AiPD: Autoinhibited Protein Database

Q92620

Gene name	DHX38 (DDX38, KIAA0224, PRP16)
Protein name	Pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16
Names	ATP-dependent RNA helicase DHX38, DEAH box protein 38
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9785
EC number	3.6.4.13: Acting on ATP; involved in cellular and subcellular movement
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

196-305 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

196-305 (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

4 structures for Q92620

Entry ID	Method	Resolution	Chain	Position	Source
5YZG	EM	410 A	Z	1-1227	PDB
6ZYM	EM	340 A	r	1-1227	PDB
7A5P	EM	500 A	r	1-1227	PDB
AF-Q92620-F1	Predicted				AlphaFoldDB

985 variants for Q92620

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001064475 rs145829337 RCV002497458 CA8159861	19	D>N	Retinitis pigmentosa 84 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs375181581 CA8159940 RCV002564087 RCV001244616	114	R>Q	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA8159939 rs370388859 RCV003160294 RCV001042864	114	R>W	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs181471020 RCV001306749 CA8160050 RCV003145543	239	Y>C	Retinitis pigmentosa 84 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs202052654 CA283677155 RCV002547474 RCV001348327	250	T>S	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP TOPMed dbSNP gnomAD
RCV002489576 RCV002551523 RCV001042899 CA8160134 rs61749038	308	T>M	Retinitis pigmentosa 84 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_081338 rs766053952 CA283678379 RCV001034602 RCV000723361	324	R>Q	Autosomal recessive retinitis pigmentosa Retinitis pigmentosa 84 RP84 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
VAR_081339 RCV000128810 rs587777554 CA232802	332	G>D	Retinitis pigmentosa 84 RP84; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA8160201 RCV003160350 rs141665378 RCV001046457	367	R>W	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1408544161 RCV002499598 RCV001312562 CA396710654	689	A>S	Retinitis pigmentosa 84 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001229065 RCV002563714 rs201461331 CA8160568	739	A>T	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1597445687 RCV001003006 CA396712070	777	P>S	Retinitis pigmentosa [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA8160644 RCV001345486 RCV002547034 rs201198441	798	V>I	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001045008 rs543465915 RCV002481918 CA8160787	944	R>Q	Variant assessed as Somatic; 0.0 impact. Retinitis pigmentosa 84 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs752923486 RCV001535687 CA283691581 RCV001297895	1065	D>H	Retinitis pigmentosa 84 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001349820 rs1334107858 CA396717130 RCV002545617	1130	M>T	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA8161015 rs372331694 RCV002570359 RCV001247735	1162	R>H	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA8161031 rs766256373 RCV002563189 RCV001230800	1187	R>Q	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1398547672 CA396698256	2	G>A		No	ClinGen TOPMed gnomAD
CA283671962 rs1026619811	3	D>Y		No	ClinGen gnomAD
rs757508246 CA8159852	6	E>K		No	ClinGen ExAC gnomAD
CA8159853 rs200560451	9	S>L		No	ClinGen ExAC TOPMed gnomAD
rs756649707 CA8159856	11	H>R		No	ClinGen ExAC TOPMed gnomAD
rs746213842 CA8159855	11	H>Y		No	ClinGen ExAC TOPMed
CA396698460 rs1253593221	12	R>G		No	ClinGen gnomAD
rs201334464 CA8159857 COSM274780	12	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA8159860 rs35794819	16	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA283672030 rs995615242	17	D>E		No	ClinGen TOPMed
TCGA novel	17	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771686377 CA8159862	20	C>W		No	ClinGen ExAC gnomAD
rs1597437374 CA396698769	22	V>G		No	ClinGen Ensembl
rs989368491 CA283672045	23	G>S		No	ClinGen TOPMed
CA8159864 rs760513325	24	G>S		No	ClinGen ExAC gnomAD
CA8159865 rs766282512	26	I>T		No	ClinGen ExAC TOPMed gnomAD
CA396698892 rs1567602304	27	C>S		No	ClinGen Ensembl
rs200839114 CA8159867	29	S>T		No	ClinGen 1000Genomes ExAC gnomAD
rs764293185 CA8159868	30	K>R		No	ClinGen ExAC TOPMed gnomAD
rs867897120 CA283672098	32	A>E		No	ClinGen TOPMed gnomAD
rs867897120 CA283672100	32	A>V		No	ClinGen TOPMed gnomAD
rs2042016438 RCV001052986	33	A>V		No	ClinVar dbSNP
CA8159872 rs750813855	35	E>G		No	ClinGen ExAC gnomAD
CA8159871 rs148299509	35	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA396699208 rs1325167973	37	H>D		No	ClinGen gnomAD
CA396699232 rs1175788460	38	V>I		No	ClinGen gnomAD
CA8159874 rs780220340 COSM3818509	42	P>S	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs755424304 CA8159876	44	P>A		No	ClinGen ExAC TOPMed gnomAD
CA8159877 rs372776663	45	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs747622765 CA8159878	45	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs372776663 CA396699382	45	R>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1259786795 CA396699415	46	P>L		No	ClinGen gnomAD
CA8159884 rs558160185	50	G>E		No	ClinGen 1000Genomes ExAC gnomAD
CA8159883 rs777467018	50	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1161507548 CA396699611	54	L>M		No	ClinGen gnomAD
rs1036840628 CA283672208	55	A>S		No	ClinGen gnomAD
CA396699622 rs1036840628	55	A>T		No	ClinGen gnomAD
CA8159888 rs150592983 RCV001064724	59	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA8159887 rs759595573	59	R>W		No	ClinGen ExAC gnomAD
CA8159889 rs574278049	61	E>A		No	ClinGen 1000Genomes ExAC gnomAD
CA396699787 rs1385706449 COSM294307	62	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs761973670 CA8159890	62	R>Q		No	ClinGen ExAC gnomAD
CA396699827 rs1300318716	64	E>G		No	ClinGen TOPMed gnomAD
rs147365158 CA8159892	66	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8159893 rs184511349	67	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs2042018268 RCV001313224	68	G>A		No	ClinVar dbSNP
rs1218162604 CA396699900	68	G>R		No	ClinGen gnomAD
rs1201110849 CA396699966 COSM1735258	71	K>N	pancreas [Cosmic]	No	ClinGen cosmic curated gnomAD
CA283672265 rs200918848	72	K>R		No	ClinGen Ensembl
rs1485550444	73	K>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	73	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396700037 rs1243665315	75	K>R		No	ClinGen TOPMed gnomAD
CA396700036 rs1243665315	75	K>T		No	ClinGen TOPMed gnomAD
rs754175657 CA8159896	76	V>G		No	ClinGen ExAC gnomAD
rs1216976993 CA396700095	79	Y>C		No	ClinGen TOPMed
CA283672276 rs995120414	80	K>E		No	ClinGen TOPMed
rs1384336494 CA396700114	80	K>M		No	ClinGen gnomAD
CA283672310 rs953728233	82	W>C		No	ClinGen Ensembl
rs755515841 CA8159897	82	W>G		No	ClinGen ExAC gnomAD
rs142792449 CA396700199	84	E>D		No	ClinGen ESP TOPMed gnomAD
CA8159899 rs752261317	85	S>R		No	ClinGen ExAC gnomAD
CA8159898 rs779386985	85	S>R		No	ClinGen ExAC gnomAD
rs1369069743 CA396700270	89	Q>*		No	ClinGen TOPMed
rs1006957063 CA283672340	91	D>G		No	ClinGen gnomAD
rs1310300573 CA396700328	92	A>V		No	ClinGen TOPMed
CA396700353 RCV001301649 rs1408908621	94	E>G		No	ClinGen ClinVar dbSNP gnomAD
RCV001206632 rs777080614 CA8159901	95	E>D		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA8159900 rs757939290	95	E>K		No	ClinGen ExAC gnomAD
CA8159902 rs746698158	96	G>S		No	ClinGen ExAC gnomAD
rs745656134 CA8159905	97	G>D		No	ClinGen ExAC gnomAD
rs781174952 CA8159904 RCV001237868	97	G>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs202198465 CA8159906	99	Q>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs775585410 CA8159907	99	Q>L		No	ClinGen ExAC gnomAD
TCGA novel	100	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396700461 rs1201639342	102	Q>R		No	ClinGen TOPMed gnomAD
rs762921890 CA8159909	105	R>L		No	ClinGen ExAC TOPMed gnomAD
rs762921890 RCV001320986 CA8159908	105	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA283672393 rs1019646325	105	R>W		No	ClinGen TOPMed gnomAD
rs773113931 CA8159910	107	D>E		No	ClinGen ExAC gnomAD
rs2042026565 RCV001060474	111	R>Q		No	ClinVar dbSNP
rs1404402633 CA396700614	111	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs765620584 CA8159934	112	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA8159935 rs775810927	113	A>P		No	ClinGen ExAC TOPMed gnomAD
CA396700628 rs775810927	113	A>S		No	ClinGen ExAC TOPMed gnomAD
CA8159936 rs775810927	113	A>T		No	ClinGen ExAC TOPMed gnomAD
CA8159937 rs192983504	113	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8159941 rs750135709	115	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1489752757 CA396700677	120	H>Y		No	ClinGen TOPMed gnomAD
CA8159944 rs749000951	121	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM365083 rs780039631 CA8159943	121	P>S	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs748059500 CA8159947	123	G>C		No	ClinGen ExAC gnomAD
CA396700728 rs1363924410	125	S>N		No	ClinGen gnomAD
CA396700738 rs1319262864	126	E>K		No	ClinGen gnomAD
rs769973036 CA8159951	127	E>K		No	ClinGen ExAC
rs1268278116 CA396700803	130	E>G		No	ClinGen TOPMed gnomAD
rs763215842 CA8159953	131	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8159954 rs769008594	131	R>H		No	ClinGen ExAC gnomAD
COSM973448 CA8159956 rs762344139	133	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA8159955 rs774728184	133	R>W		No	ClinGen ExAC TOPMed gnomAD
rs2042028158 RCV001322637	134	Q>H		No	ClinVar dbSNP
rs1376393495	136	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs2042028262 RCV001301041	136	E>G		No	ClinVar dbSNP
rs1597438058 CA396700880	136	E>Q		No	ClinGen Ensembl
rs760440239 CA8159959	137	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs200501313 CA8159958	137	R>W		No	ClinGen 1000Genomes ExAC gnomAD
COSM294308 CA8159961 rs753722533	139	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA8159960 RCV001070413 rs549408121	139	R>W		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs778702496 COSM230752 CA8159963	140	R>Q	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1050362 CA396700943	140	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145090795 CA8159964	141	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA283673002 rs76109028	141	E>G		No	ClinGen Ensembl
RCV001069157 rs2042028826	142	H>R		No	ClinVar dbSNP
CA396700983 rs1159302873	143	G>D		No	ClinGen gnomAD
CA396700993 rs1597438134	144	V>L		No	ClinGen Ensembl
CA396701018 rs1317792592	145	Y>C		No	ClinGen gnomAD
rs1399019104 CA396701007	145	Y>H		No	ClinGen gnomAD
CA396701031 rs1387789860	146	A>S		No	ClinGen gnomAD
CA396701028 rs1387789860 RCV001043048	146	A>T		No	ClinGen ClinVar dbSNP gnomAD
rs1453239145 CA396701039	146	A>V		No	ClinGen gnomAD
CA283673029 RCV001225471 rs972681537	147	S>L		No	ClinGen ClinVar dbSNP gnomAD
rs142444234 RCV001057891 CA8159968	150	E>D		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs780155892 CA8159969	151	E>K		No	ClinGen ExAC gnomAD
CA283673074 rs1024050282	152	K>E		No	ClinGen TOPMed gnomAD
CA283673083 rs749463201	153	D>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	155	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8159973 COSM973449 rs368707127	159	S>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA396701288 rs368707127	159	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1173828688 CA396701298	160	R>Q		No	ClinGen TOPMed
CA8159975 rs772921146	160	R>W		No	ClinGen ExAC gnomAD
RCV001233611 rs776376075 CA8159976	161	D>E		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA396701306 rs1183071483	161	D>N		No	ClinGen gnomAD
CA8159978 rs765927258	162	R>*		No	ClinGen ExAC gnomAD
CA396701329 rs1158035833	162	R>Q		No	ClinGen gnomAD
CA396701342 rs1180446258	163	D>E		No	ClinGen TOPMed
RCV001221531 CA8159979 rs201640902	163	D>Y		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8159980 rs764963782	164	Y>C		No	ClinGen ExAC gnomAD
CA396701368 rs1473799808	165	D>G		No	ClinGen TOPMed
CA8159981 rs752514487	166	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1020522001 COSM973450 CA283673158	166	R>H	Variant assessed as Somatic; 0.0 impact. central_nervous_system endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA283673167 rs1020522001	166	R>L		No	ClinGen TOPMed gnomAD
CA8159982 rs752514487	166	R>S		No	ClinGen ExAC TOPMed gnomAD
CA396701409 rs1329354433	167	K>R		No	ClinGen gnomAD
rs764939717 CA8159997	171	D>G		No	ClinGen ExAC gnomAD
CA8159999 rs762752248	173	R>L		No	ClinGen ExAC gnomAD
rs762752248 CA8160000	173	R>Q		No	ClinGen ExAC gnomAD
rs775322616 CA8159998	173	R>W		No	ClinGen ExAC gnomAD
CA8160001 rs751531063	174	D>N		No	ClinGen ExAC
rs757140615 CA8160002	174	D>V		No	ClinGen ExAC gnomAD
CA8160003 rs766421564	175	R>T		No	ClinGen ExAC gnomAD
CA8160004 rs568581243	178	H>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1292764256 CA396701599	179	S>N		No	ClinGen gnomAD
CA396701595 rs1434187947	179	S>R		No	ClinGen TOPMed
CA8160005 rs755218183	180	S>C		No	ClinGen ExAC gnomAD
CA8160006 rs755218183	180	S>G		No	ClinGen ExAC gnomAD
rs1220313879 CA396701609	180	S>I		No	ClinGen gnomAD
rs755218183 CA283673691	180	S>R		No	ClinGen ExAC gnomAD
CA396701622 rs1290394094	181	R>I		No	ClinGen TOPMed
rs758835301 CA8160008	182	S>*		No	ClinGen ExAC gnomAD
CA8160007 rs748320622	182	S>P		No	ClinGen ExAC gnomAD
rs778241309 CA8160009	184	R>*		No	ClinGen ExAC gnomAD
CA8160010 rs747539910	184	R>Q		No	ClinGen ExAC gnomAD
CA8160011 rs771446107 RCV001337302	185	D>H		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
TCGA novel	185	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396701664 rs1365784811	186	G>R		No	ClinGen gnomAD
rs1426205084 CA396701677	187	G>R		No	ClinGen gnomAD
CA8160012 rs776044870	188	S>A		No	ClinGen ExAC
CA396701689 rs1567603501	188	S>L		No	ClinGen Ensembl
CA8160013 rs745370411	189	E>G		No	ClinGen ExAC gnomAD
CA396701707 rs1382304169	190	R>C		No	ClinGen TOPMed gnomAD
RCV001339787 CA8160014 rs769129571	190	R>H		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1446097881 CA396701729	192	S>T		No	ClinGen TOPMed
CA623281179 rs1567603498	194	R>A		No	ClinGen Ensembl
RCV001298423 rs1567603498	194	R>A*		No	ClinVar dbSNP
CA8160016 rs762555103	197	P>L		No	ClinGen ExAC gnomAD
rs1243995538 CA396701795	198	E>D		No	ClinGen gnomAD
CA8160019 rs774114256	198	E>K		No	ClinGen ExAC TOPMed gnomAD
CA8160018 rs774114256	198	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs770968364 CA283673769	200	P>S		No	ClinGen Ensembl
rs1264540359 CA396701819	201	R>Q		No	ClinGen TOPMed
rs2042041747 RCV001236620	202	H>Y		No	ClinVar dbSNP
rs753918448 CA8160021 COSM1203560	203	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA283673811 COSM3421150 rs963971164	203	R>Q	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs1224928062 CA396701853	204	P>L		No	ClinGen TOPMed
rs1207037408 CA396701848	204	P>S		No	ClinGen TOPMed gnomAD
CA283677039 rs1009379062	207	A>P		No	ClinGen TOPMed
rs1020312880 CA283677049	207	A>V		No	ClinGen TOPMed
rs1177694533 CA396702533	209	T>S		No	ClinGen gnomAD
rs779492797 CA8160033	210	P>H		No	ClinGen ExAC gnomAD
rs2042053958 RCV001301425	212	R>M		No	ClinVar dbSNP
CA8160034 rs146620694	213	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA396702573 rs1302679750	216	E>Q		No	ClinGen gnomAD
CA8160036 rs140965988	220	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA396702629 rs140965988	220	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	221	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396702652 rs1335993452	222	Y>C		No	ClinGen TOPMed gnomAD
CA8160037 rs761651649	223	G>V		No	ClinGen ExAC gnomAD
rs771702994 CA8160038	227	R>C		No	ClinGen ExAC TOPMed gnomAD
RCV001235664 rs773202438 CA8160039	227	R>H		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs760487486 CA8160040	228	S>P		No	ClinGen ExAC gnomAD
RCV001208360 rs765427167	229	Q>H		No	ClinVar dbSNP
CA396702753 rs1257535071	231	E>Q		No	ClinGen TOPMed
rs201115361 RCV001323457 CA8160042	232	S>L		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA283677076 rs1003246113	235	P>A		No	ClinGen TOPMed
CA283677077 rs893005252	235	P>L		No	ClinGen TOPMed gnomAD
rs781372374 CA8160047	236	T>M		No	ClinGen ExAC gnomAD
CA8160048 rs750964573	237	P>L		No	ClinGen ExAC gnomAD
rs181471020 CA8160051 RCV001060746	239	Y>F		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA396702845 rs374768272	240	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
RCV001207481 CA8160052 rs374768272	240	R>Q		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA283677092 rs200117403	240	R>W		No	ClinGen 1000Genomes
CA396702948 rs1359532731	242	S>A		No	ClinGen TOPMed
rs1405608952 COSM1238672 CA396702986	244	R>Q	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA8160053 rs778546359	244	R>W		No	ClinGen ExAC gnomAD
rs1217361626 CA396703023	246	H>Q		No	ClinGen gnomAD
CA396703019 rs1365626981	246	H>R		No	ClinGen gnomAD
CA396703033 rs1307797368	247	R>Q		No	ClinGen TOPMed gnomAD
CA8160055 RCV001348485 rs369133069	247	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA8160056 rs772832163	248	L>P		No	ClinGen ExAC TOPMed gnomAD
rs772832163 CA396703048	248	L>R		No	ClinGen ExAC TOPMed gnomAD
CA283677151 rs74649326	249	S>A		No	ClinGen Ensembl
rs1272020330 CA396703059	249	S>F		No	ClinGen gnomAD
CA8160057 rs201793070	251	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs770959997 CA8160058	252	D>A		No	ClinGen ExAC gnomAD
CA8160059 rs770959997	252	D>G		No	ClinGen ExAC gnomAD
rs267604626 CA283677191	253	R>*		No	ClinGen gnomAD
CA8160060 rs763111684	253	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1420853781 CA396703126	254	D>G		No	ClinGen gnomAD
rs1322498300 CA396703226	258	R>W		No	ClinGen TOPMed
rs1281150003 CA396703254	259	G>V		No	ClinGen TOPMed
rs1330635087 CA396703261	260	K>R		No	ClinGen gnomAD
rs773681019 CA8160083	261	Y>*		No	ClinGen ExAC gnomAD
rs761037766 RCV001235556 CA8160084	262	S>L		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs761037766 CA396703286	262	S>W		No	ClinGen ExAC TOPMed gnomAD
RCV001230926 rs2042059185	264	D>G		No	ClinVar dbSNP
rs766666875 CA8160085	264	D>N		No	ClinGen ExAC TOPMed gnomAD
CA8160086 rs754377993	265	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1472612936 CA396703345	268	P>T		No	ClinGen gnomAD
rs1044592710 CA283677374	270	P>L		No	ClinGen Ensembl
CA8160089 rs752119455	271	S>F		No	ClinGen ExAC gnomAD
rs777278940 CA8160091	272	Y>C		No	ClinGen ExAC gnomAD
TCGA novel	273	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs557237564 CA283677396	276	E>K		No	ClinGen Ensembl
CA396703457 rs1470105108	278	A>S		No	ClinGen gnomAD
rs781084397 CA8160094	279	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8160095 rs191078136	280	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs377243883 CA283677418	282	R>G		No	ClinGen ESP
CA8160096 rs769585747	282	R>K		No	ClinGen ExAC gnomAD
CA396703521 rs1179108545	283	H>Y		No	ClinGen TOPMed
CA396703533 rs1388069811	284	L>V		No	ClinGen Ensembl
rs548505029 CA396703549	285	G>A		No	ClinGen 1000Genomes ExAC gnomAD
CA396703542 rs1226114015	285	G>R		No	ClinGen gnomAD
rs548505029 CA8160098	285	G>V		No	ClinGen 1000Genomes ExAC gnomAD
CA396703545 RCV001223066 rs1226114015	285	G>W		No	ClinGen ClinVar dbSNP gnomAD
rs1597439974 CA396703565	287	T>P		No	ClinGen Ensembl
RCV001324883 rs148934675 CA8160099	288	P>L	Variant assessed as Somatic; 0.0004642 impact. [NCI-TCGA]	No	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA8160101 rs760850084	289	R>C		No	ClinGen ExAC TOPMed gnomAD
CA8160102 rs143671341	289	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA396703585 rs143671341	289	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143671341 CA8160103	289	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs760079095 CA8160104	290	L>M		No	ClinGen ExAC TOPMed gnomAD
rs1254248200 CA396703589	290	L>P		No	ClinGen gnomAD
rs760079095 CA8160106	290	L>V		No	ClinGen ExAC TOPMed gnomAD
rs2042060925 RCV001205929	291	S>Y		No	ClinVar dbSNP
CA396703603 rs1460870031	292	R>G		No	ClinGen TOPMed
CA396703615 rs1261005671	293	G>S		No	ClinGen TOPMed
CA396703633 rs370793135	294	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
RCV001242791 CA8160107 rs370793135	294	R>Q		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1597440012 CA396703637	295	G>R		No	ClinGen Ensembl
RCV001294902 rs763560423 CA8160125	297	R>C		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs368516031 CA396703699	297	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA8160126 RCV001049183 rs368516031	297	R>L		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs61749037 CA8160128 RCV000909671	301	E>K		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs553701925 CA8160129	302	E>G		No	ClinGen 1000Genomes ExAC gnomAD
CA396703738 rs1292784728	302	E>K		No	ClinGen gnomAD
rs755861959 CA8160130	303	G>E		No	ClinGen ExAC gnomAD
rs1451002433 CA396703769	304	I>M		No	ClinGen gnomAD
rs779862354 CA8160131	304	I>T		No	ClinGen ExAC gnomAD
CA8160132 rs753745786	305	S>*		No	ClinGen ExAC TOPMed gnomAD
rs754923063 CA8160133	307	D>G		No	ClinGen ExAC gnomAD
RCV001352463 rs2042064243	311	E>missing		No	ClinVar dbSNP
CA8160136 rs771201827	311	E>A		No	ClinGen ExAC gnomAD
rs771943517 CA8160137	312	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs2042064435 RCV001209733	312	R>W		No	ClinVar dbSNP
rs1567604675 CA396703882	314	Q>K		No	ClinGen Ensembl
rs1597440257 CA396703895	315	W>G		No	ClinGen Ensembl
rs76047777 CA283677760	316	E>G		No	ClinGen Ensembl
TCGA novel	316	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV001321263 rs1477594439 CA396703924	317	D>V		No	ClinGen ClinVar dbSNP gnomAD
CA8160138 rs746035585	318	D>E		No	ClinGen ExAC TOPMed gnomAD
CA8160139 rs770076206	319	Q>*		No	ClinGen ExAC gnomAD
rs993744921 CA283677762	320	R>K		No	ClinGen TOPMed gnomAD
rs1363383431 CA396703963	320	R>S		No	ClinGen gnomAD
rs771734588 CA8160163	321	Q>R		No	ClinGen ExAC gnomAD
CA8160164 rs772761606	322	A>D		No	ClinGen ExAC gnomAD
CA396704051 rs1358743832	323	D>G		No	ClinGen TOPMed
TCGA novel	323	D>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1217647309 CA396704044	323	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs766053952 CA8160166	324	R>L		No	ClinGen ExAC TOPMed gnomAD
CA396704059 COSM1203564 rs1464865771	324	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA8160167 rs776349094	325	D>H		No	ClinGen ExAC
CA396704083 rs1323489573	326	W>G		No	ClinGen TOPMed
CA396704098 rs1313134060	327	Y>H		No	ClinGen TOPMed
rs371891907 CA8160168	328	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs764946352 CA8160169	329	M>I		No	ClinGen ExAC gnomAD
CA396704125 rs1299591435	329	M>T		No	ClinGen TOPMed
rs919370167 CA283678410	329	M>V		No	ClinGen TOPMed
rs929264678 CA283678424	330	D>N		No	ClinGen TOPMed
rs890678223 CA283678425	331	E>K		No	ClinGen TOPMed gnomAD
CA283678443 rs778981016	333	Y>C		No	ClinGen Ensembl
rs1170401397 CA396704237	336	F>L		No	ClinGen TOPMed
rs866573404 CA283678464	337	H>N		No	ClinGen Ensembl
CA396704246 rs1255027070	337	H>R		No	ClinGen gnomAD
rs537886181 RCV001040422 CA8160175	338	N>S		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA8160176 rs749400680	339	P>L		No	ClinGen ExAC TOPMed gnomAD
CA396704294 rs1597440847	339	P>S		No	ClinGen Ensembl
CA8160180 rs535363179	341	A>P		No	ClinGen 1000Genomes ExAC gnomAD
CA8160181 rs535363179	341	A>S		No	ClinGen 1000Genomes ExAC gnomAD
rs758566056 CA283678536	342	Y>C		No	ClinGen Ensembl
rs553951253 CA8160184	344	S>F		No	ClinGen 1000Genomes ExAC gnomAD
CA8160187 rs765039659	345	E>D		No	ClinGen ExAC gnomAD
CA8160186 rs200708769	345	E>K		No	ClinGen ExAC TOPMed gnomAD
RCV000996307 CA8160190 rs201188851	348	V>M		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA8160194 rs766325359	350	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8160195 rs755232918	350	R>K		No	ClinGen ExAC gnomAD
CA8160196 rs779464648 RCV001237645	351	R>Q		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1011056954 CA283678637	351	R>W		No	ClinGen TOPMed
rs753110191 CA8160197	352	E>*		No	ClinGen ExAC gnomAD
CA396704426 rs753110191	352	E>K		No	ClinGen ExAC gnomAD
CA396704438 rs1597440930	353	Q>K		No	ClinGen Ensembl
rs796089970 CA283678650	354	H>R		No	ClinGen Ensembl
CA8160199 rs778359237	356	H>N		No	ClinGen ExAC TOPMed gnomAD
rs1248943766 CA396704478	356	H>P		No	ClinGen gnomAD
rs1248943766 CA396704477	356	H>R		No	ClinGen gnomAD
CA396704516 rs1487815874	359	K>N		No	ClinGen gnomAD
CA8160200 COSM1379687 rs138115620	362	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
RCV001212716 rs138115620	362	R>L		No	ClinVar dbSNP
RCV001239712 rs2042076658	364	S>A		No	ClinVar dbSNP
CA283678699 rs966449926	366	Q>E		No	ClinGen TOPMed
rs375405645 CA8160202	367	R>Q		No	ClinGen ESP ExAC gnomAD
rs745558826 CA8160203	368	R>K		No	ClinGen ExAC gnomAD
CA8160205 rs775320292	371	N>S		No	ClinGen ExAC gnomAD
CA8160225 rs773991276 COSM3421151	375	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA283679520 rs1042654386	376	R>C		No	ClinGen TOPMed gnomAD
rs902688833 RCV001205975 CA283679543	376	R>L		No	ClinGen ClinVar TOPMed dbSNP gnomAD
TCGA novel	376	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs963298654 CA283679544	381	R>C		No	ClinGen TOPMed gnomAD
TCGA novel	387	V>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776911526 CA8160228	388	V>L		No	ClinGen ExAC gnomAD
rs200780980 CA8160230	389	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs763036639 CA8160232	390	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8160231 rs775888068	390	R>W		No	ClinGen ExAC TOPMed gnomAD
rs751864203 CA8160234	392	E>D		No	ClinGen ExAC TOPMed gnomAD
CA8160233 rs190847480	392	E>G		No	ClinGen ExAC gnomAD
CA8160235 rs757840903	393	V>G		No	ClinGen ExAC gnomAD
rs75747454 CA8160237	394	D>G		No	ClinGen ExAC gnomAD
CA396705254 rs1221355959	395	E>K		No	ClinGen gnomAD
rs755650259 CA8160239	396	D>E		No	ClinGen ExAC
CA396705267 rs750861792	396	D>H		No	ClinGen ExAC gnomAD
CA8160238 rs750861792	396	D>Y		No	ClinGen ExAC gnomAD
CA396705322 rs1567605677	400	D>H		No	ClinGen Ensembl
rs779488493 CA8160240	401	N>S		No	ClinGen ExAC TOPMed gnomAD
rs779488493 CA8160241	401	N>T		No	ClinGen ExAC TOPMed gnomAD
rs565963668 CA8160243	402	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA8160244 rs747886409	402	A>V		No	ClinGen ExAC gnomAD
COSM1189316 rs771844746 RCV001060181 CA8160245	403	A>T	lung [Cosmic]	No	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
CA8160246 rs773289850	407	L>V		No	ClinGen ExAC gnomAD
CA8160247 rs539297616	409	V>M		No	ClinGen 1000Genomes ExAC gnomAD
CA8160248 rs557516542	411	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA283679730 rs866185869	415	P>L		No	ClinGen Ensembl
CA8160249 rs775691753	420	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1355536510 CA396705532	422	V>I		No	ClinGen TOPMed gnomAD
rs1056618993 CA283680157	427	P>L		No	ClinGen gnomAD
CA396705669 rs1056618993	427	P>Q		No	ClinGen gnomAD
rs1189035918 CA396705889	435	D>G		No	ClinGen gnomAD
CA396705875 rs1467854623	435	D>N		No	ClinGen gnomAD
CA8160277 rs754315338	437	T>A		No	ClinGen ExAC gnomAD
CA8160278 rs758976757	437	T>N		No	ClinGen ExAC gnomAD
CA283680213 RCV001041457 rs898528409	438	S>A		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA8160279 rs764768532	442	I>V		No	ClinGen ExAC gnomAD
CA396706021 rs1394470654	443	I>T		No	ClinGen gnomAD
CA8160280 rs752315632	443	I>V		No	ClinGen ExAC gnomAD
rs569480638 CA8160282	445	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs758101714 CA8160281 RCV001040653	445	R>W		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs751397301 CA8160283	446	K>Q		No	ClinGen ExAC gnomAD
rs2042094559 RCV001326164	450	T>I		No	ClinVar dbSNP
rs572242169 CA283680263	451	V>A		No	ClinGen gnomAD
rs1212600704 CA396706138	451	V>L		No	ClinGen TOPMed
rs1212600704 CA396706140	451	V>M		No	ClinGen TOPMed
rs1242770196 CA396706153	452	R>Q		No	ClinGen gnomAD
CA8160284 rs146195196	452	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1457069357 CA396706191	455	R>G		No	ClinGen gnomAD
CA396706226 rs1334121795	456	E>D		No	ClinGen gnomAD
TCGA novel	456	E>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8160287 rs768639317	460	R>C		No	ClinGen ExAC TOPMed
COSM1563504 rs779025493 CA8160288	460	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA396706321 rs1484779244	461	K>Q		No	ClinGen gnomAD
CA396706336 rs1314926440	461	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA396706349 rs1337130238	462	K>R		No	ClinGen Ensembl
CA396706499 rs1198964138	463	A>T		No	ClinGen TOPMed gnomAD
CA396706546 rs1371171735	464	Q>H		No	ClinGen TOPMed gnomAD
rs777032821 CA8160313	465	H>N		No	ClinGen ExAC gnomAD
CA283680760 rs974256171	465	H>R		No	ClinGen TOPMed
CA396706584 rs1299801143	466	K>I		No	ClinGen TOPMed gnomAD
CA396706580 rs1299801143	466	K>R		No	ClinGen TOPMed gnomAD
CA283680761 rs556929220	468	W>R		No	ClinGen Ensembl
TCGA novel	469	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1371159718 CA396706656	470	L>M		No	ClinGen gnomAD
CA8160314 rs368629844	470	L>P		No	ClinGen ESP ExAC gnomAD
rs61757601 RCV001046175 CA8160315	471	A>V		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA396706701 rs1279240087	472	G>E		No	ClinGen gnomAD
rs1231540187 CA396706694	472	G>R		No	ClinGen gnomAD
TCGA novel	477	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8160317 rs139756717	478	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	479	M>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396706827 rs1231636851	480	G>D		No	ClinGen gnomAD
RCV001345893 rs758099171 CA283680817	481	V>I		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA8160320 rs199893016	485	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8160321 rs144512086	490	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA396706965 rs1209014572	492	T>A		No	ClinGen TOPMed
RCV000949994 CA8160322 rs36064538	492	T>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1461368004 CA396706972	493	E>*		No	ClinGen gnomAD
rs148774432 CA8160323	494	D>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1438511214 CA396707015	497	V>L		No	ClinGen gnomAD
CA396707024 rs1365521693	498	D>N		No	ClinGen gnomAD
rs768626415 CA283680878	499	Y>C		No	ClinGen gnomAD
rs1225208757 CA396707045	500	R>G		No	ClinGen TOPMed
rs1415806169 CA396707255	501	T>A		No	ClinGen gnomAD
TCGA novel	502	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396707304 rs1164147663	506	A>S		No	ClinGen TOPMed gnomAD
CA396707301 rs1164147663	506	A>T		No	ClinGen TOPMed gnomAD
rs761435461 CA8160340	507	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1402302621 CA396707340	509	M>K		No	ClinGen gnomAD
CA283682575 rs551793007	509	M>V		No	ClinGen TOPMed
CA396707357 rs1289721692	510	K>N		No	ClinGen TOPMed gnomAD
rs1315771966 CA396707365	511	R>I		No	ClinGen gnomAD
CA8160341 rs767182777 RCV000881056	511	R>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA283682586 rs951901244	512	K>N		No	ClinGen TOPMed gnomAD
TCGA novel	513	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396707384 rs1448086110	513	S>T		No	ClinGen gnomAD
COSM267894 CA8160343 rs373210227	514	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs766051281 CA8160344	516	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA396707434 rs1245650152	517	S>N		No	ClinGen TOPMed
CA396707491 rs1567607313	522	K>R		No	ClinGen Ensembl
rs745391363	523	K>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs753798741 CA8160346	525	I>V		No	ClinGen ExAC gnomAD
rs1317574820 CA396707537	527	E>K		No	ClinGen TOPMed
rs2042123542 RCV001207681	528	Q>*		No	ClinVar dbSNP
CA8160347 rs754891695	529	R>K		No	ClinGen ExAC gnomAD
CA396707561 rs1432546909	529	R>S		No	ClinGen TOPMed
CA283682617 rs751635490 RCV001346060	530	Q>H		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA8160348 rs764198658	530	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs757480323 CA8160350	531	Y>C		No	ClinGen ExAC gnomAD
rs1252527355 CA396707585	532	L>R		No	ClinGen gnomAD
CA396707592 rs1483535223	533	P>A		No	ClinGen gnomAD
rs750569490 CA8160352	533	P>L		No	ClinGen ExAC gnomAD
rs750569490 CA283682640	533	P>R		No	ClinGen ExAC gnomAD
rs1407021176 CA396707619	536	A>P		No	ClinGen gnomAD
CA283682647 rs1034426445	539	Q>*		No	ClinGen Ensembl
rs1414635048 CA396707663	540	E>D		No	ClinGen gnomAD
rs756522633 CA8160353	542	L>F		No	ClinGen ExAC gnomAD
CA396707696 rs1373088700	544	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8160355 rs749851800	545	I>T		No	ClinGen ExAC TOPMed gnomAD
rs780542875 CA8160354	545	I>V		No	ClinGen ExAC gnomAD
rs1292177101 CA396707775	547	D>E		No	ClinGen TOPMed
rs926168195 CA283683181	549	S>N		No	ClinGen TOPMed
CA396707799 rs1229459039	549	S>R		No	ClinGen TOPMed gnomAD
CA396707808 rs1337548930	550	I>T		No	ClinGen gnomAD
RCV001348452 rs773675029 CA8160373	550	I>V		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA8160375 rs748565651 RCV001244228 COSM168471	551	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD
CA396707836 rs1368183351	553	V>G		No	ClinGen gnomAD
rs1458012762 CA396707832	553	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs374496350 CA8160379 RCV001065294	554	V>A		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs746718854 CA8160378	554	V>F		No	ClinGen ExAC gnomAD
rs374496350 CA396707840	554	V>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA283683232 rs752237604	557	T>M		No	ClinGen gnomAD
CA396707908 rs1167831350	561	K>T		No	ClinGen gnomAD
CA8160383 rs367927748	566	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
RCV001053316 CA396707976 rs1448629075	567	Q>H		No	ClinGen ClinVar TOPMed dbSNP
CA396707989 rs762775948 CA8160385	568	Y>*		No	ClinGen ExAC gnomAD
CA8160386 rs767675217	569	L>V		No	ClinGen ExAC gnomAD
CA396708008 rs1324745737	570	H>R		No	ClinGen gnomAD
CA283683264 rs879012558	571	E>K		No	ClinGen Ensembl
rs766717458 CA8160389	572	D>G		No	ClinGen ExAC gnomAD
CA8160388 rs761031450	572	D>H		No	ClinGen ExAC gnomAD
rs1210169680 CA396708078	575	T>A		No	ClinGen TOPMed
rs1343138979 CA396708084	575	T>M		No	ClinGen TOPMed gnomAD
rs1235084204 CA396708094	576	D>G		No	ClinGen gnomAD
CA8160390 rs754044294	580	I>T		No	ClinGen ExAC gnomAD
CA283683297 rs927045498	582	C>R		No	ClinGen TOPMed
CA396708188 rs1218669009	582	C>Y		No	ClinGen TOPMed
rs1597444285 CA396708197	583	T>P		No	ClinGen Ensembl
CA8160391 rs755422982	585	P>R		No	ClinGen ExAC gnomAD
CA396708234 rs1467870826	585	P>S		No	ClinGen gnomAD
TCGA novel	587	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765651574 CA8160392	589	A>P		No	ClinGen ExAC gnomAD
CA396708293 rs1366174840	590	A>S		No	ClinGen Ensembl
rs1046995419 CA283683326	591	M>T		No	ClinGen gnomAD
rs1476447244 CA396708341	593	V>A		No	ClinGen gnomAD
rs1300318165 CA396708360	595	K>E		No	ClinGen TOPMed
rs758805198 CA8160394	596	R>K		No	ClinGen ExAC gnomAD
CA283683377 rs1048763811	598	S>N		No	ClinGen TOPMed gnomAD
rs1005347045 CA283683389	600	E>D		No	ClinGen Ensembl
CA8160395 rs777409230	600	E>Q		No	ClinGen ExAC gnomAD
CA8160397 CA396708467 CA8160396 rs746488775	601	M>I		No	ClinGen ExAC gnomAD
TCGA novel	603	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780828640 RCV001318922 COSM973457 CA8160398	603	G>E	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA8160399 rs745472031	604	N>D		No	ClinGen ExAC gnomAD
CA8160400 rs745472031	604	N>H		No	ClinGen ExAC gnomAD
rs775116319 CA8160402	604	N>I		No	ClinGen ExAC TOPMed gnomAD
rs775116319 CA8160401	604	N>S		No	ClinGen ExAC TOPMed gnomAD
rs147033163 CA8160404	605	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs760838646 CA8160405 RCV001295426	605	L>P		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs777017958 CA8160407	607	E>K		No	ClinGen ExAC TOPMed gnomAD
rs764053841 CA283683472	608	E>D		No	ClinGen Ensembl
rs765677017 CA8160409	608	E>Q		No	ClinGen ExAC gnomAD
CA8160440 rs748138635	609	V>L		No	ClinGen ExAC
CA8160442 rs200372332	614	R>C		No	ClinGen 1000Genomes ExAC gnomAD
rs1214753965 CA396708860	619	T>I		No	ClinGen gnomAD
CA283683900 rs267604627	620	S>L		No	ClinGen Ensembl
rs1365664234 CA396708964	624	L>F		No	ClinGen TOPMed gnomAD
rs1300827179 CA396708956	624	L>S		No	ClinGen TOPMed
CA283683914 rs908857728	625	I>L		No	ClinGen TOPMed gnomAD
CA396709003 rs1437493098	626	K>N		No	ClinGen gnomAD
rs775609494 CA8160445	628	M>I		No	ClinGen ExAC gnomAD
RCV001045398 rs2042137385	638	L>P		No	ClinVar dbSNP
CA8160450 rs768022071 COSM1203558	639	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA8160449 rs147679168	639	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA396709373 rs1228930974	644	D>N		No	ClinGen gnomAD
CA396709420 rs1215864809	646	Y>C		No	ClinGen gnomAD
rs760133863 CA396709456	649	I>L		No	ClinGen ExAC TOPMed gnomAD
CA8160452 rs760133863	649	I>V		No	ClinGen ExAC TOPMed gnomAD
CA8160453 rs765863247	650	I>V		No	ClinGen ExAC gnomAD
rs1226857663 CA396709487	651	M>V		No	ClinGen TOPMed
TCGA novel	652	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753480712 CA8160455	655	H>Q		No	ClinGen ExAC TOPMed gnomAD
COSM3721475 rs778919889 CA8160456	656	E>K	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs558796304 CA283684023	657	R>C		No	ClinGen 1000Genomes
rs1242974689 CA396709645	657	R>H		No	ClinGen gnomAD
rs777861936 CA8160459	658	S>C		No	ClinGen ExAC gnomAD
rs1320429536 CA396709685	659	L>P		No	ClinGen gnomAD
CA396709704 rs1339758457	660	N>H		No	ClinGen TOPMed
CA8160460 rs746929014	661	T>I		No	ClinGen ExAC gnomAD
CA396709734 rs746929014	661	T>S		No	ClinGen ExAC gnomAD
CA8160463 rs370417605	662	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	663	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8160466 rs544416921	669	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8160465 rs544416921	669	R>Q	Variant assessed as Somatic; 4.626e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs768906345 CA8160464	669	R>W		No	ClinGen ExAC TOPMed gnomAD
CA396709929 rs1163604909	670	E>D		No	ClinGen gnomAD
CA396710545 rs1174917221	671	V>L		No	ClinGen gnomAD
CA8160499 rs755072364	673	A>D		No	ClinGen ExAC gnomAD
rs1414330529 CA396710559	673	A>S		No	ClinGen gnomAD
CA8160501 rs201984534	674	R>P		No	ClinGen ExAC TOPMed gnomAD
rs201984534 CA283684742	674	R>Q		No	ClinGen ExAC TOPMed gnomAD
RCV001304233 rs778940669 CA8160500	674	R>W		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA396710567 COSM1302233 rs1284129655	675	R>H	Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1597444983 CA396710578	677	D>A		No	ClinGen Ensembl
rs778058374 CA8160503	677	D>H		No	ClinGen ExAC
CA8160505 rs771134661	681	I>V		No	ClinGen ExAC gnomAD
CA8160507 rs746331841	682	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8160509 rs775111111	686	T>M		No	ClinGen ExAC TOPMed gnomAD
rs762749883 CA8160510	687	M>V		No	ClinGen ExAC gnomAD
rs2042146362 RCV001338407	689	A>V		No	ClinVar dbSNP
TCGA novel	693	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1597445022 CA396710698	695	F>S		No	ClinGen Ensembl
CA396710709 rs373027022	696	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA396710733 rs1477442141	700	P>R		No	ClinGen gnomAD
rs767167121 CA8160514	700	P>S		No	ClinGen ExAC gnomAD
rs767167121 CA396710730	700	P>T		No	ClinGen ExAC gnomAD
TCGA novel	701	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8160515 RCV001213132 rs575713511	701	I>V		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA8160516 rs760573885	703	H>R		No	ClinGen ExAC TOPMed gnomAD
rs765366544 CA8160517	707	R>C		No	ClinGen ExAC TOPMed gnomAD
rs752762438 CA8160518	707	R>H		No	ClinGen ExAC TOPMed gnomAD
rs752762438 CA396710779	707	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1597445063 CA396710781	708	T>A		No	ClinGen Ensembl
CA396710799 rs1567608491	710	P>R		No	ClinGen Ensembl
CA8160520 rs778061162	713	I>V		No	ClinGen ExAC gnomAD
CA8160522 rs757667383	714	L>H		No	ClinGen ExAC gnomAD
CA283684891 rs868484317	715	F>L		No	ClinGen Ensembl
rs1468799097 CA396710885	717	K>E		No	ClinGen gnomAD
CA396710888 rs1316121408	717	K>R		No	ClinGen TOPMed
CA396711095 rs1567608840	723	Y>C		No	ClinGen Ensembl
rs766828382 CA8160560	724	V>L		No	ClinGen ExAC gnomAD
CA8160561 RCV001343316 rs766828382	724	V>M		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs755434661 CA8160562	725	E>V		No	ClinGen ExAC TOPMed gnomAD
rs1378741308 CA396711185	728	V>E		No	ClinGen gnomAD
rs1439348766 CA396711231	730	Q>P		No	ClinGen gnomAD
CA8160563 rs372106452	731	S>A		No	ClinGen ESP ExAC gnomAD
rs1377367652 CA396711254	731	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
RCV001337874 rs1301087578 CA396711290	733	Q>H		No	ClinGen ClinVar dbSNP gnomAD
TCGA novel	734	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8160564 rs747627084	734	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1308658867 CA396711316	735	H>Y		No	ClinGen gnomAD
rs757861343 CA8160565	737	S>L		No	ClinGen ExAC TOPMed gnomAD
RCV001213673 rs149505110 CA8160567	738	G>E		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA396711361 rs1386554399	738	G>W		No	ClinGen TOPMed
TCGA novel	739	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396711370 rs201461331	739	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA8160569 rs201461331	739	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8160572 rs775427416	740	P>L		No	ClinGen ExAC gnomAD
CA8160571 RCV001232333 rs769608483	740	P>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA396711431 rs1236753685	743	I>V		No	ClinGen gnomAD
rs1194509584 CA396711450	744	L>V		No	ClinGen gnomAD
rs1445631640 CA396711468	745	I>F		No	ClinGen TOPMed
rs767652246 CA8160574	747	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
CA396711524 rs1365407814	748	P>A		No	ClinGen Ensembl
CA283685422 rs981968855	752	D>G		No	ClinGen TOPMed
rs766916615 CA8160577	753	I>M		No	ClinGen ExAC gnomAD
CA396711614 rs760947148	753	I>N		No	ClinGen ExAC TOPMed gnomAD
CA8160576 rs760947148	753	I>T		No	ClinGen ExAC TOPMed gnomAD
CA8160602 rs751058597	756	T>I		No	ClinGen ExAC gnomAD
CA396711812 rs756701702	762	E>A		No	ClinGen ExAC gnomAD
CA8160603 rs756701702	762	E>G		No	ClinGen ExAC gnomAD
rs1276926640 CA396711803	762	E>K		No	ClinGen TOPMed gnomAD
CA396711806 rs1276926640	762	E>Q		No	ClinGen TOPMed gnomAD
CA396711827 rs1234329941	763	H>Y		No	ClinGen gnomAD
CA396711872 rs1450003326	766	E>K		No	ClinGen TOPMed
rs1292509198 CA396711892	767	L>M		No	ClinGen TOPMed gnomAD
CA396711895 rs1292509198	767	L>V		No	ClinGen TOPMed gnomAD
CA396711909 rs1224684655	768	E>Q		No	ClinGen TOPMed
CA283685592 rs900703623	770	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA8160606 rs755907524	770	A>V		No	ClinGen ExAC TOPMed gnomAD
CA396711969 rs1260987239	771	P>L		No	ClinGen gnomAD
CA396711974 rs1477471382 COSM1203559	772	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
RCV001060325 CA396711982 rs1188329722	772	A>V		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs768701016 CA8160609	778	I>V		No	ClinGen ExAC TOPMed gnomAD
rs999939641 CA283685643	779	Y>H		No	ClinGen Ensembl
rs1421044461 CA396712139	780	S>F		No	ClinGen gnomAD
rs771096826 CA8160612	789	K>E		No	ClinGen ExAC gnomAD
CA396712322 rs1406144372	789	K>N		No	ClinGen TOPMed
rs200450334 CA283685685	790	I>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA396712331 rs1567609126	790	I>V		No	ClinGen Ensembl
CA396712484 rs1453949268	794	A>D		No	ClinGen gnomAD
CA396712486 rs1453949268	794	A>V		No	ClinGen gnomAD
CA8160642 rs753500280	795	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8160645 rs371172065	799	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA396712517 rs1414419396	799	R>W		No	ClinGen TOPMed gnomAD
rs200960116 CA8160646	802	I>S		No	ClinGen 1000Genomes ExAC gnomAD
CA396712545 rs1402911992	802	I>V		No	ClinGen gnomAD
rs756084518 CA8160649	803	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1438762526 CA396712566	804	A>V		No	ClinGen gnomAD
rs1597445967 CA396712583	806	N>I		No	ClinGen Ensembl
rs1167447709 CA396712589	807	I>V		No	ClinGen TOPMed gnomAD
CA396712597 rs749485497	808	A>S		No	ClinGen ExAC TOPMed gnomAD
CA8160651 rs749485497	808	A>T		No	ClinGen ExAC TOPMed gnomAD
CA8160653 rs774690442	809	E>K		No	ClinGen ExAC gnomAD
rs2042164304 RCV001222805	810	T>A		No	ClinVar dbSNP
TCGA novel	810	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8160656 rs773525208	816	G>S		No	ClinGen ExAC gnomAD
CA396712747 rs1567609379	823	S>T		No	ClinGen Ensembl
rs371648968 CA283686099	827	K>R		No	ClinGen ESP TOPMed
rs759235532 CA8160660 CA396712818	829	K>N		No	ClinGen ExAC gnomAD
CA8160686 rs542087489	832	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA396712883 rs542087489	832	N>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1014748960 CA283686654	833	P>S		No	ClinGen TOPMed
CA283686664 RCV001041598 rs963172083	834	R>K		No	ClinGen ClinVar TOPMed dbSNP
CA8160688 rs766501167 COSM1679257	835	I>N	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed
rs779137432 CA8160691	841	Q>H		No	ClinGen ExAC
CA396712994 rs1257281986	843	Y>C		No	ClinGen gnomAD
rs758847706 CA8160693	844	P>L		No	ClinGen ExAC gnomAD
rs752812393 CA8160692	844	P>S		No	ClinGen ExAC gnomAD
TCGA novel	847	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8160694 rs777969746	847	Q>R		No	ClinGen ExAC gnomAD
rs747620245 CA8160695	848	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	849	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8160696 rs771552847	849	N>K		No	ClinGen ExAC gnomAD
CA396713072 rs1597446366	851	N>T		No	ClinGen Ensembl
CA8160697 rs781742789	853	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1447959827 CA396713090 RCV001244356	853	R>W		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs745378759 CA8160699	856	R>*		No	ClinGen ExAC gnomAD
CA8160698 rs745378759	856	R>G		No	ClinGen ExAC gnomAD
rs1397615764 CA396713113	856	R>Q		No	ClinGen gnomAD
RCV001325897 CA396713126 rs1484814310	858	G>S		No	ClinGen ClinVar TOPMed dbSNP
RCV001208308 CA283686722 rs372311072	860	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ESP NCI-TCGA TOPMed dbSNP gnomAD
rs377108419 CA283686726	862	P>R		No	ClinGen ESP TOPMed
rs768558787 CA8160702	864	Q>H		No	ClinGen ExAC gnomAD
CA8160703 rs774001433	865	C>Y		No	ClinGen ExAC gnomAD
CA283686748 rs994572951	867	R>M		No	ClinGen TOPMed
CA396713636 rs1451765889	867	R>S		No	ClinGen TOPMed
CA396713218 rs994572951	867	R>T		No	ClinGen TOPMed
rs913734121 CA283690186	869	Y>H		No	ClinGen Ensembl
rs763033504 CA283690210	872	S>I		No	ClinGen ExAC
rs763033504 CA8160727	872	S>N		No	ClinGen ExAC
rs775421345 CA8160726	872	S>R		No	ClinGen ExAC gnomAD
CA8160729 rs751768845	873	A>S		No	ClinGen ExAC TOPMed gnomAD
CA396713691 rs751768845	873	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1293548189 CA396713704	874	Y>C		No	ClinGen gnomAD
CA396713718 rs1369183695	875	K>N		No	ClinGen TOPMed gnomAD
CA8160730 rs757721832	876	N>K		No	ClinGen ExAC gnomAD
rs756673285 CA396713769	881	T>I		No	ClinGen ExAC gnomAD
rs756673285 CA8160733	881	T>N		No	ClinGen ExAC gnomAD
CA396713793 rs1222605524	885	E>K		No	ClinGen gnomAD
rs1597447223 CA396713808	886	I>T		No	ClinGen Ensembl
rs1487583924 CA396713836	889	T>S		No	ClinGen gnomAD
RCV001227860 rs2042193485	892	A>G		No	ClinVar dbSNP
CA396713875 rs1329636012	893	N>I		No	ClinGen TOPMed
rs1478117513 CA396713915	898	L>V		No	ClinGen gnomAD
rs1220818057 CA396713925	899	K>Q		No	ClinGen Ensembl
CA396713942 rs1401064815	901	L>F		No	ClinGen TOPMed
rs374391366 CA8160738	902	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs896703184 CA396713966	903	V>L		No	ClinGen gnomAD
rs896703184 CA283690284	903	V>M		No	ClinGen gnomAD
rs1351087582 CA396713977	904	Q>*		No	ClinGen gnomAD
CA283690297 rs1014176704	904	Q>H		No	ClinGen Ensembl
CA396714096 rs1276633691	912	M>V		No	ClinGen gnomAD
CA283690340 rs565239211	914	P>L		No	ClinGen gnomAD
CA283690370 rs995578851	916	P>L		No	ClinGen Ensembl
TCGA novel	917	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	924	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8160747 rs201233417	924	M>V		No	ClinGen ExAC gnomAD
rs954063306 CA283690377	926	Q>H		No	ClinGen TOPMed gnomAD
rs750826832 CA8160749	928	W>*		No	ClinGen ExAC
rs768047552 CA8160748	928	W>G		No	ClinGen ExAC gnomAD
rs1485446269 CA396714396	931	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1415450076 CA396714416	932	A>S		No	ClinGen gnomAD
rs1415450076 CA396714411	932	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs766823639 CA8160751	934	D>Y		No	ClinGen ExAC gnomAD
COSM973461 CA8160753 rs754495430	935	N>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
TCGA novel	935	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396714570 rs1458828311	938	G>S		No	ClinGen gnomAD
CA396714608 rs1178993099	940	T>I		No	ClinGen gnomAD
rs767582321 RCV001225944	942	T>missing		No	ClinVar dbSNP
CA8160783 rs748267362	942	T>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	943	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396714634 rs1296049923	943	G>R		No	ClinGen TOPMed
CA8160786 rs748855050	944	R>W		No	ClinGen ExAC gnomAD
rs1238539822 CA396714666	946	M>V		No	ClinGen TOPMed gnomAD
rs759763279 CA8160789	950	P>L		No	ClinGen ExAC gnomAD
rs371210072 CA283690608	952	D>H		No	ClinGen Ensembl
rs775937765 CA8160791	954	A>S		No	ClinGen ExAC gnomAD
rs756934503 CA8160797	957	K>M		No	ClinGen ExAC gnomAD
CA8160796 rs756934503	957	K>R		No	ClinGen ExAC gnomAD
rs1597447506 CA396715062	964	D>N		No	ClinGen Ensembl
RCV001337219 rs780160485 CA396715083 CA8160801	965	M>L		No	ClinGen ExAC TOPMed gnomAD ClinVar dbSNP
CA8160800 rs780160485	965	M>V		No	ClinGen ExAC TOPMed gnomAD
rs758589733 CA8160802	966	G>D		No	ClinGen ExAC gnomAD
RCV000974642 rs11554765 CA8160804	969	S>F		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs777994979 CA8160803	969	S>T		No	ClinGen ExAC gnomAD
rs11554765 CA8160805	969	S>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA283690696 rs868315938	970	E>K		No	ClinGen gnomAD
CA396715202 rs1194754790	971	I>N		No	ClinGen gnomAD
rs746277111 CA8160807	974	I>V		No	ClinGen ExAC gnomAD
CA396715253 rs1167626933	975	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs776027892 CA8160809	976	S>T		No	ClinGen ExAC gnomAD
CA396715282 rs1363593522	977	M>T		No	ClinGen gnomAD
rs1321693158 CA396715278	977	M>V		No	ClinGen gnomAD
CA8160811 rs763664494	980	V>A		No	ClinGen ExAC gnomAD
rs1276301193 CA396715367	982	A>V		No	ClinGen TOPMed
rs34482572 RCV001065134 CA8160812	983	I>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA396715428 rs1224754230	985	Y>C		No	ClinGen gnomAD
CA8160815 rs754260205	985	Y>S		No	ClinGen ExAC
rs1418888780 CA396715436	986	R>G		No	ClinGen TOPMed gnomAD
CA396715469 rs1292750525	988	K>N		No	ClinGen TOPMed
CA8160816 rs761157556	988	K>Q		No	ClinGen ExAC gnomAD
CA396715554 rs1446813763	990	R>*		No	ClinGen gnomAD
CA396715608 rs1211077003	995	D>H		No	ClinGen TOPMed
CA396715622 rs1334434944	996	Q>H		No	ClinGen gnomAD
CA283691206 rs904519773	998	R>G		No	ClinGen gnomAD
CA396715641 rs1347660881	999	E>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	1000	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8160847 rs749679563	1003	V>L		No	ClinGen ExAC gnomAD
rs377099982 CA8160848	1005	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs748583809 CA8160850	1010	T>S		No	ClinGen ExAC gnomAD
CA396715728 rs1377960926	1012	L>V		No	ClinGen gnomAD
CA8160853 rs760196914	1017	Q>*		No	ClinGen ExAC TOPMed gnomAD
RCV001341259 CA396715776 rs1404849186	1019	K>E		No	ClinGen ClinVar dbSNP gnomAD
CA396715787 rs1465822405	1020	N>S		No	ClinGen gnomAD
rs1325817151 CA396715795	1021	N>S		No	ClinGen TOPMed
rs372371401 CA8160855	1022	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA283691241 rs1012466749	1024	S>Y		No	ClinGen gnomAD
rs1391314121 CA396715824	1025	T>I		No	ClinGen gnomAD
CA8160856 rs759434051	1026	I>V		No	ClinGen ExAC gnomAD
CA8160857 rs764908568	1028	C>F		No	ClinGen ExAC gnomAD
CA396715874 rs1399574643	1029	N>S		No	ClinGen TOPMed
CA8160858 rs752727050	1029	N>Y		No	ClinGen ExAC gnomAD
CA396715887 rs1200820767	1030	D>A		No	ClinGen gnomAD
rs201741501 CA8160860	1030	D>N		No	ClinGen ESP ExAC gnomAD
rs1463937297 CA396715904	1031	H>R		No	ClinGen TOPMed
CA8160862 rs756141729	1033	I>F		No	ClinGen ExAC gnomAD
rs531413919 CA8160863	1033	I>T		No	ClinGen ExAC gnomAD
CA283691288 rs756141729 RCV001314493	1033	I>V		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs1481394708 CA396715930	1035	A>S		No	ClinGen gnomAD
rs1269925684 CA396715936	1036	K>E		No	ClinGen gnomAD
CA396715959 rs1455250289	1038	M>I		No	ClinGen gnomAD
CA8160866 rs533672883	1038	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs970695155 CA283691331	1038	M>V		No	ClinGen TOPMed
CA283691346 rs926645335	1039	R>G		No	ClinGen TOPMed gnomAD
rs748758426 CA8160867	1039	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA396715962 COSM973463 rs926645335	1039	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs942888461 RCV001229672 CA283691502	1042	R>Q		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1353239879 CA396716016	1042	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA396716028 rs1357454876	1043	E>A		No	ClinGen gnomAD
CA283691510 rs376787122	1043	E>D		No	ClinGen ESP gnomAD
RCV001054618 CA396716023 rs1374089277	1043	E>K		No	ClinGen ClinVar TOPMed dbSNP
rs756873974 CA8160893	1044	V>M		No	ClinGen ExAC gnomAD
rs780833182 CA8160895	1045	R>*		No	ClinGen ExAC gnomAD
CA8160894 rs780833182	1045	R>G		No	ClinGen ExAC gnomAD
rs534381710 RCV001245614 CA8160896	1045	R>Q		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA396716054 rs1447114855	1046	A>V		No	ClinGen TOPMed
CA396716083 rs1244413569	1049	K>N		No	ClinGen gnomAD
CA396716082 rs1182158820	1049	K>R		No	ClinGen gnomAD
rs1049389423 CA283691536	1052	M>T		No	ClinGen TOPMed
rs775146582 RCV001304247 CA8160897	1052	M>V		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs749072478 CA8160898	1056	R>W		No	ClinGen ExAC gnomAD
CA396716170 rs1402956202	1058	S>R		No	ClinGen gnomAD
rs904228460 CA283691553	1059	L>Q		No	ClinGen TOPMed
TCGA novel	1060	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8160900 rs774324893	1061	S>L		No	ClinGen ExAC TOPMed gnomAD
CA8160903 rs776697665	1062	C>W		No	ClinGen ExAC gnomAD
rs752923486 CA8160906	1065	D>N		No	ClinGen ExAC gnomAD
rs1472062286 CA396716251	1066	W>*		No	ClinGen TOPMed
CA8160907 rs758729606	1067	D>Y		No	ClinGen ExAC gnomAD
CA283691619 rs1032015879	1068	I>V		No	ClinGen TOPMed gnomAD
rs1316163631 CA396716283	1069	V>I		No	ClinGen gnomAD
rs1488196564 CA396716292	1070	R>K		No	ClinGen TOPMed
rs1264566774 CA396716320	1072	C>Y		No	ClinGen gnomAD
CA396716333 rs1238264478	1073	I>M		No	ClinGen gnomAD
CA396716326 rs1182367540	1073	I>V		No	ClinGen gnomAD
TCGA novel	1079	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781735500 CA8160911 RCV001300458	1079	H>Y		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA396716406 rs1434164217	1080	Q>*		No	ClinGen gnomAD
CA396716431 rs1179056834	1082	A>V		No	ClinGen gnomAD
rs779617041 CA8160914	1083	K>R		No	ClinGen ExAC gnomAD
CA396716531 rs1341064394	1088	G>W		No	ClinGen gnomAD
rs1597448504 CA396716544	1089	E>G		No	ClinGen Ensembl
TCGA novel	1090	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1597448506 CA396716553	1090	Y>D		No	ClinGen Ensembl
TCGA novel	1091	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396716567 rs1398815604	1091	V>M		No	ClinGen TOPMed
CA8160926 rs751974080	1092	N>D		No	ClinGen ExAC gnomAD
rs1172986698 CA396716578	1092	N>S		No	ClinGen TOPMed
TCGA novel	1094	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396716659 rs1267173995	1099	C>*		No	ClinGen gnomAD
CA396716684 rs1490302891	1101	L>F		No	ClinGen gnomAD
rs1424704311 CA396716689	1102	H>P		No	ClinGen TOPMed
CA396716687 rs1597448535	1102	H>Y		No	ClinGen Ensembl
rs1455768301 CA396716706	1103	P>L		No	ClinGen TOPMed
rs755633146 CA396716708	1104	T>A		No	ClinGen ExAC gnomAD
TCGA novel	1104	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8160930 rs755633146	1104	T>P		No	ClinGen ExAC gnomAD
rs779606017 CA8160931	1105	S>G		No	ClinGen ExAC gnomAD
CA396716723 rs1167350411	1105	S>I		No	ClinGen gnomAD
rs753503526 CA8160932	1110	M>V		No	ClinGen ExAC gnomAD
CA396716781 rs1165435485	1111	G>D		No	ClinGen gnomAD
CA8160933 rs754631883	1112	Y>C		No	ClinGen ExAC gnomAD
CA8160934 rs778481098	1113	T>I		No	ClinGen ExAC TOPMed gnomAD
rs571300179 CA283692048	1117	I>M		No	ClinGen Ensembl
CA8160937 rs777611548	1117	I>T		No	ClinGen ExAC gnomAD
rs1327952544 CA396716891	1119	Y>C		No	ClinGen Ensembl
CA396716913 rs370276065	1120	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1249611694 CA396716910	1120	H>R		No	ClinGen TOPMed
rs1359584289 CA396716919	1121	E>K		No	ClinGen TOPMed gnomAD
CA396716968 rs1372744128	1124	M>I		No	ClinGen TOPMed
rs1359398151 CA396716958	1124	M>V		No	ClinGen gnomAD
CA396716991 rs1206025368	1126	T>A		No	ClinGen gnomAD
rs1303489043 CA396716993	1126	T>I		No	ClinGen TOPMed
CA283692105 rs878894338	1127	K>Q		No	ClinGen Ensembl
CA8160964 rs760891426	1130	M>V		No	ClinGen ExAC gnomAD
rs1439847319 CA396717165	1132	C>Y		No	ClinGen TOPMed
CA8160966 rs777082485	1134	T>I		No	ClinGen ExAC gnomAD
rs151006640 CA396717197	1135	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8160967 rs151006640	1135	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1238732747 CA396717206	1136	V>M		No	ClinGen gnomAD
CA283692587 rs200604949	1137	D>Y		No	ClinGen 1000Genomes gnomAD
CA8160969 rs752404534	1138	G>R		No	ClinGen ExAC gnomAD
rs77172371 CA8160970	1142	A>G		No	ClinGen ExAC gnomAD
RCV001342372 rs77172371 CA8160971	1142	A>V		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs756951841 CA8160974	1143	E>G		No	ClinGen ExAC gnomAD
rs745766528 CA8160977	1144	L>R		No	ClinGen ExAC gnomAD
rs781216872 CA8160976	1144	L>V		No	ClinGen ExAC gnomAD
rs755171444 CA8160978	1146	P>T		No	ClinGen ExAC gnomAD
CA396717360 rs1462004519	1147	M>I		No	ClinGen TOPMed gnomAD
rs1376550254 CA396717352	1147	M>L		No	ClinGen gnomAD
rs536514610 COSM3957807 CA283692634	1149	Y>C	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1394880972 CA396717418	1151	V>M		No	ClinGen TOPMed gnomAD
rs929926775 CA283692650 RCV001050373	1154	A>V		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs150139686 CA8160981	1156	K>T		No	ClinGen ESP ExAC
rs773260427 CA8160982	1157	S>*		No	ClinGen ExAC gnomAD
RCV001229725 CA283692677 rs954216217	1158	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD
CA396717522 rs1484925357	1158	R>W		No	ClinGen TOPMed
CA8160985 rs777172293	1159	Q>*		No	ClinGen ExAC gnomAD
CA8161013 rs766450703	1160	E>K		No	ClinGen ExAC gnomAD
rs1597450389 CA396718249	1161	N>T		No	ClinGen Ensembl
rs753686955 CA8161014	1162	R>C		No	ClinGen ExAC TOPMed gnomAD
CA8161016 rs777703537	1163	R>C		No	ClinGen ExAC gnomAD
rs1311736252 CA396718266	1163	R>H		No	ClinGen TOPMed gnomAD
CA396718278 rs1051798890	1164	R>L		No	ClinGen gnomAD
CA283693872 rs1051798890	1164	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs527587650 COSM1203557 CA8161017	1164	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs757473166 CA8161018	1166	K>R		No	ClinGen ExAC gnomAD
rs1472694986 CA396718350	1168	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1244511955 CA396718355	1169	A>S		No	ClinGen gnomAD
rs1443327443 CA396718365	1169	A>V		No	ClinGen TOPMed gnomAD
rs1008169552 CA283693898	1170	S>F		No	ClinGen gnomAD
CA396718396 rs1409151330	1172	M>V		No	ClinGen gnomAD
rs746253079 CA8161021	1174	E>K		No	ClinGen ExAC gnomAD
rs770100144 CA8161022	1175	E>K		No	ClinGen ExAC gnomAD
RCV001219372 rs2042248204	1177	A>V		No	ClinVar dbSNP
TCGA novel	1179	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396718535 rs1182330997	1180	E>*		No	ClinGen TOPMed
rs371083651 CA283693950	1180	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA396718534 rs1182330997	1180	E>K		No	ClinGen TOPMed
rs1302241979 CA396718557	1181	E>G		No	ClinGen gnomAD
CA396718543 rs1445687708	1181	E>K		No	ClinGen gnomAD
rs2042248697 RCV001345536	1182	Q>H		No	ClinVar dbSNP
RCV001055912 CA8161028 rs771877681	1184	R>*		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1286240734 CA396718596	1184	R>Q		No	ClinGen TOPMed gnomAD
CA283693961 rs868614922	1185	A>D		No	ClinGen Ensembl
rs1328034954 CA396718604	1185	A>T		No	ClinGen gnomAD
rs772960219 CA396718617	1186	R>L		No	ClinGen ExAC TOPMed gnomAD
rs772960219 CA8161029	1186	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA283693966 rs1021379081	1186	R>W		No	ClinGen TOPMed gnomAD
rs201730144 CA8161030	1187	R>W		No	ClinGen 1000Genomes ExAC gnomAD
rs1481906925 CA396718676	1189	E>G		No	ClinGen gnomAD
rs1175784265 CA396718687	1190	Q>*		No	ClinGen gnomAD
CA396718689 rs1175784265	1190	Q>E		No	ClinGen gnomAD
CA8161033 RCV001203659 rs201257449	1190	Q>R		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs556300781 CA8161034	1192	K>N		No	ClinGen 1000Genomes ExAC gnomAD
rs751603973 CA8161035	1193	R>C		No	ClinGen ExAC gnomAD
rs1427263381 CA396718756	1193	R>H		No	ClinGen gnomAD
rs1444364279 CA396718811	1197	G>D		No	ClinGen gnomAD
CA396718806 rs1354980507	1197	G>S		No	ClinGen gnomAD
TCGA novel	1198	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396718817 rs1386406343	1198	S>G		No	ClinGen TOPMed
CA396718827 rs1349695228	1198	S>T		No	ClinGen gnomAD
rs1405158939 CA396718837	1199	V>I		No	ClinGen TOPMed gnomAD
CA396718834 rs1405158939	1199	V>L		No	ClinGen TOPMed gnomAD
RCV001240021 CA8161037 rs779997031	1200	R>K		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA8161058 rs564071619	1202	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA396719181 rs564071619	1202	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1407621313 CA396719186	1203	K>*		No	ClinGen TOPMed
CA396719185 rs1407621313	1203	K>E		No	ClinGen TOPMed
rs1248891404 CA396719197 RCV001323246	1204	I>F		No	ClinGen ClinVar dbSNP gnomAD
rs531516242 CA8161060	1205	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
CA8161062 rs748643643	1207	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA396719232 rs748643643	1207	P>R		No	ClinGen ExAC TOPMed gnomAD
CA8161064 rs777419050	1209	R>L		No	ClinGen ExAC TOPMed gnomAD
CA396719242 rs777419050	1209	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs758042333 CA8161063	1209	R>W		No	ClinGen ExAC TOPMed gnomAD
CA8161065 rs746452302	1210	K>N		No	ClinGen ExAC gnomAD
CA396719255 rs1461707208	1211	E>V		No	ClinGen TOPMed gnomAD
TCGA novel	1212	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1189585022 CA396719259	1212	Q>E		No	ClinGen gnomAD
CA8161066 rs770501194	1213	G>A		No	ClinGen ExAC gnomAD
rs192097920 CA283695034	1213	G>R		No	ClinGen 1000Genomes
rs780848345 CA8161067	1214	E>K		No	ClinGen ExAC gnomAD
rs745680032 CA8161068	1215	P>R		No	ClinGen ExAC gnomAD
rs769597104 CA8161069 CA396719289	1216	M>I		No	ClinGen ExAC gnomAD
VAR_015518	1217	T>A		No	UniProt
CA283695059 rs140035148 COSM107456	1218	P>L	skin [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
RCV001241225 rs772203418 CA8161072	1219	R>C		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs772203418 CA8161073	1219	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8161074 COSM300046 rs577985660	1219	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA8161075 rs766544740	1220	R>C		No	ClinGen ExAC gnomAD
rs754063843 CA8161076	1220	R>H		No	ClinGen ExAC TOPMed gnomAD
CA8161077 rs137867582 RCV000908398	1221	T>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA396719315 rs1263796341	1222	P>S		No	ClinGen gnomAD
rs1462749544 CA396719320	1223	A>S		No	ClinGen gnomAD
rs753324635 CA8161080	1224	R>C		No	ClinGen ExAC TOPMed gnomAD
CA8161079 rs753324635	1224	R>G		No	ClinGen ExAC TOPMed gnomAD
rs369140795 RCV001246441 CA8161081	1224	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1305136232 CA396719334	1225	F>L		No	ClinGen gnomAD
CA8161082 rs751135658	1226	G>S		No	ClinGen ExAC gnomAD
CA8161083 rs776387719	1227	L>S		No	ClinGen ExAC gnomAD
CA8161085 rs756750767	1227	L>V		No	ClinGen ExAC
rs747988652 CA8161084	1228	L>S		No	ClinGen ExAC

1 associated diseases with Q92620

[MIM: 618220]: Retinitis pigmentosa 84 (RP84)

A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP84 is an autosomal recessive, early onset form characterized by night blindness by age 4 and complete blindness by age 8. Funduscopy shows severely attenuated retinal vessels, severe macular atrophy, and prominent and deep macular colobomas lacking neuroretinal tissue. {ECO:0000269|PubMed:24737827, ECO:0000269|PubMed:30208423}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP84 is an autosomal recessive, early onset form characterized by night blindness by age 4 and complete blindness by age 8. Funduscopy shows severely attenuated retinal vessels, severe macular atrophy, and prominent and deep macular colobomas lacking neuroretinal tissue. {ECO:0000269|PubMed:24737827, ECO:0000269|PubMed:30208423}. Note=The disease is caused by variants affecting the gene represented in this entry.

6 regional properties for Q92620

Type	Name	Position	InterPro Accession
domain	Helicase, C-terminal	727 - 902	IPR001650
conserved_site	DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site	647 - 656	IPR002464
domain	Helicase-associated domain	922 - 1012	IPR007502
domain	DEAD/DEAH box helicase domain	536 - 688	IPR011545
domain	DEAD-box helicase, OB fold	1069 - 1146	IPR011709
domain	Helicase superfamily 1/2, ATP-binding domain	530 - 714	IPR014001

Functions

		Description
EC Number	3.6.4.13	Acting on ATP; involved in cellular and subcellular movement
Subcellular Localization	Nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
catalytic step 2 spliceosome	A spliceosomal complex that contains three snRNPs, including U5, bound to a splicing intermediate in which the first catalytic cleavage of the 5' splice site has occurred. The precise subunit composition differs significantly from that of the catalytic step 1, or activated, spliceosome, and includes many proteins in addition to those found in the associated snRNPs.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
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.
spliceosomal complex	Any of a series of ribonucleoprotein complexes that contain snRNA(s) and small nuclear ribonucleoproteins (snRNPs), and are formed sequentially during the spliceosomal splicing of one or more substrate RNAs, and which also contain the RNA substrate(s) from the initial target RNAs of splicing, the splicing intermediate RNA(s), to the final RNA products. During cis-splicing, the initial target RNA is a single, contiguous RNA transcript, whether mRNA, snoRNA, etc., and the released products are a spliced RNA and an excised intron, generally as a lariat structure. During trans-splicing, there are two initial substrate RNAs, the spliced leader RNA and a pre-mRNA.

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.
RNA binding	Binding to an RNA molecule or a portion thereof.
RNA helicase activity	Unwinding of an RNA helix, driven by ATP hydrolysis.

1 GO annotations of biological process

Name	Definition
mRNA splicing, via spliceosome	The joining together of exons from one or more primary transcripts of messenger RNA (mRNA) and the excision of intron sequences, via a spliceosomal mechanism, so that mRNA consisting only of the joined exons is produced.

11 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P36009	DHR2	Probable ATP-dependent RNA helicase DHR2	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
P15938	PRP16	Pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
P43329	hrpA	ATP-dependent RNA helicase HrpA	Escherichia coli (strain K12)	PR
O60231	DHX16	Pre-mRNA-splicing factor ATP-dependent RNA helicase DHX16	Homo sapiens (Human)	PR
Q8IX18	DHX40	Probable ATP-dependent RNA helicase DHX40	Homo sapiens (Human)	PR
Q6P158	DHX57	Putative ATP-dependent RNA helicase DHX57	Homo sapiens (Human)	PR
Q7L7V1	DHX32	Putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX32	Homo sapiens (Human)	PR
O43143	DHX15	ATP-dependent RNA helicase DHX15	Homo sapiens (Human)	PR
Q9H2U1	DHX36	ATP-dependent DNA/RNA helicase DHX36	Homo sapiens (Human)	PR
Q8IY37	DHX37	Probable ATP-dependent RNA helicase DHX37	Homo sapiens (Human)	PR
P34498	mog-1	Probable pre-mRNA-splicing factor ATP-dependent RNA helicase mog-1	Caenorhabditis elegans	PR

10	20	30	40	50	60
MGDTSEDASI	HRLEGTDLDC	QVGGLICKSK	SAASEQHVFK	APAPRPSLLG	LDLLASLKRR
70	80	90	100	110	120
EREEKDDGED	KKKSKVSSYK	DWEESKDDQK	DAEEEGGDQA	GQNIRKDRHY	RSARVETPSH
130	140	150	160	170	180
PGGVSEEFWE	RSRQRERERR	EHGVYASSKE	EKDWKKEKSR	DRDYDRKRDR	DERDRSRHSS
190	200	210	220	230	240
RSERDGGSER	SSRRNEPESP	RHRPKDAATP	SRSTWEEEDS	GYGSSRRSQW	ESPSPTPSYR
250	260	270	280	290	300
DSERSHRLST	RDRDRSVRGK	YSDDTPLPTP	SYKYNEWADD	RRHLGSTPRL	SRGRGRREEG
310	320	330	340	350	360
EEGISFDTEE	ERQQWEDDQR	QADRDWYMMD	EGYDEFHNPL	AYSSEDYVRR	REQHLHKQKQ
370	380	390	400	410	420
KRISAQRRQI	NEDNERWETN	RMLTSGVVHR	LEVDEDFEED	NAAKVHLMVH	NLVPPFLDGR
430	440	450	460	470	480
IVFTKQPEPV	IPVKDATSDL	AIIARKGSQT	VRKHREQKER	KKAQHKHWEL	AGTKLGDIMG
490	500	510	520	530	540
VKKEEEPDKA	VTEDGKVDYR	TEQKFADHMK	RKSEASSEFA	KKKSILEQRQ	YLPIFAVQQE
550	560	570	580	590	600
LLTIIRDNSI	VIVVGETGSG	KTTQLTQYLH	EDGYTDYGMI	GCTQPRRVAA	MSVAKRVSEE
610	620	630	640	650	660
MGGNLGEEVG	YAIRFEDCTS	ENTLIKYMTD	GILLRESLRE	ADLDHYSAII	MDEAHERSLN
670	680	690	700	710	720
TDVLFGLLRE	VVARRSDLKL	IVTSATMDAE	KFAAFFGNVP	IFHIPGRTFP	VDILFSKTPQ
730	740	750	760	770	780
EDYVEAAVKQ	SLQVHLSGAP	GDILIFMPGQ	EDIEVTSDQI	VEHLEELENA	PALAVLPIYS
790	800	810	820	830	840
QLPSDLQAKI	FQKAPDGVRK	CIVATNIAET	SLTVDGIMFV	IDSGYCKLKV	FNPRIGMDAL
850	860	870	880	890	900
QIYPISQANA	NQRSGRAGRT	GPGQCFRLYT	QSAYKNELLT	TTVPEIQRTN	LANVVLLLKS
910	920	930	940	950	960
LGVQDLLQFH	FMDPPPEDNM	LNSMYQLWIL	GALDNTGGLT	STGRLMVEFP	LDPALSKMLI
970	980	990	1000	1010	1020
VSCDMGCSSE	ILLIVSMLSV	PAIFYRPKGR	EEESDQIREK	FAVPESDHLT	YLNVYLQWKN
1030	1040	1050	1060	1070	1080
NNYSTIWCND	HFIHAKAMRK	VREVRAQLKD	IMVQQRMSLA	SCGTDWDIVR	KCICAAYFHQ
1090	1100	1110	1120	1130	1140
AAKLKGIGEY	VNIRTGMPCH	LHPTSSLFGM	GYTPDYIVYH	ELVMTTKEYM	QCVTAVDGEW
1150	1160	1170	1180	1190	1200
LAELGPMFYS	VKQAGKSRQE	NRRRAKEEAS	AMEEEMALAE	EQLRARRQEQ	EKRSPLGSVR
1210	1220
STKIYTPGRK	EQGEPMTPRR	TPARFGL