ClinGen ExAC gnomAD
rs1276658648 CA401922131	1178	T>I		No	ClinGen gnomAD
CA401922140 rs1598441831	1178	T>P		No	ClinGen Ensembl
CA401922105 rs1455226267	1180	Q>P		No	ClinGen TOPMed gnomAD
rs1393579482 CA401922063	1183	I>V		No	ClinGen gnomAD
rs539732096 CA296030503	1184	C>F		No	ClinGen Ensembl
CA401922051 rs1323664820	1184	C>R		No	ClinGen gnomAD
rs775333233 CA8892523	1185	I>T		No	ClinGen ExAC TOPMed gnomAD
rs762795244 CA8892524	1185	I>V		No	ClinGen ExAC gnomAD
rs1398574760 CA401921985	1189	P>L		No	ClinGen gnomAD
CA401921980 rs1412293033	1190	A>P		No	ClinGen TOPMed
CA401921943 rs1426708002	1193	R>*		No	ClinGen gnomAD
rs757181452 CA401921939	1193	R>L		No	ClinGen ExAC TOPMed gnomAD
rs757181452 CA8892522	1193	R>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1194	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA296030426 rs944241749	1196	P>L		No	ClinGen TOPMed gnomAD
rs1410354399 CA401921811	1200	K>E		No	ClinGen TOPMed
rs751060466 CA8892509	1200	K>R		No	ClinGen ExAC gnomAD
rs1347316552 CA401921788	1201	G>D		No	ClinGen gnomAD
RCV000889375 CA8892508 rs185314707	1203	S>N		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA401921746 rs1229567254	1204	F>S		No	ClinGen TOPMed gnomAD
CA296030398 rs868344793	1205	N>S		No	ClinGen Ensembl
CA401921715 rs1440130299	1206	D>E		No	ClinGen TOPMed
CA401921702 rs1326485089	1207	N>S		No	ClinGen TOPMed
rs1294616256 CA401921689	1208	I>S		No	ClinGen gnomAD
rs1307968548 CA401921694	1208	I>V		No	ClinGen TOPMed gnomAD
CA401921670 rs1380257847	1210	K>Q		No	ClinGen gnomAD
CA401921638 rs1226188273	1211	W>C		No	ClinGen TOPMed
CA296030389 rs78458410	1213	Y>D		No	ClinGen Ensembl
TCGA novel	1217	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs376185795 CA8892507	1218	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA401921525 rs371101691	1220	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000918141 CA8892504 rs371101691	1220	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA401921532 rs1373145384	1220	R>W		No	ClinGen TOPMed gnomAD
rs773550168 CA8892503	1221	P>A		No	ClinGen ExAC TOPMed gnomAD
rs773550168 CA401921520	1221	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1170193016 CA401921507	1222	N>S		No	ClinGen gnomAD
CA401921497 rs1427177473 COSM223923	1223	P>S	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
CA8892502 rs772408470	1224	V>L		No	ClinGen ExAC gnomAD
rs139073574 CA401921453	1227	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs139073574 CA8892501	1227	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754352424 CA296030338	1228	Y>D		No	ClinGen Ensembl
rs1348813175 CA401921316	1229	D>N		No	ClinGen TOPMed
CA401921294 rs1419819572	1231	M>I		No	ClinGen gnomAD
CA401921288 rs1487617535	1232	L>P		No	ClinGen gnomAD
rs1294960614 CA401921272	1235	C>Y		No	ClinGen TOPMed
CA401921254 rs1469740390	1238	L>V		No	ClinGen gnomAD
RCV000952764 CA8892494 rs188320964	1240	R>G		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA296029191 rs923388115	1240	R>Q		No	ClinGen TOPMed
rs188320964 CA8892495	1240	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA401921227 rs1311836296	1242	I>N		No	ClinGen TOPMed
CA296029187 rs975131824	1245	D>N		No	ClinGen TOPMed
CA401921188 rs1212777002	1247	N>S		No	ClinGen gnomAD
CA401921183 rs1332223770	1248	K>E		No	ClinGen gnomAD
TCGA novel	1249	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401921156 rs762874609	1252	R>*		No	ClinGen TOPMed gnomAD
CA401921157 rs762874609	1252	R>G		No	ClinGen TOPMed gnomAD
CA401921155 rs775635798	1252	R>L		No	ClinGen TOPMed gnomAD
rs775635798 CA296029173	1252	R>Q		No	ClinGen TOPMed gnomAD
rs1228228052 CA401921138	1254	M>I		No	ClinGen gnomAD
rs1304189347 CA401921129	1256	G>S		No	ClinGen TOPMed gnomAD
CA401921120 rs1327017004	1257	D>E		No	ClinGen gnomAD
rs751109818 CA8892492	1257	D>G		No	ClinGen ExAC gnomAD
RCV000224682 CA10581290 rs878853021	1258	N>S		No	ClinGen ClinVar dbSNP gnomAD
rs1160575918 CA401921103	1260	E>*		No	ClinGen TOPMed gnomAD
TCGA novel	1260	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA296029144 rs769967188	1262	C>F		No	ClinGen Ensembl
rs1454483706 CA401921082	1263	M>V		No	ClinGen gnomAD
rs7407105 CA401921068	1264	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA401921056 rs1179702583	1266	D>G		No	ClinGen gnomAD
CA8892490 rs562558535	1267	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs979333670 CA296029106	1268	A>S		No	ClinGen TOPMed
rs1017571326 CA296029104	1268	A>V		No	ClinGen Ensembl
rs1008913133 CA296029102	1273	H>N		No	ClinGen TOPMed
CA296029097 rs1020790989	1277	P>S		No	ClinGen TOPMed gnomAD
TCGA novel	1279	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA296029092 rs573830256	1282	C>Y		No	ClinGen 1000Genomes
rs1372102441 CA401920944	1283	R>G		No	ClinGen gnomAD
CA401920140 rs1288015905	1285	Y>F		No	ClinGen TOPMed
CA8892482 rs774663462	1285	Y>H		No	ClinGen ExAC gnomAD
rs1278968795 CA401920126	1287	D>G		No	ClinGen gnomAD
CA401920110 rs9959296	1289	S>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA401920104 rs1343442947	1290	K>R		No	ClinGen gnomAD
CA401920099 rs1245921241	1291	V>M		No	ClinGen Ensembl
CA296025934 rs754312134	1293	I>T		No	ClinGen TOPMed gnomAD
CA296025930 rs963291187	1296	Y>C		No	ClinGen TOPMed
rs890298449 CA296025909	1303	T>I		No	ClinGen TOPMed gnomAD
CA401920011 rs890298449	1303	T>N		No	ClinGen TOPMed gnomAD
rs1179377354 CA401919976	1308	T>I		No	ClinGen TOPMed
CA296025900 rs766103812	1312	R>S		No	ClinGen Ensembl
rs1421495082 CA401919906	1318	M>I		No	ClinGen gnomAD
CA401919909 rs1412706717	1318	M>T		No	ClinGen gnomAD
CA401919893 rs1168290788	1320	Y>F		No	ClinGen TOPMed gnomAD
CA401919895 rs1168290788	1320	Y>S		No	ClinGen TOPMed gnomAD
CA401919888 rs1475001858	1321	L>R		No	ClinGen gnomAD
rs1030047166 CA296025896	1323	A>T		No	ClinGen TOPMed gnomAD
TCGA novel	1328	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA296025891 rs996329497	1331	G>E		No	ClinGen TOPMed
CA401919784 rs1272868097	1337	K>E		No	ClinGen gnomAD
rs1053484878 CA296025884	1337	K>R		No	ClinGen TOPMed gnomAD
rs1408137241 CA401919770	1339	I>F		No	ClinGen TOPMed
CA8892477 rs368614199	1339	I>M		No	ClinGen ESP ExAC gnomAD
rs1196872626 CA401919760	1340	K>N		No	ClinGen gnomAD
rs1307492925 CA401919757	1341	S>G		No	ClinGen TOPMed
rs1273477419 CA401919736	1344	R>C		No	ClinGen TOPMed
CA401919735 rs1356279084	1344	R>H		No	ClinGen TOPMed gnomAD
rs534984825 CA296025876	1347	D>N		No	ClinGen TOPMed gnomAD
CA401919700 rs1283161962	1348	W>C		No	ClinGen TOPMed
rs781504783 CA8892476	1351	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1249145254 CA401919681	1352	Y>H		No	ClinGen TOPMed
rs1329532434 CA401919670	1353	N>S		No	ClinGen TOPMed gnomAD
rs1166779352 CA401919662	1354	V>G		No	ClinGen TOPMed gnomAD
rs1475344851 CA401919630	1357	I>T		No	ClinGen gnomAD
CA401919607 rs1470911268	1359	M>V		No	ClinGen gnomAD
TCGA novel	1369	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401919449 rs1171047735	1369	G>V		No	ClinGen TOPMed
rs1456295904 CA401919444	1370	Y>C		No	ClinGen TOPMed
CA401919438 rs1368465431	1371	I>T		No	ClinGen TOPMed
CA296024276 rs915301070	1371	I>V		No	ClinGen TOPMed
CA296024254 rs947854422	1375	V>M		No	ClinGen TOPMed gnomAD
CA8892462 rs79261438	1376	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1318919805 CA401919402	1377	N>D		No	ClinGen TOPMed gnomAD
CA296024225 rs556397239	1378	S>R		No	ClinGen Ensembl
CA401919377 rs1260351252	1380	W>*		No	ClinGen TOPMed
CA296024224 rs778876785	1380	W>C		No	ClinGen TOPMed gnomAD
CA401919357 rs1443411732	1383	Q>E		No	ClinGen gnomAD
rs1351428186 CA401919339	1385	F>L		No	ClinGen TOPMed gnomAD
CA8892461 rs770373067	1385	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1305608478 CA401919334	1386	S>N		No	ClinGen gnomAD
CA296024221 rs767000950	1386	S>R		No	ClinGen Ensembl
rs1200871036 CA401919321	1388	A>V		No	ClinGen TOPMed
CA401919310 rs1291531229	1389	C>Y		No	ClinGen gnomAD
CA401919287 rs1432481444	1391	V>I		No	ClinGen gnomAD
CA401919275 rs1345353065	1392	K>E		No	ClinGen gnomAD
rs749257673 CA8892459	1392	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1417394536 CA401919264	1393	G>R		No	ClinGen gnomAD
CA401919096 rs1335943478	1397	P>L		No	ClinGen gnomAD
rs1396351234 CA401919209	1397	P>S		No	ClinGen gnomAD
rs1234968130 CA401919048	1400	N>S		No	ClinGen gnomAD
rs879158412 CA296023307	1401	S>T		No	ClinGen Ensembl
rs1346997318 CA401918996	1402	P>L		No	ClinGen gnomAD
rs1442296482 CA401918946	1405	L>I		No	ClinGen TOPMed
rs1362392743 CA401918919	1406	P>H		No	ClinGen gnomAD
CA401918928 rs1364982210	1406	P>S		No	ClinGen TOPMed
TCGA novel	1415	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1416	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401918699 rs1435913631	1417	I>T		No	ClinGen gnomAD
CA401918707 rs1196734329	1417	I>V		No	ClinGen TOPMed
CA401918524 rs1476941172	1426	R>K		No	ClinGen gnomAD
rs891025855 CA296023282	1430	M>I		No	ClinGen TOPMed
CA401918317 rs1158150426	1436	H>P		No	ClinGen TOPMed gnomAD
CA401918321 rs1245221511	1436	H>Y		No	ClinGen TOPMed
rs1482886450 CA401918294	1437	V>A		No	ClinGen gnomAD
CA296023246 rs770850109	1438	V>L		No	ClinGen TOPMed gnomAD
CA296023252 rs770850109	1438	V>M		No	ClinGen TOPMed gnomAD
rs948492916 CA296023242	1441	I>V		No	ClinGen TOPMed gnomAD
rs1167919021 CA401918179	1443	A>T		No	ClinGen TOPMed
CA401918153 rs1277302211	1444	S>F		No	ClinGen gnomAD
CA401918117 rs1404990331	1446	I>V		No	ClinGen Ensembl
CA296023241 rs768547190	1448	A>T		No	ClinGen gnomAD
TCGA novel	1451	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401917340 rs1338242999	1455	F>S		No	ClinGen TOPMed gnomAD
CA8892442 rs369615587	1459	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA296020020 rs373465659	1459	I>V		No	ClinGen ESP TOPMed gnomAD
CA296019999 rs956535313	1461	K>N		No	ClinGen TOPMed gnomAD
CA401917214 rs1373498481	1464	K>N		No	ClinGen TOPMed
rs1433097003 CA401917188	1466	R>K		No	ClinGen TOPMed
CA296019995 rs879628108	1467	I>T		No	ClinGen TOPMed gnomAD
CA296019994 rs1034839389	1471	K>E		No	ClinGen TOPMed
CA8892441 rs375685494	1471	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA296019991 rs969514830	1472	K>Q		No	ClinGen TOPMed
TCGA novel	1472	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1457570294 CA401917066	1474	M>V		No	ClinGen gnomAD
rs1273211700 CA401917047	1475	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	1475	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA296019984 rs759076587	1476	Q>E		No	ClinGen TOPMed gnomAD
rs1023399538 CA296019983	1479	R>*		No	ClinGen TOPMed gnomAD
rs1023399538 CA401916985	1479	R>G		No	ClinGen TOPMed gnomAD
CA296019982 rs903681379	1479	R>P		No	ClinGen TOPMed gnomAD
CA401916981 rs903681379	1479	R>Q		No	ClinGen TOPMed gnomAD
rs1162128160 CA401916837	1481	M>T		No	ClinGen TOPMed
rs970815443 CA296018890	1482	D>G		No	ClinGen TOPMed
TCGA novel	1482	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773994726 CA8892436	1483	R>C		No	ClinGen ExAC TOPMed gnomAD
CA296018889 rs895352583	1483	R>H		No	ClinGen TOPMed gnomAD
CA8892434 rs115526553	1488	Q>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs895172186 CA296018860	1494	G>D		No	ClinGen TOPMed gnomAD
rs536580946 CA296018855	1495	K>E		No	ClinGen 1000Genomes
rs1205336248 CA401916713	1496	E>A		No	ClinGen gnomAD
CA296018844 rs772488085	1497	R>M		No	ClinGen Ensembl
rs1487702518 CA401916694	1497	R>S		No	ClinGen gnomAD
CA296018835 rs1045419854	1501	L>V		No	ClinGen TOPMed gnomAD
CA401916639 rs1298061771	1502	T>P		No	ClinGen gnomAD
rs1238651889 CA401916621	1503	Q>R		No	ClinGen gnomAD
CA296018818 rs762230112	1505	P>Q		No	ClinGen gnomAD
CA296018830 rs377176172 COSM3937683	1505	P>S	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA401916561 rs1312024531	1508	G>S		No	ClinGen TOPMed
CA296018794 rs865990105	1508	G>V		No	ClinGen Ensembl
CA401916512 rs1322560539	1511	M>K		No	ClinGen TOPMed
CA8892432 rs774678044	1511	M>V		No	ClinGen ExAC gnomAD
CA296018780 rs995447565	1512	Q>K		No	ClinGen TOPMed gnomAD
CA401916498 rs1259403560	1512	Q>R		No	ClinGen TOPMed
rs1320598507 CA401916478	1513	K>N		No	ClinGen gnomAD
rs921153225 CA296018773	1514	L>F		No	ClinGen TOPMed
CA401916455 rs1218041778	1515	S>F		No	ClinGen TOPMed
CA8892431 rs745701453	1517	E>K		No	ClinGen ExAC TOPMed gnomAD
CA401916425 rs1484951387	1518	D>N		No	ClinGen TOPMed
CA401916409 rs1362968045	1519	D>N		No	ClinGen gnomAD
rs1024238543 CA296017808	1523	A>E		No	ClinGen Ensembl
rs1272259692 CA401916211	1524	D>E		No	ClinGen TOPMed gnomAD
TCGA novel	1524	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1598421636 CA401916160	1528	A>D		No	ClinGen Ensembl
rs766911756 CA8892424	1528	A>S		No	ClinGen ExAC TOPMed gnomAD
CA401916164 rs766911756	1528	A>T		No	ClinGen ExAC TOPMed gnomAD
rs887322862 CA296017804	1531	K>R		No	ClinGen TOPMed
rs1416772405 CA401916061	1536	W>R		No	ClinGen gnomAD
rs1333480840 CA401916045	1537	R>Q		No	ClinGen gnomAD
CA401916048 rs1341123204	1537	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA401916037 rs1398402049	1538	P>A		No	ClinGen TOPMed gnomAD
CA401916016 rs1598421580	1540	V>F		No	ClinGen Ensembl
CA401916011 rs1598421571	1540	V>G		No	ClinGen Ensembl
CA401916009 rs1171067948	1541	D>H		No	ClinGen gnomAD
rs1198411979 CA401915980 RCV000898463	1542	H>L		No	ClinGen ClinVar TOPMed dbSNP
rs1198411979 CA401915982	1542	H>R		No	ClinGen TOPMed
rs1464794972 CA401915991	1542	H>Y		No	ClinGen gnomAD
CA296017799 rs1004524797	1544	S>Y		No	ClinGen gnomAD
CA8892402 rs537749745	1547	R>S		No	ClinGen 1000Genomes ExAC gnomAD
rs762144766 CA8892401	1548	S>G		No	ClinGen ExAC gnomAD
CA401915557 rs1210651799	1552	Y>C		No	ClinGen gnomAD
CA401915534 rs1313911876	1555	E>G		No	ClinGen gnomAD
CA8892400 rs181523658	1556	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA401915526 rs181523658	1556	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA296014668 rs895174961	1557	D>E		No	ClinGen TOPMed gnomAD
CA401915518 rs1257745293	1558	S>G		No	ClinGen gnomAD
CA401915514 rs1210695937	1558	S>N		No	ClinGen gnomAD
rs762729542 CA8892398	1560	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1480516419 CA401915502	1560	E>K		No	ClinGen TOPMed
CA401915495 rs1276194379	1561	E>K		No	ClinGen TOPMed gnomAD
CA296014663 rs1033753667	1562	E>K		No	ClinGen Ensembl
CA401915476 rs1340683560	1563	E>G		No	ClinGen gnomAD
CA401915418 rs1356802942	1570	D>E		No	ClinGen TOPMed gnomAD
rs1467501158 CA401915424	1570	D>N		No	ClinGen TOPMed
rs1397669413 CA401915422	1570	D>V		No	ClinGen TOPMed gnomAD
rs1223036843 CA401915396	1573	P>L		No	ClinGen TOPMed gnomAD
CA296014652 rs886039822	1575	R>G		No	ClinGen TOPMed gnomAD
CA401915379 rs1461355677	1577	S>P		No	ClinGen TOPMed
CA8892386 rs756250008	1582	V>I		No	ClinGen ExAC gnomAD
rs1064796247 CA16620657 RCV000485161	1585	A>D		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel	1585	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1590	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1567996219 CA401915066	1591	K>E		No	ClinGen Ensembl
rs375695200 CA296010425	1593	A>E		No	ClinGen ESP TOPMed
rs1464223947 CA401915014	1595	R>*		No	ClinGen gnomAD
CA8892385 rs190938950 RCV000923606	1595	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1409221401 CA401914979	1597	R>S		No	ClinGen TOPMed
CA401914971 rs1165500112	1598	H>N		No	ClinGen gnomAD
rs1423177409 CA401914962	1598	H>Q		No	ClinGen gnomAD
rs1165500112 CA401914975	1598	H>Y		No	ClinGen gnomAD
rs1180420166 CA401914946	1599	K>N		No	ClinGen TOPMed gnomAD
CA401914950 rs1254076167	1599	K>R		No	ClinGen gnomAD
CA401914942 rs1458086603	1600	E>K		No	ClinGen gnomAD
rs1196403849 CA401914897	1602	K>N		No	ClinGen gnomAD
rs1390417827 CA401914893	1603	R>G		No	ClinGen TOPMed
TCGA novel	1603	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8892384 rs557512431	1603	R>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA401914871 rs1489232014	1604	S>C		No	ClinGen gnomAD
TCGA novel	1606	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1265532189 CA401914847	1606	R>S		No	ClinGen gnomAD
CA401914811 rs377309185	1609	R>G		No	ClinGen ESP TOPMed gnomAD
rs1243353768 CA401914807	1609	R>Q		No	ClinGen TOPMed gnomAD
rs377309185 CA296010397	1609	R>W		No	ClinGen ESP TOPMed gnomAD
CA401914786 rs1567996098	1611	R>*		No	ClinGen Ensembl
CA8892383 rs2865121	1611	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000243494 CA8892382 rs2865121 RCV001610728	1611	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA401914764 rs939036771	1613	R>G		No	ClinGen TOPMed gnomAD
rs1242907179 CA401914759	1613	R>Q		No	ClinGen TOPMed gnomAD
CA296010370 rs939036771	1613	R>W		No	ClinGen TOPMed gnomAD
rs1203111335 CA401914751	1614	K>R		No	ClinGen TOPMed gnomAD
CA296010357 rs865892128	1615	G>E		No	ClinGen Ensembl
CA401914723 rs1378145069	1616	S>F		No	ClinGen gnomAD
CA296010295 rs927579209	1617	K>N		No	ClinGen Ensembl
CA296010327 rs1010724518	1617	K>R		No	ClinGen TOPMed gnomAD
rs369661357 CA8892381	1618	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8892380 rs763356323	1619	G>C		No	ClinGen ExAC gnomAD
rs1377955985 CA401913668	1620	P>L		No	ClinGen gnomAD
rs936800558 CA296001231	1621	V>A		No	ClinGen TOPMed gnomAD
rs1413774775 CA401913654	1622	E>Q		No	ClinGen TOPMed
rs544739855 CA8892370	1623	W>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA296001222 rs533157733	1626	R>G		No	ClinGen 1000Genomes TOPMed gnomAD
CA401913593 rs1193671201	1626	R>Q		No	ClinGen gnomAD
CA401913598 rs533157733	1626	R>W		No	ClinGen 1000Genomes TOPMed gnomAD
rs981026488 CA401913567	1628	D>A		No	ClinGen TOPMed
CA296001215 rs981026488	1628	D>G		No	ClinGen TOPMed
rs1487673059 CA401913576	1628	D>N		No	ClinGen gnomAD
CA401913560 rs1347454352	1629	E>K		No	ClinGen Ensembl
rs769983242 CA8892368	1630	P>Q		No	ClinGen ExAC gnomAD
rs1436486603 CA401913548	1630	P>T		No	ClinGen TOPMed gnomAD
CA296001179 rs886785903	1631	I>V		No	ClinGen TOPMed
CA8892367 rs745977544	1632	K>E		No	ClinGen ExAC TOPMed gnomAD
rs562589649 CA296001169	1632	K>R		No	ClinGen 1000Genomes
CA401913504 rs1235789616	1633	K>M		No	ClinGen TOPMed
TCGA novel	1633	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1232838479 CA401913487	1634	K>N		No	ClinGen gnomAD
CA296001167 rs561912426	1634	K>R		No	ClinGen gnomAD
rs1400763523 CA401913463	1636	D>E		No	ClinGen gnomAD
RCV002535824 rs114649884 RCV000791014 CA8892365	1636	D>N		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1333424164 CA401913388	1639	D>G		No	ClinGen gnomAD
CA401913378 rs1314803641	1640	N>K		No	ClinGen gnomAD
rs760036064 CA8892356	1641	I>V		No	ClinGen ExAC TOPMed gnomAD
CA295999684 rs541438959	1642	I>M		No	ClinGen 1000Genomes TOPMed
rs977671724 CA295999686	1642	I>S		No	ClinGen Ensembl
rs1402169485 CA401913358	1643	K>N		No	ClinGen gnomAD
rs376703258 CA8892355	1645	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA401913335 rs1464744330	1647	N>D		No	ClinGen gnomAD
CA401913333 rs1416800002	1647	N>T		No	ClinGen gnomAD
CA295999675 rs1002640334	1648	I>N		No	ClinGen TOPMed gnomAD
rs1255972249 CA401913316	1649	L>F		No	ClinGen TOPMed
rs573148752 CA295999671	1649	L>M		No	ClinGen Ensembl
rs140862542 CA295999669	1650	K>E		No	ClinGen 1000Genomes TOPMed
CA401913304 rs1474064259	1650	K>R		No	ClinGen gnomAD
rs1460301759 CA401913287	1651	F>C		No	ClinGen TOPMed gnomAD
rs1187449003 CA401913294	1651	F>I		No	ClinGen gnomAD
CA401913288 rs1460301759	1651	F>S		No	ClinGen TOPMed gnomAD
rs1022662544 CA295999646	1659	T>A		No	ClinGen TOPMed
CA401913176 rs1357127148	1660	V>A		No	ClinGen TOPMed gnomAD
CA401913184 rs1230162848	1660	V>M		No	ClinGen TOPMed gnomAD
rs1464732430 CA401913167	1661	D>A		No	ClinGen TOPMed
TCGA novel	1666	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1162715886 CA401913036	1670	I>S		No	ClinGen TOPMed gnomAD
TCGA novel	1671	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401913005 rs1331587237	1673	E>K		No	ClinGen TOPMed
rs746124170 CA8892350	1674	H>N		No	ClinGen ExAC TOPMed gnomAD
rs534759939 CA295999624	1675	I>V		No	ClinGen 1000Genomes
CA295999622 rs776252501	1676	D>Y		No	ClinGen TOPMed gnomAD
rs897338095 CA295999621	1677	I>M		No	ClinGen TOPMed gnomAD
rs1037493936 CA295999620	1679	T>A		No	ClinGen TOPMed
CA401912915 rs1445599440	1679	T>I		No	ClinGen gnomAD
rs776659360 CA8892349	1682	R>I		No	ClinGen ExAC gnomAD
CA401912870 rs1325114050	1683	I>S		No	ClinGen gnomAD
rs886039823 CA401912848	1685	R>Q		No	ClinGen gnomAD
rs1389364506 CA401912836	1686	C>Y		No	ClinGen gnomAD
rs1487662086 CA401912822	1687	M>T		No	ClinGen TOPMed
rs1035740349 CA295999611	1687	M>V		No	ClinGen Ensembl
CA401912813 rs1163556330	1688	L>M		No	ClinGen TOPMed gnomAD
TCGA novel	1688	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401912792 rs1268199836	1690	R>K		No	ClinGen TOPMed
rs1003368666 CA295999607	1690	R>S		No	ClinGen TOPMed gnomAD
rs1192158071 CA401912781	1691	E>K		No	ClinGen TOPMed
rs1423284405 CA401912747	1693	K>N		No	ClinGen TOPMed
rs1382566381 CA401912736	1694	K>R		No	ClinGen gnomAD
CA295999095 rs758181980	1695	G>D		No	ClinGen Ensembl
rs1276302017 CA401912640	1696	N>S		No	ClinGen TOPMed gnomAD
CA295999092 rs999111701	1696	N>Y		No	ClinGen Ensembl
CA295999087 rs902272565	1697	V>I		No	ClinGen Ensembl
CA401912612 rs1436716624	1698	P>L		No	ClinGen gnomAD
CA8892346 rs778484639 RCV000899019	1700	R>Q		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1043497646 CA295999074	1700	R>W		No	ClinGen TOPMed gnomAD
rs1445518493 CA401912585	1701	E>G		No	ClinGen TOPMed
CA8892345 rs758954462 CA295999062	1705	M>I		No	ClinGen ExAC TOPMed gnomAD
CA295999067 rs920251394	1705	M>T		No	ClinGen TOPMed gnomAD
rs1056352154 CA295999054	1707	Y>C		No	ClinGen gnomAD
rs937627173 CA295999049	1708	Q>H		No	ClinGen Ensembl
CA401912437 rs1159666547	1711	I>V		No	ClinGen TOPMed
CA401912430 rs1567977165	1712	M>V		No	ClinGen Ensembl
rs962022746 CA295999040	1713	N>H		No	ClinGen TOPMed
CA401912417 rs1193174591	1713	N>K		No	ClinGen gnomAD
rs1015758583 CA295999034	1714	L>F		No	ClinGen TOPMed gnomAD
CA401912415 rs1015758583	1714	L>I		No	ClinGen TOPMed gnomAD
CA401912404 rs1197281729	1716	R>G		No	ClinGen gnomAD
TCGA novel	1717	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1489310258 CA401912392	1717	E>V		No	ClinGen gnomAD
rs928852286 CA295999031	1718	S>L		No	ClinGen gnomAD
CA401912359 rs1339480078	1721	D>E		No	ClinGen TOPMed
CA401912351 rs1314955566	1722	T>S		No	ClinGen gnomAD
rs1280428917 CA401912343	1723	I>V		No	ClinGen gnomAD
CA401912311 rs779439901	1725	E>K		No	ClinGen ExAC gnomAD
rs779439901 CA8892343	1725	E>Q		No	ClinGen ExAC gnomAD
TCGA novel	1727	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA295999024 rs1045770114	1727	P>S		No	ClinGen Ensembl
CA401912263 rs1343303187	1728	G>A		No	ClinGen gnomAD
CA8892341 rs753528530	1728	G>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1730	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1346633014 CA401912238	1730	A>V		No	ClinGen Ensembl
CA401912202 rs1299382429	1733	A>V		No	ClinGen gnomAD
CA295999009 rs907867101	1734	Q>H		No	ClinGen Ensembl
rs1239257764 CA401912194	1734	Q>P		No	ClinGen TOPMed
rs186065260 CA8892340 RCV000933933	1735	T>R		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs749911730 CA8892338	1737	H>R		No	ClinGen ExAC TOPMed gnomAD
CA295998992 rs868737453	1738	R>K		No	ClinGen Ensembl
rs1174533688 CA401912122	1739	M>I		No	ClinGen gnomAD
rs1478873393 CA401912082	1742	L>S		No	ClinGen gnomAD
CA401912048 rs1277698207	1744	S>L		No	ClinGen TOPMed
CA8892336 rs761771754	1745	H>R		No	ClinGen ExAC gnomAD
rs1484817694 CA401912041	1745	H>Y		No	ClinGen gnomAD
CA401912013 rs1461910282	1747	S>G		No	ClinGen TOPMed
rs1210635181 CA401912006	1747	S>N		No	ClinGen gnomAD
CA401911986 rs1205829225	1749	S>T		No	ClinGen TOPMed
CA401911972 rs1236369582	1750	S>G		No	ClinGen TOPMed
CA295991693 rs927858666	1751	E>K		No	ClinGen TOPMed
rs1250272856 CA401911143	1753	T>K		No	ClinGen TOPMed gnomAD
CA401911140 rs1250272856	1753	T>M		No	ClinGen TOPMed gnomAD
TCGA novel	1753	T>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401911119 rs1322987126	1754	Q>H		No	ClinGen gnomAD
rs1320975105 CA401911111	1755	C>Y		No	ClinGen TOPMed
CA401911100 rs1247312993	1756	T>A		No	ClinGen gnomAD
CA401911090 rs1382546884	1756	T>I		No	ClinGen gnomAD
CA295991643 rs927995445	1758	L>P		No	ClinGen gnomAD
rs748674381 CA8892325	1759	Y>C		No	ClinGen ExAC gnomAD
CA401911038 rs1450658990	1760	S>*		No	ClinGen TOPMed
CA8892323 rs563775093	1761	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1460570484 CA401911033	1761	R>H		No	ClinGen TOPMed gnomAD
CA8892324 rs563775093	1761	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8892322 rs62622495 RCV000910409	1763	G>A		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA401910997 rs1180205922	1767	T>A		No	ClinGen gnomAD
CA295991616 rs1005579367	1768	I>M		No	ClinGen gnomAD
rs1193696120 CA401910986	1769	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA401910967 rs1265478454	1771	V>A		No	ClinGen gnomAD
CA295991614 rs965445676	1771	V>M		No	ClinGen TOPMed gnomAD
rs1223918970 CA401910961	1772	E>G		No	ClinGen gnomAD
rs1359281832 CA401910957	1773	A>T		No	ClinGen gnomAD
CA401910952 rs1201345782	1773	A>V		No	ClinGen TOPMed
rs1242154149 CA401910951	1774	E>K		No	ClinGen TOPMed
CA401910935 rs1242836450	1776	E>K		No	ClinGen TOPMed gnomAD
CA295991612 rs575008778	1777	E>K		No	ClinGen 1000Genomes
rs1028550102 CA295991584	1778	E>*		No	ClinGen TOPMed gnomAD
rs1389848340 CA401910915 CA401910916	1778	E>D		No	ClinGen TOPMed gnomAD
rs1028550102 CA295991588	1778	E>K		No	ClinGen TOPMed gnomAD
rs143388122 CA8892320	1782	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA295991582 rs998116301	1783	A>V		No	ClinGen TOPMed gnomAD
rs755690199 CA8892319	1784	P>L		No	ClinGen ExAC gnomAD
rs1160369285 CA401910884	1784	P>S		No	ClinGen gnomAD
rs1326896906 CA401910878	1785	E>Q		No	ClinGen TOPMed
rs893867200 CA295991573	1786	P>S		No	ClinGen TOPMed gnomAD
CA401910863 rs1229503575	1787	R>K		No	ClinGen TOPMed
TCGA novel	1787	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1787	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA295991571 rs868681559	1788	E>D		No	ClinGen TOPMed gnomAD
CA401910827 rs1198142931	1792	Y>C		No	ClinGen gnomAD
CA401910830 rs1267459789	1792	Y>H		No	ClinGen gnomAD
rs763212098 CA8892317	1793	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1298666958 CA401910815	1794	A>T		No	ClinGen Ensembl
rs1351887938 CA401910808	1795	T>P		No	ClinGen gnomAD
rs1260453517 CA401910799	1796	G>A		No	ClinGen gnomAD
rs756699702 CA8892316	1798	D>N		No	ClinGen ExAC gnomAD
CA401910782 rs1404474119	1799	V>M		No	ClinGen gnomAD
CA8892314 rs763938033	1801	A>T		No	ClinGen ExAC gnomAD
CA8892313 rs574590227	1802	M>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA295991530 rs574590227	1802	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA295991549 rs948443753	1802	M>V		No	ClinGen TOPMed gnomAD
CA8892312 rs752415814	1804	A>G		No	ClinGen ExAC
CA401910745 rs1156536662	1805	E>A		No	ClinGen TOPMed gnomAD
CA401910748 rs1384004544	1805	E>K		No	ClinGen TOPMed gnomAD
CA295991502 rs947937469	1807	A>P		No	ClinGen TOPMed gnomAD
rs947937469 CA401910731	1807	A>S		No	ClinGen TOPMed gnomAD
rs947937469 CA401910732	1807	A>T		No	ClinGen TOPMed gnomAD
CA295991495 rs553122682	1808	S>N		No	ClinGen 1000Genomes gnomAD
CA295991484 rs916499369	1810	T>I		No	ClinGen TOPMed gnomAD
rs2035546031 RCV001268514	1811	P>missing		No	ClinVar dbSNP
rs1264654255 CA401910704	1811	P>L		No	ClinGen gnomAD
rs1196493905 CA401910702	1812	E>Q		No	ClinGen gnomAD
rs1261475100 CA401910692	1813	E>G		No	ClinGen gnomAD
rs1448022111 CA401910695	1813	E>K		No	ClinGen gnomAD
rs1363203501 CA401910684	1814	E>*		No	ClinGen Ensembl
rs1347562577 CA401910679	1814	E>D		No	ClinGen TOPMed gnomAD
CA401910681 rs1203824284	1814	E>G		No	ClinGen gnomAD
CA401910683 rs1203824284	1814	E>V		No	ClinGen gnomAD
rs1344161017 CA401910672	1816	T>A		No	ClinGen TOPMed
TCGA novel	1822	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1198232080 CA401910628	1822	D>G		No	ClinGen TOPMed
rs1468362829 CA401910622	1823	G>E		No	ClinGen TOPMed gnomAD
CA295991457 rs534950325	1823	G>R		No	ClinGen 1000Genomes gnomAD
TCGA novel	1825	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV001819076 CA8892310 RCV000967478 rs116667912	1827	A>D		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1280121750 CA401910595	1827	A>P		No	ClinGen TOPMed gnomAD
rs1280121750 CA401910596	1827	A>T		No	ClinGen TOPMed gnomAD
rs1325721225 CA401910587	1828	P>L		No	ClinGen gnomAD
CA401910571 rs1276233044	1831	Y>C		No	ClinGen TOPMed
CA401910565 rs1397611590	1832	S>G		No	ClinGen gnomAD
rs1406501430 CA401910561	1832	S>I		No	ClinGen gnomAD
rs776023365 CA295991440	1833	K>N		No	ClinGen Ensembl
rs1335706888 CA401910536	1836	S>N		No	ClinGen gnomAD
CA295991434 rs531739978	1837	F>L		No	ClinGen Ensembl
rs773508178 CA401910526 CA401910525	1837	F>L		No	ClinGen ExAC TOPMed gnomAD
rs371431846 CA8892308	1838	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA295991425 rs770251243	1838	E>K		No	ClinGen TOPMed gnomAD
rs770251243 CA401910524	1838	E>Q		No	ClinGen TOPMed gnomAD
CA401910516 rs1373068423	1839	H>Y		No	ClinGen TOPMed gnomAD
rs761975741 CA8892307	1843	G>C		No	ClinGen ExAC TOPMed gnomAD
rs761975741 CA401910490	1843	G>R		No	ClinGen ExAC TOPMed gnomAD
CA401910483 rs1260084326	1844	S>L		No	ClinGen TOPMed gnomAD
CA401910476 rs1598380315	1845	Q>R		No	ClinGen Ensembl
CA8892303 rs376897491	1847	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA401910453 rs1598380294	1848	S>F		No	ClinGen Ensembl
TCGA novel	1849	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745534124 CA8892301	1849	A>V		No	ClinGen ExAC TOPMed gnomAD
CA401910443 rs1314033667	1850	G>D		No	ClinGen gnomAD
CA401910441 rs1314033667	1850	G>V		No	ClinGen gnomAD
CA8892300 rs569343097	1853	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs373973800 CA401910422	1853	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA295991297 rs569343097	1853	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA401910418 rs1408913407	1854	M>K		No	ClinGen gnomAD
rs1598380242 CA401910401	1856	V>G		No	ClinGen Ensembl
rs1277534753 CA401910387	1858	P>L		No	ClinGen TOPMed gnomAD
rs529388684 CA8892297	1859	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1598380208 CA401910377	1860	D>A		No	ClinGen Ensembl
CA401910366 rs1450292253	1861	S>R		No	ClinGen TOPMed
CA8892295 rs752628953	1862	R>C		No	ClinGen ExAC TOPMed gnomAD
rs562187908 CA8892294	1862	R>H		No	ClinGen 1000Genomes ExAC gnomAD
CA295991233 rs1021263575	1864	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1321323323 CA401910335	1866	L>R		No	ClinGen gnomAD
CA8892292 rs750736757	1867	G>E		No	ClinGen ExAC gnomAD
CA401910313 rs1383122232	1870	I>F		No	ClinGen gnomAD
rs1000058744 CA401910303 CA401910302	1871	L>F		No	ClinGen TOPMed gnomAD
rs1359981382 CA401910299	1872	P>S		No	ClinGen gnomAD
rs1598380133 CA401910284	1875	T>P		No	ClinGen Ensembl
CA8892290 rs762032787 CA401910272	1876	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1378808196 CA401910274	1876	H>R		No	ClinGen gnomAD
TCGA novel	1876	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401910255 rs1046341047	1879	T>K		No	ClinGen TOPMed gnomAD
rs1046341047 CA295991206	1879	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1366813349 CA401910250	1880	A>D		No	ClinGen gnomAD
CA401910252 rs1427120211	1880	A>T		No	ClinGen gnomAD
rs1299401088 CA401910238	1882	E>K		No	ClinGen TOPMed
rs1423168580 CA401910220	1885	L>V		No	ClinGen gnomAD
CA401910189 rs1598379217	1887	K>N		No	ClinGen Ensembl
TCGA novel	1887	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1410565532 CA401910204	1887	K>R		No	ClinGen TOPMed gnomAD
rs914337940 CA295990562	1888	M>I		No	ClinGen TOPMed gnomAD
CA401910187 rs1598379210	1888	M>V		No	ClinGen Ensembl
CA295990556 rs866759573	1890	H>Q		No	ClinGen TOPMed gnomAD
CA401910160 rs16975235	1891	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA295990552 rs899848944	1891	D>G		No	ClinGen Ensembl
rs1303110248 CA401910165	1891	D>N		No	ClinGen TOPMed gnomAD
CA8892281 rs199842060	1892	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8892280 rs199842060 RCV000881597	1892	D>N		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1567967214 CA401910141	1894	L>P		No	ClinGen Ensembl
rs1209014020 CA401910130	1896	E>K		No	ClinGen TOPMed
rs4796901 CA401910116	1898	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA401910082 rs1389593236	1902	V>A		No	ClinGen TOPMed
CA8892277 rs552495360	1902	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA401910058 rs779854352	1906	R>L		No	ClinGen ExAC TOPMed gnomAD
CA8892276 rs779854352	1906	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs990955879 CA295990519	1907	F>L		No	ClinGen TOPMed gnomAD
TCGA novel	1908	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs575625433 CA295990517	1909	L>P		No	ClinGen Ensembl
CA401910043 rs575625433	1909	L>Q		No	ClinGen Ensembl
CA401910024 rs1294459050	1912	Y>C		No	ClinGen TOPMed
rs754874314 CA8892275	1912	Y>H		No	ClinGen ExAC gnomAD
CA295990478 rs755696086	1914	M>T		No	ClinGen Ensembl
CA401910013 rs1280340546	1914	M>V		No	ClinGen TOPMed gnomAD
rs959681351 CA295990468	1915	Y>C		No	ClinGen TOPMed gnomAD
CA401910002 rs959681351	1915	Y>S		No	ClinGen TOPMed gnomAD
rs1186588125 CA401909999	1916	N>H		No	ClinGen gnomAD
rs1280736752 CA401909988	1917	T>I		No	ClinGen gnomAD
CA295990464 rs914383637	1919	V>L		No	ClinGen Ensembl
CA401909972 rs1289963058	1920	A>G		No	ClinGen TOPMed gnomAD
CA295990463 rs1027090051	1920	A>S		No	ClinGen TOPMed gnomAD
rs142690889 CA295990456	1921	R>C		No	ClinGen 1000Genomes gnomAD
CA8892274 rs753662767	1921	R>H		No	ClinGen ExAC TOPMed gnomAD
CA401909967 rs753662767	1921	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1343781404 CA401909961	1922	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	1922	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401909944 rs1470401779	1924	M>I		No	ClinGen gnomAD
CA401909943 rs1428687877	1925	V>M		No	ClinGen TOPMed gnomAD
CA401909914 rs563170217	1928	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1420217288 CA401909910	1929	V>A		No	ClinGen gnomAD
CA295990435 rs1015502830	1929	V>M		No	ClinGen TOPMed gnomAD
TCGA novel	1930	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401909896 rs1185824713	1931	I>N		No	ClinGen gnomAD
CA401909892 rs1474329530	1932	L>F		No	ClinGen TOPMed gnomAD
rs1203912582 CA401909868	1935	M>T		No	ClinGen gnomAD
rs1188359015 CA401909871	1935	M>V		No	ClinGen TOPMed
CA295990405 rs961684910	1936	V>I		No	ClinGen TOPMed
TCGA novel	1939	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401909843 rs1166145562	1939	S>Y		No	ClinGen TOPMed
CA295990399 rs148404137	1941	I>V		No	ClinGen 1000Genomes TOPMed
CA401909778 rs1296980419	1949	I>M		No	ClinGen gnomAD
rs1290091727 CA401909780	1949	I>N		No	ClinGen TOPMed
rs1214445846 CA401909771	1950	F>L		No	ClinGen gnomAD
CA401909767 rs1567966803	1951	L>F		No	ClinGen Ensembl
rs1598378860 CA401909758	1952	W>*		No	ClinGen Ensembl
CA401909751 rs763023285	1953	A>D		No	ClinGen ExAC TOPMed gnomAD
rs1395344298 CA401909753	1953	A>P		No	ClinGen TOPMed
rs763023285 CA8892269	1953	A>V		No	ClinGen ExAC TOPMed gnomAD
rs759946691 CA8892266	1956	S>P		No	ClinGen ExAC gnomAD
CA295990334 rs542293689	1957	V>I		No	ClinGen 1000Genomes TOPMed gnomAD
CA401909720 rs1169699058	1958	P>L		No	ClinGen gnomAD
CA295990329 rs541239173	1960	P>L		No	ClinGen 1000Genomes
CA295990332 rs1020285534	1960	P>S		No	ClinGen TOPMed gnomAD
CA295990316 rs879168452	1962	R>H		No	ClinGen TOPMed gnomAD
CA401909694 rs1480686209	1963	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs771545517 CA8892261	1963	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1965	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8892260 rs747677367	1967	M>I		No	ClinGen ExAC gnomAD
CA401909657 rs1204445128	1968	A>T		No	ClinGen gnomAD
rs1457399899 CA401909652	1968	A>V		No	ClinGen TOPMed
CA401909650 rs1294567976	1969	I>V		No	ClinGen TOPMed gnomAD
rs780925886 CA401909643	1970	V>F		No	ClinGen ExAC TOPMed gnomAD
rs780925886 COSM3764654 CA8892258	1970	V>I	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA295990301 rs775413257	1972	T>P		No	ClinGen Ensembl
CA401909621 rs1313247724	1973	E>V		No	ClinGen gnomAD
rs1598375915 CA401909600	1975	A>T		No	ClinGen Ensembl
rs1325923061 CA401909564	1980	Y>C		No	ClinGen TOPMed gnomAD
rs752802819 CA8892251	1983	Q>P		No	ClinGen ExAC gnomAD
rs1408124992 CA401909533	1984	F>S		No	ClinGen gnomAD
rs947932571 CA295987986	1985	G>V		No	ClinGen Ensembl
rs1208444526 CA401909520	1986	F>C		No	ClinGen TOPMed
rs1256558066 CA401909487	1990	N>T		No	ClinGen TOPMed
rs1567964452 CA401909462	1994	E>K		No	ClinGen Ensembl
CA401909436 rs1290354727	1997	K>R		No	ClinGen gnomAD
CA401909411 rs1189914691	2000	P>L		No	ClinGen TOPMed
CA8892248 rs754296572	2001	Y>C		No	ClinGen ExAC gnomAD
CA401909403 rs1231195508	2002	H>N		No	ClinGen TOPMed
CA401909396 rs1223151744	2002	H>Q		No	ClinGen TOPMed gnomAD
rs1156452496 CA401909399	2002	H>R		No	ClinGen gnomAD
CA8892247 rs766731878	2004	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	2004	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA295987952 rs796123105	2004	P>T		No	ClinGen Ensembl
CA401909381 rs1429315459	2005	N>S		No	ClinGen gnomAD
CA401909376 rs1300302750	2006	I>V		No	ClinGen TOPMed gnomAD
rs375734860 CA295987939	2007	I>T		No	ClinGen ESP gnomAD
rs758499746 CA295987936	2011	K>N		No	ClinGen TOPMed
CA8892246 rs761093768	2013	E>Q		No	ClinGen ExAC gnomAD
rs1207335509 CA401909317	2014	G>A		No	ClinGen TOPMed gnomAD
rs1207335509 CA401909319	2014	G>D		No	ClinGen TOPMed gnomAD
rs1403399763 CA401909312	2015	Y>C		No	ClinGen TOPMed
rs1567964341 CA401909302	2017	L>V		No	ClinGen Ensembl
rs772793550 CA8892245	2018	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA295987915 rs575579489	2021	I>F		No	ClinGen ExAC TOPMed gnomAD
rs575579489 CA8892244	2021	I>L		No	ClinGen ExAC TOPMed gnomAD
rs974216047 CA295987907	2022	Q>H		No	ClinGen TOPMed
TCGA novel	2024	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401909248 rs1325794024	2025	A>G		No	ClinGen gnomAD
rs1309427950 CA401909245	2026	L>V		No	ClinGen TOPMed
CA401909232 rs1378943901	2028	F>L		No	ClinGen TOPMed
rs1222837855 CA401909222	2029	H>P		No	ClinGen gnomAD
rs774029159 CA8892242	2030	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8892241 rs372801656	2030	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA401909205 rs1382608392	2032	I>V		No	ClinGen gnomAD
rs1345478958 CA401909197	2033	L>S		No	ClinGen TOPMed
rs1233037811 CA401909164	2035	C>*		No	ClinGen TOPMed
rs1008689461 CA401909161	2036	H>D		No	ClinGen TOPMed gnomAD
CA401909159 rs1170180818	2036	H>R		No	ClinGen TOPMed gnomAD
rs1008689461 CA295985701	2036	H>Y		No	ClinGen TOPMed gnomAD
CA295985688 rs919885462	2039	W>*		No	ClinGen TOPMed
rs974077046 CA295985685	2040	D>Y		No	ClinGen TOPMed gnomAD
TCGA novel	2041	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745659673 CA295985683	2043	D>Y		No	ClinGen TOPMed gnomAD
rs1446816013 CA401909098	2044	M>I		No	ClinGen TOPMed gnomAD
rs1187130648 CA401909103	2044	M>V		No	ClinGen gnomAD
CA401909094 rs1244018988	2045	T>A		No	ClinGen gnomAD
CA401909060 rs1275152286	2049	M>I		No	ClinGen TOPMed gnomAD
CA249181 RCV000202976 rs864309619	2050	A>T		No	ClinGen ClinVar dbSNP gnomAD
rs1055627271 CA295985654	2051	R>K		No	ClinGen Ensembl
rs1272389222 CA401909047	2052	E>K		No	ClinGen gnomAD
CA401909040 rs1282933482	2053	E>K		No	ClinGen TOPMed
CA8892232 rs543742006	2056	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1028063488 CA295985635	2058	L>P		No	ClinGen TOPMed gnomAD
CA295985639 rs928277645	2058	L>V		No	ClinGen Ensembl
CA295985623 rs940399749	2060	L>V		No	ClinGen Ensembl
rs1196679498 CA401908986	2061	G>D		No	ClinGen TOPMed
CA8892231 rs754406783	2061	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1328879850 CA401908982	2062	H>N		No	ClinGen gnomAD
rs1390298587 CA401908970	2064	R>G		No	ClinGen TOPMed gnomAD
TCGA novel	2064	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	2064	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8892230 RCV000436897 rs79992793 RCV000243095	2064	R>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1390298587 CA401908969	2064	R>W		No	ClinGen TOPMed gnomAD
rs1167225253 CA401908964	2065	R>G		No	ClinGen gnomAD
rs760990089 CA8892229	2065	R>K		No	ClinGen ExAC gnomAD
CA401908951 rs1598371881	2066	D>A		No	ClinGen Ensembl
CA401908953 rs1598371881	2066	D>G		No	ClinGen Ensembl
CA401908942 rs1162919227	2068	S>T		No	ClinGen gnomAD
CA8892228 rs750768276	2069	D>N		No	ClinGen ExAC TOPMed gnomAD
rs998498205 CA295985609	2072	K>R		No	ClinGen TOPMed gnomAD
rs1182710639 CA401908903	2074	I>V		No	ClinGen gnomAD
CA401908893 rs1437287282	2075	N>I		No	ClinGen gnomAD
CA401908894 rs1437287282	2075	N>S		No	ClinGen gnomAD
CA401908892 rs1437287282	2075	N>T		No	ClinGen gnomAD
rs777548466 CA8892226	2078	A>T		No	ClinGen ExAC TOPMed gnomAD
rs563372933 CA295985594	2078	A>V		No	ClinGen 1000Genomes TOPMed gnomAD
CA401908854 rs1302772789	2082	S>T		No	ClinGen TOPMed
rs1366489894 CA401908830	2085	V>A		No	ClinGen TOPMed
CA295985581 rs975638914	2086	T>A		No	ClinGen TOPMed
rs1279764958 CA401908824	2086	T>I		No	ClinGen TOPMed gnomAD
rs1237751731 CA401908822	2087	F>L		No	ClinGen gnomAD
CA401908813 rs1407250908	2088	P>L		No	ClinGen TOPMed gnomAD
CA8892223 rs762550119	2088	P>T		No	ClinGen ExAC TOPMed gnomAD
rs184525296 CA295985559	2094	V>G		No	ClinGen 1000Genomes
rs745694128 CA8892220	2095	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA295985538 rs541120113	2095	R>W		No	ClinGen 1000Genomes TOPMed gnomAD
CA295985528 rs892945487	2096	R>G		No	ClinGen gnomAD
rs1409800587 CA401908764	2096	R>K		No	ClinGen gnomAD
CA8892218 rs377378831	2098	R>C		No	ClinGen ExAC gnomAD
rs1219187758 CA401908749	2098	R>H		No	ClinGen TOPMed gnomAD
CA401908750 rs1219187758	2098	R>P		No	ClinGen TOPMed gnomAD
CA295985516 rs1001366030	2099	S>T		No	ClinGen Ensembl
CA401908742 rs1284576877	2100	G>S		No	ClinGen TOPMed gnomAD
CA401908723 rs1567961125	2102	S>I		No	ClinGen Ensembl
CA401908714 rs1326494295	2104	E>K		No	ClinGen TOPMed gnomAD
RCV000678483 CA401908702 rs1567961103	2105	P>R		No	ClinGen ClinVar Ensembl dbSNP
CA401908687 rs1386019911	2107	Q>H		No	ClinGen TOPMed
CA401908654 rs1346755518	2112	S>Y		No	ClinGen gnomAD
rs1347271554 CA401908635	2115	R>K		No	ClinGen gnomAD
CA401908629 rs1319269373	2116	S>T		No	ClinGen gnomAD
CA295985457 rs765002398	2116	S>Y		No	ClinGen Ensembl
rs757627635 CA8892209	2119	G>D		No	ClinGen ExAC gnomAD
rs1456850674 CA401908609	2119	G>R		No	ClinGen gnomAD
CA401908582 rs1447426305	2121	T>K		No	ClinGen gnomAD
CA8892207 rs763825028	2121	T>P		No	ClinGen ExAC gnomAD
CA401908571 rs762602420	2123	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1482663777 CA401908568	2123	T>I		No	ClinGen TOPMed gnomAD
CA8892206 rs762602420	2123	T>S		No	ClinGen ExAC TOPMed gnomAD
CA401908566 rs1208658674	2124	R>*		No	ClinGen TOPMed gnomAD
CA401908565 rs764616937	2124	R>P		No	ClinGen ExAC gnomAD
rs764616937 CA8892204 COSM2883287	2124	R>Q	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA401908559 rs1275974628	2125	N>S		No	ClinGen gnomAD
CA401908554 rs1395865069	2126	S>G		No	ClinGen TOPMed
RCV001268544 rs2035163592	2128	Q>*		No	ClinVar dbSNP
rs1228178324 CA401908534	2128	Q>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1340447645 CA401908531	2129	K>E		No	ClinGen gnomAD
CA8892203 rs759542766	2130	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1378533251 CA401908515	2131	S>N		No	ClinGen gnomAD
CA401908504 rs1301101654	2132	S>R		No	ClinGen gnomAD
CA8892201 rs770822736	2133	V>A		No	ClinGen ExAC gnomAD
TCGA novel	2136	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774600525 CA8892199	2137	K>Q		No	ClinGen ExAC
CA401908219 rs1290210815	2137	K>T		No	ClinGen gnomAD
rs1327928502 CA401908196	2139	K>R		No	ClinGen TOPMed
CA401908189 rs1427608557	2140	G>D		No	ClinGen gnomAD
rs749471045 CA8892197	2142	R>S		No	ClinGen ExAC gnomAD
rs780202686 CA401908147	2146	M>K		No	ClinGen ExAC TOPMed gnomAD
rs780202686 CA8892196	2146	M>T		No	ClinGen ExAC TOPMed gnomAD
rs756090264 CA8892195	2147	E>K		No	ClinGen ExAC gnomAD
CA401908129 CA8892194 rs746389777	2148	K>N		No	ClinGen ExAC gnomAD
rs373485193 CA8892193	2149	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs373485193 CA8892192	2149	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA8892191 rs751951617 COSM1251868	2152	H>N	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA8892190 rs369467955	2152	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs751951617 CA401908108	2152	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA295984673 rs200633417	2154	I>M		No	ClinGen gnomAD
rs1294315597 CA401908088	2155	K>E		No	ClinGen gnomAD
rs917319595 CA295984663	2156	A>S		No	ClinGen gnomAD
rs1321405433 CA401908072	2157	K>R		No	ClinGen gnomAD
rs758158946 CA8892189	2158	A>S		No	ClinGen ExAC gnomAD
CA8892188 rs752244424	2159	F>S		No	ClinGen ExAC gnomAD
rs371877070 CA295984632	2161	I>K		No	ClinGen ESP TOPMed gnomAD
CA295984627 rs983328850	2162	K>N		No	ClinGen Ensembl
rs1307377359 CA401908033	2163	K>R		No	ClinGen gnomAD
CA8892165 rs376551561	2164	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA8892163 rs750300884	2166	E>D		No	ClinGen ExAC gnomAD
CA401919284 rs1432130334	2166	E>K		No	ClinGen gnomAD
CA8892162 rs767304315	2167	I>F		No	ClinGen ExAC TOPMed gnomAD
rs761508894 CA8892161	2167	I>S		No	ClinGen ExAC gnomAD
CA8892159 rs769885127	2168	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs776606204 CA8892157	2170	P>S		No	ClinGen ExAC gnomAD
CA8892156 rs771088826	2171	I>L		No	ClinGen ExAC TOPMed gnomAD
CA8892155 rs747533890	2173	Q>*		No	ClinGen ExAC gnomAD
rs1232389720 CA401919187	2173	Q>L		No	ClinGen TOPMed gnomAD
rs1232389720 CA401919189	2173	Q>P		No	ClinGen TOPMed gnomAD
CA401919177 COSM275068 rs778361916	2174	F>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA8892153 rs772634770	2179	I>N		No	ClinGen ExAC gnomAD
rs549548007 CA8892151	2180	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA295993029 rs1000702662	2180	H>Y		No	ClinGen Ensembl
rs192092641 CA8892150	2181	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA401919128 rs1402247213	2182	E>Q		No	ClinGen gnomAD
rs755552544 CA8892147	2185	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8892144 rs761717273	2186	V>A		No	ClinGen ExAC TOPMed gnomAD
CA401919047 rs761717273	2186	V>E		No	ClinGen ExAC TOPMed gnomAD
rs551918181 CA401919060	2186	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8892145 rs551918181	2186	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8892143 rs145767108	2187	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA295992944 rs777643703	2189	V>L		No	ClinGen gnomAD
CA401919005 rs777643703	2189	V>M		No	ClinGen gnomAD
CA401918973 rs1199816242	2190	Y>F		No	ClinGen gnomAD
rs1056190716 CA295992943	2191	V>I		No	ClinGen TOPMed
rs776938221 CA8892140	2192	L>F		No	ClinGen ExAC gnomAD
rs1252996509 CA401918936	2192	L>P		No	ClinGen gnomAD
CA8892138 rs760836585	2193	M>I		No	ClinGen ExAC gnomAD
CA8892139 rs368584671	2193	M>T		No	ClinGen ESP ExAC gnomAD
rs919386841 CA295992938	2193	M>V		No	ClinGen Ensembl
TCGA novel	2196	A>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1340567681 CA401918845	2197	D>G		No	ClinGen gnomAD
COSM986531 rs1471557973 CA401918832	2198	T>N	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs371136741 CA8892135	2199	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs772423873 CA8892136	2199	V>M		No	ClinGen ExAC gnomAD
TCGA novel	2201	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA295992873 rs199829409	2202	I>T		No	ClinGen Ensembl
CA401918752 rs1171008953	2202	I>V		No	ClinGen gnomAD
rs1389899571 CA401918715	2203	I>M		No	ClinGen gnomAD
rs1166951506 CA401918700	2204	I>T		No	ClinGen gnomAD
CA401918689 rs1567957908	2205	V>I		No	ClinGen Ensembl
rs200500089 COSM1387779 CA295992853	2207	G>S	large_intestine Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
TCGA novel	2214	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1598367256 RCV000996644 CA401918367	2215	S>*		No	ClinGen ClinVar Ensembl dbSNP
rs147841999 CA8892097	2215	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs144490141 CA295992702	2216	A>E		No	ClinGen ESP
rs1372236140 CA401918359	2216	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	2217	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1305253373 CA401918319	2218	A>T		No	ClinGen TOPMed
CA295992700 rs34408839	2221	T>P		No	ClinGen Ensembl
CA8892095 rs745536039	2225	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1268364804 CA401918131	2228	Q>K		No	ClinGen gnomAD
CA401918040 rs1266802196	2232	P>L		No	ClinGen gnomAD
rs1326430479 CA401918049	2232	P>S		No	ClinGen gnomAD
CA295992638 rs1056621916	2235	V>A		No	ClinGen Ensembl
rs777624157 CA8892090	2235	V>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1316904281 CA401917961	2237	V>L		No	ClinGen gnomAD
CA8892088 rs748046636	2239	I>V		No	ClinGen ExAC gnomAD
rs778860783 CA8892087	2243	T>N		No	ClinGen ExAC gnomAD
TCGA novel	2244	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA295992604 rs890017520	2244	M>V		No	ClinGen TOPMed
rs768440877 CA8892086	2245	V>L		No	ClinGen ExAC TOPMed gnomAD
CA8892085 rs768440877	2245	V>M		No	ClinGen ExAC TOPMed gnomAD
rs781461197 RCV000578809 CA401917794	2248	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA401917763 rs1424355353	2250	L>P		No	ClinGen gnomAD
rs1404066413 CA401917770	2250	L>V		No	ClinGen TOPMed
rs1022329934 CA295992564	2252	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA401917726 rs1451060561	2252	L>P		No	ClinGen gnomAD
CA401917686 rs1391873016	2255	T>A		No	ClinGen TOPMed gnomAD
rs1324357923 CA401917675	2256	V>L		No	ClinGen TOPMed
CA8892081 rs764040267	2257	L>R		No	ClinGen ExAC gnomAD
rs1226000630 CA401917650	2258	G>A		No	ClinGen TOPMed
rs753146531 CA401917639	2259	K>N		No	ClinGen ExAC gnomAD
rs942158761 CA401917637	2260	V>I		No	ClinGen TOPMed
rs942158761 CA295992527	2260	V>L		No	ClinGen TOPMed
CA401917631 rs1210193369	2261	I>F		No	ClinGen gnomAD
TCGA novel	2262	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765592065 CA8892078	2266	L>F		No	ClinGen ExAC gnomAD
CA401917591 rs1344703180	2267	V>M		No	ClinGen gnomAD
CA8892076 rs776208887	2268	F>L		No	ClinGen ExAC gnomAD
rs760201421 CA8892074	2269	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs371763741 CA8892073	2270	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs938737753 CA295992493	2273	W>*		No	ClinGen TOPMed
CA401917543 rs1246367804	2274	M>L		No	ClinGen TOPMed
rs144506740 CA8892072	2276	F>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1390512923 CA401917497	2280	G>D		No	ClinGen gnomAD
rs768629308 CA8892069	2280	G>S		No	ClinGen ExAC TOPMed gnomAD
CA295992467 rs956824444	2281	V>A		No	ClinGen Ensembl
rs1447221606 CA401917486	2282	T>I		No	ClinGen gnomAD
CA401916723 rs1267477196	2285	K>T		No	ClinGen gnomAD
CA295988972 rs922583652	2286	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs748207469 CA8892045	2287	S>I		No	ClinGen ExAC gnomAD
CA401916686 rs1321201971	2288	Q>E		No	ClinGen gnomAD
rs1271286760 CA401916661	2289	N>I		No	ClinGen gnomAD
rs779441390 CA401916655	2290	L>M		No	ClinGen ExAC gnomAD
CA8892044 rs779441390	2290	L>V		No	ClinGen ExAC gnomAD
rs555194703 CA295988931	2291	V>I		No	ClinGen gnomAD
rs1407791459 CA401916631	2292	A>T		No	ClinGen gnomAD
rs1442868695 CA401916612	2293	Q>R		No	ClinGen TOPMed
rs766767857 CA8892041	2300	C>R		No	ClinGen ExAC gnomAD
CA8892040 rs145948361	2301	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1160833301 CA401916456	2304	G>R		No	ClinGen TOPMed gnomAD
rs143058111 CA8892035	2305	L>F		No	ClinGen ESP ExAC gnomAD
rs774029080 CA8892037	2305	L>M		No	ClinGen ExAC gnomAD
CA401916429 rs1417732202	2306	S>P		No	ClinGen gnomAD
CA8892034 rs559917303	2311	R>H		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	2313	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8892033 rs775225048	2314	Y>*		No	ClinGen ExAC gnomAD
rs1488310616 CA401916329	2316	T>A		No	ClinGen gnomAD
CA8892031 rs138499457	2316	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8892032 rs138499457 RCV000894288	2316	T>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM1630494 rs1329879893 CA401916325	2317	R>*	liver Variant assessed as Somatic; impact. central_nervous_system [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1267461833 CA401916322	2317	R>L		No	ClinGen gnomAD
CA8892028 rs748334013	2318	V>A		No	ClinGen ExAC gnomAD
CA401916318 rs748334013	2318	V>G		No	ClinGen ExAC gnomAD
TCGA novel	2320	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1313757582 CA401916305	2321	N>D		No	ClinGen gnomAD
CA401916282 rs1301794320	2324	T>A		No	ClinGen TOPMed gnomAD
rs1327467847 CA401916258	2326	S>N		No	ClinGen TOPMed
rs756549202 COSM239795 CA8892023	2330	V>I	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA8892024 rs756549202	2330	V>L		No	ClinGen ExAC TOPMed gnomAD
rs767953271 CA8892021	2334	L>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	2337	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775464447 CA8891988 COSM1680237	2339	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs202161305 CA8891985	2341	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs202161305 CA8891984	2341	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs758006100 CA8891981	2347	L>M		No	ClinGen ExAC gnomAD
CA401915858 rs1313207112	2352	D>G		No	ClinGen TOPMed
CA8891979 rs778303797	2352	D>H		No	ClinGen ExAC gnomAD
CA295987631 rs939792657	2353	W>*		No	ClinGen Ensembl
rs4419118 CA8891977	2355	W>*		No	ClinGen ExAC gnomAD
rs4419118 CA295987602	2355	W>C		No	ClinGen ExAC gnomAD
TCGA novel	2355	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1474217845 CA401915828	2357	D>N		No	ClinGen gnomAD
rs1182680721 CA401915813	2359	T>A		No	ClinGen gnomAD
CA401915782 rs1211196556	2364	S>G		No	ClinGen gnomAD
rs985379792 CA295987561	2365	W>*		No	ClinGen Ensembl
CA628191784 rs1356454927	2365	W>LLYPNNS*		No	ClinGen gnomAD
CA401915728 rs1354162021	2371	I>V		No	ClinGen TOPMed gnomAD
CA8891971 rs767305160	2372	Y>C		No	ClinGen ExAC gnomAD
rs1003370261 CA295987546	2374	H>Y		No	ClinGen TOPMed
rs1327103059 CA401915697	2375	I>M		No	ClinGen gnomAD
rs775723608 CA8891969	2375	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	2376	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1351395915 CA401915683	2377	I>T		No	ClinGen TOPMed
rs1164386175 CA401915671	2379	K>R		No	ClinGen gnomAD
TCGA novel	2381	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747466497 CA8891964	2382	R>Q		No	ClinGen ExAC gnomAD
CA8891963 rs773476471	2383	E>D		No	ClinGen ExAC gnomAD
rs772410674 CA8891962	2384	S>L		No	ClinGen ExAC TOPMed gnomAD
rs986589293 CA295983366	2387	R>I		No	ClinGen TOPMed gnomAD
rs977763206 CA295983362	2388	Y>H		No	ClinGen TOPMed
rs1598349225 CA401915324	2389	P>R		No	ClinGen Ensembl
rs1465863747 CA401915305	2392	R>Q		No	ClinGen TOPMed gnomAD
rs1260739372 CA401915306	2392	R>W		No	ClinGen gnomAD
CA401915256 rs1207534850	2399	V>M		No	ClinGen gnomAD
rs536483737 CA295983359	2403	G>C		No	ClinGen 1000Genomes
rs967603389 CA295983354	2407	M>I		No	ClinGen TOPMed gnomAD
CA401915136 rs528555261	2410	V>I		No	ClinGen gnomAD
CA295983348 rs528555261	2410	V>L		No	ClinGen gnomAD
rs1300539688 CA401915073	2415	I>V		No	ClinGen TOPMed
rs1346091194 CA401915043	2417	W>*		No	ClinGen gnomAD
CA295983344 rs1021144143	2430	A>V		No	ClinGen gnomAD
CA401914857 rs1367605340	2431	G>A		No	ClinGen gnomAD
CA401914861 rs1232295269	2431	G>R		No	ClinGen TOPMed gnomAD
CA401914843 rs1598349139	2432	V>G		No	ClinGen Ensembl
rs1321379940 CA401914852	2432	V>I		No	ClinGen gnomAD
CA401914820 rs1598349133	2434	N>T		No	ClinGen Ensembl
rs958875770 CA295983340	2439	V>I		No	ClinGen TOPMed gnomAD
CA8891948 rs776870765	2441	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1374550293 CA401914692	2444	T>I		No	ClinGen TOPMed gnomAD
CA295983334 rs1034953351	2445	L>V		No	ClinGen TOPMed
CA401914667 rs1598349078	2448	Y>D		No	ClinGen Ensembl
rs1407743782 CA401914639	2450	P>T		No	ClinGen gnomAD
rs755279828 CA8891924	2451	I>V		No	ClinGen ExAC gnomAD
rs1025652690 CA295983120 CA295983117	2454	M>I		No	ClinGen TOPMed
rs754042604 CA8891923	2454	M>V		No	ClinGen ExAC gnomAD
CA401914599 rs1234190052	2456	A>T		No	ClinGen TOPMed
rs995981769 CA295983105	2456	A>V		No	ClinGen Ensembl
CA628485912 rs1257397826	2457	Q>S		No	ClinGen gnomAD
CA401914563 rs1484214836	2460	Q>H		No	ClinGen gnomAD
CA401914562 rs760808592	2461	L>M		No	ClinGen ExAC TOPMed gnomAD
VAR_033925 rs3748428 RCV000252030 RCV001651247 CA8891920	2463	V>I		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1598348519 CA401914541	2464	M>V		No	ClinGen Ensembl
CA295983093 rs1006817816	2465	D>A		No	ClinGen Ensembl
CA8891919 rs768049811	2466	Q>H		No	ClinGen ExAC gnomAD
rs762179788 CA401914518	2467	Q>*		No	ClinGen ExAC gnomAD
rs762179788 CA8891918	2467	Q>K		No	ClinGen ExAC gnomAD
CA401914510 rs1250270671	2468	S>G		No	ClinGen TOPMed
CA8891916 rs768944507	2470	N>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	2472	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA295983086 rs1053626788	2472	F>L		No	ClinGen TOPMed
CA401914479 rs1555623228 RCV000592648	2472	F>V		No	ClinGen ClinVar Ensembl dbSNP
rs143299649 CA8891915	2473	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs945666504 CA295983084	2473	I>T		No	ClinGen Ensembl
rs749859138 CA8891914	2475	A>G		No	ClinGen ExAC TOPMed gnomAD
rs749859138 CA8891913	2475	A>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	2477	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8891912 rs745351795	2478	R>G		No	ClinGen ExAC gnomAD
CA401914428 rs1395572323	2480	T>A		No	ClinGen TOPMed
rs781039883 CA8891911	2480	T>S		No	ClinGen ExAC gnomAD
CA8891895 rs769464245	2481	G>D		No	ClinGen ExAC gnomAD
CA8891896 rs544682077	2481	G>S		No	ClinGen 1000Genomes ExAC gnomAD
CA401914404 rs370404024	2483	M>L		No	ClinGen ESP ExAC gnomAD
rs776232731 CA8891893	2483	M>T		No	ClinGen ExAC gnomAD
rs370404024 CA8891894	2483	M>V		No	ClinGen ESP ExAC gnomAD
rs1364871061 CA401914349 RCV000908676	2490	E>G		No	ClinGen ClinVar dbSNP gnomAD
rs1209134361 CA401914326	2493	D>A		No	ClinGen TOPMed
rs533189057 CA401914321	2494	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8891892 rs533189057	2494	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199956726 CA8891891	2495	T>A		No	ClinGen ExAC TOPMed gnomAD
CA401914299 rs1190688171	2497	A>V		No	ClinGen TOPMed
rs1468095353 CA401914296	2498	E>*		No	ClinGen gnomAD
rs1251155423 CA628485882	2498	E>D		No	ClinGen gnomAD
rs1422663584 CA401914288	2499	L>P		No	ClinGen TOPMed
CA8891890 rs777837370	2501	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA401914265 rs1486177018	2502	N>K		No	ClinGen gnomAD
CA401914253 rs1260053518	2504	N>T		No	ClinGen gnomAD
CA401914256 rs1478269864	2504	N>Y		No	ClinGen TOPMed
CA401914229 rs1457433003	2507	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA401914237 rs1415746748	2507	W>R		No	ClinGen TOPMed
CA401914227 rs1294214910	2508	T>A		No	ClinGen TOPMed
CA401914221 rs1313701671	2509	I>V		No	ClinGen gnomAD
CA8891888 rs747938496	2511	P>S		No	ClinGen ExAC gnomAD
rs778526356 CA8891887	2512	P>S		No	ClinGen ExAC gnomAD
rs1299255998 CA401914190	2513	S>R		No	ClinGen gnomAD
CA401914186 rs1382264716	2514	K>R		No	ClinGen gnomAD
rs993245140 CA295982484	2515	Q>E		No	ClinGen Ensembl
CA401914178 rs1386371498	2515	Q>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA401914169 rs1288745995	2516	K>I		No	ClinGen gnomAD
rs1598347043 CA401914160	2517	M>I		No	ClinGen Ensembl
CA401914150 rs1452121505	2519	H>N		No	ClinGen gnomAD
rs1174509977 CA401914142	2520	E>K		No	ClinGen gnomAD
rs1174509977 CA401914141	2520	E>Q		No	ClinGen gnomAD
CA295982480 rs761857461	2522	L>R		No	ClinGen TOPMed gnomAD
CA8891882 rs544519392	2525	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA401914103 rs1332265031	2526	S>G		No	ClinGen TOPMed
rs926441897 CA295982475	2526	S>N		No	ClinGen TOPMed gnomAD
rs764552279 CA8891880	2527	S>I		No	ClinGen ExAC gnomAD
rs1038530454 CA295982468	2527	S>R		No	ClinGen Ensembl
CA401914084 rs1209878068	2528	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1265530787 CA401914089	2528	F>L		No	ClinGen TOPMed
CA8891879 rs758810248	2529	S>P		No	ClinGen ExAC gnomAD
CA8891878 rs753081141	2530	V>I		No	ClinGen ExAC gnomAD
rs1325309661 CA401914069	2531	V>A		No	ClinGen gnomAD
CA401914071 rs188308955	2531	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8891877 rs188308955	2531	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1451012640	2533	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401914045 rs1195611790	2534	W>C		No	ClinGen TOPMed
rs1463055042 CA401913995	2539	N>K		No	ClinGen gnomAD
TCGA novel	2545	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs371283340 CA8891852	2546	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs145385589 CA295981344	2548	I>T		No	ClinGen ESP gnomAD
CA401913932 rs1347729976	2549	A>V		No	ClinGen gnomAD
rs540106670 CA8891849	2550	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA295981337 rs188342968	2550	T>I		No	ClinGen 1000Genomes gnomAD
CA401913920 rs774144661	2551	D>E		No	ClinGen ExAC TOPMed gnomAD
rs768563061 CA8891847	2553	L>I		No	ClinGen ExAC gnomAD
rs1274360685 CA401913900	2554	S>F		No	ClinGen gnomAD
CA401913905 rs1334879715	2554	S>T		No	ClinGen gnomAD
TCGA novel	2559	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8891846 rs749006884	2561	T>S		No	ClinGen ExAC
rs576824464 CA295981328	2562	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA401913850 rs1333324116	2562	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs377258234 CA8891845	2564	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1285234924 CA401913828	2565	I>S		No	ClinGen TOPMed
rs771164848 CA8891844	2565	I>V		No	ClinGen ExAC TOPMed gnomAD
rs200520861 CA401913825	2566	A>S		No	ClinGen ExAC TOPMed gnomAD
CA8891842 rs200520861	2566	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1395222628 CA401913821	2567	K>*		No	ClinGen gnomAD
rs373272627 CA8891841	2569	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs575144358 CA295981296	2570	A>S		No	ClinGen 1000Genomes
CA8891840 rs748744490	2571	G>D		No	ClinGen ExAC gnomAD
CA8891838 rs755407261	2573	S>N		No	ClinGen ExAC TOPMed gnomAD
CA401913775 rs1291579281	2573	S>R		No	ClinGen TOPMed
rs370712216 CA8891837	2574	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs147641839 CA8891835	2575	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA8891836 rs142229219	2575	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1037135676 CA295981284	2576	S>I		No	ClinGen TOPMed gnomAD
CA295981281 rs1021952141	2577	S>P		No	ClinGen TOPMed gnomAD
TCGA novel	2577	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401913744 rs1567937973	2578	K>N		No	ClinGen Ensembl
rs750039791 CA8891834	2578	K>R		No	ClinGen ExAC gnomAD
CA401913736 rs1185436811	2580	P>A		No	ClinGen TOPMed
rs1350357231 CA401913728	2581	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs761403931 CA401913730	2581	V>L		No	ClinGen ExAC TOPMed gnomAD
CA8891832 rs761403931	2581	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1440403879 CA401913709	2582	T>I		No	ClinGen TOPMed
CA8891809 rs762802475	2583	I>T		No	ClinGen ExAC gnomAD
CA401913699 rs1185420344	2584	E>A		No	ClinGen gnomAD
CA401913702 rs1186196044	2584	E>K		No	ClinGen TOPMed
CA8891808 rs752572148	2586	I>T		No	ClinGen ExAC TOPMed gnomAD
CA401913659 rs1281726615	2587	Y>D		No	ClinGen gnomAD
rs1445227105 CA401913653	2587	Y>F		No	ClinGen TOPMed gnomAD
CA8891805 rs558652174	2591	V>L		No	ClinGen 1000Genomes ExAC gnomAD
CA8891804 rs558652174	2591	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs955690748 CA295980011	2594	P>L		No	ClinGen gnomAD
CA8891803 rs139155435	2594	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs780803293 CA295980008	2595	S>N		No	ClinGen Ensembl
rs774301972 CA8891802	2595	S>R		No	ClinGen ExAC gnomAD
rs768728304 CA8891801	2596	D>E		No	ClinGen ExAC gnomAD
CA401913515 rs1415207758	2597	S>C		No	ClinGen gnomAD
CA8891800 rs749822379	2598	N>I		No	ClinGen ExAC TOPMed gnomAD
CA401913499 rs1598340851	2598	N>K		No	ClinGen Ensembl
rs769217811 CA295979997	2599	S>L		No	ClinGen Ensembl
CA295979985 rs868812187	2601	P>L		No	ClinGen Ensembl
TCGA novel	2601	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8891798 rs770324484	2601	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
RCV000896553 CA8891796 rs781648426	2602	I>V		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA8891795 rs150780541	2603	K>N		No	ClinGen ESP ExAC
CA401913432 rs1407692204	2604	Q>E		No	ClinGen gnomAD
CA401913421 rs1330495408	2604	Q>H		No	ClinGen TOPMed
CA295979971 rs904062977	2605	L>H		No	ClinGen Ensembl
rs1469965388 CA401913419	2605	L>I		No	ClinGen gnomAD
TCGA novel	2605	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8891794 rs746606142	2606	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1023772322 CA295979969	2606	L>S		No	ClinGen Ensembl
TCGA novel	2606	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs142103035 CA8891793	2607	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1409021419 CA401913308	2608	E>A		No	ClinGen gnomAD
rs1413639583 CA401913404	2608	E>Q		No	ClinGen gnomAD
CA401913283 rs776189321	2609	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs961862080 CA295979061	2610	N>D		No	ClinGen TOPMed
rs1437921891 CA401913251	2612	M>L		No	ClinGen TOPMed gnomAD
rs1255029003 CA401913241	2612	M>R		No	ClinGen gnomAD
rs1437921891 CA401913247	2612	M>V		No	ClinGen TOPMed gnomAD
CA8891780 rs770447224	2613	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs952699419 CA295979053	2614	I>F		No	ClinGen TOPMed
CA8891778 rs376455849	2616	I>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1426822203 CA401913150	2619	S>P		No	ClinGen TOPMed
TCGA novel	2621	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401913102 rs1598338385	2622	N>S		No	ClinGen Ensembl
CA8891776 rs554311111	2624	T>I		No	ClinGen ExAC gnomAD
rs1305868876 CA401913045	2626	Y>F		No	ClinGen gnomAD
rs1193032704 CA401913016	2628	S>N		No	ClinGen TOPMed
rs1598338338 CA401912949	2632	V>G		No	ClinGen Ensembl
rs777473414 CA8891775	2632	V>I		No	ClinGen ExAC TOPMed gnomAD
rs777473414 CA401912957	2632	V>L		No	ClinGen ExAC TOPMed gnomAD
CA401912929 rs1467478484	2634	N>S		No	ClinGen TOPMed
rs1394420077 CA401912919	2635	L>M		No	ClinGen gnomAD
CA401912871 rs1346102951	2638	N>K		No	ClinGen gnomAD
CA401912853 rs754918082	2640	I>L		No	ClinGen ExAC TOPMed gnomAD
rs754918082 CA8891771	2640	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	2641	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753719142 CA8891770	2641	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs755935886 CA8891768	2642	N>S		No	ClinGen ExAC gnomAD
rs142364104 CA8891767	2643	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8891765 rs367943583	2643	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs367943583 CA8891766	2643	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA8891763 rs765339568	2645	S>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	2645	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8891762 rs760133499	2646	Q>R		No	ClinGen ExAC gnomAD
CA8891761 rs777181903	2647	A>T		No	ClinGen ExAC gnomAD
rs761065211 CA8891759	2649	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs771775181 CA8891757	2651	V>E		No	ClinGen ExAC gnomAD
CA8891758 rs772787185	2651	V>M		No	ClinGen ExAC TOPMed gnomAD
rs376761944 CA8891756	2654	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1598338190 CA401912649	2657	V>L		No	ClinGen Ensembl
rs778409627 CA8891755	2660	P>A		No	ClinGen ExAC gnomAD
rs1598338160 CA401912586	2661	S>G		No	ClinGen Ensembl
rs1377525433 CA401912581	2661	S>N		No	ClinGen gnomAD
TCGA novel	2662	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401912554 rs1174455596	2663	G>R		No	ClinGen gnomAD
CA401912535 rs1376052116	2664	F>L		No	ClinGen gnomAD
TCGA novel	2665	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA295978989 rs367571011	2666	A>S		No	ClinGen ESP
CA401912484 rs1598338124	2667	G>A		No	ClinGen Ensembl
rs1011654427 CA295978984	2668	Y>C		No	ClinGen TOPMed gnomAD
TCGA novel	2669	G>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401912455 rs1186461060	2669	G>D		No	ClinGen TOPMed
rs1008206665 CA401912360	2670	I>F		No	ClinGen TOPMed gnomAD
CA295978604 rs1008206665	2670	I>V		No	ClinGen TOPMed gnomAD
CA401912339 rs1200695617	2671	M>I		No	ClinGen TOPMed
CA401912346 rs1257984763	2671	M>L		No	ClinGen gnomAD
rs944580245 CA295978602	2671	M>T		No	ClinGen Ensembl
CA8891741 rs761036701	2674	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs1210578239 CA401912270	2677	V>F		No	ClinGen TOPMed
CA401912247 rs1244487595	2679	L>V		No	ClinGen gnomAD
CA295978590 rs977700919	2681	I>M		No	ClinGen Ensembl
rs2033787448 RCV001728097	2682	G>V		No	ClinVar dbSNP
CA295978587 rs966337480	2684	F>L		No	ClinGen Ensembl
rs1338945335 CA401912169	2685	V>F		No	ClinGen gnomAD
rs773654491 CA8891740	2687	E>G		No	ClinGen ExAC gnomAD
TCGA novel	2688	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772368682 CA8891739	2689	F>S		No	ClinGen ExAC gnomAD
rs915017809 CA295978582	2690	S>N		No	ClinGen Ensembl
CA8891737 rs773992457	2695	S>C		No	ClinGen ExAC gnomAD
CA401912008 rs1471660737	2697	M>R		No	ClinGen TOPMed gnomAD
CA401912010 rs1471660737	2697	M>T		No	ClinGen TOPMed gnomAD
rs768198271 CA8891736	2697	M>V		No	ClinGen ExAC gnomAD
rs748809903 CA401911985	2698	F>L		No	ClinGen ExAC TOPMed gnomAD
rs528672056 CA8891734	2701	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA401911944 rs1214989061	2702	P>S		No	ClinGen gnomAD
rs368809105 CA8891733	2703	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8891732 rs189453524 RCV000966254	2706	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1274299783 CA401911892	2710	L>M		No	ClinGen gnomAD
rs1209648569 CA401911891	2710	L>S		No	ClinGen gnomAD
CA401911868 rs1598336703	2713	D>G		No	ClinGen Ensembl
CA295978556 rs914493094	2715	F>I		No	ClinGen TOPMed
rs1310838813	2716	L>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1310838813	2716	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401911843 rs1321406999	2717	V>I		No	ClinGen TOPMed
rs753034565 CA8891728	2718	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1443171024 CA401911798	2724	E>G		No	ClinGen gnomAD
CA8891726 rs546167077	2725	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs779242744 CA8891727	2725	L>V		No	ClinGen ExAC gnomAD
TCGA novel	2726	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs370887467 CA8891725	2728	D>N		No	ClinGen ESP ExAC gnomAD
CA401911764 rs1487364860	2729	L>P		No	ClinGen TOPMed
CA295978526 rs879004229	2730	Y>C		No	ClinGen TOPMed
rs1001797643 CA295978534	2730	Y>H		No	ClinGen TOPMed
CA295978529 rs879004229	2730	Y>S		No	ClinGen TOPMed
CA401911742 rs1158925255	2733	L>V		No	ClinGen gnomAD
rs761261279 CA8891723	2737	Y>H		No	ClinGen ExAC gnomAD
rs1378071178 CA401911707	2738	R>C		No	ClinGen TOPMed gnomAD
rs750883511 CA8891722	2738	R>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	2740	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401911691 rs1454299333	2741	E>G		No	ClinGen gnomAD
CA295978512 rs138885800	2741	E>Q		No	ClinGen ESP TOPMed
rs767940520 CA8891721	2743	M>I		No	ClinGen ExAC TOPMed gnomAD
CA401911676 rs1247804009	2743	M>T		No	ClinGen gnomAD
CA401911669 rs1386507860	2744	I>N		No	ClinGen TOPMed
CA401911649 rs1157941759	2746	W>C		No	ClinGen TOPMed
CA8891720 rs150256646	2748	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs866695977 CA295978500	2748	R>S		No	ClinGen Ensembl
CA401911640 rs1286869601	2748	R>T		No	ClinGen gnomAD
TCGA novel	2751	T>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs563248994 CA8891719	2752	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1432618446 CA401911607	2753	N>R		No	ClinGen TOPMed

4 associated diseases with Q9H5I5

[MIM: 108145]: Arthrogryposis, distal, 5 (DA5)

A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA5 features include ocular abnormalities, typically ptosis, ophthalmoplegia and/or strabismus, in addition to contractures of the skeletal muscles. Some patients have pulmonary hypertension as a result of restrictive lung disease. {ECO:0000269|PubMed:23487782, ECO:0000269|PubMed:24726473}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 114300]: Arthrogryposis, distal, 3 (DA3)

A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA3 features include short stature and cleft palate. {ECO:0000269|PubMed:24726473}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 248700]: Marden-Walker syndrome (MWKS)

A syndrome characterized by a mask-like face with blepharophimosis, micrognathia, cleft or high-arched palate, low-set ears, congenital joint contractures, kyphoscoliosis, pectus excavatum or carinatum, and arachnodactyly. Additional features include decreased muscular mass, failure to thrive, renal anomalies, hypoplastic corpus callosum, cerebellar vermis hypoplasia, enlarged cisterna magna, and psychomotor retardation. {ECO:0000269|PubMed:24726473}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 617146]: Arthrogryposis, distal, with impaired proprioception and touch (DAIPT)

A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DAIPT is an autosomal recessive disease characterized by selective loss of discriminative touch perception, ataxia, difficulty walking, dysmetria, and progressive skeletal contractures. {ECO:0000269|PubMed:27607563, ECO:0000269|PubMed:27653382}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA5 features include ocular abnormalities, typically ptosis, ophthalmoplegia and/or strabismus, in addition to contractures of the skeletal muscles. Some patients have pulmonary hypertension as a result of restrictive lung disease. {ECO:0000269|PubMed:23487782, ECO:0000269|PubMed:24726473}. Note=The disease is caused by variants affecting the gene represented in this entry.
A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA3 features include short stature and cleft palate. {ECO:0000269|PubMed:24726473}. Note=The disease is caused by variants affecting the gene represented in this entry.
A syndrome characterized by a mask-like face with blepharophimosis, micrognathia, cleft or high-arched palate, low-set ears, congenital joint contractures, kyphoscoliosis, pectus excavatum or carinatum, and arachnodactyly. Additional features include decreased muscular mass, failure to thrive, renal anomalies, hypoplastic corpus callosum, cerebellar vermis hypoplasia, enlarged cisterna magna, and psychomotor retardation. {ECO:0000269|PubMed:24726473}. Note=The disease is caused by variants affecting the gene represented in this entry.
A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DAIPT is an autosomal recessive disease characterized by selective loss of discriminative touch perception, ataxia, difficulty walking, dysmetria, and progressive skeletal contractures. {ECO:0000269|PubMed:27607563, ECO:0000269|PubMed:27653382}. Note=The disease is caused by variants affecting the gene represented in this entry.

2 regional properties for Q9H5I5

Type	Name	Position	InterPro Accession
domain	Piezo non-specific cation channel, R-Ras-binding domain	2340 - 2749	IPR031334
domain	Piezo domain	1367 - 1599	IPR031805

Functions

		Description
EC Number
Subcellular Localization	Cell membrane ; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
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.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

2 GO annotations of molecular function

Name	Definition
cation channel activity	Enables the energy-independent passage of cations across a lipid bilayer down a concentration gradient.
mechanosensitive ion channel activity	Enables the transmembrane transfer of an ion by a channel that opens in response to a mechanical stress.

6 GO annotations of biological process

Name	Definition
cation transport	The directed movement of cations, atoms or small molecules with a net positive charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
cellular response to mechanical stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a mechanical stimulus.
detection of mechanical stimulus	The series of events by which a mechanical stimulus is received and converted into a molecular signal.
detection of mechanical stimulus involved in sensory perception	The series of events in which a mechanical stimulus is received and converted into a molecular signal as part of sensory perception.
regulation of membrane potential	Any process that modulates the establishment or extent of a membrane potential, the electric potential existing across any membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane.
response to mechanical stimulus	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a mechanical stimulus.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
M9MSG8	Piezo	Piezo-type mechanosensitive ion channel component	Drosophila melanogaster (Fruit fly)	PR

10	20	30	40	50	60
MASEVVCGLI	FRLLLPICLA	VACAFRYNGL	SFVYLIYLLL	IPLFSEPTKT	TMQGHTGRLL
70	80	90	100	110	120
KSLCFISLSF	LLLHIIFHIT	LVSLEAQHRI	APGYNCSTWE	KTFRQIGFES	LKGADAGNGI
130	140	150	160	170	180
RVFVPDIGMF	IASLTIWLLC	RNIVQKPVTD	EAAQSNPEFE	NEELAEGEKI	DSEEALIYEE
190	200	210	220	230	240
DFNGGDGVEG	ELEESTKLKM	FRRLASVASK	LKEFIGNMIT	TAGKVVVTIL	LGSSGMMLPS
250	260	270	280	290	300
LTSSVYFFVF	LGLCTWWSWC	RTFDPLLFSC	LCVLLAIFTA	GHLIGLYLYQ	FQFFQEAVPP
310	320	330	340	350	360
NDYYARLFGI	KSVIQTDCSS	TWKIIVNPDL	SWYHHANPIL	LLVMYYTLAT	LIRIWLQEPL
370	380	390	400	410	420
VQDEGTKEED	KALACSPIQI	TAGRRRSLWY	ATHYPTDERK	LLSMTQDDYK	PSDGLLVTVN
430	440	450	460	470	480
GNPVDYHTIH	PSLPMENGPG	KADLYSTPQY	RWEPSDESSE	KREEEEEEKE	EFEEERSREE
490	500	510	520	530	540
KRSIKVHAMV	SVFQFIMKQS	YICALIAMMA	WSITYHSWLT	FVLLIWSCTL	WMIRNRRKYA
550	560	570	580	590	600
MISSPFMVVY	GNLLLILQYI	WSFELPEIKK	VPGFLEKKEP	GELASKILFT	ITFWLLLRQH
610	620	630	640	650	660
LTEQKALQEK	EALLSEVKIG	SQENEEKDEE	LQDIQVEGEP	KEEEEEEAKE	EKQERKKVEQ
670	680	690	700	710	720
EEAEEEDEQD	IMKVLGNLVV	AMFIKYWIYV	CGGMFFFVSF	EGKIVMYKII	YMVLFLFCVA
730	740	750	760	770	780
LYQVHYEWWR	KILKYFWMSV	VIYTMLVLIF	IYTYQFENFP	GLWQNMTGLK	KEKLEDLGLK
790	800	810	820	830	840
QFTVAELFTR	IFIPTSFLLV	CILHLHYFHD	RFLELTDLKS	IPSKEDNTIY	RLAHPEGSLP
850	860	870	880	890	900
DLTMMHLTAS	LEKPEVRKLA	EPGEEKLEGY	SEKAQKGDLG	KDSEESEEDG	EEEEESEEEE
910	920	930	940	950	960
ETSDLRNKWH	LVIDRLTVLF	LKFLEYFHKL	QVFMWWILEL	HIIKIVSSYI	IWVSVKEVSL
970	980	990	1000	1010	1020
FNYVFLISWA	FALPYAKLRR	LASSVCTVWT	CVIIVCKMLY	QLQTIKPENF	SVNCSLPNEN
1030	1040	1050	1060	1070	1080
QTNIPFNELN	KSLLYSAPID	PTEWVGLRKS	SPLLVYLRNN	LLMLAILAFE	VTIYRHQEYY
1090	1100	1110	1120	1130	1140
RGRNNLTAPV	SRTIFHDITR	LHLDDGLINC	AKYFINYFFY	KFGLETCFLM	SVNVIGQRMD
1150	1160	1170	1180	1190	1200
FYAMIHACWL	IAVLYRRRRK	AIAEIWPKYC	CFLACIITFQ	YFICIGIPPA	PCRDYPWRFK
1210	1220	1230	1240	1250	1260
GASFNDNIIK	WLYFPDFIVR	PNPVFLVYDF	MLLLCASLQR	QIFEDENKAA	VRIMAGDNVE
1270	1280	1290	1300	1310	1320
ICMNLDAASF	SQHNPVPDFI	HCRSYLDMSK	VIIFSYLFWF	VLTIIFITGT	TRISIFCMGY
1330	1340	1350	1360	1370	1380
LVACFYFLLF	GGDLLLKPIK	SILRYWDWLI	AYNVFVITMK	NILSIGACGY	IGTLVHNSCW
1390	1400	1410	1420	1430	1440
LIQAFSLACT	VKGYQMPAAN	SPCTLPSGEA	GIIWDSICFA	FLLLQRRVFM	SYYFLHVVAD
1450	1460	1470	1480	1490	1500
IKASQILASR	GAELFQATIV	KAVKARIEEE	KKSMDQLKRQ	MDRIKARQQK	YKKGKERMLS
1510	1520	1530	1540	1550	1560
LTQEPGEGQD	MQKLSEEDDE	READKQKAKG	KKKQWWRPWV	DHASMVRSGD	YYLFETDSEE
1570	1580	1590	1600	1610	1620
EEEEELKKED	EEPPRRSAFQ	FVYQAWITDP	KTALRQRHKE	KKRSAREERK	RRRKGSKEGP
1630	1640	1650	1660	1670	1680
VEWEDREDEP	IKKKSDGPDN	IIKRIFNILK	FTWVLFLATV	DSFTTWLNSI	SREHIDISTV
1690	1700	1710	1720	1730	1740
LRIERCMLTR	EIKKGNVPTR	ESIHMYYQNH	IMNLSRESGL	DTIDEHPGAA	SGAQTAHRMD
1750	1760	1770	1780	1790	1800
SLDSHDSISS	EPTQCTMLYS	RQGTTETIEE	VEAEQEEEAG	STAPEPREAK	EYEATGYDVG
1810	1820	1830	1840	1850	1860
AMGAEEASLT	PEEELTQFST	LDGDVEAPPS	YSKAVSFEHL	SFGSQDDSAG	KNRMAVSPDD
1870	1880	1890	1900	1910	1920
SRTDKLGSSI	LPPLTHELTA	SELLLKKMFH	DDELEESEKF	YVGQPRFLLL	FYAMYNTLVA
1930	1940	1950	1960	1970	1980
RSEMVCYFVI	ILNHMVSASM	ITLLLPILIF	LWAMLSVPRP	SRRFWMMAIV	YTEVAIVVKY
1990	2000	2010	2020	2030	2040
FFQFGFFPWN	KNVEVNKDKP	YHPPNIIGVE	KKEGYVLYDL	IQLLALFFHR	SILKCHGLWD
2050	2060	2070	2080	2090	2100
EDDMTESGMA	REESDDELSL	GHGRRDSSDS	LKSINLAASV	ESVHVTFPEQ	QTAVRRKRSG
2110	2120	2130	2140	2150	2160
SSSEPSQRSS	FSSNRSQRGS	TSTRNSSQKG	SSVLSIKQKG	KRELYMEKLQ	EHLIKAKAFT
2170	2180	2190	2200	2210	2220
IKKTLEIYVP	IKQFFYNLIH	PEYSAVTDVY	VLMFLADTVD	FIIIVFGFWA	FGKHSAAADI
2230	2240	2250	2260	2270	2280
TSSLSEDQVP	GPFLVMVLIQ	FGTMVVDRAL	YLRKTVLGKV	IFQVILVFGI	HFWMFFILPG
2290	2300	2310	2320	2330	2340
VTERKFSQNL	VAQLWYFVKC	VYFGLSAYQI	RCGYPTRVLG	NFLTKSYNYV	NLFLFQGFRL
2350	2360	2370	2380	2390	2400
VPFLTELRAV	MDWVWTDTTL	SLSSWICVED	IYAHIFILKC	WRESEKRYPQ	PRGQKKKKVV
2410	2420	2430	2440	2450	2460
KYGMGGMIIV	LLICIVWFPL	LFMSLIKSVA	GVINQPLDVS	VTITLGGYQP	IFTMSAQQSQ
2470	2480	2490	2500	2510	2520
LKVMDQQSFN	KFIQAFSRDT	GAMQFLENYE	KEDITVAELE	GNSNSLWTIS	PPSKQKMIHE
2530	2540	2550	2560	2570	2580
LLDPNSSFSV	VFSWSIQRNL	SLGAKSEIAT	DKLSFPLKNI	TRKNIAKMIA	GNSTESSKTP
2590	2600	2610	2620	2630	2640
VTIEKIYPYY	VKAPSDSNSK	PIKQLLSENN	FMDITIILSR	DNTTKYNSEW	WVLNLTGNRI
2650	2660	2670	2680	2690	2700
YNPNSQALEL	VVFNDKVSPP	SLGFLAGYGI	MGLYASVVLV	IGKFVREFFS	GISHSIMFEE
2710	2720	2730	2740	2750
LPNVDRILKL	CTDIFLVRET	GELELEEDLY	AKLIFLYRSP	ETMIKWTREK	TN