AiPD: Autoinhibited Protein Database

Q96T60

Gene name	PNKP
Protein name	Bifunctional polynucleotide phosphatase/kinase
Names	DNA 5'-kinase/3'-phosphatase, Polynucleotide kinase-3'-phosphatase
Species	Homo sapiens (Human)
KEGG Pathway	hsa:11284
EC number	2.7.1.78: Phosphotransferases with an alcohol group as acceptor
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

6-76 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

6-76 (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

3 structures for Q96T60

Entry ID	Method	Resolution	Chain	Position	Source
2BRF	X-ray	140 A	A	1-110	PDB
2W3O	X-ray	185 A	A/B	1-110	PDB
AF-Q96T60-F1	Predicted				AlphaFoldDB

724 variants for Q96T60

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA309502616 RCV000648406 rs530767303	4	V>L	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes dbSNP
RCV001227721 rs1278449939 CA406893938	5	E>G	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000188465 RCV000456764 RCV000309427 RCV002415813 RCV000766601 rs201221600 CA316519	7	P>S	Developmental and epileptic encephalopathy, 12 Inborn genetic diseases Microcephaly, seizures, and developmental delay [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs2074827288 RCV001245330	9	R>L	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinVar dbSNP
CA316484 RCV000188447 rs376146751 RCV001245371	10	L>F	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA406893875 rs577282123 RCV001229995 CA406893873	11	W>C	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen 1000Genomes gnomAD ClinVar dbSNP
CA9587099 rs749769775 RCV001209775	14	S>N	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001307622 RCV001531905 CA9587096 CA9587097 rs751327913	14	S>R	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ExAC TOPMed gnomAD ClinVar dbSNP
rs1246416070 RCV001217975	16	P>missing	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinVar dbSNP
RCV002313678 CA9587092 RCV001131942 RCV001568021 rs201258910 RCV001297579	19	A>V	Developmental and epileptic encephalopathy, 12 Inborn genetic diseases Microcephaly, seizures, and developmental delay [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs3739168 RCV002311645 CA285671 VAR_019260 RCV000625160 RCV000081512 RCV001081799 RCV000230285	20	P>S	Developmental and epileptic encephalopathy, 12 Inborn genetic diseases Microcephaly, seizures, and developmental delay [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs3739168 RCV002483467 CA9587091 RCV000533660 RCV001770464	20	P>T	Developmental and epileptic encephalopathy, 12 Charcot-Marie-Tooth disease type 2B2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000791580 rs201748578 CA9587089	21	P>A	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1568663209 RCV001268593 RCV001880168 RCV000807769	22	I>missing	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinVar dbSNP
RCV000690672 rs756589726 RCV001131941 CA9587081	36	G>E	Developmental and epileptic encephalopathy, 12 Microcephaly, seizures, and developmental delay [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000810080 CA309502286 RCV001772092 rs949517384	36	G>R	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA309502282 rs756589726 RCV001242848	36	G>V	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs536541839 RCV000403129 CA10643122	37	P>A	Microcephaly, seizures, and developmental delay [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs536541839 CA9587080 RCV001053330	37	P>S	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs2074826042 RCV001240168	42	T>A	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinVar dbSNP
CA9587076 rs750026030 RCV002315279	42	T>R	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000765465 rs1568663138 RCV000689107 CA406893399	44	R>Q	Developmental and epileptic encephalopathy, 12 Microcephaly, seizures, and developmental delay [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV002462056 RCV000704636 rs766530579	48	R>missing	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinVar dbSNP
rs756746191 RCV000853401 CA9587073	50	Q>E	Ataxia - oculomotor apraxia type 4 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001262430 COSM1194314 COSM1194313 CA406893315 rs753839317	51	V>L	lung Microcephaly, seizures, and developmental delay [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
CA9587026 rs761948305 RCV002404305 RCV000497330	60	R>G	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000188423 rs374743798 CA316442 RCV000701603	60	R>Q	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV002315992 rs761948305 RCV000691178 CA406893106	60	R>W	Developmental and epileptic encephalopathy, 12 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1467903741 CA406893090 RCV001324304	62	V>M	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000147356 RCV000466098 CA251153 RCV000726472 RCV002312973 rs3739173 VAR_019261	63	A>V	Developmental and epileptic encephalopathy, 12 Inborn genetic diseases Microcephaly, seizures, and developmental delay [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA9586994 RCV001204331 rs747002499	67	L>R	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA9586992 rs772033320 RCV001240768	71	P>L	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001045864 rs2074810870	75	G>V	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinVar dbSNP
RCV000815798 rs1600421787 CA406891286	76	T>I	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV002431415 CA9586986 rs756169949 RCV001036474 RCV000486821	83	L>S	Developmental and epileptic encephalopathy, 12 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs2074810716 RCV001306075	84	E>A	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinVar dbSNP
rs780440711 RCV002514029 CA316446 RCV000801860	92	T>I	Developmental and epileptic encephalopathy, 12 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV002485165 RCV001129246 RCV000810387 RCV002433778 CA245332 RCV000178284 rs140290151	97	N>S	Developmental and epileptic encephalopathy, 12 Charcot-Marie-Tooth disease type 2B2 Microcephaly, seizures, and developmental delay Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000178285 rs587784367 CA245334 RCV000147357 RCV002433634	101	P>L	Variant assessed as Somatic; impact. Microcephaly, seizures, and developmental delay Inborn genetic diseases [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
rs115419706 RCV000464512 RCV000723658 CA223014 RCV002316251	103	T>I	Developmental and epileptic encephalopathy, 12 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1159790949 RCV001270026	104	L>P	Microcephaly, seizures, and developmental delay [ClinVar]	Yes	ClinVar dbSNP
CA309498650 rs1016887861 RCV000794475	105	R>C	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA9586974 RCV001231314 rs535302504	105	R>H	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000648427 RCV003162957 rs867937617 CA309498557	110	R>H	Developmental and epileptic encephalopathy, 12 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1239561285 RCV001295266	111	T>A	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinVar dbSNP
RCV001531904 rs567905136 RCV000648423 CA9586969	112	P>R	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs745505490 RCV001058986	122	T>missing	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinVar dbSNP
RCV002358854 RCV000648425 rs1555811583 CA406889492	132	D>H	Developmental and epileptic encephalopathy, 12 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000188426 RCV000648407 rs759530456 CA316448	136	P>A	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs11555414 RCV001236454 CA316450 RCV000188427	136	P>L	Developmental and epileptic encephalopathy, 12 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001051562 rs2074809327	136	P>missing	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinVar dbSNP
rs34472250 RCV001086537 RCV001815201 RCV003224167 RCV000433486 RCV002312656 RCV000515248 RCV000147358 CA234706	139	R>H	Developmental and epileptic encephalopathy, 12 Charcot-Marie-Tooth disease type 2B2 Microcephaly, seizures, and developmental delay Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002327014 CA316452 RCV000576288 RCV000188428 rs570013652	141	R>Q	Developmental and epileptic encephalopathy, 12 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA9586948 rs551774481 RCV000817055 RCV001507446	144	N>D	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
rs367883177 RCV001209723 CA309498412	144	N>K	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001306351 rs376383779 CA309498377	157	T>A	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ESP dbSNP
RCV001300332 rs2074808568	166	K>Q	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinVar dbSNP
rs929865929 CA406887562 RCV000684959	171	D>E	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA9586916 RCV001206858 rs142770020	174	G>R	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs2074802994 RCV001069146	175	T>M	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinVar dbSNP
CA250517 rs267606957 VAR_063835 RCV000005121	176	L>F	Variant assessed as Somatic; impact. Microcephaly, seizures, and developmental delay MCSZ [NCI-TCGA, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP
CA9586910 rs3739185 RCV001507445 RCV002345840 RCV000811329	180	R>C	Developmental and epileptic encephalopathy, 12 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs779492301 RCV000477175 CA9586909	180	R>H	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000081509 RCV002311643 RCV000625159 RCV000514942 rs3739185 RCV001082584 CA285669 VAR_019262 RCV002504997	180	R>S	Developmental and epileptic encephalopathy, 12 Charcot-Marie-Tooth disease type 2B2 Microcephaly, seizures, and developmental delay Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2074802768 RCV001300530	182	G>R	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinVar dbSNP
rs1600420665 CA406886895 RCV000798955	194	I>L	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000723659 CA223016 rs138931842 RCV000471291 RCV002316252	196	Y>C	Developmental and epileptic encephalopathy, 12 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs138931842 RCV001209141 CA9586878	196	Y>F	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002312584 RCV000147363 CA295148 rs3739186 VAR_019263 RCV000402812 RCV000513960 RCV001081044	196	Y>N	Developmental and epileptic encephalopathy, 12 Inborn genetic diseases Microcephaly, seizures, and developmental delay [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs201968000 RCV001304737 RCV001760360 CA9586875	197	P>T	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000501714 rs1555811465 RCV002527282 CA406886774	200	P>T	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001852233 RCV000179470 CA246728 rs150253619	201	R>H	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA9586869 RCV000815747 rs751820948	204	R>Q	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000179469 COSM3835404 COSM3835405 RCV002485174 rs773641701 RCV000232964 RCV002516792 CA246726	209	E>K	Developmental and epileptic encephalopathy, 12 Charcot-Marie-Tooth disease type 2B2 Variant assessed as Somatic; 0.0 impact. breast Inborn genetic diseases [ClinVar, NCI-TCGA, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1600420551 CA406886605 RCV000817872	211	Y>C	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA247260 RCV001079223 rs115259839 RCV001136203 RCV000724589 RCV002317059	217	T>S	Developmental and epileptic encephalopathy, 12 Microcephaly, seizures, and developmental delay Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs587784369 RCV000623130 RCV001857631 CA316458 RCV000725145	222	I>M	Developmental and epileptic encephalopathy, 12 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs764562312 COSM1239884 CA9586832 RCV001217623 COSM1239883	223	G>R	Developmental and epileptic encephalopathy, 12 oesophagus [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
RCV000766603 rs761117623 RCV001335538 RCV002362985 CA316462 RCV000188433 RCV001219120	224	R>C	Developmental and epileptic encephalopathy, 12 Variant assessed as Somatic; 4.68e-05 impact. Ataxia - oculomotor apraxia type 4 Inborn genetic diseases [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV002362781 rs199705876 COSM4127793 RCV000147366 CA251160 RCV000470510 COSM4127792 RCV000188478	224	R>H	Developmental and epileptic encephalopathy, 12 ovary Variant assessed as Somatic; 0.0 impact. Microcephaly, seizures, and developmental delay Inborn genetic diseases [ClinVar, Cosmic, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
COSM440010 rs144257114 RCV000725908 RCV001406955 COSM440009 RCV002314737 CA316464 RCV001136202	225	G>R	Developmental and epileptic encephalopathy, 12 breast Microcephaly, seizures, and developmental delay Inborn genetic diseases [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs746166841 RCV001296012 RCV000188435 CA316466	238	A>V	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1568661537 CA406886103 RCV002312483	239	V>A	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000497489 CA406886094 RCV001215721 rs1315272571	240	V>M	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV002379288 RCV000420129 RCV000815582 rs562480894 CA9586820	244	G>R	Developmental and epileptic encephalopathy, 12 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs147553148 RCV001217350 CA316468 RCV000188436	246	P>S	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA316470 rs538161505 RCV002514030 RCV000188437	253	T>M	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000658850 CA223018 RCV002513832 RCV001041238 rs398124249	255	A>T	Developmental and epileptic encephalopathy, 12 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001560614 CA406884161 rs1358481768 RCV000701622 RCV002406626	259	R>Q	Developmental and epileptic encephalopathy, 12 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001035729 CA9586800 rs368301643	259	R>W	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs755468325 CA9586799 RCV001664661 RCV001071215	261	P>L	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001861698 CA9586798 RCV000658436 rs766704284	263	T>M	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001297163 CA9586797 rs756988038	265	M>T	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1028247558 RCV001335539 CA309496190 RCV000807885	271	E>K	Developmental and epileptic encephalopathy, 12 Ataxia - oculomotor apraxia type 4 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1555811217 RCV002317886 RCV000648416	274	N>missing	Developmental and epileptic encephalopathy, 12 Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
rs1600418728 RCV000793680	274	N>missing	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinVar dbSNP
rs2074787530 RCV001343672	275	D>E	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinVar dbSNP
RCV002316089 rs1470797052 CA406882442	275	D>G	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001220911 rs746254179 CA9586762	276	G>R	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1453288814 RCV000576171 CA406882418	277	T>M	Developmental and epileptic encephalopathy, 12 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar NCI-TCGA dbSNP gnomAD
rs750224965 RCV000648433 CA248154 RCV000180636	285	I>V	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000188439 rs368887106 RCV000804653 CA316474	295	A>T	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000485178 CA9586720 RCV001369311 rs753695701	295	A>V	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA9586717 RCV001048547 RCV002374617 rs145615734 RCV000727274	298	A>V	Developmental and epileptic encephalopathy, 12 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001328606 rs2074784919 RCV002546267	299	P>L	Developmental and epileptic encephalopathy, 12 Ataxia - oculomotor apraxia type 4 [ClinVar]	Yes	ClinVar dbSNP
RCV000515347 RCV001087225 RCV002371929 rs201503405 RCV000278500 RCV000723674 CA223025	301	R>W	Developmental and epileptic encephalopathy, 12 Microcephaly, seizures, and developmental delay Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000558853 CA406881963 rs1555811171	302	K>N	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs2074784617 RCV001043154	306	F>missing	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinVar dbSNP
RCV000595877 rs1555811168 RCV002532675 CA406881876	307	S>F	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs886042225 RCV001855088 RCV000385967	307	S>missing	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinVar dbSNP
rs2074784418 RCV001049907	308	C>R	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinVar dbSNP
RCV001294727 CA309494477 rs771622669	308	C>W	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA9586707 RCV001205907 rs202022265	309	A>T	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001064427 CA9586700 rs372435922	311	R>H	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP
RCV000702956 CA406881367 rs1210892846	321	F>L	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA251167 RCV001055727 RCV000724557 RCV002371985 rs372148913 RCV000147374	323	T>M	Developmental and epileptic encephalopathy, 12 Inborn genetic diseases Microcephaly, seizures, and developmental delay [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA250516 VAR_063836 RCV001813953 RCV002512794 rs267606956 RCV000005119 RCV000188441	326	E>K	Developmental and epileptic encephalopathy, 12 Microcephaly, seizures, and developmental delay MCSZ; impaired recruitment to DNA damage sites [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP
CA309494204 RCV000648412 rs912223009 RCV000733006	327	F>L	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs772727116 RCV001857632 RCV000188442 CA316476	331	W>*	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs373922574 CA251169 RCV000227478 RCV000726751 RCV002381454 RCV000147375	332	P>S	Developmental and epileptic encephalopathy, 12 Microcephaly, seizures, and developmental delay Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA9586667 rs571217111 RCV001042244	334	A>V	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000494151 RCV003114620 rs1131691883	335	G>missing	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinVar dbSNP
RCV000765463 rs768567927 CA316478 RCV000188443	335	G>C	Microcephaly, seizures, and developmental delay [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000765464 RCV000706956 CA9586665 rs768567927	335	G>S	Developmental and epileptic encephalopathy, 12 Microcephaly, seizures, and developmental delay [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs747297456 RCV000805801 CA9586664	336	F>V	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP
RCV000541153 RCV001698362 RCV002436347 rs780121125 CA9586663	337	E>Q	Developmental and epileptic encephalopathy, 12 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs530663093 RCV000805586 CA9586637	348	R>C	Developmental and epileptic encephalopathy, 12 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA9586634 rs750098786 RCV002318667 RCV000796253	350	G>R	Developmental and epileptic encephalopathy, 12 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001759432 RCV000714527 CA406880064 RCV001219834 rs797045891	351	P>L	Developmental and epileptic encephalopathy, 12 Ataxia - oculomotor apraxia type 4 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001240620 rs2074777487	356	E>missing	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinVar dbSNP
RCV001059979 rs1366190965	357	S>missing	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinVar dbSNP
RCV001317979 CA406879914 rs1359253510	357	S>F	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000188482 rs796052865 RCV000576275	358	R>missing	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinVar dbSNP
rs1600417301 RCV000803512 CA406879903	358	R>K	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001041866 rs1473117442 CA406879734 RCV001335535	364	S>N	Developmental and epileptic encephalopathy, 12 Ataxia - oculomotor apraxia type 4 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV002456021 RCV000519264 CA309493812 rs755340060 RCV000576183	366	E>D	Developmental and epileptic encephalopathy, 12 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA309493774 rs945654606 RCV001325833	370	A>T	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001771969 rs760583725 RCV002440483 CA9586609 RCV000696471	374	P>S	Developmental and epileptic encephalopathy, 12 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA198504 RCV001268912 RCV000623823 VAR_073369 RCV000167523 rs786203983 RCV001813762 RCV000648410	375	G>W	Developmental and epileptic encephalopathy, 12 Ataxia - oculomotor apraxia type 4 Microcephaly, seizures, and developmental delay Inborn genetic diseases AOA4 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP
RCV000188448 CA316486 RCV000576223 rs777457079 RCV002317139	377	G>R	Developmental and epileptic encephalopathy, 12 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1600416892 RCV001004870 CA406879158	378	K>T	Microcephaly, seizures, and developmental delay [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA316488 RCV000188449 RCV001342662 rs796052855	382	L>P	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA406878911 rs1568659595 RCV002316157	386	L>F	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001038106 rs575803996 CA9586565 RCV001772216	389	A>S	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
rs575803996 CA406878834 RCV000705858	389	A>T	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
RCV001212694 RCV000174567 RCV002492735 rs772610025 CA240111	393	H>Y	Developmental and epileptic encephalopathy, 12 Charcot-Marie-Tooth disease type 2B2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs563918674 RCV000648411 RCV000996972 CA9586561	396	R>G	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001132805 CA406933651 rs1568659304	400	G>R	Microcephaly, seizures, and developmental delay [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA309540093 rs899556646 RCV001322874	401	S>C	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000812409 rs1568659036	402	W>missing	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinVar dbSNP
CA9586515 rs372404688 RCV001231907 RCV000420352	403	Q>*	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs768304312 RCV002516642 RCV001210502 RCV000174762 CA240323	404	R>C	Developmental and epileptic encephalopathy, 12 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002352458 RCV000821342 rs549069697 CA9586514	404	R>H	Developmental and epileptic encephalopathy, 12 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA9586512 RCV001057185 rs141938129	406	V>G	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs199652836 CA9586511 RCV000795575	407	T>P	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000500375 RCV001093540 rs786205207 RCV001268911 RCV001226527 RCV000170438	408	T>missing	Developmental and epileptic encephalopathy, 12 Charcot-Marie-Tooth disease type 2B2 Ataxia - oculomotor apraxia type 4 Microcephaly, seizures, and developmental delay [ClinVar]	Yes	ClinVar dbSNP
CA406933586 RCV000548145 rs774130130	408	T>K	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
VAR_073370	408	T>del	AOA4 [UniProt]	Yes	UniProt
rs1477525034 RCV001335536	409	C>*	Ataxia - oculomotor apraxia type 4 [ClinVar]	Yes	ClinVar dbSNP
RCV001231784 rs2074769803	409	C>F	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinVar dbSNP
rs886054583 RCV000358046	411	T>missing	Microcephaly, seizures, and developmental delay [ClinVar]	Yes	ClinVar dbSNP
RCV000494552 CA309540076 RCV000557730 rs868384150	411	T>I	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000464670 CA16616293 rs1060502500	412	A>V	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001244038 CA406933510 rs1198936842	416	G>E	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000162138 rs730882224	418	R>missing	Global developmental delay [ClinVar]	Yes	ClinVar dbSNP
CA316493 RCV000188452 rs748365843 RCV001255838	419	V>D	Microcephaly, seizures, and developmental delay [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs756416098 RCV002415812 RCV000576212 CA316491 RCV000188451	419	V>I	Developmental and epileptic encephalopathy, 12 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002318793 RCV001814226 rs768847609	420	A>missing	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
rs754981151 RCV001211075 CA316495 RCV000188453	420	A>S	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001215446 rs754981151	420	A>T	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinVar dbSNP
rs1600416052 RCV000995611	421	I>missing	Microcephaly, seizures, and developmental delay [ClinVar]	Yes	ClinVar dbSNP
rs1258095629 RCV000813992	424	T>missing	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinVar dbSNP
RCV000706286 rs587784365 RCV002415399 RCV000005120 RCV000167521 RCV000188471 RCV001257702 RCV001813954	424	T>missing	Developmental and epileptic encephalopathy, 12 Intellectual disability Ataxia - oculomotor apraxia type 4 Microcephaly, seizures, and developmental delay Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
RCV000188454 rs541840060 CA316497 RCV000648431	425	N>S	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000598923 RCV002448841 RCV002532707 rs764379536	427	D>missing	Developmental and epileptic encephalopathy, 12 Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
RCV001212353 rs1568659088	428	A>S	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinVar dbSNP
RCV001131824 rs769707108 CA9586489	429	A>G	Microcephaly, seizures, and developmental delay [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA891843760 RCV000686911 rs1568659063	429	A>L	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA309540022 RCV001321994 rs148386689	429	A>S	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001348521 CA9586491 rs148386689	429	A>T	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA309540019 RCV000648429 rs769707108	429	A>V	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs796052860 RCV001860590 RCV001008452	430	S>missing	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinVar dbSNP
RCV000690770 rs950502049 CA9586484	431	R>H	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs796052860 RCV002381634 RCV000188470	432	A>missing	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
rs2074764505 RCV001046013	435	V>missing	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinVar dbSNP
rs1568658756 RCV001321391	435	V>I	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinVar dbSNP
RCV000188455 RCV001064254 CA316499 rs780067167	436	Q>H	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA9586457 rs772111430 RCV001201945	437	C>R	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000434738 rs539286945 CA16608306 RCV000821367	439	R>*	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD
rs2074764098 RCV001203278	439	R>L	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinVar dbSNP
rs377688490 RCV000147347 CA251144 RCV000458378	440	A>G	Developmental and epileptic encephalopathy, 12 Microcephaly, seizures, and developmental delay [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001387495 rs796052862 RCV000188475 RCV001814094	441	A>missing	Developmental and epileptic encephalopathy, 12 Charcot-Marie-Tooth disease type 2B2 [ClinVar]	Yes	ClinVar dbSNP
RCV000226268 CA316501 rs549000007 RCV001131823 RCV001721212 RCV002314738 RCV000188456	441	A>G	Developmental and epileptic encephalopathy, 12 Microcephaly, seizures, and developmental delay Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP
RCV000576235 rs1351594110 CA406933226	441	A>T	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs549000007 RCV001295614 CA9586454	441	A>V	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP
RCV000167524 rs886037744	442	G>missing	Ataxia - oculomotor apraxia type 4 [ClinVar]	Yes	ClinVar dbSNP
rs1360064159 RCV001299330	442	G>D	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinVar dbSNP
RCV000622530 RCV000725883 rs372459137 RCV000576190 CA316503	442	G>S	Developmental and epileptic encephalopathy, 12 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001205561 rs1191025361 CA406933194	444	P>S	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000701866 CA406933078 rs1455514180 RCV002386249	453	T>N	Developmental and epileptic encephalopathy, 12 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000472592 RCV002055206 RCV000188416 RCV000723672 RCV002316250 RCV000366061 CA223008 rs200611702	454	L>M	Developmental and epileptic encephalopathy, 12 Inborn genetic diseases Microcephaly, seizures, and developmental delay [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000809805 RCV002537319 RCV001270054 RCV001759560 CA406933071 rs200611702	454	L>V	Developmental and epileptic encephalopathy, 12 Inborn genetic diseases Microcephaly, seizures, and developmental delay [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001300106 rs776349198 CA9586446	457	A>V	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001046494 rs1187812495 CA406933015	458	R>H	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA9586443 rs775762473 RCV001340071	461	N>H	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs796052863 RCV001038840 RCV000188476	461	N>missing	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinVar dbSNP
RCV000765462 rs775762473 RCV002318528 RCV000483581 CA9586444 RCV000467950	461	N>D	Developmental and epileptic encephalopathy, 12 Microcephaly, seizures, and developmental delay Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs376854895 RCV000306618 RCV000692070 RCV000188458 RCV000622668 VAR_076537 CA316505	462	R>P	Developmental and epileptic encephalopathy, 12 Inborn genetic diseases Microcephaly, seizures, and developmental delay MCSZ; atypical phenotype [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
RCV000466734 RCV000081505 RCV000147348 RCV001081069 CA223010 RCV002313782 rs376854895	462	R>Q	Developmental and epileptic encephalopathy, 12 Inborn genetic diseases Microcephaly, seizures, and developmental delay [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs778893834 CA9586440 RCV001298528 RCV001759437 RCV002316746	462	R>W	Developmental and epileptic encephalopathy, 12 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000765461 rs763116781 RCV000678825 CA9586392 RCV001839016	463	F>L	Pyridoxine-dependent epilepsy Microcephaly, seizures, and developmental delay [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs377619541 RCV002492866 CA316507 RCV001857633 RCV000188459	464	R>P	Developmental and epileptic encephalopathy, 12 Charcot-Marie-Tooth disease type 2B2 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV002318595 RCV000648426 RCV000489945 CA9586389 rs145886749	466	M>T	Developmental and epileptic encephalopathy, 12 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs769109631 RCV001052548 CA9586388	467	T>K	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP
rs1443873131 RCV000585235 RCV002530847	467	T>R*	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinVar dbSNP
RCV000524010 CA9586386 RCV000820281 rs778647353	468	D>N	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA406932833 rs1231560062 RCV001348694	470	S>F	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA316509 RCV000687022 RCV002390494 rs142032281 RCV000188460	471	H>L	Developmental and epileptic encephalopathy, 12 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA406932822 rs142032281 RCV001371841 RCV002317986	471	H>P	Developmental and epileptic encephalopathy, 12 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2074757362 RCV001224000	475	S>missing	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinVar dbSNP
rs1600414629 CA406932781 RCV000805090	475	S>L	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000765460 rs766655539 RCV000732653 CA9586375 RCV000685510 RCV002544715	477	M>T	Developmental and epileptic encephalopathy, 12 Microcephaly, seizures, and developmental delay Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000188461 RCV001857634 rs796052856 CA316511	477	M>V	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000314798 rs3739206 RCV002312588 CA295144 RCV000458308 VAR_019264 RCV000147349	478	V>G	Developmental and epileptic encephalopathy, 12 Inborn genetic diseases Microcephaly, seizures, and developmental delay [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001852483 rs796052857 CA316513 RCV000188462 RCV002517881	478	V>I	Developmental and epileptic encephalopathy, 12 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001212535 rs2074756863	480	Y>*	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinVar dbSNP
CA316436 RCV000702573 rs146941866 RCV001705032	481	G>S	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001046008 CA406932546 rs746916070	489	P>S	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs753976364 RCV001218217	494	G>C	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinVar dbSNP
RCV000498927 CA406932504 RCV002524104 rs1165689250	495	F>L	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs753116883 RCV000648417 RCV000992665 CA9586333	498	I>L	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs368390840 CA9586331 RCV001300235	498	I>M	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs774739756 RCV000461323 CA16616089	499	L>Q	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA9586328 rs776190168 RCV001303480	502	P>L	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000996971 rs771489173 RCV000648428	504	R>missing	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinVar dbSNP
rs148669160 RCV002390495 RCV000188463 RCV001051507 CA316515 RCV001129140	504	R>G	Developmental and epileptic encephalopathy, 12 Microcephaly, seizures, and developmental delay Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs148669160 RCV001584560 CA406932450 RCV000688469	504	R>W	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001326721 rs2074753341	506	W>R	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinVar dbSNP
CA251151 RCV000534993 rs146478958 RCV001083078 RCV000147354 RCV000127494 RCV002316393	508	E>K	Developmental and epileptic encephalopathy, 12 Inborn genetic diseases Microcephaly, seizures, and developmental delay [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001294461 rs2074752931	512	G>R	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinVar dbSNP
CA309539591 RCV002541760 RCV001281535 rs112217838	513	R>W	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001337578 rs745579629	516	C>W	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinVar dbSNP
RCV000167525 rs1555810613	517	Q>missing	Ataxia - oculomotor apraxia type 4 [ClinVar]	Yes	ClinVar dbSNP
RCV000986211 RCV002550595 rs1279136929	517	Q>missing	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinVar dbSNP
RCV001059483 RCV002275195 CA9586310 RCV002402427 RCV001093541 RCV001552324 rs774995635	517	Q>*	Developmental and epileptic encephalopathy, 12 Charcot-Marie-Tooth disease type 2B2 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001129138 CA10605141 RCV001203429 RCV000358236 RCV000765459 rs886043128	520	E>G	Developmental and epileptic encephalopathy, 12 Microcephaly, seizures, and developmental delay [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000808467 rs770823063 CA406932358	520	E>K	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs770823063 CA406932357 RCV001255107 RCV001879928	520	E>Q	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001061753 CA406932350 rs1289682803	521	G>S	Developmental and epileptic encephalopathy, 12 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1293114265 CA406893985	2	G>D		No	ClinGen TOPMed gnomAD
rs1293114265 CA406893981	2	G>V		No	ClinGen TOPMed gnomAD
rs563477380 CA9587108	6	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs776442624 CA9587106	7	P>L		No	ClinGen ExAC TOPMed gnomAD
RCV001008268 rs1600423552	8	G>missing		No	ClinVar dbSNP
rs768373887 CA316535	8	G>A		No	ClinGen ExAC TOPMed gnomAD
CA9587105 rs747245961	9	R>C		No	ClinGen ExAC gnomAD
rs775560579 CA9587104	9	R>L		No	ClinGen ExAC gnomAD
rs577282123 CA309502520	11	W>*		No	ClinGen 1000Genomes gnomAD
CA9587103 rs201218221	13	E>Q		No	ClinGen ExAC gnomAD
CA9587100 rs749769775	14	S>T		No	ClinGen ExAC TOPMed gnomAD
CA406893811 rs1284247634	15	P>S		No	ClinGen gnomAD
RCV000188466 rs796052858 CA316521	16	P>H		No	ClinGen ClinVar Ensembl dbSNP
rs1330651037 CA406893772	17	G>A		No	ClinGen gnomAD
rs1205197958 CA406893780	17	G>R		No	ClinGen TOPMed gnomAD
CA406893777 rs1205197958	17	G>W		No	ClinGen TOPMed gnomAD
rs201258910 CA406893753	19	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA309502408 rs999811650	19	A>P		No	ClinGen TOPMed
rs999811650 CA406893757	19	A>T		No	ClinGen TOPMed
rs1276413840 CA406893744	20	P>L		No	ClinGen gnomAD
rs201748578 CA9587090	21	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9587088 rs760457599	22	I>L		No	ClinGen ExAC
CA406893721 rs1240949288	22	I>M		No	ClinGen gnomAD
rs775819643 CA9587087	22	I>T		No	ClinGen ExAC gnomAD
rs1318940913 CA406893719	23	F>L		No	ClinGen gnomAD
CA9587086 rs772159079	25	P>S		No	ClinGen ExAC gnomAD
rs774322357 CA9587084	27	D>H		No	ClinGen ExAC gnomAD
rs771064093 CA316523 RCV000188467	28	G>E		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA406893624 rs1193272269	29	Q>*		No	ClinGen gnomAD
CA406893613 rs1300527015	30	A>T		No	ClinGen gnomAD
rs778423306 CA9587082	33	L>V		No	ClinGen ExAC gnomAD
TCGA novel	34	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA406893522 rs756589726	36	G>A		No	ClinGen ExAC TOPMed gnomAD
CA406893499 rs758018693	38	L>Q		No	ClinGen ExAC TOPMed gnomAD
CA9587078 rs758018693	38	L>R		No	ClinGen ExAC TOPMed gnomAD
rs778407583 CA9587075	43	D>Y		No	ClinGen ExAC gnomAD
rs1464870318 CA406893376	46	C>G		No	ClinGen TOPMed gnomAD
CA309502166 rs368359218	50	Q>L		No	ClinGen ESP TOPMed gnomAD
rs758700077 CA9587029	51	V>G		No	ClinGen ExAC TOPMed
rs753839317 CA9587072	51	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1313321108 CA406893180	55	A>T		No	ClinGen TOPMed
CA309501373 rs1041964950	55	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA9587027 rs145503310	58	E>*		No	ClinGen ESP ExAC gnomAD
rs1034335428 CA309501360	58	E>V		No	ClinGen Ensembl
CA406893092 rs1160870997	61	T>R		No	ClinGen gnomAD
COSM13895 CA406893066 rs1600422789	64	V>A	kidney [Cosmic]	No	ClinGen cosmic curated Ensembl
CA9587025 rs761036804	66	Q>E		No	ClinGen ExAC gnomAD
rs796052864 RCV000188477 CA316531	68	G>A		No	ClinGen ClinVar dbSNP gnomAD
CA406891438 rs796052864	68	G>E		No	ClinGen gnomAD
rs745635786 CA9586991	72	S>T		No	ClinGen ExAC gnomAD
rs1483615874 CA406891320	75	G>R		No	ClinGen gnomAD
CA406891265 rs1568662343 RCV000760825	77	Q>*		No	ClinGen ClinVar Ensembl dbSNP
RCV000188424 rs796052849 CA316444	79	L>V		No	ClinGen ClinVar Ensembl dbSNP
CA9586989 rs757528517	80	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1231251848 CA406891072	81	P>A		No	ClinGen TOPMed
rs753940585 CA406891066 RCV000520478	81	P>L		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs753940585 CA9586988	81	P>R		No	ClinGen ExAC TOPMed gnomAD
CA406891048 rs1284293244	82	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA9586985 rs753265392	85	G>D		No	ClinGen ExAC
rs751987662 CA9586982	88	G>R		No	ClinGen ExAC TOPMed gnomAD
RCV000224524 rs879255541	89	V>missing		No	ClinVar dbSNP
CA406890857 rs1398804952	89	V>A		No	ClinGen gnomAD
CA406890823 rs1486837619	90	G>R		No	ClinGen TOPMed
CA406890787 rs1161659138	91	D>G		No	ClinGen gnomAD
rs1163894021 CA406890791	91	D>Y		No	ClinGen gnomAD
CA9586977 rs768347980	96	V>I		No	ClinGen ExAC gnomAD
rs768347980 CA309498676	96	V>L		No	ClinGen ExAC gnomAD
rs775616417 CA9586976	100	H>Q		No	ClinGen ExAC gnomAD
CA406890496 rs1159790949	104	L>Q		No	ClinGen TOPMed
CA406890473 rs535302504	105	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1181436747 CA406890374	108	E>G		No	ClinGen TOPMed gnomAD
rs1412623964 CA406890389	108	E>K		No	ClinGen TOPMed
rs1228660292 CA406890318	109	T>N		No	ClinGen gnomAD
CA406890361 rs979192418	109	T>P		No	ClinGen Ensembl
CA309498649 rs979192418	109	T>S		No	ClinGen Ensembl
rs1228660292 CA406890325	109	T>S		No	ClinGen gnomAD
rs777849032 CA9586971	110	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9586970 rs756223253	111	T>I		No	ClinGen ExAC gnomAD
rs1239561285 CA406890257	111	T>S		No	ClinGen TOPMed
rs1427243642 CA406890244	112	P>A		No	ClinGen TOPMed
rs11671530 CA309498532	113	E>K		No	ClinGen Ensembl
CA406890156 rs1386585563	115	Q>*		No	ClinGen gnomAD
CA9586968 rs200055661	115	Q>R		No	ClinGen ExAC TOPMed
rs1158621575 CA406890084	117	D>H		No	ClinGen TOPMed gnomAD
TCGA novel	117	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1414544372 CA406890040	118	T>A		No	ClinGen TOPMed gnomAD
rs1414544372 CA406890026	118	T>S		No	ClinGen TOPMed gnomAD
rs376650849 CA309498505	119	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA406889975 COSM999491 rs1477930328 COSM999490	119	P>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs376650849 CA9586966	119	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA406889872 rs1600421585	123	P>A		No	ClinGen Ensembl
CA406889864 rs1246883829	123	P>H		No	ClinGen gnomAD
TCGA novel	123	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753568158 CA9586962	125	V>M		No	ClinGen ExAC gnomAD
TCGA novel	126	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs904458738 CA309498502	127	Q>L		No	ClinGen TOPMed
CA406889433 rs1428557603	133	A>D		No	ClinGen gnomAD
COSM999488 rs775168371 CA9586958 COSM999489	133	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs11555414 CA309498482	136	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs749002843 CA9586955	137	K>R		No	ClinGen ExAC gnomAD
rs772945400 CA9586954	139	R>C		No	ClinGen ExAC gnomAD
rs34472250 CA9586953	139	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	140	M>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1174754892 CA406889136	140	M>T		No	ClinGen gnomAD
rs755037999 CA9586952	141	R>G		No	ClinGen ExAC gnomAD
CA9586951 rs755037999	141	R>W		No	ClinGen ExAC gnomAD
CA9586950 rs780396249	142	K>N		No	ClinGen ExAC gnomAD
TCGA novel	144	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1280492005 CA406888944	146	G>V		No	ClinGen gnomAD
rs371008170 CA9586947	149	N>S		No	ClinGen ESP ExAC gnomAD
CA309498381 rs1051886542	153	L>F		No	ClinGen TOPMed
rs201553485 CA309498371	157	T>N		No	ClinGen 1000Genomes
CA406888353 rs767190474	158	A>S		No	ClinGen ExAC gnomAD
CA9586944 rs767190474	158	A>T		No	ClinGen ExAC gnomAD
rs372615308 CA9586943	158	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA9586942 rs774384631	160	G>E		No	ClinGen ExAC gnomAD
rs368921337 CA309498342	161	V>A		No	ClinGen ESP TOPMed gnomAD
CA406888251 rs368921337	161	V>G		No	ClinGen ESP TOPMed gnomAD
CA406888193 rs1373327122	163	P>S		No	ClinGen TOPMed
CA316454 rs375781731 RCV000188429	164	Q>*		No	ClinGen ClinVar ESP TOPMed dbSNP
CA406888125 rs1428294252	165	G>D		No	ClinGen gnomAD
rs1289362536 CA406887671	168	A>T		No	ClinGen gnomAD
rs760910540 CA9586918	170	F>L		No	ClinGen ExAC gnomAD
CA309497364 rs144284975	173	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9586915 rs746434170	174	G>E		No	ClinGen ExAC gnomAD
rs771458611 CA9586913	176	L>P		No	ClinGen ExAC gnomAD
CA309497348 rs267606957	176	L>V		No	ClinGen Ensembl
CA9586911 rs778146955	178	T>A		No	ClinGen ExAC TOPMed gnomAD
CA406887288 rs1254979930	179	T>A		No	ClinGen gnomAD
rs757925060 CA9586908	182	G>E		No	ClinGen ExAC TOPMed gnomAD
CA406887166 rs1181939652	184	V>F		No	ClinGen Ensembl
rs1301142821 CA406887122	186	P>S		No	ClinGen gnomAD
rs570975244 CA406887073	189	P>L		No	ClinGen ExAC TOPMed gnomAD
rs570975244 CA9586904	189	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1433797074 CA406887053	190	S>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA406887045 rs1229433231	190	S>N		No	ClinGen TOPMed gnomAD
CA406887034 rs1322192989	191	D>A		No	ClinGen gnomAD
rs1239762578 CA406887037	191	D>N		No	ClinGen TOPMed
CA309497292 rs780365093	192	W>S		No	ClinGen Ensembl
CA309497291 rs1056754589	193	R>T		No	ClinGen TOPMed gnomAD
CA9586880 rs773769080	195	L>S		No	ClinGen ExAC TOPMed gnomAD
rs138931842 CA406886834	196	Y>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA406886811 rs1398616567	197	P>L		No	ClinGen gnomAD
CA9586876 rs201968000	197	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs749250190 CA406886775	199	I>M		No	ClinGen ExAC gnomAD
TCGA novel	200	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA406886756 rs1456488135	201	R>C		No	ClinGen gnomAD
rs1456488135 CA406886761	201	R>G		No	ClinGen gnomAD
rs150253619 CA406886753	201	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9586871 rs767378244	202	K>N		No	ClinGen ExAC TOPMed gnomAD
CA316456 RCV000188430 rs796052850 RCV001175506	204	R>*		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1555811461 RCV000499881 CA406886693	205	E>K		No	ClinGen ClinVar Ensembl dbSNP
rs1465116349 CA406886673	205	E>V		No	ClinGen TOPMed
rs1600420580 CA406886661	206	L>R		No	ClinGen Ensembl
CA406886657 rs1355068396	207	E>K		No	ClinGen gnomAD
rs766637329 CA9586868	208	A>S		No	ClinGen ExAC gnomAD
TCGA novel	208	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs532550120 CA309497037	209	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9586867 rs762187891	212	K>E		No	ClinGen ExAC
CA406886597 rs762187891	212	K>Q		No	ClinGen ExAC
CA9586833 rs115259839	217	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA406886432 rs1297060629	217	T>P		No	ClinGen gnomAD
rs1347237648 CA406886406	218	N>I		No	ClinGen gnomAD
rs1414296867 CA406886341	221	S>N		No	ClinGen gnomAD
CA316460 rs796052851 RCV000188432	223	G>V		No	ClinGen ClinVar Ensembl dbSNP
CA9586831 rs144257114	225	G>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1485889325 CA406886250	227	L>V		No	ClinGen gnomAD
rs1202942963 CA406886233	229	A>T		No	ClinGen gnomAD
rs768745851 CA9586827	230	E>K		No	ClinGen ExAC gnomAD
CA406886177 rs1364316091	233	K>*		No	ClinGen gnomAD
rs746166841 CA9586823	238	A>D		No	ClinGen ExAC gnomAD
rs982113263 CA309496650	241	E>*		No	ClinGen TOPMed gnomAD
CA406884782 rs777786941	244	G>E		No	ClinGen ExAC TOPMed gnomAD
CA9586819 rs777786941	244	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1475375304 CA406884781	245	V>I		No	ClinGen gnomAD
CA9586818 rs753142417	246	P>H		No	ClinGen ExAC gnomAD
CA406884722 rs1355945909	247	F>I		No	ClinGen gnomAD
rs971887688 CA309496622	247	F>S		No	ClinGen TOPMed gnomAD
rs1485713938 CA406884461	249	V>A		No	ClinGen gnomAD
CA406884488 rs1207064306	249	V>M		No	ClinGen gnomAD
CA406884393 rs1162973789	251	V>A		No	ClinGen gnomAD
CA406884379 rs1555811378 RCV000591615	252	A>S		No	ClinGen ClinVar Ensembl dbSNP
rs1310929851 CA406884337	254	H>Y		No	ClinGen gnomAD
rs1372574769 CA406884286	256	G>C		No	ClinGen gnomAD
rs796052852 CA316472 RCV000188438	256	G>D		No	ClinGen ClinVar Ensembl dbSNP
CA406884264 rs1381312137	257	L>F		No	ClinGen TOPMed gnomAD
CA406884229 rs1362291166	258	Y>C		No	ClinGen gnomAD
CA406884224 rs1362291166	258	Y>S		No	ClinGen gnomAD
TCGA novel	260	K>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1600419895 CA406883955	264	G>A		No	ClinGen Ensembl
CA309496220 rs998437018	264	G>S		No	ClinGen TOPMed gnomAD
CA406883877 rs1280189146	266	W>*		No	ClinGen gnomAD
TCGA novel	268	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1473461768 CA406883738	269	L>Q		No	ClinGen TOPMed
rs965965834 CA309496216	270	Q>*		No	ClinGen TOPMed gnomAD
rs552512920 CA309496180	272	Q>*		No	ClinGen 1000Genomes
rs1326621062 CA406883562	272	Q>P		No	ClinGen gnomAD
rs1463305699 CA406882462	274	N>D		No	ClinGen gnomAD
rs772611913 CA9586763	275	D>N		No	ClinGen ExAC gnomAD
CA406882433 rs746254179	276	G>S		No	ClinGen ExAC TOPMed gnomAD
rs755828003 CA309494779	278	P>A		No	ClinGen ExAC TOPMed gnomAD
CA9586761 rs755828003	278	P>S		No	ClinGen ExAC TOPMed gnomAD
RCV001090749 rs2074787192	280	S>missing		No	ClinVar dbSNP
rs780624862 CA9586759	280	S>F		No	ClinGen ExAC gnomAD
RCV000081516 rs398124251 CA223023	282	G>E		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs751489111 CA9586757	282	G>R		No	ClinGen ExAC gnomAD
rs762838340 CA9586756	283	D>H		No	ClinGen ExAC
rs1215859117 CA406882302	288	G>E		No	ClinGen TOPMed
rs771239062 COSM72237 CA406882202	289	D>E	ovary [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1485940017 CA406882195	290	A>T		No	ClinGen gnomAD
rs1259588757 CA406882167	291	A>G		No	ClinGen gnomAD
TCGA novel	291	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9586726 rs773410900	292	G>R		No	ClinGen ExAC gnomAD
rs746607054 COSM1221338 CA9586725 COSM1221337	293	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs746607054 CA406882138	293	R>G		No	ClinGen ExAC gnomAD
rs779597191 CA309494612	293	R>H		No	ClinGen ExAC TOPMed gnomAD
rs779597191 CA9586724	293	R>L		No	ClinGen ExAC TOPMed gnomAD
CA309494609 rs1025128338	294	P>L		No	ClinGen TOPMed gnomAD
CA9586721 rs753695701	295	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1353421318 CA406882075	296	N>S		No	ClinGen TOPMed gnomAD
CA9586718 rs375755965	297	W>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1358883108 CA406882024	299	P>A		No	ClinGen TOPMed
CA406882003 rs759656573	300	G>E		No	ClinGen ExAC TOPMed gnomAD
rs759656573 CA9586715	300	G>V		No	ClinGen ExAC TOPMed gnomAD
CA9586713 rs763302860	301	R>L		No	ClinGen ExAC gnomAD
CA406881986 rs763302860	301	R>Q		No	ClinGen ExAC gnomAD
rs773640159 CA9586712	306	F>L		No	ClinGen ExAC gnomAD
CA9586711 rs770042800	307	S>P		No	ClinGen ExAC gnomAD
rs775097059 CA9586709	308	C>Y		No	ClinGen ExAC TOPMed
CA406881829 rs1213408016	309	A>D		No	ClinGen TOPMed gnomAD
rs1213408016 CA406881820	309	A>V		No	ClinGen TOPMed gnomAD
CA9586704 rs749118287	310	D>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs749118287 CA406881809	310	D>Y		No	ClinGen ExAC gnomAD
CA406881780 RCV000996975 rs755967508	311	R>C		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA9586702 rs755967508	311	R>G		No	ClinGen ExAC TOPMed gnomAD
CA9586701 rs372435922	311	R>P		No	ClinGen ESP ExAC TOPMed
rs1381404753 CA406881561	314	A>T		No	ClinGen gnomAD
CA309494261 rs974787744	314	A>V		No	ClinGen gnomAD
rs762271079 CA9586675	315	L>F		No	ClinGen ExAC gnomAD
rs1412845275 CA406881506	315	L>P		No	ClinGen TOPMed gnomAD
CA406881465 rs1173052486	316	N>K		No	ClinGen gnomAD
rs1435440365 CA406881458	317	L>F		No	ClinGen gnomAD
rs1435440365 CA406881462	317	L>I		No	ClinGen gnomAD
CA406881415 rs1379547535	318	G>V		No	ClinGen gnomAD
CA406881374 RCV000501583 rs1428228072	320	P>H		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1428228072 CA406881371	320	P>L		No	ClinGen TOPMed gnomAD
CA406881378 rs1168604229	320	P>S		No	ClinGen TOPMed gnomAD
CA406881324 rs1420650255	322	A>V		No	ClinGen gnomAD
CA9586673 rs139544687	323	T>S		No	ClinGen ESP ExAC gnomAD
rs267606956 CA406881225	326	E>*		No	ClinGen TOPMed
CA406881166 rs1449236547	326	E>D		No	ClinGen TOPMed
rs1246482288 CA406881210	326	E>V		No	ClinGen TOPMed
CA9586669 rs765953221	329	L>F		No	ClinGen ExAC gnomAD
CA406880931 rs1354687589	331	W>*		No	ClinGen gnomAD
RCV000499794 rs978778913 CA309494181	332	P>L		No	ClinGen ClinVar dbSNP gnomAD
rs978778913 CA406880903	332	P>Q		No	ClinGen gnomAD
rs1404458308 CA406880881	334	A>T		No	ClinGen gnomAD
CA406880824 rs1173238638	335	G>D		No	ClinGen gnomAD
rs768567927 CA309494179	335	G>R		No	ClinGen ExAC TOPMed gnomAD
CA406880778 rs780121125	337	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1025604697 CA309494136	339	P>L		No	ClinGen TOPMed
CA406880632 rs758602427	340	A>G		No	ClinGen ExAC gnomAD
rs1194802183 CA406880641	340	A>P		No	ClinGen gnomAD
rs1194802183 CA406880639	340	A>T		No	ClinGen gnomAD
CA9586661 rs758602427	340	A>V		No	ClinGen ExAC gnomAD
CA309494116 rs868676616	343	P>L		No	ClinGen gnomAD
rs1211545948 CA406880507	343	P>S		No	ClinGen gnomAD
rs1325060968 CA406880257	345	T>A		No	ClinGen gnomAD
rs1334672308 CA406880246	345	T>I		No	ClinGen TOPMed gnomAD
CA406880244 rs1294417599	346	V>I		No	ClinGen gnomAD
rs756594496 CA9586638	347	S>C		No	ClinGen ExAC gnomAD
CA9586636 rs781551273	348	R>H		No	ClinGen ExAC gnomAD
rs781551273 RCV000996973 CA406880181	348	R>P		No	ClinGen ClinVar ExAC dbSNP gnomAD
COSM1304932 CA9586635 COSM1304931 rs758045226	349	S>L	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA406880162 rs1173977773	349	S>P		No	ClinGen gnomAD
RCV000193860 CA207622 rs797045891	351	P>R		No	ClinGen ClinVar dbSNP gnomAD
CA9586633 rs764879888	351	P>S		No	ClinGen ExAC TOPMed gnomAD
rs761386770 CA9586632	352	L>F		No	ClinGen ExAC gnomAD
rs1337771339 CA406880029	353	C>*		No	ClinGen gnomAD
CA406880033 rs753353170	353	C>F		No	ClinGen ExAC gnomAD
rs753353170 CA9586630	353	C>Y		No	ClinGen ExAC gnomAD
CA9586629 rs763974539	354	L>F		No	ClinGen ExAC gnomAD
rs1292010324 CA406879968	355	P>H		No	ClinGen gnomAD
rs1292010324 CA406879971	355	P>L		No	ClinGen gnomAD
rs1342878002 CA406879977	355	P>S		No	ClinGen gnomAD
rs1342878002 CA406879979	355	P>T		No	ClinGen gnomAD
CA406879943 rs1170743406	356	E>*		No	ClinGen TOPMed
CA406879924 rs1459667378	357	S>P		No	ClinGen TOPMed gnomAD
rs1359253510 CA406879918	357	S>Y		No	ClinGen gnomAD
TCGA novel	359	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774520931 CA9586623	360	L>F		No	ClinGen ExAC gnomAD
CA9586622 rs771046546	362	S>G		No	ClinGen ExAC gnomAD
CA406879788 rs749391446	362	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1187151464 CA406879780	363	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA9586620 rs551247153	365	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781476566 CA9586616	366	E>G		No	ClinGen ExAC gnomAD
rs200116829 CA9586614	367	V>A		No	ClinGen 1000Genomes ExAC gnomAD
rs200116829 CA406879641	367	V>G		No	ClinGen 1000Genomes ExAC gnomAD
CA309493804 rs978115762	367	V>M		No	ClinGen TOPMed
CA9586612 rs756933064	368	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1285422118 CA406879574	370	A>V		No	ClinGen gnomAD
rs1331657448 CA406879438	373	F>L		No	ClinGen gnomAD
CA9586610 rs763604866	373	F>V		No	ClinGen ExAC gnomAD
CA406879422 COSM713363 COSM713362 rs1391995905	374	P>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs760583725 CA406879427	374	P>T		No	ClinGen ExAC TOPMed gnomAD
CA309493532 rs1042831313	376	A>D		No	ClinGen Ensembl
CA9586576 rs755670029	380	T>A		No	ClinGen ExAC gnomAD
rs747723740 CA9586575	380	T>I		No	ClinGen ExAC
CA9586573 rs754921430	382	L>F		No	ClinGen ExAC gnomAD
CA406879031 rs754921430	382	L>V		No	ClinGen ExAC gnomAD
rs766203926 CA9586571	384	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA406878928 rs1443917267	385	H>L		No	ClinGen TOPMed
CA309493463 rs967589662	387	V>A		No	ClinGen TOPMed
CA406878890 rs1480890100	387	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs146311500 CA9586567	388	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs146311500 CA9586568	388	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA9586564 rs761335711	390	G>*		No	ClinGen ExAC TOPMed gnomAD
CA9586563 rs776105055	390	G>V		No	ClinGen ExAC gnomAD
CA406878759 rs1228430540	392	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA9586562 rs746264747	393	H>Q		No	ClinGen ExAC gnomAD
rs769490709 CA9586560	396	R>K		No	ClinGen ExAC gnomAD
rs1381801779 CA406933671	397	D>Y		No	ClinGen gnomAD
rs760147150 CA9586519	398	T>A		No	ClinGen ExAC gnomAD
CA309540097 rs1010036717	398	T>M		No	ClinGen TOPMed gnomAD
rs766816785 CA9586517 RCV001269519	399	L>P		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA9586516 rs763250528	400	G>D		No	ClinGen ExAC TOPMed gnomAD
COSM1221340 COSM1221339 CA309540091 rs763027558	402	W>*	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1354625488 CA406933622	403	Q>L		No	ClinGen gnomAD
rs549069697 CA309540086	404	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1389034284 RCV000519467	406	V>missing		No	ClinVar dbSNP
CA406933588 rs1381701862	408	T>A		No	ClinGen gnomAD
CA9586510 rs774130130	408	T>M		No	ClinGen ExAC gnomAD
CA406933589 rs1381701862	408	T>P		No	ClinGen gnomAD
CA633894549 rs1477525034	409	C>*		No	ClinGen gnomAD
CA406933584 rs1338672803	409	C>G		No	ClinGen TOPMed
rs1338672803 RCV000986212 CA406933583	409	C>R		No	ClinGen ClinVar TOPMed dbSNP
RCV000485935 rs1064794452	410	E>missing		No	ClinVar dbSNP
rs563802371 CA9586508	412	A>T		No	ClinGen 1000Genomes ExAC gnomAD
RCV000481295 CA16620875 rs1555810891	413	L>R		No	ClinGen ClinVar Ensembl dbSNP
CA406933513 rs1288356734	416	G>R		No	ClinGen gnomAD
CA309540069 rs777641575	418	R>G		No	ClinGen ExAC TOPMed gnomAD
CA406933490 rs1275782816	418	R>P		No	ClinGen gnomAD
CA406933492 rs1275782816	418	R>Q		No	ClinGen gnomAD
CA9586507 rs777641575	418	R>W		No	ClinGen ExAC TOPMed gnomAD
rs751609401 CA9586506	420	A>G		No	ClinGen ExAC
rs758836805 CA406933464	421	I>M		No	ClinGen ExAC gnomAD
CA406933467 rs1331705766	421	I>T		No	ClinGen gnomAD
rs377485860 CA9586504	421	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA406933453 rs1055603577	422	D>E		No	ClinGen TOPMed gnomAD
CA406933461 rs1402529044	422	D>H		No	ClinGen TOPMed gnomAD
CA406933459 rs1402529044	422	D>N		No	ClinGen TOPMed gnomAD
CA9586502 rs750802489	423	N>D		No	ClinGen ExAC gnomAD
CA406933446 rs1422752776	423	N>S		No	ClinGen gnomAD
rs765575612 CA9586501	424	T>R		No	ClinGen ExAC gnomAD
rs1348758451 CA406933429	425	N>D		No	ClinGen gnomAD
rs767107348 CA9586499	425	N>K		No	ClinGen ExAC gnomAD
rs541840060 CA9586500	425	N>T		No	ClinGen ExAC TOPMed gnomAD
rs758986802 CA9586498	426	P>Q		No	ClinGen ExAC gnomAD
CA406933419 rs1279639095	426	P>S		No	ClinGen TOPMed gnomAD
CA406933420 rs1279639095	426	P>T		No	ClinGen TOPMed gnomAD
CA406933408 rs1257879989	427	D>A		No	ClinGen gnomAD
CA406933402 rs770775129	427	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1568659088 COSM999478 CA406933398 COSM999479	428	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs769707108 CA406933386	429	A>E		No	ClinGen ExAC TOPMed gnomAD
CA309540025 rs148386689	429	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA9586487 rs748420867	430	S>N		No	ClinGen ExAC gnomAD
CA633894525 rs1568659022	431	R>*		No	ClinGen Ensembl
CA406933367 rs1413615600	431	R>C		No	ClinGen TOPMed gnomAD
rs1568659001 CA406933359	432	A>T		No	ClinGen Ensembl
CA406933352 rs1568658987	432	A>V		No	ClinGen Ensembl
rs1221459042 CA406933306	434	Y>N		No	ClinGen gnomAD
CA406933288 rs1293289802	435	V>D		No	ClinGen gnomAD
CA406933290 rs1568658756	435	V>F		No	ClinGen Ensembl
rs1043142567 CA309539927	436	Q>*		No	ClinGen TOPMed
rs1241973785 CA406933254	438	A>V		No	ClinGen gnomAD
rs539286945 CA406933248	439	R>G		No	ClinGen 1000Genomes TOPMed gnomAD
TCGA novel	439	R>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1038631441 CA309539921	439	R>Q		No	ClinGen TOPMed gnomAD
rs1568658725 CA406933236	440	A>T		No	ClinGen Ensembl
CA309539917 rs377688490	440	A>V		No	ClinGen TOPMed gnomAD
rs1351594110 CA406933227	441	A>S		No	ClinGen TOPMed gnomAD
RCV000519275 CA406933214 rs1360064159	442	G>A		No	ClinGen ClinVar dbSNP gnomAD
CA406933204 rs1421167718	443	V>F		No	ClinGen gnomAD
rs1421167718 CA406933206	443	V>I		No	ClinGen gnomAD
rs908736344 CA309539890	444	P>L		No	ClinGen TOPMed
CA406933190 rs908736344	444	P>R		No	ClinGen TOPMed
rs1191025361 CA406933197	444	P>T		No	ClinGen TOPMed gnomAD
rs1478633124 CA406933181	445	C>Y		No	ClinGen gnomAD
CA406933172 rs1271713057	446	R>C		No	ClinGen TOPMed gnomAD
CA9586451 rs751218566	446	R>H		No	ClinGen ExAC gnomAD
CA406933171 rs1271713057	446	R>S		No	ClinGen TOPMed gnomAD
CA406933154 rs1217487189	447	C>*		No	ClinGen TOPMed gnomAD
rs766026186 CA309539885	447	C>G		No	ClinGen ExAC TOPMed gnomAD
rs766026186 CA9586450	447	C>R		No	ClinGen ExAC TOPMed gnomAD
rs1279025004 CA406933159	447	C>Y		No	ClinGen TOPMed
rs534804322 CA406933136	449	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs534804322 CA9586448	449	L>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA406933137 rs534804322	449	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs765271876 CA9586447	451	T>I		No	ClinGen ExAC gnomAD
CA406933097 rs1339921230	452	A>T		No	ClinGen TOPMed gnomAD
TCGA novel	452	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1176839387 CA406933068	454	L>Q		No	ClinGen TOPMed
rs929075083 CA309539873	455	E>D		No	ClinGen gnomAD
CA406933039 rs1432002476	456	Q>L		No	ClinGen gnomAD
rs768495666 CA9586445	458	R>C		No	ClinGen ExAC TOPMed gnomAD
CA406932998 rs1255082193	459	H>Q		No	ClinGen TOPMed gnomAD
rs1210479465 CA406932987	460	N>S		No	ClinGen gnomAD
rs772237909 CA9586442	461	N>S		No	ClinGen ExAC gnomAD
rs138249970 CA9586391	464	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs377619541 CA9586390	464	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs377619541 CA309539758	464	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA406932902 rs1490864164	465	E>K		No	ClinGen TOPMed gnomAD
CA309539752 rs960491729 CA406932880	466	M>I		No	ClinGen gnomAD
rs1443873131 CA633894416	467	T>R		No	ClinGen TOPMed gnomAD
rs1231560062 CA406932835	470	S>C		No	ClinGen gnomAD
rs756138433 CA9586381	472	I>T		No	ClinGen ExAC gnomAD
rs202043603 CA9586382	472	I>V		No	ClinGen 1000Genomes ExAC
CA406932800 RCV000503474 rs200014111	473	P>L		No	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
rs200014111 CA9586379	473	P>R		No	ClinGen 1000Genomes ExAC gnomAD
CA406932803 rs1281429993	473	P>S		No	ClinGen TOPMed
CA9586376 rs751307956	474	V>A		No	ClinGen ExAC gnomAD
CA9586377 rs575935955	474	V>M		No	ClinGen 1000Genomes ExAC gnomAD
CA309539728 rs929732858	476	D>N		No	ClinGen TOPMed gnomAD
CA9586374 rs763018324	477	M>I		No	ClinGen ExAC gnomAD
rs1264163330 CA406932742	479	M>L		No	ClinGen gnomAD
CA309539718 rs887351816	479	M>T		No	ClinGen TOPMed
rs762447921 CA9586372	480	Y>H		No	ClinGen ExAC gnomAD
CA406932715 rs1264212147	481	G>D		No	ClinGen TOPMed gnomAD
rs1264212147 CA406932713	481	G>V		No	ClinGen TOPMed gnomAD
rs761149656 CA9586370	483	R>K		No	ClinGen ExAC gnomAD
TCGA novel	483	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9586345 CA16620872 rs747689609 RCV000478755	483	R>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA406932598 rs1600414266	484	K>E		No	ClinGen Ensembl
rs780614119 CA9586343 CA406932565	486	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1440095819 CA406932562	487	E>Q		No	ClinGen TOPMed gnomAD
rs1287106710 CA406932553	488	A>T		No	ClinGen gnomAD
rs140090526 CA9586342	488	A>V		No	ClinGen ESP ExAC gnomAD
rs746916070 CA9586341	489	P>A		No	ClinGen ExAC gnomAD
rs779937835 CA9586340	489	P>L		No	ClinGen ExAC gnomAD
rs727504100 RCV000153748 CA234700	490	T>A		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs757483966 CA9586336	492	A>D		No	ClinGen ExAC gnomAD
CA406932515 rs1321622597	493	E>A		No	ClinGen gnomAD
CA406932516 rs1488577824	493	E>K		No	ClinGen TOPMed
CA406932508 rs1085307661	494	G>D		No	ClinGen Ensembl
CA9586335 rs753976364	494	G>S		No	ClinGen ExAC gnomAD
CA406932506 rs1085307661 RCV000489862	494	G>V		No	ClinGen ClinVar Ensembl dbSNP
CA406932501 rs1391993660	495	F>S		No	ClinGen TOPMed
CA406932503 rs1165689250	495	F>V		No	ClinGen TOPMed gnomAD
rs1162575677 CA406932486	497	A>V		No	ClinGen Ensembl
rs774739756 CA9586330	499	L>P		No	ClinGen ExAC TOPMed gnomAD
CA406932472 rs1381051164	500	E>D		No	ClinGen TOPMed
CA9586329 rs761397204	500	E>K		No	ClinGen ExAC TOPMed gnomAD
rs761397204 CA406932476	500	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA406932464 rs1293393287	501	I>M		No	ClinGen TOPMed gnomAD
rs745651405 CA9586324	504	R>Q		No	ClinGen ExAC
rs757607109 CA406932445	505	L>P		No	ClinGen ExAC TOPMed gnomAD
rs757607109 CA9586321	505	L>Q		No	ClinGen ExAC TOPMed gnomAD
CA406932446 rs201661864	505	L>V		No	ClinGen ExAC TOPMed gnomAD
rs778043139 CA9586319	506	W>*		No	ClinGen ExAC TOPMed gnomAD
CA883144742 rs1160306648	506	W>*		No	ClinGen TOPMed
CA406932434 rs1305073855 CA406932435	507	V>L		No	ClinGen TOPMed gnomAD
CA316533 RCV000188480 rs752776104	508	E>D		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA406932418 rs1485469964	509	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA406932419 rs1485469964	509	P>R		No	ClinGen TOPMed gnomAD
rs755448127 CA406932411	510	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1379256188 CA406932417	510	R>W		No	ClinGen TOPMed
rs1600414000 CA406932407	511	L>P		No	ClinGen Ensembl
rs751884217 CA9586316	512	G>A		No	ClinGen ExAC gnomAD
rs761491872 CA9586314	513	R>Q		No	ClinGen ExAC gnomAD
CA316517 TCGA novel RCV000188464 rs760131892	515	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD NCI-TCGA
rs979727253 CA309539569	518	F>L		No	ClinGen TOPMed
RCV000594695 CA9586308 rs745801055	519	S>C		No	ClinGen ClinVar ExAC dbSNP gnomAD
COSM1751081 COSM1751082 CA9586307 rs770823063	520	E>*	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA406932353 rs1361453237	520	E>D		No	ClinGen gnomAD
rs1433227414 CA406932349	521	G>D		No	ClinGen gnomAD

No associated diseases with Q96T60

2 regional properties for Q96T60

Type	Name	Position	InterPro Accession
domain	Activity-regulated cytoskeleton-associated protein, C-terminal domain	278 - 356	IPR040814
domain	Activity-regulated cytoskeleton-associated protein, N-terminal domain	46 - 154	IPR045557

Functions

		Description
EC Number	2.7.1.78	Phosphotransferases with an alcohol group as acceptor
Subcellular Localization	Nucleus Chromosome	Localizes to site of double-strand breaks
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
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.
site of double-strand break	A region of a chromosome at which a DNA double-strand break has occurred. DNA damage signaling and repair proteins accumulate at the lesion to respond to the damage and repair the DNA to form a continuous DNA helix.

7 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
damaged DNA binding	Binding to damaged DNA.
double-stranded DNA binding	Binding to double-stranded DNA.
endonuclease activity	Catalysis of the hydrolysis of ester linkages within nucleic acids by creating internal breaks.
polydeoxyribonucleotide 5'-hydroxyl-kinase activity	Catalysis of the reaction: ATP + 5'-dephospho-DNA = ADP + 5'-phospho-DNA.
polynucleotide 3'-phosphatase activity	Catalysis of the reaction: 3'-phosphopolynucleotide + H2O = a polynucleotide + phosphate. Hydrolyzes the free 3'-phosphate resulting from single strand breaks in DNA due to oxidative damage.
purine nucleotide binding	Binding to a purine nucleotide, a compound consisting of a purine nucleoside esterified with (ortho)phosphate.

14 GO annotations of biological process

Name	Definition
base-excision repair, gap-filling	Repair of the damaged strand by the combined action of an apurinic endouclease that degrades a few bases on the damaged strand and a polymerase that synthesizes a 'patch' in the 5' to 3' direction, using the undamaged strand as a template.
DNA ligation involved in DNA repair	The re-formation of a broken phosphodiester bond in the DNA backbone, carried out by DNA ligase, that contributes to DNA repair.
DNA repair	The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway.
DNA-templated DNA replication	A DNA replication process that uses parental DNA as a template for the DNA-dependent DNA polymerases that synthesize the new strands.
double-strand break repair via nonhomologous end joining	The repair of a double-strand break in DNA in which the two broken ends are rejoined with little or no sequence complementarity. Information at the DNA ends may be lost due to the modification of broken DNA ends. This term covers instances of separate pathways, called classical (or canonical) and alternative nonhomologous end joining (C-NHEJ and A-NHEJ). These in turn may further branch into sub-pathways, but evidence is still unclear.
negative regulation of protein ADP-ribosylation	Any process that decreases the frequency, rate or extent of protein ADP-ribosylation. Protein ADP-ribosylation is the transfer, from NAD, of ADP-ribose to protein amino acids.
nucleotide phosphorylation	The process of introducing one or more phosphate groups into a nucleotide to produce a phosphorylated nucleoside.
nucleotide-excision repair, DNA damage removal	The removal of the oligonucleotide that contains the DNA damage. The oligonucleotide is formed by dual incisions that flank the site of DNA damage.
positive regulation of double-strand break repair via nonhomologous end joining	Any process that activates or increases the frequency, rate or extent of double-strand break repair via nonhomologous end joining.
positive regulation of telomerase activity	Any process that activates or increases the frequency, rate or extent of telomerase activity, the catalysis of the reaction: deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1).
positive regulation of telomere capping	Any process that activates or increases the frequency, rate or extent of telomere capping.
positive regulation of telomere maintenance via telomerase	Any process that activates or increases the frequency, rate or extent of the addition of telomeric repeats by telomerase.
response to oxidative stress	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals.
response to radiation	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an electromagnetic radiation stimulus. Electromagnetic radiation is a propagating wave in space with electric and magnetic components. These components oscillate at right angles to each other and to the direction of propagation.

6 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q7YRZ2	APTX	Aprataxin	Bos taurus (Bovine)	PR
Q7Z2E3	APTX	Aprataxin	Homo sapiens (Human)	PR
Q7TQC5	Aptx	Aprataxin	Mus musculus (Mouse)	PR
Q9JLV6	Pnkp	Bifunctional polynucleotide phosphatase/kinase	Mus musculus (Mouse)	PR
Q7YRZ1	APTX	Aprataxin	Sus scrofa (Pig)	PR
Q19683	F21D5.5	Uncharacterized protein F21D5.5	Caenorhabditis elegans	PR

10	20	30	40	50	60
MGEVEAPGRL	WLESPPGGAP	PIFLPSDGQA	LVLGRGPLTQ	VTDRKCSRTQ	VELVADPETR
70	80	90	100	110	120
TVAVKQLGVN	PSTTGTQELK	PGLEGSLGVG	DTLYLVNGLH	PLTLRWEETR	TPESQPDTPP
130	140	150	160	170	180
GTPLVSQDEK	RDAELPKKRM	RKSNPGWENL	EKLLVFTAAG	VKPQGKVAGF	DLDGTLITTR
190	200	210	220	230	240
SGKVFPTGPS	DWRILYPEIP	RKLRELEAEG	YKLVIFTNQM	SIGRGKLPAE	EFKAKVEAVV
250	260	270	280	290	300
EKLGVPFQVL	VATHAGLYRK	PVTGMWDHLQ	EQANDGTPIS	IGDSIFVGDA	AGRPANWAPG
310	320	330	340	350	360
RKKKDFSCAD	RLFALNLGLP	FATPEEFFLK	WPAAGFELPA	FDPRTVSRSG	PLCLPESRAL
370	380	390	400	410	420
LSASPEVVVA	VGFPGAGKST	FLKKHLVSAG	YVHVNRDTLG	SWQRCVTTCE	TALKQGKRVA
430	440	450	460	470	480
IDNTNPDAAS	RARYVQCARA	AGVPCRCFLF	TATLEQARHN	NRFREMTDSS	HIPVSDMVMY
490	500	510	520
GYRKQFEAPT	LAEGFSAILE	IPFRLWVEPR	LGRLYCQFSE	G