AiPD: Autoinhibited Protein Database

Q8WVT3

Gene name	TRAPPC12
Protein name	Trafficking protein particle complex subunit 12
Names	Tetratricopeptide repeat protein 15, TPR repeat protein 15, TTC-15, Trafficking of membranes and mitosis
Species	Homo sapiens (Human)
KEGG Pathway	hsa:51112
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

70-145 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

70-145 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for Q8WVT3

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8WVT3-F1	Predicted				AlphaFoldDB

787 variants for Q8WVT3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1553309983 RCV000505545	49	E>missing	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1135401749 RCV000496091 RCV000505613	121	E>missing	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome Progressive childhood encephalopathy [ClinVar]	Yes	ClinVar dbSNP
rs758495770 RCV002224063 CA1515093 RCV001330897	166	R>S	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1318353446 RCV001335787 CA345740371	214	A>V	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs200774577 RCV001330895 CA1515510	533	R>G	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA1515603 RCV000881722 RCV002539304 rs114907951	570	S>L	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001266657 rs768950892 VAR_080390 RCV000496094 CA1515709 RCV000505655	627	A>V	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome Progressive childhood encephalopathy Inborn genetic diseases PEBAS; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs1173815158 CA345738528	4	A>S		No	ClinGen gnomAD
CA345738539 rs1453823762	6	G>S		No	ClinGen gnomAD
CA345738545 rs1358223919	7	G>S		No	ClinGen TOPMed gnomAD
CA345738555 rs1368686538	8	E>D		No	ClinGen gnomAD
CA345738554 rs901656637	8	E>G		No	ClinGen TOPMed
CA1514989 rs772409038	8	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA41516407 rs901656637	8	E>V		No	ClinGen TOPMed
CA41516409 rs1023943999	9	E>Q		No	ClinGen TOPMed gnomAD
rs1029297711 CA41516416	10	T>I		No	ClinGen TOPMed gnomAD
rs775656481 CA1514990	11	P>L		No	ClinGen ExAC
CA1514993 rs776963471	12	A>G		No	ClinGen ExAC gnomAD
rs370726295 CA1514992	12	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA345738577 rs776963471	12	A>V		No	ClinGen ExAC gnomAD
CA345738579 rs1269904446	13	P>A		No	ClinGen gnomAD
CA41516445 rs970595253	13	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA345738582 rs970595253	13	P>R		No	ClinGen gnomAD
rs760340783 CA1514994	14	E>V		No	ClinGen ExAC TOPMed gnomAD
CA41516464 rs1032296859	16	P>A		No	ClinGen TOPMed
CA1514995 rs572558823	16	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs572558823 CA345738599	16	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA345738597 rs1032296859	16	P>S		No	ClinGen TOPMed
rs751530148 CA1514996	17	H>N		No	ClinGen ExAC gnomAD
rs1163793114 CA345738606	17	H>Q		No	ClinGen gnomAD
CA1514998 rs754906792	18	P>T		No	ClinGen ExAC TOPMed gnomAD
CA1515000 rs752393610	19	P>A		No	ClinGen ExAC TOPMed gnomAD
rs755957990 CA1515002	19	P>H		No	ClinGen ExAC TOPMed gnomAD
rs755957990 CA41516534	19	P>L		No	ClinGen ExAC TOPMed gnomAD
CA1515001 rs755957990	19	P>R		No	ClinGen ExAC TOPMed gnomAD
CA41516531 rs752393610	19	P>S		No	ClinGen ExAC TOPMed gnomAD
rs752393610 CA345738612	19	P>T		No	ClinGen ExAC TOPMed gnomAD
CA1515004 rs368311025	20	Q>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs778448235 CA1515005	20	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA1515003 rs368311025	20	Q>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	20	Q>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs931276013 CA41516596	21	L>V		No	ClinGen TOPMed gnomAD
CA1515007 rs200941005	22	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145121353 CA1515008	23	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1048795592 CA41516618	24	P>L		No	ClinGen TOPMed
CA1515009 rs141031127	25	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs150279465 CA1515010	25	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA41516634 rs753349423	26	E>A		No	ClinGen Ensembl
rs1364220005 CA345738653	27	Q>K		No	ClinGen gnomAD
rs762186166 CA1515012	28	G>E		No	ClinGen ExAC TOPMed gnomAD
rs762186166 CA345738663	28	G>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	29	L>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765570879 CA1515013	29	L>F		No	ClinGen ExAC gnomAD
CA345738665 rs1404930290	29	L>M		No	ClinGen gnomAD
CA345738674 rs1415501463	30	L>P		No	ClinGen gnomAD
rs1403171679 CA345738689	32	Q>L		No	ClinGen gnomAD
rs1403171679 CA345738688	32	Q>R		No	ClinGen gnomAD
CA345738692 rs1163647952	33	E>K		No	ClinGen gnomAD
CA1515014 rs773361001	35	T>I		No	ClinGen ExAC gnomAD
rs1333921927 CA345738718	36	I>N		No	ClinGen gnomAD
rs767513378 CA1515016	37	D>N		No	ClinGen ExAC gnomAD
rs997735673 CA41516700	38	L>I		No	ClinGen TOPMed gnomAD
CA1515018 rs755833337	40	G>E		No	ClinGen ExAC gnomAD
rs764014297 CA1515019	42	E>K		No	ClinGen ExAC gnomAD
CA41516733 rs200835642	42	E>V		No	ClinGen Ensembl
rs935110666 CA41516742	43	F>Y		No	ClinGen Ensembl
CA345738767 rs1224424648	44	G>E		No	ClinGen TOPMed
rs1318285056 CA345738773	45	S>Y		No	ClinGen gnomAD
rs756841910 CA345738789 CA1515021	47	E>D		No	ClinGen ExAC gnomAD
CA1515020 rs753417333	47	E>K		No	ClinGen ExAC gnomAD
rs1238641533 CA345738796	48	N>K		No	ClinGen TOPMed gnomAD
rs117747228 CA1515023	49	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1515024 rs745336646	51	A>T		No	ClinGen ExAC TOPMed
CA345738822 rs1419834055	53	E>K		No	ClinGen gnomAD
rs1419834055 CA345738823	53	E>Q		No	ClinGen gnomAD
rs1478342536 CA345738830	54	G>C		No	ClinGen gnomAD
rs1478342536 CA345738832	54	G>R		No	ClinGen gnomAD
CA1515027 rs138331412	55	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP NCI-TCGA TOPMed gnomAD
rs1173352460 CA345738837	55	S>P		No	ClinGen gnomAD
rs138331412 CA1515026	55	S>W		No	ClinGen 1000Genomes ESP TOPMed gnomAD
rs780396369 CA1515029	57	P>L		No	ClinGen ExAC gnomAD
CA1515030 rs747620049	58	L>P		No	ClinGen ExAC gnomAD
rs747620049 CA41516811	58	L>R		No	ClinGen ExAC gnomAD
rs372611768 CA345738860	59	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs191638734 CA345738857	59	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs191638734 CA1515032	59	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1515033 COSM178691 rs372611768	59	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	60	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754580692 CA41516853	61	K>E		No	ClinGen gnomAD
rs1003456103 CA41516862	61	K>R		No	ClinGen TOPMed
CA345738887 rs773590210	63	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1275994888 CA345738885	63	N>S		No	ClinGen TOPMed gnomAD
rs1286105313 CA345738888	64	E>K		No	ClinGen TOPMed gnomAD
CA1515036 rs763101224	65	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA41516873 rs1015201633	65	H>Y		No	ClinGen Ensembl
rs775282532 CA1515038	66	M>I		No	ClinGen ExAC gnomAD
rs961857184 CA41516897	66	M>L		No	ClinGen Ensembl
CA1515040 rs763947952	67	M>I		No	ClinGen ExAC TOPMed gnomAD
rs760720711 CA1515039	67	M>T		No	ClinGen ExAC gnomAD
CA345738910 rs1208882021	67	M>V		No	ClinGen gnomAD
CA1515041 rs753558698	68	E>D		No	ClinGen ExAC TOPMed gnomAD
CA1515042 rs761622478	69	S>N		No	ClinGen ExAC gnomAD
rs1477712835 CA345738930	70	V>I		No	ClinGen TOPMed gnomAD
CA41516941 rs1025455753	72	I>L		No	ClinGen TOPMed
rs952696752 CA41516958	72	I>N		No	ClinGen TOPMed gnomAD
CA345738951 rs1412820624	73	S>F		No	ClinGen TOPMed gnomAD
CA345738960 rs1361249951	74	D>E		No	ClinGen TOPMed gnomAD
CA1515045 rs750118896	75	S>A		No	ClinGen ExAC TOPMed gnomAD
rs1296604156 CA345738965	75	S>F		No	ClinGen gnomAD
CA345738963 rs1296604156	75	S>Y		No	ClinGen gnomAD
CA1515047 rs199914749	76	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1515046 rs199914749	76	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	77	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345738979 rs1572078494	78	S>G		No	ClinGen Ensembl
rs375726071 CA1515049	79	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs375726071 CA345738986	79	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs748473854 CA1515051	81	D>N		No	ClinGen ExAC TOPMed gnomAD
CA345739000 rs748473854	81	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA1515053 rs202064560	82	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1515052 rs202064560	82	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1515055 rs749587177	82	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
rs774427602 CA1515057	83	G>S		No	ClinGen ExAC TOPMed gnomAD
rs529746013 CA345739015 COSM324042	84	D>H	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA345739014 rs529746013	84	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs529746013 CA1515058	84	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA41517124 rs935477643	86	G>R		No	ClinGen TOPMed
rs935477643 CA41517123	86	G>S		No	ClinGen TOPMed
TCGA novel	87	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs547842477 CA1515060	87	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs761567333 CA1515061	89	R>P		No	ClinGen ExAC TOPMed gnomAD
rs761567333 COSM379913 CA41517131	89	R>Q	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
COSM1407901 CA345739041 rs1380942136	89	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA1515063 rs750065934	90	D>A		No	ClinGen ExAC gnomAD
rs1387127820 CA345739048 CA345739049	90	D>E		No	ClinGen gnomAD
CA1515064 rs762609674	92	A>P		No	ClinGen ExAC gnomAD
rs947828405 CA41517144	94	P>A		No	ClinGen TOPMed gnomAD
rs947828405 CA345739072	94	P>S		No	ClinGen TOPMed gnomAD
CA1515065 rs765954685	95	G>R		No	ClinGen ExAC gnomAD
CA1515066 rs751042635	96	G>R		No	ClinGen ExAC gnomAD
CA1515067 rs201277240	97	E>A		No	ClinGen 1000Genomes ExAC gnomAD
CA41517166 rs1045165468	97	E>Q		No	ClinGen Ensembl
rs1284840159 CA345739117	101	G>V		No	ClinGen gnomAD
rs1356693169 CA345739123	102	P>L		No	ClinGen TOPMed gnomAD
CA41517194 rs868618009	104	P>L		No	ClinGen gnomAD
CA1515068 rs781758601	105	A>G		No	ClinGen ExAC TOPMed gnomAD
CA345739140 rs781758601	105	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA41517238 rs906188075	106	G>D		No	ClinGen Ensembl
CA345739152 rs1193513572	107	T>I		No	ClinGen gnomAD
rs368788565 CA41517256	108	P>L		No	ClinGen Ensembl
rs753296470 CA1515069	110	P>L		No	ClinGen ExAC gnomAD
CA1515070 rs531903832	111	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA345739186 rs1460757252	113	E>K		No	ClinGen TOPMed gnomAD
CA345739195 rs1443920639	114	A>D		No	ClinGen TOPMed gnomAD
rs1379088486 CA345739192	114	A>T		No	ClinGen gnomAD
rs749679920 CA1515072	115	D>E		No	ClinGen ExAC TOPMed gnomAD
CA345739198 rs1341264281	115	D>N		No	ClinGen TOPMed gnomAD
rs1172175319 CA345739207	116	G>R		No	ClinGen TOPMed
CA345739216 rs1455741725	117	D>G		No	ClinGen TOPMed
rs1282100187 CA345739214	117	D>N		No	ClinGen gnomAD
CA345739226 rs1354646195	118	C>F		No	ClinGen TOPMed gnomAD
CA345739225 rs1354646195	118	C>S		No	ClinGen TOPMed gnomAD
CA345739224 rs1354646195	118	C>Y		No	ClinGen TOPMed gnomAD
rs1213509877 CA345739231	119	A>S		No	ClinGen gnomAD
rs1213509877 CA345739229	119	A>T		No	ClinGen gnomAD
CA41517352 rs1036261180	119	A>V		No	ClinGen Ensembl
CA345739239 TCGA novel rs1572078939	120	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
RCV001328497 rs371884821	121	E>*		No	ClinVar dbSNP
COSM3771865 rs371884821 CA1515073	121	E>K	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA345739240 rs371884821	121	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA345739258 rs1009941890	123	A>E		No	ClinGen TOPMed
CA345739257 rs1459527608	123	A>S		No	ClinGen gnomAD
CA41517365 rs1009941890	123	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA345739262 rs1486786136	124	A>E		No	ClinGen TOPMed
rs897672488 CA41517370	124	A>T		No	ClinGen TOPMed
CA345739282 rs1249837335	127	S>N		No	ClinGen gnomAD
CA345739289 rs1189832932	128	G>R		No	ClinGen gnomAD
rs1380395470 CA345739293	129	G>R		No	ClinGen gnomAD
TCGA novel	130	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1515074 rs779031449	130	A>V		No	ClinGen ExAC gnomAD
CA345739309 rs1171199558	131	P>L		No	ClinGen gnomAD
rs1171199558 CA345739307	131	P>Q		No	ClinGen gnomAD
CA345739334 rs1295258817	133	Q>R		No	ClinGen TOPMed
rs1309817335 CA345739347	134	D>A		No	ClinGen TOPMed gnomAD
rs1352787536 CA345739353	134	D>E		No	ClinGen TOPMed gnomAD
rs1463946757 CA345739358	135	A>T		No	ClinGen TOPMed gnomAD
rs1384296431 CA345739367	135	A>V		No	ClinGen TOPMed
CA345739391 rs1402241939	137	R>C		No	ClinGen TOPMed gnomAD
rs1397307253 CA345739394	137	R>H		No	ClinGen TOPMed gnomAD
rs1397307253 CA345739396	137	R>L		No	ClinGen TOPMed gnomAD
CA345739387 rs1402241939	137	R>S		No	ClinGen TOPMed gnomAD
CA1515077 rs538695299	138	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA345739402 rs538695299	138	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs748145788 CA1515078	141	G>C		No	ClinGen ExAC gnomAD
rs772924840 CA1515080	142	S>G		No	ClinGen ExAC
CA345739469 rs1217288264	143	E>K		No	ClinGen gnomAD
CA1515082 rs547808412	144	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs145175293 CA1515084	145	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs145175293 CA1515085	145	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs753241289 CA1515086	145	A>V		No	ClinGen ExAC TOPMed gnomAD
CA1515087 rs146872359	146	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs146872359 CA345739522	146	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs764697911 CA345739535	147	P>L		No	ClinGen ExAC TOPMed gnomAD
rs764697911 CA41517470	147	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA1515088 rs764697911	147	P>R		No	ClinGen ExAC TOPMed gnomAD
rs754188527 CA345739540	148	E>*		No	ClinGen ExAC TOPMed gnomAD
rs754188527 CA1515089	148	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA345739563 rs1378178272	149	Q>*		No	ClinGen gnomAD
CA345739568 rs1572079233	149	Q>L		No	ClinGen Ensembl
rs961740282 CA41517499	150	E>D		No	ClinGen TOPMed gnomAD
rs757581275 CA1515090	151	P>L		No	ClinGen ExAC gnomAD
rs1572079249 CA345739591	151	P>T		No	ClinGen Ensembl
rs1374321638 CA345739622	152	P>L		No	ClinGen gnomAD
rs1300633122 CA345739617	152	P>S		No	ClinGen gnomAD
rs746145895 CA1515092	153	V>I		No	ClinGen ExAC gnomAD
CA345739650 rs1342729317	154	A>G		No	ClinGen gnomAD
CA345739651 rs1342729317	154	A>V		No	ClinGen gnomAD
rs1380926926 CA345739661	155	E>V		No	ClinGen TOPMed gnomAD
CA345739669 rs1295386990	156	P>A		No	ClinGen TOPMed
CA41517524 rs111614941	158	P>T		No	ClinGen gnomAD
CA345739736 rs1287904236	162	I>L		No	ClinGen Ensembl
CA345739766 rs1217567430	163	F>L		No	ClinGen gnomAD
rs972107389 CA41517526	164	S>T		No	ClinGen TOPMed
CA345739787 rs1265665158	165	Q>E		No	ClinGen gnomAD
CA345739792 rs1487171822	165	Q>H		No	ClinGen TOPMed gnomAD
rs780055160 CA41517548	166	R>H		No	ClinGen ExAC TOPMed gnomAD
rs780055160 CA1515094	166	R>P		No	ClinGen ExAC TOPMed gnomAD
rs1463265455 CA345739801	167	A>V		No	ClinGen TOPMed
CA345739808 rs1471077330	168	P>L		No	ClinGen TOPMed gnomAD
CA345739805 rs1173889875	168	P>S		No	ClinGen gnomAD
CA1515096 rs769681457	171	S>T		No	ClinGen ExAC gnomAD
CA1515097 rs773157680 CA345739826	172	G>R		No	ClinGen ExAC TOPMed gnomAD
CA345739831 rs1451591826	173	D>N		No	ClinGen TOPMed gnomAD
CA345739833 rs1451591826	173	D>Y		No	ClinGen TOPMed gnomAD
CA345739844 rs1368757412	174	G>D		No	ClinGen gnomAD
rs1288723915 CA345739839	174	G>S		No	ClinGen TOPMed gnomAD
rs1337438213 CA345739847	175	F>L		No	ClinGen gnomAD
rs1388982223 CA345739852	175	F>L		No	ClinGen TOPMed gnomAD
CA1515099 rs369601027	176	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1370296267 CA345739865	177	P>L		No	ClinGen gnomAD
CA1515100 rs774048119	178	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs759168621 CA1515101	179	M>L		No	ClinGen ExAC gnomAD
rs759168621 CA345739887	179	M>V		No	ClinGen ExAC gnomAD
rs767288381 CA1515102	180	V>M		No	ClinGen ExAC gnomAD
CA345739934 rs1226691304	182	S>A		No	ClinGen TOPMed
rs760290761 CA1515104	187	G>D		No	ClinGen ExAC gnomAD
rs764644442 CA1515105	188	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1558338955 CA345740032	189	S>N		No	ClinGen Ensembl
rs754346205 CA345740037	189	S>R		No	ClinGen ExAC TOPMed gnomAD
CA1515108 rs765582685	191	A>G		No	ClinGen ExAC gnomAD
CA345740079 rs1399690946	192	S>A		No	ClinGen gnomAD
rs1046869122 CA41517598	194	R>K		No	ClinGen TOPMed
CA1515109 rs537235220	194	R>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1459803726 CA345740116	195	T>A		No	ClinGen gnomAD
rs1324444777 CA345740121	195	T>I		No	ClinGen gnomAD
rs1447601130 CA345740137	196	P>L		No	ClinGen gnomAD
CA345740143 rs1167052543	197	P>L		No	ClinGen TOPMed
CA41517621 rs1002730981	197	P>S		No	ClinGen TOPMed
rs201795564 CA41517624	198	Q>*		No	ClinGen ESP TOPMed gnomAD
CA345740155 rs1223387451	198	Q>R		No	ClinGen TOPMed gnomAD
CA1515111 rs780286671	199	V>L		No	ClinGen ExAC gnomAD
rs1323259192 CA345740184	200	V>E		No	ClinGen gnomAD
rs1211644724 CA345740206	202	P>S		No	ClinGen TOPMed gnomAD
CA345740226 rs1184084584	203	S>I		No	ClinGen TOPMed
CA1515112 rs199651906	203	S>R		No	ClinGen ExAC TOPMed gnomAD
CA1515115 rs368196628	204	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1458211498 CA345740236	204	P>T		No	ClinGen gnomAD
CA345740260 rs1260805866	205	S>I		No	ClinGen gnomAD
CA1515116 rs749250005	206	L>P		No	ClinGen ExAC gnomAD
CA345740282 rs1182050494	207	S>C		No	ClinGen gnomAD
CA1515117 rs770746825	208	T>M		No	ClinGen ExAC gnomAD
rs770746825 CA345740303	208	T>R		No	ClinGen ExAC gnomAD
CA345740316 rs1572079756	209	F>S		No	ClinGen Ensembl
rs1333974660 CA345740349	211	G>A		No	ClinGen TOPMed gnomAD
rs1333974660 CA345740345	211	G>E		No	ClinGen TOPMed gnomAD
rs1466545226 CA345740339	211	G>R		No	ClinGen TOPMed gnomAD
CA1515124 rs777185825	212	D>E		No	ClinGen ExAC TOPMed gnomAD
CA1515123 rs139450075	212	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA1515122 rs139450075	212	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs762173422 CA345740364	213	T>K		No	ClinGen ExAC gnomAD
rs762173422 CA1515125	213	T>M		No	ClinGen ExAC gnomAD
CA345740365 rs762173422	213	T>R		No	ClinGen ExAC gnomAD
rs1318353446 CA345740369	214	A>D		No	ClinGen TOPMed gnomAD
TCGA novel	214	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345740366 rs1292378258	214	A>T		No	ClinGen gnomAD
rs200331319 CA1515128	215	A>P		No	ClinGen ExAC TOPMed gnomAD
rs200331319 CA1515129	215	A>T		No	ClinGen ExAC TOPMed gnomAD
CA345740382 rs1423014589	216	S>R		No	ClinGen TOPMed
CA345740384 rs751817676	217	H>D		No	ClinGen ExAC gnomAD
TCGA novel	217	H>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1515130 rs751817676	217	H>N		No	ClinGen ExAC gnomAD
CA1515131 rs755044006	217	H>Q		No	ClinGen ExAC gnomAD
rs977012763 CA41517769	218	S>F		No	ClinGen TOPMed gnomAD
CA1515133 rs752835171	219	L>F		No	ClinGen ExAC gnomAD
CA1515134 rs148774092	220	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA345740401 rs148774092	220	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1428820504 CA345740414	221	S>L		No	ClinGen TOPMed gnomAD
rs985860640 CA41517849	224	F>L		No	ClinGen TOPMed
CA41517851 rs375509137	225	D>V		No	ClinGen ESP TOPMed
rs540923616 CA1515137	226	S>C		No	ClinGen 1000Genomes ExAC gnomAD
CA1515138 rs540923616	226	S>F		No	ClinGen 1000Genomes ExAC gnomAD
CA345740498 rs1176965430	226	S>P		No	ClinGen gnomAD
rs146562015 CA345740518	227	F>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1515142 CA345740527 rs10865541	227	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146562015 CA1515140	227	F>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1312522735 CA345740515	227	F>V		No	ClinGen gnomAD
rs1268332441 CA345740538	228	T>A		No	ClinGen gnomAD
rs773820162 CA1515144	230	S>Y		No	ClinGen ExAC gnomAD
CA41517961 rs965387790	231	A>G		No	ClinGen gnomAD
rs766793590 CA1515146	231	A>S		No	ClinGen ExAC TOPMed gnomAD
rs766793590 CA345740575	231	A>T		No	ClinGen ExAC TOPMed gnomAD
CA345740585 rs965387790	231	A>V		No	ClinGen gnomAD
rs1322376303 CA345740606	232	F>L		No	ClinGen gnomAD
rs1209653558 CA345740620	233	I>T		No	ClinGen gnomAD
CA1515147 rs371953434	234	S>Y		No	ClinGen ESP ExAC gnomAD
CA345740664 rs1195856618	236	S>C		No	ClinGen TOPMed gnomAD
rs1475335617 CA345740708	238	P>H		No	ClinGen TOPMed gnomAD
rs1240864311 CA345740699	238	P>T		No	ClinGen gnomAD
rs906542332 CA41517985	239	G>R		No	ClinGen TOPMed gnomAD
CA345740716 rs906542332	239	G>S		No	ClinGen TOPMed gnomAD
rs1432982098 CA345740731	240	A>T		No	ClinGen gnomAD
CA345740743 rs1195601444	240	A>V		No	ClinGen TOPMed gnomAD
CA1515150 rs752675378	241	G>A		No	ClinGen ExAC gnomAD
CA345740758 rs752675378	241	G>V		No	ClinGen ExAC gnomAD
CA1515151 rs756236682	242	S>P		No	ClinGen ExAC gnomAD
rs778690090 CA1515152	243	P>L		No	ClinGen ExAC TOPMed gnomAD
rs200238233 CA1515153	244	A>P		No	ClinGen ExAC TOPMed gnomAD
CA1515155 rs758257038	244	A>V		No	ClinGen ExAC TOPMed gnomAD
rs200381361 CA1515156	245	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs780920005 CA1515159	246	A>D		No	ClinGen ExAC TOPMed gnomAD
rs754550846 CA1515158 COSM721109	246	A>T	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1217113242 CA345740843	247	S>N		No	ClinGen TOPMed
rs565484699 CA41518064	248	P>S		No	ClinGen 1000Genomes
rs1446943083 CA345740864	249	P>L		No	ClinGen TOPMed
rs747590362 CA1515160	250	P>L		No	ClinGen ExAC gnomAD
CA1515161 rs769386931	251	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs749851940 CA345740875	252	A>P		No	ClinGen ExAC gnomAD
CA1515164 rs749851940	252	A>S		No	ClinGen ExAC gnomAD
rs749851940 CA1515163	252	A>T		No	ClinGen ExAC gnomAD
CA345740881 rs1381006702	253	V>L		No	ClinGen TOPMed gnomAD
rs1157065303 CA345740900	254	P>L		No	ClinGen gnomAD
CA345740888 rs1471246118	254	P>S		No	ClinGen gnomAD
CA1515166 rs367769506	255	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA1515167 rs767583645	257	E>K		No	ClinGen ExAC gnomAD
CA345740958 rs1439522035	258	G>E		No	ClinGen gnomAD
rs532843039 CA1515168	259	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1515169 rs760638634	259	R>H		No	ClinGen ExAC gnomAD
rs753982817 CA1515171	260	P>H		No	ClinGen ExAC gnomAD
rs764295495 CA1515170	260	P>S		No	ClinGen ExAC gnomAD
TCGA novel	261	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1515172 rs758348865	261	E>K		No	ClinGen ExAC gnomAD
CA1515173 rs766454686	262	P>S		No	ClinGen ExAC TOPMed gnomAD
CA1515175 rs754852358	263	V>M		No	ClinGen ExAC gnomAD
CA1515176 rs780678491	264	A>V		No	ClinGen ExAC TOPMed gnomAD
CA1515178 rs371542203	265	M>T		No	ClinGen ESP ExAC gnomAD
CA1515177 rs747903695	265	M>V		No	ClinGen ExAC gnomAD
rs1363491524 CA345741057	266	R>G		No	ClinGen gnomAD
CA1515182 rs774857814	267	G>E		No	ClinGen ExAC TOPMed
CA1515180 rs748800063	267	G>R		No	ClinGen ExAC gnomAD
rs748800063 CA1515181	267	G>W		No	ClinGen ExAC gnomAD
rs548068716 CA1515185	268	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1515184 rs746192388	268	P>S		No	ClinGen ExAC gnomAD
rs764419569 CA1515188	271	A>P		No	ClinGen ExAC gnomAD
rs776815310 CA1515189	272	A>V		No	ClinGen ExAC gnomAD
CA1515193 rs754726611	273	P>L		No	ClinGen ExAC TOPMed gnomAD
rs199789871 CA1515191	273	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs199789871 CA1515192	273	P>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1233162404 CA345741197	276	S>P		No	ClinGen gnomAD
rs752446613 CA1515195	277	P>L		No	ClinGen ExAC TOPMed
rs755724563 CA1515197	278	E>D		No	ClinGen ExAC gnomAD
CA1515198 rs777434395	280	F>S		No	ClinGen ExAC gnomAD
rs142941546 CA41518450	281	A>P		No	ClinGen ESP TOPMed gnomAD
rs142941546 CA345741287	281	A>S		No	ClinGen ESP TOPMed gnomAD
rs142941546 CA345741284	281	A>T		No	ClinGen ESP TOPMed gnomAD
rs1190352042 CA345741294	281	A>V		No	ClinGen TOPMed gnomAD
CA1515201 rs779358370	284	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs1374778320 CA345741335	284	Q>R		No	ClinGen gnomAD
rs143380863 CA345741347	285	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA1515202 rs143380863	285	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs888937835 CA41518554	290	S>I		No	ClinGen TOPMed
CA1515205 rs149828348	291	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1353916668 CA345741433	292	D>H		No	ClinGen gnomAD
rs1353916668 CA345741432	292	D>N		No	ClinGen gnomAD
CA345741450 rs1414601786	293	P>A		No	ClinGen gnomAD
rs768954505 CA1515206	293	P>L		No	ClinGen ExAC gnomAD
CA345741448 rs1414601786	293	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA1515209 rs770066925	295	A>T		No	ClinGen ExAC gnomAD
CA1515211 rs759458791	297	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA345741494 rs759458791	297	A>T		No	ClinGen ExAC TOPMed gnomAD
rs767359170 CA1515212	298	L>V		No	ClinGen ExAC gnomAD
CA41518632 rs201138691	299	S>G		No	ClinGen gnomAD
rs998158367 CA41518666	300	M>R		No	ClinGen Ensembl
CA1515214 COSM1185824 rs368230760	300	M>V	lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
VAR_028442 CA1515215 rs11686212	301	S>G		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA345741554 rs753525355 CA1515216	301	S>R		No	ClinGen ExAC TOPMed gnomAD
rs200068871 CA41518691	302	E>D		No	ClinGen TOPMed
rs956986904 CA41518674	302	E>K		No	ClinGen Ensembl
rs1234230374 CA345741568	303	M>V		No	ClinGen TOPMed
CA1515217 rs756752332	304	D>N		No	ClinGen ExAC TOPMed gnomAD
CA1515218 rs778450239	304	D>V		No	ClinGen ExAC gnomAD
rs749908453 CA345741582	305	R>G		No	ClinGen ExAC TOPMed gnomAD
rs758901544 CA1515220	305	R>Q		No	ClinGen ExAC
rs749908453 CA1515219	305	R>W		No	ClinGen ExAC TOPMed gnomAD
CA1515221 rs756028186	306	R>S		No	ClinGen ExAC TOPMed gnomAD
CA345741591 rs747381621	307	N>D		No	ClinGen ExAC TOPMed gnomAD
rs747381621 CA1515222	307	N>H		No	ClinGen ExAC TOPMed gnomAD
rs769183401 CA1515223	307	N>S		No	ClinGen ExAC TOPMed gnomAD
rs781560913 CA1515224	308	D>N		No	ClinGen ExAC TOPMed gnomAD
rs781560913 CA345741598	308	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA1515227 rs773274814	309	A>G		No	ClinGen ExAC gnomAD
CA1515225 rs748441197	309	A>S		No	ClinGen ExAC gnomAD
rs748441197 CA1515226	309	A>T		No	ClinGen ExAC gnomAD
rs773274814 CA1515228	309	A>V		No	ClinGen ExAC gnomAD
TCGA novel	310	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1515229 rs771996011	311	L>I		No	ClinGen ExAC gnomAD
TCGA novel	312	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1515232 rs763940436	313	G>D		No	ClinGen ExAC TOPMed gnomAD
rs760426998 CA1515231	313	G>S		No	ClinGen ExAC gnomAD
rs763940436 CA345741629	313	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1377593248 CA345741631	314	E>K		No	ClinGen TOPMed
CA345741648 rs1204445417	316	T>M		No	ClinGen gnomAD
rs1484786586 CA345741644	316	T>P		No	ClinGen gnomAD
CA1515234 rs761391430	317	R>C		No	ClinGen ExAC TOPMed gnomAD
CA345741652 rs1426473967	317	R>H		No	ClinGen TOPMed gnomAD
rs1426473967 CA345741654	317	R>L		No	ClinGen TOPMed gnomAD
CA345741657 rs1191282821	318	G>*		No	ClinGen gnomAD
CA1515235 rs764831301	318	G>E		No	ClinGen ExAC gnomAD
rs144959917 CA1515236	319	V>I		No	ClinGen ESP ExAC gnomAD
CA1515238 rs570126941	320	L>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs372054009 CA1515237	320	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA1515240 rs755384299	321	R>P		No	ClinGen ExAC gnomAD
CA1515239 rs752076532	321	R>W		No	ClinGen ExAC TOPMed gnomAD
CA1515241 rs781644053	322	A>D		No	ClinGen ExAC gnomAD
CA41518893 rs781644053	322	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1301266120 CA345741676	323	V>L		No	ClinGen gnomAD
rs1301266120 CA345741675	323	V>M		No	ClinGen gnomAD
rs1224503037 CA345741681	324	A>T		No	ClinGen gnomAD
rs758660243 CA1515242	324	A>V		No	ClinGen ExAC TOPMed gnomAD
CA345741691 rs1453791596	325	T>I		No	ClinGen TOPMed gnomAD
CA345741694 rs1314883294	326	Q>*		No	ClinGen gnomAD
CA1515243 rs756361030	327	Q>*		No	ClinGen ExAC gnomAD
CA345741701 rs756361030	327	Q>E		No	ClinGen ExAC gnomAD
rs1558340418 CA345741702	327	Q>P		No	ClinGen Ensembl
rs370184348 CA1515244	328	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA345741710 rs370184348	328	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	329	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345741712 rs1211759477	329	G>S		No	ClinGen gnomAD
CA345741718 rs1251785709	330	A>T		No	ClinGen TOPMed gnomAD
CA1515246 rs770956772	331	V>M		No	ClinGen ExAC TOPMed gnomAD
CA345741734 rs1158924223	332	F>C		No	ClinGen gnomAD
rs1417693569 CA345741730	332	F>L		No	ClinGen gnomAD
CA41518915 rs1040194790	333	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	334	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA41518929 rs901296240	334	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1558340503 CA345741750	335	K>E		No	ClinGen Ensembl
CA1515249 rs747005020	336	E>K		No	ClinGen ExAC gnomAD
CA1515251 rs776372550	339	T>I		No	ClinGen ExAC gnomAD
rs1300101007 CA345741778	339	T>P		No	ClinGen gnomAD
rs1300101007 CA345741780	339	T>S		No	ClinGen gnomAD
rs764921515 CA1515253	340	M>I		No	ClinGen ExAC TOPMed gnomAD
CA1515252 rs761620395	340	M>V		No	ClinGen ExAC gnomAD
rs772779462 CA1515254	341	P>L		No	ClinGen ExAC TOPMed gnomAD
CA345741803 rs1272517526	343	L>F		No	ClinGen TOPMed gnomAD
rs762524007 CA1515255	344	R>G		No	ClinGen ExAC gnomAD
rs765867180 CA1515256	344	R>T		No	ClinGen ExAC TOPMed gnomAD
rs372341683 CA1515258	346	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA345741822 rs1558340586	346	D>G		No	ClinGen Ensembl
CA41519015 rs751131504	346	D>H		No	ClinGen ExAC gnomAD
CA1515257 rs751131504	346	D>N		No	ClinGen ExAC gnomAD
rs200831716 CA1515259	347	N>S		No	ClinGen ExAC TOPMed gnomAD
CA345741836 rs1476411971	348	I>T		No	ClinGen gnomAD
rs1318078690 CA345741833	348	I>V		No	ClinGen gnomAD
rs1417845884 CA345741839	349	Q>K		No	ClinGen gnomAD
CA345730560 rs1176558559	351	D>V		No	ClinGen gnomAD
rs750480442 CA1515290	357	M>I		No	ClinGen ExAC gnomAD
rs1251339638 CA345730640	357	M>T		No	ClinGen TOPMed gnomAD
rs548647910 CA1515291	358	L>F		No	ClinGen ExAC gnomAD
rs781102632 CA1515292	359	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1515293 rs748145933	359	R>H		No	ClinGen ExAC TOPMed gnomAD
rs769788169 CA1515294	362	G>D		No	ClinGen ExAC TOPMed gnomAD
CA345730702 rs1456968558	363	E>K		No	ClinGen TOPMed gnomAD
TCGA novel	365	A>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	365	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs138605007 CA1515295	365	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA345730751 rs1398029823	366	A>T		No	ClinGen TOPMed gnomAD
rs770439678 CA1515297	367	A>G		No	ClinGen ExAC gnomAD
CA345730773 rs1350227263	368	K>E		No	ClinGen TOPMed gnomAD
rs1415840436 CA345730781	368	K>N		No	ClinGen gnomAD
rs769235921 CA345730795	369	R>S		No	ClinGen TOPMed gnomAD
CA1515298 rs774192782	370	Q>*		No	ClinGen ExAC gnomAD
CA1515299 rs200558815	371	V>G		No	ClinGen 1000Genomes ExAC gnomAD
CA345730854 rs1251912400	374	A>V		No	ClinGen TOPMed gnomAD
CA41478605 CA1515303 rs373282152	375	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs143418079 CA1515302	375	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs143418079 CA1515301	375	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1572101517 CA345730864	376	S>*		No	ClinGen Ensembl
rs1255146248 CA345730889	380	S>P		No	ClinGen gnomAD
CA345730906 rs1193842162	382	V>A		No	ClinGen TOPMed gnomAD
CA1515306 rs765415574	384	L>*		No	ClinGen ExAC gnomAD
CA345730939 rs1436200002	387	L>P		No	ClinGen gnomAD
rs751666792	388	I>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA41498242 rs376624109	389	S>N		No	ClinGen ESP TOPMed gnomAD
TCGA novel	390	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs371079283 CA1515346	393	W>*		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	394	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1515349 rs765294663	397	V>A		No	ClinGen ExAC TOPMed gnomAD
rs757194160 CA1515348	397	V>M		No	ClinGen ExAC gnomAD
CA1515350 rs750192956	401	G>R	Variant assessed as Somatic; 4.661e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
COSM1407903 rs368315810 CA1515351	402	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD
CA1515352 rs779570131	402	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1399452268 CA345733552	405	T>I		No	ClinGen TOPMed
rs746733215 CA1515353	406	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1515355 rs780690810	408	G>S		No	ClinGen ExAC TOPMed gnomAD
CA345733573 rs1476443255	409	Q>*		No	ClinGen gnomAD
CA1515356 rs547884111	410	G>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1180656472 CA345733579	410	G>S		No	ClinGen gnomAD
rs141230933 CA1515358	412	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA345733601 rs1270679711	413	K>R		No	ClinGen TOPMed gnomAD
rs1132171 CA345733612	414	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA345733605 rs1440720187	414	S>R		No	ClinGen TOPMed
rs35775829 CA1515361	415	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1515360 rs550531429	415	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs759742539 CA1515362	417	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1266614860 CA345733630	418	T>N		No	ClinGen TOPMed
rs199781718 CA1515363	418	T>P		No	ClinGen ExAC gnomAD
CA345733646 rs1362018810	420	H>L		No	ClinGen gnomAD
CA345733650 rs1558369827	421	T>A		No	ClinGen Ensembl
rs145733257 CA1515364	421	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145733257 CA1515365	421	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA530456921 rs1340943334	423	D>*		No	ClinGen gnomAD
rs766141599 CA1515369	425	L>V		No	ClinGen ExAC TOPMed gnomAD
CA345733679 rs1444532392	426	Q>*		No	ClinGen gnomAD
CA345734309 rs1171717331	430	V>I		No	ClinGen gnomAD
CA345734376 rs1408464242	433	A>V		No	ClinGen gnomAD
rs1402330949 CA345734378	434	L>V		No	ClinGen gnomAD
CA1515390 rs767170506	438	L>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	438	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755605563 CA1515392	443	N>S		No	ClinGen ExAC gnomAD
CA1515393 rs777202991	444	A>T		No	ClinGen ExAC gnomAD
CA345734532 rs1435324165	445	E>D		No	ClinGen TOPMed gnomAD
rs753347351 CA1515394	449	E>*		No	ClinGen ExAC gnomAD
CA345734566 rs1230746321	450	P>A		No	ClinGen gnomAD
CA41500811 rs1002246339	452	G>E		No	ClinGen TOPMed gnomAD
rs569050873 CA1515397	452	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1033734630 CA41500814	453	N>S		No	ClinGen TOPMed
rs778064170 CA41500823	457	P>R		No	ClinGen Ensembl
rs780412113 CA1515400	460	Y>*		No	ClinGen ExAC gnomAD
CA345734635 rs1431421637	460	Y>C		No	ClinGen TOPMed
CA345734632 rs1426506814	460	Y>H		No	ClinGen TOPMed
rs1200023697 CA345734643	461	Y>F		No	ClinGen TOPMed
TCGA novel	461	Y>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769005424 CA1515402	462	E>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	463	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	464	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA41500834 rs1016157602	465	P>L		No	ClinGen TOPMed gnomAD
CA1515403 rs776815332	465	P>T		No	ClinGen ExAC TOPMed gnomAD
rs774197882 CA1515406	466	H>P		No	ClinGen ExAC gnomAD
CA1515408 rs759367201 COSM1162067	467	V>L	kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA1515407 rs759367201	467	V>M		No	ClinGen ExAC TOPMed gnomAD
CA41500866 rs201299468	468	Y>C		No	ClinGen TOPMed gnomAD
rs947790551 CA41500875	470	G>R		No	ClinGen Ensembl
rs775273317 CA1515409	471	R>C		No	ClinGen ExAC TOPMed gnomAD
COSM3380149 rs760250849 CA1515410	471	R>H	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs199714488 CA41513314	474	S>F		No	ClinGen Ensembl
CA41513304 rs963119034	474	S>P		No	ClinGen TOPMed
CA41513317 rs1036226494	475	M>V		No	ClinGen TOPMed
CA345737204 rs1206471741	476	V>A		No	ClinGen TOPMed
rs1454464653 CA345737257	479	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA345737275 rs1235232194	480	M>T		No	ClinGen gnomAD
rs749414227 CA1515447	481	R>L		No	ClinGen ExAC TOPMed gnomAD
CA1515446 rs777644669	481	R>S		No	ClinGen ExAC
rs150167013 CA1515449	482	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs771947585 CA1515448	482	I>V		No	ClinGen ExAC TOPMed gnomAD
CA1515451 rs768506037	484	H>R		No	ClinGen ExAC TOPMed gnomAD
CA1515454 rs769519523	485	A>E		No	ClinGen ExAC TOPMed gnomAD
rs372676903 CA1515453	485	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs769519523 COSM442853 CA345737388	485	A>V	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
TCGA novel	489	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	490	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766963698 CA1515457	490	Y>C		No	ClinGen ExAC gnomAD
CA345737499 rs1370097061	490	Y>H		No	ClinGen TOPMed
rs1390899247 CA345737549	492	G>E		No	ClinGen gnomAD
CA345737571 rs759969906	493	N>I		No	ClinGen ExAC TOPMed gnomAD
CA1515459 rs759969906	493	N>S		No	ClinGen ExAC TOPMed gnomAD
CA1515461 rs753105445	497	S>L		No	ClinGen ExAC TOPMed gnomAD
CA345737633 rs1320140949	497	S>P		No	ClinGen gnomAD
rs753105445 CA1515462	497	S>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	502	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1330338976 CA345737688	505	K>M		No	ClinGen gnomAD
rs779961509 CA1515467	509	S>G		No	ClinGen ExAC gnomAD
rs750280628 CA41513461	509	S>N		No	ClinGen Ensembl
TCGA novel	515	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1191069085 CA345741326	517	Q>H		No	ClinGen TOPMed
CA345741336 rs1436866330	518	G>A		No	ClinGen gnomAD
CA345741338 rs1436866330	518	G>V		No	ClinGen gnomAD
CA345741363 rs1294878654	520	A>G		No	ClinGen gnomAD
CA1515502 rs144504658	523	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1515504 rs758548825	524	G>S		No	ClinGen ExAC TOPMed gnomAD
CA345741444 rs1208602643	526	S>N		No	ClinGen gnomAD
CA345741452 rs1273699069	527	S>G		No	ClinGen TOPMed
rs201020050 CA1515505	527	S>N		No	ClinGen ExAC TOPMed gnomAD
CA1515507 rs199541864	527	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA1515508 rs777641249	528	V>M		No	ClinGen ExAC gnomAD
rs142960119 CA1515509	529	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200623526 CA41527819	530	Q>R		No	ClinGen 1000Genomes gnomAD
CA345741511 rs1406256969	531	E>D		No	ClinGen TOPMed gnomAD
CA345741523 rs1298679665	532	G>V		No	ClinGen gnomAD
rs373791841 CA1515512	534	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA1515513 rs771677124	534	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1193610109	535	A>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1515537 rs773583668	535	A>V		No	ClinGen ExAC gnomAD
rs763173732 CA1515538	536	S>C		No	ClinGen ExAC gnomAD
CA345741971 rs1224636001	536	S>P		No	ClinGen TOPMed
rs987514811 CA41531111	537	I>S		No	ClinGen Ensembl
rs140127955 CA1515539	537	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA1515541 rs759580300	538	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1515540 rs547696140	538	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA41531141 rs1040484813	541	R>K		No	ClinGen TOPMed
COSM76849 rs201978278 CA1515545	543	R>C	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA1515546 rs750189893	543	R>L		No	ClinGen ExAC gnomAD
CA41531177 rs996248313	544	L>R		No	ClinGen TOPMed gnomAD
TCGA novel	545	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345742126 rs369996771	546	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs754552121 CA1515550	546	R>L		No	ClinGen ExAC TOPMed gnomAD
CA1515551 rs754552121	546	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs369996771 CA1515549	546	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA1515552 rs748599705	548	M>I		No	ClinGen ExAC gnomAD
rs1249649086 CA345742213	551	M>I		No	ClinGen gnomAD
rs1055569460 CA41531224	558	M>I		No	ClinGen Ensembl
CA345742285 rs1305077803	560	D>A		No	ClinGen TOPMed
rs1558405500 CA345742280	560	D>Y		No	ClinGen Ensembl
CA345742292 rs1450041861	561	Y>C		No	ClinGen gnomAD
CA345742300 rs1405607719	562	V>A		No	ClinGen TOPMed
CA41536317 rs556697485	563	L>V		No	ClinGen TOPMed gnomAD
rs201791969 CA1515600	565	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs17851115 CA41536340	566	E>D		No	ClinGen Ensembl
CA1515601 rs375526948	567	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149975533 CA41536362	568	Y>C		No	ClinGen ESP TOPMed gnomAD
rs1462667736 CA345742336	569	H>N		No	ClinGen gnomAD
TCGA novel	571	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1515605 rs568723060	573	K>E		No	ClinGen 1000Genomes ExAC gnomAD
CA345742373 rs1267471742	574	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1417086082 CA345742370	574	Y>H		No	ClinGen gnomAD
rs1176641212 CA345742378	575	Y>H		No	ClinGen gnomAD
rs763452049 CA1515607	576	P>S		No	ClinGen ExAC gnomAD
rs762185727 CA1515609	577	E>G		No	ClinGen ExAC gnomAD
rs1272325667 CA345742410	579	E>D		No	ClinGen TOPMed gnomAD
rs1024431525 CA41536387	579	E>G		No	ClinGen TOPMed
rs1436796623 CA345742405	579	E>K		No	ClinGen gnomAD
rs750785909 CA1515611	583	L>V		No	ClinGen ExAC gnomAD
CA345742447 rs1201913995	585	G>A		No	ClinGen gnomAD
rs780411941 CA1515613	585	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs111556571 CA41536463	587	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs111556571 CA1515616	587	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs373998922 CA1515618	588	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs748286237 CA1515617	588	R>W		No	ClinGen ExAC TOPMed gnomAD
rs778857265 CA1515619	589	I>T		No	ClinGen ExAC
rs867720794 CA41536488	590	S>F		No	ClinGen Ensembl
rs1408707837 CA345742483	592	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1280842286 CA345733706	593	I>L		No	ClinGen gnomAD
rs769598999 CA1515662	594	G>E		No	ClinGen ExAC gnomAD
CA1515661 rs747768731	594	G>R		No	ClinGen ExAC gnomAD
CA41493547 CA1515664 rs772796329	596	I>L		No	ClinGen ExAC TOPMed gnomAD
CA1515666 rs771530121	596	I>M		No	ClinGen ExAC gnomAD
CA1515665 rs748854016	596	I>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	598	T>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs553870873 CA1515667	599	A>G		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	601	K>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	605	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1515671 rs760848130	606	V>A		No	ClinGen ExAC gnomAD
rs148573349 CA1515670	606	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs764323391 CA1515672	608	K>E		No	ClinGen ExAC gnomAD
rs753892900 CA1515673	608	K>R		No	ClinGen ExAC TOPMed gnomAD
CA345733813 rs1365916865	609	V>I		No	ClinGen gnomAD
CA345733826 rs1298027984	611	Q>E		No	ClinGen TOPMed
rs968847614 CA41493641	613	L>S		No	ClinGen TOPMed
CA1515674 rs757367162	614	D>G		No	ClinGen ExAC TOPMed gnomAD
CA41493663 rs1017956854	614	D>Y		No	ClinGen Ensembl
CA345733884 rs1237831100	617	Q>H		No	ClinGen gnomAD
rs375476857 CA345733879	617	Q>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA1515678 rs375476857	617	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs780997816 CA1515679	618	G>D		No	ClinGen ExAC TOPMed gnomAD
rs560729831 CA1515680	619	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1490325534 CA345733956	622	V>A		No	ClinGen gnomAD
rs147899735 CA1515681	622	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1177902089 CA345733966	623	L>S		No	ClinGen gnomAD
rs1168339386 CA345733987	624	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	624	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780465916 CA1515707	626	S>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs375729532 CA1515708	627	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA1515711 rs761982198	631	L>R		No	ClinGen ExAC gnomAD
rs773317270 CA1515713	632	G>R		No	ClinGen ExAC TOPMed gnomAD
rs767481344 CA1515715	634	N>S		No	ClinGen ExAC TOPMed gnomAD
CA1515716 rs752736129	636	F>V		No	ClinGen ExAC gnomAD
CA1515718 rs763918899	637	A>E		No	ClinGen ExAC TOPMed gnomAD
CA1515719 rs763918899	637	A>V		No	ClinGen ExAC TOPMed gnomAD
CA345734290 rs1218044726	638	E>D		No	ClinGen TOPMed
rs1176569439 CA345734293	639	A>S		No	ClinGen gnomAD
rs145629807 CA1515721	641	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA345734418 rs1358949616	646	I>V		No	ClinGen gnomAD
rs1432012329 CA345734734	651	P>S		No	ClinGen gnomAD
CA1515724 rs370364504	654	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA1515723 rs769302726	654	A>T		No	ClinGen ExAC TOPMed gnomAD
CA1515725 rs747448521	655	V>L		No	ClinGen ExAC TOPMed gnomAD
CA345734775 rs1323004677	656	A>T		No	ClinGen gnomAD
rs374582702 CA1515748	658	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs374582702 CA345734792	658	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA345734804 rs1277933908	659	N>D		No	ClinGen gnomAD
rs561539161 CA345734814	659	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1515750 rs373313690	660	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1316860924 CA345734841	661	A>V		No	ClinGen gnomAD
CA345734843 rs1209116401	662	V>L		No	ClinGen gnomAD
rs1209116401 CA345734842	662	V>M		No	ClinGen gnomAD
CA1515752 rs774526305	663	C>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	663	C>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345734870 rs1316163657	666	Y>C		No	ClinGen TOPMed
rs1248160960 CA345734877	667	L>P		No	ClinGen TOPMed
CA345734882 rs1444845971	668	G>D		No	ClinGen gnomAD
rs776501230 CA1515755	671	K>N		No	ClinGen ExAC gnomAD
rs768684672 CA1515754	671	K>R		No	ClinGen ExAC gnomAD
CA345734917 rs1270953829	673	S>C		No	ClinGen Ensembl
rs201380495 CA1515758	675	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs764884092 CA1515757	675	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1515760 rs766066824	676	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA1515759 rs762463682	676	Q>L		No	ClinGen ExAC gnomAD
CA345734957 rs1453602755	680	M>I		No	ClinGen gnomAD
rs751036363 CA1515761	680	M>T		No	ClinGen ExAC gnomAD
rs1353577053 CA345734953	680	M>V		No	ClinGen TOPMed gnomAD
CA345734965 rs1338485097	681	V>A		No	ClinGen gnomAD
CA345734970 rs1243982530	682	Q>R		No	ClinGen gnomAD
CA1515763 rs767995913	683	Q>R		No	ClinGen ExAC gnomAD
CA1515766 rs756645816	685	P>A		No	ClinGen ExAC gnomAD
CA1515767 rs777963713	686	R>S		No	ClinGen ExAC gnomAD
rs749467670 CA345735005	687	H>Q		No	ClinGen TOPMed gnomAD
CA1515768 rs368611901	687	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1187276342 CA345735013	688	Y>*		No	ClinGen gnomAD
rs755284763 CA41495797	689	L>V		No	ClinGen TOPMed gnomAD
CA1515769 rs200924915	690	H>P		No	ClinGen ExAC TOPMed gnomAD
rs1572218275 CA345735030	691	E>D		No	ClinGen Ensembl
CA1515773 rs745940454	691	E>G		No	ClinGen ExAC gnomAD
CA1515772 rs779320275	691	E>K		No	ClinGen ExAC TOPMed gnomAD
CA345735026 rs779320275	691	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs772335851 CA1515774	692	S>T		No	ClinGen ExAC gnomAD
CA1515775 rs371580487	693	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1395303714 CA345735046	694	L>F		No	ClinGen gnomAD
rs769792458 CA1515777	694	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1224459345 CA345735064	696	N>K		No	ClinGen TOPMed
TCGA novel	696	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345735067 rs1277040737	697	L>P		No	ClinGen gnomAD
rs565404134 CA1515779	697	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1515783 rs766942805	700	M>R		No	ClinGen ExAC gnomAD
CA1515784 rs532533220	701	Y>*		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	701	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1200289188 CA345735098	702	E>*		No	ClinGen gnomAD
rs761042848 CA1515785	702	E>G		No	ClinGen ExAC gnomAD
CA1515788 rs138265331	707	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA345735129 rs1262573982	707	R>W		No	ClinGen TOPMed gnomAD
rs547826293 CA1515790	709	M>L		No	ClinGen 1000Genomes ExAC gnomAD
CA345735142 rs1236254943	709	M>T		No	ClinGen TOPMed gnomAD
rs547826293 CA1515789	709	M>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1465706776 CA345735188	715	L>Q		No	ClinGen gnomAD
rs1472485943 CA345735187	715	L>V		No	ClinGen gnomAD
CA1515791 rs758699998	716	L>P		No	ClinGen ExAC gnomAD
VAR_035869	717	E>Q	a breast cancer sample; somatic mutation [UniProt]	No	UniProt
CA345735205 rs1358872430	718	A>S		No	ClinGen TOPMed
rs1386803221 CA345735209	719	V>I		No	ClinGen gnomAD
CA345735215 rs1297428988	720	A>T		No	ClinGen gnomAD
rs200902586 CA1515795	721	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1515796 rs749065963	722	K>Q		No	ClinGen ExAC gnomAD
rs770652153 CA1515798 CA1515797	723	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1414438268 CA345735234	723	E>Q		No	ClinGen gnomAD
CA41495941 rs201274832	725	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1374355312 CA345735246	725	D>H		No	ClinGen TOPMed
CA345735247 rs1374355312	725	D>Y		No	ClinGen TOPMed
rs759145260 CA1515799	726	S>G		No	ClinGen ExAC gnomAD
rs771783107 CA1515800	727	F>C		No	ClinGen ExAC
CA345735264 CA345735265 rs6767	727	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1353208099 CA345735260	727	F>L		No	ClinGen TOPMed gnomAD
CA345735261 rs1353208099	727	F>V		No	ClinGen TOPMed gnomAD
rs760275909 CA1515802	729	T>A		No	ClinGen ExAC gnomAD
rs1490650993 CA345735278	729	T>I		No	ClinGen TOPMed gnomAD
CA345735281 rs1265312341	730	Q>*		No	ClinGen gnomAD
CA345735280 rs1265312341	730	Q>E		No	ClinGen gnomAD
rs912611566 CA41495989	731	C>G		No	ClinGen TOPMed
rs569830694 CA1515803	732	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA1515804 rs777336908	733	K>E		No	ClinGen ExAC
rs762423405 CA1515805	734	L>V		No	ClinGen ExAC gnomAD
rs765631395 CA1515806	735	A>T		No	ClinGen ExAC gnomAD

1 associated diseases with Q8WVT3

[MIM: 617669]: Encephalopathy, progressive, early-onset, with brain atrophy and spasticity (PEBAS)

An autosomal recessive, progressive encephalopathy characterized by central nervous system atrophy and dysfunction, spasticity, microcephaly, global developmental delay, and hearing loss. {ECO:0000269|PubMed:28777934}. Note=The disease is caused by variants affecting the gene represented in this entry. Cells display a fragmented Golgi apparatus (PubMed:28777934). {ECO:0000269|PubMed:28777934}.

Without disease ID

An autosomal recessive, progressive encephalopathy characterized by central nervous system atrophy and dysfunction, spasticity, microcephaly, global developmental delay, and hearing loss. {ECO:0000269|PubMed:28777934}. Note=The disease is caused by variants affecting the gene represented in this entry. Cells display a fragmented Golgi apparatus (PubMed:28777934). {ECO:0000269|PubMed:28777934}.

4 regional properties for Q8WVT3

Type	Name	Position	InterPro Accession
repeat	Tetratricopeptide repeat	545 - 578	IPR019734-1
repeat	Tetratricopeptide repeat	580 - 613	IPR019734-2
repeat	Tetratricopeptide repeat	620 - 653	IPR019734-3
repeat	Tetratricopeptide repeat	654 - 687	IPR019734-4

Functions

		Description
EC Number
Subcellular Localization	Endoplasmic reticulum-Golgi intermediate compartment Nucleus	Mainly localizes to structures resembling the Golgi and a small amount is found in the nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

9 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
endoplasmic reticulum-Golgi intermediate compartment	A complex system of membrane-bounded compartments located between endoplasmic reticulum (ER) and the Golgi complex, with a distinctive membrane protein composition; involved in ER-to-Golgi and Golgi-to-ER transport.
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
kinetochore	A multisubunit complex that is located at the centromeric region of DNA and provides an attachment point for the spindle microtubules.
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.
TRAPP complex	A large complex that acts as a tethering factor involved in transporting vesicles from the ER through the Golgi to the plasma membrane. A TRAPP (transport protein particle) complex has a core set of proteins which are joined by specific subunits depending on the cellular component where a given TRAPP complex is active.
TRAPPIII protein complex	A complex that functions in anterograde transport at the Golgi and also regulates autophagy. In yeast it includes at least the following subunits: Bet3 (as homodimer), Bet5, Trs20, Trs23, Trs31, Trs33, Trs85. TRAPPIII may include further, as yet undescribed, proteins.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

7 GO annotations of biological process

Name	Definition
COPII vesicle coating	The addition of COPII proteins and adaptor proteins to ER membranes during the formation of transport vesicles, forming a vesicle coat.
endoplasmic reticulum to Golgi vesicle-mediated transport	The directed movement of substances from the endoplasmic reticulum (ER) to the Golgi, mediated by COP II vesicles. Small COP II coated vesicles form from the ER and then fuse directly with the cis-Golgi. Larger structures are transported along microtubules to the cis-Golgi.
Golgi organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the Golgi apparatus.
metaphase plate congression	The alignment of chromosomes at the metaphase plate (spindle equator), a plane halfway between the poles of the spindle.
positive regulation of protein localization to kinetochore	Any process that activates or increases the frequency, rate or extent of protein localization to kinetochore.
regulation of kinetochore assembly	Any process that modulates the rate, frequency, or extent of kinetochore assembly, the aggregation, arrangement and bonding together of a set of components to form the kinetochore, a multisubunit complex that is located at the centromeric region of DNA and provides an attachment point for the spindle microtubules.
vesicle tethering	The initial, indirect interaction between a vesicle membrane and a membrane to which it is targeted for fusion. This interaction is mediated by tethering factors (or complexes), which interact with both membranes. Interaction can occur via direct binding to membrane phospholipids or membrane proteins, or via binding to vesicle coat proteins. This process is distinct from and prior to interaction between factors involved in fusion.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P0AEB2	dacA	D-alanyl-D-alanine carboxypeptidase DacA	Escherichia coli (strain K12)	PR

10	20	30	40	50	60
MEDAGGGEET	PAPEAPHPPQ	LAPPEEQGLL	FQEETIDLGG	DEFGSEENET	ASEGSSPLAD
70	80	90	100	110	120
KLNEHMMESV	LISDSPNSEG	DAGDLGRVRD	EAEPGGEGDP	GPEPAGTPSP	SGEADGDCAP
130	140	150	160	170	180
EDAAPSSGGA	PRQDAAREVP	GSEAARPEQE	PPVAEPVPVC	TIFSQRAPPA	SGDGFEPQMV
190	200	210	220	230	240
KSPSFGGASE	ASARTPPQVV	QPSPSLSTFF	GDTAASHSLA	SDFFDSFTTS	AFISVSNPGA
250	260	270	280	290	300
GSPAPASPPP	LAVPGTEGRP	EPVAMRGPQA	AAPPASPEPF	AHIQAVFAGS	DDPFATALSM
310	320	330	340	350	360
SEMDRRNDAW	LPGEATRGVL	RAVATQQRGA	VFVDKENLTM	PGLRFDNIQG	DAVKDLMLRF
370	380	390	400	410	420
LGEKAAAKRQ	VLNADSVEQS	FVGLKQLISC	RNWRAAVDLC	GRLLTAHGQG	YGKSGLLTSH
430	440	450	460	470	480
TTDSLQLWFV	RLALLVKLGL	FQNAEMEFEP	FGNLDQPDLY	YEYYPHVYPG	RRGSMVPFSM
490	500	510	520	530	540
RILHAELQQY	LGNPQESLDR	LHKVKTVCSK	ILANLEQGLA	EDGGMSSVTQ	EGRQASIRLW
550	560	570	580	590	600
RSRLGRVMYS	MANCLLLMKD	YVLAVEAYHS	VIKYYPEQEP	QLLSGIGRIS	LQIGDIKTAE
610	620	630	640	650	660
KYFQDVEKVT	QKLDGLQGKI	MVLMNSAFLH	LGQNNFAEAH	RFFTEILRMD	PRNAVANNNA
670	680	690	700	710	720
AVCLLYLGKL	KDSLRQLEAM	VQQDPRHYLH	ESVLFNLTTM	YELESSRSMQ	KKQALLEAVA
730
GKEGDSFNTQ	CLKLA