AiPD: Autoinhibited Protein Database

Q96QB1-1

Gene name	DLC1 (ARHGAP7, KIAA1723, STARD12)
Protein name	Rho GTPase-activating protein 7
Names	Deleted in liver cancer 1 protein, DLC-1, HP protein, Rho-type GTPase-activating protein 7, START domain-containing protein 12, StARD12, StAR-related lipid transfer protein 12
Species	Homo sapiens (Human)
KEGG Pathway	hsa:10395
EC number
Protein Class

Descriptions

DLC1 encodes a Rho GTPase-activating protein (RhoGAP) and negative regulator of specific Rho family proteins (RhoA-C and Cdc42). DLC1 is a multi-domain protein, with the RhoGAP catalytic domain flanked by an amino-terminal sterile motif (SAM) and a carboxyl-terminal START domain. In a study with DLC1 isoform 1, truncation of SAM domain activates RhoGAP catalytic domain. Thus, corresponding site may function as an autoinhibitory region.

Autoinhibitory domains (AIDs)

Target domain	1078-1284 (Rho-GAP domain)
Relief mechanism	Cleavage
Assay	Deletion assay

AID

448-515 (SAM domain)

Target domain

1078-1284 (Rho-GAP domain)

Relief mechanism

Cleavage (Removal of residues of 1-609 or 1-439)

Assay

Deletion assay

Accessory elements

No accessory elements

References

Kim TY et al. (2008) "Effects of structure of Rho GTPase-activating protein DLC-1 on cell morphology and migration", The Journal of biological chemistry, 283, 32762-70

Autoinhibited structure

Activated structure

7 structures for Q96QB1-1

Entry ID	Method	Resolution	Chain	Position	Source
2DKY	NMR	-	A	451-515	PDB
2GYT	NMR	-	A	451-513	PDB
2KAP	NMR	-	A	454-513	PDB
2LOZ	NMR	-	B	811-824	PDB
3KUQ	X-ray	230 A	A	1074-1283	PDB
5FZT	X-ray	210 A	B	904-926	PDB
AF-Q96QB1-F1	Predicted				AlphaFoldDB

1152 variants for Q96QB1-1

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA370348952 rs1303000329 RCV000709685	41	Q>S	Neural tube defect [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA370345676 rs1563593163 RCV000709686	356	V>*	Neural tube defect [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA250532 VAR_014231 RCV000006053 rs121908500	959	T>A	Carcinoma of colon [ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs565704406 CA4639019	4	A>R		No	ClinGen 1000Genomes ExAC gnomAD
CA172239423 rs989693215	6	R>L		No	ClinGen Ensembl
CA4639016 rs371420134	7	K>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1296608650 CA370350902	12	E>A		No	ClinGen gnomAD
CA370350891 rs1400383849	13	H>*		No	ClinGen gnomAD
rs781512930 CA4638978	14	V>T		No	ClinGen ExAC TOPMed gnomAD
rs1300221584 CA370349771	16	H>S		No	ClinGen TOPMed
rs960116989 CA172218871	18	M>K		No	ClinGen Ensembl
CA4638976 rs201237987	19	G>T		No	ClinGen 1000Genomes ExAC gnomAD
rs201727758 CA172218863	19	G>V		No	ClinGen 1000Genomes
rs757712242 CA4638973	24	S>L		No	ClinGen ExAC TOPMed gnomAD
CA4638974 rs757712242	24	S>Q		No	ClinGen ExAC TOPMed gnomAD
CA4638975 rs780267682	24	S>W		No	ClinGen ExAC gnomAD
CA4638972 rs765288401	25	D>P		No	ClinGen ExAC gnomAD
CA172218817 rs765288401	25	D>T		No	ClinGen ExAC gnomAD
rs757243126 CA4638971	25	D>V		No	ClinGen ExAC gnomAD
CA370349655 rs1452668109	27	R>A		No	ClinGen gnomAD
CA4638970 rs753730067	29	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1392752966 CA370349625	30	A>P		No	ClinGen TOPMed gnomAD
rs146824981 CA4638969	31	C>F		No	ClinGen ESP ExAC gnomAD
rs1211600892 CA370349605	32	H>T		No	ClinGen TOPMed
rs1310193012 CA370349581	34	G>V		No	ClinGen gnomAD
rs962049442 CA172218795	35	L>F		No	ClinGen Ensembl
rs760431377 CA370349554	36	V>D		No	ClinGen ExAC TOPMed gnomAD
CA4638937 rs779195730	40	L>L		No	ClinGen ExAC gnomAD
rs1303000329 CA370348951	41	Q>T		No	ClinGen gnomAD
CA4638934 rs200557469	43	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA4638933 rs756025652	44	M>S		No	ClinGen ExAC gnomAD
CA370348929 rs756025652	44	M>T		No	ClinGen ExAC gnomAD
rs376044889 CA4638932	46	K>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs781008100 CA4638931	48	A>E		No	ClinGen ExAC gnomAD
CA370348905 rs1377590473	48	A>M		No	ClinGen TOPMed
rs1293487100 CA370348892	50	L>G		No	ClinGen TOPMed
CA4638930 rs372899086	50	L>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA172213648 rs965780624	51	N>D		No	ClinGen Ensembl
rs1261333481 CA370348874	52	V>E		No	ClinGen gnomAD
rs1261333481 CA370348875	52	V>E		No	ClinGen gnomAD
CA172213633 rs1056930258	55	K>H		No	ClinGen TOPMed
rs751197729 CA4638929	55	K>V		No	ClinGen ExAC TOPMed gnomAD
CA370348841 rs1233460148	57	K>G		No	ClinGen TOPMed
rs1030627019 CA172213622	58	C>D		No	ClinGen TOPMed gnomAD
CA370348833 rs1030627019	58	C>V		No	ClinGen TOPMed gnomAD
rs148781138 CA4638927	59	V>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1203108397 CA370348831	59	V>V		No	ClinGen gnomAD
CA370348804 rs1259850080	63	D>Y		No	ClinGen gnomAD
CA370348401 rs1365657331	65	C>C		No	ClinGen gnomAD
CA370348399 COSM4148820 rs770811867	65	C>H	pancreas [Cosmic]	No	ClinGen cosmic curated gnomAD
rs770811867 CA172201213	65	C>L		No	ClinGen gnomAD
CA4638903 rs767848036	68	S>A		No	ClinGen ExAC gnomAD
rs1267959690 CA370348370	70	L>T		No	ClinGen gnomAD
CA370348365 rs1211432468	71	R>Q		No	ClinGen gnomAD
CA16618598 rs1064795440 RCV000481428	73	F>V		No	ClinGen ClinVar dbSNP gnomAD
rs774804174 CA4638901	76	R>R		No	ClinGen ExAC gnomAD
rs1258506184 CA370348314	78	M>A		No	ClinGen gnomAD
CA172201201 rs746483730	80	H>N		No	ClinGen Ensembl
CA370348290 rs1237684969	81	L>L		No	ClinGen gnomAD
rs1302501700 CA370348287	82	S>Y		No	ClinGen gnomAD
COSM1569200 rs1343974787 CA370348280	83	K>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs922865587 CA172201200	83	K>W		No	ClinGen gnomAD
CA370348268 rs1420586882	85	V>*		No	ClinGen TOPMed gnomAD
CA370348269 rs1420586882	85	V>G		No	ClinGen TOPMed gnomAD
CA4638898 rs773232276	85	V>Q		No	ClinGen ExAC TOPMed gnomAD
CA4638864 rs780647314	86	D>N		No	ClinGen ExAC gnomAD
CA4638862 rs556640543	88	N>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs556640543 CA370348135	88	N>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA172198993 rs867183876	91	H>G		No	ClinGen Ensembl
rs1399637305 CA370348106	91	H>K		No	ClinGen TOPMed
rs1417191034 CA370348089	92	E>G		No	ClinGen gnomAD
CA370348096 rs1411474941	92	E>Y		No	ClinGen gnomAD
CA4638861 rs765547395	94	E>S		No	ClinGen ExAC TOPMed gnomAD
CA4638860 rs761909901	95	D>Y		No	ClinGen ExAC gnomAD
CA4638859 rs754016987	96	Q>P		No	ClinGen ExAC gnomAD
rs1443410747 CA370348038	96	Q>V		No	ClinGen TOPMed gnomAD
rs895229680 CA172198958	97	F>F		No	ClinGen TOPMed gnomAD
CA370348033 rs895229680	97	F>L		No	ClinGen TOPMed gnomAD
CA4638858 rs764149459	97	F>M		No	ClinGen ExAC TOPMed gnomAD
CA4638857 rs760693044	98	L>G		No	ClinGen ExAC gnomAD
rs1440028217 CA370348011	99	S>D		No	ClinGen gnomAD
rs1010972177 CA172198951	100	L>N		No	ClinGen gnomAD
CA172198938 rs772641798	102	A>A		No	ClinGen gnomAD
rs1056530607 CA370347968	102	A>N		No	ClinGen TOPMed gnomAD
rs1056530607 CA172198923	102	A>S		No	ClinGen TOPMed gnomAD
rs775414268 CA4638856	103	S>L		No	ClinGen ExAC gnomAD
rs893490834 CA172198873	104	T>E		No	ClinGen Ensembl
rs1033818408 CA172198853	104	T>L		No	ClinGen Ensembl
rs376426804 CA4638855	106	T>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1382061083 CA370347870	109	H>K		No	ClinGen TOPMed gnomAD
rs1196719927 CA370347824	112	D>Q		No	ClinGen TOPMed
CA370347829 rs1315547380	112	D>W		No	ClinGen TOPMed gnomAD
rs1444344835 CA370347789	115	N>K		No	ClinGen gnomAD
rs546648938 CA370347753	117	A>E		No	ClinGen ExAC TOPMed gnomAD
CA172198843 rs546648938	117	A>E		No	ClinGen ExAC TOPMed gnomAD
rs773993191 CA4638853	117	A>V		No	ClinGen ExAC TOPMed gnomAD
CA4638851 rs538334326	118	D>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4638850 rs777483745	119	L>L		No	ClinGen ExAC TOPMed gnomAD
rs1161241397 CA370347715	120	C>F		No	ClinGen gnomAD
CA370347700 rs1380418184	121	L>Q		No	ClinGen gnomAD
CA370347705 rs1443508819	121	L>S		No	ClinGen gnomAD
CA370347689 rs1178424673	122	T>E		No	ClinGen gnomAD
rs769442790 CA4638849	123	D>H		No	ClinGen ExAC gnomAD
rs1471472526 CA370347668	123	D>P		No	ClinGen gnomAD
rs201661577 CA4638847	124	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs375115845 CA4638848	124	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA370347623 rs1358960482	126	Q>D		No	ClinGen gnomAD
CA370347631 rs1220601801	126	Q>I		No	ClinGen TOPMed gnomAD
CA370347630 rs1220601801	126	Q>L		No	ClinGen TOPMed gnomAD
rs149628772 CA4638846	129	N>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA172198775 rs147537968	130	T>A		No	ClinGen 1000Genomes
rs139415835 CA4638845	130	T>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs754077398 CA4638842	133	Q>C		No	ClinGen ExAC TOPMed gnomAD
rs754077398 CA370347525	133	Q>F		No	ClinGen ExAC TOPMed gnomAD
CA172198731 rs371470170	135	T>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs371470170 CA370347504	135	T>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA4638840 rs371470170	135	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA4638838 rs767536413	136	S>T		No	ClinGen ExAC gnomAD
rs1406464503 CA370347494	137	G>Y		No	ClinGen gnomAD
rs773001160 CA4638833	138	Q>D		No	ClinGen ExAC gnomAD
rs762750959 CA4638835	138	Q>R		No	ClinGen ExAC gnomAD
rs762750959 CA4638834	138	Q>S		No	ClinGen ExAC gnomAD
rs145901252 CA370347467	140	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs145901252 CA4638832	140	M>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs747711073 CA4638831	140	M>R		No	ClinGen ExAC TOPMed gnomAD
CA4638829 rs772702716	141	I>R		No	ClinGen ExAC gnomAD
rs776252355 CA4638830	141	I>T		No	ClinGen ExAC TOPMed
CA172198648 rs199716936	142	Q>R		No	ClinGen gnomAD
rs1224102610 CA370347454	143	G>D		No	ClinGen gnomAD
CA4638827 rs779422057	143	G>S		No	ClinGen ExAC gnomAD
CA4638826 rs757570932	144	A>K		No	ClinGen ExAC gnomAD
rs757570932 CA370347448	144	A>M		No	ClinGen ExAC gnomAD
CA172198633 rs904104551	144	A>P		No	ClinGen TOPMed
rs1362226500 CA370347445	145	G>P		No	ClinGen gnomAD
CA4638824 rs777996070	146	S>I		No	ClinGen ExAC gnomAD
COSM1203677 rs752811476 CA4638822	149	K>R	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs754998224 CA4638820	150	A>A		No	ClinGen ExAC
rs767485912 CA4638821	150	A>K		No	ClinGen ExAC gnomAD
rs751464406 CA4638819	151	L>C		No	ClinGen ExAC TOPMed gnomAD
rs762870802 CA4638817	151	L>H		No	ClinGen ExAC gnomAD
CA4638818 rs762870802	151	L>L		No	ClinGen ExAC gnomAD
CA370347405 rs762870802	151	L>P		No	ClinGen ExAC gnomAD
rs751464406 CA370347407	151	L>S		No	ClinGen ExAC TOPMed gnomAD
rs761554742 CA4638814	153	I>A		No	ClinGen ExAC gnomAD
CA370347385 rs1485005692	154	I>G		No	ClinGen gnomAD
rs370706558 CA172198564	154	I>L		No	ClinGen ESP
CA370347383 rs1361298062	155	Q>P		No	ClinGen TOPMed
CA370347371 rs957907749	157	N>F		No	ClinGen TOPMed gnomAD
CA172198552 rs957907749	157	N>I		No	ClinGen TOPMed gnomAD
CA370347372 rs957907749	157	N>L		No	ClinGen TOPMed gnomAD
CA4638809 rs749705851	158	Q>C		No	ClinGen ExAC gnomAD
CA4638808 rs749705851	158	Q>G		No	ClinGen ExAC gnomAD
rs1056583874 CA370347366 COSM1454823	158	Q>H	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA172198533 rs1056583874	158	Q>L		No	ClinGen TOPMed gnomAD
rs939401988 CA172198532	159	V>R		No	ClinGen TOPMed
CA370347351 rs1222703686	161	S>R		No	ClinGen gnomAD
rs188777551 CA4638807	162	N>N		No	ClinGen 1000Genomes ExAC gnomAD
CA172198530 rs1033353371 COSM1623598	162	N>R	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
CA172198508 rs550118820	163	S>A		No	ClinGen 1000Genomes ExAC gnomAD
CA4638806 rs550118820	163	S>P		No	ClinGen 1000Genomes ExAC gnomAD
rs970442477 CA172198504	164	W>S		No	ClinGen Ensembl
CA370347328 rs1212483117	164	W>V		No	ClinGen TOPMed gnomAD
CA172198481 rs907071542	166	I>F		No	ClinGen TOPMed gnomAD
CA4638803 rs755015848	166	I>H		No	ClinGen ExAC TOPMed gnomAD
CA172198477 rs528860221	167	A>A		No	ClinGen 1000Genomes TOPMed gnomAD
CA370347314 rs528860221	167	A>S		No	ClinGen 1000Genomes TOPMed gnomAD
CA370347296 rs561597944	169	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4638802 rs751617818	169	E>Y		No	ClinGen ExAC gnomAD
rs929788084 COSM3698829 CA172198473	170	T>V	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs375306792 CA4638797	171	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs753440066 CA4638796	171	E>L		No	ClinGen ExAC TOPMed gnomAD
rs375306792 CA4638798	171	E>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs371098007 CA4638794	172	L>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs371098007 CA4638792	172	L>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs371098007 CA4638793	172	L>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs763764390 CA4638795	172	L>S		No	ClinGen ExAC TOPMed gnomAD
rs1345313568 CA370347281	173	A>N		No	ClinGen TOPMed
CA4638790 rs773622309	173	A>R		No	ClinGen ExAC TOPMed gnomAD
rs770155030 CA370347278	174	L>K		No	ClinGen ExAC TOPMed gnomAD
CA4638789 rs770155030	174	L>Q		No	ClinGen ExAC TOPMed gnomAD
rs1418075955 CA370347268	175	V>G		No	ClinGen TOPMed gnomAD
CA4638788 rs748444186	175	V>N		No	ClinGen ExAC gnomAD
CA370347260 rs1234924468	176	K>G		No	ClinGen TOPMed
CA4638787 rs781298662	177	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1306577883 CA370347256	177	E>S		No	ClinGen gnomAD
CA370347258 rs1306577883	177	E>T		No	ClinGen gnomAD
rs781298662 CA370347254	177	E>V		No	ClinGen ExAC TOPMed gnomAD
rs1379882764 CA370347249	178	S>I		No	ClinGen gnomAD
CA370347253 rs1247578694	178	S>P		No	ClinGen gnomAD
CA370347251 rs1247578694	178	S>S		No	ClinGen gnomAD
CA172198404 rs995104495	179	G>L		No	ClinGen Ensembl
CA172198423 rs995104495	179	G>R		No	ClinGen Ensembl
rs1048414681 CA172198431	179	G>S		No	ClinGen gnomAD
CA370347247 rs1048414681	179	G>T		No	ClinGen gnomAD
CA4638785 rs780178178	180	E>G		No	ClinGen ExAC TOPMed gnomAD
rs375103328 CA4638783	180	E>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA370347244 rs375103328 COSM1096059	180	E>Q	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA4638784 COSM3395103 rs780178178	180	E>W	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs750401501 CA4638781	181	R>N		No	ClinGen ExAC gnomAD
rs1219488004 CA370347231	182	K>K		No	ClinGen TOPMed
rs1030667853 CA172198354	183	V>C		No	ClinGen TOPMed gnomAD
rs1030667853 CA370347226	183	V>Y		No	ClinGen TOPMed gnomAD
rs778928186 CA4638780	184	T>I		No	ClinGen ExAC gnomAD
CA4638779 rs757153160	185	D>V		No	ClinGen ExAC gnomAD
rs763706656 CA4638777	186	S>I		No	ClinGen ExAC TOPMed gnomAD
rs763706656 CA172198345	186	S>N		No	ClinGen ExAC TOPMed gnomAD
CA370347210 rs763706656	186	S>T		No	ClinGen ExAC TOPMed gnomAD
CA172198341 rs760347660	187	I>F		No	ClinGen ExAC TOPMed gnomAD
rs760347660 CA4638776	187	I>L		No	ClinGen ExAC TOPMed gnomAD
CA370347200 rs1252509016	188	S>Y		No	ClinGen gnomAD
rs145626397 CA4638775	189	K>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1408283022 CA370347180	191	L>N		No	ClinGen TOPMed
CA370347167 rs1162166011	193	L>V		No	ClinGen TOPMed
rs773710263 CA4638772	194	C>G		No	ClinGen ExAC gnomAD
CA370347161 rs1356790953	194	C>T		No	ClinGen gnomAD
rs770244943 CA370347153	195	N>D		No	ClinGen ExAC TOPMed gnomAD
rs1339520875 CA370347156	195	N>S		No	ClinGen gnomAD
CA4638771 rs770244943	195	N>V		No	ClinGen ExAC TOPMed gnomAD
rs200394870 CA172198303	197	I>N		No	ClinGen ESP ExAC
rs200394870 CA4638768	197	I>Y		No	ClinGen ESP ExAC
rs780367229 CA4638766	198	S>E		No	ClinGen ExAC TOPMed gnomAD
rs1563596107 CA370347132	198	S>V		No	ClinGen Ensembl
CA370347129 rs1448751672	199	L>P		No	ClinGen TOPMed
rs745905826 CA4638764	200	S>L		No	ClinGen ExAC TOPMed gnomAD
CA370347120 rs1407065303	200	S>S		No	ClinGen gnomAD
CA370347122 rs1304097061	200	S>V		No	ClinGen gnomAD
CA370347116 rs1355922344	201	E>D		No	ClinGen TOPMed
rs533131857 CA172198263	201	E>R		No	ClinGen ExAC gnomAD
CA4638763 rs533131857	201	E>S		No	ClinGen ExAC gnomAD
CA370347105 rs1231643604	203	K>M		No	ClinGen gnomAD
rs1585617641 CA370347102	203	K>P		No	ClinGen Ensembl
CA370347084 rs1369708969	206	P>R		No	ClinGen gnomAD
rs1585617592 CA370347081	207	K>Q		No	ClinGen Ensembl
CA4638760 rs777616383	207	K>R		No	ClinGen ExAC gnomAD
rs1035009328 CA172198254	208	V>Q		No	ClinGen TOPMed gnomAD
CA4638759 rs755776236	209	N>R		No	ClinGen ExAC TOPMed gnomAD
CA370347068 rs1443647926	209	N>V		No	ClinGen gnomAD
CA370347057 rs1489725804	211	V>G		No	ClinGen gnomAD
rs1267645729 CA370347046	212	D>S		No	ClinGen gnomAD
CA4638758 rs752406095	214	L>L		No	ClinGen ExAC TOPMed gnomAD
rs1047811187 CA172198242	215	N>G		No	ClinGen TOPMed
rs371028812 CA4638757	215	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA172198241 rs371028812	215	N>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA370347018 rs1415378250	216	V>I		No	ClinGen TOPMed
CA172198214 rs143161954	216	V>L		No	ClinGen 1000Genomes ExAC TOPMed
rs143161954 CA4638755	216	V>V		No	ClinGen 1000Genomes ExAC TOPMed
CA4638752 rs762350131	219	I>Y		No	ClinGen ExAC TOPMed gnomAD
CA370346988 rs1225670392	220	A>D		No	ClinGen TOPMed gnomAD
CA370346990 rs1398046997	220	A>G		No	ClinGen TOPMed
rs776919335 CA4638751	222	E>S		No	ClinGen ExAC gnomAD
rs1382870316 CA370346972	223	K>P		No	ClinGen gnomAD
CA172198155 rs1038717148	226	L>N		No	ClinGen TOPMed
rs760883329 CA4638749	227	N>M		No	ClinGen ExAC TOPMed gnomAD
CA370346942 rs760883329	227	N>R		No	ClinGen ExAC TOPMed gnomAD
COSM181152 CA370346939 rs1218116906	228	S>C	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA4638747 rs369369638	228	S>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs369369638 CA172198118	228	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA4638746 rs139778805	229	A>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA172198096 rs139778805	229	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs544571302 CA4638744	229	A>R		No	ClinGen 1000Genomes ExAC gnomAD
rs774546531 CA4638745	229	A>T		No	ClinGen ExAC gnomAD
rs777509606 CA4638742	231	I>M		No	ClinGen ExAC gnomAD
CA4638739 rs574001055	233	Q>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs375672644 CA4638740	233	Q>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs751109531 CA370346899	235	R>D		No	ClinGen ExAC TOPMed gnomAD
CA4638738 rs754603207	235	R>K		No	ClinGen ExAC gnomAD
rs765861510 CA370346893	236	R>N		No	ClinGen ExAC gnomAD
rs1024655533 CA172198063	236	R>R		No	ClinGen gnomAD
CA4638736 rs765861510	236	R>T		No	ClinGen ExAC gnomAD
CA172198058 rs923704659	237	K>V		No	ClinGen TOPMed gnomAD
rs1192310524 CA370346887	238	P>Q		No	ClinGen TOPMed
CA370346878 rs950850536	239	D>F		No	ClinGen TOPMed gnomAD
rs950850536 CA172198017	239	D>V		No	ClinGen TOPMed gnomAD
rs754376429 CA4638734	240	P>E		No	ClinGen ExAC TOPMed gnomAD
rs754376429 CA370346874	240	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs764469773 CA4638733	240	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1026482909 CA370346865	241	P>N		No	ClinGen TOPMed
rs1335885407 CA370346868	241	P>R		No	ClinGen TOPMed
rs1026482909 CA172198001	241	P>T		No	ClinGen TOPMed
rs1468144109 CA370346856	242	K>F		No	ClinGen TOPMed gnomAD
CA370346844 rs1168276167	244	E>R		No	ClinGen gnomAD
CA4638732 rs372624194	244	E>Y		No	ClinGen ESP ExAC gnomAD
CA370346830 rs1563595239	246	E>Q		No	ClinGen Ensembl
CA370346822 rs1342425605	247	R>Y		No	ClinGen TOPMed
CA370346814 rs1476222470	248	S>*		No	ClinGen gnomAD
rs142931995 CA4638729	249	T>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA370346808 rs1370925924	249	T>T		No	ClinGen gnomAD
rs142931995 CA370346804	249	T>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA370346799 rs1206178501	250	C>L		No	ClinGen gnomAD
rs771051739 CA4638727	250	C>S		No	ClinGen ExAC TOPMed gnomAD
rs749258147 CA4638726	252	V>E		No	ClinGen ExAC gnomAD
rs1278448265 CA370346790	252	V>R		No	ClinGen gnomAD
rs555545699 CA4638725	253	V>M		No	ClinGen 1000Genomes ExAC gnomAD
CA370346781 rs1563595056	254	Q>R		No	ClinGen Ensembl
CA4638724 rs769567674	254	Q>V		No	ClinGen ExAC gnomAD
CA4638722 rs768363611	255	N>M		No	ClinGen ExAC gnomAD
CA370346773 rs1485835330	255	N>W		No	ClinGen TOPMed
CA4638720 rs746678425	258	L>G		No	ClinGen ExAC TOPMed gnomAD
CA4638718 rs757959648	259	D>E		No	ClinGen ExAC gnomAD
CA172197938 rs746121142	259	D>R		No	ClinGen gnomAD
CA4638715 rs377081345	261	P>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs767984120 CA4638713	263	T>H		No	ClinGen ExAC gnomAD
CA370346712 rs759918879	264	N>D		No	ClinGen ExAC gnomAD
CA370346711 rs1237358654	265	R>R		No	ClinGen gnomAD
rs1419380083 CA370346682	268	P>D		No	ClinGen TOPMed
CA370346684 rs1371666729	268	P>G		No	ClinGen TOPMed gnomAD
CA370346679 rs1439867473	269	L>K		No	ClinGen gnomAD
CA370346666 rs766468499	270	L>N		No	ClinGen ExAC gnomAD
rs763112842 CA4638709	271	K>V		No	ClinGen ExAC
rs372035885 CA172197884	273	D>E		No	ClinGen ESP TOPMed
CA4638708 rs773140696	274	F>R		No	ClinGen ExAC TOPMed gnomAD
CA172197867 rs573337345	275	G>D		No	ClinGen 1000Genomes
rs1039717448 CA172197862	276	S>F		No	ClinGen Ensembl
CA172197859 rs761734934	277	C>L		No	ClinGen ExAC gnomAD
CA4638706 rs761734934	277	C>M		No	ClinGen ExAC gnomAD
CA370346615 rs1226619785	279	L>L		No	ClinGen gnomAD
rs368110933 CA4638704	279	L>M		No	ClinGen ESP ExAC gnomAD
rs114637912 CA4638705 RCV000904659	279	L>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs199759496 CA4638702	280	Q>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA4638703 rs199759496	280	Q>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs945445914 CA172197848	283	S>D		No	ClinGen TOPMed gnomAD
rs771604823 CA4638701	283	S>T		No	ClinGen ExAC gnomAD
rs1563594604 CA370346560	285	P>K		No	ClinGen Ensembl
rs745427262 CA4638700	286	N>C		No	ClinGen ExAC gnomAD
CA4638698 rs142691117	286	N>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4638699 rs142691117	286	N>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA370346532 rs1413727387	288	M>S		No	ClinGen TOPMed gnomAD
rs755422865 CA4638695	289	S>F		No	ClinGen ExAC TOPMed gnomAD
rs755422865 CA4638696	289	S>I		No	ClinGen ExAC TOPMed gnomAD
rs868283074 CA172197824	290	A>L		No	ClinGen TOPMed
rs868283074 CA370346512	290	A>R		No	ClinGen TOPMed
CA4638693 rs766671618	291	E>I		No	ClinGen ExAC gnomAD
CA370346504 rs1181892363	291	E>T		No	ClinGen gnomAD
CA4638692 rs763052994	292	N>I		No	ClinGen ExAC gnomAD
CA4638691 rs140340878	293	G>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs765217960 CA370346462	294	L>N		No	ClinGen ExAC TOPMed gnomAD
rs765217960 CA4638690	294	L>N		No	ClinGen ExAC TOPMed gnomAD
rs936529614 CA172197783	295	E>W		No	ClinGen TOPMed gnomAD
CA4638689 rs761814712	296	K>I		No	ClinGen ExAC gnomAD
rs34941980 CA370346437	296	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1050940151 CA370346432	297	S>F		No	ClinGen TOPMed gnomAD
CA172197764 rs1050940151	297	S>I		No	ClinGen TOPMed gnomAD
rs981112483 CA172197762	298	G>P		No	ClinGen Ensembl
CA370346415 rs1365771910	299	F>D		No	ClinGen TOPMed
CA4638686 rs370401428	299	F>I		No	ClinGen ESP ExAC gnomAD
CA4638687 rs370401428	299	F>S		No	ClinGen ESP ExAC gnomAD
rs775118649 CA4638685	300	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs149472569 RCV000886071 CA4638683 RCV000239132	301	Q>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1443823431 CA370346393	301	Q>S		No	ClinGen TOPMed
CA4638680 rs748764118	302	H>H		No	ClinGen ExAC gnomAD
CA370346383 rs1445056267	302	H>P		No	ClinGen TOPMed
rs568082078 CA172197703	303	Q>N		No	ClinGen 1000Genomes gnomAD
CA370346368 rs1208616499	304	N>G		No	ClinGen gnomAD
CA370346311 rs1311845464	306	S>R		No	ClinGen TOPMed
CA4638678 rs755516316	307	P>N		No	ClinGen ExAC gnomAD
CA4638677 rs747438739	307	P>R		No	ClinGen ExAC gnomAD
CA370346270 rs758704546	308	P>R		No	ClinGen ExAC TOPMed gnomAD
CA4638676 rs758704546	308	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1563593972 CA370346261	309	K>E		No	ClinGen Ensembl
CA370346263 rs1563593972	309	K>K		No	ClinGen Ensembl
CA370346242 rs1211824684	310	V>A		No	ClinGen gnomAD
CA370346213 rs1218026821	311	K>D		No	ClinGen gnomAD
CA370346195 rs1176547360	312	A>S		No	ClinGen TOPMed
CA370346188 rs1563593853	313	E>G		No	ClinGen Ensembl
CA172197614 rs973580686	313	E>I		No	ClinGen Ensembl
CA370346164 rs1267358200	314	D>G		No	ClinGen gnomAD
CA172197611 rs112183774	314	D>N		No	ClinGen gnomAD
CA370346156 rs112183774	314	D>T		No	ClinGen gnomAD
rs760604715 CA370346142	315	G>E		No	ClinGen ExAC TOPMed gnomAD
CA4638666 rs760604715	315	G>G		No	ClinGen ExAC TOPMed gnomAD
rs764061122 CA4638667	315	G>T		No	ClinGen ExAC TOPMed gnomAD
CA370346140 rs760604715	315	G>V		No	ClinGen ExAC TOPMed gnomAD
CA370346138 rs1271442617	316	M>I		No	ClinGen gnomAD
rs201189821 CA4638663	318	C>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770655474 CA4638661	320	Q>N		No	ClinGen ExAC gnomAD
rs1174394407 CA370346081	322	K>I		No	ClinGen gnomAD
rs144923726 CA4638659	323	E>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs144923726 CA172197581	323	E>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA370346054 rs1447677222	324	T>M		No	ClinGen gnomAD
rs1447677222 CA370346056	324	T>T		No	ClinGen gnomAD
COSM325161 CA4638656 rs780552045	326	A>Q	lung liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
COSM1173381 rs747457472 CA4638657	326	A>W	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA4638655 rs758721577	327	T>G		No	ClinGen ExAC gnomAD
CA370346015 rs1209085644	328	Q>P		No	ClinGen gnomAD
rs746195574 CA4638654	329	E>C		No	ClinGen ExAC gnomAD
rs757442413 CA4638652	329	E>I		No	ClinGen ExAC gnomAD
CA4638653 rs757442413	329	E>T		No	ClinGen ExAC gnomAD
CA370346000 rs1225586869	330	P>T		No	ClinGen gnomAD
rs200152731 CA172197556	333	N>R		No	ClinGen Ensembl
CA4638650 rs564263815	334	Q>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1315109257 CA370345942	334	Q>W		No	ClinGen TOPMed gnomAD
rs756165020 CA4638649	335	V>M		No	ClinGen ExAC gnomAD
CA370345906 rs1451904420	337	L>T		No	ClinGen gnomAD
rs372929532 CA4638648	338	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1465801887 CA370345873	340	R>Q		No	ClinGen gnomAD
rs1170669658 CA370345822	344	R>S		No	ClinGen gnomAD
rs376194381 CA4638646	346	D>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA4638647 rs139243841	346	D>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA172197546 rs936491189	347	R>K		No	ClinGen gnomAD
rs751374855 CA4638645	348	D>A		No	ClinGen ExAC TOPMed gnomAD
CA4638644 rs766172478	348	D>L		No	ClinGen ExAC TOPMed gnomAD
CA370345742 rs1480814164	350	A>L		No	ClinGen gnomAD
CA4638642 rs563546689	351	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4638641 rs563546689	351	R>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA370345709 rs1563593242	353	D>L		No	ClinGen Ensembl
CA370345710 rs1563593242	353	D>M		No	ClinGen Ensembl
rs1474809233 CA370345695	354	S>A		No	ClinGen gnomAD
CA370345679 rs775883762	355	M>D		No	ClinGen ExAC gnomAD
rs1291954471 CA370345669	356	V>H		No	ClinGen gnomAD
rs373770104 CA172197482	356	V>R		No	ClinGen ESP TOPMed
CA172197467 rs1044924954	357	L>K		No	ClinGen Ensembl
rs772610710 CA4638638	357	L>S		No	ClinGen ExAC TOPMed gnomAD
CA370345646 rs1423006101	358	L>S		No	ClinGen TOPMed
rs746259994 CA4638637	359	I>Q		No	ClinGen ExAC
CA4638636 rs771203743	361	K>C		No	ClinGen ExAC TOPMed gnomAD
CA4638635 rs771203743	361	K>G		No	ClinGen ExAC TOPMed gnomAD
COSM1454819 CA4638634 rs755906883	361	K>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1484603625 CA370345585	362	L>D		No	ClinGen TOPMed gnomAD
rs750073514 CA172197436 COSM160439	362	L>K	NS [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs781037877 CA4638631	364	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs781037877 CA4638630	364	Q>N		No	ClinGen ExAC TOPMed gnomAD
CA370345558 rs1389227155	365	L>A		No	ClinGen Ensembl
rs754911384 CA4638629	367	Q>E		No	ClinGen ExAC gnomAD
rs766262406 CA4638628	368	D>K		No	ClinGen ExAC TOPMed gnomAD
CA4638627 rs766262406	368	D>M		No	ClinGen ExAC TOPMed gnomAD
CA370345489 rs1307956466	369	I>L		No	ClinGen TOPMed
rs202004535 CA4638626	371	N>H		No	ClinGen 1000Genomes ExAC gnomAD
CA4638625 rs138787411	372	A>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1232278061 CA370345433	372	A>V		No	ClinGen TOPMed
CA370345415 rs1486815510	373	L>L		No	ClinGen TOPMed
rs929669855 CA172197398	374	S>D		No	ClinGen TOPMed
CA370345321 rs761280048	378	S>L		No	ClinGen ExAC gnomAD
rs761280048 CA4638623	378	S>R		No	ClinGen ExAC gnomAD
CA4638622 rs200111766	379	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4638620 rs760077706	382	T>S		No	ClinGen ExAC TOPMed gnomAD
rs370034618 CA4638619	383	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA4638617 rs377054673	384	T>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA370345231 rs1174477487	384	T>V		No	ClinGen TOPMed
CA370345220 rs1585614015	385	N>F		No	ClinGen Ensembl
rs369660947 CA4638616	387	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1487194274 CA370345181	388	R>S		No	ClinGen TOPMed gnomAD
rs756727724 CA172197352	389	H>T		No	ClinGen gnomAD
CA4638615 rs770039533	390	V>Y		No	ClinGen ExAC gnomAD
rs954933186 CA172197323	392	D>L		No	ClinGen Ensembl
rs1226884750 CA370345131	392	D>S		No	ClinGen gnomAD
CA4638613 rs781330249	393	L>L		No	ClinGen ExAC gnomAD
rs780070353 CA4638610	395	S>S		No	ClinGen ExAC gnomAD
rs758299921 CA172197285	396	G>K		No	ClinGen ExAC gnomAD
rs1362578538 CA370345080	397	S>A		No	ClinGen TOPMed
CA172197281 COSM1203678 rs892478231	397	S>S	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA370345070 rs1386140048	398	E>C		No	ClinGen TOPMed
rs1585613745 CA370345040	401	A>R		No	ClinGen Ensembl
rs756928453 CA4638607	402	D>K		No	ClinGen ExAC TOPMed gnomAD
CA4638606 rs756928453	402	D>M		No	ClinGen ExAC TOPMed gnomAD
rs1156699676 CA370345013	403	T>M		No	ClinGen gnomAD
CA172197254 rs938179671	404	I>E		No	ClinGen TOPMed
CA4638603 rs201006364	405	S>R		No	ClinGen 1000Genomes ExAC gnomAD
CA4638600 rs371738249	407	N>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA370344972 rs1361336644	407	N>Y		No	ClinGen gnomAD
rs1266141965 CA370344960	408	Q>S		No	ClinGen gnomAD
rs769979555 CA4638598	409	T>R		No	ClinGen ExAC gnomAD
rs1486488777 CA370344931	410	R>D		No	ClinGen gnomAD
CA172197218 rs375096896	410	R>S		No	ClinGen Ensembl
rs1270526702 CA370344926	411	V>D		No	ClinGen gnomAD
rs1289713600 CA370344923	411	V>R		No	ClinGen gnomAD
CA370344911 rs1328954644	412	N>F		No	ClinGen gnomAD
CA370344908 rs1284301955	412	N>N		No	ClinGen gnomAD
rs776661253 CA4638596	414	S>P		No	ClinGen ExAC gnomAD
CA370344868 rs1382790646	415	S>M		No	ClinGen gnomAD
rs751013009 CA4638593	416	D>W		No	ClinGen ExAC gnomAD
CA370344853 rs1585613378	417	T>K		No	ClinGen Ensembl
rs201984211 CA4638592	419	S>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1046987046 CA172197143	421	D>H		No	ClinGen TOPMed gnomAD
rs374218921 CA4638590	422	L>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1376662211 CA370344802	422	L>R		No	ClinGen gnomAD
rs756941799 CA4638589	423	P>A		No	ClinGen ExAC gnomAD
rs753530293 CA4638588	423	P>L		No	ClinGen ExAC gnomAD
CA172197083 rs149156083	424	S>M		No	ClinGen ESP ExAC gnomAD
rs755638467 CA4638586	424	S>N		No	ClinGen ExAC gnomAD
rs149156083 CA4638587	424	S>R		No	ClinGen ESP ExAC gnomAD
CA4638585 rs752185721	427	P>N		No	ClinGen ExAC
rs370657152 CA4638584	428	V>S		No	ClinGen ESP ExAC gnomAD
CA172197077 rs763450150	429	A>G		No	ClinGen ExAC TOPMed gnomAD
rs763450150 CA4638583	429	A>S		No	ClinGen ExAC TOPMed gnomAD
rs773509091 CA4638582	430	N>S		No	ClinGen ExAC gnomAD
rs762018154 CA4638581	431	S>C		No	ClinGen ExAC TOPMed gnomAD
rs762018154 CA4638580	431	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs145263649 CA4638578	434	K>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145263649 CA370344731	434	K>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA172197041 rs763503528	435	P>I		No	ClinGen Ensembl
CA370344729 rs1367488314	435	P>V		No	ClinGen gnomAD
CA370344716 rs1323843166	436	K>R		No	ClinGen TOPMed
rs747125077 CA4638577	437	T>N		No	ClinGen ExAC gnomAD
rs745829430 CA4638575	438	T>H		No	ClinGen ExAC TOPMed gnomAD
rs745829430 CA4638574	438	T>P		No	ClinGen ExAC TOPMed gnomAD
rs1394022227 CA370344699	439	A>R		No	ClinGen gnomAD
CA370344694 rs1371531356	440	I>T		No	ClinGen TOPMed
rs748982688 CA4638571	441	Q>T		No	ClinGen ExAC gnomAD
CA172196979 rs181184098	441	Q>V		No	ClinGen 1000Genomes TOPMed
rs777534672 CA4638570	443	I>E		No	ClinGen ExAC gnomAD
COSM1250139 rs1431231918 CA370344677	443	I>N	oesophagus [Cosmic]	No	ClinGen cosmic curated gnomAD
CA172196958 rs755736254	445	E>L		No	ClinGen ExAC gnomAD
CA4638569 rs755736254	445	E>L		No	ClinGen ExAC gnomAD
rs752273862 CA4638568	446	K>L		No	ClinGen ExAC TOPMed gnomAD
CA4638566 rs754429142	447	E>D		No	ClinGen ExAC TOPMed gnomAD
rs140570414 CA172196912	450	E>V		No	ClinGen ESP gnomAD
CA4638564 rs765622304	451	I>C		No	ClinGen ExAC gnomAD
rs199517109 CA4638563	452	E>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4638562 rs754121366	453	A>I		No	ClinGen ExAC TOPMed gnomAD
CA370344602 rs764476923	455	E>E		No	ClinGen ExAC gnomAD
CA4638561 rs764476923	455	E>V		No	ClinGen ExAC gnomAD
CA370344594 rs1395104994	456	A>E		No	ClinGen Ensembl
rs1585612635 CA370344599	456	A>H		No	ClinGen Ensembl
rs1426268945 CA370344597	456	A>V		No	ClinGen gnomAD
CA4638559 rs546614468	458	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs546614468 CA172196842	458	D>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1408210813 CA370344581	459	W>Y		No	ClinGen TOPMed
CA172196825 rs200802778	460	L>P		No	ClinGen gnomAD
rs1422747829 CA370344570	461	R>K		No	ClinGen TOPMed
rs867282221 CA172196824	462	A>D		No	ClinGen Ensembl
CA4638558 rs772280518	463	T>K		No	ClinGen ExAC TOPMed gnomAD
rs774364380 CA4638556	465	F>T		No	ClinGen ExAC gnomAD
CA4638557 rs759492017	465	F>V		No	ClinGen ExAC TOPMed gnomAD
rs1563591197 CA370344522	468	Y>K		No	ClinGen Ensembl
rs1563591197 CA370344521	468	Y>Q		No	ClinGen Ensembl
rs1378662376 CA370344505	470	Q>G		No	ClinGen TOPMed
CA370344507 rs1424686075	470	Q>N		No	ClinGen TOPMed gnomAD
CA4638552 rs769496799	471	L>G		No	ClinGen ExAC gnomAD
rs777543836 CA4638553	471	L>N		No	ClinGen ExAC gnomAD
CA4638551 rs747814419	472	Y>V		No	ClinGen ExAC TOPMed gnomAD
CA4638550 rs780758841	475	F>Y		No	ClinGen ExAC gnomAD
CA370344461 rs1295134218	477	F>E		No	ClinGen TOPMed
CA172196795 rs781433478	478	P>E		No	ClinGen Ensembl
CA4638548 rs750985603	479	I>L		No	ClinGen ExAC gnomAD
CA370344439 rs1271388788	480	D>*		No	ClinGen TOPMed
CA370344440 rs1271388788	480	D>K		No	ClinGen TOPMed
CA172196788 rs1054905522	480	D>L		No	ClinGen TOPMed gnomAD
CA4638547 rs779524261 RCV000493414	481	I>P		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs779524261 CA370344432	481	I>Q		No	ClinGen ExAC TOPMed gnomAD
rs534330340 CA4638546	482	S>T		No	ClinGen 1000Genomes ExAC gnomAD
rs754286581 CA4638545	484	V>D		No	ClinGen ExAC gnomAD
CA370344417 rs754286581	484	V>Y		No	ClinGen ExAC gnomAD
rs764565080 CA370344404	485	K>H		No	ClinGen ExAC gnomAD
rs1474638010 CA370344392	487	E>A		No	ClinGen TOPMed
CA370344370 rs1585612052	490	F>V		No	ClinGen Ensembl
CA370344350 rs1185244885	493	R>K		No	ClinGen TOPMed
rs752995901 CA4638542	496	I>L		No	ClinGen ExAC gnomAD
CA370344317 rs144875903	497	E>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1351163088 CA370344310	498	A>L		No	ClinGen gnomAD
CA172196747 rs1046600031	499	L>P		No	ClinGen TOPMed
rs528367005 CA172196746	499	L>V		No	ClinGen TOPMed gnomAD
CA4638540 rs759706273	500	C>P		No	ClinGen ExAC TOPMed gnomAD
rs1563590562 CA370344301	501	R>N		No	ClinGen Ensembl
CA172196731 COSM3951280 rs377706311	502	R>L	lung [Cosmic]	No	ClinGen cosmic curated ESP TOPMed
rs919528950 CA370344285	503	L>A		No	ClinGen TOPMed gnomAD
rs570516248 CA4638538	503	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs919528950 CA172196725	503	L>G		No	ClinGen TOPMed gnomAD
CA4638537 rs762789951	505	T>A		No	ClinGen ExAC gnomAD
rs988403588 CA172196715	506	L>R		No	ClinGen Ensembl
rs141028457 CA4638533	507	N>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs141028457 CA4638534	507	N>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA4638535 rs769583423	507	N>T		No	ClinGen ExAC gnomAD
rs1485171499 CA370344253	509	C>C		No	ClinGen TOPMed
RCV000487248 CA16618597 rs1064795671	509	C>P		No	ClinGen ClinVar Ensembl dbSNP
rs1268634335 CA370344248	510	A>R		No	ClinGen gnomAD
rs746596129 CA4638531	510	A>S		No	ClinGen ExAC gnomAD
CA172196686 rs986212493	513	K>V		No	ClinGen TOPMed gnomAD
rs147130694 CA370344224	514	L>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA370344219 rs142520789	514	L>Q		No	ClinGen 1000Genomes ESP TOPMed
CA4638528 rs142520789	514	L>Q		No	ClinGen 1000Genomes ESP TOPMed
rs147130694 CA4638530	514	L>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA4638526 rs749815027	515	E>Q		No	ClinGen ExAC gnomAD
CA4638527 rs184157214	515	E>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1435069232 CA370344212	516	I>V		No	ClinGen TOPMed gnomAD
CA370344213 rs1272574380	516	I>Y		No	ClinGen gnomAD
rs976560938 CA172196656	517	S>M		No	ClinGen TOPMed gnomAD
CA370344189 rs1295261569	519	H>I		No	ClinGen gnomAD
CA370344186 rs1321856781	520	R>N		No	ClinGen gnomAD
CA370344178 rs1386982860	521	K>G		No	ClinGen gnomAD
rs148423187 CA4638523	522	R>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs148423187 CA4638522	522	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs369455521 CA4638521	523	S>I		No	ClinGen ESP ExAC gnomAD
rs1372016357 COSM1488996 CA370344162	524	D>H	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1399490763 CA370344163	524	D>S		No	ClinGen TOPMed
CA4638519 rs201102622	525	D>I		No	ClinGen ExAC gnomAD
CA4638518 rs201102622	525	D>N		No	ClinGen ExAC gnomAD
rs773166036 CA4638517	525	D>R		No	ClinGen ExAC gnomAD
rs201102622 CA172196611	525	D>T		No	ClinGen ExAC gnomAD
CA4638515 rs548168641	527	D>M		No	ClinGen 1000Genomes ExAC gnomAD
CA4638514 rs776380579	527	D>R		No	ClinGen ExAC gnomAD
CA370344140 rs1563589837	528	E>G		No	ClinGen Ensembl
CA4638512 rs746654371	528	E>H		No	ClinGen ExAC gnomAD
rs1020889796 CA172196579	531	P>S		No	ClinGen TOPMed
CA370344114 rs1346126746	532	C>S		No	ClinGen TOPMed
rs771512737 CA4638510	532	C>Y		No	ClinGen ExAC gnomAD
CA370344093 rs1585611067	535	S>K		No	ClinGen Ensembl
rs778468407 CA4638508	537	K>L		No	ClinGen ExAC gnomAD
rs778468407 CA370344079	537	K>R		No	ClinGen ExAC gnomAD
CA4638507 rs756654970	538	W>K		No	ClinGen ExAC gnomAD
CA370344065 rs1363561721	539	T>D		No	ClinGen gnomAD
CA370344058 rs1563589635	540	F>L		No	ClinGen Ensembl
CA370344061 rs1288670738	540	F>S		No	ClinGen gnomAD
rs1046930759 CA172196548	542	R>K		No	ClinGen TOPMed gnomAD
rs1046930759 CA370344051	542	R>Q		No	ClinGen TOPMed gnomAD
CA370344040 rs1361144715	543	D>T		No	ClinGen gnomAD
CA4638505 rs781401048	544	S>L		No	ClinGen ExAC TOPMed gnomAD
CA370344024 rs1585610840	546	R>G		No	ClinGen Ensembl
rs1447585421 CA370344018	546	R>S		No	ClinGen gnomAD
CA370344016 rs1193782272	547	W>W		No	ClinGen TOPMed
CA4638503 rs755315187	553	F>G		No	ClinGen ExAC gnomAD
rs758498084 CA4638500	557	S>K		No	ClinGen ExAC gnomAD
CA370343947 rs1342427888	558	P>C		No	ClinGen gnomAD
CA370343946 rs1342427888	558	P>F		No	ClinGen gnomAD
CA172196523 rs898453011	558	P>P		No	ClinGen Ensembl
rs1452378439 CA370343944	559	K>D		No	ClinGen TOPMed
rs1276164373 CA370343938	559	K>K		No	ClinGen gnomAD
CA370343936 rs1225475405	560	Q>G		No	ClinGen gnomAD
rs1389610861 CA370343919	560	Q>S		No	ClinGen TOPMed gnomAD
rs1163975604 CA370343917	561	D>D		No	ClinGen gnomAD
CA370343915 rs1472771996	561	D>P		No	ClinGen gnomAD
CA4638470 rs774092695	562	L>*		No	ClinGen ExAC gnomAD
rs770571815 CA370343910	562	L>L		No	ClinGen ExAC gnomAD
CA4638469 rs770571815	562	L>Q		No	ClinGen ExAC gnomAD
CA370343903 rs1267515120	564	P>G		No	ClinGen gnomAD
rs1308548930 CA370343899	564	P>I		No	ClinGen gnomAD
rs762515332 CA4638468	565	G>*		No	ClinGen ExAC gnomAD
CA370343893 rs762515332	565	G>S		No	ClinGen ExAC gnomAD
CA370343888 rs941450429	566	S>D		No	ClinGen gnomAD
CA172195783 rs941450429	566	S>N		No	ClinGen gnomAD
rs1213584089 CA370343880	567	P>G		No	ClinGen gnomAD
CA4638466 rs769186315	567	P>I		No	ClinGen ExAC gnomAD
rs985277201 CA172195774	568	D>C		No	ClinGen TOPMed
rs1226868001 CA370343856	570	S>N		No	ClinGen gnomAD
rs780462302 CA4638464	570	S>R		No	ClinGen ExAC gnomAD
rs201145872 CA4638462	573	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs772364624 CA4638463	573	K>W		No	ClinGen ExAC TOPMed gnomAD
CA370343826 rs1426115349	575	G>N		No	ClinGen TOPMed
CA370343825 rs1426115349	575	G>T		No	ClinGen TOPMed
rs138719404 CA4638461	576	P>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs138719404 CA4638460	576	P>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1325184327 CA370343813	577	S>S		No	ClinGen TOPMed gnomAD
CA370343798 rs1457682556	579	G>G		No	ClinGen gnomAD
CA370343803 rs1325706872	579	G>I		No	ClinGen TOPMed
CA370343788 rs1392698561	581	T>P		No	ClinGen TOPMed
CA172195754 rs146001186	583	M>F		No	ClinGen ESP TOPMed gnomAD
rs1325143155 CA370343773	583	M>M		No	ClinGen TOPMed
CA172195753 rs76075082	584	D>T		No	ClinGen Ensembl
CA172195751 rs976676083	586	S>R		No	ClinGen Ensembl
CA370343726 rs1156678537	590	E>H		No	ClinGen gnomAD
CA370343721 rs1585607646	591	V>R		No	ClinGen Ensembl
rs1237711035 CA370343688	596	S>Q		No	ClinGen TOPMed
rs767437679 CA4638455	602	S>V		No	ClinGen ExAC gnomAD
CA4638454 rs759342089	603	L>M		No	ClinGen ExAC TOPMed gnomAD
rs1418854859 CA370343632	605	S>V		No	ClinGen gnomAD
rs1251812818 CA370343617	607	A>D		No	ClinGen gnomAD
CA172195648 rs369956958	611	E>A		No	ClinGen ESP TOPMed
CA4638452 rs766083642	611	E>L		No	ClinGen ExAC gnomAD
rs762420787 CA4638451	612	D>C		No	ClinGen ExAC TOPMed gnomAD
rs762420787 CA370343586	612	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs563588933 CA4638450	613	A>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA370343565 rs1211351948	615	T>R		No	ClinGen TOPMed
CA370343558 rs1350259841	616	P>D		No	ClinGen gnomAD
rs751193651 CA4638449	617	R>C		No	ClinGen ExAC TOPMed gnomAD
CA370343542 rs1302746826	618	T>R		No	ClinGen gnomAD
CA4638447 rs570502670	618	T>T		No	ClinGen 1000Genomes ExAC gnomAD
CA4638424 rs150186144	621	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1189969437 CA370343507	622	I>S		No	ClinGen gnomAD
CA4638422 rs773244604	623	S>N		No	ClinGen ExAC gnomAD
rs749535080 CA4638423	623	S>R		No	ClinGen ExAC TOPMed gnomAD
CA370343500 rs749535080	623	S>T		No	ClinGen ExAC TOPMed gnomAD
rs769949995 CA4638421	624	V>I		No	ClinGen ExAC gnomAD
rs1193527976 CA370343491	624	V>L		No	ClinGen TOPMed
CA370343486 rs1484098903	625	C>T		No	ClinGen TOPMed gnomAD
CA370343477 rs1270958485	626	S>R		No	ClinGen gnomAD
rs1195231221 CA370343453	629	N>N		No	ClinGen TOPMed gnomAD
rs748132137 CA4638420	630	L>I		No	ClinGen ExAC gnomAD
CA4638419 rs781331714	631	A>L		No	ClinGen ExAC TOPMed gnomAD
rs781331714 CA370343443	631	A>Q		No	ClinGen ExAC TOPMed gnomAD
CA4638418 rs754936377	632	G>E		No	ClinGen ExAC gnomAD
rs1411254512 CA370343421	634	D>N		No	ClinGen TOPMed gnomAD
rs746867506 CA4638417	634	D>Q		No	ClinGen ExAC gnomAD
CA172192293 rs1025532807	635	D>E		No	ClinGen TOPMed
rs779984223 CA4638416	635	D>N		No	ClinGen ExAC TOPMed gnomAD
CA4638414 rs750120068	636	S>Q		No	ClinGen ExAC TOPMed gnomAD
CA4638415 rs758071775 COSM1250144	636	S>W	oesophagus central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1165381744 CA370343401	638	G>L		No	ClinGen TOPMed gnomAD
rs1563579562 CA370343385	640	L>A		No	ClinGen Ensembl
CA370343371 rs1417550376	642	S>L		No	ClinGen gnomAD
rs140952951 CA4638412	643	P>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs752787691 CA4638411	644	K>M		No	ClinGen ExAC TOPMed gnomAD
rs929705415 CA172192253	645	E>F		No	ClinGen TOPMed
CA172192256 rs929705415	645	E>I		No	ClinGen TOPMed
CA370343353 rs1216542830	646	L>S		No	ClinGen TOPMed
CA4638408 rs774780095	647	S>L		No	ClinGen ExAC TOPMed gnomAD
CA172192244 rs774780095	647	S>L		No	ClinGen ExAC TOPMed gnomAD
CA370343349 COSM1096042 rs774780095	647	S>M	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
COSM1319761 CA4638407 rs766774033	649	F>C	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA4638406 COSM1733111 rs544550072	649	F>H	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA4638405 rs544550072	649	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA370343331 rs1161987550	650	S>K		No	ClinGen Ensembl
CA172192195 rs1037857241	651	F>V		No	ClinGen gnomAD
CA172192191 rs143733431	652	S>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs762024872 CA4638403	653	M>L		No	ClinGen ExAC gnomAD
rs768774390 CA4638401	654	K>F		No	ClinGen ExAC gnomAD
rs1158034008 CA370343303	655	G>S		No	ClinGen TOPMed
rs746957518 CA4638400	656	H>E		No	ClinGen ExAC gnomAD
CA4638399 rs780099126	657	E>C		No	ClinGen ExAC gnomAD
CA4638397 rs745628579	657	E>N		No	ClinGen ExAC gnomAD
CA4638396 rs756851944	657	E>R		No	ClinGen ExAC TOPMed gnomAD
CA4638398 rs745628579	657	E>T		No	ClinGen ExAC gnomAD
CA4638394 rs200732432	658	K>V		No	ClinGen ExAC TOPMed gnomAD
rs755552305 CA4638392	660	A>E		No	ClinGen ExAC TOPMed gnomAD
CA370343264 rs1248507386	661	K>G		No	ClinGen TOPMed gnomAD
rs750331639 CA172192123	661	K>T		No	ClinGen Ensembl
rs1248507386 CA370343263	661	K>V		No	ClinGen TOPMed gnomAD
rs1191734515 CA370343262	662	S>L		No	ClinGen gnomAD
COSM1454815 CA4638390 rs763428774	663	K>*	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs750726000 CA4638388	663	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA370343234 rs762114408	666	S>L		No	ClinGen ExAC gnomAD
CA4638386 rs762114408	666	S>Q		No	ClinGen ExAC gnomAD
CA4638387 rs765563670	666	S>W		No	ClinGen ExAC TOPMed gnomAD
rs1585594779 CA370343229	667	L>S		No	ClinGen Ensembl
rs956773426 CA172192034	668	L>R		No	ClinGen TOPMed gnomAD
CA4638385 rs374997689	668	L>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA370343206 rs768862470	670	R>F		No	ClinGen ExAC TOPMed gnomAD
CA370343207 rs1300607129	670	R>W		No	ClinGen gnomAD
rs775545560 CA4638382 COSM1454814	671	M>E	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA4638383 rs775545560 COSM1454814	671	M>E	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs201384145 CA172192002	671	M>N		No	ClinGen 1000Genomes TOPMed gnomAD
rs1295322411 CA370343174	673	S>A		No	ClinGen gnomAD
rs752902971 CA4638343	674	L>W		No	ClinGen ExAC
CA370343165 rs1357632134	675	K>F		No	ClinGen gnomAD
rs1357632134 CA370343166	675	K>V		No	ClinGen gnomAD
rs767495848 CA4638342	676	L>L		No	ClinGen ExAC gnomAD
CA172191770 rs759618471	676	L>L		No	ClinGen ExAC TOPMed gnomAD
CA172191738 rs1127608	677	K>K		No	ClinGen Ensembl
COSM226190 CA172191731 rs867572567	679	S>L	NS [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1299961554 CA370343136	680	H>R		No	ClinGen gnomAD
rs1585593773 CA370343125	681	H>G		No	ClinGen Ensembl
rs766285712 CA4638339	682	S>M		No	ClinGen ExAC gnomAD
rs1465471066 CA370343115	683	K>A		No	ClinGen gnomAD
CA4638338 rs762780944	683	K>Y		No	ClinGen ExAC gnomAD
rs147918530 COSM181148 CA4638336	684	H>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1174911131 CA370343108	685	K>L		No	ClinGen gnomAD
CA370343104 rs1563578206	685	K>T		No	ClinGen Ensembl
CA370343092 rs1479955105	687	P>S		No	ClinGen gnomAD
rs868204118 CA172191660	687	P>V		No	ClinGen Ensembl
CA4638334 rs776281758 COSM1737207	689	K>C	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA4638333 rs768083195	689	K>H		No	ClinGen ExAC TOPMed gnomAD
rs746504213 CA370343072	690	L>H		No	ClinGen ExAC TOPMed gnomAD
rs746504213 CA4638332	690	L>H		No	ClinGen ExAC TOPMed gnomAD
rs369869681 CA4638331	693	I>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA370343053 rs1330010954	693	I>K		No	ClinGen gnomAD
CA370343044 rs1357885003	694	I>D		No	ClinGen gnomAD
rs1172090249 CA370343041	695	S>T		No	ClinGen TOPMed
rs192988550 CA4638330	696	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4638327 rs377159911	697	P>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs778292244 CA4638329	697	P>N		No	ClinGen ExAC gnomAD
CA370343027 rs377159911	697	P>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4638328 rs778292244	697	P>Y		No	ClinGen ExAC gnomAD
CA4638325 rs767728246	698	I>F		No	ClinGen ExAC TOPMed gnomAD
CA4638326 rs752890252	698	I>R		No	ClinGen ExAC TOPMed gnomAD
rs767728246 CA370343022	698	I>Y		No	ClinGen ExAC TOPMed gnomAD
rs372027498 CA4638323	700	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1457456960 CA370343008	700	Q>S		No	ClinGen gnomAD
rs201909353 CA172191603	702	G>K		No	ClinGen 1000Genomes TOPMed gnomAD
CA370342984 rs1418038577	704	D>E		No	ClinGen gnomAD
rs1267409661 CA370342980	704	D>R		No	ClinGen gnomAD
rs1585593233 CA370342971	705	E>F		No	ClinGen Ensembl
rs1394167779 CA370342969	706	E>P		No	ClinGen gnomAD
CA4638321 rs762869191	707	K>C		No	ClinGen ExAC TOPMed gnomAD
CA370342960 rs762869191	707	K>F		No	ClinGen ExAC TOPMed gnomAD
CA370342948 rs765021363	709	K>L		No	ClinGen ExAC TOPMed gnomAD
CA4638319 rs765021363	709	K>M		No	ClinGen ExAC TOPMed gnomAD
rs776171900 CA4638317	712	N>I		No	ClinGen ExAC TOPMed gnomAD
CA4638707 VAR_014229 rs1044092	712	N>S		No	ClinGen UniProt ExAC dbSNP gnomAD
CA370342927 rs1330120501	712	N>T		No	ClinGen TOPMed gnomAD
CA4638318 rs376835584	712	N>V		No	ClinGen ExAC gnomAD
CA172191553 rs144835895	713	C>Q		No	ClinGen ESP TOPMed
rs376491544 CA172191561	713	C>V		No	ClinGen ESP TOPMed
rs1467633733 CA370342908	715	E>R		No	ClinGen TOPMed
CA172191546 COSM1096038 rs889565704	718	A>*	NS endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1563577719 CA370342870	721	G>T		No	ClinGen Ensembl
rs760168644 CA4638315	724	I>V		No	ClinGen ExAC gnomAD
COSM181147 rs775125308 CA4638314	726	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs149873887 CA370342826	727	P>K		No	ClinGen ESP ExAC gnomAD
CA370342828 rs1368625253	727	P>S		No	ClinGen gnomAD
rs1386085181 CA370342820	728	M>I		No	ClinGen TOPMed
CA172191498 rs1020319520	728	M>N		No	ClinGen TOPMed gnomAD
rs371531369 CA4638311	728	M>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1300098745 CA370342816	729	V>F		No	ClinGen TOPMed
rs1300098745 CA370342817	729	V>V		No	ClinGen TOPMed
rs1386825345 COSM181146 CA370342807	730	R>L	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA370342793 rs1377765047	732	R>I		No	ClinGen gnomAD
CA370342798 rs1452590296	732	R>P		No	ClinGen gnomAD
rs201743769 CA172191497	733	S>S		No	ClinGen Ensembl
CA4638309 rs569906796	734	V>P		No	ClinGen 1000Genomes ExAC gnomAD
CA370342775 rs781312677	735	S>H		No	ClinGen ExAC gnomAD
CA4638308 rs781312677	735	S>H		No	ClinGen ExAC gnomAD
rs1393766506 CA370342776	735	S>R		No	ClinGen gnomAD
CA4638307 rs755227268	736	N>T		No	ClinGen ExAC gnomAD
CA4638306 rs751700838	738	T>E		No	ClinGen ExAC gnomAD
CA370342755 rs1485629588	738	T>H		No	ClinGen gnomAD
CA4638305 rs780122107	738	T>R		No	ClinGen ExAC gnomAD
rs758406529 CA4638304	739	Q>D		No	ClinGen ExAC TOPMed gnomAD
rs762399302 CA4638274	739	Q>F		No	ClinGen ExAC
CA370342697 rs1335302132	741	S>A		No	ClinGen gnomAD
CA370342700 COSM300280 rs1335302132	741	S>S	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA370342671 rs1585585270	743	S>A		No	ClinGen Ensembl
rs376042677 CA4638271	745	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1096036 CA4638270 rs747326042	745	S>H	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA370342648 rs747326042	745	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1327490118 CA370342627	747	S>H		No	ClinGen TOPMed gnomAD
RCV000963046 CA4638268 rs146051142	747	S>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1008427638 CA172186632	749	T>V		No	ClinGen TOPMed
CA4638266 rs779062493 COSM1673766	750	S>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1440860086 CA370342586	751	S>G		No	ClinGen TOPMed
rs1417355930 CA370342584	752	A>T		No	ClinGen gnomAD
CA4638263 rs777519572	753	V>T		No	ClinGen ExAC gnomAD
rs1231238228 CA370342558	754	S>I		No	ClinGen gnomAD
CA4638260 rs372894000	759	V>K		No	ClinGen ESP ExAC TOPMed gnomAD
COSM181145 rs1167251117 CA370342483	761	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs754667634 CA370342486	761	R>W		No	ClinGen ExAC gnomAD
CA370342474 rs1225089118	762	T>D		No	ClinGen gnomAD
CA4638257 rs1044093	762	T>G		No	ClinGen ExAC gnomAD
rs751118826 CA4638258	762	T>Q		No	ClinGen ExAC TOPMed gnomAD
CA172186553 rs1041682649	763	R>I		No	ClinGen TOPMed
CA4638256 rs762330691	764	S>M		No	ClinGen ExAC gnomAD
CA4638254 rs764564314	766	S>I		No	ClinGen ExAC gnomAD
CA4638252 rs775817123	767	A>V		No	ClinGen ExAC gnomAD
CA172186448 rs200397093	768	C>F		No	ClinGen ExAC gnomAD
CA4638251 rs200397093	768	C>V		No	ClinGen ExAC gnomAD
rs937480057 CA172186441	769	N>C		No	ClinGen Ensembl
CA4638250 rs746095054	770	K>L		No	ClinGen ExAC gnomAD
CA4638249 rs774396057	771	R>V		No	ClinGen ExAC gnomAD
rs370085276 CA172186426	772	V>N		No	ClinGen ESP TOPMed
rs142586910 CA370342380	772	V>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA172186417 rs201829040	773	G>N		No	ClinGen TOPMed gnomAD
rs1585584713 CA370342365	774	M>I		No	ClinGen Ensembl
CA370342349 rs1324393624	776	L>P		No	ClinGen Ensembl
rs777804142 CA4638246	777	E>D		No	ClinGen ExAC TOPMed gnomAD
rs200677979 CA4638243	778	G>E		No	ClinGen 1000Genomes ExAC
rs370207065 CA4638244	778	G>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1585584560 CA370342294	781	P>H		No	ClinGen Ensembl
rs1563572973 CA370342289	781	P>I		No	ClinGen Ensembl
CA370342242 rs1563572946	785	S>L		No	ClinGen Ensembl
rs142779460 CA4638240	786	T>P		No	ClinGen 1000Genomes ExAC gnomAD
rs1306320931 CA370342219	788	N>M		No	ClinGen TOPMed gnomAD
CA4638236 rs201136617	790	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4638235 rs201136617 COSM1454813	790	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
VAR_014230 rs532841 CA4638640	791	V>M		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA370342175 rs767895731	792	E>F		No	ClinGen ExAC gnomAD
CA370342173 rs767895731	792	E>F		No	ClinGen ExAC gnomAD
rs759769870 CA172186376	793	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs759769870 CA370342167	793	Q>G		No	ClinGen ExAC TOPMed gnomAD
rs759769870 CA4638233	793	Q>V		No	ClinGen ExAC TOPMed gnomAD
CA4638231 rs200392347	795	F>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA370342145 rs1171748042	796	K>F		No	ClinGen gnomAD
CA370342122 rs1311179706	798	R>R		No	ClinGen gnomAD
CA370342117 rs769938928	799	E>I		No	ClinGen ExAC gnomAD
rs769938928 CA4638228	799	E>V		No	ClinGen ExAC gnomAD
CA172186346 rs762299647 RCV000493474	802	P>V		No	ClinGen ClinVar dbSNP gnomAD
CA4638225 rs768598701	805	T>D		No	ClinGen ExAC gnomAD
CA4638226 rs781236191	805	T>Q		No	ClinGen ExAC TOPMed gnomAD
CA4638224 rs746762491	808	Y>P		No	ClinGen ExAC gnomAD
CA370342021 rs1277570021	809	I>S		No	ClinGen gnomAD
CA4638183 rs775455713	811	E>E		No	ClinGen ExAC TOPMed gnomAD
CA4638184 rs138181048	811	E>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs138181048 CA370341582	811	E>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs771782726 CA4638182	812	D>I		No	ClinGen ExAC gnomAD
rs1229565473 CA370341549	814	K>K		No	ClinGen TOPMed gnomAD
rs953675312 CA172185140	814	K>S		No	ClinGen TOPMed gnomAD
rs774032679 CA4638180	816	G>R		No	ClinGen ExAC gnomAD
rs1405036356 CA370341511	817	T>R		No	ClinGen TOPMed
rs201415336 CA4638178	818	F>F		No	ClinGen 1000Genomes ExAC gnomAD
rs770565965 CA370341508	818	F>M		No	ClinGen ExAC TOPMed gnomAD
rs770565965 CA370341506	818	F>V		No	ClinGen ExAC TOPMed gnomAD
CA4638176 rs755586282	819	P>D		No	ClinGen ExAC gnomAD
CA4638177 rs777276577	819	P>S		No	ClinGen ExAC gnomAD
CA4638174 rs780562308	822	L>E		No	ClinGen ExAC gnomAD
rs747502769 CA370341471	822	L>N		No	ClinGen ExAC gnomAD
CA4638175 rs747502769	822	L>Y		No	ClinGen ExAC gnomAD
CA172185075 rs1029353057	823	T>P		No	ClinGen TOPMed
rs758738189 CA4638173	824	N>R		No	ClinGen ExAC gnomAD
rs1262591881 CA370341432	825	G>Y		No	ClinGen gnomAD
CA172185066 rs998412328	826	S>V		No	ClinGen TOPMed
CA4638172 rs750789954	827	F>D		No	ClinGen ExAC TOPMed gnomAD
rs202080016 CA172185053	828	S>G		No	ClinGen Ensembl
rs757541826 CA4638170	828	S>K		No	ClinGen ExAC gnomAD
rs754044422 CA4638169	829	P>T		No	ClinGen ExAC gnomAD
rs764109507 CA4638168	830	S>V		No	ClinGen ExAC gnomAD
rs759392511 CA4638163	831	G>G		No	ClinGen ExAC TOPMed gnomAD
rs775333892 CA4638165	831	G>P		No	ClinGen ExAC TOPMed gnomAD
CA4638166 rs775333892	831	G>T		No	ClinGen ExAC TOPMed gnomAD
rs759392511 CA4638164	831	G>V		No	ClinGen ExAC TOPMed gnomAD
rs762600901 CA4638160	833	N>I		No	ClinGen ExAC gnomAD
rs770652171 CA370341333	833	N>P		No	ClinGen ExAC gnomAD
CA4638161 rs770652171	833	N>S		No	ClinGen ExAC gnomAD
rs769211247 CA4638158	837	N>D		No	ClinGen ExAC TOPMed gnomAD
rs769211247 CA370341290	837	N>G		No	ClinGen ExAC TOPMed gnomAD
rs769211247 CA370341289	837	N>V		No	ClinGen ExAC TOPMed gnomAD
rs780469871 CA4638156	841	G>T		No	ClinGen ExAC TOPMed gnomAD
rs772706028 CA4638155	841	G>V		No	ClinGen ExAC gnomAD
CA370341241 rs557012468	842	S>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4638153 rs557012468	842	S>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1030158960 CA370341227	843	F>F		No	ClinGen TOPMed gnomAD
CA172184972 rs757654030	843	F>W		No	ClinGen ExAC TOPMed gnomAD
rs1030158960 CA172184973	843	F>Y		No	ClinGen TOPMed gnomAD
rs1345569368 CA370341214	844	H>N		No	ClinGen gnomAD
CA370341218 rs1212946519	844	H>R		No	ClinGen gnomAD
CA4638151 rs754132256	846	P>V		No	ClinGen ExAC gnomAD
rs1327945498 CA370341177	848	H>R		No	ClinGen TOPMed gnomAD
rs760237717 CA4638120	849	I>I		No	ClinGen ExAC TOPMed
rs775033474 CA4638119	850	S>S		No	ClinGen ExAC TOPMed gnomAD
CA4638117 rs377705483 COSM749406	851	L>K	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs769983763 CA4638115	853	R>T		No	ClinGen ExAC gnomAD
CA4638116 rs773640003	853	R>V		No	ClinGen ExAC gnomAD
rs748431781 CA4638114	854	E>N		No	ClinGen ExAC gnomAD
rs781344948 CA370341098	855	N>*		No	ClinGen ExAC TOPMed gnomAD
CA4638112 rs200504821 COSM1132846	855	N>Q	prostate [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs997716985 CA172183950	856	S>G		No	ClinGen Ensembl
CA4638111 rs747060194 COSM77584	857	S>C	ovary large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
COSM160438 CA4638110 rs369441118	857	S>H	breast [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA370341086 rs369441118	857	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs745565680 CA172183924	859	S>C		No	ClinGen Ensembl
rs758346159 CA4638109	860	P>H		No	ClinGen ExAC gnomAD
COSM319900 CA4638108 rs750273886	861	K>S	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA370341057 rs1213029720	862	E>A		No	ClinGen gnomAD
CA4638106 rs756966085	862	E>K		No	ClinGen ExAC gnomAD
rs1206339012 CA370341051	863	L>E		No	ClinGen gnomAD
rs200118247 CA4638105	864	K>D		No	ClinGen ExAC TOPMed gnomAD
rs200118247 CA172183913	864	K>D		No	ClinGen ExAC TOPMed gnomAD
COSM1137823 CA370341015 rs1284562677	868	S>P	kidney [Cosmic]	No	ClinGen cosmic curated gnomAD
CA4638103 rs760325464	869	S>A		No	ClinGen ExAC TOPMed gnomAD
rs760325464 CA4638104	869	S>P		No	ClinGen ExAC TOPMed gnomAD
rs150404537 CA172183879	869	S>S		No	ClinGen ESP TOPMed
rs535433260 CA4638102	870	S>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1364815021 CA370341008	870	S>Q		No	ClinGen gnomAD
rs535433260 CA370341010	870	S>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA370340997 rs1305997625	872	M>P		No	ClinGen gnomAD
rs1009811696 CA172183874	872	M>V		No	ClinGen TOPMed gnomAD
rs143071249 CA4638100	873	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs143071249 CA4638099	873	S>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA370340989 rs1358689785	874	S>R		No	ClinGen TOPMed gnomAD
rs748440945 CA4638097	875	R>R		No	ClinGen ExAC TOPMed gnomAD
CA4638098 rs770217809	875	R>Y		No	ClinGen ExAC TOPMed gnomAD
rs142572997 CA4638096	876	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA370340970 rs1189200734	877	S>D		No	ClinGen gnomAD
rs1477507082 CA370340963	878	I>S		No	ClinGen gnomAD
rs146094242 CA4638093	879	Y>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4638094 rs747154020	879	Y>H		No	ClinGen ExAC gnomAD
rs1319513394 COSM1313710 CA370340940	881	N>L	urinary_tract [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1284679955 CA370340938	882	V>P		No	ClinGen gnomAD
rs1216525330 CA370340936	882	V>V		No	ClinGen gnomAD
CA4638092 rs201886146	883	P>E		No	ClinGen ExAC TOPMed gnomAD
rs1349157426 CA370340933	883	P>N		No	ClinGen gnomAD
rs745852207 CA4638091	885	S>E		No	ClinGen ExAC gnomAD
rs778690040 CA4638090	886	I>L		No	ClinGen ExAC TOPMed gnomAD
CA4638088 rs372242330	886	I>Q		No	ClinGen ESP ExAC gnomAD
CA370340901 rs1338715778	887	L>S		No	ClinGen TOPMed
rs528531898 CA4638085	890	S>G		No	ClinGen 1000Genomes ExAC gnomAD
CA4638086 rs61752025	890	S>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM454006 rs1056338432 CA172183779	891	S>F	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1415351295 CA370340876	891	S>R		No	ClinGen gnomAD
rs1056338432 CA370340874	891	S>Y		No	ClinGen gnomAD
CA4638083 rs758920737	893	D>G		No	ClinGen ExAC gnomAD
CA4638082 rs750990463	894	L>C		No	ClinGen ExAC gnomAD
CA172183756 rs553814058	895	A>M		No	ClinGen Ensembl
rs1563566444 CA370340833	897	L>N		No	ClinGen Ensembl
CA370340820 rs762305343	899	N>A		No	ClinGen ExAC TOPMed gnomAD
CA4638080 rs762305343	899	N>G		No	ClinGen ExAC TOPMed gnomAD
CA370340823 rs1182676846	899	N>I		No	ClinGen TOPMed
CA370340824 rs1182676846	899	N>L		No	ClinGen TOPMed
rs533745917 CA172183746	900	E>E		No	ClinGen Ensembl
rs776967869 CA4638079	900	E>R		No	ClinGen ExAC TOPMed gnomAD
rs768954929 CA4638078	901	D>G		No	ClinGen ExAC gnomAD
CA4638076 rs552461993	902	I>N		No	ClinGen 1000Genomes ExAC gnomAD
rs1442272121 CA370340794	903	F>C		No	ClinGen gnomAD
CA4638073 rs778972387	905	E>A		No	ClinGen ExAC TOPMed gnomAD
rs1460969937 CA370340783	905	E>C		No	ClinGen TOPMed
CA370340780 rs778972387	905	E>D		No	ClinGen ExAC TOPMed gnomAD
CA370340779 rs778972387	905	E>V		No	ClinGen ExAC TOPMed gnomAD
CA370340772 rs1469641557	906	L>*		No	ClinGen TOPMed
rs770756794 CA4638072	909	I>F		No	ClinGen ExAC TOPMed gnomAD
CA4638071 rs749179447	910	L>C		No	ClinGen ExAC TOPMed gnomAD
CA370340744 rs749179447	910	L>F		No	ClinGen ExAC TOPMed gnomAD
CA370340741 rs1585573208	911	Y>S		No	ClinGen Ensembl
CA4638069 rs139251311	912	H>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4638070 rs139251311	912	H>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4638067 rs563949878	914	K>K		No	ClinGen 1000Genomes ExAC
rs754558057 CA4638066	915	G>V		No	ClinGen ExAC gnomAD
CA4638065 rs751027595	917	Q>V		No	ClinGen ExAC gnomAD
CA4638061 rs368102879	918	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA4638059 rs191653546	919	I>C		No	ClinGen 1000Genomes ExAC gnomAD
CA172183683 rs191653546	919	I>F		No	ClinGen 1000Genomes ExAC gnomAD
rs1475935126 CA370340695	919	I>H		No	ClinGen gnomAD
rs976238538 CA172183679	921	N>T		No	ClinGen Ensembl
rs778306966 CA4638027	922	Q>L		No	ClinGen ExAC gnomAD
rs778306966 CA4638026	922	Q>M		No	ClinGen ExAC gnomAD
CA4638024 rs767802518	924	S>*		No	ClinGen ExAC TOPMed gnomAD
CA4638023 rs767802518	924	S>K		No	ClinGen ExAC TOPMed gnomAD
rs755319272 CA4638022	925	E>V		No	ClinGen ExAC gnomAD
rs1045775914 CA172181754	926	K>A		No	ClinGen Ensembl
CA370340438 rs1435164403	926	K>H		No	ClinGen gnomAD
rs1298793118 CA370340433	927	F>T		No	ClinGen TOPMed
CA172181748 rs949748420	929	D>K		No	ClinGen Ensembl
rs766676405 CA4638020	932	D>K		No	ClinGen ExAC gnomAD
rs1265343028 CA370340368	932	D>S		No	ClinGen gnomAD
CA370340350 rs1280819220	934	D>G		No	ClinGen gnomAD
CA4638018 rs142865083	934	D>L		No	ClinGen 1000Genomes ExAC gnomAD
CA4638017 rs765351913	935	S>T		No	ClinGen ExAC gnomAD
rs776594367 CA4638015	938	D>L		No	ClinGen ExAC gnomAD
CA370340314 rs1585566594	938	D>S		No	ClinGen Ensembl
rs1382435951 CA370340299	939	S>G		No	ClinGen gnomAD
CA4638014 rs768361039	940	V>A		No	ClinGen ExAC gnomAD
rs553999075 CA4638013	943	C>V		No	ClinGen 1000Genomes ExAC gnomAD
rs201002200 CA4638012	944	P>V		No	ClinGen 1000Genomes ExAC gnomAD
rs745461610 CA4638011	946	S>N		No	ClinGen ExAC gnomAD
CA4638010 rs745461610	946	S>N		No	ClinGen ExAC gnomAD
COSM1096032 rs778397065 CA4638009	947	P>C	large_intestine urinary_tract endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA4638008 RCV000481848 rs756715684	947	P>H		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs756715684 CA172181690	947	P>L		No	ClinGen ExAC TOPMed gnomAD
CA4638005 rs781708821	952	L>R		No	ClinGen ExAC gnomAD
CA172181676 rs964237226	953	D>R		No	ClinGen gnomAD
CA370340100 rs1487983995	956	N>G		No	ClinGen gnomAD
rs1258192114 CA370340090	957	D>E		No	ClinGen gnomAD
CA4638002 rs780481649	958	R>E		No	ClinGen ExAC TOPMed gnomAD
CA370340075 rs780481649	958	R>E		No	ClinGen ExAC TOPMed gnomAD
rs751949018 CA4638003	958	R>H		No	ClinGen ExAC gnomAD
CA370340083 rs751949018	958	R>Y		No	ClinGen ExAC gnomAD
rs765441468 CA4637999	962	S>L		No	ClinGen ExAC gnomAD
rs556430417 CA4637996	965	D>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1217526604 CA370339999	965	D>T		No	ClinGen gnomAD
CA4637995 COSM1454812 rs760440807	966	S>K	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA370339967 rs1485025279	967	T>M		No	ClinGen TOPMed
CA370339979 rs1398234612	967	T>V		No	ClinGen gnomAD
rs775273318 CA4637994	969	N>G		No	ClinGen ExAC gnomAD
rs759214687 CA4637992	970	S>N		No	ClinGen ExAC TOPMed gnomAD
CA4637991 rs773943214	972	N>S		No	ClinGen ExAC TOPMed gnomAD
CA370339876 rs770394943	976	E>H		No	ClinGen ExAC TOPMed gnomAD
CA370339880 COSM3412746 rs1168763457	976	E>R	central_nervous_system [Cosmic]	No	ClinGen cosmic curated gnomAD
rs758770323 CA4637989	978	S>F		No	ClinGen ExAC gnomAD
CA370339841 rs1417690043	979	E>R		No	ClinGen TOPMed
rs1255247377 CA370339827	980	I>S		No	ClinGen gnomAD
CA172181552 rs1010305420	981	P>N		No	ClinGen TOPMed gnomAD
CA370339793 rs1458904405	982	E>I		No	ClinGen gnomAD
rs1171299567 CA370339797	982	E>T		No	ClinGen TOPMed
rs201629826 CA4637988	983	R>G		No	ClinGen ExAC TOPMed gnomAD
CA370339788 rs1255814494	983	R>T		No	ClinGen TOPMed gnomAD
CA172181535 rs893241949	984	R>R		No	ClinGen Ensembl
rs769194393 CA4637987	986	S>R		No	ClinGen ExAC gnomAD
rs1247652716 CA370339744	987	G>S		No	ClinGen TOPMed gnomAD
rs1247652716 CA370339747	987	G>T		No	ClinGen TOPMed gnomAD
CA4637986 rs377127652 COSM85105	988	V>Q	pancreas endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1207579328 CA370339716	989	G>E		No	ClinGen TOPMed gnomAD
CA4637985 rs780573272	989	G>H		No	ClinGen ExAC TOPMed gnomAD
CA370339728 rs780573272	989	G>N		No	ClinGen ExAC TOPMed gnomAD
rs1448042745 CA370339724	989	G>V		No	ClinGen gnomAD
rs758798040 CA4637984	990	A>F		No	ClinGen ExAC TOPMed gnomAD
CA4637982 rs779257355	991	S>I		No	ClinGen ExAC TOPMed gnomAD
rs905738771 CA172181514	993	T>F		No	ClinGen Ensembl
rs753951132 CA4637980	993	T>S		No	ClinGen ExAC gnomAD
CA370339677 rs1165029770	993	T>V		No	ClinGen gnomAD
CA370338994 rs1427001721	995	S>I		No	ClinGen gnomAD
CA370338946 rs1477456191	998	H>A		No	ClinGen TOPMed gnomAD
rs149295187 VAR_014232 CA4638471	998	H>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA370338940 rs1423752887	998	H>S		No	ClinGen gnomAD
CA4637951 rs776183312	1000	L>V		No	ClinGen ExAC gnomAD
CA370338895 rs1261718722	1001	R>L		No	ClinGen gnomAD
rs772706017 CA4637950	1001	R>S		No	ClinGen ExAC gnomAD
rs967858255 CA172179587	1003	H>R		No	ClinGen TOPMed
rs146462979 CA172179582	1004	S>T		No	ClinGen ESP TOPMed gnomAD
rs746297066 CA4637949	1004	S>V		No	ClinGen ExAC TOPMed gnomAD
rs774778702 CA4637948	1005	F>Y		No	ClinGen ExAC gnomAD
CA172179569 rs374580879	1006	Q>G		No	ClinGen ESP TOPMed gnomAD
CA370338820 rs374580879	1006	Q>V		No	ClinGen ESP TOPMed gnomAD
CA370338767 rs1338498385	1010	R>S		No	ClinGen gnomAD
CA4637945 rs777832666	1014	N>D		No	ClinGen ExAC TOPMed gnomAD
rs1331900931 CA370338694	1015	S>G		No	ClinGen TOPMed gnomAD
CA4637943 rs748221571	1015	S>N		No	ClinGen ExAC TOPMed gnomAD
CA4637944 rs748221571	1015	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs781164210 CA4637942 COSM1096029	1016	V>C	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA4637941 rs187747257	1016	V>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA370338685 rs781164210	1016	V>S		No	ClinGen ExAC TOPMed gnomAD
rs367679746 CA4637939	1017	S>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4637938 rs367679746 COSM175814	1017	S>T	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs34723518 CA4637937	1018	L>H		No	ClinGen ExAC TOPMed gnomAD
CA370338653 rs34723518	1018	L>R		No	ClinGen ExAC TOPMed gnomAD
rs764769638 CA4637936	1019	Q>A		No	ClinGen ExAC
CA172179544 rs1003623335	1019	Q>M		No	ClinGen Ensembl
CA4637935 rs761485137	1021	N>D		No	ClinGen ExAC TOPMed gnomAD
rs1585557827 CA370338592	1022	C>G		No	ClinGen Ensembl
rs776272725 CA4637934	1022	C>L		No	ClinGen ExAC TOPMed gnomAD
CA370338560 rs1585557812	1024	S>G		No	ClinGen Ensembl
rs945085126 CA172179536	1027	Q>F		No	ClinGen TOPMed
rs760147836 CA4637932	1029	N>C		No	ClinGen ExAC
rs749582558 CA4637930	1030	L>S		No	ClinGen ExAC gnomAD
CA4637931 rs774668968	1030	L>T		No	ClinGen ExAC gnomAD
CA370338452 rs1401910398	1031	L>C		No	ClinGen TOPMed
CA4637928 rs200993763	1033	K>M		No	ClinGen ExAC TOPMed gnomAD
CA370338387 rs1316145192	1035	S>H		No	ClinGen gnomAD
CA16618596 rs1064795745 RCV000485680	1035	S>S		No	ClinGen ClinVar Ensembl dbSNP
rs1228838808 CA370338373 COSM181144	1036	L>S	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs769989227 CA4637927	1038	K>A		No	ClinGen ExAC gnomAD
CA370338337 rs1349216568	1038	K>L		No	ClinGen TOPMed
rs1377348928 CA370338329	1039	L>A		No	ClinGen gnomAD
CA370338330 rs1377348928	1039	L>E		No	ClinGen gnomAD
rs764810204 CA4637923	1043	L>V		No	ClinGen ExAC TOPMed gnomAD
CA370338299 rs1328478252	1044	E>A		No	ClinGen TOPMed gnomAD
rs1288891730 CA370338296	1044	E>S		No	ClinGen gnomAD
rs1406567615 CA370338286	1046	Y>L		No	ClinGen TOPMed gnomAD
rs1406567615 CA370338285	1046	Y>V		No	ClinGen TOPMed gnomAD
rs1286638724 CA370338277	1047	T>S		No	ClinGen TOPMed
rs779835941 CA4637922	1047	T>Y		No	ClinGen ExAC gnomAD
rs1464254415 CA370338203	1055	S>I		No	ClinGen TOPMed gnomAD
CA4637894 rs763374260	1057	A>D		No	ClinGen ExAC gnomAD
CA4637892 rs765612694	1060	K>A		No	ClinGen ExAC gnomAD
CA4637891 rs375663152	1060	K>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA4637890 rs375663152	1060	K>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs765612694 CA4637893	1060	K>P		No	ClinGen ExAC gnomAD
rs375663152 CA370338169	1060	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1268732608 CA370338168	1061	F>E		No	ClinGen TOPMed gnomAD
rs760869910 CA4637888	1063	K>S		No	ClinGen ExAC gnomAD
rs775450083 CA4637887	1064	R>V		No	ClinGen ExAC gnomAD
rs772128555 CA370338128	1066	K>F		No	ClinGen ExAC gnomAD
CA4637885 rs745810828	1068	P>G		No	ClinGen ExAC gnomAD
rs745810828 CA370338115	1068	P>V		No	ClinGen ExAC gnomAD
rs577242438 CA4637883	1069	D>T		No	ClinGen 1000Genomes ExAC gnomAD
CA370338107 rs1282207592	1070	Y>A		No	ClinGen gnomAD
rs749088237 CA4637882	1070	Y>K		No	ClinGen ExAC TOPMed gnomAD
CA370338102 rs1585555717	1071	K>I		No	ClinGen Ensembl
rs142253103 CA4637881	1072	D>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA172179142 rs1028490929	1074	S>F		No	ClinGen Ensembl
CA4637880 rs78322853	1074	S>M		No	ClinGen ExAC gnomAD
rs747768907 CA4637879 COSM181143	1075	V>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1585555659 CA370338077	1075	V>W		No	ClinGen Ensembl
rs373060484 CA370338074	1076	F>H		No	ClinGen gnomAD
rs373060484 CA172179109	1076	F>N		No	ClinGen gnomAD
COSM280403 CA172179105 rs996636332	1077	G>F	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
rs765704323 CA4637875	1079	P>G		No	ClinGen ExAC TOPMed gnomAD
CA4637873 rs754191945	1080	L>K		No	ClinGen ExAC gnomAD
CA4637874 rs757688223	1080	L>S		No	ClinGen ExAC gnomAD
rs1040580459 CA172179087	1081	T>E		No	ClinGen TOPMed
CA370338036 rs1425782466	1081	T>H		No	ClinGen gnomAD
rs764465207 CA4637872	1083	N>S		No	ClinGen ExAC gnomAD
CA370338018 rs1335783711	1084	V>A		No	ClinGen TOPMed
rs767728692 CA172179072	1087	T>E		No	ClinGen ExAC gnomAD
CA370337973 COSM140601 rs1262184718	1090	P>F	skin [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA370337971 rs1319399401	1091	L>T		No	ClinGen gnomAD
RCV000414298 CA4637868 rs759626631	1091	L>W		No	ClinGen ClinVar ExAC dbSNP gnomAD
VAR_014234 CA172186554 rs1044093	1199	E>V		No	ClinGen UniProt ExAC dbSNP gnomAD
CA172186430 rs1044094 VAR_014235	1209	S>C		No	ClinGen UniProt Ensembl dbSNP

No associated diseases with Q96QB1-1

No regional properties for Q96QB1-1

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q96QB1-1

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Cell junction, focal adhesion Membrane; Peripheral membrane protein	Colocalizes with EF1A1 at actin-rich regions in the cell periphery
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

8 GO annotations of cellular component

Name	Definition
caveola	A membrane raft that forms small pit, depression, or invagination that communicates with the outside of a cell and extends inward, indenting the cytoplasm and the cell membrane. Examples include flask-shaped invaginations of the plasma membrane in adipocytes associated with caveolin proteins, and minute pits or incuppings of the cell membrane formed during pinocytosis. Caveolae may be pinched off to form free vesicles within the cytoplasm.
cortical actin cytoskeleton	The portion of the actin cytoskeleton, comprising filamentous actin and associated proteins, that lies just beneath the plasma membrane.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
focal adhesion	A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ).
membrane raft	Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
ruffle membrane	The portion of the plasma membrane surrounding a ruffle.

3 GO annotations of molecular function

Name	Definition
GTPase activator activity	Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP.
lipid binding	Binding to a lipid.
SH2 domain binding	Binding to a SH2 domain (Src homology 2) of a protein, a protein domain of about 100 amino-acid residues and belonging to the alpha + beta domain class.

20 GO annotations of biological process

Name	Definition
actin cytoskeleton organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins.
activation of cysteine-type endopeptidase activity involved in apoptotic process	Any process that initiates the activity of the inactive enzyme cysteine-type endopeptidase in the context of an apoptotic process.
apoptotic process	A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
focal adhesion assembly	The aggregation and bonding together of a set of components to form a focal adhesion, a complex of intracellular signaling and structural proteins that provides a structural link between the internal actin cytoskeleton and the ECM, and also function as a locus of signal transduction activity.
forebrain development	The process whose specific outcome is the progression of the forebrain over time, from its formation to the mature structure. The forebrain is the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions).
heart morphogenesis	The developmental process in which the heart is generated and organized. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood.
hindbrain morphogenesis	The process in which the anatomical structure of the hindbrain is generated and organized. The hindbrain is the region consisting of the medulla, pons and cerebellum. Areas of the hindbrain control motor and autonomic functions.
negative regulation of cell migration	Any process that stops, prevents, or reduces the frequency, rate or extent of cell migration.
negative regulation of cell population proliferation	Any process that stops, prevents or reduces the rate or extent of cell proliferation.
negative regulation of focal adhesion assembly	Any process that stops, prevents, or reduces the frequency, rate or extent of focal adhesion assembly, the establishment and maturation of focal adhesions.
negative regulation of Rho protein signal transduction	Any process that stops, prevents, or reduces the frequency, rate or extent of Rho protein signal transduction.
negative regulation of stress fiber assembly	Any process that stops, prevents, or reduces the frequency, rate or extent of the assembly a stress fiber, a bundle of microfilaments and other proteins found in fibroblasts.
neural tube closure	The last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline.
positive regulation of execution phase of apoptosis	Any process that activates or increases the frequency, rate or extent of execution phase of apoptosis.
positive regulation of protein dephosphorylation	Any process that activates or increases the frequency, rate or extent of removal of phosphate groups from a protein.
regulation of actin cytoskeleton organization	Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins.
regulation of cell shape	Any process that modulates the surface configuration of a cell.
regulation of Rho protein signal transduction	Any process that modulates the frequency, rate or extent of Rho protein signal transduction.
regulation of small GTPase mediated signal transduction	Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction.
signal transduction	The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MSVAIRKRSW	EEHVTHWMGQ	PFNSDDRNTA	CHHGLVADSL	QASMEKDATL	NVDRKEKCVS
70	80	90	100	110	120
LPDCCHGSEL	RDFPGRPMGH	LSKDVDENDS	HEGEDQFLSL	EASTETLVHV	SDEDNNADLC
130	140	150	160	170	180
LTDDKQVLNT	QGQKTSGQHM	IQGAGSLEKA	LPIIQSNQVS	SNSWGIAGET	ELALVKESGE
190	200	210	220	230	240
RKVTDSISKS	LELCNEISLS	EIKDAPKVNA	VDTLNVKDIA	PEKQLLNSAV	IAQQRRKPDP
250	260	270	280	290	300
PKDENERSTC	NVVQNEFLDT	PCTNRGLPLL	KTDFGSCLLQ	PPSCPNGMSA	ENGLEKSGFS
310	320	330	340	350	360
QHQNKSPPKV	KAEDGMQCLQ	LKETLATQEP	TDNQVRLRKR	KEIREDRDRA	RLDSMVLLIM
370	380	390	400	410	420
KLDQLDQDIE	NALSTSSSPS	GTPTNLRRHV	PDLESGSESG	ADTISVNQTR	VNLSSDTEST
430	440	450	460	470	480
DLPSSTPVAN	SGTKPKTTAI	QGISEKEKAE	IEAKEACDWL	RATGFPQYAQ	LYEDFLFPID
490	500	510	520	530	540
ISLVKREHDF	LDRDAIEALC	RRLNTLNKCA	VMKLEISPHR	KRSDDSDEDE	PCAISGKWTF
550	560	570	580	590	600
QRDSKRWSRL	EEFDVFSPKQ	DLVPGSPDDS	HPKDGPSPGG	TLMDLSERQE	VSSVRSLSST
610	620	630	640	650	660
GSLPSHAPPS	EDAATPRTNS	VISVCSSSNL	AGNDDSFGSL	PSPKELSSFS	FSMKGHEKTA
670	680	690	700	710	720
KSKTRSLLKR	MESLKLKSSH	HSKHKAPSKL	GLIISGPILQ	EGMDEEKLKQ	LNCVEISALN
730	740	750	760	770	780
GNRINVPMVR	KRSVSNSTQT	SSSSSQSETS	SAVSTPSPVT	RTRSLSACNK	RVGMYLEGFD
790	800	810	820	830	840
PFNQSTFNNV	VEQNFKNRES	YPEDTVFYIP	EDHKPGTFPK	ALTNGSFSPS	GNNGSVNWRT
850	860	870	880	890	900
GSFHGPGHIS	LRRENSSDSP	KELKRRNSSS	SMSSRLSIYD	NVPGSILYSS	SGDLADLENE
910	920	930	940	950	960
DIFPELDDIL	YHVKGMQRIV	NQWSEKFSDE	GDSDSALDSV	SPCPSSPKQI	HLDVDNDRTT
970	980	990	1000	1010	1020
PSDLDSTGNS	LNEPEEPSEI	PERRDSGVGA	SLTRSNRHRL	RWHSFQSSHR	PSLNSVSLQI
1030	1040	1050	1060	1070	1080
NCQSVAQMNL	LQKYSLLKLT	ALLEKYTPSN	KHGFSWAVPK	FMKRIKVPDY	KDRSVFGVPL
1090	1100	1110	1120	1130	1140
TVNVQRTGQP	LPQSIQQAMR	YLRNHCLDQV	GLFRKSGVKS	RIQALRQMNE	GAIDCVNYEG
1150	1160	1170	1180	1190	1200
QSAYDVADML	KQYFRDLPEP	LMTNKLSETF	LQIYQYVPKD	QRLQAIKAAI	MLLPDENREV
1210	1220	1230	1240	1250	1260
LQTLLYFLSD	VTAAVKENQM	TPTNLAVCLA	PSLFHLNTLK	RENSSPRVMQ	RKQSLGKPDQ
1270	1280	1290	1300	1310	1320
KDLNENLAAT	QGLAHMIAEC	KKLFQVPEEM	SRCRNSYTEQ	ELKPLTLEAL	GHLGNDDSAD
1330	1340	1350	1360	1370	1380
YQHFLQDCVD	GLFKEVKEKF	KGWVSYSTSE	QAELSYKKVS	EGPPLRLWRS	VIEVPAVPEE
1390	1400	1410	1420	1430	1440
ILKRLLKEQH	LWDVDLLDSK	VIEILDSQTE	IYQYVQNSMA	PHPARDYVVL	RTWRTNLPKG
1450	1460	1470	1480	1490	1500
ACALLLTSVD	HDRAPVVGVR	VNVLLSRYLI	EPCGPGKSKL	TYMCRVDLRG	HMPEWYTKSF
1510	1520
GHLCAAEVVK	IRDSFSNQNT	ETKDTKSR