AiPD: Autoinhibited Protein Database

O43861

Gene name	ATP9B (ATPIIB, NEO1L, HUSSY-20)
Protein name	Probable phospholipid-transporting ATPase IIB
Names	ATPase class II type 9B
Species	Homo sapiens (Human)
KEGG Pathway	hsa:374868
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)

1-103 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-103 (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 O43861

Entry ID	Method	Resolution	Chain	Position	Source
AF-O43861-F1	Predicted				AlphaFoldDB

1010 variants for O43861

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1464617075 CA402814524	2	A>P		No	ClinGen TOPMed gnomAD
CA402814523 rs1464617075	2	A>T		No	ClinGen TOPMed gnomAD
CA9007102 rs751106103	2	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1035000530 CA402814536	3	D>N		No	ClinGen TOPMed gnomAD
rs1035000530 CA303701696	3	D>Y		No	ClinGen TOPMed gnomAD
CA402814550 rs369332862	4	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA9007104 rs369332862	4	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs749990063 CA9007105	4	Q>H		No	ClinGen ExAC gnomAD
rs372988701 CA9007106	5	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA9007107 rs372988701	5	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9007109 rs374611661	5	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA402814568 rs376573401	5	I>N		No	ClinGen ESP TOPMed
CA303701712 rs376573401	5	I>S		No	ClinGen ESP TOPMed
CA9007111 rs747144142	6	P>L		No	ClinGen ExAC TOPMed gnomAD
rs747144142 CA9007112	6	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA9007110 rs778374001	6	P>S		No	ClinGen ExAC TOPMed gnomAD
CA9007114 rs746059704	7	L>F		No	ClinGen ExAC TOPMed gnomAD
rs769640790 CA9007115	8	Y>C		No	ClinGen ExAC gnomAD
rs1260521289 CA402814592	8	Y>H		No	ClinGen TOPMed
CA9007116 rs775231890	9	P>A		No	ClinGen ExAC TOPMed gnomAD
CA9007117 rs762690907	9	P>L		No	ClinGen ExAC TOPMed gnomAD
CA303701803 rs775231890	9	P>S		No	ClinGen ExAC TOPMed gnomAD
rs889132529 CA402814620	10	V>E		No	ClinGen gnomAD
rs889132529 CA303701814	10	V>G		No	ClinGen gnomAD
rs1430123096 CA402814616	10	V>L		No	ClinGen gnomAD
rs1430123096 CA402814615	10	V>M		No	ClinGen gnomAD
CA9007120 rs529205323	11	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs529205323 CA9007121	11	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1043294462 CA303701866	11	R>H		No	ClinGen Ensembl
rs750156893 CA9007122	12	S>C		No	ClinGen ExAC gnomAD
rs750156893 CA402814637	12	S>G		No	ClinGen ExAC gnomAD
CA303701885 rs760374686	12	S>I		No	ClinGen ExAC TOPMed gnomAD
rs760374686 CA9007123	12	S>N		No	ClinGen ExAC TOPMed gnomAD
CA402814640 rs760374686	12	S>T		No	ClinGen ExAC TOPMed gnomAD
CA402814655 rs1365073957	13	A>V		No	ClinGen gnomAD
CA402814666 rs1356222387	14	A>G		No	ClinGen TOPMed gnomAD
rs765747731 CA9007125	14	A>P		No	ClinGen ExAC TOPMed gnomAD
CA9007124 rs765747731	14	A>S		No	ClinGen ExAC TOPMed gnomAD
rs1356222387 CA402814662	14	A>V		No	ClinGen TOPMed gnomAD
CA402814683 rs1226037937	16	A>S		No	ClinGen gnomAD
rs1282780320 CA402814689	16	A>V		No	ClinGen gnomAD
TCGA novel	18	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402814729 rs200458809	20	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9007129 rs200458809	20	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs911658150 CA303701917	22	R>H		No	ClinGen TOPMed
rs911658150 CA402814760	22	R>L		No	ClinGen TOPMed
rs1269849877 CA402814775	23	A>G		No	ClinGen gnomAD
CA402814776 rs1269849877	23	A>V		No	ClinGen gnomAD
CA402814786 rs746138437	24	A>G		No	ClinGen ExAC TOPMed gnomAD
CA9007130 rs781123924	24	A>P		No	ClinGen ExAC
CA9007131 rs746138437	24	A>V		No	ClinGen ExAC TOPMed gnomAD
CA402814803 rs769978948	25	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA303701950 rs945777170	26	Y>C		No	ClinGen TOPMed gnomAD
rs749089234 CA9007134	27	S>I		No	ClinGen ExAC TOPMed gnomAD
rs372827340 CA303701968	28	A>S		No	ClinGen ESP TOPMed gnomAD
CA9007135 rs768386065	28	A>V		No	ClinGen ExAC gnomAD
CA303701988 rs935659214	29	A>V		No	ClinGen TOPMed
CA303701996 rs933444915	31	P>L		No	ClinGen TOPMed
CA402814874 rs922416237	31	P>S		No	ClinGen TOPMed gnomAD
CA303701995 rs922416237	31	P>T		No	ClinGen TOPMed gnomAD
CA402814902 rs1267569131	35	A>T		No	ClinGen TOPMed
rs1309762489 CA402814908	36	D>N		No	ClinGen gnomAD
rs1309762489 CA402814910	36	D>Y		No	ClinGen gnomAD
CA303702008 rs570030389	37	R>P		No	ClinGen 1000Genomes
CA402814925 rs1490885050	38	H>Q		No	ClinGen TOPMed gnomAD
rs771652687 CA9007138	38	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA402814928 rs4078115	39	S>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_047557 rs4078115 CA9007139	39	S>G		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1232330107 CA402814929	39	S>N		No	ClinGen gnomAD
rs1480981547 CA402814932	39	S>R		No	ClinGen gnomAD
rs1178926316 CA402814934	40	R>G		No	ClinGen gnomAD
CA303702043 rs1043036209	40	R>K		No	ClinGen TOPMed
CA9007168 rs768563044	41	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA402815708 rs1296820493	41	Y>C		No	ClinGen TOPMed
rs778542702 CA9007169	42	Q>H		No	ClinGen ExAC gnomAD
rs561253896 CA303724845	44	E>V		No	ClinGen 1000Genomes
rs1404564575 CA402815742	46	E>G		No	ClinGen gnomAD
rs1404564575 CA402815743	46	E>V		No	ClinGen gnomAD
CA9007170 rs528235910	47	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9007172 rs181100780	48	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9007174 rs148439063	49	H>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9007176 rs532507955	51	D>G		No	ClinGen 1000Genomes ExAC gnomAD
CA303724896 rs376884172	51	D>Y		No	ClinGen ESP
rs1418275063 CA402815798	54	P>L		No	ClinGen TOPMed
rs764555361 CA9007178	56	M>I		No	ClinGen ExAC gnomAD
CA402815805 rs1204282268	56	M>V		No	ClinGen gnomAD
CA9007179 rs774554333	57	M>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA402815826 rs1192118031	59	E>K		No	ClinGen gnomAD
CA402815840 rs1334322281	60	E>D		No	ClinGen Ensembl
CA402815836 rs1476161997	60	E>K		No	ClinGen gnomAD
rs750874362 CA9007182	61	G>D		No	ClinGen ExAC gnomAD
rs368760695 CA9007181	61	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA402815849 rs1469844996	62	F>S		No	ClinGen gnomAD
CA402815858 rs1290976897	63	E>G		No	ClinGen TOPMed
rs372679952 CA9007183	65	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs201658109 CA9007184	66	E>*		No	ClinGen ExAC gnomAD
rs201658109 CA303724934	66	E>Q		No	ClinGen ExAC gnomAD
CA402815890 rs1261262707	67	S>R		No	ClinGen gnomAD
rs754100061 CA9007185	70	H>N		No	ClinGen ExAC gnomAD
CA9007186 rs184924723	70	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1281588431 CA402815922	72	L>S		No	ClinGen gnomAD
COSM196203 CA9007189 rs376702405	74	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs376702405 CA402815932	74	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs199859397 CA9007191	74	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA9007192 rs770628713	75	A>V		No	ClinGen ExAC gnomAD
CA9007193 rs147127443	76	R>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9007194 rs745562214	77	I>T		No	ClinGen ExAC gnomAD
rs1284647499 CA402815947	77	I>V		No	ClinGen gnomAD
rs1480515160 CA402815956	78	M>I		No	ClinGen gnomAD
rs967224424 CA303725014	78	M>T		No	ClinGen TOPMed gnomAD
CA9007195 rs202122967	78	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9007196 rs775144507	81	K>R		No	ClinGen ExAC gnomAD
rs761140106 CA9007201	83	G>E		No	ClinGen ExAC TOPMed
rs773779626 CA9007199	83	G>R		No	ClinGen ExAC TOPMed gnomAD
CA9007200 rs761140106	83	G>V		No	ClinGen ExAC TOPMed
rs1421893097 CA402816001	85	E>D		No	ClinGen TOPMed gnomAD
CA9007203 rs753937719	85	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA9007204 rs201285799	86	W>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1365122814 CA402816015	87	F>S		No	ClinGen gnomAD
CA9007207 rs144519079	91	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1599506682 CA402816056	93	K>E		No	ClinGen Ensembl
CA402816072 rs1238287301	95	L>F		No	ClinGen TOPMed gnomAD
CA402816079 rs1280041396	96	C>R		No	ClinGen gnomAD
rs777706676 CA9007208	96	C>S		No	ClinGen ExAC gnomAD
rs1243488904 CA402816086	97	T>A		No	ClinGen gnomAD
rs1448674090 CA402816092	98	S>C		No	ClinGen TOPMed
CA402816695 rs759575257	99	C>W		No	ClinGen ExAC TOPMed gnomAD
rs767574500 CA9007250	103	L>P		No	ClinGen ExAC gnomAD
rs777060597 CA9007251	104	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA402816729 rs1402557134	105	N>H		No	ClinGen TOPMed
rs942438774 CA303733506	106	I>N		No	ClinGen TOPMed gnomAD
CA402816740 rs942438774	106	I>T		No	ClinGen TOPMed gnomAD
CA402816739 rs1181861129	106	I>V		No	ClinGen gnomAD
CA303733507 rs147862156	108	R>*		No	ClinGen ESP TOPMed gnomAD
VAR_061037 CA9007252 rs34938281	108	R>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA402816754 rs1382286439	109	R>G		No	ClinGen TOPMed
CA402816775 rs1461547322	111	K>N		No	ClinGen gnomAD
rs533856467 CA9007255	116	R>C		No	ClinGen ExAC gnomAD
CA9007256 rs763076944 COSM990064	116	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA9007257 rs763076944	116	R>L		No	ClinGen ExAC TOPMed gnomAD
CA9007259 rs761759241	117	T>I		No	ClinGen ExAC TOPMed gnomAD
CA9007258 rs751763607	117	T>P		No	ClinGen ExAC TOPMed gnomAD
rs756056288 CA9007262	119	W>R		No	ClinGen ExAC gnomAD
rs779811445 CA9007263	121	G>*		No	ClinGen ExAC gnomAD
CA9007264 rs753422254	123	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1461991123 CA402816884	124	E>K		No	ClinGen TOPMed
CA303733550 rs868471022	126	C>R		No	ClinGen Ensembl
rs778552494 CA9007266	129	K>N		No	ClinGen ExAC gnomAD
rs747783481 CA402816970	130	H>N		No	ClinGen ExAC gnomAD
CA402816979 rs1259929956	130	H>R		No	ClinGen gnomAD
CA9007267 rs747783481	130	H>Y		No	ClinGen ExAC gnomAD
CA402816988 rs1262901997	131	P>H		No	ClinGen TOPMed
CA9007268 rs757682267	134	S>C		No	ClinGen ExAC TOPMed gnomAD
CA9007269 rs757682267	134	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA9007270 rs746411106	135	I>T		No	ClinGen ExAC
rs558508118 CA9007271	138	Q>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1425933421 CA402817081	138	Q>R		No	ClinGen gnomAD
rs749382348 CA9007273	140	Y>C		No	ClinGen ExAC gnomAD
rs973348479 CA303733566	141	N>S		No	ClinGen TOPMed gnomAD
rs768845996 CA9007274	142	V>L		No	ClinGen ExAC gnomAD
CA402817156 rs1286854017	144	T>S		No	ClinGen gnomAD
rs567492442 CA303733585	147	P>L		No	ClinGen Ensembl
rs1599622444 CA402817186	147	P>S		No	ClinGen Ensembl
TCGA novel	148	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1484178345 CA402817388	149	V>I		No	ClinGen TOPMed
rs768898975 CA9007293	150	L>F		No	ClinGen ExAC TOPMed gnomAD
CA9007295 rs774550949	151	Y>C		No	ClinGen ExAC gnomAD
CA9007294 rs774550949	151	Y>F		No	ClinGen ExAC gnomAD
rs1221482833 CA402817429	154	F>L		No	ClinGen TOPMed gnomAD
rs773244729 CA9007298	155	K>R		No	ClinGen ExAC TOPMed gnomAD
rs773244729 CA402817433	155	K>T		No	ClinGen ExAC TOPMed gnomAD
CA402817449 rs1316766436	157	F>S		No	ClinGen gnomAD
CA9007299 rs760535601	158	L>M		No	ClinGen ExAC gnomAD
CA402817468 rs1489907836	160	L>F		No	ClinGen gnomAD
CA402817469 rs1489907836	160	L>V		No	ClinGen gnomAD
CA303735207 rs201493556	161	Y>*		No	ClinGen TOPMed gnomAD
CA9007300 rs766076135	161	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA402817490 rs1209483180	163	L>R		No	ClinGen gnomAD
CA9007301 rs776613887	163	L>V		No	ClinGen ExAC gnomAD
rs1407152926 CA402817491	164	V>I		No	ClinGen gnomAD
CA9007303 rs376041066	166	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1160173038 CA402817505	166	S>P		No	ClinGen gnomAD
rs200713503 CA9007304	167	C>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402817549 rs1599641838	172	P>L		No	ClinGen Ensembl
rs1373171717 CA402817576	176	I>M		No	ClinGen gnomAD
CA9007307 rs370381422	176	I>V		No	ClinGen ESP ExAC gnomAD
CA402817587 rs1448016930	178	Y>C		No	ClinGen TOPMed gnomAD
CA402817586 rs1448016930	178	Y>S		No	ClinGen TOPMed gnomAD
rs756569927 CA9007308	179	L>P		No	ClinGen ExAC TOPMed gnomAD
rs780251241 CA9007309	181	T>A		No	ClinGen ExAC gnomAD
CA303735246 rs916685634	181	T>I		No	ClinGen gnomAD
CA9007310 rs754446912	182	Y>C		No	ClinGen ExAC gnomAD
CA303735247 rs1049571360	183	W>G		No	ClinGen TOPMed gnomAD
CA9007311 rs145161958	184	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA402817630 rs1483000023	185	P>S		No	ClinGen TOPMed
CA9007355 rs375643863	187	G>V		No	ClinGen ESP ExAC gnomAD
rs113926843 CA303907483	191	A>T		No	ClinGen Ensembl
rs78358599 CA303907493	194	M>I		No	ClinGen Ensembl
rs963631538 CA303907488	194	M>V		No	ClinGen TOPMed
CA9007358 rs758807274	196	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs753284976 CA9007357	196	R>W		No	ClinGen ExAC gnomAD
rs1286297708 CA403075214	198	A>V		No	ClinGen gnomAD
rs781406293 CA9007362	199	I>T		No	ClinGen ExAC gnomAD
rs757259342 CA9007361	199	I>V		No	ClinGen ExAC gnomAD
CA403075224 rs1267603413	200	D>G		No	ClinGen gnomAD
CA9007363 rs746074871	201	E>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	201	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1200282235 CA403075240	202	F>C		No	ClinGen TOPMed gnomAD
rs200431802 CA403075243	203	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs530712695 CA303907528	203	R>Q		No	ClinGen gnomAD
rs200431802 CA9007364	203	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs749063439 CA9007366	204	R>C		No	ClinGen ExAC TOPMed gnomAD
rs148387710 CA9007368	204	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA9007367 rs148387710	204	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs138177421 CA9007369	206	Q>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs771699756 CA9007370	207	R>C		No	ClinGen ExAC TOPMed gnomAD
rs773068417 CA9007371	207	R>H		No	ClinGen ExAC TOPMed gnomAD
CA9007372 rs773068417	207	R>L		No	ClinGen ExAC TOPMed gnomAD
CA9007373 rs765743541	208	D>N		No	ClinGen ExAC TOPMed gnomAD
CA403075279 rs1441232631	209	K>R		No	ClinGen gnomAD
rs368206435 CA9007375	210	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	216	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1243376595 CA403075331	217	S>G		No	ClinGen gnomAD
CA403075334 rs1290564095	217	S>N		No	ClinGen gnomAD
CA403075339 rs1356444432	218	K>E		No	ClinGen gnomAD
rs1197809450 CA403075353	220	T>A		No	ClinGen TOPMed gnomAD
CA403075364 rs1568231407	222	R>G		No	ClinGen Ensembl
CA403075407 rs1189840265	225	V>A		No	ClinGen gnomAD
CA9007401 rs150886193	226	Q>K		No	ClinGen 1000Genomes ESP ExAC TOPMed
rs754080443 CA9007403	227	V>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	229	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	229	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA403075433 rs1468060881	229	S>N		No	ClinGen gnomAD
rs552823277 CA9007404	229	S>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1474664760 CA403075451	232	I>V		No	ClinGen TOPMed
CA403075458 rs1402609002	233	Q>E		No	ClinGen gnomAD
rs137963592 CA403075506	240	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs137963592 CA9007406	240	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA403075510 rs1442371782	241	E>K		No	ClinGen TOPMed
rs745555152 CA9007432	244	Q>E		No	ClinGen ExAC gnomAD
CA9007434 rs200187731	248	S>L		No	ClinGen ESP ExAC gnomAD
CA403075591 rs1368860151	250	M>L		No	ClinGen TOPMed gnomAD
CA9007436 rs375937348	250	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA9007437 rs201122445	251	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	252	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA403075606 rs1568289975	252	F>S		No	ClinGen Ensembl
CA403075618 rs1288424657	254	R>K		No	ClinGen gnomAD
rs143531795 CA9007470	260	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs201064736 CA9007439	260	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs952837369 COSM990068 CA303936988	261	S>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA303936985 rs905564242	261	S>P		No	ClinGen Ensembl
rs754652340 CA9007473	262	C>G		No	ClinGen ExAC gnomAD
rs200712194 CA303937017	263	F>S		No	ClinGen 1000Genomes
rs1158260413 CA403075695	264	I>T		No	ClinGen gnomAD
rs778501286 CA9007474	265	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM175260 rs140291894 CA9007475	265	R>Q	Variant assessed as Somatic; 0.0 impact. oesophagus large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs757501045 CA9007476	266	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1327097269 CA403075704	266	T>I		No	ClinGen TOPMed
rs757501045 CA403075702	266	T>S		No	ClinGen ExAC TOPMed gnomAD
rs746353745 CA9007478	270	D>G		No	ClinGen ExAC TOPMed gnomAD
CA403075780 rs1568338113	277	L>V		No	ClinGen Ensembl
CA403075785 rs1374351051	278	K>E		No	ClinGen gnomAD
rs1026535229 CA303937059	280	A>T		No	ClinGen Ensembl
TCGA novel	281	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1286277813 CA403075830	284	T>M		No	ClinGen TOPMed gnomAD
rs780256807 CA9007482	287	L>M		No	ClinGen ExAC gnomAD
rs749331175 CA9007483	288	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs774379590 CA9007485	289	A>S		No	ClinGen ExAC gnomAD
TCGA novel	290	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA303937088 rs933105330	291	G>W		No	ClinGen TOPMed
CA403078184 rs1387922558	292	D>E		No	ClinGen TOPMed
rs779263778 CA9007503	292	D>G		No	ClinGen ExAC gnomAD
rs779263778 CA9007502	292	D>V		No	ClinGen ExAC gnomAD
CA9007501 rs376085722	292	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	295	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9007504 rs771954799	296	I>N		No	ClinGen ExAC gnomAD
rs1240655952 CA403078208	296	I>V		No	ClinGen gnomAD
rs866237758 CA303946233	297	S>N		No	ClinGen Ensembl
TCGA novel	298	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA303946241 rs112970592	299	Y>F		No	ClinGen Ensembl
rs1473162624 CA403078241	301	Y>F		No	ClinGen gnomAD
TCGA novel	302	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1167012179 CA403078254	303	Q>*		No	ClinGen TOPMed gnomAD
CA303946263 rs376355054	304	K>T		No	ClinGen Ensembl
CA403078272 rs1172569035	305	P>L		No	ClinGen TOPMed
CA9007507 rs760426844	307	M>T		No	ClinGen ExAC gnomAD
rs376061646 CA9007509	308	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs147426701 CA9007508	308	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA403078305 rs1448525105	310	H>R		No	ClinGen TOPMed
rs759100396 CA9007510	310	H>Y		No	ClinGen ExAC gnomAD
rs752430927 CA403078324	312	F>L		No	ClinGen ExAC TOPMed gnomAD
CA9007513 rs762490113	313	E>K		No	ClinGen ExAC TOPMed gnomAD
CA403078340 rs1568372443	315	T>A		No	ClinGen Ensembl
CA403078341 rs1481818290	315	T>K		No	ClinGen gnomAD
rs1199018224 CA403078357	317	T>N		No	ClinGen TOPMed gnomAD
CA9007514 rs185631368	318	R>K		No	ClinGen 1000Genomes ExAC gnomAD
rs765738057 CA403078384	320	D>N		No	ClinGen ExAC gnomAD
rs765738057 CA9007540	320	D>Y		No	ClinGen ExAC gnomAD
CA303955373 rs1054117101	321	S>G		No	ClinGen TOPMed gnomAD
rs758450595 CA403078403	322	D>E		No	ClinGen ExAC gnomAD
rs186868522 CA9007541	322	D>N		No	ClinGen 1000Genomes ExAC gnomAD
rs367655880 CA9007543	323	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1372154522 CA403078417	325	I>V		No	ClinGen gnomAD
CA303955413 rs1044555728	327	E>G		No	ClinGen TOPMed
CA9007546 rs575066417	330	S>G		No	ClinGen 1000Genomes ExAC gnomAD
CA9007547 rs142600945	331	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA403078482 rs1487486432	334	T>A		No	ClinGen gnomAD
CA403078490 rs1236924657	335	L>S		No	ClinGen Ensembl
CA9007549 rs767057337	336	W>*		No	ClinGen ExAC gnomAD
rs191700008 CA9007550	337	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA9007552 rs768209292	338	S>N		No	ClinGen ExAC gnomAD
CA9007553 rs774188389	339	T>I		No	ClinGen ExAC
rs1160606124 CA403078522	340	I>T		No	ClinGen TOPMed gnomAD
rs761536216 CA9007554	340	I>V		No	ClinGen ExAC gnomAD
CA403078536 rs1293446287	342	A>G		No	ClinGen gnomAD
CA403078533 rs1456885548	342	A>S		No	ClinGen TOPMed gnomAD
TCGA novel	343	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA403078790 rs1257244525	344	G>D		No	ClinGen gnomAD
CA9007577 rs768596598	345	T>N		No	ClinGen ExAC gnomAD
rs139285015 CA9007579	347	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs764533605 CA9007580	347	I>T		No	ClinGen ExAC gnomAD
rs139285015 CA403078804	347	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1258966171 CA403078815	349	V>L		No	ClinGen gnomAD
CA9007581 rs776529294	351	I>L		No	ClinGen ExAC TOPMed gnomAD
CA9007582 rs761812799	351	I>T		No	ClinGen ExAC gnomAD
CA9007584 rs750643865	353	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1172829112 CA403078843	353	T>I		No	ClinGen gnomAD
TCGA novel	354	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9007586 rs779876736	354	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs572803090 CA9007587	355	K>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA403078862 rs1381433302	356	E>D		No	ClinGen TOPMed
CA403078861 rs1380539782	356	E>G		No	ClinGen TOPMed
CA403078866 rs1291481246	357	T>S		No	ClinGen TOPMed gnomAD
rs754999879 CA403078870	358	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9007588 rs754999879	358	R>G		No	ClinGen ExAC TOPMed gnomAD
rs200396916 COSM1480480 CA9007589	358	R>Q	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA303960450 rs950949036	359	S>N		No	ClinGen Ensembl
rs747678342 CA9007590	360	V>I		No	ClinGen ExAC gnomAD
CA403078890 rs1362408145	361	M>I		No	ClinGen gnomAD
rs987720041 CA303960464	361	M>T		No	ClinGen Ensembl
rs777351843 CA9007592	363	T>A		No	ClinGen ExAC gnomAD
rs1190584850 CA403078917	365	N>K		No	ClinGen TOPMed
rs539961081 CA9007593	365	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA403078924 rs1425003049	366	P>L		No	ClinGen TOPMed
CA303960476 rs1057508824	368	N>I		No	ClinGen TOPMed gnomAD
TCGA novel	368	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA403078939 rs1187112820	368	N>K		No	ClinGen TOPMed
CA9007610 rs746452091	370	V>I		No	ClinGen ExAC gnomAD
CA402815366 rs1568500563	371	G>A		No	ClinGen Ensembl
rs756963183 CA9007611	371	G>C		No	ClinGen ExAC TOPMed gnomAD
CA9007612 rs368936273	372	L>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA402815378 rs1313078240	373	L>F		No	ClinGen TOPMed
CA9007613 rs749665150	373	L>S		No	ClinGen ExAC gnomAD
rs1385731891 CA402815397	376	E>A		No	ClinGen gnomAD
rs1385731891 CA402815398	376	E>G		No	ClinGen gnomAD
CA9007614 rs768993945	378	N>S		No	ClinGen ExAC TOPMed gnomAD
CA9007616 rs201221449	379	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs774905035 CA9007615	379	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs772519357 CA9007617	380	L>V		No	ClinGen ExAC gnomAD
rs1599308886 CA402815423	381	T>A		No	ClinGen Ensembl
rs574780446 CA9007618	381	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402815429 rs1374153318	382	K>E		No	ClinGen TOPMed gnomAD
rs766640958 CA9007620	382	K>R		No	ClinGen ExAC gnomAD
CA9007621 rs776708241	383	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA402815443 rs1226045418	384	L>P		No	ClinGen gnomAD
TCGA novel	386	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402815468 rs1468329819	388	L>S		No	ClinGen gnomAD
rs1214662222 CA402815483	390	A>V		No	ClinGen gnomAD
CA402815495 rs1599309149	392	S>F		No	ClinGen Ensembl
rs1456645955 CA402815500	393	I>S		No	ClinGen gnomAD
CA9007625 rs758429339	393	I>V		No	ClinGen ExAC gnomAD
CA402815510 rs1471161189	395	M>L		No	ClinGen TOPMed gnomAD
rs751083504 CA9007627	395	M>T		No	ClinGen ExAC gnomAD
rs1471161189 CA402815509	395	M>V		No	ClinGen TOPMed gnomAD
rs756663580 CA402815526	397	T>I		No	ClinGen ExAC TOPMed gnomAD
CA9007628 rs756663580	397	T>N		No	ClinGen ExAC TOPMed gnomAD
rs897827675 CA303702497	398	L>F		No	ClinGen TOPMed
CA402815535 rs1461799203	399	Q>*		No	ClinGen gnomAD
CA9007629 rs780954793	399	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	401	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9007631 rs755385239	403	G>S		No	ClinGen ExAC TOPMed gnomAD
rs890520844 CA303702510	404	P>L		No	ClinGen Ensembl
rs779272517 CA9007632	404	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs371241213 CA9007634	407	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9007635 rs371121796	407	R>H	Variant assessed as Somatic; 4.637e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs371241213 CA402815586	407	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs374549676 CA9007636	408	N>S	Variant assessed as Somatic; 4.639e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA9007637 rs770914310	410	F>S		No	ClinGen ExAC gnomAD
CA303702544 rs145020816	411	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9007639 rs145020816	411	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA9007638 rs200586133	411	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1185456332 CA402815627	414	L>V		No	ClinGen gnomAD
CA402815635 rs531748646	415	L>H		No	ClinGen 1000Genomes ExAC gnomAD
CA9007641 rs531748646	415	L>P		No	ClinGen 1000Genomes ExAC gnomAD
rs199790096 CA303702567	418	Y>H		No	ClinGen 1000Genomes
CA9007642 rs762768001	420	I>V		No	ClinGen ExAC gnomAD
CA303702584 rs955887842	422	I>M		No	ClinGen gnomAD
CA9007643 rs764104429	423	S>G		No	ClinGen ExAC TOPMed gnomAD
rs781448227 COSM990072 CA9007656	425	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
COSM3403671 CA9007657 rs149013492	425	R>H	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA9007658 rs149013492	425	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA402817686 rs149013492	425	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1599520044 CA402817696	427	N>T		No	ClinGen Ensembl
CA9007660 rs200914231	429	D>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9007661 rs376665345	430	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1193584368 CA402817719	430	M>T		No	ClinGen gnomAD
rs1427730477 CA402817716	430	M>V		No	ClinGen gnomAD
rs200787709 CA9007663	433	A>V		No	ClinGen 1000Genomes TOPMed
CA402817756 rs1435975413	435	Y>C	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs749938619 CA9007667	438	M>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	439	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402817807 rs1383384545	439	M>L		No	ClinGen TOPMed gnomAD
CA402817811 rs1383384545	439	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA9007668 rs139331552	440	M>T		No	ClinGen 1000Genomes ExAC gnomAD
CA402817837 rs1296807560	441	K>E		No	ClinGen TOPMed gnomAD
CA402817840 rs1296807560	441	K>Q		No	ClinGen TOPMed gnomAD
rs1159458749 CA402817858	442	D>E		No	ClinGen TOPMed
rs766075140 CA9007669	444	N>S		No	ClinGen ExAC gnomAD
rs1232457924 CA402817891	445	I>F		No	ClinGen TOPMed gnomAD
TCGA novel	445	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402817889 rs1232457924	445	I>V		No	ClinGen TOPMed gnomAD
rs753482242 CA9007670	446	P>R		No	ClinGen ExAC gnomAD
rs1378119101 CA402817919	447	G>V		No	ClinGen gnomAD
CA9007671 rs576881435	448	T>M		No	ClinGen ExAC TOPMed gnomAD
rs775749856 CA303726868	450	V>I		No	ClinGen gnomAD
CA9007676 rs745961288 COSM196228	451	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA9007675 rs781738548	451	R>W		No	ClinGen ExAC gnomAD
rs1207958570 CA402817989	454	T>A		No	ClinGen TOPMed
rs769982207 CA9007677	455	I>V		No	ClinGen ExAC gnomAD
CA9007678 rs780491735	457	E>A		No	ClinGen ExAC gnomAD
TCGA novel	457	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749441189 CA9007679	461	R>C		No	ClinGen ExAC TOPMed gnomAD
rs768544807 CA9007680 COSM3147261	461	R>H	large_intestine Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1328757493 CA402818104	463	V>G		No	ClinGen TOPMed
CA9007682 rs528644156	463	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs772009178 CA9007683	466	L>S		No	ClinGen ExAC gnomAD
CA9007684 rs773118829	468	D>E		No	ClinGen ExAC gnomAD
rs1599521463 CA402818159	469	K>R		No	ClinGen Ensembl
rs1325505089 CA402818171	471	G>*		No	ClinGen gnomAD
rs1273646720 CA402819476	473	L>H		No	ClinGen gnomAD
CA9007705 rs770802937	474	T>I		No	ClinGen ExAC gnomAD
rs1259467268 CA402819485	475	Q>E		No	ClinGen TOPMed
CA402819484 rs1259467268	475	Q>K		No	ClinGen TOPMed
CA402819488 rs1231900601	475	Q>R		No	ClinGen gnomAD
rs1480686820 CA402819509	478	M>V		No	ClinGen gnomAD
CA402819525 rs1316938538	480	F>L		No	ClinGen TOPMed
rs775197791 CA9007709	482	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9007707 rs144039514	482	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1409607510 CA402819550	484	H>Y		No	ClinGen gnomAD
CA9007712 rs200806754	486	G>A		No	ClinGen ExAC TOPMed gnomAD
rs200806754 CA9007711	486	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1335386020 CA402819573	486	G>R		No	ClinGen TOPMed
CA9007713 rs200806754	486	G>V		No	ClinGen ExAC TOPMed gnomAD
CA402819597 rs766841649	487	T>I		No	ClinGen ExAC gnomAD
rs766841649 CA9007715	487	T>S		No	ClinGen ExAC gnomAD
rs201117656 COSM1563994 CA9007718	488	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs748368274 CA9007719	490	Y>C		No	ClinGen ExAC gnomAD
CA402819650 rs1555826499	491	G>R		No	ClinGen Ensembl
rs144164957 CA9007722	492	A>T	Variant assessed as Somatic; 4.627e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA9007725 CA303745680 rs745429178	493	D>E		No	ClinGen ExAC TOPMed gnomAD
rs776576160 CA9007724	493	D>N		No	ClinGen ExAC TOPMed gnomAD
CA9007727 rs775046912	494	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9007726 rs769343928	494	T>S		No	ClinGen ExAC gnomAD
CA402819720 rs1485020113 CA402819719	495	M>I		No	ClinGen gnomAD
CA9007730 rs768374404	495	M>L		No	ClinGen ExAC gnomAD
CA9007729 rs768374404	495	M>V		No	ClinGen ExAC gnomAD
CA402819737 rs1187880408	496	D>V		No	ClinGen gnomAD
rs761062099 CA9007731	499	Q>K		No	ClinGen ExAC gnomAD
CA303745735 rs35992437	500	S>N		No	ClinGen ExAC TOPMed gnomAD
CA9007732 rs35992437	500	S>T		No	ClinGen ExAC TOPMed gnomAD
rs754364088 CA9007733	501	H>R		No	ClinGen ExAC gnomAD
rs1599796507 CA402819817	501	H>Y		No	ClinGen Ensembl
rs932842020 CA303745744	502	V>A		No	ClinGen TOPMed
VAR_047558 RCV000967483 rs36034863 CA9007735	504	D>N		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1373717722 CA402819920	507	S>L		No	ClinGen gnomAD
rs752721391 CA9007736	508	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs752721391 CA402819923	508	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs1222571368 COSM3821763 CA402820210	509	M>I	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
RCV000905450 rs139181346 CA9007761	513	A>D		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA9007762 rs139181346	513	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747778288 CA9007765	516	N>Y		No	ClinGen ExAC TOPMed gnomAD
CA9007766 rs771572470	518	T>A		No	ClinGen ExAC gnomAD
CA402820271 rs1248599386	519	G>R		No	ClinGen gnomAD
CA303748388 rs530325952	519	G>V		No	ClinGen Ensembl
CA402820282 rs1366745205	521	T>A		No	ClinGen TOPMed
CA402820281 rs1366745205	521	T>P		No	ClinGen TOPMed
CA9007770 rs770350633	522	P>T		No	ClinGen ExAC gnomAD
CA9007771 rs143991050	524	R>K		No	ClinGen ESP ExAC gnomAD
CA402820315 rs1365150142	526	A>G		No	ClinGen gnomAD
CA9007772 rs763090038	526	A>T		No	ClinGen ExAC gnomAD
rs762119238 CA9007775	529	S>*		No	ClinGen ExAC
TCGA novel	532	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1440774341 CA402820351	532	K>R		No	ClinGen gnomAD
rs749918515 CA303748430	533	V>L		No	ClinGen Ensembl
CA402820379 rs1456360477	536	S>T		No	ClinGen TOPMed
CA9007778 rs755847576	537	V>I		No	ClinGen ExAC TOPMed gnomAD
rs766490486 CA9007779	538	S>N		No	ClinGen ExAC TOPMed gnomAD
rs969336680 CA303748440	538	S>R		No	ClinGen Ensembl
CA303748441 rs368327753	539	S>N		No	ClinGen ESP TOPMed gnomAD
rs372536187 CA9007780	540	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA9007782 rs201351448	540	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9007781 rs201351448	540	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402820414 rs1331191402	542	H>R		No	ClinGen TOPMed gnomAD
CA402820411 rs1233499206	542	H>Y		No	ClinGen gnomAD
CA9007785 rs777229868	545	V>M		No	ClinGen ExAC TOPMed gnomAD
rs548448121 CA402820443	546	K>N		No	ClinGen gnomAD
CA402820450 rs1568632217	547	A>V		No	ClinGen Ensembl
rs770142765 CA402820458	549	V>L		No	ClinGen ExAC TOPMed gnomAD
rs770142765 CA9007787	549	V>M		No	ClinGen ExAC TOPMed gnomAD
CA402820466 rs1329003225	550	L>P		No	ClinGen gnomAD
CA402820475 rs1337002961	551	C>W		No	ClinGen gnomAD
rs776019637 CA9007788	553	N>S		No	ClinGen ExAC gnomAD
rs769104238 CA402820491	554	V>L		No	ClinGen ExAC TOPMed gnomAD
CA9007790 rs769104238	554	V>M		No	ClinGen ExAC TOPMed gnomAD
rs868046988 CA303748497	556	P>L		No	ClinGen Ensembl
CA402820506 rs868046988	556	P>R		No	ClinGen Ensembl
rs1041600981 CA303748502	557	V>G		No	ClinGen gnomAD
CA9007792 rs200903609	557	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1270092670 CA402820515	558	Y>C		No	ClinGen gnomAD
TCGA novel	560	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs34750827 CA9007795	561	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs113105643 CA9007794	561	R>W		No	ClinGen ExAC TOPMed gnomAD
rs766252452 CA9007796	562	A>S		No	ClinGen ExAC gnomAD
rs199507159 CA9007799	563	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752261157 CA9007800	564	V>I		No	ClinGen ExAC gnomAD
CA402820562 rs1371107422	566	E>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs757836628 CA9007801	568	T>S		No	ClinGen ExAC gnomAD
rs1371877418 CA402820581	569	E>A		No	ClinGen gnomAD
rs1168135329 CA402820578	569	E>K		No	ClinGen gnomAD
CA402820583 rs1371877418	569	E>V		No	ClinGen gnomAD
CA9007803 rs113878267	571	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA303748559 rs113878267	571	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs186653900 CA9007804	572	E>K		No	ClinGen 1000Genomes ExAC
CA303748605 rs894107927	573	A>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1315344692 CA402820622	575	Q>R		No	ClinGen gnomAD
CA9007806 rs749614692	576	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1270931718 CA402820642	578	S>G		No	ClinGen gnomAD
CA9007808 rs531079582	578	S>T		No	ClinGen ExAC TOPMed gnomAD
CA9007809 rs748325541	579	D>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	579	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1226960047 CA402820653	579	D>V		No	ClinGen TOPMed
rs551659252 CA9007810	581	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs773530036 CA9007811	582	R>C		No	ClinGen ExAC gnomAD
rs760828032 CA9007813 COSM196229	582	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs760828032 CA9007812	582	R>P		No	ClinGen ExAC TOPMed gnomAD
rs1259486283 CA402820675	583	T>A		No	ClinGen gnomAD
rs776570191 CA9007814	586	A>V		No	ClinGen ExAC gnomAD
TCGA novel	587	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1193475726 CA402820709	588	S>I		No	ClinGen gnomAD
rs140577801 CA9007816	589	P>L		No	ClinGen ESP ExAC gnomAD
CA402820725 rs763492816	590	D>E		No	ClinGen ExAC TOPMed gnomAD
CA402820724 rs1395143568	590	D>V		No	ClinGen gnomAD
rs778281431 CA9007846	592	V>I		No	ClinGen ExAC TOPMed gnomAD
rs142521017 CA9007848	593	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA9007849 rs373383095	593	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1321072749 CA402816122	595	V>L		No	ClinGen TOPMed
CA402816133 rs1414665773	596	Q>H		No	ClinGen gnomAD
rs1183531777 CA402816130	596	Q>P		No	ClinGen gnomAD
rs1224971401 CA402816148	598	T>I		No	ClinGen TOPMed
CA402816151 rs1377109690	599	E>Q		No	ClinGen TOPMed
rs746067422 CA9007851	600	S>C		No	ClinGen ExAC TOPMed gnomAD
CA402816163 rs1600078203	600	S>R		No	ClinGen Ensembl
CA402816171 rs1350649172	602	G>S		No	ClinGen TOPMed gnomAD
rs377539032 CA9007854	604	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs377539032 CA9007853	604	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs909036089 CA303711725	605	L>P		No	ClinGen Ensembl
rs1353351882 CA402816193	606	V>F		No	ClinGen gnomAD
rs774259734 CA9007856	607	S>I		No	ClinGen ExAC gnomAD
rs774259734 CA402816200	607	S>N		No	ClinGen ExAC gnomAD
rs1313124246 CA402816204	608	R>G		No	ClinGen gnomAD
rs1323194090 CA402816206	608	R>K		No	ClinGen TOPMed gnomAD
CA402816226 rs1250338153	611	T>A		No	ClinGen gnomAD
rs766989723 CA9007858	611	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1250338153 CA402816227	611	T>P		No	ClinGen gnomAD
CA631290732 rs1254536623	612	S>*		No	ClinGen gnomAD
CA402816247 rs1162695959	614	Q>*		No	ClinGen TOPMed
CA402816251 rs1260389329	614	Q>H		No	ClinGen gnomAD
CA303711772 rs940562406	618	P>A		No	ClinGen Ensembl
CA402816278 rs1168514822	619	S>G		No	ClinGen gnomAD
rs765986047 CA9007866	620	G>D		No	ClinGen ExAC
CA9007868 rs138706709	621	Q>*		No	ClinGen ESP ExAC gnomAD
CA402816305 rs1447523264	623	L>F		No	ClinGen TOPMed gnomAD
CA402816312 rs1178305779	624	S>N		No	ClinGen TOPMed
CA402816309 rs1381151475	624	S>R		No	ClinGen TOPMed
CA303711805 rs970182660	624	S>R		No	ClinGen TOPMed
rs574479423 CA9007872	625	F>L		No	ClinGen 1000Genomes ExAC gnomAD
CA303711824 rs574479423	625	F>V		No	ClinGen 1000Genomes ExAC gnomAD
CA402816346 rs1195218346	629	Q>R		No	ClinGen gnomAD
CA402816360 rs1414070901	631	F>C		No	ClinGen gnomAD
rs1373600086 CA402816356	631	F>L		No	ClinGen gnomAD
CA402816363 rs535160750	632	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9007875 rs535160750	632	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9007874 rs535160750	632	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402816369 rs1381066632	633	F>I		No	ClinGen gnomAD
rs1600079382 CA402816375	634	T>P		No	ClinGen Ensembl
CA9007879 rs35782512	636	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs35782512 CA9007878	636	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA303711856 rs373738625	639	R>Q		No	ClinGen ESP TOPMed gnomAD
rs1204423234 CA402816410	639	R>W		No	ClinGen gnomAD
rs1485008746 CA402816427	641	G>V		No	ClinGen gnomAD
CA9007881 rs376190671	642	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1484406364 CA402816434	643	I>V		No	ClinGen gnomAD
CA9007882 rs149979572	644	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9007909 rs762210913	646	D>E		No	ClinGen ExAC gnomAD
CA402816468 rs1271457191	646	D>G		No	ClinGen gnomAD
rs768196733 CA9007910	648	S>P		No	ClinGen ExAC gnomAD
CA9007911 rs750938540	649	T>A		No	ClinGen ExAC gnomAD
CA9007912 rs760709646	649	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA303712610 rs775938694	651	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA402816503 rs1600085971	652	I>V		No	ClinGen Ensembl
CA402816513 rs1468626872	653	T>I		No	ClinGen TOPMed
rs753819979 CA9007914	658	G>V		No	ClinGen ExAC gnomAD
CA9007916 rs779049127	659	A>T		No	ClinGen ExAC gnomAD
CA402816556 rs1184005083	659	A>V		No	ClinGen TOPMed gnomAD
rs758180960 CA9007918	661	V>M		No	ClinGen ExAC TOPMed gnomAD
CA9007919 rs777725646	662	A>T		No	ClinGen ExAC gnomAD
CA9007920 rs746939670	663	M>V		No	ClinGen ExAC TOPMed gnomAD
CA9007921 rs770728086	664	S>C		No	ClinGen ExAC gnomAD
rs1288209440 CA402816590	665	P>S		No	ClinGen TOPMed gnomAD
CA402816600 rs780788902	666	I>M		No	ClinGen ExAC TOPMed gnomAD
rs769469626 CA9007923	667	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1291791687 CA402816610	668	Q>R		No	ClinGen TOPMed gnomAD
CA9007926 rs80029887	674	E>G		No	ClinGen ExAC gnomAD
CA9007925 rs769588347	674	E>K		No	ClinGen ExAC TOPMed
rs1258603722 CA402816668	676	E>K		No	ClinGen TOPMed
CA9007947 rs141654931	677	C>G		No	ClinGen ESP ExAC gnomAD
CA9007949 COSM1184196 rs138778143	678	G>R	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA402817810 rs1444183933	680	M>T		No	ClinGen TOPMed
rs771525864 CA9007950	680	M>V		No	ClinGen ExAC gnomAD
CA402817820 rs1232008520	681	A>T		No	ClinGen gnomAD
CA9007952 rs202230287	682	R>C		No	ClinGen 1000Genomes ExAC
rs201591038 CA9007954	682	R>H		No	ClinGen ExAC TOPMed gnomAD
CA9007953 rs201591038	682	R>P		No	ClinGen ExAC TOPMed gnomAD
CA9007951 rs202230287	682	R>S		No	ClinGen 1000Genomes ExAC
CA9007958 rs764159006	683	E>*		No	ClinGen ExAC gnomAD
CA9007960 rs767558633	683	E>A		No	ClinGen ExAC gnomAD
CA9007961 rs767558633	683	E>G		No	ClinGen ExAC gnomAD
CA9007959 rs764159006	683	E>K		No	ClinGen ExAC gnomAD
rs764159006 CA9007957	683	E>Q		No	ClinGen ExAC gnomAD
rs767558633 CA402817848	683	E>V		No	ClinGen ExAC gnomAD
CA402817859 rs1281862192	684	G>E		No	ClinGen gnomAD
rs755736059 CA9007962	684	G>R		No	ClinGen ExAC
CA402817879 rs754672336	686	R>L		No	ClinGen ExAC TOPMed gnomAD
CA9007965 rs754672336	686	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9007964 rs748739665	686	R>W		No	ClinGen ExAC TOPMed gnomAD
rs867076975 CA303719407	687	T>A		No	ClinGen TOPMed
CA402817898 rs1338529335	688	L>F		No	ClinGen TOPMed
rs201172611 CA9007966	689	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747469105 CA9007967	690	V>A		No	ClinGen ExAC gnomAD
rs371010785 CA303719477	694	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1340542719 CA402817966	694	A>T		No	ClinGen TOPMed
rs371010785 COSM309384 CA9007969	694	A>V	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs775555401 CA402818002	696	T>I		No	ClinGen ExAC TOPMed gnomAD
rs775555401 CA9007973	696	T>R		No	ClinGen ExAC TOPMed gnomAD
rs762967287 CA9007974	697	E>*		No	ClinGen ExAC gnomAD
rs768985807 CA9007975	697	E>V		No	ClinGen ExAC gnomAD
rs1251636891 CA402818043	699	Q>R		No	ClinGen gnomAD
rs1331660577 CA402818074	701	Q>R		No	ClinGen gnomAD
rs774432709 CA9007976	702	D>Y		No	ClinGen ExAC gnomAD
rs1422357714 CA402818187	705	S>N		No	ClinGen gnomAD
rs764671890 CA9008004	705	S>R		No	ClinGen ExAC gnomAD
rs1422357714 CA402818188	705	S>T		No	ClinGen gnomAD
CA303720231 rs893434394	706	R>Q		No	ClinGen TOPMed gnomAD
rs1459468412 CA402818200	707	Y>F		No	ClinGen gnomAD
rs1369924194 CA402818218	710	A>P		No	ClinGen gnomAD
CA9008006 rs757993891	711	K>E		No	ClinGen ExAC TOPMed gnomAD
rs777351131 CA9008007	711	K>M		No	ClinGen ExAC gnomAD
CA402818237 rs1227398747	713	S>N		No	ClinGen gnomAD
CA303720280 rs936815461	714	M>I		No	ClinGen TOPMed gnomAD
rs750847789 CA9008008	714	M>V		No	ClinGen ExAC gnomAD
CA402818254 rs1323032521	715	H>R		No	ClinGen gnomAD
rs1568738915 CA402818251	715	H>Y		No	ClinGen Ensembl
COSM77322 CA9008010 rs780579116	716	D>N	ovary [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA9008011 rs780579116	716	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA402818275 rs1206495396	718	S>F		No	ClinGen gnomAD
rs778892366 CA9008013	719	L>I		No	ClinGen ExAC gnomAD
CA303720302 rs146250378	720	K>*		No	ClinGen ESP gnomAD
CA9008014 rs200452568	720	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs772479284 CA9008015	722	A>V		No	ClinGen ExAC
CA9008017 rs140060049	723	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9008018 rs149798512	723	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1357235990 CA402818314	726	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	728	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	729	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1303182923 CA402818365	732	M>I		No	ClinGen gnomAD
rs585033 VAR_047559 CA9008022	732	M>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA9008023 rs762515563	734	L>P		No	ClinGen ExAC gnomAD
rs1365207287 CA402818380	735	L>Q		No	ClinGen gnomAD
rs373430011 CA9008026	739	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA9008027 rs751623399	740	V>M	Variant assessed as Somatic; 4.665e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs754192607 CA9008028	744	L>V		No	ClinGen ExAC gnomAD
CA9008031 rs748242388	748	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1423025641 CA402818469	749	R>Q		No	ClinGen TOPMed gnomAD
rs758521218 CA9008032	749	R>W		No	ClinGen ExAC gnomAD
rs778185940 CA9008033	751	T>M		No	ClinGen ExAC TOPMed gnomAD
CA9008035 rs771235769	752	L>M		No	ClinGen ExAC TOPMed gnomAD
rs940065267 CA303720449	754	M>L		No	ClinGen gnomAD
CA9008036 rs776292689	755	L>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	755	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402818506 rs776292689	755	L>R		No	ClinGen ExAC TOPMed gnomAD
rs976628308 CA303720465	756	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA9008037 rs777654085	756	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs554790401 CA9008039	758	A>S		No	ClinGen ExAC TOPMed gnomAD
rs554790401 CA303720502	758	A>T		No	ClinGen ExAC TOPMed gnomAD
rs200608167 CA9008041	759	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA9008042 rs773802367	761	K>R		No	ClinGen ExAC gnomAD
CA9008043 rs773802367	761	K>T		No	ClinGen ExAC gnomAD
rs1470238706 CA402818562	763	W>G		No	ClinGen TOPMed
TCGA novel	767	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9008065 rs374495132	768	D>N		No	ClinGen ESP ExAC gnomAD
rs759863969 CA9008066	768	D>V		No	ClinGen ExAC TOPMed gnomAD
rs148505056 CA9008067	769	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs752963660 CA9008068	771	E>K		No	ClinGen ExAC TOPMed gnomAD
CA402818637 rs1352621511	774	T>N		No	ClinGen TOPMed
rs764636406 CA9008070	776	I>V		No	ClinGen ExAC TOPMed gnomAD
rs751749460 CA9008071	777	A>G		No	ClinGen ExAC gnomAD
rs1322272663 CA402818679	780	S>L		No	ClinGen TOPMed
rs1217213494 CA402818682	781	H>Y		No	ClinGen gnomAD
TCGA novel	782	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750636267 CA9008075	783	V>L		No	ClinGen ExAC TOPMed gnomAD
rs750636267 CA9008074	783	V>M		No	ClinGen ExAC TOPMed gnomAD
rs977433358 CA303724465	785	R>G		No	ClinGen TOPMed
rs1460326161 CA402818707	785	R>T		No	ClinGen gnomAD
CA9008077 rs749018868	789	I>T		No	ClinGen ExAC TOPMed gnomAD
CA402818763 rs151110225	793	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA9008079 rs778815975	793	R>K		No	ClinGen ExAC gnomAD
rs142654821 CA9008095	796	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs778867446 CA9008097	798	R>G		No	ClinGen ExAC gnomAD
rs748102775 CA9008098	798	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA402818812 rs1249927968	799	G>E		No	ClinGen TOPMed
rs777341266 CA9008100	799	G>R		No	ClinGen ExAC gnomAD
CA303725901 rs910469443	800	E>G		No	ClinGen TOPMed
rs944660957 CA303725909	801	A>P		No	ClinGen TOPMed
rs1292200884 CA402818862	806	N>K		No	ClinGen TOPMed
CA402818866 rs1470460658	807	A>T		No	ClinGen gnomAD
CA9008102 rs770673254	807	A>V		No	ClinGen ExAC gnomAD
CA402818873 rs1386599010	808	F>S		No	ClinGen gnomAD
CA9008103 rs147932692	809	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA402818878 rs1296328595	809	R>Q		No	ClinGen gnomAD
CA9008105 rs749712458	812	H>Q		No	ClinGen ExAC gnomAD
CA9008106 rs141182661	813	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	814	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9008108 rs767848189	815	A>T		No	ClinGen ExAC gnomAD
CA303725952 rs371724027	816	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA
CA303725954 rs878958837	818	I>L		No	ClinGen gnomAD
rs878958837 CA402818934	818	I>V		No	ClinGen gnomAD
rs150322894 CA9008109	819	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA402818965 rs1239694073	823	L>V		No	ClinGen TOPMed
CA402818993 rs1202061345	825	V>A		No	ClinGen gnomAD
rs569549207 CA9008134	828	K>N		No	ClinGen 1000Genomes ExAC gnomAD
rs766466044 CA9008132	828	K>R		No	ClinGen ExAC TOPMed gnomAD
rs766466044 CA9008133	828	K>T		No	ClinGen ExAC TOPMed gnomAD
CA9008136 rs138003617	829	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs765384934 CA9008135	829	Y>F		No	ClinGen ExAC gnomAD
rs764134089 CA402819026	831	E>K		No	ClinGen ExAC TOPMed gnomAD
CA9008138 rs764134089	831	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA9008140 rs757212661	835	V>M		No	ClinGen ExAC gnomAD
CA402819068 rs1306031130	836	E>D		No	ClinGen TOPMed gnomAD
CA9008141 rs780880240	838	A>S		No	ClinGen ExAC TOPMed gnomAD
CA402819081 rs1429706518	839	C>R		No	ClinGen TOPMed
rs1391667991 CA402819084	839	C>S		No	ClinGen TOPMed gnomAD
rs1391667991 CA402819083	839	C>Y		No	ClinGen TOPMed gnomAD
rs749890416 CA9008142	840	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1308658701 CA402819092	840	Q>P		No	ClinGen gnomAD
CA9008143 rs755848742	842	P>S		No	ClinGen ExAC gnomAD
CA402819108 rs1205662343	843	A>T		No	ClinGen TOPMed
rs748615677 CA9008145	844	V>M		No	ClinGen ExAC gnomAD
CA402819129 rs1225362957	846	C>S		No	ClinGen TOPMed gnomAD
CA402819136 rs1250137693	847	C>Y		No	ClinGen gnomAD
CA9008146 rs772299729	848	R>C		No	ClinGen ExAC gnomAD
CA9008147 rs778148653	848	R>H		No	ClinGen ExAC TOPMed gnomAD
CA9008149 rs771357238	850	S>L		No	ClinGen ExAC
CA402819162 rs1422230460	851	P>L		No	ClinGen gnomAD
rs776703909 CA9008150	852	T>I		No	ClinGen ExAC gnomAD
CA9008151 rs759598890	853	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs200790686 CA9008153	856	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA303726983 rs372879560	856	R>H		No	ClinGen ESP TOPMed gnomAD
CA402819193 rs372879560	856	R>L		No	ClinGen ESP TOPMed gnomAD
CA402819197 rs1299623619	857	I>N		No	ClinGen gnomAD
CA402819195 rs1462336410	857	I>V		No	ClinGen gnomAD
CA9008156 rs763819435	860	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1273068772 CA402819244	864	H>Q		No	ClinGen gnomAD
rs1175580288 CA402819250	865	T>R		No	ClinGen gnomAD
rs767507387 CA9008159	866	G>A		No	ClinGen ExAC TOPMed gnomAD
rs750015330 CA9008160	868	R>C		No	ClinGen ExAC TOPMed gnomAD
rs926575952 CA303727026	868	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs755682874 CA9008161	869	T>N		No	ClinGen ExAC TOPMed gnomAD
CA9008164 rs754617060	871	A>T		No	ClinGen ExAC TOPMed gnomAD
CA402819291 rs747313316	872	I>M		No	ClinGen ExAC TOPMed gnomAD
CA9008165 rs778000558	872	I>V		No	ClinGen ExAC gnomAD
rs771485807 CA9008169	873	G>C		No	ClinGen ExAC gnomAD
rs781164325 CA303727321	873	G>D		No	ClinGen gnomAD
CA9008167 rs771485807	873	G>R		No	ClinGen ExAC gnomAD
rs771485807 CA9008168	873	G>S		No	ClinGen ExAC gnomAD
rs781164325 CA402819304	873	G>V		No	ClinGen gnomAD
CA9008195 rs773099033	876	G>E		No	ClinGen ExAC TOPMed gnomAD
CA9008197 rs766277390	880	S>T		No	ClinGen ExAC gnomAD
CA402819367 rs1368490430	882	I>T		No	ClinGen TOPMed
CA303727332 rs113082537	883	Q>L		No	ClinGen Ensembl
CA402819382 rs1217914404	884	A>E		No	ClinGen gnomAD
rs1244939953 CA402819388	885	A>V		No	ClinGen gnomAD
rs1568769434 CA402819416	889	I>M		No	ClinGen Ensembl
CA9008198 rs776059320	889	I>T		No	ClinGen ExAC gnomAD
rs1204751521 CA402819417	890	G>R		No	ClinGen gnomAD
rs1270690372 CA402819427	891	I>T		No	ClinGen gnomAD
rs1157615422 CA402819445	894	K>E		No	ClinGen gnomAD
rs1242043175 CA402819577	896	G>S		No	ClinGen gnomAD
CA402819586 rs1383922616	897	K>E		No	ClinGen TOPMed
rs374039124 CA9008226	899	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1375529943 CA402819637	902	A>S		No	ClinGen TOPMed
rs752764821 CA9008228	902	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9008229 rs758747313	903	A>S		No	ClinGen ExAC gnomAD
rs746819784 CA9008231	904	D>H		No	ClinGen ExAC gnomAD
CA303733218 rs746819784	904	D>N		No	ClinGen ExAC gnomAD
CA402819667 rs770736960	905	F>C		No	ClinGen ExAC TOPMed gnomAD
CA9008232 rs770736960	905	F>Y		No	ClinGen ExAC TOPMed gnomAD
rs542341199 CA9008233	906	S>F		No	ClinGen 1000Genomes ExAC gnomAD
CA402819673 rs1391687210	906	S>P		No	ClinGen TOPMed
rs1600242506 CA402819695	908	T>M		No	ClinGen Ensembl
rs769654821 CA9008235	909	Q>R		No	ClinGen ExAC gnomAD
CA9008236 rs138745138	910	F>L		No	ClinGen ESP ExAC gnomAD
rs141870686 CA9008238	911	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA9008237 rs766459606 COSM238908	911	R>W	prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs774027337 CA9008239	912	H>R		No	ClinGen ExAC gnomAD
CA9008241 rs760998248	913	I>L		No	ClinGen ExAC TOPMed gnomAD
CA9008240 rs760998248	913	I>V		No	ClinGen ExAC TOPMed gnomAD
CA9008242 rs754080745	914	G>S		No	ClinGen ExAC gnomAD
rs1245594011 CA402819769	916	L>Q		No	ClinGen TOPMed gnomAD
rs1404429821 CA402819768	916	L>V		No	ClinGen TOPMed gnomAD
CA402819784 rs752889354	918	M>L		No	ClinGen ExAC gnomAD
CA9008245 rs752889354	918	M>V		No	ClinGen ExAC gnomAD
CA402819805 rs1600242865	919	V>G		No	ClinGen Ensembl
rs778188139 CA9008248	920	H>N		No	ClinGen ExAC gnomAD
CA402819816 rs201794360	920	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA9008247 rs778188139	920	H>Y		No	ClinGen ExAC gnomAD
CA9008250 rs553937934	921	G>R	Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA9008253 rs779963486	922	R>Q		No	ClinGen ExAC gnomAD
rs141264681 CA9008252	922	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9008254 rs748839083	924	S>G		No	ClinGen ExAC TOPMed gnomAD
rs768134742 CA9008255	927	R>K		No	ClinGen ExAC TOPMed gnomAD
CA9008256 rs773689028	928	S>L		No	ClinGen ExAC TOPMed gnomAD
rs771562243 CA9008258	929	A>V		No	ClinGen ExAC gnomAD
rs759972092 CA9008260	930	A>V		No	ClinGen ExAC gnomAD
CA402819927 rs1265754356	931	L>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA9008263 rs763503813	932	G>S		No	ClinGen ExAC TOPMed gnomAD
CA402819943 rs1228772255	933	Q>*		No	ClinGen gnomAD
rs1263080300 CA402819947	933	Q>L		No	ClinGen gnomAD
CA402819949 rs1263080300	933	Q>R		No	ClinGen gnomAD
rs764301018 CA402819958 CA303733372	934	F>L		No	ClinGen ExAC TOPMed gnomAD
CA402819953 rs1461121435	934	F>L		No	ClinGen TOPMed
CA9008265 rs751527845	935	V>I		No	ClinGen ExAC gnomAD
rs757515519 CA9008266	936	M>L		No	ClinGen ExAC gnomAD
rs1480921772 CA402819976	937	H>R		No	ClinGen gnomAD
CA9008267 rs767622715	938	R>G		No	ClinGen ExAC TOPMed gnomAD
rs750301611 CA9008268	941	I>V		No	ClinGen ExAC gnomAD
CA402820007 rs1258883313	942	I>N		No	ClinGen TOPMed
rs1387063609 CA402820006	942	I>V		No	ClinGen gnomAD
CA402820013 rs1302386715	943	S>A		No	ClinGen gnomAD
rs201586630 CA303733401	943	S>C		No	ClinGen TOPMed
TCGA novel	944	T>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1334761797 CA402820028	945	M>I		No	ClinGen gnomAD
rs1304371135 CA402820026	945	M>T		No	ClinGen gnomAD
CA402820023 rs1406439099	945	M>V		No	ClinGen gnomAD
CA9008313 rs749657455 COSM1524177	947	A>S	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs749084524 CA303733622	948	V>M		No	ClinGen Ensembl
TCGA novel	949	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs141754612 CA9008315	950	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1300777104 CA402820077	951	S>L		No	ClinGen TOPMed
CA9008320 rs199793187	956	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9008319 rs199793187	956	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs766570687 CA9008322	957	S>A		No	ClinGen ExAC gnomAD
CA402820118 rs1175678389	958	V>I		No	ClinGen TOPMed
CA402820126 rs1228474855	959	P>S		No	ClinGen gnomAD
rs1260266788 CA402820130	960	L>V		No	ClinGen TOPMed gnomAD
TCGA novel	961	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1568781404 CA402820156	963	G>D		No	ClinGen Ensembl
CA9008324 rs759218285	964	F>V		No	ClinGen ExAC gnomAD
CA9008325 rs765265533	965	L>V		No	ClinGen ExAC TOPMed
CA402820172 rs1203125662	966	M>V		No	ClinGen gnomAD
rs976794476 CA402820189	968	G>A		No	ClinGen gnomAD
rs976794476 CA303733682	968	G>E		No	ClinGen gnomAD
rs748491078 CA9008362	969	Y>C		No	ClinGen ExAC
CA303739483 rs1006890331	972	I>T		No	ClinGen TOPMed
rs1404613795 CA402820781	974	T>P		No	ClinGen gnomAD
rs1369938993 CA402820793	975	M>I		No	ClinGen gnomAD
rs1317515232 COSM1389841 CA402820823	979	F>L	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs867296778 CA303739505	980	S>T		No	ClinGen Ensembl
CA9008367 rs771017994	981	L>*		No	ClinGen ExAC gnomAD
CA9008368 rs776650462	981	L>F		No	ClinGen ExAC gnomAD
rs746080229 CA9008369	982	V>A		No	ClinGen ExAC gnomAD
rs1199822992 CA402820846	984	D>N		No	ClinGen TOPMed gnomAD
rs1248114795 CA402820857	985	Q>L		No	ClinGen TOPMed gnomAD
CA402820856 rs1248114795	985	Q>R		No	ClinGen TOPMed gnomAD
rs377408016 CA402820867	986	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1003797801 CA303739509	987	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1284482795 CA402820882	989	P>A		No	ClinGen TOPMed
rs571352904 CA303739522	989	P>L		No	ClinGen Ensembl
rs1600361222 CA402820890	990	E>A		No	ClinGen Ensembl
rs146580048 CA9008372	991	M>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9008373 rs146580048	991	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs371117673 CA9008371	991	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	993	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9008375 rs761795607	994	L>F		No	ClinGen ExAC gnomAD
rs1304072135 CA402820933	996	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1374118397 CA402820952	999	Y>*		No	ClinGen gnomAD
CA9008379 rs766045764	999	Y>C		No	ClinGen ExAC gnomAD
rs377285553 CA9008380	1000	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs370912575 CA303739556	1001	D>G		No	ClinGen ESP TOPMed
CA402820970 rs1358576933	1002	L>F		No	ClinGen TOPMed gnomAD
CA9008457 rs748999793	1007	S>C		No	ClinGen ExAC TOPMed gnomAD
rs748999793 CA402822239	1007	S>F		No	ClinGen ExAC TOPMed gnomAD
rs774913142 CA9008456	1007	S>T		No	ClinGen ExAC TOPMed gnomAD
rs768142469 CA9008458	1009	S>C		No	ClinGen ExAC gnomAD
rs369158081 CA303747582	1011	K>E		No	ClinGen ESP TOPMed
CA402822277 rs867156493	1013	F>S		No	ClinGen gnomAD
CA303747587 rs867156493	1013	F>Y		No	ClinGen gnomAD
rs773672805 CA9008459	1014	L>F		No	ClinGen ExAC gnomAD
CA303747597 rs890869343	1015	I>M		No	ClinGen TOPMed gnomAD
CA402822314 rs1458382882	1019	I>V		No	ClinGen TOPMed gnomAD
TCGA novel	1022	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777295840 CA9008462	1023	Q>*		No	ClinGen ExAC gnomAD
CA402822344 rs777295840	1023	Q>E		No	ClinGen ExAC gnomAD
rs149975826 CA9008483	1024	G>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs187515912 CA9008484	1025	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	1027	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402822399 rs1354260549	1029	Y>C		No	ClinGen gnomAD
CA303748312 rs914684659	1031	A>S		No	ClinGen Ensembl
TCGA novel	1031	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1450735762 CA402822423	1033	V>A		No	ClinGen TOPMed gnomAD
CA402822437 rs762939733	1035	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1177415300 CA402822442	1036	E>G		No	ClinGen gnomAD
rs764436392 CA9008488	1036	E>K		No	ClinGen ExAC TOPMed gnomAD
CA9008489 rs373266748	1039	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9008490 rs147249454	1040	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs767330843 CA9008491	1041	H>N		No	ClinGen ExAC TOPMed gnomAD
CA402822476 rs1600498532	1041	H>R		No	ClinGen Ensembl
rs1405034049 CA402822479	1042	V>M		No	ClinGen gnomAD
CA402822485 rs1276192606	1043	V>M		No	ClinGen TOPMed
CA9008493 rs140981029	1044	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs753450817 CA9008495	1045	I>M		No	ClinGen ExAC gnomAD
rs887819784 CA303748360	1047	F>L		No	ClinGen TOPMed
CA303748373 rs377352041	1049	A>T		No	ClinGen ESP TOPMed gnomAD
rs771804337 CA9008499	1053	T>I		No	ClinGen ExAC TOPMed gnomAD
rs746205390 CA402822549	1054	E>*		No	ClinGen ExAC TOPMed gnomAD
CA9008501 rs746205390	1054	E>K		No	ClinGen ExAC TOPMed gnomAD
CA9008503 rs776958596	1058	V>*		No	ClinGen ExAC
CA9008505 rs775848788	1059	A>E		No	ClinGen ExAC TOPMed gnomAD
CA9008504 rs775848788	1059	A>V		No	ClinGen ExAC TOPMed gnomAD
CA402822586 rs1343367424	1060	L>Q		No	ClinGen TOPMed gnomAD
rs767702816 CA9008509	1062	V>A		No	ClinGen ExAC gnomAD
COSM990081 CA9008508 rs147969611	1062	V>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs750255904 CA9008510	1063	R>C		No	ClinGen ExAC TOPMed gnomAD
CA303748419 rs148978890	1063	R>H		No	ClinGen ESP TOPMed gnomAD
rs188693255 CA9008512	1064	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	1064	T>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402822620 rs1467154977	1066	H>P		No	ClinGen gnomAD
rs1367979842 CA402822649	1070	V>M		No	ClinGen TOPMed
TCGA novel	1071	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778312002 CA9008516	1073	E>K		No	ClinGen ExAC gnomAD
CA402822667 rs778312002	1073	E>Q		No	ClinGen ExAC gnomAD
CA402822680 rs752232490	1074	F>L		No	ClinGen ExAC gnomAD
CA402822688 rs1217609437	1076	S>R		No	ClinGen TOPMed gnomAD
rs770297611 CA9008521	1080	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs770297611 CA402822720	1080	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs746294926 CA9008520	1080	Y>H		No	ClinGen ExAC gnomAD
CA9008523 rs749790815	1081	V>M		No	ClinGen ExAC TOPMed gnomAD
CA9008525 rs774342732	1084	L>R		No	ClinGen ExAC TOPMed gnomAD
rs772344558 CA9008527	1085	A>T		No	ClinGen ExAC TOPMed gnomAD
CA9008528 rs773407508	1089	E>D		No	ClinGen ExAC gnomAD
CA402822833 rs1331147961	1093	I>T		No	ClinGen gnomAD
CA303749292 rs150952296	1095	R>T		No	ClinGen ESP
CA402822872 rs1352071899	1096	V>A		No	ClinGen TOPMed gnomAD
rs374137757 CA9008548	1096	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1287186222 CA402822887	1097	S>C		No	ClinGen gnomAD
CA303749294 rs947451606	1098	F>C		No	ClinGen TOPMed
CA402822916 rs1286149414	1099	G>V		No	ClinGen Ensembl
rs1208256615 CA402822943	1101	F>S		No	ClinGen gnomAD
rs200345406 CA9008550	1101	F>V		No	ClinGen ESP ExAC gnomAD
rs776333799 CA9008551	1102	L>V		No	ClinGen ExAC
CA303750522 rs1008411662	1103	D>E		No	ClinGen TOPMed gnomAD
CA9008575 rs768692652	1103	D>G		No	ClinGen ExAC TOPMed gnomAD
rs768692652 CA402823174	1103	D>V		No	ClinGen ExAC TOPMed gnomAD
CA402823176 rs1279731831	1104	V>I		No	ClinGen gnomAD
CA402823208 rs1394662699	1108	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1600529045 CA402823203	1108	T>P		No	ClinGen Ensembl
TCGA novel	1109	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs573183380 CA303750537	1110	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs573183380 CA9008578	1110	V>M		No	ClinGen ExAC gnomAD
CA9008579 rs750101491	1111	T>S		No	ClinGen ExAC gnomAD
rs1256277431 CA402823228	1112	F>L		No	ClinGen TOPMed gnomAD
rs1317403657 CA402823233	1112	F>S		No	ClinGen gnomAD
CA402823240 rs1199295379	1113	L>V		No	ClinGen gnomAD
rs760174839 CA9008580	1115	K>E		No	ClinGen ExAC TOPMed gnomAD
CA9008581 rs765618395	1117	S>L		No	ClinGen ExAC TOPMed gnomAD
CA402823304 rs1315208071	1118	A>V		No	ClinGen TOPMed
CA9008584 rs778250195	1121	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA402823345 rs1221785252	1122	V>D		No	ClinGen TOPMed
rs751651008 CA9008585	1123	S>G		No	ClinGen ExAC gnomAD
CA402823378 rs1356861351	1125	L>F		No	ClinGen gnomAD
CA9008586 rs562076453	1126	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1464975205 CA402823392	1126	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs780043412 CA9008591	1133	L>P		No	ClinGen ExAC gnomAD
CA402823485 rs1345864494	1134	R>K		No	ClinGen TOPMed
rs768778637 CA9008593	1135	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs768778637 CA402823494	1135	R>G		No	ClinGen ExAC TOPMed gnomAD
CA9008594 rs150079485	1135	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA9008596 rs138533776	1139	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs369585959 CA9008598	1141	S>N		No	ClinGen ESP ExAC gnomAD
rs763293989 CA9008601	1146	A>T		No	ClinGen ExAC gnomAD
rs764386443 CA9008602	1147	S>P		No	ClinGen ExAC gnomAD

No associated diseases with O43861

No regional properties for O43861

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for O43861

Functions

		Description
EC Number	7.6.2.1	Linked to the hydrolysis of a nucleoside triphosphate
Subcellular Localization	Golgi apparatus, trans-Golgi network membrane ; Multi-pass membrane protein	Efficient exit from the endoplasmic reticulum does not require TMEM30A, nor TMEM30B
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
endosome	A vacuole to which materials ingested by endocytosis are delivered.
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.
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
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.

3 GO annotations of biological process

Name	Definition
endocytosis	A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle.
phospholipid translocation	The movement of a phospholipid molecule from one leaflet of a membrane bilayer to the opposite leaflet.
retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	The directed movement of substances from the Golgi back to the endoplasmic reticulum, mediated by vesicles bearing specific protein coats such as COPI or COG.

7 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P40527	NEO1	Probable phospholipid-transporting ATPase NEO1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
O43520	ATP8B1	Phospholipid-transporting ATPase IC	Homo sapiens (Human)	EV
P98198	ATP8B2	Phospholipid-transporting ATPase ID	Homo sapiens (Human)	PR
Q8TF62	ATP8B4	Probable phospholipid-transporting ATPase IM	Homo sapiens (Human)	PR
Q9Y2Q0	ATP8A1	Phospholipid-transporting ATPase IA	Homo sapiens (Human)	PR
Q9P241	ATP10D	Phospholipid-transporting ATPase VD	Homo sapiens (Human)	PR
F1Q4S1	atp9b	Probable phospholipid-transporting ATPase IIB	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MADQIPLYPV	RSAAAAAANR	KRAAYYSAAG	PRPGADRHSR	YQLEDESAHL	DEMPLMMSEE
70	80	90	100	110	120
GFENEESDYH	TLPRARIMQR	KRGLEWFVCD	GWKFLCTSCC	GWLINICRRK	KELKARTVWL
130	140	150	160	170	180
GCPEKCEEKH	PRNSIKNQKY	NVFTFIPGVL	YEQFKFFLNL	YFLVISCSQF	VPALKIGYLY
190	200	210	220	230	240
TYWAPLGFVL	AVTMTREAID	EFRRFQRDKE	VNSQLYSKLT	VRGKVQVKSS	DIQVGDLIIV
250	260	270	280	290	300
EKNQRIPSDM	VFLRTSEKAG	SCFIRTDQLD	GETDWKLKVA	VSCTQQLPAL	GDLFSISAYV
310	320	330	340	350	360
YAQKPQMDIH	SFEGTFTRED	SDPPIHESLS	IENTLWASTI	VASGTVIGVV	IYTGKETRSV
370	380	390	400	410	420
MNTSNPKNKV	GLLDLELNRL	TKALFLALVA	LSIVMVTLQG	FVGPWYRNLF	RFLLLFSYII
430	440	450	460	470	480
PISLRVNLDM	GKAVYGWMMM	KDENIPGTVV	RTSTIPEELG	RLVYLLTDKT	GTLTQNEMIF
490	500	510	520	530	540
KRLHLGTVSY	GADTMDEIQS	HVRDSYSQMQ	SQAGGNNTGS	TPLRKAQSSA	PKVRKSVSSR
550	560	570	580	590	600
IHEAVKAIVL	CHNVTPVYES	RAGVTEETEF	AEADQDFSDE	NRTYQASSPD	EVALVQWTES
610	620	630	640	650	660
VGLTLVSRDL	TSMQLKTPSG	QVLSFCILQL	FPFTSESKRM	GVIVRDESTA	EITFYMKGAD
670	680	690	700	710	720
VAMSPIVQYN	DWLEEECGNM	AREGLRTLVV	AKKALTEEQY	QDFESRYTQA	KLSMHDRSLK
730	740	750	760	770	780
VAAVVESLER	EMELLCLTGV	EDQLQADVRP	TLEMLRNAGI	KIWMLTGDKL	ETATCIAKSS
790	800	810	820	830	840
HLVSRTQDIH	IFRQVTSRGE	AHLELNAFRR	KHDCALVISG	DSLEVCLKYY	EHEFVELACQ
850	860	870	880	890	900
CPAVVCCRCS	PTQKARIVTL	LQQHTGRRTC	AIGDGGNDVS	MIQAADCGIG	IEGKEGKQAS
910	920	930	940	950	960
LAADFSITQF	RHIGRLLMVH	GRNSYKRSAA	LGQFVMHRGL	IISTMQAVFS	SVFYFASVPL
970	980	990	1000	1010	1020
YQGFLMVGYA	TIYTMFPVFS	LVLDQDVKPE	MAMLYPELYK	DLTKGRSLSF	KTFLIWVLIS
1030	1040	1050	1060	1070	1080
IYQGGILMYG	ALVLFESEFV	HVVAISFTAL	ILTELLMVAL	TVRTWHWLMV	VAEFLSLGCY
1090	1100	1110	1120	1130	1140
VSSLAFLNEY	FGIGRVSFGA	FLDVAFITTV	TFLWKVSAIT	VVSCLPLYVL	KYLRRKLSPP

SYCKLAS