AiPD: Autoinhibited Protein Database

Q8TDN2

Gene name	KCNV2
Protein name	Potassium voltage-gated channel subfamily V member 2
Names	Voltage-gated potassium channel subunit Kv8.2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:169522
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

186-256 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

186-256 (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

1 structures for Q8TDN2

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8TDN2-F1	Predicted				AlphaFoldDB

1017 variants for Q8TDN2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000255104 rs786205121 RCV000033031 RCV000504838	3	K>missing	Cone dystrophy with supernormal rod response Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
CA4965286 RCV001166030 rs370186140	7	R>M	Cone dystrophy with supernormal rod response Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs774058342 RCV001307360 CA4965297 RCV002486200	13	Y>C	Cone dystrophy with supernormal rod response [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001226707 CA187970128 rs748032810 RCV002562612	14	R>K	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA239009 rs146685593 RCV001075622 RCV001166031 RCV000173557	16	W>C	Cone dystrophy with supernormal rod response Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000988139 RCV000132690 rs145731729 CA232858 COSM1211671 RCV000490298	27	R>H	Cone dystrophy with supernormal rod response Cone dystrophy 3 large_intestine [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001167601 rs771666119 CA4965313	35	A>T	Cone dystrophy with supernormal rod response [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs148031263 RCV001399740 CA4965321 RCV000387893	41	A>T	Cone dystrophy with supernormal rod response [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001317249 RCV000329920 rs777604507 CA4965331	49	G>S	Cone dystrophy with supernormal rod response [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs950492553 RCV001327982	51	Y>*	Cone dystrophy with supernormal rod response [ClinVar]	Yes	ClinVar dbSNP
rs1819763573 RCV001167602	54	Y>S	Cone dystrophy with supernormal rod response [ClinVar]	Yes	ClinVar dbSNP
rs543226684 RCV002068031 RCV001168230 CA4965362 RCV003163370 CA4965363	67	W>R	Cone dystrophy with supernormal rod response Inborn genetic diseases [ClinVar]	Yes	ClinGen ExAC TOPMed gnomAD ClinVar dbSNP
CA4965372 rs752013234 RCV001168231	73	E>Q	Cone dystrophy with supernormal rod response [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000030811 rs387907302 RCV002513278 CA130127	76	Q>*	Cone dystrophy with supernormal rod response [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA4965382 RCV000345481 rs370044423 RCV001236911	82	T>I	Cone dystrophy with supernormal rod response [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA372796174 RCV002557446 RCV001168232 rs1361483057	85	K>E	Cone dystrophy with supernormal rod response [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1554628460 RCV000504999	98	T>missing	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001075580 rs202036979 RCV001376514 CA187971118	113	C>*	Cone dystrophy with supernormal rod response Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000030810 rs1402837406 RCV000787847 RCV000787846	120	K>missing	Cone dystrophy with supernormal rod response Progressive cone dystrophy (without rod involvement) Stargardt disease [ClinVar]	Yes	ClinVar dbSNP
rs776275880 CA187971220 VAR_027632	126	L>Q	RCD3B [UniProt]	Yes	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs141099767 RCV001074729	128	T>missing	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
COSM143445 rs541196988 RCV001168981 CA4965430 RCV001521721	130	T>I	Cone dystrophy with supernormal rod response skin [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001003061 rs1586686845	138	L>missing	cone dystrophy with supernormal rod electroretinogram [ClinVar]	Yes	ClinVar dbSNP
rs748280472 RCV001053618 RCV001542670 CA4965440	139	C>*	Cone dystrophy with supernormal rod response [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000003146 CA115916 rs104894113 RCV001851603	143	E>*	Cone dystrophy with supernormal rod response [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001168982 CA4965444 RCV001239719 rs777051584	144	E>K	Cone dystrophy with supernormal rod response [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs140256288 RCV001389651 CA130576 RCV000033032	148	E>*	Cone dystrophy with supernormal rod response [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001199695 CA4965453 rs140256288 RCV001168984	148	E>K	Cone dystrophy with supernormal rod response Variant assessed as Somatic; 4.731e-05 impact. Cone dystrophy [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001003062 rs1586686896 CA372797947	152	D>G	cone dystrophy with supernormal rod electroretinogram [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001262251 rs377667539	152	D>Y	Cone dystrophy with supernormal rod response [ClinVar]	Yes	ClinVar dbSNP
rs397514604 RCV002513309 CA130578 RCV000033033	164	F>S	Cone dystrophy with supernormal rod response [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1819778559 RCV001075320	177	C>missing	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001074332 rs751600925 CA4965492	177	C>R	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA4965504 rs772921412 VAR_027633	188	W>C	RCD3B [UniProt]	Yes	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
RCV000504647 rs977790637 CA372798451	188	W>R	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs780813722 CA372798547 RCV001166089	206	R>L	Cone dystrophy with supernormal rod response [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs780813722 RCV001873542 CA4965539 RCV001166088	206	R>Q	Cone dystrophy with supernormal rod response Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA4965553 RCV001073734 rs763785730	215	K>*	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001246020 RCV000929144 CA4965554 RCV001166556 RCV000592241 rs201327014	215	K>N	Cone dystrophy with supernormal rod response [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA372798664 RCV001166557 rs776156112	224	A>V	Cone dystrophy with supernormal rod response [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000082509 RCV000961897 CA149463 RCV000300854 rs74587818	226	V>I	Cone dystrophy with supernormal rod response [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1819786525 RCV001166558	236	M>R	Cone dystrophy with supernormal rod response [ClinVar]	Yes	ClinVar dbSNP
RCV001073644 rs1819787095	241	P>*	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001003063 rs1586687216	242	Q>missing	cone dystrophy with supernormal rod electroretinogram [ClinVar]	Yes	ClinVar dbSNP
rs1023306854 VAR_087564 CA372798943	244	R>P	RCD3B; loss of interaction with KCNB1 [UniProt]	Yes	ClinGen TOPMed gnomAD UniProt
RCV001003064 rs1586687247	253	P>missing	cone dystrophy with supernormal rod electroretinogram [ClinVar]	Yes	ClinVar dbSNP
RCV001166559 rs147022958 CA4965611 RCV002558630 RCV001227760 CA4965610	254	F>L	Cone dystrophy with supernormal rod response Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs104894116 CA115923 VAR_027634 RCV000003150	256	S>W	Cone dystrophy with supernormal rod response RCD3B [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
VAR_027635	259	A>V	RCD3B [UniProt]	Yes	UniProt
rs755071813 RCV001860528 CA4965621 RCV001003065	261	A>D	cone dystrophy with supernormal rod electroretinogram [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs745567670 CA4965628 RCV001168303	266	S>A	Cone dystrophy with supernormal rod response [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001341362 CA4965636 rs754107665 RCV001168305	274	V>M	Cone dystrophy with supernormal rod response [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001169037 RCV000956696 CA4965647 rs148050307	285	M>R	Cone dystrophy with supernormal rod response [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA115918 RCV000003147 rs104894114	306	E>*	Cone dystrophy with supernormal rod response [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
CA4965691 rs202200956 RCV001073733 RCV001306522	311	G>R	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001360382 RCV001074896 CA4965690 rs202200956	311	G>S	Variant assessed as Somatic; 0.0 impact. Retinal dystrophy [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001271077 rs1819796278	315	L>missing	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinVar dbSNP
CA4965696 RCV002552493 RCV001040408 rs761886297	316	E>Q	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs754275640 CA4965700 RCV001213919 RCV001003066	320	R>C	Variant assessed as Somatic; 0.0 impact. cone dystrophy with supernormal rod electroretinogram [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
rs754275640 RCV001074484	320	R>G	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs1819797791 RCV001075321 RCV001236208	328	R>missing	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001075669 rs1819797955	330	F>S	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001169039 rs545829113 CA4965715 RCV000895582	331	A>S	Cone dystrophy with supernormal rod response [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs986350598 RCV001862724 RCV001003067	333	S>missing	cone dystrophy with supernormal rod electroretinogram [ClinVar]	Yes	ClinVar dbSNP
RCV001049803 rs786205064 RCV000003149	339	D>missing	Cone dystrophy with supernormal rod response [ClinVar]	Yes	ClinVar dbSNP
VAR_027636	339	D>del	RCD3B [UniProt]	Yes	UniProt
CA4965739 RCV001166136 rs530163400 RCV001873543	347	Y>F	Cone dystrophy with supernormal rod response [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001044742 RCV002505576 RCV003160330 rs201425989 CA4965741	348	L>P	Cone dystrophy with supernormal rod response Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000367213 rs886063821	352	L>missing	Cone dystrophy with supernormal rod response [ClinVar]	Yes	ClinVar dbSNP
CA4965748 rs75645675 RCV000272254 RCV001073732 RCV000926430	355	F>L	Cone dystrophy with supernormal rod response Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV002548491 RCV001352978 rs1486482604	366	V>missing	Cone dystrophy with supernormal rod response [ClinVar]	Yes	ClinVar dbSNP
rs534563578 CA10633679 RCV000381860	370	G>A	Cone dystrophy with supernormal rod response [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
CA4965767 rs201564009 RCV001054251 RCV001166137	373	G>A	Cone dystrophy with supernormal rod response [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs568147806 CA4965770 RCV001333495 RCV001506669	375	V>M	Cone dystrophy with supernormal rod response [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA4965790 rs757516625 RCV000268726 RCV000999126	382	M>L	Cone dystrophy with supernormal rod response [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA4965792 RCV000323959 RCV002523784 rs141881396 RCV001043983	383	R>L	Cone dystrophy with supernormal rod response Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs376016220 RCV001317915 CA4965801 RCV003166835 CA372802303	389	K>N	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001092994 RCV001199694 CA4965812 rs138924201	396	G>*	Cone dystrophy [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001166621 rs1413316237 CA372802591 RCV001859084	420	M>V	Cone dystrophy with supernormal rod response [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs778977288 RCV000778879 CA4965863 RCV001075336	449	W>*	Cone dystrophy with supernormal rod response Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
COSM1554770 CA372802776 rs748180390 RCV001166625 RCV001859085	450	W>R	lung Cone dystrophy with supernormal rod response Variant assessed as Somatic; 0.0 impact. [Cosmic, ClinVar, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA4965869 RCV002562392 RCV001213265 rs139767162	452	A>V	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA115920 VAR_027637 rs104894115 RCV000003148	459	G>D	Cone dystrophy with supernormal rod response RCD3B [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001075668 rs149648640 RCV001245357 CA4965905 RCV001270117 RCV000030809	461	G>R	Cone dystrophy with supernormal rod response Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001075621 RCV002557926 rs1414078352	462	D>missing	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs773096508 RCV001074330 CA372803352	463	M>R	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000585344 RCV002530867 CA187990009 rs990370382	470	G>S	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV003130200 rs1820027191 RCV001226841	471	R>W	Cone dystrophy with supernormal rod response [ClinVar]	Yes	ClinVar dbSNP
rs1586692857 RCV001003068 CA372803461	481	G>R	cone dystrophy with supernormal rod electroretinogram [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000365099 CA4965948 RCV000245885 VAR_027638 RCV001514496 rs12352254	533	L>V	Cone dystrophy with supernormal rod response [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4965951 rs77811928 RCV001517133 RCV001168488	536	N>S	Cone dystrophy with supernormal rod response [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4965952 RCV002552065 RCV001034801 rs757778905	537	P>S	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs112673841 RCV000272866 CA4965956 RCV000975201	539	L>P	Cone dystrophy with supernormal rod response [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1277326730 CA372795162	2	L>F		No	ClinGen TOPMed gnomAD
CA372795219 rs148953795	4	Q>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs148953795 CA4965283	4	Q>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA372795236 rs1260644614	4	Q>H		No	ClinGen TOPMed
rs996620453 CA372795253	5	S>N		No	ClinGen TOPMed
CA372795264 rs377071035	5	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA187970044 rs996620453	5	S>T		No	ClinGen TOPMed
rs1436024276 CA372795289	6	E>D		No	ClinGen TOPMed
CA4965285 rs143189186	6	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1385132304 RCV001213312	7	R>missing		No	ClinVar dbSNP
RCV001246256 CA4965287 rs370186140	7	R>K		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA4965288 rs757360187	7	R>S		No	ClinGen ExAC TOPMed gnomAD
rs370186140 RCV001298766	7	R>T		No	ClinVar dbSNP
CA372795322 rs1194936225	8	R>K		No	ClinGen TOPMed gnomAD
CA372795324 rs1194936225	8	R>T		No	ClinGen TOPMed gnomAD
CA4965291 COSM1211669 rs770351405	9	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs746359393 CA4965290	9	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA372795361 rs749701939	10	S>A		No	ClinGen ExAC gnomAD
rs768154610 COSM1729948 CA4965294	10	S>C	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs768154610 CA372795371	10	S>F		No	ClinGen ExAC gnomAD
CA4965293 rs749701939	10	S>P		No	ClinGen ExAC gnomAD
rs780825495 CA187970118	12	S>I		No	ClinGen TOPMed
rs780825495 CA4965295	12	S>N		No	ClinGen TOPMed
CA372795425 rs1160930010	12	S>R		No	ClinGen gnomAD
CA187970115 rs780825495	12	S>T		No	ClinGen TOPMed
CA187970123 rs1033681137	13	Y>*		No	ClinGen TOPMed
rs771599426 CA4965299	15	P>L		No	ClinGen ExAC gnomAD
rs761171845 CA4965298	15	P>S		No	ClinGen ExAC gnomAD
rs1339778237 RCV001350194 CA372795510	16	W>L		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA372795497 rs1313275350	16	W>R		No	ClinGen gnomAD
rs1289682071 CA372795542	17	N>K		No	ClinGen gnomAD
rs766476272 CA372795567	19	T>M		No	ClinGen ExAC TOPMed gnomAD
CA4965301 rs766476272	19	T>R		No	ClinGen ExAC TOPMed gnomAD
rs199939330 CA4965304	20	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs76776637 RCV000173559 RCV000965093 CA200615	20	E>K		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1257547518 CA372795604	22	E>*		No	ClinGen TOPMed gnomAD
rs1423736762 CA372795610	22	E>D		No	ClinGen TOPMed gnomAD
CA372795597 rs1257547518	22	E>K		No	ClinGen TOPMed gnomAD
CA372795616 rs1181279762	23	G>C		No	ClinGen gnomAD
rs1381565461 CA372795625	23	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA372795663 rs1586686399	26	H>P		No	ClinGen Ensembl
CA372795668 rs1240612092	27	R>S		No	ClinGen gnomAD
CA372795675 rs1462010034	28	R>K		No	ClinGen Ensembl
rs781326115 CA372795678 CA4965306	28	R>S		No	ClinGen ExAC TOPMed gnomAD
rs145394914 CA4965307	29	S>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4965308 rs780560766	29	S>N		No	ClinGen ExAC gnomAD
CA372795688 rs777796916	30	I>N		No	ClinGen gnomAD
CA187970203 rs777796916	30	I>T		No	ClinGen gnomAD
rs1202370414 CA372795700	32	S>A		No	ClinGen TOPMed
CA187970210 rs943990673	32	S>F		No	ClinGen TOPMed
rs943990673 CA372795702	32	S>Y		No	ClinGen TOPMed
rs1313031061 CA372795706	33	L>Q		No	ClinGen gnomAD
rs747836038 CA4965312	34	G>D		No	ClinGen ExAC gnomAD
CA187970226 rs949623104	34	G>S		No	ClinGen Ensembl
rs771666119 CA372795713	35	A>P		No	ClinGen ExAC gnomAD
rs201847891 CA4965314 COSM240315	36	R>H	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1212734518 CA372795725	37	S>A		No	ClinGen gnomAD
rs1310893772 CA372795731	38	G>D		No	ClinGen TOPMed
rs770947786 CA4965316	38	G>S		No	ClinGen ExAC gnomAD
rs759192531 COSM300230 CA4965318	40	Q>*	large_intestine Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs765065154 CA4965320	40	Q>H		No	ClinGen ExAC gnomAD
rs1227914458 CA372795743	40	Q>R		No	ClinGen TOPMed
CA372795752 rs1434536722	42	S>G		No	ClinGen gnomAD
rs1440777868 CA372795757	42	S>R		No	ClinGen TOPMed gnomAD
CA4965322 rs527441501	44	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA4965324 rs750453951	45	G>S		No	ClinGen ExAC TOPMed gnomAD
CA4965325 rs756190670	45	G>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	46	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV001242131 rs140834504 CA4965327	46	W>R		No	ClinGen ClinVar ESP ExAC dbSNP gnomAD
CA4965328 rs367879192	47	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA372795789 rs367879192	47	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA372795790 rs748514237	48	E>K		No	ClinGen ExAC TOPMed gnomAD
rs748514237 CA4965330	48	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs746448587 RCV001294822 CA4965332	49	G>D		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs777604507 CA372795797	49	G>R		No	ClinGen ExAC TOPMed gnomAD
CA372795799 rs746448587	49	G>V		No	ClinGen ExAC TOPMed gnomAD
rs757537568 CA372795801	50	N>D		No	ClinGen TOPMed gnomAD
RCV000509314 rs757537568 CA187970382	50	N>H		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA4965333 rs770575580	50	N>I		No	ClinGen ExAC gnomAD
CA4965334 rs776336282	50	N>K		No	ClinGen ExAC gnomAD
RCV001231662 rs770575580	50	N>S		No	ClinVar dbSNP
rs201072890 RCV001316754 CA4965337	51	Y>C		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs745811275 CA4965335	51	Y>H		No	ClinGen ExAC gnomAD
rs1191350661 CA372795823	53	Y>C		No	ClinGen gnomAD
CA4965338 rs530044085	53	Y>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4965340 rs138656434	54	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA4965341 rs541608166	55	I>N		No	ClinGen ExAC TOPMed gnomAD
CA4965342 rs541608166 RCV001341998	55	I>T		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA4965345 rs201975160	56	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM178419 rs766443513 CA4965343	56	E>K	lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
RCV001235666 rs1819764161	57	E>A		No	ClinVar dbSNP
rs1352767033 CA372795845	57	E>K		No	ClinGen gnomAD
rs765689407 CA4965346	58	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1412168165 CA372795853	58	D>N		No	ClinGen TOPMed
rs1345092793 CA372795866	59	E>D		No	ClinGen gnomAD
rs753070311 COSM232597 CA4965347	59	E>K	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs753070311 CA372795860	59	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1819764524 RCV001320517	60	D>H		No	ClinVar dbSNP
rs762687075 RCV001233801	61	G>D		No	ClinVar dbSNP
CA4965350 rs1554628481	61	G>D		No	ClinGen Ensembl
rs758833258 CA4965348	61	G>S		No	ClinGen ExAC TOPMed gnomAD
CA372795884 CA4965354 rs746642826	62	E>D		No	ClinGen ExAC TOPMed gnomAD
rs777506343 CA4965353	62	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1819765042 RCV001069977	62	E>K		No	ClinVar dbSNP
CA372795886 rs370779648	63	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA4965355 rs370779648	63	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs561533607 RCV001049772 CA372795897	64	E>D		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs146541413 CA4965357	64	E>K		No	ClinGen 1000Genomes ExAC TOPMed
rs768611383	64	E>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
RCV001317405 rs774310851	64	E>missing		No	ClinVar dbSNP
rs1489702862 CA372795903	65	D>A		No	ClinGen TOPMed gnomAD
rs745416881 CA372795899	65	D>H		No	ClinGen ExAC TOPMed gnomAD
RCV001315801 CA4965358 rs745416881	65	D>N		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs779887176 CA4965360	66	Q>*		No	ClinGen ExAC gnomAD
CA4965361 rs745489619	66	Q>H		No	ClinGen ExAC gnomAD
rs1417482688 CA372795912	67	W>*		No	ClinGen TOPMed gnomAD
CA187970617 CA4965365 rs771193813 RCV001248452	67	W>C		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA4965364 rs543226684 RCV001347182	67	W>G		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs776727537 CA4965366	68	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs1300449387 CA372795947	69	D>A		No	ClinGen gnomAD
CA187970663 rs141193056	69	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4965367 rs759561865	69	D>H		No	ClinGen ExAC gnomAD
rs1470002004 CA372795957	70	D>Y		No	ClinGen gnomAD
rs1430683520 CA372795967	71	L>M		No	ClinGen gnomAD
CA4965369 rs753161957	71	L>P		No	ClinGen ExAC gnomAD
CA187970680 rs1035815976	72	A>E		No	ClinGen TOPMed
CA372795986 rs1228440224 RCV001324036	72	A>S		No	ClinGen ClinVar dbSNP gnomAD
rs1228440224 CA372795982	72	A>T		No	ClinGen gnomAD
rs1035815976 CA372795993	72	A>V		No	ClinGen TOPMed
rs752013234 CA372796010	73	E>*		No	ClinGen ExAC gnomAD
rs1412929916 CA372796016	73	E>V		No	ClinGen gnomAD
CA372796026 rs756949524	74	E>*		No	ClinGen ExAC TOPMed gnomAD
rs749909517 CA4965375	74	E>A		No	ClinGen ExAC gnomAD
CA187970732 rs139063852 RCV001303863	74	E>D		No	ClinGen ClinVar ESP dbSNP
rs756949524 CA4965373	74	E>K		No	ClinGen ExAC TOPMed gnomAD
rs756949524 CA4965374	74	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA372796037 rs1487809111	75	D>N		No	ClinGen gnomAD
rs1434725145 CA372796068	76	Q>H		No	ClinGen TOPMed
CA372796060 rs1176664035	76	Q>P		No	ClinGen TOPMed
rs1190724822 CA372796072	77	Q>*		No	ClinGen gnomAD
rs1417069678 CA372796082	77	Q>H		No	ClinGen TOPMed
CA4965376 rs755584472	77	Q>P		No	ClinGen ExAC gnomAD
rs779672220 CA4965377	78	A>E		No	ClinGen ExAC gnomAD
CA187970749 rs976636702	79	G>A		No	ClinGen TOPMed
rs976636702 CA187970768	79	G>E		No	ClinGen TOPMed
rs1186928772 CA372796104	79	G>R		No	ClinGen TOPMed
rs374187513 CA372796124	80	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA372796120 rs1401073803	80	E>G		No	ClinGen gnomAD
rs778654754 CA4965381	81	V>F		No	ClinGen ExAC TOPMed gnomAD
rs1586686648 CA372796136	81	V>G		No	ClinGen Ensembl
CA4965380 rs778654754	81	V>I		No	ClinGen ExAC TOPMed gnomAD
CA372796145 rs370044423	82	T>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1586686649 CA372796138	82	T>P		No	ClinGen Ensembl
rs1586686654 CA372796156	83	T>P		No	ClinGen Ensembl
rs375827258 CA187970860	84	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs375827258 CA4965385	84	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs375827258 CA4965384	84	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs763526364 CA372796180	85	K>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	85	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764748937 CA187970874	86	P>A		No	ClinGen ExAC gnomAD
CA372796185 rs1379886188	86	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs764748937 CA4965388	86	P>S		No	ClinGen ExAC gnomAD
CA372796197 rs1400825004	87	E>G		No	ClinGen TOPMed
rs1303385155 CA372796213	88	G>V		No	ClinGen TOPMed
CA372796231 rs1309589817	90	S>G		No	ClinGen gnomAD
TCGA novel	90	S>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372796254 rs1586686668	91	D>A		No	ClinGen Ensembl
CA372796259 rs1369300851	91	D>E		No	ClinGen TOPMed gnomAD
rs1016081678 CA187970909	91	D>N		No	ClinGen TOPMed
COSM176957 rs1449828854 CA372796287	93	P>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA372796282 rs1563794728	93	P>S		No	ClinGen Ensembl
rs755862395 CA4965393	94	A>D		No	ClinGen ExAC TOPMed gnomAD
CA4965392 RCV001400754 rs148550258 RCV000242419	94	A>T		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1201543395 CA372796335	97	S>C		No	ClinGen TOPMed
CA372796337 rs1201543395	97	S>F		No	ClinGen TOPMed
CA372796332 rs1242645026	97	S>P		No	ClinGen gnomAD
CA187970974 rs367842869	98	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA4965395 rs367842869	98	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1180564074 CA372796348	98	T>S		No	ClinGen gnomAD
rs778850731 CA4965396	99	L>M		No	ClinGen ExAC gnomAD
rs1427633996 CA372796366	99	L>Q		No	ClinGen gnomAD
rs758137075 CA4965398	100	N>S		No	ClinGen ExAC gnomAD
rs746076092 CA4965400	101	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1334862251 CA372796429	102	N>H		No	ClinGen gnomAD
rs1586686718 CA372796469	103	V>A		No	ClinGen Ensembl
CA4965401 rs758286104	103	V>M		No	ClinGen ExAC TOPMed gnomAD
rs749403107 CA4965403	104	G>R		No	ClinGen ExAC TOPMed gnomAD
RCV001342129 rs762210764 CA372796508	105	G>D		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs775004479 CA4965404	105	G>S		No	ClinGen ExAC gnomAD
rs762210764 CA4965405	105	G>V		No	ClinGen ExAC gnomAD
CA4965407 rs773664901	106	H>Q		No	ClinGen ExAC gnomAD
CA372796572 rs1179870364	107	S>R		No	ClinGen TOPMed gnomAD
CA372796564 rs1437480349	107	S>T		No	ClinGen gnomAD
rs760221718 CA4965408	108	Y>*		No	ClinGen ExAC gnomAD
CA187971081 rs575586569	108	Y>N		No	ClinGen 1000Genomes
CA372796610 rs1478587308	109	Q>*		No	ClinGen gnomAD
CA4965410 rs753302163	109	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA4965409 rs140189519	109	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs372942165 CA372796626	110	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1170786201 CA372796629	110	L>P		No	ClinGen gnomAD
CA187971093 rs372942165 RCV001326238	110	L>V		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA372796631 rs935582841	111	D>H		No	ClinGen gnomAD
rs935582841 CA187971101	111	D>N		No	ClinGen gnomAD
CA4965413 rs752621455	113	C>S		No	ClinGen ExAC gnomAD
rs202036979 CA4965415	113	C>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs758432224 CA4965414	113	C>Y		No	ClinGen ExAC gnomAD
rs746873819 CA4965416	114	E>K		No	ClinGen ExAC TOPMed gnomAD
CA4965417 rs201674494	115	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4965420 rs768870558	116	A>P		No	ClinGen ExAC gnomAD
CA372796668 rs1323989136	117	G>D		No	ClinGen gnomAD
RCV001045230 COSM1314741 rs200353727 CA4965421	117	G>S	Variant assessed as Somatic; 0.0 impact. large_intestine urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1483599440 CA372796672	118	F>L		No	ClinGen TOPMed
rs1586686778 CA372796675	118	F>S		No	ClinGen Ensembl
rs748571527 CA372796681	119	P>A		No	ClinGen ExAC TOPMed gnomAD
CA372796682 rs1490572591	119	P>H		No	ClinGen TOPMed gnomAD
CA4965422 rs748571527	119	P>S		No	ClinGen ExAC TOPMed gnomAD
CA372796690 rs1199220423	120	K>M		No	ClinGen gnomAD
rs1246405786 CA372796691	120	K>N		No	ClinGen TOPMed
CA372796695 rs1267139735	121	T>A		No	ClinGen gnomAD
CA4965423 rs772682207	121	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA372796699 rs761130319	122	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4965425 rs761130319	122	R>G		No	ClinGen ExAC TOPMed gnomAD
CA372796700 rs1460071197	122	R>H		No	ClinGen gnomAD
CA372796709 rs1423596411	123	L>P		No	ClinGen gnomAD
rs765877654 CA4965426	123	L>V		No	ClinGen ExAC gnomAD
rs1819773282 RCV001315239	123	L>missing		No	ClinVar dbSNP
RCV001227688 CA372796733 rs1342075631	125	R>H		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs776275880 CA4965427	126	L>P		No	ClinGen ExAC TOPMed gnomAD
CA4965428 rs759241107	127	A>T		No	ClinGen ExAC gnomAD
RCV001320626 CA372796754 rs1225416665	127	A>V		No	ClinGen ClinVar dbSNP gnomAD
rs1586686817 CA372796755	128	T>P		No	ClinGen Ensembl
rs764727253 CA4965429	130	T>P		No	ClinGen ExAC gnomAD
rs541196988 CA4965431	130	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs143936775 CA4965432	131	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA372796807 rs1292608116	132	R>C		No	ClinGen gnomAD
CA372796820 rs1235101305	133	S>G		No	ClinGen TOPMed
RCV001351515 rs199735148 CA4965434	133	S>N		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
TCGA novel	133	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs370129493 CA187971306	134	R>C		No	ClinGen TOPMed
rs1261691565 CA372796840	134	R>H		No	ClinGen TOPMed gnomAD
rs754099727 CA4965436	135	Q>H		No	ClinGen ExAC gnomAD
RCV001297375 CA4965437 rs755292064	136	L>P		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs953979254 RCV001309448 CA187971313	137	S>N		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA187971315 rs932944724	137	S>R		No	ClinGen TOPMed gnomAD
CA372796900 RCV001326039 rs1362037820	139	C>Y		No	ClinGen ClinVar dbSNP gnomAD
RCV001236206 rs886131960 CA187971368	140	D>E		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA4965441 rs778345203	140	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1004802068 CA187971378	141	D>G		No	ClinGen gnomAD
rs1397652158 CA372796923	141	D>N		No	ClinGen gnomAD
CA4965442 rs747275875	142	Y>C		No	ClinGen ExAC gnomAD
rs771269109 CA4965443	143	E>G		No	ClinGen ExAC gnomAD
RCV001215041 rs104894113 CA187971394	143	E>K		No	ClinGen ClinVar Ensembl dbSNP
CA372796976 rs530006522	144	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA187971420 RCV001327547 rs945133207	144	E>G		No	ClinGen ClinVar TOPMed dbSNP
rs777051584 CA4965445	144	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs774816084 CA4965447	145	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs762556896 CA4965448	145	Q>H		No	ClinGen ExAC
CA372796983 rs1171301114	145	Q>R		No	ClinGen TOPMed
CA4965449 rs763872477	146	T>I		No	ClinGen ExAC gnomAD
CA372797006 rs761713749	147	D>A		No	ClinGen ExAC TOPMed gnomAD
rs146659188 RCV000173562 CA239013	147	D>E		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs751529297 CA372797001	147	D>N		No	ClinGen ExAC TOPMed gnomAD
CA4965451 rs761713749	147	D>V		No	ClinGen ExAC TOPMed gnomAD
rs751529297 CA4965450	147	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1302233747 CA372797054	150	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1419285928 CA372797050	150	F>Y		No	ClinGen gnomAD
CA4965455 rs752649092 RCV001066795	151	F>L		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA372797945 rs1586686896	152	D>A		No	ClinGen Ensembl
rs747542620 CA4965458	152	D>E		No	ClinGen ExAC gnomAD
CA4965457 rs377667539	152	D>H		No	ClinGen ESP ExAC gnomAD
CA372797938 rs377667539	152	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs771471592 CA4965460	153	R>C		No	ClinGen ExAC gnomAD
CA4965459 rs771471592	153	R>G		No	ClinGen ExAC gnomAD
COSM487338 rs746257061 CA4965461	153	R>H	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA372797977 rs769400306	154	D>H		No	ClinGen ExAC gnomAD
rs769400306 CA4965462	154	D>N		No	ClinGen ExAC gnomAD
rs200711754 CA187971635	155	P>Q		No	ClinGen Ensembl
rs762314332 CA4965464	156	A>T		No	ClinGen ExAC gnomAD
CA4965465 RCV001046397 rs766337592	156	A>V		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA187971670 rs563575183	157	V>A		No	ClinGen 1000Genomes
rs773801117 CA4965467	157	V>F		No	ClinGen ExAC gnomAD
rs773801117 CA4965466	157	V>I		No	ClinGen ExAC gnomAD
CA372798041 rs1325387882	158	F>L		No	ClinGen gnomAD
CA4965471 rs760548669	161	V>F		No	ClinGen ExAC gnomAD
CA4965470 rs760548669	161	V>L		No	ClinGen ExAC gnomAD
CA4965472 rs149893780 RCV001299385	162	Y>F		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1176228022 CA372798127	163	N>S		No	ClinGen gnomAD
CA187971707 rs1019407895	164	F>V		No	ClinGen TOPMed
rs751644579 CA4965474	165	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA372798158 rs751644579	165	Y>S		No	ClinGen ExAC TOPMed gnomAD
CA372798173 rs1414339315	166	L>P		No	ClinGen TOPMed
CA4965477 rs746165503	167	S>C		No	ClinGen ExAC gnomAD
rs748966973 CA4965480	168	G>A		No	ClinGen ExAC gnomAD
CA4965479 rs780340984	168	G>R		No	ClinGen ExAC TOPMed gnomAD
CA187971789 rs933040040	169	V>G		No	ClinGen TOPMed
CA4965482 rs768242305	169	V>L		No	ClinGen ExAC gnomAD
RCV001039459 rs768242305 CA4965481	169	V>M		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs1284306486 CA372798209	170	L>M		No	ClinGen gnomAD
rs1186756066 CA372798239	172	V>A		No	ClinGen TOPMed
rs773293657 CA4965485 CA372798231	172	V>L		No	ClinGen ExAC TOPMed gnomAD
CA372798233 rs773293657	172	V>M		No	ClinGen ExAC TOPMed gnomAD
CA372798248 RCV001223482 rs760750739	173	L>F		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA4965486 rs760750739	173	L>I		No	ClinGen ExAC TOPMed gnomAD
rs201520619 CA187971814	174	D>N		No	ClinGen 1000Genomes gnomAD
rs201520619 CA372798261	174	D>Y		No	ClinGen 1000Genomes gnomAD
CA372798287 rs1199956233	175	G>E		No	ClinGen TOPMed gnomAD
RCV001228034 COSM387954 CA4965487 CA372798277 rs766187569	175	G>R	Variant assessed as Somatic; 4.782e-05 impact. lung [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD ClinVar NCI-TCGA dbSNP
CA372798330 rs1282433030 RCV001035884	177	C>*		No	ClinGen ClinVar TOPMed dbSNP
RCV001092992 rs1819778622	177	C>S		No	ClinVar dbSNP
TCGA novel	177	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4965493 rs144949136	178	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA187971905 RCV001337217 rs200662596	179	R>C		No	ClinGen ClinVar 1000Genomes TOPMed dbSNP
rs767955052 CA4965494	179	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA187971926 rs751709716	180	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs750918937 CA4965495	180	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA187971919 rs751709716	180	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA187971936 rs534069865	181	F>L		No	ClinGen 1000Genomes ExAC gnomAD
CA187971949 rs915176607	181	F>S		No	ClinGen TOPMed
CA4965496 rs534069865	181	F>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1403662737 CA372798398	182	L>P		No	ClinGen TOPMed gnomAD
CA372798406 rs1272477167	183	E>Q		No	ClinGen gnomAD
rs1023410136 CA187971968	184	E>G		No	ClinGen Ensembl
CA187971960 rs1012003891	184	E>Q		No	ClinGen Ensembl
CA4965498 rs780435673	185	L>M		No	ClinGen ExAC TOPMed gnomAD
CA4965497 rs780435673 RCV001203298	185	L>V		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA372798441 rs1323159938	186	G>D		No	ClinGen gnomAD
rs778432513 CA187972019	186	G>R		No	ClinGen ExAC TOPMed gnomAD
CA4965500 rs778432513	186	G>S		No	ClinGen ExAC TOPMed gnomAD
rs771691876 CA4965502	187	Y>H		No	ClinGen ExAC gnomAD
rs772921412 CA4965503	188	W>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1252195949 CA372798453	188	W>*		No	ClinGen TOPMed
CA187972033 rs977790637	188	W>G		No	ClinGen TOPMed
rs1242677661 CA372798459	189	G>D		No	ClinGen gnomAD
CA4965505 rs770819821	189	G>S		No	ClinGen ExAC TOPMed gnomAD
rs759283660 CA4965507	190	V>A		No	ClinGen ExAC gnomAD
CA372798464 rs1186015215	190	V>L		No	ClinGen gnomAD
CA372798463 rs1186015215	190	V>M		No	ClinGen gnomAD
CA372798471 rs1164395600	191	R>L		No	ClinGen TOPMed gnomAD
rs1164395600 CA372798470	191	R>P		No	ClinGen TOPMed gnomAD
rs1164395600 CA372798469	191	R>Q		No	ClinGen TOPMed gnomAD
TCGA novel	191	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1423174083 CA372798472	192	L>I		No	ClinGen gnomAD
rs755140477 CA4965509	192	L>P		No	ClinGen ExAC gnomAD
rs1384318414 CA372798487 RCV001062780	194	Y>C		No	ClinGen ClinVar dbSNP gnomAD
CA4965511 rs373342305	194	Y>D		No	ClinGen ExAC TOPMed gnomAD
CA187972092 rs373342305	194	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA4965512 rs750543416	195	T>M		No	ClinGen ExAC gnomAD
CA372798491 rs1246290521	195	T>P		No	ClinGen TOPMed gnomAD
CA187972115 rs779996918	196	P>A		No	ClinGen gnomAD
CA372798497 rs1299169126	196	P>Q		No	ClinGen TOPMed
CA187972121 rs779996918	196	P>S		No	ClinGen gnomAD
CA372798496 rs779996918	196	P>T		No	ClinGen gnomAD
CA372798500 rs1284617120	197	R>C		No	ClinGen gnomAD
rs754162112 CA372798503	197	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA372798504 rs754162112	197	R>L		No	ClinGen ExAC gnomAD
rs754162112 CA4965515	197	R>P		No	ClinGen ExAC gnomAD
CA4965517 rs779474861	198	C>G		No	ClinGen ExAC TOPMed gnomAD
rs779474861 CA4965518	198	C>R		No	ClinGen ExAC TOPMed gnomAD
COSM1554774 rs779474861 CA372798505	198	C>S	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs767845584 CA4965519	198	C>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4965522 rs770865610	199	C>F		No	ClinGen ExAC TOPMed
rs777392338 CA4965520	199	C>G		No	ClinGen ExAC TOPMed gnomAD
CA4965521 rs777392338 RCV001064065	199	C>R		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs770865610 COSM1461847 CA4965523	199	C>Y	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed
rs1040408269 CA187972171 COSM3699638	200	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
COSM1107970 rs745621260 CA4965524	200	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs745621260 CA187972203	200	R>P		No	ClinGen ExAC TOPMed gnomAD
CA187972214 rs775332723	201	I>L		No	ClinGen ExAC TOPMed gnomAD
rs761992453 CA4965527	201	I>N		No	ClinGen ExAC TOPMed gnomAD
CA372798518 rs761992453	201	I>S		No	ClinGen ExAC TOPMed gnomAD
CA372798519 rs761992453	201	I>T		No	ClinGen ExAC TOPMed gnomAD
CA4965526 rs775332723	201	I>V		No	ClinGen ExAC TOPMed gnomAD
rs760675536 CA372798524	202	C>F		No	ClinGen ExAC TOPMed gnomAD
CA4965529 rs773235461	202	C>G		No	ClinGen ExAC gnomAD
CA372798523 rs760675536	202	C>S		No	ClinGen ExAC TOPMed gnomAD
rs760675536 CA4965530	202	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs766849652 CA4965531	203	F>L		No	ClinGen ExAC TOPMed gnomAD
RCV000901947 CA4965532 rs200983782	204	E>K		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs200983782 CA4965533	204	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753157401 CA4965534	205	E>*		No	ClinGen ExAC gnomAD
CA4965537 rs777604386	205	E>D		No	ClinGen ExAC TOPMed gnomAD
rs753157401 CA4965535	205	E>Q		No	ClinGen ExAC gnomAD
rs377471498 CA187972311	206	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA372798550 rs1242550633	207	R>C		No	ClinGen gnomAD
rs1242550633 CA372798549	207	R>G		No	ClinGen gnomAD
rs769810672 CA372798552	207	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs769810672 CA4965541	207	R>L		No	ClinGen ExAC TOPMed gnomAD
CA187972321 rs907617598 CA372798559	208	D>E		No	ClinGen TOPMed gnomAD
rs1233843071 CA372798557	208	D>G		No	ClinGen TOPMed gnomAD
CA372798553 rs1184204509	208	D>N		No	ClinGen TOPMed gnomAD
rs200148749 CA4965543	209	E>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA372798565 rs1383777570	209	E>D		No	ClinGen gnomAD
rs200148749 CA4965542 RCV001047817	209	E>K		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA372798560 rs200148749	209	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA372798568 rs772215476	210	L>P		No	ClinGen ExAC TOPMed gnomAD
CA4965544 rs772215476	210	L>Q		No	ClinGen ExAC TOPMed gnomAD
rs1206962425 CA372798567	210	L>V		No	ClinGen TOPMed
rs1175089913 CA372798575	211	S>I		No	ClinGen TOPMed gnomAD
rs1175089913 RCV001338477 CA372798573	211	S>N		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA187972343 rs920301311	211	S>R		No	ClinGen TOPMed gnomAD
rs1175089913 CA372798574	211	S>T		No	ClinGen TOPMed gnomAD
CA4965545 rs773434277	212	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs776807664 CA372798585	213	R>L		No	ClinGen ExAC TOPMed gnomAD
CA4965548 rs776807664	213	R>P		No	ClinGen ExAC TOPMed gnomAD
rs776807664 CA4965549	213	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs747313869 CA4965546 RCV001340630	213	R>W		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs576345571 CA4965550 RCV001343219	214	L>F		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs775959822 CA4965551	214	L>P		No	ClinGen ExAC gnomAD
rs576345571 CA187972407	214	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs558295858 CA4965556 RCV001315698	216	I>S		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA4965555 rs558295858 COSM216137	216	I>T	central_nervous_system [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA4965557 rs572091494	217	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA187972469 rs755998410	218	H>D		No	ClinGen ExAC TOPMed gnomAD
rs372007584 CA4965560	218	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4965558 rs755998410	218	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA372798613 rs754754580	219	E>*		No	ClinGen ExAC gnomAD
CA4965562 rs778833627	219	E>G		No	ClinGen ExAC TOPMed gnomAD
CA372798612 rs754754580	219	E>K		No	ClinGen ExAC gnomAD
rs754754580 CA4965561	219	E>Q		No	ClinGen ExAC gnomAD
CA4965563 rs778833627	219	E>V		No	ClinGen ExAC TOPMed gnomAD
CA372798620 rs1199262407	220	L>Q		No	ClinGen gnomAD
RCV001304429 rs373963150 CA4965564	221	R>C	Variant assessed as Somatic; 5.479e-05 impact. [NCI-TCGA]	No	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA372798624 rs1476130174	221	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs776522169 CA4965566	222	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM1461848 rs745988476 CA4965567	222	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA372798642 rs1350461029	223	Q>*		No	ClinGen TOPMed
CA372798647 rs1365922460	223	Q>P		No	ClinGen gnomAD
CA4965569 rs776156112 RCV001229673	224	A>E		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA187972576 rs370332122	224	A>T		No	ClinGen Ensembl
CA4965572 rs74587818	226	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA187972606 rs74587818	226	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1294428392 CA372798699	227	E>A		No	ClinGen TOPMed gnomAD
rs755632260 CA4965575	227	E>D		No	ClinGen ExAC gnomAD
CA4965574 rs749834841	227	E>K		No	ClinGen ExAC TOPMed gnomAD
CA4965576 rs765931716	228	E>A		No	ClinGen ExAC gnomAD
CA372798712 rs1222172850	228	E>K		No	ClinGen gnomAD
rs753769991 CA4965577	229	A>T		No	ClinGen ExAC gnomAD
CA4965578 rs754945632	229	A>V		No	ClinGen ExAC gnomAD
rs1179391128 CA372798734	230	E>K		No	ClinGen gnomAD
CA372798738 rs1179391128	230	E>Q		No	ClinGen gnomAD
CA372798760 rs1385450373	231	E>A		No	ClinGen gnomAD
rs1165035663 CA372798751	231	E>K		No	ClinGen gnomAD
CA372798753 rs1165035663	231	E>Q		No	ClinGen gnomAD
CA4965582 rs375426599	232	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs745887568 CA4965583	232	L>R		No	ClinGen ExAC gnomAD
CA372798779 rs1422108188	233	F>L		No	ClinGen TOPMed
CA372798784 rs1257478211	233	F>S		No	ClinGen TOPMed
rs769985957 CA4965584	234	R>C		No	ClinGen ExAC TOPMed gnomAD
rs369967074 CA4965585	234	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs769985957 CA187972689	234	R>S		No	ClinGen ExAC TOPMed gnomAD
rs371445689 CA372798800	235	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs371445689 CA4965586	235	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs375765488 CA4965588 CA4965587	236	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA239011 rs375765488 RCV000173561	236	M>V		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA187972737 rs962085824	237	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1348397263 CA372798832	237	R>H		No	ClinGen TOPMed
CA372798823 rs962085824	237	R>S		No	ClinGen TOPMed gnomAD
rs574636120 CA372798849	238	F>L		No	ClinGen 1000Genomes ExAC
CA187972744 RCV001226436 rs973199066	239	Y>H		No	ClinGen ClinVar dbSNP gnomAD
CA4965592 rs760387745	240	G>C		No	ClinGen ExAC TOPMed gnomAD
CA4965594 rs759416842	240	G>D		No	ClinGen ExAC TOPMed gnomAD
CA4965591 rs760387745	240	G>R		No	ClinGen ExAC TOPMed gnomAD
CA4965593 rs760387745	240	G>S		No	ClinGen ExAC TOPMed gnomAD
rs765249083 CA4965595	241	P>L		No	ClinGen ExAC TOPMed gnomAD
rs765249083 CA187972784	241	P>Q		No	ClinGen ExAC TOPMed gnomAD
RCV000153396 CA234151 rs727503975	241	P>S		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA372798898 rs1184873721	242	Q>*		No	ClinGen gnomAD
rs1306668241 CA372798909	242	Q>R		No	ClinGen gnomAD
CA187972811 rs143138491	243	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs543649807 CA4965598	244	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1023306854 RCV001048148 CA187972814	244	R>H		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs750673505 CA4965599	245	R>C		No	ClinGen ExAC TOPMed gnomAD
rs756448671 CA4965600	245	R>H		No	ClinGen ExAC TOPMed gnomAD
rs750673505 CA372798951	245	R>S		No	ClinGen ExAC TOPMed gnomAD
rs780258945 CA372798973	246	L>F		No	ClinGen ExAC TOPMed gnomAD
CA372798968 rs780258945	246	L>I		No	ClinGen ExAC TOPMed gnomAD
CA372798980 rs1433071774	246	L>P		No	ClinGen gnomAD
rs780258945 CA4965601	246	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1338764632 CA372798992	247	W>S		No	ClinGen gnomAD
CA4965603 rs769005041	248	N>K		No	ClinGen ExAC gnomAD
rs368923394 CA4965602 RCV001237343	248	N>Y		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA372799027 rs1234585050	249	L>F		No	ClinGen TOPMed
CA372799060 rs1240181986	250	M>I		No	ClinGen gnomAD
rs1563795441 CA372799048	250	M>L		No	ClinGen Ensembl
CA4965604 rs779485812	250	M>T		No	ClinGen ExAC TOPMed gnomAD
CA4965605 rs748659440	251	E>*		No	ClinGen ExAC gnomAD
CA187972856 rs563538395	251	E>D		No	ClinGen 1000Genomes TOPMed gnomAD
CA187972855 rs865812782	251	E>V		No	ClinGen gnomAD
CA4965606 rs772479912	252	K>Q		No	ClinGen ExAC gnomAD
RCV001338374 rs1819788466	253	P>A		No	ClinVar dbSNP
RCV001307018 rs760295753 CA4965608	253	P>L		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA372799120 rs760295753	253	P>R		No	ClinGen ExAC gnomAD
CA372799136 rs1419492836	254	F>L		No	ClinGen gnomAD
rs899801446 CA187972889	255	S>F		No	ClinGen Ensembl
rs104894116 CA4965612	256	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4965613 rs752669658	257	V>M		No	ClinGen ExAC TOPMed gnomAD
rs762870229 CA4965615	258	A>T		No	ClinGen ExAC
CA372799240 rs1301366734 RCV001315822	258	A>V		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA372799269 rs1392404765	259	A>D		No	ClinGen TOPMed gnomAD
CA372799268 rs1392404765	259	A>G		No	ClinGen TOPMed gnomAD
CA4965618 rs139027297 RCV000255665	260	K>*		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA4965619 rs139027297	260	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs753904404 CA4965620	261	A>T		No	ClinGen ExAC gnomAD
CA372799331 rs758877052	262	I>S		No	ClinGen ExAC gnomAD
CA4965624 rs758877052	262	I>T		No	ClinGen ExAC gnomAD
rs143012910 CA4965623	262	I>V		No	ClinGen ESP ExAC gnomAD
rs1249262032 CA372799348	263	G>A		No	ClinGen gnomAD
CA4965626 rs747401501	263	G>R		No	ClinGen ExAC gnomAD
rs1453487106 CA372799359	264	V>L		No	ClinGen TOPMed
CA372799408 rs1200000834	265	A>V		No	ClinGen TOPMed gnomAD
CA372799459 rs1586687305	268	T>I		No	ClinGen Ensembl
CA372799480 rs373932533	269	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA4965630 rs774907955	269	F>S		No	ClinGen ExAC gnomAD
rs138231426 CA187972968	269	F>V		No	ClinGen ESP TOPMed gnomAD
CA4965633 rs774250227	270	V>A		No	ClinGen ExAC TOPMed gnomAD
rs764150150 CA4965632	270	V>M		No	ClinGen ExAC gnomAD
CA372799497 rs1284525833	271	L>V		No	ClinGen gnomAD
rs1011858464 CA187973006	272	V>I		No	ClinGen TOPMed gnomAD
CA4965634 rs761705988	273	S>F		No	ClinGen ExAC TOPMed gnomAD
CA187973039 rs370443689	275	V>A		No	ClinGen Ensembl
CA187973031 rs962948174	275	V>L		No	ClinGen TOPMed
rs199923365 CA4965640	276	A>E		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs765337150 CA4965638	276	A>P		No	ClinGen ExAC gnomAD
rs765337150 CA372799571	276	A>T		No	ClinGen ExAC gnomAD
CA4965639 RCV001326588 rs199923365	276	A>V		No	ClinGen ClinVar 1000Genomes ESP ExAC dbSNP gnomAD
rs1195065686 CA372799579	277	L>V		No	ClinGen TOPMed
rs747313664 CA4965642	278	A>T		No	ClinGen ExAC TOPMed gnomAD
rs140144634 CA4965643	278	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1193815401 CA372799600	279	L>F		No	ClinGen TOPMed
rs781606821 CA4965644	282	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
rs745506598 CA4965645	283	E>Q		No	ClinGen ExAC gnomAD
CA4965646 rs775016048	284	E>K		No	ClinGen ExAC TOPMed gnomAD
CA4965648 rs768649666 RCV001038037	285	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinVar dbSNP ClinGen ExAC NCI-TCGA gnomAD
rs774446358 CA4965649	286	Q>*		No	ClinGen ExAC gnomAD
rs761906313 CA4965650	287	Q>*		No	ClinGen ExAC gnomAD
RCV001068562 rs758877996	289	S>missing		No	ClinVar dbSNP
CA4965654 rs569992163 RCV001236625	289	S>*		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA4965655 rs569992163 RCV001235119	289	S>L		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA4965651 rs1225098529	289	S>P		No	ClinGen gnomAD
RCV001339047 rs569992163 CA4965653	289	S>W		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA372799754 rs1246524378	290	G>A		No	ClinGen TOPMed gnomAD
CA372799752 rs1246524378	290	G>E		No	ClinGen TOPMed gnomAD
rs139044338 CA187973139	291	Q>H		No	ClinGen ESP TOPMed gnomAD
rs758417708 CA4965658	291	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA372799764 rs758417708 RCV001320053	291	Q>P		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs752059245 RCV001344297 CA4965660	292	G>D		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs142521710 CA4965659 RCV001323265	292	G>S		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA372799790 rs1266411617 COSM240316	293	E>K	prostate [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs150947832 CA4965662	294	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA372799806 rs1490064746	294	G>R		No	ClinGen TOPMed gnomAD
rs1490064746 CA372799805	294	G>S		No	ClinGen TOPMed gnomAD
CA4965665 rs755751408	295	G>C		No	ClinGen ExAC TOPMed gnomAD
CA4965664 rs755751408	295	G>S		No	ClinGen ExAC TOPMed gnomAD
CA372799837 rs1413463889 RCV001340261	295	G>V		No	ClinGen ClinVar dbSNP gnomAD
rs947385331 CA372799847	296	P>L		No	ClinGen TOPMed gnomAD
CA187973211 rs947385331	296	P>R		No	ClinGen TOPMed gnomAD
CA4965667 rs768276080	296	P>S		No	ClinGen ExAC TOPMed gnomAD
CA4965668 rs778605215	297	D>H		No	ClinGen ExAC gnomAD
CA4965670 rs772157831	299	R>Q		No	ClinGen ExAC gnomAD
CA372799881 rs1452834739	299	R>W		No	ClinGen gnomAD
CA4965671 rs773016278	300	P>A		No	ClinGen ExAC TOPMed gnomAD
rs760387623 CA4965672	300	P>L		No	ClinGen ExAC gnomAD
rs773016278 CA372799889	300	P>S		No	ClinGen ExAC TOPMed gnomAD
CA187973237 rs773016278	300	P>T		No	ClinGen ExAC TOPMed gnomAD
rs779696666 CA187973253	302	L>P		No	ClinGen TOPMed
rs775558767 CA4965674	303	E>A		No	ClinGen ExAC TOPMed gnomAD
rs775558767 CA372799947	303	E>G		No	ClinGen ExAC TOPMed gnomAD
CA372799940 RCV001321407 rs1266256987	303	E>Q		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA4965676 rs764131102	304	H>Y		No	ClinGen ExAC gnomAD
rs371248089 CA4965679	305	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs371248089 RCV001068845 CA4965678	305	V>M		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	306	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4965681 rs104894114	306	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs104894114 CA372800006	306	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA4965684 rs773605970 RCV001226708	307	M>I		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA187973358 rs201074293	307	M>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
RCV000885200 CA4965683 RCV000442010 rs201074293	307	M>R		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs780527452 CA4965682	307	M>V		No	ClinGen ExAC TOPMed gnomAD
CA4965686 rs747692514	308	L>P		No	ClinGen ExAC TOPMed gnomAD
rs778517150 CA4965685	308	L>V		No	ClinGen ExAC gnomAD
rs772063937 CA4965687	309	C>G		No	ClinGen ExAC gnomAD
CA4965688 rs200556800	309	C>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1004868073 RCV001056891 CA187973423	310	M>I		No	ClinGen ClinVar Ensembl dbSNP
CA372800108 rs747021960	310	M>K		No	ClinGen ExAC TOPMed gnomAD
rs747021960 CA4965689	310	M>R		No	ClinGen ExAC TOPMed gnomAD
rs747021960 CA187973421	310	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1226448211 CA372800091	310	M>V		No	ClinGen gnomAD
CA187973431 rs1015880443	311	G>A		No	ClinGen gnomAD
TCGA novel	311	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372800143 RCV001068880 rs1015880443	311	G>D		No	ClinGen ClinVar dbSNP gnomAD
CA187973452 rs763427926	313	F>V		No	ClinGen Ensembl
CA4965693 rs543611672	314	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA
CA372800210 rs1477681899	315	L>I		No	ClinGen Ensembl
CA187973477 rs147822789	316	E>D		No	ClinGen ESP
CA372800277 rs1432037634 CA372800274	317	Y>*		No	ClinGen gnomAD
CA372800269 rs1180596444	317	Y>F		No	ClinGen gnomAD
rs1271275954 CA372800281	318	L>M		No	ClinGen TOPMed
CA4965699 rs761283518	319	L>Q		No	ClinGen ExAC gnomAD
rs1369674746 CA372800321	320	R>P		No	ClinGen gnomAD
rs754637111 CA4965701	321	L>I		No	ClinGen ExAC gnomAD
rs777405471 CA372801106	322	A>D		No	ClinGen ExAC TOPMed gnomAD
CA4965703 rs372668634	322	A>P		No	ClinGen ESP ExAC gnomAD
CA4965704 rs372668634	322	A>T		No	ClinGen ESP ExAC gnomAD
RCV001222608 rs777405471 CA4965705	322	A>V		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1234140054 CA372801122	323	S>C		No	ClinGen TOPMed gnomAD
CA372801124 rs1234140054	323	S>F		No	ClinGen TOPMed gnomAD
CA4965706 rs376858051	324	T>K		No	ClinGen ESP ExAC gnomAD
TCGA novel	324	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs980513372 CA187973510	324	T>S		No	ClinGen Ensembl
CA4965708 rs780804898	325	P>H		No	ClinGen ExAC gnomAD
CA4965707 rs757270560	325	P>S		No	ClinGen ExAC TOPMed gnomAD
CA372801139 rs757270560	325	P>T		No	ClinGen ExAC TOPMed gnomAD
rs745697896 CA4965709	326	D>N		No	ClinGen ExAC TOPMed gnomAD
rs745697896 CA372801156	326	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs774569926 CA4965712	328	R>S		No	ClinGen ExAC gnomAD
rs1197568554 CA372801208	329	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA4965713 rs772042385 COSM377759	330	F>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs777069016 CA372801241	331	A>E		No	ClinGen ExAC TOPMed gnomAD
CA4965716 rs545829113	331	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA4965717 rs777069016	331	A>V		No	ClinGen ExAC TOPMed gnomAD
rs527647651 COSM3952645 CA4965718	332	R>C	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
RCV001312848 rs765751812 CA372801254	332	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs765751812 CA4965719	332	R>L		No	ClinGen ExAC TOPMed gnomAD
CA372801250 rs527647651	332	R>S		No	ClinGen 1000Genomes ExAC gnomAD
rs752390776 CA4965720	333	S>N		No	ClinGen ExAC gnomAD
CA372801279 rs1329374024	334	A>T		No	ClinGen gnomAD
RCV001244079 rs758106979 CA4965721	334	A>V		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA187973645 rs979304433	335	L>F		No	ClinGen Ensembl
CA372801313 rs1563795894	336	N>D		No	ClinGen Ensembl
rs1586687559 CA372801321	336	N>T		No	ClinGen Ensembl
rs751106123 CA372801334	337	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1819799162 RCV001204544	338	V>M		No	ClinVar dbSNP
rs1243467800 CA372801379	339	D>E		No	ClinGen gnomAD
rs781116632 CA4965726	339	D>N		No	ClinGen ExAC gnomAD
CA4965729 rs779892023	341	V>L		No	ClinGen ExAC TOPMed gnomAD
rs779892023 CA372801398	341	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1447216340 CA372801417	342	A>S		No	ClinGen TOPMed gnomAD
rs1368778786 CA372801438	343	I>T		No	ClinGen gnomAD
RCV001092993 rs1819800386	344	L>M		No	ClinVar dbSNP
CA187973692 rs1051219107	344	L>P		No	ClinGen gnomAD
rs773122223 RCV001228625 CA4965732 COSM3699639	345	P>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD
CA372801458 rs1402579835	345	P>S		No	ClinGen gnomAD
CA4965737 rs530163400	347	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA372801482 rs760186581	347	Y>H		No	ClinGen ExAC gnomAD
rs760186581 CA4965736	347	Y>N		No	ClinGen ExAC gnomAD
rs530163400 CA4965738	347	Y>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA372801499 rs1264261480	348	L>I		No	ClinGen gnomAD
rs201425989 CA372801507	348	L>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4965743 rs761404248	349	Q>H		No	ClinGen ExAC gnomAD
RCV001208819 rs1819801593	350	L>R		No	ClinVar dbSNP
rs1044937878 CA187973788	352	L>F		No	ClinGen TOPMed gnomAD
rs1485858602 CA372801569	352	L>P		No	ClinGen TOPMed
rs369069912 CA4965746	353	E>*		No	ClinGen ESP ExAC gnomAD
CA372801578 rs1185121868	353	E>G		No	ClinGen gnomAD
COSM673734 rs369069912 CA4965745	353	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD
rs369069912 CA372801573	353	E>Q		No	ClinGen ESP ExAC gnomAD
rs1586687616 CA372801593	354	C>G		No	ClinGen Ensembl
CA372801601 rs1160033568	354	C>W		No	ClinGen gnomAD
CA372801595 rs1457653899	354	C>Y		No	ClinGen gnomAD
rs747253127 CA4965750	355	F>L		No	ClinGen ExAC gnomAD
rs1234497359 CA372801610	355	F>S		No	ClinGen TOPMed
rs75645675 CA4965749	355	F>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA372801619 rs1036473671	356	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA187973802 rs1036473671	356	T>R		No	ClinGen TOPMed gnomAD
CA4965753 rs746352514	357	G>C		No	ClinGen ExAC TOPMed gnomAD
CA372801622 rs746352514	357	G>S		No	ClinGen ExAC TOPMed gnomAD
CA372801654 rs1229495796 RCV001230707	358	E>D		No	ClinGen ClinVar dbSNP gnomAD
rs374211938 RCV001207495 CA187973843	358	E>K		No	ClinGen ClinVar ESP TOPMed dbSNP gnomAD
rs1412724786 CA372801660	359	G>S		No	ClinGen TOPMed
rs768136198 CA4965757	361	Q>*		No	ClinGen ExAC gnomAD
CA187973863 rs1030493328	361	Q>L		No	ClinGen TOPMed
rs761443523 CA4965758	362	R>C		No	ClinGen ExAC gnomAD
RCV001325006 CA4965759 rs766985581	362	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
rs1188758725 CA372801763	363	G>A		No	ClinGen TOPMed
rs1188758725 COSM3699300 CA372801762	363	G>D	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA4965761 rs566426805	363	G>R		No	ClinGen ExAC TOPMed gnomAD
CA187973916 COSM1569306 rs566426805	363	G>S	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs200266207 CA4965762	364	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs547033951 COSM1107972 CA187973927	365	T>M	Variant assessed as Somatic; 0.0 impact. liver endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs1409634213 CA372801826	366	V>L		No	ClinGen gnomAD
rs377129306 CA4965764	367	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA187973947 rs1001901052	368	S>C		No	ClinGen Ensembl
rs778638987 CA372801889	369	V>L		No	ClinGen ExAC gnomAD
CA4965765 rs778638987	369	V>M		No	ClinGen ExAC gnomAD
CA372801908 rs1307515949	370	G>C		No	ClinGen TOPMed
rs534563578 CA4965766	370	G>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1307515949 RCV001338707	370	G>R		No	ClinVar dbSNP
rs1410786911 CA372801920	371	K>E		No	ClinGen TOPMed gnomAD
CA372801945 rs1308012689	371	K>N		No	ClinGen gnomAD
CA372801917 rs1410786911	371	K>Q		No	ClinGen TOPMed gnomAD
CA372801957 rs1349157035	372	V>L		No	ClinGen TOPMed gnomAD
CA372801949 rs1349157035	372	V>M		No	ClinGen TOPMed gnomAD
CA372801994 RCV001207555 rs1313318182	374	Q>E		No	ClinGen ClinVar TOPMed dbSNP
rs781374665 CA4965768	374	Q>P		No	ClinGen ExAC gnomAD
rs568147806 CA372802021	375	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs780625453 CA4965772	376	L>F		No	ClinGen ExAC gnomAD
RCV001209286 rs1819805245	376	L>M		No	ClinVar dbSNP
CA4965774 rs143664586	377	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA gnomAD
CA4965775 rs143664586	377	R>G		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA4965776 rs771741178	377	R>H		No	ClinGen ExAC TOPMed gnomAD
CA372802065 rs771741178	377	R>L		No	ClinGen ExAC TOPMed gnomAD
CA372802062 rs771741178	377	R>P		No	ClinGen ExAC TOPMed gnomAD
rs143664586 CA4965773	377	R>S		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs752928296 CA4965778	378	V>F		No	ClinGen TOPMed
CA187974014 rs752928296	378	V>I		No	ClinGen TOPMed
CA4965779 rs752928296	378	V>L		No	ClinGen TOPMed
rs1819805927 RCV001235075	379	M>I		No	ClinVar dbSNP
CA372802085 rs370412027	379	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA372802093 rs1268085130	379	M>T		No	ClinGen gnomAD
CA4965782 rs370412027	379	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA372802109 rs1214477952	380	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs765927725 CA4965784	380	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
CA4965785 rs765927725	380	R>P		No	ClinGen ExAC TOPMed
rs148096197 CA4965789	381	L>F		No	ClinGen ESP ExAC TOPMed
rs148096197 CA4965787	381	L>V		No	ClinGen ESP ExAC TOPMed
rs200018497 CA4965791	382	M>T		No	ClinGen 1000Genomes ExAC gnomAD
RCV001206808 rs757516625	382	M>V		No	ClinVar dbSNP
rs1430861700 CA372802171	383	R>C		No	ClinGen TOPMed gnomAD
rs141881396 CA4965793	383	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA372802197 rs1439165869	384	I>N		No	ClinGen TOPMed gnomAD
CA372802194 rs1439165869	384	I>S		No	ClinGen TOPMed gnomAD
rs1366341886 CA372802222	385	F>C		No	ClinGen gnomAD
rs1390974968 CA372802209	385	F>I		No	ClinGen TOPMed
CA372802219 rs1366341886	385	F>S		No	ClinGen gnomAD
CA4965795 rs749775089	386	R>C		No	ClinGen ExAC TOPMed gnomAD
rs776176542 CA4965796	386	R>H		No	ClinGen ExAC TOPMed gnomAD
rs776176542 CA187974099	386	R>L		No	ClinGen ExAC TOPMed gnomAD
CA372802252 rs1342429625	387	I>V		No	ClinGen TOPMed gnomAD
rs748514014 CA4965798	388	L>V		No	ClinGen ExAC gnomAD
rs150231850 CA372802300	389	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
RCV001339663 rs150231850 CA4965800	389	K>T		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1488223894 CA372802306	390	L>V		No	ClinGen TOPMed gnomAD
TCGA novel	391	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA187974115 rs921097273	391	A>V		No	ClinGen Ensembl
RCV001040116 CA4965802 rs770442556	392	R>C	Variant assessed as Somatic; 0.0001123 impact. [NCI-TCGA]	No	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
CA4965803 rs147385726	392	R>H		No	ClinGen 1000Genomes ExAC gnomAD
CA4965804 rs202139237	393	H>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4965805 rs765119911	393	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs775290203 CA4965806	394	S>P		No	ClinGen ExAC gnomAD
CA187974154 rs201033142	395	T>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1321896522 CA372802364	395	T>I		No	ClinGen gnomAD
CA4965808 rs201033142	395	T>P		No	ClinGen 1000Genomes ExAC gnomAD
rs138924201 RCV001058229 CA4965811	396	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA372802381 rs1295165987	397	L>R		No	ClinGen gnomAD
CA4965814 rs779297718	398	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs748708161 CA4965815	398	R>P		No	ClinGen ExAC gnomAD
CA372802386 rs779297718	398	R>S		No	ClinGen ExAC gnomAD
rs200444639 CA4965817	399	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200444639 CA4965816	399	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4965820 rs746641535 COSM43019	401	G>S	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
RCV001348929 rs745375996 CA4965823	403	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1819808781 RCV001268025	404	L>P		No	ClinVar dbSNP
CA372802459 rs1334682316	404	L>V		No	ClinGen TOPMed gnomAD
CA4965825 rs775556815	405	R>C		No	ClinGen ExAC gnomAD
rs1413709911 CA372802472	405	R>H		No	ClinGen gnomAD
CA372802475 rs1413709911	405	R>L		No	ClinGen gnomAD
rs763052137 CA4965826	406	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA4965828 rs774340434	406	Q>H		No	ClinGen ExAC gnomAD
rs768545361 CA4965827	406	Q>L		No	ClinGen ExAC gnomAD
CA372802483 rs768545361	406	Q>P		No	ClinGen ExAC gnomAD
rs760904700 CA372802525	409	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA372802529 rs1360523581	409	Q>H		No	ClinGen gnomAD
rs760904700 CA4965829	409	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA4965831 rs199497822	409	Q>P		No	ClinGen 1000Genomes ExAC gnomAD
RCV001234519 rs199497822 CA4965830	409	Q>R		No	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
CA372802535 rs1158399433	410	Q>H		No	ClinGen TOPMed
CA372802530 rs1448564402	410	Q>K		No	ClinGen gnomAD
rs574582499 RCV001305566 CA4965832	410	Q>P		No	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
rs1586687813 CA372802540	411	V>G		No	ClinGen Ensembl
CA372802545 rs1288879384	412	G>D		No	ClinGen gnomAD
rs753171063 CA4965834	412	G>S		No	ClinGen ExAC gnomAD
rs1282504379 CA372802561	415	L>M		No	ClinGen gnomAD
rs1586687818 CA372802564	415	L>P		No	ClinGen Ensembl
rs1444275335 CA372802569 RCV001347528	416	L>P		No	ClinGen ClinVar dbSNP gnomAD
CA187974304 rs960007958	417	F>Y		No	ClinGen TOPMed
rs1445272716 CA372802580	418	I>V		No	ClinGen TOPMed
rs543556674 CA4965839	419	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4965838 rs111792867	419	A>T		No	ClinGen ExAC gnomAD
rs543556674 CA372802589	419	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA187974314 rs563513486 RCV000730957	421	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD
CA4965842 rs779755195	422	I>M		No	ClinGen ExAC TOPMed gnomAD
RCV001060440 rs769184629 CA4965841	422	I>T		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
TCGA novel	423	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs563806792 CA4965844	425	F>L		No	ClinGen 1000Genomes ExAC gnomAD
CA4965843 rs749220459	425	F>S		No	ClinGen ExAC gnomAD
CA187974333 rs201361335	427	A>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	427	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4965845 rs201361335	427	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs142146344 RCV001219366 CA4965846	428	A>T		No	ClinGen ClinVar ESP ExAC dbSNP gnomAD
CA187974347 rs906005731	429	V>I		No	ClinGen Ensembl
CA586168532 rs1563796273	430	Y>*		No	ClinGen Ensembl
CA4965847 rs771957198	430	Y>*		No	ClinGen ExAC gnomAD
CA372802651 rs1563796271	430	Y>H		No	ClinGen Ensembl
rs1263130681 CA372802661	431	S>F		No	ClinGen gnomAD
rs1318199256 RCV001068561	432	V>missing		No	ClinVar dbSNP
CA187974348 rs373961607	432	V>M		No	ClinGen ESP TOPMed
rs759838750 CA372802673	433	E>D		No	ClinGen ExAC TOPMed gnomAD
CA372802668 rs1347428321	433	E>Q		No	ClinGen gnomAD
rs376306786 CA372802683	435	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4965851 rs376306786 RCV001043942	435	D>N		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs376306786 CA4965852	435	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA372802700 rs1253249679	437	P>L		No	ClinGen gnomAD
rs1020602079 CA372802713	439	T>I		No	ClinGen TOPMed
rs1020602079 CA187974373	439	T>S		No	ClinGen TOPMed
RCV001053432 CA372802716 rs764587081	440	N>S		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs764587081 CA4965854	440	N>T		No	ClinGen ExAC gnomAD
rs1000777419 CA187974375	440	N>Y		No	ClinGen TOPMed gnomAD
rs751864649 CA4965855	441	F>L		No	ClinGen ExAC gnomAD
rs757550503 CA4965856	442	T>I		No	ClinGen ExAC TOPMed gnomAD
rs750012815 CA4965858	443	T>I		No	ClinGen ExAC TOPMed gnomAD
CA372802745 rs1221044669	445	P>A		No	ClinGen TOPMed
rs755848294 CA187974444	446	H>D		No	ClinGen ExAC gnomAD
rs755848294 CA4965859 COSM373360	446	H>N	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA187974460 rs538237334	446	H>Q		No	ClinGen gnomAD
rs1563796333	446	H>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA4965862 rs143382624	448	W>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs748841744 CA4965861	448	W>L		No	ClinGen ExAC gnomAD
CA4965864 rs748180390	450	W>G		No	ClinGen ExAC TOPMed gnomAD
rs1311507108 CA372802779	450	W>S		No	ClinGen TOPMed
rs773104305 CA372802787	451	A>D		No	ClinGen ExAC TOPMed gnomAD
RCV001039156 CA4965865 rs370789466	451	A>S		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs370789466 CA372802784	451	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA4965866 rs773104305	451	A>V		No	ClinGen ExAC TOPMed gnomAD
RCV001046165 CA4965868 rs770032221 COSM1107980	452	A>T	Variant assessed as Somatic; 5.718e-05 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD
CA372803295 rs1228455259	454	S>N		No	ClinGen gnomAD
RCV001300447 rs374737276	458	V>L		No	ClinVar dbSNP
CA4965903 rs374737276	458	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA372803324 rs1256529152	459	G>C		No	ClinGen gnomAD
rs367634793 CA372803335	460	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA4965906 rs149648640	461	G>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1451835643 CA372803353	463	M>I		No	ClinGen gnomAD
rs749491193 CA4965908	463	M>L		No	ClinGen ExAC gnomAD
CA4965909 rs773096508	463	M>T		No	ClinGen ExAC gnomAD
CA4965910 rs778822772	464	Y>C		No	ClinGen ExAC gnomAD
rs1395788416 CA372803367	465	P>L		No	ClinGen gnomAD
rs772403756 CA4965912	465	P>T		No	ClinGen ExAC gnomAD
CA4965913 rs773762641	466	E>D		No	ClinGen ExAC gnomAD
CA187989976 rs761824334	467	T>I		No	ClinGen Ensembl
TCGA novel	467	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA187989986 rs372176253 CA187989984	468	H>Q		No	ClinGen ESP TOPMed
CA4965914 rs761301300	468	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1291891848 CA372803388	469	L>P		No	ClinGen TOPMed
rs777154728 RCV001341363 CA4965916	470	G>D		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA4965917 rs759223428	471	R>M		No	ClinGen ExAC gnomAD
CA372803413 rs1256190004	473	F>C		No	ClinGen gnomAD
TCGA novel	473	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4965919 rs546451765	474	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA372803428 rs1253896643	475	F>L		No	ClinGen gnomAD
rs796658305 CA187990087	476	L>R		No	ClinGen Ensembl
CA372803438 rs1294673853	477	C>S		No	ClinGen TOPMed
rs964924713 CA372803443	478	I>L		No	ClinGen TOPMed
rs964924713 CA187990096	478	I>V		No	ClinGen TOPMed
CA4965921 rs369942348	479	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs763579682 CA4965922	480	F>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	480	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372803463 rs1249859757	481	G>E		No	ClinGen gnomAD
CA4965923 rs751469554	484	L>V		No	ClinGen ExAC gnomAD
CA372803496 rs1378412539	486	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
COSM177734 CA372803493 rs1163967361	486	G>R	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1418893432 CA372803507	487	M>I		No	ClinGen TOPMed
RCV001227811 CA372803500 rs1461711190	487	M>V		No	ClinGen ClinVar TOPMed dbSNP
rs780916608 CA4965925	488	P>H		No	ClinGen ExAC gnomAD
rs1190265463 CA372803517	489	I>N		No	ClinGen TOPMed
CA4965927 rs755091416	490	S>C		No	ClinGen ExAC TOPMed gnomAD
CA187990136 rs765182129	491	I>N		No	ClinGen gnomAD
CA4965928 rs530400836	491	I>V		No	ClinGen ExAC gnomAD
CA4965929 rs748379690	492	L>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs566673245 CA4965931	494	N>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA372803556 rs1276455141	495	K>N		No	ClinGen gnomAD
TCGA novel	497	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1342823462 CA372803573	498	D>N		No	ClinGen gnomAD
CA372803581 rs1563800820	499	Y>H		No	ClinGen Ensembl
CA372803595 rs1479733252	500	Y>*		No	ClinGen gnomAD
CA372803593 rs1249523131	500	Y>F		No	ClinGen gnomAD
rs1820030325 RCV001231899	501	S>missing		No	ClinVar dbSNP
CA372803599 rs1192986140	501	S>N		No	ClinGen TOPMed gnomAD
CA4965933 rs192224431	505	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA372803650 rs1554629777	508	Y>C		No	ClinGen Ensembl
RCV001326127 rs140745549 CA4965935	509	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA4965936 rs770113041	509	T>I		No	ClinGen ExAC gnomAD
COSM2771655 CA4965937 RCV001339298 rs537588654	512	R>C	pancreas [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA4965938 rs371862412	512	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA372803674 rs371862412	512	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA372803671 rs537588654	512	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	513	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763639610 CA4965939	514	E>G		No	ClinGen ExAC gnomAD
CA372803682 rs1293548113	514	E>K		No	ClinGen gnomAD
CA372803694 rs1325098222	515	R>S		No	ClinGen TOPMed
rs1368710020 CA372803692	515	R>T		No	ClinGen TOPMed
rs907282459 CA187990239	516	G>R		No	ClinGen TOPMed
CA372803707 rs1299317195	517	E>D		No	ClinGen gnomAD
CA372803706 rs1438214597	517	E>G		No	ClinGen TOPMed gnomAD
TCGA novel	518	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs999348505 CA187990268	520	F>L		No	ClinGen Ensembl
rs982984389 CA187990292	521	M>I		No	ClinGen TOPMed
CA4965941 rs761702254	521	M>V		No	ClinGen ExAC gnomAD
rs1323360792 CA372803740	522	Q>P		No	ClinGen gnomAD
RCV001060476 CA187990298 rs369794013	523	R>T		No	ClinGen ClinVar ESP TOPMed dbSNP gnomAD
COSM161871 CA372803751 rs1471161378	524	A>T	kidney NS Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs557493684 RCV001339061 CA4965943	524	A>V		No	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
CA372803760 rs1251716422	525	R>T		No	ClinGen TOPMed
rs1212096728 CA372803764	526	K>E		No	ClinGen gnomAD
TCGA novel	526	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1053016624 RCV001339788 CA187990314	527	K>N		No	ClinGen ClinVar TOPMed dbSNP
CA4965944 rs750165805	527	K>R		No	ClinGen ExAC TOPMed gnomAD
CA4965945 rs755927542	528	I>T		No	ClinGen ExAC gnomAD
rs908823622 CA187990322	530	E>G		No	ClinGen TOPMed gnomAD
CA187990321 rs765853870	530	E>Q		No	ClinGen Ensembl
rs1164901604 CA372803805	532	L>*		No	ClinGen gnomAD
CA372803806 rs1164901604	532	L>S		No	ClinGen gnomAD
rs1459396838 CA372803813	533	L>P		No	ClinGen gnomAD
TCGA novel	536	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs553609191 CA4965950	536	N>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs200484374 CA4965953	537	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA372803835 rs757778905	537	P>T		No	ClinGen ExAC gnomAD
CA4965954 rs561576420	538	Q>*		No	ClinGen 1000Genomes ExAC gnomAD
CA4965955 rs561576420	538	Q>K		No	ClinGen 1000Genomes ExAC gnomAD
CA187990390 rs543865855	541	P>Q		No	ClinGen 1000Genomes gnomAD
RCV001298143 rs543865855	541	P>R		No	ClinVar dbSNP
rs1820036201 RCV001313989	541	P>S		No	ClinVar dbSNP
rs1053887975 CA187990396	542	R>K		No	ClinGen TOPMed gnomAD
CA372803880 rs1429691434 COSM2771659	544	E>D	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs768225982 CA4965958	544	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1465469369 CA372803896	546	N>Y		No	ClinGen TOPMed gnomAD

1 associated diseases with Q8TDN2

[MIM: 610356]: Cone dystrophy retinal 3B (RCD3B)

A rare form of cone dystrophy associated with supernormal rod responses. The disorder is characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision. At an early age, the retina shows subtle depigmentation at the macula and, later, more obvious areas of atrophy. {ECO:0000269|PubMed:16909397}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A rare form of cone dystrophy associated with supernormal rod responses. The disorder is characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision. At an early age, the retina shows subtle depigmentation at the macula and, later, more obvious areas of atrophy. {ECO:0000269|PubMed:16909397}. Note=The disease is caused by variants affecting the gene represented in this entry.

2 regional properties for Q8TDN2

Type	Name	Position	InterPro Accession
domain	Potassium channel tetramerisation-type BTB domain	99 - 193	IPR003131
domain	Ion transport domain	268 - 502	IPR005821

Functions

		Description
EC Number
Subcellular Localization	Cell membrane; Multi-pass membrane protein	Has to be associated with KCNB1 or possibly another partner to get inserted in the plasma membrane Remains intracellular in the absence of KCNB1
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.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
voltage-gated potassium channel complex	A protein complex that forms a transmembrane channel through which potassium ions may cross a cell membrane in response to changes in membrane potential.

1 GO annotations of molecular function

Name	Definition
voltage-gated potassium channel activity	Enables the transmembrane transfer of a potassium ion by a voltage-gated channel. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded.

3 GO annotations of biological process

Name	Definition
potassium ion transmembrane transport	A process in which a potassium ion is transported from one side of a membrane to the other.
protein homooligomerization	The process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of identical component monomers. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer.
regulation of ion transmembrane transport	Any process that modulates the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other.

22 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q4ZHA6	KCNB2	Potassium voltage-gated channel subfamily B member 2	Bos taurus (Bovine)	PR
P17972	Shaw	Potassium voltage-gated channel protein Shaw	Drosophila melanogaster (Fruit fly)	PR
Q14721	KCNB1	Potassium voltage-gated channel subfamily B member 1	Homo sapiens (Human)	PR
Q92953	KCNB2	Potassium voltage-gated channel subfamily B member 2	Homo sapiens (Human)	PR
Q9H3M0	KCNF1	Potassium voltage-gated channel subfamily F member 1	Homo sapiens (Human)	PR
Q9ULS6	KCNS2	Potassium voltage-gated channel subfamily S member 2	Homo sapiens (Human)	PR
Q96RP8	KCNA7	Potassium voltage-gated channel subfamily A member 7	Homo sapiens (Human)	PR
P22459	KCNA4	Potassium voltage-gated channel subfamily A member 4	Homo sapiens (Human)	PR
P22001	KCNA3	Potassium voltage-gated channel subfamily A member 3	Homo sapiens (Human)	PR
Q16322	KCNA10	Potassium voltage-gated channel subfamily A member 10	Homo sapiens (Human)	PR
Q09470	KCNA1	Potassium voltage-gated channel subfamily A member 1	Homo sapiens (Human)	PR
P16389	KCNA2	Potassium voltage-gated channel subfamily A member 2	Homo sapiens (Human)	PR
Q9UK17	KCND3	Potassium voltage-gated channel subfamily D member 3	Homo sapiens (Human)	PR
Q03721	KCNC4	Potassium voltage-gated channel subfamily C member 4	Homo sapiens (Human)	PR
Q80XM3	Kcng4	Potassium voltage-gated channel subfamily G member 4	Mus musculus (Mouse)	PR
Q03717	Kcnb1	Potassium voltage-gated channel subfamily B member 1	Mus musculus (Mouse)	PR
O35174	Kcns2	Potassium voltage-gated channel subfamily S member 2	Mus musculus (Mouse)	PR
A6H8H5	Kcnb2	Potassium voltage-gated channel subfamily B member 2	Mus musculus (Mouse)	PR
Q7TSH7	Kcnf1	Potassium voltage-gated channel subfamily F member 1	Mus musculus (Mouse)	PR
O18868	KCNB1	Potassium voltage-gated channel subfamily B member 1	Sus scrofa (Pig)	PR
Q9ER26	Kcns2	Potassium voltage-gated channel subfamily S member 2	Rattus norvegicus (Rat)	PR
P15387	Kcnb1	Potassium voltage-gated channel subfamily B member 1	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MLKQSERRRS	WSYRPWNTTE	NEGSQHRRSI	CSLGARSGSQ	ASIHGWTEGN	YNYYIEEDED
70	80	90	100	110	120
GEEEDQWKDD	LAEEDQQAGE	VTTAKPEGPS	DPPALLSTLN	VNVGGHSYQL	DYCELAGFPK
130	140	150	160	170	180
TRLGRLATST	SRSRQLSLCD	DYEEQTDEYF	FDRDPAVFQL	VYNFYLSGVL	LVLDGLCPRR
190	200	210	220	230	240
FLEELGYWGV	RLKYTPRCCR	ICFEERRDEL	SERLKIQHEL	RAQAQVEEAE	ELFRDMRFYG
250	260	270	280	290	300
PQRRRLWNLM	EKPFSSVAAK	AIGVASSTFV	LVSVVALALN	TVEEMQQHSG	QGEGGPDLRP
310	320	330	340	350	360
ILEHVEMLCM	GFFTLEYLLR	LASTPDLRRF	ARSALNLVDL	VAILPLYLQL	LLECFTGEGH
370	380	390	400	410	420
QRGQTVGSVG	KVGQVLRVMR	LMRIFRILKL	ARHSTGLRAF	GFTLRQCYQQ	VGCLLLFIAM
430	440	450	460	470	480
GIFTFSAAVY	SVEHDVPSTN	FTTIPHSWWW	AAVSISTVGY	GDMYPETHLG	RFFAFLCIAF
490	500	510	520	530	540
GIILNGMPIS	ILYNKFSDYY	SKLKAYEYTT	IRRERGEVNF	MQRARKKIAE	CLLGSNPQLT

PRQEN