AiPD: Autoinhibited Protein Database

Q8TF62

Gene name	ATP8B4 (KIAA1939)
Protein name	Probable phospholipid-transporting ATPase IM
Names	ATPase class I type 8B member 4, P4-ATPase flippase complex alpha subunit ATP8B4
Species	Homo sapiens (Human)
KEGG Pathway	hsa:79895
EC number	7.6.2.1: Linked to the hydrolysis of a nucleoside triphosphate
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-53 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-53 (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 Q8TF62

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8TF62-F1	Predicted				AlphaFoldDB

1035 variants for Q8TF62

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA7553880 rs767940332	3	C>F		No	ClinGen ExAC gnomAD
rs775362521 CA270589626	4	S>G		No	ClinGen Ensembl
rs759901432 CA7553879	6	K>M		No	ClinGen ExAC gnomAD
rs774496277 CA7553878	9	R>C		No	ClinGen ExAC TOPMed gnomAD
CA7553877 rs73402905	9	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392465711 rs73402905	9	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392464284 rs1337420934	10	E>D		No	ClinGen gnomAD
CA270567029 rs953814195	11	V>L		No	ClinGen TOPMed gnomAD
rs1470976581 CA392464278	12	E>K		No	ClinGen gnomAD
rs34330378 CA392464269	13	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs34330378 CA7553849	13	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs774338131 CA7553850	13	R>W		No	ClinGen ExAC TOPMed gnomAD
CA7553848 rs748964142	15	V>A		No	ClinGen ExAC gnomAD
rs1600210568 CA392464260	15	V>M		No	ClinGen Ensembl
CA392464251 rs1373365646	16	K>R		No	ClinGen gnomAD
CA7553847 rs373434156	17	A>D		No	ClinGen ESP ExAC TOPMed
TCGA novel	17	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs373434156 CA392464243	17	A>V		No	ClinGen ESP ExAC TOPMed
CA392464237 rs1337043231	18	N>I		No	ClinGen gnomAD
rs1337043231 CA392464238	18	N>S		No	ClinGen gnomAD
rs769131556 CA7553846	19	D>N		No	ClinGen ExAC gnomAD
rs74317179 CA7553845	20	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs74317179 CA7553844	20	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7553843 rs755515439	20	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	21	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1255828071 CA392464216	22	Y>H		No	ClinGen gnomAD
rs780339142 CA7553841	23	N>D		No	ClinGen ExAC gnomAD
CA270566980 rs187853876	24	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA7553840 rs758641123	24	E>V		No	ClinGen ExAC
rs370898278 CA7553838	25	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1340438692 CA392464178	27	Q>*		No	ClinGen gnomAD
CA7553837 rs115887548	27	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754011721 CA7553836	28	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1454700306 CA392464172	28	Y>H		No	ClinGen TOPMed gnomAD
rs1020842314 CA270566948	29	A>T		No	ClinGen TOPMed
rs182947621 COSM962523 CA7553835	29	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA7553815 rs142280058	32	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs762612545 CA7553814	32	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs142280058 CA7553816	32	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7553813 rs773097840	33	I>M		No	ClinGen ExAC gnomAD
rs140005897 CA7553812	34	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA392462770 rs1487570997	36	S>A		No	ClinGen gnomAD
CA270553567 rs199688981	36	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA392462761 rs1600063586	37	K>R		No	ClinGen Ensembl
rs567173125 CA7553810	38	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs144236893 CA7553808	40	I>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA392462724 rs1344654248	43	F>I		No	ClinGen gnomAD
rs1190474954 CA392462702	46	I>V		No	ClinGen TOPMed
CA392462687 rs1430783310	48	L>V		No	ClinGen TOPMed
CA392462676 rs1470592408	49	F>S		No	ClinGen TOPMed
rs775822186 CA392462666	50	E>D		No	ClinGen ExAC gnomAD
CA7553806 rs772676192	51	Q>E		No	ClinGen ExAC gnomAD
rs746196467 CA7553805	51	Q>H		No	ClinGen ExAC gnomAD
CA392462653 rs757705989	52	F>L		No	ClinGen TOPMed gnomAD
rs779392717 CA7553804	55	V>A		No	ClinGen ExAC TOPMed gnomAD
rs779392717 CA392462633	55	V>G		No	ClinGen ExAC TOPMed gnomAD
CA392462635 rs1404391361	55	V>M		No	ClinGen TOPMed
TCGA novel	56	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	58	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392462579 rs1237004656	63	L>F		No	ClinGen gnomAD
CA392462553 rs1202093066	67	Q>P		No	ClinGen gnomAD
CA392461824 rs1422577986	68	L>V		No	ClinGen TOPMed
CA392461800 rs1196906971	70	P>S		No	ClinGen gnomAD
COSM228624 CA7553781 rs748152515	73	S>F	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs752616626 COSM1708147 CA270552591	76	T>I	skin [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs752616626 CA392461735	76	T>S		No	ClinGen TOPMed gnomAD
CA392461716 rs1364037056	79	T>A		No	ClinGen gnomAD
rs758259882 CA7553779	80	T>S		No	ClinGen ExAC gnomAD
CA7553778 rs781273125	81	I>V		No	ClinGen ExAC TOPMed gnomAD
rs778834791 CA7553777	82	V>L		No	ClinGen ExAC gnomAD
CA7553775 rs201949459	83	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7553776 rs201949459	83	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392461686 rs1171520563	84	L>F		No	ClinGen gnomAD
rs752146039 CA7553772	87	V>A		No	ClinGen ExAC gnomAD
rs1445317057 CA392461666	88	I>L		No	ClinGen gnomAD
rs201187223 CA7553769	90	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392461639 rs1233635981	92	A>T		No	ClinGen gnomAD
CA7553766 rs773757586	96	A>V		No	ClinGen ExAC gnomAD
CA7553765 rs376376104	99	D>G		No	ClinGen 1000Genomes ExAC gnomAD
CA7553746 rs372854928	102	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs945620225 CA392465684	102	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs945620225 CA270550375	102	R>L		No	ClinGen gnomAD
CA392465677 rs1272093101	103	H>L		No	ClinGen TOPMed gnomAD
CA392465678 rs1272093101	103	H>R		No	ClinGen TOPMed gnomAD
CA7553745 rs768792174	104	K>R		No	ClinGen ExAC gnomAD
CA7553744 rs116312551	105	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1345795117 CA392465655	106	D>V		No	ClinGen gnomAD
rs1021020084 CA270550355	108	Q>R		No	ClinGen TOPMed gnomAD
rs1431609305 CA392465636	109	V>L		No	ClinGen TOPMed gnomAD
CA392465637 rs1431609305	109	V>M		No	ClinGen TOPMed gnomAD
rs770852393 CA7553742	110	N>S		No	ClinGen ExAC TOPMed gnomAD
rs369023249 CA7553740	111	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs369023249 CA7553741	111	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA7553739 rs747930131	112	R>G		No	ClinGen ExAC TOPMed gnomAD
CA7553737 rs780870766	112	R>Q		No	ClinGen ExAC gnomAD
CA7553738 rs747930131	112	R>W		No	ClinGen ExAC TOPMed gnomAD
CA270550331 rs774822064	113	Q>R		No	ClinGen Ensembl
CA392465597 rs751097035 CA7553735	115	E>D		No	ClinGen ExAC TOPMed gnomAD
CA392465593 rs766051030	116	V>A		No	ClinGen ExAC TOPMed gnomAD
rs766051030 CA7553734	116	V>E		No	ClinGen ExAC TOPMed gnomAD
rs1224570313 CA392465579	118	I>M		No	ClinGen gnomAD
rs1282217101 CA392465585	118	I>V		No	ClinGen gnomAD
CA392465573 rs1464179902	119	N>T		No	ClinGen TOPMed
CA7553731 rs765683484	120	S>G		No	ClinGen ExAC gnomAD
CA7553730 rs762197166	120	S>N		No	ClinGen ExAC TOPMed gnomAD
CA392465568 rs762197166	120	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1235616887 CA392464138	122	L>P		No	ClinGen TOPMed
rs775844717 CA270538955	125	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	126	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1356901696 CA392464101	127	W>*		No	ClinGen gnomAD
CA392464103 rs1333321006	127	W>R		No	ClinGen Ensembl
rs1361717256 CA392464088	128	M>I		No	ClinGen gnomAD
CA7553700 rs746820615	128	M>L		No	ClinGen ExAC TOPMed gnomAD
rs1219694394 CA392464086	129	N>D		No	ClinGen TOPMed
CA392464062 rs1180561923	132	V>L		No	ClinGen gnomAD
rs1041225209 CA270538941	134	D>G		No	ClinGen Ensembl
CA392464043 rs1438818916	135	I>V		No	ClinGen gnomAD
TCGA novel	139	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771890270 CA7553698	140	N>S		No	ClinGen ExAC gnomAD
CA7553696 rs778354697	141	N>K		No	ClinGen ExAC TOPMed gnomAD
rs745360115 CA7553697	141	N>T		No	ClinGen ExAC TOPMed gnomAD
rs754243975 CA7553694	142	Q>*		No	ClinGen ExAC gnomAD
rs936926740 CA270538901	142	Q>H		No	ClinGen TOPMed gnomAD
rs754243975 CA7553695	142	Q>K		No	ClinGen ExAC gnomAD
CA270538902 rs989724543	142	Q>R		No	ClinGen TOPMed
TCGA novel	143	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778276542 CA7553693	144	V>I		No	ClinGen ExAC gnomAD
CA392463486 rs1308949680	147	D>A		No	ClinGen TOPMed
rs1384853461 CA392463491	147	D>Y		No	ClinGen TOPMed
CA7553667 rs201434083	150	L>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201434083 CA7553666	150	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7553663 rs759399622	151	L>Q		No	ClinGen ExAC gnomAD
CA7553661 rs770659211	153	S>C		No	ClinGen ExAC gnomAD
rs748728878 CA7553660	153	S>N		No	ClinGen ExAC gnomAD
rs770659211 CA270532876	153	S>R		No	ClinGen ExAC gnomAD
CA392463369 rs1247505574	156	P>L		No	ClinGen TOPMed
rs1376417312 CA392463373	156	P>T		No	ClinGen TOPMed gnomAD
rs535184504 CA7553659	160	C>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs932725631 CA270532839	160	C>Y		No	ClinGen TOPMed
CA7553658 rs770285856	161	Y>C		No	ClinGen ExAC gnomAD
rs139366367 CA7553657	164	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA270532822 rs755801991	165	A>T		No	ClinGen Ensembl
rs961815905 CA270532821	168	D>G		No	ClinGen TOPMed
CA392463259 rs1241339124	168	D>Y		No	ClinGen gnomAD
rs1373112801 CA392462991	170	E>G		No	ClinGen gnomAD
CA392462986 rs1289339541	171	T>A		No	ClinGen gnomAD
rs759224177 COSM1666165 CA7553645	171	T>M	eye [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA392462976 rs1303007631	172	N>K		No	ClinGen gnomAD
TCGA novel	173	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7553644 rs116334504	176	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs550588980 CA7553643	176	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs550588980 CA392462952	176	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA392462951 rs1163570810	177	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	178	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA270528322 rs990760731	184	E>K		No	ClinGen TOPMed
rs762738397 CA7553642	185	L>P		No	ClinGen ExAC gnomAD
TCGA novel	187	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772852183 CA7553641	188	D>G		No	ClinGen ExAC gnomAD
rs1182657045 CA392462866	190	S>T		No	ClinGen gnomAD
CA7553640 rs769232792	191	R>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	191	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs897504003 CA270528297	192	L>I		No	ClinGen gnomAD
CA392462842 rs1488553133	194	G>E		No	ClinGen gnomAD
rs1266671342 CA392462829	196	D>Y		No	ClinGen gnomAD
rs772799219 CA7553621	197	G>E		No	ClinGen ExAC gnomAD
rs1213259135 CA392462823	197	G>R		No	ClinGen gnomAD
CA392462133 rs1410642863	201	C>F		No	ClinGen TOPMed
CA7553619 rs371250863	202	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs771553739 CA7553618	203	V>M		No	ClinGen ExAC TOPMed gnomAD
CA392462111 rs1462539597	205	N>Y		No	ClinGen TOPMed
TCGA novel	207	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201312247 CA7553615	208	L>*		No	ClinGen ExAC gnomAD
CA392462056 rs1168233326	212	M>L		No	ClinGen gnomAD
rs772433336 CA7553614	214	I>M		No	ClinGen ExAC gnomAD
CA392462042 rs1427473688	214	I>V		No	ClinGen gnomAD
CA270521317 rs938457469	216	S>F		No	ClinGen Ensembl
rs1567149452 CA392462007	219	D>A		No	ClinGen Ensembl
CA7553612 rs199543753	219	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs566076722 CA7553613	219	D>H		No	ClinGen 1000Genomes ExAC gnomAD
rs1406392616 CA392462000	220	S>N		No	ClinGen TOPMed gnomAD
CA7553611 rs771330036	220	S>R		No	ClinGen ExAC
TCGA novel	221	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7553609 rs749368357	224	L>F		No	ClinGen ExAC gnomAD
CA270521312 rs749368357	224	L>V		No	ClinGen ExAC gnomAD
CA7553608 rs777979191	225	N>D		No	ClinGen ExAC gnomAD
CA7553607 rs16963151 VAR_046962	225	N>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7553606 rs751451654	226	N>T		No	ClinGen ExAC gnomAD
CA7553605 rs779874795	228	K>T		No	ClinGen ExAC TOPMed
CA270521292 rs887129895	230	I>N		No	ClinGen TOPMed gnomAD
rs887129895 CA392461931	230	I>T		No	ClinGen TOPMed gnomAD
rs1296436113 CA392461901	235	I>L		No	ClinGen gnomAD
CA270521267 rs948573591	235	I>M		No	ClinGen Ensembl
CA7553601 rs761510117	237	R>S		No	ClinGen ExAC gnomAD
rs764846204 CA7553602	237	R>T		No	ClinGen ExAC gnomAD
rs137863355 CA270521222	238	N>S		No	ClinGen ESP TOPMed gnomAD
rs1169962914 CA392461875	239	T>N		No	ClinGen gnomAD
CA392461863 rs1160428873	241	W>L		No	ClinGen gnomAD
rs201216109 CA270521220	242	C>Y		No	ClinGen Ensembl
CA7553600 rs376745610	243	F>L		No	ClinGen ESP ExAC TOPMed
CA7553599 rs763592512	244	G>R		No	ClinGen ExAC TOPMed gnomAD
CA392461833 rs1481177608	245	M>T		No	ClinGen TOPMed
rs369193446 CA7553598	245	M>V		No	ClinGen ESP ExAC gnomAD
rs776026144 CA7553597	246	V>F		No	ClinGen ExAC gnomAD
rs1248831983 CA392461801	247	I>N		No	ClinGen gnomAD
TCGA novel	247	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1567148830 CA392461787	248	F>S		No	ClinGen Ensembl
TCGA novel	249	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7553576 rs760184645	251	P>L		No	ClinGen ExAC gnomAD
rs775000367 CA7553575	252	D>G		No	ClinGen ExAC gnomAD
CA7553573 rs199530533	256	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7553574 rs201751579	256	M>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1330043174 CA392461533	256	M>V		No	ClinGen gnomAD
rs773447978 CA7553572	257	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs773447978 CA392461527	257	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA392461524 rs1157867489	257	Q>R		No	ClinGen gnomAD
rs1599601496 CA392461511 COSM190109	259	S>G	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1414625315 CA392461485	262	T>K		No	ClinGen gnomAD
CA7553570 rs748239589	264	F>L		No	ClinGen ExAC
CA270516359 rs955752363	269	I>V		No	ClinGen TOPMed gnomAD
rs1478008270 CA392461430	270	D>G		No	ClinGen gnomAD
rs1201109425 CA392461424	271	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs771994739 CA7553568	272	L>*		No	ClinGen ExAC gnomAD
CA270516322 rs752148029	273	M>V		No	ClinGen TOPMed gnomAD
CA7553567 rs745740480	274	N>T		No	ClinGen ExAC gnomAD
rs778836392 CA7553566	276	L>V		No	ClinGen ExAC gnomAD
CA392461383 rs1599601097	277	V>A		No	ClinGen Ensembl
TCGA novel	277	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749076631 CA7553564	279	W>G		No	ClinGen ExAC gnomAD
CA392461350 rs1364495037	280	I>S		No	ClinGen TOPMed gnomAD
rs1364495037 CA392461351	280	I>T		No	ClinGen TOPMed gnomAD
rs774241042 CA7553548	282	G>A		No	ClinGen ExAC TOPMed gnomAD
rs774241042 CA7553549	282	G>E		No	ClinGen ExAC TOPMed gnomAD
CA392461325 rs1334210233	284	L>P		No	ClinGen gnomAD
CA392461317 rs1447848433	285	I>M		No	ClinGen gnomAD
rs1206037908 CA392461312	286	C>S		No	ClinGen TOPMed
rs1599590308 CA392461306	287	L>*		No	ClinGen Ensembl
CA270515266 rs1055481273	288	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	291	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	291	L>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs148834131 CA7553546	292	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA392461262 rs1475449517	294	G>*		No	ClinGen TOPMed
CA7553543 rs114086412	297	I>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1392213992 CA392461242	297	I>T		No	ClinGen TOPMed
CA7553542 rs114086412	297	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1459908239 CA392461231	298	W>C		No	ClinGen TOPMed
rs1169323275 CA392461234	298	W>L		No	ClinGen gnomAD
rs747741851 CA7553541	299	E>K		No	ClinGen ExAC gnomAD
CA392461221 rs1330945900	300	S>N		No	ClinGen TOPMed
rs781010706 CA7553539	300	S>R		No	ClinGen ExAC gnomAD
CA270515214 rs937128876	301	Q>E		No	ClinGen TOPMed
CA270515204 rs778297520	302	T>N		No	ClinGen Ensembl
rs751158436 CA7553537	303	G>A		No	ClinGen ExAC gnomAD
CA392461199 rs1482048010	304	D>N		No	ClinGen gnomAD
TCGA novel	305	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766973778 CA392461172	307	R>I		No	ClinGen ExAC gnomAD
rs766973778 CA392461173	307	R>K		No	ClinGen ExAC gnomAD
TCGA novel	307	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766973778 CA7553536	307	R>T		No	ClinGen ExAC gnomAD
rs1205260648 CA392461160	309	F>Y		No	ClinGen gnomAD
rs750797199 CA7553534	312	W>*		No	ClinGen ExAC TOPMed gnomAD
CA392461140 rs1310213465	312	W>R		No	ClinGen gnomAD
TCGA novel	313	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	314	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs143299187 CA7553533	314	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA392461116 rs1357686450	315	G>E		No	ClinGen TOPMed
rs140655722 CA7553531	315	G>R		No	ClinGen ExAC TOPMed gnomAD
rs764339571 CA7553530	317	K>N		No	ClinGen ExAC gnomAD
TCGA novel	317	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760720943 CA7553529	318	S>I		No	ClinGen ExAC TOPMed gnomAD
CA270515155 rs760720943	318	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7553528 rs775602637	319	S>P		No	ClinGen ExAC TOPMed gnomAD
CA270515133 rs918524256	320	V>M		No	ClinGen TOPMed
CA7553526 rs762729078	323	G>*		No	ClinGen ExAC TOPMed gnomAD
CA392461068 CA392461067 COSM962516 rs762729078	323	G>R	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD NCI-TCGA
CA392461036 rs1246066998	327	F>L		No	ClinGen gnomAD
CA7553524 rs143855417	327	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7553522 rs142863209	328	W>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7553523 rs747983512	328	W>*		No	ClinGen ExAC gnomAD
rs1186982365 CA392461023	329	S>L		No	ClinGen TOPMed
rs1182796874 CA392461005	332	I>V		No	ClinGen gnomAD
rs1263130041 CA392460987	335	N>H		No	ClinGen gnomAD
CA7553520 rs369316110	335	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs369316110 CA270515055	335	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	338	V>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1168485300 CA392460966	338	V>L		No	ClinGen TOPMed
rs538699611 CA7553519	339	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA392460956 rs1291504925	340	I>V		No	ClinGen gnomAD
rs1177563095 CA392460936	343	Y>H		No	ClinGen Ensembl
rs989442886 CA270515029	344	V>G		No	ClinGen Ensembl
CA392376013 rs1389600064	346	V>M		No	ClinGen TOPMed gnomAD
rs1455099513 CA392376004	347	E>D		No	ClinGen gnomAD
rs1567114181 CA392376006	347	E>G		No	ClinGen Ensembl
rs757819006 CA7553496	347	E>K		No	ClinGen ExAC
rs754196162 CA7553495	348	V>I		No	ClinGen ExAC TOPMed gnomAD
CA7553493 rs756481124	349	I>F		No	ClinGen ExAC gnomAD
rs752810289 CA7553492	350	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7553491 rs374330624 COSM962515	350	R>H	Variant assessed as Somatic; 0.0 impact. liver endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD
CA392375991 rs752810289	350	R>S		No	ClinGen ExAC gnomAD
CA270452237 rs942745173	351	L>V		No	ClinGen TOPMed
CA7553490 rs547461815	352	G>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1482478822 CA392375967	354	S>T		No	ClinGen TOPMed gnomAD
CA7553486 rs776717123	358	N>Y		No	ClinGen ExAC TOPMed gnomAD
CA7553485 rs139997674	360	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1562906 rs370938976 CA7553484	361	R>Q	large_intestine Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs992617847 CA270452212	361	R>W		No	ClinGen TOPMed
rs774965384 CA270452172	363	M>L		No	ClinGen ExAC TOPMed gnomAD
CA7553483 rs774965384	363	M>V		No	ClinGen ExAC TOPMed gnomAD
CA392375885 rs1227696258	365	Y>F		No	ClinGen gnomAD
rs199887907 CA7553482	367	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA7553481 rs745355532	367	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
COSM1373346 CA392375860 rs1399776425	369	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs77004004 CA7553478	371	P>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7553479 rs77004004	371	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1377147356 CA392375843	372	A>V		No	ClinGen gnomAD
rs142793068 CA7553476	375	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA7553474 rs781245015	375	R>P		No	ClinGen ExAC TOPMed gnomAD
CA7553475 rs781245015	375	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs375264378 CA7553472	378	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392375801 rs375264378	378	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7553470 rs371162808	380	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392375695 rs1277106852	385	Q>*		No	ClinGen gnomAD
CA392375676 rs1242852364	386	I>F		No	ClinGen gnomAD
rs144725991 CA7553467	386	I>T		No	ClinGen ESP ExAC TOPMed
CA392375661 rs1567113428	387	E>*		No	ClinGen Ensembl
rs759159982 CA7553465	389	I>L		No	ClinGen ExAC TOPMed gnomAD
rs759159982 CA7553464	389	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	390	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7553462 rs115015219	392	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7553460 COSM434004 rs200382600	394	T>M	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs200382600 CA7553461	394	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA7553457 rs781672064	395	G>D		No	ClinGen ExAC gnomAD
CA7553458 rs138799625	395	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA270452049 rs993997259	396	T>N		No	ClinGen Ensembl
CA392375490 rs1294601600	398	T>A		No	ClinGen TOPMed
CA270452030 rs901097403	398	T>N		No	ClinGen Ensembl
rs1355635557 CA392375451	400	N>S		No	ClinGen TOPMed
CA392375417 rs1232326075	402	M>T		No	ClinGen TOPMed
CA7553456 rs768908975	403	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1319703289 CA392375398	403	T>I		No	ClinGen TOPMed
CA7553455 rs190413059	406	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7553454 rs147193047	406	R>S		No	ClinGen ESP ExAC
rs116620124 CA7553453	407	C>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750571209 CA7553452	409	I>V		No	ClinGen ExAC gnomAD
rs1247349078 CA392375280	410	N>S		No	ClinGen gnomAD
CA7553451 rs777831552	412	R>S		No	ClinGen ExAC TOPMed gnomAD
rs756142555 CA7553450	413	I>F		No	ClinGen ExAC gnomAD
CA7553449 rs200015133	413	I>N		No	ClinGen ExAC TOPMed gnomAD
rs757839100 CA270451970	414	Y>C		No	ClinGen TOPMed
rs761255490 CA7553422	416	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA270445173 rs759006992	416	E>V		No	ClinGen Ensembl
rs769086511 CA7553420 CA7553421	417	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1171323864 CA392374635	418	H>P		No	ClinGen gnomAD
rs143688108 CA7553419	418	H>Q		No	ClinGen ESP ExAC TOPMed
CA7553417 rs776055944	419	D>N		No	ClinGen ExAC gnomAD
CA7553416 rs200356051	420	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1195538936 CA392374600	423	Q>R		No	ClinGen gnomAD
rs372625145 CA7553415	424	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA392374594 rs1247585197	424	K>T		No	ClinGen gnomAD
CA392374588 rs1599454563	425	T>A		No	ClinGen Ensembl
CA392374581 rs1356291130	426	E>*		No	ClinGen gnomAD
CA270445123 rs200588453	426	E>D		No	ClinGen Ensembl
CA7553414 rs138081061	427	I>V		No	ClinGen ESP ExAC gnomAD
CA7553413 rs771002297	429	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1339432513 CA392373791	432	E>K		No	ClinGen TOPMed gnomAD
CA270422556 rs891699079	433	P>L		No	ClinGen Ensembl
CA392373774 rs1273532150	434	V>A		No	ClinGen gnomAD
rs767565899 CA270422552	435	D>E		No	ClinGen Ensembl
CA7553395 rs55687265 CA7553396	436	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1363590310 CA392373756	437	S>L		No	ClinGen gnomAD
CA392373753 rs1477781764	438	V>I		No	ClinGen TOPMed
rs1047829903 CA270422526	439	K>E		No	ClinGen TOPMed gnomAD
rs1254402954 CA392373744	439	K>R		No	ClinGen Ensembl
CA392373738 rs1361387923	440	S>A		No	ClinGen TOPMed
CA392373737 rs1466144515	440	S>C		No	ClinGen TOPMed
CA7553394 rs749369483	441	Q>H		No	ClinGen ExAC TOPMed
CA270422515 rs116051324	441	Q>R		No	ClinGen 1000Genomes
rs367926530 CA7553393	442	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs746895063 CA7553391	443	D>G		No	ClinGen ExAC gnomAD
rs758152544 CA7553389	445	E>Q		No	ClinGen ExAC gnomAD
rs745703865 CA7553388	447	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1169504815 CA392373689	447	Q>H		No	ClinGen gnomAD
rs778606504 CA7553387	451	H>D		No	ClinGen ExAC TOPMed gnomAD
rs778606504 CA392373662	451	H>N		No	ClinGen ExAC TOPMed gnomAD
CA7553386 rs2452524 VAR_046963	452	H>N		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA270422470 rs974579978	452	H>R		No	ClinGen TOPMed gnomAD
rs1258210170 CA392373642	454	M>K		No	ClinGen gnomAD
rs753385287 CA7553385	455	E>D		No	ClinGen ExAC gnomAD
CA270422461 rs1044409798	455	E>K		No	ClinGen Ensembl
rs1312679740 CA392373621	457	I>S		No	ClinGen TOPMed
CA392373620 rs1312679740	457	I>T		No	ClinGen TOPMed
CA7553384 rs763453780	458	K>*		No	ClinGen ExAC gnomAD
CA392373604 COSM701113 rs1250472577	459	M>I	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA7553383 rs755705346	460	G>C		No	ClinGen ExAC gnomAD
CA270422427 rs755705346	460	G>S		No	ClinGen ExAC gnomAD
CA7553381 rs768178079	462	P>R		No	ClinGen ExAC gnomAD
rs943141553 CA270422408	463	K>E		No	ClinGen TOPMed gnomAD
rs759953665 CA7553380	464	V>L		No	ClinGen ExAC gnomAD
rs763429085 CA7553379	465	H>R		No	ClinGen ExAC TOPMed gnomAD
CA392373563 rs1471415824	466	E>*		No	ClinGen TOPMed gnomAD
CA7553378 rs766616579	467	F>Y		No	ClinGen ExAC gnomAD
rs1218982657 CA392373544	469	R>G		No	ClinGen TOPMed
CA392373542 rs1350365322	469	R>K		No	ClinGen TOPMed gnomAD
CA270422357 rs987585074	471	L>P		No	ClinGen TOPMed
rs778788481 CA270422347	472	A>T		No	ClinGen Ensembl
rs763015905 CA7553376	472	A>V		No	ClinGen ExAC gnomAD
CA270422336 rs568353492	473	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs979164825 CA270422335	473	L>P		No	ClinGen TOPMed gnomAD
CA7553374 rs568353492	473	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7553372 rs775375792	474	C>*		No	ClinGen ExAC TOPMed gnomAD
rs772047758 CA7553371	475	H>D		No	ClinGen ExAC gnomAD
rs1038532979 CA270422306	476	T>A		No	ClinGen Ensembl
rs1177281827 CA392373499	477	V>I		No	ClinGen gnomAD
CA392373487 rs1481327454 CA392373485	478	M>I		No	ClinGen gnomAD
rs745664165 CA7553370	480	E>Q		No	ClinGen ExAC gnomAD
CA7553369 rs778641111	481	E>*		No	ClinGen ExAC gnomAD
rs116566651 CA7553368	482	N>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392373454 rs1226889580	483	S>N		No	ClinGen gnomAD
rs528390895 CA7553366 COSM1184184	484	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA392373443 rs755654002	485	G>*		No	ClinGen ExAC gnomAD
rs140925871 CA7553351	485	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA7553365 CA392373444 rs755654002	485	G>R		No	ClinGen ExAC gnomAD
rs1567018717 CA618010137	489	Y>*		No	ClinGen Ensembl
CA7553349 rs759326491	489	Y>C		No	ClinGen ExAC gnomAD
CA7553350 rs374457100	489	Y>D		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs1455308009 CA618010136	490	Q>KKDVCHRYGW*		No	ClinGen gnomAD
CA392373384 rs1247425828	492	Q>P		No	ClinGen TOPMed
rs1357305502 CA392373371	494	P>S		No	ClinGen gnomAD
CA7553348 rs774366428	495	D>Y		No	ClinGen ExAC gnomAD
CA7553345 rs770589258	498	A>S		No	ClinGen ExAC TOPMed gnomAD
CA392373346 rs770589258	498	A>T		No	ClinGen ExAC TOPMed gnomAD
CA392373340 rs1188604587	499	L>V		No	ClinGen TOPMed gnomAD
rs918223879 CA270420055	502	A>T		No	ClinGen Ensembl
rs972448285 CA270420054	502	A>V		No	ClinGen Ensembl
rs1211775348 CA392373318	503	A>D		No	ClinGen gnomAD
rs777545139 CA7553343 COSM962512	503	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA392373315 rs1350132512	504	R>G		No	ClinGen gnomAD
rs769625113 CA7553342	506	F>L		No	ClinGen ExAC gnomAD
CA270420033 rs912343837 COSM221190	507	G>R	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated Ensembl
rs370913565 CA7553340	509	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	511	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1373342 CA270420027 rs867660365	512	S>F	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1376889811 CA392373252	513	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA7553338 rs376253325	513	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA392373241 rs1312195339	515	P>S		No	ClinGen TOPMed gnomAD
rs1323853314 CA392373219	518	I>T		No	ClinGen TOPMed
rs780644211 CA7553337	520	I>V		No	ClinGen ExAC TOPMed
TCGA novel	521	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	521	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392373195 rs1414928535	522	E>Q		No	ClinGen TOPMed gnomAD
CA392373188 rs758664132	523	L>M		No	ClinGen ExAC TOPMed gnomAD
CA392373171 rs1599225815	525	T>R		No	ClinGen Ensembl
CA392373165 rs1351319576	526	L>P		No	ClinGen TOPMed
CA7553335 rs750852287	527	V>A		No	ClinGen ExAC gnomAD
CA7553334 rs765432189	528	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1431029122 CA392373132	531	L>F		No	ClinGen gnomAD
rs1373230505 CA392373127	532	L>P		No	ClinGen gnomAD
rs762091320 CA7553333	534	F>L		No	ClinGen ExAC TOPMed gnomAD
CA270419991 rs937081515	535	L>*		No	ClinGen TOPMed
CA7553331 rs146835330	535	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392373103 rs1486715515	536	D>G		No	ClinGen gnomAD
CA270419970 rs138074435 COSM110526	537	F>L	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1249749667 CA392373094 COSM110526	537	F>L	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1340336077 CA392373087	538	N>K		No	ClinGen gnomAD
CA7553330 rs143788989	538	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA392373080 rs373044903	539	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA7553329 rs149204251	539	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA7553327 rs762638958	540	T>A		No	ClinGen ExAC gnomAD
rs762982328 CA270419943	540	T>I		No	ClinGen gnomAD
rs762982328 CA392373076	540	T>N		No	ClinGen gnomAD
rs1357236751 CA392373071	541	R>K		No	ClinGen gnomAD
CA7553325 rs769713406	545	S>C		No	ClinGen ExAC TOPMed gnomAD
rs776447921 CA7553323	546	V>A		No	ClinGen ExAC gnomAD
rs746573572 CA7553321	547	I>V		No	ClinGen ExAC gnomAD
rs940798819 COSM1184185 CA270413556	549	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA7553301 COSM1517123 rs771488564	549	R>Q	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1230359411 CA392372313	554	Q>R		No	ClinGen gnomAD
rs746316816 CA392372305	555	I>K		No	ClinGen ExAC gnomAD
rs746316816 CA7553300	555	I>T		No	ClinGen ExAC gnomAD
rs1566999062 CA392372308	555	I>V		No	ClinGen Ensembl
CA392372275 rs1190277001	560	K>E		No	ClinGen TOPMed
rs757584281 CA7553298	560	K>N		No	ClinGen ExAC gnomAD
rs1443640751 CA392372265	561	G>E		No	ClinGen gnomAD
CA392372262 rs1413559948	562	A>T		No	ClinGen TOPMed gnomAD
CA7553295 rs115731591	565	I>T		No	ClinGen 1000Genomes ExAC gnomAD
CA7553293 rs767573201	567	F>C		No	ClinGen ExAC gnomAD
rs755128579 CA7553292	567	F>L		No	ClinGen ExAC gnomAD
rs368117512 CA7553294	567	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA392372171 rs1240178552	573	S>T		No	ClinGen TOPMed gnomAD
CA392372162 rs1192137418	574	N>S		No	ClinGen gnomAD
CA7553291 rs548891167	575	E>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs373968587 CA7553289	581	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA392372114 rs1280658552 COSM3386917	581	T>M	pancreas [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA7553287 rs763649321	583	D>V		No	ClinGen ExAC gnomAD
rs760308939 CA7553286	584	H>N		No	ClinGen ExAC gnomAD
rs1242420121 CA392372097	584	H>R		No	ClinGen TOPMed
CA392372083 rs1238118234	586	S>T		No	ClinGen gnomAD
CA7553264 rs759032838	587	E>V		No	ClinGen ExAC TOPMed gnomAD
rs1446976526 CA392371492	589	A>T		No	ClinGen gnomAD
rs1415101009 CA392371456	590	G>A		No	ClinGen gnomAD
CA392371416 rs1566991775	592	G>S		No	ClinGen Ensembl
CA392371407 rs1271287827	592	G>V		No	ClinGen TOPMed
CA7553262 rs534438641	594	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs748504233 CA7553258	599	A>T		No	ClinGen ExAC TOPMed gnomAD
CA392371214 COSM3956711 rs1470969000	601	R>G	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs199648946 CA7553257	601	R>K		No	ClinGen ExAC TOPMed gnomAD
CA7553255 rs747086031	601	R>S		No	ClinGen ExAC gnomAD
rs199648946 CA7553256	601	R>T		No	ClinGen ExAC TOPMed gnomAD
rs894683127 CA270412344	602	D>H		No	ClinGen TOPMed gnomAD
CA392371125 rs1206124437	604	D>E		No	ClinGen gnomAD
TCGA novel	604	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	607	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1294971809 CA392371065	607	Y>N		No	ClinGen TOPMed
rs1599143211 CA392371031	608	F>L		No	ClinGen Ensembl
rs376388459 CA270412336	609	K>E		No	ClinGen ESP TOPMed gnomAD
rs1369139471 CA392370994	610	E>G		No	ClinGen gnomAD
CA7553253 rs758566412	610	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1352263405 CA392370965	611	W>*		No	ClinGen TOPMed
rs1302937129 CA392370980	611	W>R		No	ClinGen gnomAD
CA392370954 rs551895250	612	H>P		No	ClinGen 1000Genomes ExAC TOPMed
CA7553252 rs551895250	612	H>R		No	ClinGen 1000Genomes ExAC TOPMed
rs1439961418 CA392370957	612	H>Y		No	ClinGen gnomAD
rs1295031426 CA392370930	613	K>N		No	ClinGen gnomAD
CA7553251 rs777603804	613	K>R		No	ClinGen ExAC TOPMed gnomAD
CA392370921 rs1451576200	614	M>T		No	ClinGen gnomAD
CA7553248 rs200106056	618	A>E		No	ClinGen ExAC TOPMed gnomAD
CA7553249 rs200106056	618	A>G		No	ClinGen ExAC TOPMed gnomAD
rs200106056 CA7553250 COSM190094	618	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1392939680 CA392370827	619	N>I		No	ClinGen gnomAD
rs762398163 CA7553244	621	A>G		No	ClinGen ExAC gnomAD
CA270412297 rs530567189	621	A>S		No	ClinGen 1000Genomes ExAC gnomAD
rs530567189 CA7553245	621	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA392370815 rs1485834828 COSM383860	622	T>A	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA392370813 rs1485834828	622	T>S		No	ClinGen TOPMed gnomAD
rs140825100 CA7553241	624	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs769150801 CA7553239	626	D>E		No	ClinGen ExAC gnomAD
CA392370787 rs1416866126	626	D>N		No	ClinGen TOPMed
rs776931440 CA7553240	626	D>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7553237 rs775878069 COSM962508	628	R>*	endometrium Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs775878069 CA7553238	628	R>G		No	ClinGen ExAC TOPMed gnomAD
rs569305697 CA7553236	628	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA7553235 rs745981921	629	I>V		No	ClinGen ExAC TOPMed gnomAD
rs374378684 CA7553234	630	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA392370765 rs1289359556	630	A>T		No	ClinGen gnomAD
rs374378684 CA7553233	630	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA7553232 rs748120921	633	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs866255846 COSM137628 CA270412250	634	E>K	Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA7553231 rs780903881	636	I>V		No	ClinGen ExAC gnomAD
TCGA novel	637	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754787182 CA7553230	637	E>G		No	ClinGen ExAC TOPMed gnomAD
CA270412240 rs944414778	638	R>G		No	ClinGen gnomAD
CA7553228 rs766058317	640	L>M		No	ClinGen ExAC gnomAD
rs766058317 CA7553227	640	L>V		No	ClinGen ExAC gnomAD
CA7553210 rs201587457	644	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA7553211 rs747982890	644	G>S		No	ClinGen ExAC gnomAD
rs1481060894 CA392370661	645	A>T		No	ClinGen gnomAD
CA7553209 rs754734143	646	T>A		No	ClinGen ExAC
TCGA novel	646	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs115352001 CA270411815	647	A>T		No	ClinGen 1000Genomes TOPMed gnomAD
rs1599132987 CA392370645	648	V>L		No	ClinGen Ensembl
TCGA novel	649	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1054250622 CA270411807	649	E>K		No	ClinGen TOPMed
CA392370628 rs758057156	650	D>A		No	ClinGen ExAC TOPMed gnomAD
rs750099341 CA7553205	650	D>E		No	ClinGen ExAC gnomAD
CA7553206 rs758057156	650	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1489322080 CA392370601	654	E>A		No	ClinGen gnomAD
CA270411796 rs148041529	654	E>K		No	ClinGen ESP TOPMed
CA7553203 rs756814222	656	V>A		No	ClinGen ExAC gnomAD
CA392370588 rs1390482958	656	V>F		No	ClinGen gnomAD
CA392370590 rs1390482958	656	V>I		No	ClinGen gnomAD
CA392370585 rs1333789294	657	I>L		No	ClinGen gnomAD
rs1394473892 CA392370580	657	I>M		No	ClinGen TOPMed gnomAD
CA7553202 rs754358961	657	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1210200072 CA392370564	660	V>L		No	ClinGen TOPMed
CA7553200 rs761100900	661	T>R		No	ClinGen ExAC TOPMed gnomAD
rs764740473 CA7553201	661	T>S		No	ClinGen ExAC gnomAD
rs754629738 CA270411780	662	S>G		No	ClinGen ExAC gnomAD
CA7553197 rs144592750	662	S>I		No	ClinGen ExAC TOPMed gnomAD
CA7553198 rs144592750	662	S>N		No	ClinGen ExAC TOPMed gnomAD
rs754629738 CA7553199	662	S>R		No	ClinGen ExAC gnomAD
CA392370539 COSM318856 rs1419911517	664	S>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA7553196 rs774651858	665	L>P		No	ClinGen ExAC TOPMed gnomAD
CA7553195 rs770872950	666	A>P		No	ClinGen ExAC gnomAD
rs1272513285 CA392370530	666	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7553194 rs138365594	667	N>D		No	ClinGen ESP ExAC gnomAD
CA7553193 rs776525885	667	N>S		No	ClinGen ExAC gnomAD
CA7553192 rs768640242	670	I>F		No	ClinGen ExAC gnomAD
CA7553191 rs746804833	670	I>T		No	ClinGen ExAC gnomAD
CA270411759 rs954077568	671	W>C		No	ClinGen Ensembl
rs1378688812 CA392370453	672	V>I		No	ClinGen TOPMed
TCGA novel	673	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7553190 rs779758921	674	T>A		No	ClinGen ExAC TOPMed gnomAD
rs144610242 CA270411755	674	T>I		No	ClinGen ESP gnomAD
rs144610242 CA392370396	674	T>R		No	ClinGen ESP gnomAD
rs745466240 CA7553188	676	D>G		No	ClinGen ExAC gnomAD
CA7553185 rs182913149	678	Q>*		No	ClinGen 1000Genomes ExAC gnomAD
rs182913149 CA7553186	678	Q>E		No	ClinGen 1000Genomes ExAC gnomAD
CA7553169 rs770767838	683	N>S		No	ClinGen ExAC TOPMed gnomAD
CA7553168 rs748950307	684	I>V		No	ClinGen ExAC
CA270411058 rs754592023	685	G>S		No	ClinGen TOPMed
rs777357677 CA7553167	687	A>T		No	ClinGen ExAC gnomAD
CA392369651 rs1474810088	690	M>L		No	ClinGen TOPMed
rs781742233 CA392369629	693	D>E		No	ClinGen ExAC TOPMed gnomAD
CA7553165 rs748625362	693	D>G		No	ClinGen ExAC TOPMed gnomAD
rs755703313 CA7553166	693	D>N		No	ClinGen ExAC gnomAD
rs1329864798 CA392369627	694	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA7553163 rs755275195	695	M>L		No	ClinGen ExAC gnomAD
CA392369619 rs755275195	695	M>V		No	ClinGen ExAC gnomAD
rs114920507 CA7553161	697	D>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA270411025 rs1034899995	702	A>T		No	ClinGen Ensembl
rs1414239201 CA392369554	704	N>S		No	ClinGen gnomAD
COSM398470 rs1304919648 CA392369556	704	N>Y	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
CA392369550 rs1376352819	705	N>D		No	ClinGen gnomAD
CA270411020 rs1056762222	707	V>A		No	ClinGen TOPMed
CA7553159 rs564080405	707	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	708	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392376364 rs1182691781	715	K>N		No	ClinGen gnomAD
CA392376347 rs1484330086	718	Q>*		No	ClinGen TOPMed gnomAD
CA392376348 rs1484330086	718	Q>E		No	ClinGen TOPMed gnomAD
rs751479995 CA7553116	720	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1372175285 CA392376320	721	F>L		No	ClinGen TOPMed gnomAD
rs962805997 CA270440736	721	F>Y		No	ClinGen TOPMed
CA7553115 rs766468742	722	G>R		No	ClinGen ExAC
TCGA novel	723	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1168921000 CA392376287	726	N>S		No	ClinGen gnomAD
TCGA novel	728	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs909624706 CA270440735	729	N>S		No	ClinGen TOPMed
CA7553114 rs778228184	731	H>R		No	ClinGen ExAC gnomAD
CA270440722 rs375080776	733	V>F		No	ClinGen ESP TOPMed
rs757265807 CA270440693	734	C>R		No	ClinGen Ensembl
rs1311340417 CA392376225	735	E>D		No	ClinGen TOPMed gnomAD
rs761473687 CA7553110	735	E>G		No	ClinGen ExAC TOPMed
rs765126907 CA7553112	735	E>K		No	ClinGen ExAC gnomAD
CA392376223 rs1371221856	736	K>E		No	ClinGen TOPMed gnomAD
rs776171793 CA7553109	736	K>R		No	ClinGen ExAC gnomAD
rs980449990 CA270440648	737	K>N		No	ClinGen Ensembl
rs768172685 CA7553107	738	Q>*		No	ClinGen ExAC gnomAD
CA392376195 rs1354289371	740	L>M		No	ClinGen TOPMed
CA7553106 rs749196285	743	D>H		No	ClinGen ExAC TOPMed gnomAD
CA392376175 rs749196285	743	D>N		No	ClinGen ExAC TOPMed gnomAD
CA7553105 rs775958250	744	S>T		No	ClinGen ExAC gnomAD
rs142396118 CA7553104	745	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs779184734 CA7553102	745	I>T		No	ClinGen ExAC TOPMed gnomAD
CA7553103 rs142396118	745	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1599010451 CA392376150	747	E>A		No	ClinGen Ensembl
rs1275800546 CA392376129	750	I>V		No	ClinGen TOPMed gnomAD
rs1158515559 CA392376119	751	T>I		No	ClinGen TOPMed
TCGA novel	752	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756195853 CA7553098	755	A>D		No	ClinGen ExAC gnomAD
CA392376072 rs1382140831	758	I>T		No	ClinGen TOPMed
CA7553097 rs752881399	759	N>D		No	ClinGen ExAC TOPMed gnomAD
CA270440587 rs961820140	759	N>S		No	ClinGen TOPMed gnomAD
rs758342994 CA7553095	760	G>D		No	ClinGen ExAC TOPMed gnomAD
CA392376060 rs758342994	760	G>V		No	ClinGen ExAC TOPMed gnomAD
CA270440557 rs998036065	761	H>L		No	ClinGen TOPMed
rs966581186 CA270440533	761	H>Q		No	ClinGen TOPMed gnomAD
rs998036065 CA392376055	761	H>R		No	ClinGen TOPMed
rs750401417 CA7553094	762	S>G		No	ClinGen ExAC TOPMed gnomAD
rs765034700 CA7553093	762	S>N		No	ClinGen ExAC gnomAD
rs755132808 CA392376027	764	A>S		No	ClinGen ExAC TOPMed gnomAD
CA7553077 rs755132808	764	A>T		No	ClinGen ExAC TOPMed gnomAD
CA7553076 rs745762613	765	H>D		No	ClinGen ExAC TOPMed gnomAD
CA7553075 rs778755605	765	H>R		No	ClinGen ExAC gnomAD
rs745762613 CA392375818	765	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs757054235 CA7553074	766	A>V		No	ClinGen ExAC gnomAD
rs763802802 CA7553072	769	S>T		No	ClinGen ExAC TOPMed gnomAD
CA7553071 rs755699504	770	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	772	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA270438517 rs1044624139	773	N>S		No	ClinGen TOPMed gnomAD
COSM1724726 rs373435903 CA7553070	774	D>N	Variant assessed as Somatic; 0.0 impact. NS [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1434784093 CA392375673	778	L>V		No	ClinGen gnomAD
rs766971164 CA7553069	779	A>T		No	ClinGen ExAC TOPMed gnomAD
CA392375657 rs1215176493	780	C>S		No	ClinGen TOPMed gnomAD
CA392375633 rs1287705806	781	M>I		No	ClinGen gnomAD
rs576713410 CA7553068	781	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs774895282 CA7553067	782	C>F		No	ClinGen ExAC gnomAD
CA7553066 rs766849989	782	C>W		No	ClinGen ExAC gnomAD
CA7553065 rs116715364	784	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145377032 CA7553064	788	C>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA392375559 rs145377032	788	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA392375564 rs1598990348	788	C>S		No	ClinGen Ensembl
rs1325139944 CA392375549	789	R>K		No	ClinGen TOPMed gnomAD
CA7553063 rs770207242	790	V>I		No	ClinGen ExAC TOPMed gnomAD
rs75508967 CA270438451	791	T>P		No	ClinGen Ensembl
rs747135303 CA7553059	794	Q>R		No	ClinGen ExAC gnomAD
rs141037209 CA7553057	796	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA392375467 rs1421380058	797	Q>*		No	ClinGen gnomAD
rs935603125 CA270438417	798	V>A		No	ClinGen Ensembl
TCGA novel	799	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1477850633 CA392375448	799	V>I		No	ClinGen TOPMed gnomAD
rs531826217 CA270438383	800	E>D		No	ClinGen gnomAD
CA270438393 rs928212432	800	E>G		No	ClinGen Ensembl
CA7553055 rs777377084	804	K>E		No	ClinGen ExAC gnomAD
TCGA novel	804	K>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755931160 CA7553054	806	R>G		No	ClinGen ExAC gnomAD
rs752312796 CA7553053	809	V>A		No	ClinGen ExAC gnomAD
CA7553051 rs754468021	813	I>M		No	ClinGen ExAC gnomAD
CA7553052 rs143804562	813	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs149008340 CA7553050	814	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1226310863 CA392375253	817	A>G		No	ClinGen TOPMed
CA7553048 rs763308952	817	A>T		No	ClinGen ExAC gnomAD
rs1226310863 CA392375254	817	A>V		No	ClinGen TOPMed
CA7553047 rs773789627	818	N>S		No	ClinGen ExAC TOPMed gnomAD
CA270438265 rs867404498	819	D>N		No	ClinGen Ensembl
rs779763250 CA270438256	822	M>K		No	ClinGen Ensembl
rs765659718 CA7553046	822	M>L		No	ClinGen ExAC gnomAD
TCGA novel	822	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs377320089 CA7553045	823	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	824	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	824	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1415946551 CA392375176	825	S>R		No	ClinGen gnomAD
rs368776149 CA7553022	826	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs374381998 CA7553021	827	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs769787068 CA7553020	828	I>V		No	ClinGen ExAC gnomAD
CA392375136 rs72733085	829	G>A		No	ClinGen 1000Genomes TOPMed
CA270437733 rs72733085	829	G>D		No	ClinGen 1000Genomes TOPMed
rs1467832789 CA392375139	829	G>S		No	ClinGen TOPMed
rs1292068812 CA392375122	832	I>L		No	ClinGen gnomAD
rs115246990 CA7553018	833	S>G		No	ClinGen 1000Genomes ExAC gnomAD
CA7553017 rs768459939	833	S>N		No	ClinGen ExAC gnomAD
rs199647099 CA392375109	834	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7553015 rs199647099	834	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs757826409 CA7553014	835	Q>*		No	ClinGen ExAC gnomAD
CA392375090 rs1435622224	836	E>D		No	ClinGen gnomAD
rs1324884084 CA392375080	838	L>S		No	ClinGen gnomAD
CA7553012 rs779558895	839	Q>*		No	ClinGen ExAC gnomAD
rs1390050793 CA392375071	839	Q>H		No	ClinGen TOPMed
CA392375073 rs1322923946	839	Q>R		No	ClinGen TOPMed
CA7553011 rs757776554	840	A>G		No	ClinGen ExAC TOPMed gnomAD
rs543306490 CA7553010	842	L>S		No	ClinGen 1000Genomes ExAC gnomAD
CA7553008 rs572698150	845	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1332318684 CA392375026	846	Y>C		No	ClinGen TOPMed
CA392375023 rs1233598693	847	S>T		No	ClinGen TOPMed
rs752837125 CA7553007	850	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs767835339 CA7553006	850	Q>H		No	ClinGen ExAC gnomAD
rs759526767 CA7553005	852	R>*		No	ClinGen ExAC gnomAD
rs759526767 CA392374989	852	R>G		No	ClinGen ExAC gnomAD
rs774345282 CA7553004	852	R>I		No	ClinGen ExAC gnomAD
TCGA novel	853	Y>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA270437652 rs147865527	853	Y>S		No	ClinGen ESP TOPMed
rs1217133254 CA392374969	855	Q>*		No	ClinGen TOPMed gnomAD
CA392374958 CA7553002 rs761687861	856	R>S		No	ClinGen ExAC TOPMed gnomAD
CA392374957 rs1464386750	857	L>I		No	ClinGen TOPMed
rs112565041 CA270437645	858	L>P		No	ClinGen Ensembl
CA270437629 rs1031534005	859	L>F		No	ClinGen TOPMed
CA7552999 rs746871782	859	L>P		No	ClinGen ExAC gnomAD
TCGA novel	863	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1284719552 CA392374921	863	R>W		No	ClinGen gnomAD
COSM395574 CA392374906 rs1434957629	864	W>C	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
TCGA novel	864	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1598984707 CA392374903	865	S>A		No	ClinGen Ensembl
rs1339492657 CA392374895	866	Y>C		No	ClinGen gnomAD
TCGA novel	867	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745514384 CA7552996	868	R>*		No	ClinGen ExAC TOPMed gnomAD
rs778511160 CA7552995 COSM962506	868	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA270437601 rs144607474	870	C>Y		No	ClinGen ESP
rs1175731600 CA392374860	871	K>T		No	ClinGen gnomAD
COSM1301198 rs1427862685 CA392374851	872	F>L	urinary_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
CA7552994 rs756855180	872	F>S		No	ClinGen ExAC gnomAD
CA7552991 rs74012834	874	C>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs74012834 CA7552992	874	C>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs767774177 CA7552988	875	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs147687093 CA7552989	875	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA7552987 rs188756527	878	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA392374793 rs751800978	880	N>K		No	ClinGen ExAC gnomAD
CA392374796 rs1386817475	880	N>S		No	ClinGen TOPMed
CA7552985 rs113507900	882	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs763059590 CA7552984	882	A>V		No	ClinGen ExAC gnomAD
CA7552981 rs139129011	884	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA7552980 rs775290209	885	L>F		No	ClinGen ExAC gnomAD
rs909644023 CA392374761	886	V>L		No	ClinGen TOPMed gnomAD
rs909644023 CA270437486	886	V>M		No	ClinGen TOPMed gnomAD
rs745470992 CA392374750	887	H>Q		No	ClinGen ExAC gnomAD
rs774182392 CA7552977	889	W>*		No	ClinGen ExAC TOPMed gnomAD
rs370495677 CA7552976	892	F>I		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1373336 TCGA novel CA7552975 rs377417631	892	F>L	Variant assessed as Somatic; impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1488744693 CA392374711	893	F>L		No	ClinGen TOPMed
rs1210534671 CA392374704	894	C>G		No	ClinGen TOPMed
CA392374694 rs756575696	895	G>D		No	ClinGen ExAC gnomAD
CA7552974 rs778134079	895	G>S		No	ClinGen ExAC TOPMed gnomAD
CA7552973 rs756575696	895	G>V		No	ClinGen ExAC gnomAD
CA392374541 rs1386236314	900	T>A		No	ClinGen TOPMed
CA7552915 rs780339975	901	V>F		No	ClinGen ExAC TOPMed gnomAD
rs1192510930 CA392374529	902	Y>D		No	ClinGen gnomAD
rs1030296556 CA270423011	904	Q>*		No	ClinGen Ensembl
rs779047801 CA7552912	907	I>F		No	ClinGen ExAC TOPMed gnomAD
rs1344996008 CA392374490	907	I>S		No	ClinGen gnomAD
CA7552913 rs779047801	907	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1257075969 CA392374485	908	T>A		No	ClinGen gnomAD
rs1370783623 CA392374481	908	T>I		No	ClinGen TOPMed
rs1225478671 CA392374477	909	L>P		No	ClinGen gnomAD
rs757341793 CA7552911	910	F>V		No	ClinGen ExAC
rs1277594261 CA392374459	912	I>V		No	ClinGen TOPMed gnomAD
CA7552910 rs749390435	915	T>I		No	ClinGen ExAC gnomAD
CA392374430 rs1328418535	916	S>*		No	ClinGen gnomAD
CA7552908 rs754902875	920	L>V		No	ClinGen ExAC gnomAD
CA392374401 rs1401454222	921	A>V		No	ClinGen TOPMed gnomAD
CA270422994 rs868270455	922	M>I		No	ClinGen Ensembl
CA270422986 rs867448784	923	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7552906 rs766235736	927	Q>*		No	ClinGen ExAC gnomAD
rs1283240745 CA392374335	929	V>A		No	ClinGen gnomAD
rs780135907 CA7552868	929	V>L		No	ClinGen ExAC TOPMed gnomAD
rs780135907 CA392374337	929	V>M		No	ClinGen ExAC TOPMed gnomAD
rs745831786 CA7552866	930	S>N		No	ClinGen ExAC gnomAD
TCGA novel	931	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7552863 rs753459932	932	Q>H		No	ClinGen ExAC gnomAD
rs757108850 CA7552864	932	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA7552862 rs777453930	933	N>D		No	ClinGen ExAC TOPMed gnomAD
rs755611588 CA7552861	933	N>K		No	ClinGen ExAC gnomAD
rs1598841631 CA392374303	934	S>I		No	ClinGen Ensembl
rs141296878 CA270420632	934	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA392374299 rs1160206528	935	V>M		No	ClinGen TOPMed gnomAD
CA7552858 rs759907287	936	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs752136205 CA7552857	937	C>R		No	ClinGen ExAC gnomAD
CA392374282 rs1598841466	937	C>Y		No	ClinGen Ensembl
CA7552855 rs763422686	938	P>H		No	ClinGen ExAC
CA7552856 rs766618342	938	P>S		No	ClinGen ExAC gnomAD
TCGA novel	938	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1566912054 CA392374268	939	Q>H		No	ClinGen Ensembl
TCGA novel	939	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773553416 CA7552854	940	L>P		No	ClinGen ExAC gnomAD
rs1488055673 CA392374261	941	Y>H		No	ClinGen gnomAD
CA392374251 rs1241313246	942	K>T		No	ClinGen TOPMed gnomAD
rs527697143 CA7552852 CA392374239	944	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA270420552 rs560148678	945	Q>E		No	ClinGen 1000Genomes
rs75737947 CA7552850	946	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1222775837 CA392374216	948	L>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7552849 rs745755348	948	L>Q		No	ClinGen ExAC TOPMed gnomAD
rs770613490 CA7552847	949	L>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	950	F>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392374195 rs1289876796	951	N>S		No	ClinGen gnomAD
rs1159722198 CA392374184	952	K>N		No	ClinGen TOPMed
rs749142543 CA7552845	953	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7552844 rs139968118 COSM159291	953	R>H	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs370026347 CA7552843	954	K>E		No	ClinGen ESP ExAC gnomAD
rs972744038 CA270420482	954	K>R		No	ClinGen gnomAD
TCGA novel	955	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1370523396 CA392374157	957	I>V		No	ClinGen TOPMed gnomAD
rs376725309 CA270420471	958	C>*		No	ClinGen ESP TOPMed gnomAD
CA392374147 rs1168546459	958	C>Y		No	ClinGen TOPMed gnomAD
rs748227760 CA7552841	959	V>M		No	ClinGen ExAC TOPMed gnomAD
CA7552840 rs754553954	961	H>R		No	ClinGen ExAC TOPMed gnomAD
CA7552839 rs751986463	962	G>A		No	ClinGen ExAC gnomAD
rs187599410 CA270420430	964	Y>F		No	ClinGen 1000Genomes
CA7552838 rs766966140	964	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs372149438 CA7552837	966	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	970	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7552834 rs576137751	974	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7552832 rs768589949	976	A>D		No	ClinGen ExAC gnomAD
CA7552833 rs776944821	976	A>T		No	ClinGen ExAC gnomAD
rs368298201 CA7552831	979	N>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA270420393 rs114897082	979	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs774146425 CA7552830	979	N>S		No	ClinGen ExAC gnomAD
CA392374008 rs1407207645	980	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs749232421 CA7552828	983	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1418214600 CA392373973	985	G>E		No	ClinGen TOPMed
CA7552827 rs74811880	987	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7552825 rs747765187	988	I>M		No	ClinGen ExAC
rs116653049 CA7552826	988	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1411361064 CA392373930	991	Y>*		No	ClinGen gnomAD
CA7552823 rs145314628	991	Y>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754430415 CA7552822	992	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1445225681 CA392373926	992	Q>R		No	ClinGen gnomAD
rs779433161 CA7552820	993	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1042659494 CA270420360	995	A>E		No	ClinGen gnomAD
CA392373908 rs1480043687	995	A>T		No	ClinGen gnomAD
rs758917320 CA7552819	998	M>V		No	ClinGen ExAC gnomAD
CA7552818 rs750989403	999	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1232292072 CA392373865	1002	L>*		No	ClinGen gnomAD
rs757737957 CA7552816	1004	I>T		No	ClinGen ExAC gnomAD
rs765658038 CA7552817	1004	I>V		No	ClinGen ExAC gnomAD
CA7552815 rs753988142	1005	V>A		No	ClinGen ExAC gnomAD
TCGA novel	1006	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392373836 rs138247241	1007	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs764438473 CA7552814	1007	S>R		No	ClinGen ExAC gnomAD
CA7552813 rs138247241	1007	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs61736334 CA392373829	1008	V>A		No	ClinGen gnomAD
rs61736334 CA270420345	1008	V>E		No	ClinGen gnomAD
rs1260162863 CA392373038	1010	I>V		No	ClinGen gnomAD
rs1459916323 CA392372967	1016	Y>C		No	ClinGen gnomAD
rs377055699 CA7552789	1017	W>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs372573916 CA7552788	1019	F>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA392372920 rs150458103	1022	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs535873698 CA270414309	1023	V>G		No	ClinGen 1000Genomes
CA7552786 rs760415109	1023	V>I		No	ClinGen ExAC TOPMed gnomAD
CA7552785 rs115515712	1025	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756577155 CA7552784	1025	I>M		No	ClinGen ExAC TOPMed gnomAD
rs929707500 CA270414293	1026	W>G		No	ClinGen TOPMed gnomAD
CA7552782 rs779564745	1027	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs553389641 CA7552781	1029	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA270414283 rs933496270	1034	S>C		No	ClinGen TOPMed gnomAD
CA7552780 rs749741708	1034	S>T		No	ClinGen ExAC gnomAD
CA392372843 rs933496270	1034	S>Y		No	ClinGen TOPMed gnomAD
TCGA novel	1039	M>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1176511775 CA392372786	1042	N>D		No	ClinGen gnomAD
rs923407360 CA392372781	1042	N>K		No	ClinGen TOPMed
CA7552778 rs756398456	1046	G>S		No	ClinGen ExAC gnomAD
CA270414265 rs759904936	1049	P>S		No	ClinGen Ensembl
rs61731575 CA7552776	1051	Q>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs61731575 CA7552777	1051	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7552775 TCGA novel rs755057993	1052	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC TOPMed gnomAD
CA7552773 rs767914197	1056	G>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1056	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs369603325 CA392372666	1058	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA7552751 rs369603325	1058	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs753835824 CA7552749	1059	R>*		No	ClinGen ExAC TOPMed gnomAD
rs146911077 CA7552748	1059	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392372646 rs1327524527	1061	S>C		No	ClinGen TOPMed gnomAD
CA392372645 rs1327524527	1061	S>F		No	ClinGen TOPMed gnomAD
CA392372647 rs1327524527	1061	S>Y		No	ClinGen TOPMed gnomAD
rs760521345 CA7552747	1062	L>P		No	ClinGen ExAC TOPMed gnomAD
CA7552746 rs752603532	1063	T>I		No	ClinGen ExAC gnomAD
CA7552745 rs114970496	1065	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA392372617 rs1424392780	1066	C>Y		No	ClinGen gnomAD
CA392372608 rs1468990259	1067	I>M		No	ClinGen TOPMed gnomAD
rs774111011 CA7552743	1067	I>N		No	ClinGen ExAC gnomAD
CA7552744 rs759307195	1067	I>V		No	ClinGen ExAC TOPMed gnomAD
CA392372606 rs1490752286	1068	W>R		No	ClinGen TOPMed
TCGA novel	1069	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392372585 rs1438878747	1071	I>V		No	ClinGen gnomAD
CA7552741 rs762314630	1073	L>V		No	ClinGen ExAC gnomAD
CA392372564 rs1289820912	1074	T>I		No	ClinGen TOPMed gnomAD
rs1289820912 CA392372562	1074	T>K		No	ClinGen TOPMed gnomAD
CA392372560 rs1358492829	1075	T>A		No	ClinGen gnomAD
TCGA novel	1077	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773776972 CA7552740	1080	M>I		No	ClinGen ExAC TOPMed gnomAD
rs770272439 CA7552739	1082	V>L		No	ClinGen ExAC gnomAD
CA270412717 rs770272439	1082	V>M		No	ClinGen ExAC gnomAD
rs777029440 CA7552737	1084	A>T		No	ClinGen ExAC gnomAD
rs1598755956 CA392372497	1085	F>C		No	ClinGen Ensembl
rs768977473 CA7552736	1085	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1300942934 CA392372493	1086	R>K		No	ClinGen gnomAD
CA7552735 rs747262503	1087	F>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1087	F>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1358838753 CA392372463	1090	V>G		No	ClinGen TOPMed
CA392372460 rs1165854020	1091	D>Y		No	ClinGen gnomAD
rs758516378 CA7552733	1092	L>S		No	ClinGen ExAC gnomAD
rs745866057 CA7552732	1093	Y>*		No	ClinGen ExAC gnomAD
TCGA novel	1093	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1096	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1211239869 CA392372417	1097	S>I		No	ClinGen Ensembl
CA7552730 rs756060852	1098	D>G		No	ClinGen ExAC gnomAD
CA7552731 rs779043944	1098	D>Y		No	ClinGen ExAC
CA392372406 rs1266800493	1099	Q>*		No	ClinGen gnomAD
rs371642172 CA7552718	1100	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA7552717 rs771493565	1101	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7552716 rs142334062	1101	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392372055 rs746086865	1102	R>L		No	ClinGen ExAC TOPMed gnomAD
CA392372056 rs746086865	1102	R>P		No	ClinGen ExAC TOPMed gnomAD
CA7552714 rs746086865	1102	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7552715 rs749661483	1102	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA392372051 rs1208757572	1103	W>*		No	ClinGen gnomAD
rs778906441 CA7552713	1104	Q>L		No	ClinGen ExAC gnomAD
TCGA novel	1105	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7552712 rs757377430	1105	K>Q		No	ClinGen ExAC gnomAD
CA392372031 rs1256908852	1106	A>T		No	ClinGen TOPMed
rs1474481920 CA392372016	1108	K>E		No	ClinGen TOPMed
CA7552711 rs748122527	1108	K>N		No	ClinGen ExAC gnomAD
CA7552710 rs781221837	1111	R>G		No	ClinGen ExAC gnomAD
TCGA novel	1111	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754827446 CA7552709	1112	P>S		No	ClinGen ExAC gnomAD
CA270412141 rs1012401339	1114	S>G		No	ClinGen TOPMed
CA392371975 rs1598744287	1114	S>I		No	ClinGen Ensembl
CA7552706 rs766185262	1115	S>N		No	ClinGen ExAC TOPMed gnomAD
CA270412135 rs766185262	1115	S>T		No	ClinGen ExAC TOPMed gnomAD
rs147671341 CA270412131	1116	R>*		No	ClinGen ESP TOPMed
CA7552705 rs540983729	1116	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750060964 CA7552704	1118	P>R		No	ClinGen ExAC gnomAD
CA7552702 rs761263040	1119	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7552703 rs200848806 COSM1730814	1119	R>W	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1437985025 CA392371945	1120	T>N		No	ClinGen gnomAD
rs114013910 CA7552701	1121	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA7552700 rs764517232	1121	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA392371940 rs764517232	1121	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1470328310 CA392371932	1122	R>S		No	ClinGen gnomAD
rs761164604 CA7552699	1123	S>A		No	ClinGen ExAC gnomAD
CA7552698 rs775773188	1123	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs566468618 CA7552697	1124	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs114457386 CA7552695	1126	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392371899 rs1598743973	1128	S>A		No	ClinGen Ensembl
rs1235322175 CA392371891	1129	G>A		No	ClinGen TOPMed
CA392371876 rs1451305167	1131	A>G		No	ClinGen gnomAD
rs79668152 CA270412098	1134	H>Q		No	ClinGen Ensembl
rs746563174 CA270412095	1135	Q>R		No	ClinGen Ensembl
rs1484729981 CA392371836	1137	G>D		No	ClinGen TOPMed
CA7552693 rs749318606	1138	Y>C		No	ClinGen ExAC gnomAD
rs1461394557 CA392371823	1139	G>E		No	ClinGen gnomAD
TCGA novel	1140	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1141	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768774629 CA7552691	1142	I>T		No	ClinGen ExAC gnomAD
CA392371777 rs1202009405	1146	K>R		No	ClinGen gnomAD
rs201831894 CA7552689	1148	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	1149	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs145783329 CA392371755	1149	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA7552688 rs145783329	1149	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs779383571 CA7552687	1150	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1315007685 CA392371739	1152	N>Y		No	ClinGen TOPMed gnomAD
rs750065508 CA7552686	1153	P>L		No	ClinGen ExAC gnomAD
CA392371726 rs1381431819	1154	P>S		No	ClinGen gnomAD
CA7552685 rs200368948	1156	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA270412069 rs898446190	1156	T>I		No	ClinGen TOPMed gnomAD
CA7552683 rs753410805	1157	S>L		No	ClinGen ExAC gnomAD
CA270412065 rs757882616	1157	S>P		No	ClinGen Ensembl
rs1431426103 CA392371704	1158	G>A		No	ClinGen gnomAD
CA392371707 COSM701120 rs1158773155	1158	G>R	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1380465886 CA392371680	1162	T>A		No	ClinGen TOPMed
CA7552682 rs763580452	1162	T>I		No	ClinGen ExAC gnomAD
rs1174969435 CA392371665	1164	Y>C		No	ClinGen gnomAD
VAR_046964 CA7552679 rs16962989 RCV000963996	1165	N>K		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1331463541 CA392371651	1166	S>C		No	ClinGen TOPMed
rs750502754 CA270412054	1167	T>I		No	ClinGen Ensembl
CA7552677 rs753213729	1168	S>G		No	ClinGen ExAC gnomAD
CA7552676 rs767800308	1168	S>N		No	ClinGen ExAC TOPMed gnomAD
CA7552675 rs759891585	1168	S>R		No	ClinGen ExAC gnomAD
CA270412038 rs767557308	1169	W>C		No	ClinGen TOPMed gnomAD
rs200041151 CA7552674	1169	W>G		No	ClinGen ExAC gnomAD
CA7552673 rs771348525	1169	W>S		No	ClinGen ExAC TOPMed gnomAD
rs763257775 CA7552672	1170	I>T		No	ClinGen ExAC gnomAD
CA7552671 rs199917299	1171	E>A		No	ClinGen ExAC TOPMed gnomAD
CA392371566 rs1350502248	1173	L>S		No	ClinGen TOPMed
CA7552669 rs115284127	1174	C>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7552667 rs147231843	1175	K>E		No	ClinGen 1000Genomes ESP TOPMed gnomAD
CA7552666 rs779993189	1175	K>R		No	ClinGen ExAC gnomAD
CA392371451 rs1370086841	1178	T>I		No	ClinGen gnomAD
rs771776613 CA7552664	1180	T>N		No	ClinGen ExAC gnomAD
CA7552661 rs756960605	1181	V>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1182	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1598742913 CA392371303	1185	S>R		No	ClinGen Ensembl
CA392371283 rs1489685006	1185	S>R		No	ClinGen gnomAD
CA392371257 rs777303029	1186	Q>P		No	ClinGen ExAC
CA7552659 rs777303029	1186	Q>R		No	ClinGen ExAC
rs1031350149 CA270412015	1188	K>E		No	ClinGen TOPMed gnomAD
VAR_046965 CA7552657 rs16962987	1190	V>G		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA392371175 rs1223651283	1190	V>M		No	ClinGen gnomAD
CA7552656 rs753163809	1191	K>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1317600360 CA618010053	1193	L>S		No	ClinGen TOPMed gnomAD

No associated diseases with Q8TF62

4 regional properties for Q8TF62

Type	Name	Position	InterPro Accession
ptm	P-type ATPase, phosphorylation site	392 - 398	IPR018303
domain	P-type ATPase, C-terminal	841 - 1095	IPR032630
domain	P-type ATPase, N-terminal	15 - 81	IPR032631
domain	P-type ATPase, haloacid dehalogenase domain	372 - 864	IPR044492

Functions

		Description
EC Number	7.6.2.1	Linked to the hydrolysis of a nucleoside triphosphate
Subcellular Localization	Cell membrane ; Multi-pass membrane protein Golgi apparatus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
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.
phospholipid-translocating ATPase complex	A protein complex that functions as a phospholipid-translocating P-Type ATPase.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
specific granule membrane	The lipid bilayer surrounding a specific granule, a granule with a membranous, tubular internal structure, found primarily in mature neutrophil cells. Most are released into the extracellular fluid. Specific granules contain lactoferrin, lysozyme, vitamin B12 binding protein and elastase.
tertiary granule membrane	The lipid bilayer surrounding a tertiary granule.
trans-Golgi network	The network of interconnected tubular and cisternal structures located within the Golgi apparatus on the side distal to the endoplasmic reticulum, from which secretory vesicles emerge. The trans-Golgi network is important in the later stages of protein secretion where it is thought to play a key role in the sorting and targeting of secreted proteins to the correct destination.

4 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP hydrolysis activity	Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient.
ATPase-coupled intramembrane lipid transporter activity	Catalysis of the movement of lipids from one membrane leaflet to the other, driven by ATP hydrolysis. This includes flippases and floppases.
magnesium ion binding	Binding to a magnesium (Mg) ion.

2 GO annotations of biological process

Name	Definition
Golgi organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the Golgi apparatus.
phospholipid translocation	The movement of a phospholipid molecule from one leaflet of a membrane bilayer to the opposite leaflet.

11 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O43520	ATP8B1	Phospholipid-transporting ATPase IC	Homo sapiens (Human)	EV
P98198	ATP8B2	Phospholipid-transporting ATPase ID	Homo sapiens (Human)	PR
Q9Y2Q0	ATP8A1	Phospholipid-transporting ATPase IA	Homo sapiens (Human)	PR
O43861	ATP9B	Probable phospholipid-transporting ATPase IIB	Homo sapiens (Human)	PR
Q9P241	ATP10D	Phospholipid-transporting ATPase VD	Homo sapiens (Human)	PR
Q148W0	Atp8b1	Phospholipid-transporting ATPase IC	Mus musculus (Mouse)	SS
P70704	Atp8a1	Phospholipid-transporting ATPase IA	Mus musculus (Mouse)	PR
P98199	Atp8b2	Phospholipid-transporting ATPase ID	Mus musculus (Mouse)	PR
D4AA47	Atp8b1	Phospholipid-transporting ATPase IC	Rattus norvegicus (Rat)	SS
Q9U280	tat-1	Phospholipid-transporting ATPase tat-1	Caenorhabditis elegans	PR
Q5BL50	atp8b1	Phospholipid-transporting ATPase IC	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	SS

10	20	30	40	50	60
MFCSEKKLRE	VERIVKANDR	EYNEKFQYAD	NRIHTSKYNI	LTFLPINLFE	QFQRVANAYF
70	80	90	100	110	120
LCLLILQLIP	EISSLTWFTT	IVPLVLVITM	TAVKDATDDY	FRHKSDNQVN	NRQSEVLINS
130	140	150	160	170	180
KLQNEKWMNV	KVGDIIKLEN	NQFVAADLLL	LSSSEPHGLC	YVETAELDGE	TNLKVRHALS
190	200	210	220	230	240
VTSELGADIS	RLAGFDGIVV	CEVPNNKLDK	FMGILSWKDS	KHSLNNEKII	LRGCILRNTS
250	260	270	280	290	300
WCFGMVIFAG	PDTKLMQNSG	KTKFKRTSID	RLMNTLVLWI	FGFLICLGII	LAIGNSIWES
310	320	330	340	350	360
QTGDQFRTFL	FWNEGEKSSV	FSGFLTFWSY	IIILNTVVPI	SLYVSVEVIR	LGHSYFINWD
370	380	390	400	410	420
RKMYYSRKAI	PAVARTTTLN	EELGQIEYIF	SDKTGTLTQN	IMTFKRCSIN	GRIYGEVHDD
430	440	450	460	470	480
LDQKTEITQE	KEPVDFSVKS	QADREFQFFD	HHLMESIKMG	DPKVHEFLRL	LALCHTVMSE
490	500	510	520	530	540
ENSAGELIYQ	VQSPDEGALV	TAARNFGFIF	KSRTPETITI	EELGTLVTYQ	LLAFLDFNNT
550	560	570	580	590	600
RKRMSVIVRN	PEGQIKLYSK	GADTILFEKL	HPSNEVLLSL	TSDHLSEFAG	EGLRTLAIAY
610	620	630	640	650	660
RDLDDKYFKE	WHKMLEDANA	ATEERDERIA	GLYEEIERDL	MLLGATAVED	KLQEGVIETV
670	680	690	700	710	720
TSLSLANIKI	WVLTGDKQET	AINIGYACNM	LTDDMNDVFV	IAGNNAVEVR	EELRKAKQNL
730	740	750	760	770	780
FGQNRNFSNG	HVVCEKKQQL	ELDSIVEETI	TGDYALIING	HSLAHALESD	VKNDLLELAC
790	800	810	820	830	840
MCKTVICCRV	TPLQKAQVVE	LVKKYRNAVT	LAIGDGANDV	SMIKSAHIGV	GISGQEGLQA
850	860	870	880	890	900
VLASDYSFAQ	FRYLQRLLLV	HGRWSYFRMC	KFLCYFFYKN	FAFTLVHFWF	GFFCGFSAQT
910	920	930	940	950	960
VYDQWFITLF	NIVYTSLPVL	AMGIFDQDVS	DQNSVDCPQL	YKPGQLNLLF	NKRKFFICVL
970	980	990	1000	1010	1020
HGIYTSLVLF	FIPYGAFYNV	AGEDGQHIAD	YQSFAVTMAT	SLVIVVSVQI	ALDTSYWTFI
1030	1040	1050	1060	1070	1080
NHVFIWGSIA	IYFSILFTMH	SNGIFGIFPN	QFPFVGNARH	SLTQKCIWLV	ILLTTVASVM
1090	1100	1110	1120	1130	1140
PVVAFRFLKV	DLYPTLSDQI	RRWQKAQKKA	RPPSSRRPRT	RRSSSRRSGY	AFAHQEGYGE
1150	1160	1170	1180	1190
LITSGKNMRA	KNPPPTSGLE	KTHYNSTSWI	ENLCKKTTDT	VSSFSQDKTV	KL