PMID: 31592138

Computational analysis of functional SNPs in Alzheimer's disease-associated endocytosis genes.

PeerJ

HJ Tey, CH Ng

2019

1826 variants were identified in this publication

Variant ID	Gene	cDNA	Protein	Consequence	Exon	Intron
21-34022588-C-A	SYNJ1	c.3060G>T	p.Met1020Ile	Missense	23/32	-
21-34002227-G-A	SYNJ1	c.*1078C>T	-	3-UTRSNV	32/32	-
21-34029032-C-G	SYNJ1	c.2877G>C	p.Gln959His	Missense	21/32	-
21-34037313-A-G	SYNJ1	c.2331T>C	p.Pro777Pro	Synonymous	18/32	-
21-34003882-C-T	SYNJ1	c.4262G>A	p.Arg1421Gln	Missense	32/32	-
11-85685808-T-C	PICALM	c.1887A>G	p.Ile629Met	Missense	19/20	-
21-34003838-T-C	SYNJ1	c.4306A>G	p.Ile1436Val	Missense	32/32	-
21-34059359-A-G	SYNJ1	c.994T>C	p.Tyr332His	Missense	8/32	-
11-85707933-C-T	PICALM	c.1194G>A	p.Gln398Gln	Synonymous	12/20	-
21-34003357-A-C	SYNJ1	c.4787T>G	p.Phe1596Cys	Missense	32/32	-
21-34011260-C-T	SYNJ1	c.3990G>A	p.Arg1330Arg	Synonymous	31/32	-
21-34015774-A-G	SYNJ1	c.3548-7T>C	-	IntronicSNV	-	26/31
X-19560244-G-T	SH3KBP1	c.1691C>A	p.Ala564Asp	Missense	16/18	-
21-34003858-C-T	SYNJ1	c.4286G>A	p.Arg1429Gln	Missense	32/32	-
21-34003858-C-A	SYNJ1	c.4286G>T	p.Arg1429Leu	Missense	32/32	-
X-19626051-C-T	SH3KBP1	c.1005+5G>A	-	IntronicSNV	-	9/17
21-34042647-C-T	SYNJ1	c.1879G>A	p.Gly627Ser	Missense	15/32	-
21-34050982-C-T	SYNJ1	c.1600G>A	p.Ala534Thr	Missense	12/32	-
21-34058195-A-G	SYNJ1	c.1098T>C	p.Asp366Asp	Synonymous	9/32	-
21-34067446-C-T	SYNJ1	c.743G>A	p.Cys248Tyr	Missense	5/32	-
11-85711701-G-A	PICALM	c.1139C>T	p.Pro380Leu	Missense	11/20	-
11-85685821-T-C	PICALM	c.1874A>G	p.Gln625Arg	Missense	19/20	-
21-34003391-G-A	SYNJ1	c.4753C>T	p.Leu1585Phe	Missense	32/32	-
X-19560124-C-T	SH3KBP1	c.1811G>A	p.Ser604Asn	Missense	16/18	-
11-85722172-A-G	PICALM	c.666T>C	p.Tyr222Tyr	Synonymous	7/20	-
21-34072367-A-G	SYNJ1	c.377T>C	p.Val126Ala	Missense	4/32	-
11-85779703-C-T	PICALM	c.120G>A	p.Lys40Lys	Synonymous	1/20	-
X-19764459-G-A	SH3KBP1	c.263C>T	p.Thr88Met	Missense	3/18	-
21-34011414-G-A	SYNJ1	c.3836C>T	p.Pro1279Leu	Missense	31/32	-
21-34003744-G-A	SYNJ1	c.4400C>T	p.Ser1467Leu	Missense	32/32	-
X-19606790-C-T	SH3KBP1	c.1269G>A	p.Glu423Glu	Synonymous	12/18	-
21-34004060-C-A	SYNJ1	c.4084G>T	p.Asp1362Tyr	Missense	32/32	-
X-19564141-C-T	SH3KBP1	c.1522G>A	p.Asp508Asn	Missense	15/18	-
11-85687719-G-C	PICALM	c.1786C>G	p.Pro596Ala	Missense	18/20	-
21-34002420-T-C	SYNJ1	c.*885A>G	-	3-UTRSNV	32/32	-
X-19552577-T-A	SH3KBP1	c.*1958A>T	-	3-UTRSNV	18/18	-
X-19587245-G-A	SH3KBP1	c.1360C>T	p.Leu454Phe	Missense	13/18	-
X-19606766-G-A	SH3KBP1	c.1293C>T	p.His431His	Synonymous	12/18	-
21-34003744-G-T	SYNJ1	c.4400C>A	p.Ser1467*	Nonsense	32/32	-
11-85670054-G-A	PICALM	c.*35C>T	-	3-UTRSNV	20/20	-
X-19725093-C-T	SH3KBP1	c.296G>A	p.Arg99Gln	Missense	4/18	-
21-34045735-T-C	SYNJ1	c.1758A>G	p.Gln586Gln	Synonymous	14/32	-
X-19587278-C-T	SH3KBP1	c.1327G>A	p.Gly443Ser	Missense	13/18	-
21-34058050-A-G	SYNJ1	c.1235+8T>C	-	IntronicSNV	-	9/31
11-85733496-T-C	PICALM	c.366A>G	p.Thr122Thr	Synonymous	4/20	-
21-34029006-A-C	SYNJ1	c.2903T>G	p.Ile968Arg	Missense	21/32	-
21-34029006-A-G	SYNJ1	c.2903T>C	p.Ile968Thr	Missense	21/32	-
11-85687722-G-T	PICALM	c.1783C>A	p.Pro595Thr	Missense	18/20	-
11-85711726-G-A	PICALM	c.1114C>T	p.Pro372Ser	Missense	11/20	-
X-19606776-G-A	SH3KBP1	c.1283C>T	p.Pro428Leu	Missense	12/18	-
11-85742636-T-G	PICALM	c.148A>C	p.Asn50His	Missense	2/20	-
21-34003452-A-C	SYNJ1	c.4692T>G	p.Gly1564Gly	Synonymous	32/32	-
21-34045820-C-T	SYNJ1	c.1673G>A	p.Ser558Asn	Missense	14/32	-
11-85692949-A-C	PICALM	c.1614T>G	p.Asp538Glu	Missense	15/20	-
X-19552215-T-C	SH3KBP1	c.*2320A>G	-	3-UTRSNV	18/18	-
21-34045775-C-T	SYNJ1	c.1718G>A	p.Arg573Gln	Missense	14/32	-
21-34058075-A-C	SYNJ1	c.1218T>G	p.Asn406Lys	Missense	9/32	-
21-34058075-A-G	SYNJ1	c.1218T>C	p.Asn406Asn	Synonymous	9/32	-
11-85722166-A-T	PICALM	c.672T>A	p.Asp224Glu	Missense	7/20	-
X-19626155-G-A	SH3KBP1	c.906C>T	p.Ile302Ile	Synonymous	9/18	-
X-19626155-G-T	SH3KBP1	c.906C>A	p.Ile302Ile	Synonymous	9/18	-
21-34072193-G-A	SYNJ1	c.551C>T	p.Ala184Val	Missense	4/32	-
11-85726014-G-A	PICALM	c.453-8C>T	-	IntronicSNV	-	4/19
X-19564083-A-G	SH3KBP1	c.1580T>C	p.Val527Ala	Missense	15/18	-
21-34030091-C-G	SYNJ1	c.2513G>C	p.Cys838Ser	Missense	19/32	-
21-34011378-G-A	SYNJ1	c.3872C>T	p.Ser1291Phe	Missense	31/32	-
21-34053877-T-C	SYNJ1	c.1399A>G	p.Met467Val	Missense	11/32	-
11-85692988-A-G	PICALM	c.1575T>C	p.Leu525Leu	Synonymous	15/20	-
21-34003690-G-A	SYNJ1	c.4454C>T	p.Pro1485Leu	Missense	32/32	-
21-34011367-G-T	SYNJ1	c.3883C>A	p.Pro1295Thr	Missense	31/32	-
21-34011367-G-A	SYNJ1	c.3883C>T	p.Pro1295Ser	Missense	31/32	-
21-34029022-T-G	SYNJ1	c.2887A>C	p.Ser963Arg	Missense	21/32	-
21-34072313-G-A	SYNJ1	c.431C>T	p.Ser144Leu	Missense	4/32	-
11-85725927-G-A	PICALM	c.532C>T	p.Leu178Phe	Missense	5/20	-
11-85737338-C-T	PICALM	c.345G>A	p.Leu115Leu	Synonymous	3/20	-
21-34045672-T-G	SYNJ1	c.1821A>C	p.Leu607Phe	Missense	14/32	-
X-19817760-A-C	SH3KBP1	c.162+36483T>G	-	IntronicSNV	-	2/17
X-19764494-T-C	SH3KBP1	c.228A>G	p.Glu76Glu	Synonymous	3/18	-
11-85779935-C-T	PICALM	c.1-113G>A	-	5-UTRSNV	1/20	-
21-34045830-C-T	SYNJ1	c.1663G>A	p.Val555Ile	Missense	14/32	-
21-34045830-C-A	SYNJ1	c.1663G>T	p.Val555Leu	Missense	14/32	-
11-85707933-C-A	PICALM	c.1194G>T	p.Gln398His	Missense	12/20	-
21-34058162-C-T	SYNJ1	c.1131G>A	p.Met377Ile	Missense	9/32	-
21-34018780-G-A	SYNJ1	c.3287C>T	p.Ser1096Leu	Missense	24/32	-
X-19560294-T-G	SH3KBP1	c.1641A>C	p.Ala547Ala	Synonymous	16/18	-
21-34002532-G-A	SYNJ1	c.*773C>T	-	3-UTRSNV	32/32	-
21-34002532-G-C	SYNJ1	c.*773C>G	-	3-UTRSNV	32/32	-
21-34018741-C-T	SYNJ1	c.3326G>A	p.Arg1109Gln	Missense	24/32	-
21-34012038-C-T	SYNJ1	c.3757G>A	p.Ala1253Thr	Missense	30/32	-
21-34012077-G-A	SYNJ1	c.3718C>T	p.Arg1240Cys	Missense	30/32	-
21-34003672-C-T	SYNJ1	c.4472G>A	p.Ser1491Asn	Missense	32/32	-
11-85692813-C-T	PICALM	c.1654G>A	p.Gly552Ser	Missense	16/20	-
21-34018063-G-A	SYNJ1	c.3401C>T	p.Pro1134Leu	Missense	25/32	-
X-19587235-C-T	SH3KBP1	c.1370G>A	p.Arg457His	Missense	13/18	-
21-34045821-T-C	SYNJ1	c.1672A>G	p.Ser558Gly	Missense	14/32	-
21-34029139-C-G	SYNJ1	c.2770G>C	p.Val924Leu	Missense	21/32	-
11-85707966-T-C	PICALM	c.1161A>G	p.Ser387Ser	Synonymous	12/20	-
21-34029180-A-G	SYNJ1	c.2729T>C	p.Phe910Ser	Missense	21/32	-
21-34002240-C-T	SYNJ1	c.*1065G>A	-	3-UTRSNV	32/32	-
X-19854386-C-G	SH3KBP1	c.19G>C	p.Glu7Gln	Missense	2/18	-
11-85711727-T-G	PICALM	c.1113A>C	p.Ala371Ala	Synonymous	11/20	-
21-34067416-C-T	SYNJ1	c.773G>A	p.Arg258Gln	Missense	5/32	-
X-19626157-T-C	SH3KBP1	c.904A>G	p.Ile302Val	Missense	9/18	-
21-34060664-C-T	SYNJ1	c.920G>A	p.Arg307His	Missense	7/32	-
X-19701951-G-A	SH3KBP1	c.716C>T	p.Pro239Leu	Missense	6/18	-
X-19554057-G-A	SH3KBP1	c.*478C>T	-	3-UTRSNV	18/18	-
21-34015767-C-T	SYNJ1	c.3548G>A	p.Gly1183Asp	Missense	27/32	-
X-19554526-A-T	SH3KBP1	c.*9T>A	-	3-UTRSNV	18/18	-
11-85726013-T-C	PICALM	c.453-7A>G	-	IntronicSNV	-	4/19
21-34053961-T-A	SYNJ1	c.1318-3A>T	-	IntronicSNV	-	10/31
21-34099187-A-T	SYNJ1	c.137T>A	p.Phe46Tyr	Missense	2/32	-
21-34003991-G-A	SYNJ1	c.4153C>T	p.Pro1385Ser	Missense	32/32	-
11-85701387-A-G	PICALM	c.1314T>C	p.Pro438Pro	Synonymous	13/20	-
21-34042634-A-G	SYNJ1	c.1892T>C	p.Met631Thr	Missense	15/32	-
11-85701401-G-C	PICALM	c.1300C>G	p.Pro434Ala	Missense	13/20	-
11-85711721-G-A	PICALM	c.1119C>T	p.Ala373Ala	Synonymous	11/20	-
21-34029367-G-T	SYNJ1	c.2642C>A	p.Thr881Asn	Missense	20/32	-
21-34045679-G-A	SYNJ1	c.1814C>T	p.Pro605Leu	Missense	14/32	-
21-34018703-T-C	SYNJ1	c.3364A>G	p.Ser1122Gly	Missense	24/32	-
21-34025674-A-G	SYNJ1	c.2915T>C	p.Phe972Ser	Missense	22/32	-
21-34072408-A-G	SYNJ1	c.336T>C	p.Thr112Thr	Synonymous	4/32	-
21-34012039-C-T	SYNJ1	c.3756G>A	p.Arg1252Arg	Synonymous	30/32	-
X-19564048-T-C	SH3KBP1	c.1615A>G	p.Ile539Val	Missense	15/18	-
21-34067458-G-A	SYNJ1	c.731C>T	p.Ser244Leu	Missense	5/32	-
X-19587279-G-T	SH3KBP1	c.1326C>A	p.Ala442Ala	Synonymous	13/18	-
21-34056365-C-T	SYNJ1	c.1300G>A	p.Ala434Thr	Missense	10/32	-
11-85711745-T-G	PICALM	c.1095A>C	p.Ala365Ala	Synonymous	11/20	-
X-19560156-C-T	SH3KBP1	c.1779G>A	p.Thr593Thr	Synonymous	16/18	-
X-19713859-C-A	SH3KBP1	c.391G>T	p.Val131Leu	Missense	5/18	-
11-85694954-A-T	PICALM	c.1471T>A	p.Ser491Thr	Missense	14/20	-
11-85742630-T-C	PICALM	c.154A>G	p.Met52Val	Missense	2/20	-
X-19554520-T-G	SH3KBP1	c.*15A>C	-	3-UTRSNV	18/18	-
11-85692908-T-C	PICALM	c.1648+7A>G	-	IntronicSNV	-	15/19
21-34003618-T-A	SYNJ1	c.4526A>T	p.Gln1509Leu	Missense	32/32	-
11-85779799-G-A	PICALM	c.24C>T	p.Asp8Asp	Synonymous	1/20	-
21-34003541-A-T	SYNJ1	c.4603T>A	p.Ser1535Thr	Missense	32/32	-
21-34007199-G-A	SYNJ1	c.4033-3088C>T	-	IntronicSNV	-	31/31
21-34072284-G-A	SYNJ1	c.460C>T	p.Arg154Cys	Missense	4/32	-
11-85779715-C-T	PICALM	c.108G>A	p.Gly36Gly	Synonymous	1/20	-
21-34011387-G-C	SYNJ1	c.3863C>G	p.Pro1288Arg	Missense	31/32	-
X-19650067-T-C	SH3KBP1	c.812A>G	p.Tyr271Cys	Missense	8/18	-
X-19905619-T-G	SH3KBP1	c.1-191A>C	-	5-UTRSNV	1/18	-
21-34014236-T-A	SYNJ1	c.3675A>T	p.Pro1225Pro	Synonymous	29/32	-
11-85692916-G-A	PICALM	c.1647C>T	p.Gly549Gly	Synonymous	15/20	-
21-34002047-T-C	SYNJ1	c.*1258A>G	-	3-UTRSNV	32/32	-
X-19606907-T-C	SH3KBP1	c.1152A>G	p.Arg384Arg	Synonymous	12/18	-
21-34002054-T-C	SYNJ1	c.*1251A>G	-	3-UTRSNV	32/32	-
21-34029189-A-G	SYNJ1	c.2720T>C	p.Ile907Thr	Missense	21/32	-
11-85733412-T-C	PICALM	c.450A>G	p.Arg150Arg	Synonymous	4/20	-
21-34037358-G-A	SYNJ1	c.2286C>T	p.Asp762Asp	Synonymous	18/32	-
11-85669999-A-G	PICALM	c.*90T>C	-	3-UTRSNV	20/20	-
11-85779803-G-C	PICALM	c.20C>G	p.Thr7Arg	Missense	1/20	-
11-85701412-T-C	PICALM	c.1289A>G	p.Asp430Gly	Missense	13/20	-
21-34072192-C-A	SYNJ1	c.552G>T	p.Ala184Ala	Synonymous	4/32	-
21-34072192-C-T	SYNJ1	c.552G>A	p.Ala184Ala	Synonymous	4/32	-
21-34001205-A-G	SYNJ1	c.*2100T>C	-	3-UTRSNV	32/32	-
21-34037310-G-A	SYNJ1	c.2334C>T	p.Asn778Asn	Synonymous	18/32	-
X-19650052-A-T	SH3KBP1	c.827T>A	p.Phe276Tyr	Missense	8/18	-
X-19564042-G-C	SH3KBP1	c.1621C>G	p.Gln541Glu	Missense	15/18	-
21-34018016-G-T	SYNJ1	c.3448C>A	p.Pro1150Thr	Missense	25/32	-
11-85725966-G-A	PICALM	c.493C>T	p.Leu165Leu	Synonymous	5/20	-
21-34001263-A-T	SYNJ1	c.*2042T>A	-	3-UTRSNV	32/32	-
X-19725008-C-A	SH3KBP1	c.381G>T	p.Val127Val	Synonymous	4/18	-
X-19725008-C-T	SH3KBP1	c.381G>A	p.Val127Val	Synonymous	4/18	-
X-19560190-C-G	SH3KBP1	c.1745G>C	p.Gly582Ala	Missense	16/18	-
21-34072389-G-A	SYNJ1	c.355C>T	p.Leu119Leu	Synonymous	4/32	-
21-34003837-A-C	SYNJ1	c.4307T>G	p.Ile1436Ser	Missense	32/32	-
21-34018081-T-C	SYNJ1	c.3383A>G	p.Gln1128Arg	Missense	25/32	-
21-34002968-A-G	SYNJ1	c.*337T>C	-	3-UTRSNV	32/32	-
X-19555843-G-A	SH3KBP1	c.1948C>T	p.Arg650Trp	Missense	17/18	-
21-34048638-G-T	SYNJ1	c.1651+4C>A	-	IntronicSNV	-	13/31
11-85712187-G-T	PICALM	c.908C>A	p.Ser303Tyr	Missense	10/20	-
X-19553946-G-A	SH3KBP1	c.*589C>T	-	3-UTRSNV	18/18	-
21-34003662-T-C	SYNJ1	c.4482A>G	p.Ser1494Ser	Synonymous	32/32	-
21-34011322-T-C	SYNJ1	c.3928A>G	p.Met1310Val	Missense	31/32	-
21-34060658-C-T	SYNJ1	c.926G>A	p.Arg309His	Missense	7/32	-
21-34012056-G-A	SYNJ1	c.3739C>T	p.Pro1247Ser	Missense	30/32	-
11-85737357-A-G	PICALM	c.326T>C	p.Phe109Ser	Missense	3/20	-
11-85711805-T-C	PICALM	c.1035A>G	p.Glu345Glu	Synonymous	11/20	-
21-34003737-G-A	SYNJ1	c.4407C>T	p.Phe1469Phe	Synonymous	32/32	-
11-85714443-C-T	PICALM	c.859G>A	p.Gly287Arg	Missense	9/20	-
11-85712197-T-C	PICALM	c.898A>G	p.Thr300Ala	Missense	10/20	-
X-19701980-C-A	SH3KBP1	c.687G>T	p.Arg229Ser	Missense	6/18	-
21-34025635-C-T	SYNJ1	c.2954G>A	p.Ser985Asn	Missense	22/32	-
11-85707861-A-G	PICALM	c.1258+8T>C	-	IntronicSNV	-	12/19
11-85712138-C-T	PICALM	c.957G>A	p.Val319Val	Synonymous	10/20	-
X-19606862-C-T	SH3KBP1	c.1197G>A	p.Pro399Pro	Synonymous	12/18	-
21-34045820-C-G	SYNJ1	c.1673G>C	p.Ser558Thr	Missense	14/32	-
21-34003722-G-A	SYNJ1	c.4422C>T	p.Pro1474Pro	Synonymous	32/32	-
21-34029101-C-T	SYNJ1	c.2808G>A	p.Leu936Leu	Synonymous	21/32	-
21-34022594-T-C	SYNJ1	c.3054A>G	p.Glu1018Glu	Synonymous	23/32	-
X-19552469-G-A	SH3KBP1	c.*2066C>T	-	3-UTRSNV	18/18	-
X-19663526-C-T	SH3KBP1	c.794G>A	p.Arg265Lys	Missense	7/18	-
X-19560225-C-T	SH3KBP1	c.1710G>A	p.Ala570Ala	Synonymous	16/18	-
21-34072316-A-G	SYNJ1	c.428T>C	p.Ile143Thr	Missense	4/32	-
21-34042669-C-A	SYNJ1	c.1857G>T	p.Lys619Asn	Missense	15/32	-
11-85701412-T-A	PICALM	c.1289A>T	p.Asp430Val	Missense	13/20	-
X-19560249-C-G	SH3KBP1	c.1686G>C	p.Gly562Gly	Synonymous	16/18	-
21-34053813-T-C	SYNJ1	c.1463A>G	p.Lys488Arg	Missense	11/32	-
21-34012043-G-T	SYNJ1	c.3752C>A	p.Ala1251Glu	Missense	30/32	-
21-34002155-G-A	SYNJ1	c.*1150C>T	-	3-UTRSNV	32/32	-
21-34012043-G-C	SYNJ1	c.3752C>G	p.Ala1251Gly	Missense	30/32	-
21-34012043-G-A	SYNJ1	c.3752C>T	p.Ala1251Val	Missense	30/32	-
21-34004111-C-T	SYNJ1	c.4033G>A	p.Val1345Ile	Missense	32/32	-
X-19564032-T-G	SH3KBP1	c.1623+8A>C	-	IntronicSNV	-	15/17
21-34048673-T-C	SYNJ1	c.1628-8A>G	-	IntronicSNV	-	12/31
X-19854408-G-A	SH3KBP1	c.5-8C>T	-	IntronicSNV	-	1/17
11-85694987-G-A	PICALM	c.1438C>T	p.His480Tyr	Missense	14/20	-
X-19553216-G-A	SH3KBP1	c.*1319C>T	-	3-UTRSNV	18/18	-
X-19702077-T-C	SH3KBP1	c.590A>G	p.Asn197Ser	Missense	6/18	-
21-34030180-A-G	SYNJ1	c.2424T>C	p.Val808Val	Synonymous	19/32	-
11-85670046-G-A	PICALM	c.*43C>T	-	3-UTRSNV	20/20	-
21-34003383-G-C	SYNJ1	c.4761C>G	p.Pro1587Pro	Synonymous	32/32	-
21-34002744-T-G	SYNJ1	c.*561A>C	-	3-UTRSNV	32/32	-
21-34015723-C-T	SYNJ1	c.3592G>A	p.Glu1198Lys	Missense	27/32	-
21-34003383-G-T	SYNJ1	c.4761C>A	p.Pro1587Pro	Synonymous	32/32	-
21-34004007-T-C	SYNJ1	c.4137A>G	p.Leu1379Leu	Synonymous	32/32	-
11-85725937-C-T	PICALM	c.522G>A	p.Gln174Gln	Synonymous	5/20	-
21-34017293-T-C	SYNJ1	c.3532A>G	p.Arg1178Gly	Missense	26/32	-
21-34003996-G-A	SYNJ1	c.4148C>T	p.Thr1383Met	Missense	32/32	-
11-85701321-A-C	PICALM	c.1380T>G	p.Thr460Thr	Synonymous	13/20	-
X-19764496-C-G	SH3KBP1	c.226G>C	p.Glu76Gln	Missense	3/18	-
X-19725106-G-A	SH3KBP1	c.287-4C>T	-	IntronicSNV	-	3/17
21-34059372-T-C	SYNJ1	c.981A>G	p.Thr327Thr	Synonymous	8/32	-
X-19702102-T-C	SH3KBP1	c.565A>G	p.Ser189Gly	Missense	6/18	-
21-34003300-T-C	SYNJ1	c.*5A>G	-	3-UTRSNV	32/32	-
11-85723389-A-G	PICALM	c.593T>C	p.Met198Thr	Missense	6/20	-
X-19587271-G-A	SH3KBP1	c.1334C>T	p.Ser445Leu	Missense	13/18	-
21-34018024-G-A	SYNJ1	c.3440C>T	p.Pro1147Leu	Missense	25/32	-
21-34003903-G-A	SYNJ1	c.4241C>T	p.Thr1414Ile	Missense	32/32	-
11-85669982-G-T	PICALM	c.*107C>A	-	3-UTRSNV	20/20	-
21-34014422-G-A	SYNJ1	c.3617C>T	p.Thr1206Ile	Missense	28/32	-
21-34038342-C-T	SYNJ1	c.2173G>A	p.Val725Ile	Missense	17/32	-
11-85692796-G-A	PICALM	c.1671C>T	p.Thr557Thr	Synonymous	16/20	-
21-34003437-G-C	SYNJ1	c.4707C>G	p.Phe1569Leu	Missense	32/32	-
21-34003437-G-A	SYNJ1	c.4707C>T	p.Phe1569Phe	Synonymous	32/32	-
21-34048638-G-C	SYNJ1	c.1651+4C>G	-	IntronicSNV	-	13/31
21-34004016-C-G	SYNJ1	c.4128G>C	p.Lys1376Asn	Missense	32/32	-
11-85707912-T-G	PICALM	c.1215A>C	p.Val405Val	Synonymous	12/20	-
11-85707912-T-C	PICALM	c.1215A>G	p.Val405Val	Synonymous	12/20	-
11-85779709-C-G	PICALM	c.114G>C	p.Lys38Asn	Missense	1/20	-
21-34003300-T-A	SYNJ1	c.*5A>T	-	3-UTRSNV	32/32	-
21-34003387-G-A	SYNJ1	c.4757C>T	p.Pro1586Leu	Missense	32/32	-
21-34067359-A-G	SYNJ1	c.822+8T>C	-	IntronicSNV	-	5/31
11-85701447-G-C	PICALM	c.1259-5C>G	-	IntronicSNV	-	12/19
11-85669982-G-A	PICALM	c.*107C>T	-	3-UTRSNV	20/20	-
21-34003239-T-A	SYNJ1	c.*66A>T	-	3-UTRSNV	32/32	-
21-34014236-T-C	SYNJ1	c.3675A>G	p.Pro1225Pro	Synonymous	29/32	-
21-34099232-C-T	SYNJ1	c.96-4G>A	-	IntronicSNV	-	1/31
11-85692975-G-A	PICALM	c.1588C>T	p.Leu530Phe	Missense	15/20	-
21-34018049-C-T	SYNJ1	c.3415G>A	p.Ala1139Thr	Missense	25/32	-
21-34003377-G-A	SYNJ1	c.4767C>T	p.Thr1589Thr	Synonymous	32/32	-
21-34003502-T-C	SYNJ1	c.4642A>G	p.Ser1548Gly	Missense	32/32	-
11-85711703-G-A	PICALM	c.1137C>T	p.Thr379Thr	Synonymous	11/20	-
X-19650083-G-T	SH3KBP1	c.803-7C>A	-	IntronicSNV	-	7/17
X-19560216-G-A	SH3KBP1	c.1719C>T	p.Pro573Pro	Synonymous	16/18	-
X-19560216-G-T	SH3KBP1	c.1719C>A	p.Pro573Pro	Synonymous	16/18	-
X-19560216-G-C	SH3KBP1	c.1719C>G	p.Pro573Pro	Synonymous	16/18	-
21-34003929-A-AGTATTA	SYNJ1	c.4215_4216insAATACT	p.Val1405_leu1406insAsnthr	InFrameInsertion	32/32	-
11-85723411-C-A	PICALM	c.571G>T	p.Gly191Trp	Missense	6/20	-
21-34038255-T-A	SYNJ1	c.2260A>T	p.Met754Leu	Missense	17/32	-
21-34038255-T-C	SYNJ1	c.2260A>G	p.Met754Val	Missense	17/32	-
X-19564077-G-A	SH3KBP1	c.1586C>T	p.Ala529Val	Missense	15/18	-
X-19606876-C-T	SH3KBP1	c.1183G>A	p.Val395Ile	Missense	12/18	-
X-19606876-C-A	SH3KBP1	c.1183G>T	p.Val395Phe	Missense	12/18	-
X-19554051-C-G	SH3KBP1	c.*484G>C	-	3-UTRSNV	18/18	-
21-34072165-A-T	SYNJ1	c.579T>A	p.Thr193Thr	Synonymous	4/32	-
21-34003280-A-G	SYNJ1	c.*25T>C	-	3-UTRSNV	32/32	-
11-85742582-T-C	PICALM	c.202A>G	p.Thr68Ala	Missense	2/20	-
11-85687678-T-C	PICALM	c.1827A>G	p.Ile609Met	Missense	18/20	-
21-34011283-G-C	SYNJ1	c.3967C>G	p.Pro1323Ala	Missense	31/32	-
21-34012040-C-T	SYNJ1	c.3755G>A	p.Arg1252Gln	Missense	30/32	-
11-85722113-G-C	PICALM	c.725C>G	p.Thr242Ser	Missense	7/20	-
14-73664808-A-C	PSEN1	c.839A>C	p.Glu280Ala	Missense	8/12	-
X-19560228-C-G	SH3KBP1	c.1707G>C	p.Ala569Ala	Synonymous	16/18	-
21-34001874-T-C	SYNJ1	c.*1431A>G	-	3-UTRSNV	32/32	-
X-19560255-G-A	SH3KBP1	c.1680C>T	p.Gly560Gly	Synonymous	16/18	-
21-34029425-C-A	SYNJ1	c.2584G>T	p.Asp862Tyr	Missense	20/32	-
11-85733511-T-C	PICALM	c.351A>G	p.Gly117Gly	Synonymous	4/20	-
X-19564078-C-G	SH3KBP1	c.1585G>C	p.Ala529Pro	Missense	15/18	-
21-34001853-G-A	SYNJ1	c.*1452C>T	-	3-UTRSNV	32/32	-
11-85779871-G-A	PICALM	c.1-49C>T	-	5-UTRSNV	1/20	-
21-34003660-G-A	SYNJ1	c.4484C>T	p.Ser1495Phe	Missense	32/32	-
11-85695008-G-A	PICALM	c.1417C>T	p.Pro473Ser	Missense	14/20	-
11-85742582-T-A	PICALM	c.202A>T	p.Thr68Ser	Missense	2/20	-
X-19555848-C-T	SH3KBP1	c.1943G>A	p.Arg648Gln	Missense	17/18	-
21-34003594-G-C	SYNJ1	c.4550C>G	p.Pro1517Arg	Missense	32/32	-
21-34003594-G-A	SYNJ1	c.4550C>T	p.Pro1517Leu	Missense	32/32	-
X-19554160-A-G	SH3KBP1	c.*375T>C	-	3-UTRSNV	18/18	-
21-34003833-A-G	SYNJ1	c.4311T>C	p.Thr1437Thr	Synonymous	32/32	-
11-85723424-A-T	PICALM	c.558T>A	p.Asn186Lys	Missense	6/20	-
21-34099124-T-G	SYNJ1	c.200A>C	p.Glu67Ala	Missense	2/32	-
X-19606784-C-T	SH3KBP1	c.1275G>A	p.Pro425Pro	Synonymous	12/18	-
21-34099108-G-A	SYNJ1	c.216C>T	p.Phe72Phe	Synonymous	2/32	-
21-34025623-T-A	SYNJ1	c.2966A>T	p.Asn989Ile	Missense	22/32	-
21-34018827-G-A	SYNJ1	c.3240C>T	p.Ser1080Ser	Synonymous	24/32	-
X-19564079-G-A	SH3KBP1	c.1584C>T	p.Asp528Asp	Synonymous	15/18	-
11-85692977-T-A	PICALM	c.1586A>T	p.Lys529Ile	Missense	15/20	-
X-19724992-C-G	SH3KBP1	c.390+7G>C	-	IntronicSNV	-	4/17
11-85670067-A-C	PICALM	c.*22T>G	-	3-UTRSNV	20/20	-
21-34017979-G-C	SYNJ1	c.3485C>G	p.Pro1162Arg	Missense	25/32	-
21-34038870-T-G	SYNJ1	c.1942A>C	p.Lys648Gln	Missense	16/32	-
21-34038781-C-T	SYNJ1	c.2031G>A	p.Leu677Leu	Synonymous	16/32	-
X-19564127-G-C	SH3KBP1	c.1536C>G	p.Pro512Pro	Synonymous	15/18	-
X-19560065-C-G	SH3KBP1	c.1870G>C	p.Glu624Gln	Missense	16/18	-
21-34072220-C-A	SYNJ1	c.524G>T	p.Gly175Val	Missense	4/32	-
21-34004105-T-C	SYNJ1	c.4039A>G	p.Thr1347Ala	Missense	32/32	-
21-34003073-G-T	SYNJ1	c.*232C>A	-	3-UTRSNV	32/32	-
21-34017988-G-A	SYNJ1	c.3476C>T	p.Pro1159Leu	Missense	25/32	-
21-34029307-T-G	SYNJ1	c.2696+6A>C	-	IntronicSNV	-	20/31
11-85692977-T-C	PICALM	c.1586A>G	p.Lys529Arg	Missense	15/20	-
11-85669914-C-T	PICALM	c.*175G>A	-	3-UTRSNV	20/20	-
11-85737414-A-C	PICALM	c.274-5T>G	-	IntronicSNV	-	2/19
11-85701437-A-G	PICALM	c.1264T>C	p.Phe422Leu	Missense	13/20	-
11-85701437-A-C	PICALM	c.1264T>G	p.Phe422Val	Missense	13/20	-
X-19564076-C-T	SH3KBP1	c.1587G>A	p.Ala529Ala	Synonymous	15/18	-
21-34003365-T-C	SYNJ1	c.4779A>G	p.Val1593Val	Synonymous	32/32	-
11-85779761-G-A	PICALM	c.62C>T	p.Ala21Val	Missense	1/20	-
X-19564127-G-A	SH3KBP1	c.1536C>T	p.Pro512Pro	Synonymous	15/18	-
X-19560065-C-T	SH3KBP1	c.1870G>A	p.Glu624Lys	Missense	16/18	-
21-34072220-C-T	SYNJ1	c.524G>A	p.Gly175Asp	Missense	4/32	-
11-85718579-A-G	PICALM	c.807+6T>C	-	IntronicSNV	-	8/19
21-34004010-C-A	SYNJ1	c.4134G>T	p.Gln1378His	Missense	32/32	-
X-19568197-T-C	SH3KBP1	c.1389A>G	p.Leu463Leu	Synonymous	14/18	-
X-19817754-T-C	SH3KBP1	c.162+36489A>G	-	IntronicSNV	-	2/17
X-19568150-G-A	SH3KBP1	c.1436C>T	p.Pro479Leu	Missense	14/18	-
X-19560223-G-A	SH3KBP1	c.1712C>T	p.Pro571Leu	Missense	16/18	-
21-34017988-G-T	SYNJ1	c.3476C>A	p.Pro1159Gln	Missense	25/32	-
21-34001515-G-T	SYNJ1	c.*1790C>A	-	3-UTRSNV	32/32	-
11-85669875-T-C	PICALM	c.*214A>G	-	3-UTRSNV	20/20	-
X-19649995-G-C	SH3KBP1	c.884C>G	p.Thr295Ser	Missense	8/18	-
21-34058099-T-G	SYNJ1	c.1194A>C	p.Leu398Leu	Synonymous	9/32	-
11-85714439-T-C	PICALM	c.863A>G	p.Lys288Arg	Missense	9/20	-
21-34060633-A-G	SYNJ1	c.951T>C	p.Asn317Asn	Synonymous	7/32	-
11-85707896-C-G	PICALM	c.1231G>C	p.Ala411Pro	Missense	12/20	-
21-34012045-G-A	SYNJ1	c.3750C>T	p.His1250His	Synonymous	30/32	-
21-34011411-A-G	SYNJ1	c.3839T>C	p.Leu1280Pro	Missense	31/32	-
21-34051056-C-G	SYNJ1	c.1526G>C	p.Ser509Thr	Missense	12/32	-
21-34001548-T-C	SYNJ1	c.*1757A>G	-	3-UTRSNV	32/32	-
21-34014248-T-A	SYNJ1	c.3663A>T	p.Gly1221Gly	Synonymous	29/32	-
21-34014248-T-C	SYNJ1	c.3663A>G	p.Gly1221Gly	Synonymous	29/32	-
21-34002212-G-C	SYNJ1	c.*1093C>G	-	3-UTRSNV	32/32	-
11-85711757-T-C	PICALM	c.1083A>G	p.Val361Val	Synonymous	11/20	-
11-85723411-C-G	PICALM	c.571G>C	p.Gly191Arg	Missense	6/20	-
11-85687682-A-G	PICALM	c.1823T>C	p.Met608Thr	Missense	18/20	-
21-34029163-C-T	SYNJ1	c.2746G>A	p.Glu916Lys	Missense	21/32	-
11-85779870-T-A	PICALM	c.1-48A>T	-	5-UTRSNV	1/20	-
21-34003931-C-T	SYNJ1	c.4213G>A	p.Val1405Ile	Missense	32/32	-
21-34018890-A-T	SYNJ1	c.3177T>A	p.Ala1059Ala	Synonymous	24/32	-
21-34053840-T-C	SYNJ1	c.1436A>G	p.Tyr479Cys	Missense	11/32	-
21-34022656-A-C	SYNJ1	c.2992T>G	p.Leu998Val	Missense	23/32	-
21-34100297-C-T	SYNJ1	c.55G>A	p.Gly19Ser	Missense	1/32	-
21-34003880-T-G	SYNJ1	c.4264A>C	p.Ser1422Arg	Missense	32/32	-
21-34011430-T-A	SYNJ1	c.3820A>T	p.Thr1274Ser	Missense	31/32	-
21-34011430-T-C	SYNJ1	c.3820A>G	p.Thr1274Ala	Missense	31/32	-
11-85711815-C-A	PICALM	c.1025G>T	p.Arg342Leu	Missense	11/20	-
21-34003348-A-G	SYNJ1	c.4796T>C	p.Leu1599Ser	Missense	32/32	-
21-34011221-C-A	SYNJ1	c.4029G>T	p.Pro1343Pro	Synonymous	31/32	-
X-19553368-C-T	SH3KBP1	c.*1167G>A	-	3-UTRSNV	18/18	-
21-34003348-A-C	SYNJ1	c.4796T>G	p.Leu1599Trp	Missense	32/32	-
21-34058131-T-C	SYNJ1	c.1162A>G	p.Ser388Gly	Missense	9/32	-
11-85701379-G-A	PICALM	c.1322C>T	p.Thr441Ile	Missense	13/20	-
X-19568096-G-A	SH3KBP1	c.1490C>T	p.Thr497Ile	Missense	14/18	-
21-34072301-T-C	SYNJ1	c.443A>G	p.Asp148Gly	Missense	4/32	-
21-34072157-C-T	SYNJ1	c.587G>A	p.Arg196Lys	Missense	4/32	-
21-34067555-C-T	SYNJ1	c.634G>A	p.Val212Met	Missense	5/32	-
21-34038348-A-C	SYNJ1	c.2167T>G	p.Cys723Gly	Missense	17/32	-
21-34059326-A-G	SYNJ1	c.1027T>C	p.Ser343Pro	Missense	8/32	-
21-34030114-G-A	SYNJ1	c.2490C>T	p.Asp830Asp	Synonymous	19/32	-
11-85723425-T-C	PICALM	c.557A>G	p.Asn186Ser	Missense	6/20	-
21-34059331-A-T	SYNJ1	c.1022T>A	p.Leu341His	Missense	8/32	-
11-85701330-A-G	PICALM	c.1371T>C	p.Thr457Thr	Synonymous	13/20	-
21-34072222-A-G	SYNJ1	c.522T>C	p.Ser174Ser	Synonymous	4/32	-
X-19553163-C-T	SH3KBP1	c.*1372G>A	-	3-UTRSNV	18/18	-
21-34072222-A-T	SYNJ1	c.522T>A	p.Ser174Ser	Synonymous	4/32	-
11-85694994-T-G	PICALM	c.1431A>C	p.Ala477Ala	Synonymous	14/20	-
21-34017305-G-A	SYNJ1	c.3520C>T	p.Pro1174Ser	Missense	26/32	-
21-34072307-C-T	SYNJ1	c.437G>A	p.Arg146Gln	Missense	4/32	-
21-34038317-T-C	SYNJ1	c.2198A>G	p.Gln733Arg	Missense	17/32	-
21-34018735-G-T	SYNJ1	c.3332C>A	p.Pro1111Gln	Missense	24/32	-
11-85712153-T-C	PICALM	c.942A>G	p.Leu314Leu	Synonymous	10/20	-
11-85712153-T-A	PICALM	c.942A>T	p.Leu314Leu	Synonymous	10/20	-
11-85692249-C-T	PICALM	c.1702G>A	p.Gly568Ser	Missense	17/20	-
11-85711816-G-A	PICALM	c.1024C>T	p.Arg342Cys	Missense	11/20	-
21-34100265-C-G	SYNJ1	c.87G>C	p.Arg29Arg	Synonymous	1/32	-
21-34014252-G-C	SYNJ1	c.3659C>G	p.Ala1220Gly	Missense	29/32	-
21-34003646-A-G	SYNJ1	c.4498T>C	p.Phe1500Leu	Missense	32/32	-
X-19554486-T-G	SH3KBP1	c.*49A>C	-	3-UTRSNV	18/18	-
11-85692966-T-A	PICALM	c.1597A>T	p.Ser533Cys	Missense	15/20	-
21-34022539-G-A	SYNJ1	c.3109C>T	p.Leu1037Leu	Synonymous	23/32	-
21-34003630-T-A	SYNJ1	c.4514A>T	p.Asp1505Val	Missense	32/32	-
21-34003541-A-C	SYNJ1	c.4603T>G	p.Ser1535Ala	Missense	32/32	-
21-34003881-C-G	SYNJ1	c.4263G>C	p.Arg1421Arg	Synonymous	32/32	-
21-34003881-C-T	SYNJ1	c.4263G>A	p.Arg1421Arg	Synonymous	32/32	-
21-34100272-C-T	SYNJ1	c.80G>A	p.Arg27Lys	Missense	1/32	-
21-34002380-G-T	SYNJ1	c.*925C>A	-	3-UTRSNV	32/32	-
11-85692210-T-C	PICALM	c.1741A>G	p.Lys581Glu	Missense	17/20	-
11-85692210-T-G	PICALM	c.1741A>C	p.Lys581Gln	Missense	17/20	-
21-34100265-C-T	SYNJ1	c.87G>A	p.Arg29Arg	Synonymous	1/32	-
21-34066580-G-A	SYNJ1	c.864C>T	p.Ile288Ile	Synonymous	6/32	-
21-34003314-T-C	SYNJ1	c.4830A>G	p.Thr1610Thr	Synonymous	32/32	-
X-19626124-C-T	SH3KBP1	c.937G>A	p.Gly313Ser	Missense	9/18	-
X-19554515-A-G	SH3KBP1	c.*20T>C	-	3-UTRSNV	18/18	-
11-85779865-G-A	PICALM	c.1-43C>T	-	5-UTRSNV	1/20	-
21-34038809-G-A	SYNJ1	c.2003C>T	p.Ala668Val	Missense	16/32	-
21-34038887-C-T	SYNJ1	c.1929-4G>A	-	IntronicSNV	-	15/31
11-85693015-T-C	PICALM	c.1548A>G	p.Pro516Pro	Synonymous	15/20	-
21-34050962-A-G	SYNJ1	c.1620T>C	p.Ser540Ser	Synonymous	12/32	-
11-85707932-G-A	PICALM	c.1195C>T	p.Pro399Ser	Missense	12/20	-
21-34038808-A-G	SYNJ1	c.2004T>C	p.Ala668Ala	Synonymous	16/32	-
11-85725944-T-C	PICALM	c.515A>G	p.Gln172Arg	Missense	5/20	-
11-85723397-A-G	PICALM	c.585T>C	p.Ala195Ala	Synonymous	6/20	-
11-85687692-G-A	PICALM	c.1813C>T	p.Pro605Ser	Missense	18/20	-
21-34003892-T-C	SYNJ1	c.4252A>G	p.Ile1418Val	Missense	32/32	-
X-19560157-G-A	SH3KBP1	c.1778C>T	p.Thr593Met	Missense	16/18	-
X-19701998-T-C	SH3KBP1	c.669A>G	p.Pro223Pro	Synonymous	6/18	-
21-34053817-C-T	SYNJ1	c.1459G>A	p.Gly487Arg	Missense	11/32	-
11-85712114-T-A	PICALM	c.981A>T	p.Ala327Ala	Synonymous	10/20	-
11-85695016-C-G	PICALM	c.1409G>C	p.Gly470Ala	Missense	14/20	-
21-34100293-C-T	SYNJ1	c.59G>A	p.Gly20Asp	Missense	1/32	-
11-85779721-G-C	PICALM	c.102C>G	p.Ile34Met	Missense	1/20	-
11-85692964-G-C	PICALM	c.1599C>G	p.Ser533Arg	Missense	15/20	-
21-34004018-T-C	SYNJ1	c.4126A>G	p.Lys1376Glu	Missense	32/32	-
21-34029072-T-C	SYNJ1	c.2837A>G	p.Asn946Ser	Missense	21/32	-
21-34067471-C-T	SYNJ1	c.718G>A	p.Ala240Thr	Missense	5/32	-
X-19553052-G-C	SH3KBP1	c.*1483C>G	-	3-UTRSNV	18/18	-
21-34029348-G-A	SYNJ1	c.2661C>T	p.His887His	Synonymous	20/32	-
21-34002383-C-T	SYNJ1	c.*922G>A	-	3-UTRSNV	32/32	-
11-85725906-A-C	PICALM	c.546+7T>G	-	IntronicSNV	-	5/19
X-19568098-G-A	SH3KBP1	c.1488C>T	p.Leu496Leu	Synonymous	14/18	-
11-85669999-A-C	PICALM	c.*90T>G	-	3-UTRSNV	20/20	-
X-19568199-A-T	SH3KBP1	c.1387T>A	p.Leu463Ile	Missense	14/18	-
21-34011306-G-A	SYNJ1	c.3944C>T	p.Pro1315Leu	Missense	31/32	-
21-34003786-C-T	SYNJ1	c.4358G>A	p.Gly1453Glu	Missense	32/32	-
21-34099076-G-A	SYNJ1	c.241+7C>T	-	IntronicSNV	-	2/31
21-34067471-C-G	SYNJ1	c.718G>C	p.Ala240Pro	Missense	5/32	-
21-34003928-A-AGTATTA	SYNJ1	c.4216_4217insAATACT	p.Leu1406*fs*1	Nonsense	32/32	-
X-19553052-G-A	SH3KBP1	c.*1483C>T	-	3-UTRSNV	18/18	-
11-85779796-T-C	PICALM	c.27A>G	p.Arg9Arg	Synonymous	1/20	-
21-34038308-A-G	SYNJ1	c.2207T>C	p.Val736Ala	Missense	17/32	-
11-85779921-C-A	PICALM	c.1-99G>T	-	5-UTRSNV	1/20	-
21-34030084-G-A	SYNJ1	c.2520C>T	p.Thr840Thr	Synonymous	19/32	-
21-34011380-A-C	SYNJ1	c.3870T>G	p.Ser1290Ser	Synonymous	31/32	-
21-34059354-A-G	SYNJ1	c.999T>C	p.Gly333Gly	Synonymous	8/32	-
21-34038254-A-T	SYNJ1	c.2261T>A	p.Met754Lys	Missense	17/32	-
21-34001748-T-C	SYNJ1	c.*1557A>G	-	3-UTRSNV	32/32	-
X-19568199-A-G	SH3KBP1	c.1387T>C	p.Leu463Leu	Synonymous	14/18	-
11-85737377-C-T	PICALM	c.306G>A	p.Thr102Thr	Synonymous	3/20	-
11-85711800-G-T	PICALM	c.1040C>A	p.Ala347Glu	Missense	11/20	-
11-85711772-A-G	PICALM	c.1068T>C	p.Thr356Thr	Synonymous	11/20	-
21-34060659-G-A	SYNJ1	c.925C>T	p.Arg309Cys	Missense	7/32	-
21-34029394-T-C	SYNJ1	c.2615A>G	p.Asp872Gly	Missense	20/32	-
21-34072368-C-A	SYNJ1	c.376G>T	p.Val126Phe	Missense	4/32	-
11-85733446-C-T	PICALM	c.416G>A	p.Arg139Lys	Missense	4/20	-
21-34018756-G-C	SYNJ1	c.3311C>G	p.Pro1104Arg	Missense	24/32	-
X-19606801-T-C	SH3KBP1	c.1258A>G	p.Arg420Gly	Missense	12/18	-
21-34045780-T-C	SYNJ1	c.1713A>G	p.Lys571Lys	Synonymous	14/32	-
21-34018756-G-T	SYNJ1	c.3311C>A	p.Pro1104His	Missense	24/32	-
21-34018756-G-A	SYNJ1	c.3311C>T	p.Pro1104Leu	Missense	24/32	-
11-85711725-G-A	PICALM	c.1115C>T	p.Pro372Leu	Missense	11/20	-
21-34011249-C-T	SYNJ1	c.4001G>A	p.Ser1334Asn	Missense	31/32	-
21-34017948-G-A	SYNJ1	c.3508+8C>T	-	IntronicSNV	-	25/31
X-19725047-G-A	SH3KBP1	c.342C>T	p.Asp114Asp	Synonymous	4/18	-
11-85723343-T-C	PICALM	c.639A>G	p.Glu213Glu	Synonymous	6/20	-
21-34099144-T-G	SYNJ1	c.180A>C	p.Ile60Ile	Synonymous	2/32	-
11-85726013-T-A	PICALM	c.453-7A>T	-	IntronicSNV	-	4/19
21-34099144-T-C	SYNJ1	c.180A>G	p.Ile60Met	Missense	2/32	-
X-19626131-C-T	SH3KBP1	c.930G>A	p.Glu310Glu	Synonymous	9/18	-
X-19560248-G-A	SH3KBP1	c.1687C>T	p.Pro563Ser	Missense	16/18	-
21-34066568-A-C	SYNJ1	c.876T>G	p.Val292Val	Synonymous	6/32	-
21-34053910-A-G	SYNJ1	c.1366T>C	p.Leu456Leu	Synonymous	11/32	-
21-34011994-T-C	SYNJ1	c.3801A>G	p.Ser1267Ser	Synonymous	30/32	-
X-19649997-G-A	SH3KBP1	c.882C>T	p.Val294Val	Synonymous	8/18	-
21-34003489-C-T	SYNJ1	c.4655G>A	p.Gly1552Asp	Missense	32/32	-
X-19554295-T-G	SH3KBP1	c.*240A>C	-	3-UTRSNV	18/18	-
21-34002367-C-T	SYNJ1	c.*938G>A	-	3-UTRSNV	32/32	-
11-85779707-T-C	PICALM	c.116A>G	p.Lys39Arg	Missense	1/20	-
21-34030088-C-T	SYNJ1	c.2516G>A	p.Arg839His	Missense	19/32	-
21-34072234-T-C	SYNJ1	c.510A>G	p.Ala170Ala	Synonymous	4/32	-
21-34003806-A-C	SYNJ1	c.4338T>G	p.Ser1446Arg	Missense	32/32	-
21-34072268-C-T	SYNJ1	c.476G>A	p.Arg159Gln	Missense	4/32	-
11-85711817-C-A	PICALM	c.1023G>T	p.Gln341His	Missense	11/20	-
21-34038353-C-T	SYNJ1	c.2162G>A	p.Ser721Asn	Missense	17/32	-
21-34072172-T-C	SYNJ1	c.572A>G	p.Gln191Arg	Missense	4/32	-
11-85733439-A-C	PICALM	c.423T>G	p.Val141Val	Synonymous	4/20	-
X-19560110-C-T	SH3KBP1	c.1825G>A	p.Val609Met	Missense	16/18	-
21-34011363-G-T	SYNJ1	c.3887C>A	p.Ala1296Asp	Missense	31/32	-
11-85722174-A-G	PICALM	c.664T>C	p.Tyr222His	Missense	7/20	-
X-19626151-C-T	SH3KBP1	c.910G>A	p.Val304Ile	Missense	9/18	-
21-34018870-G-A	SYNJ1	c.3197C>T	p.Pro1066Leu	Missense	24/32	-
21-34072374-T-A	SYNJ1	c.370A>T	p.Met124Leu	Missense	4/32	-
X-19552337-T-C	SH3KBP1	c.*2198A>G	-	3-UTRSNV	18/18	-
11-85687692-G-C	PICALM	c.1813C>G	p.Pro605Ala	Missense	18/20	-
21-34003941-C-T	SYNJ1	c.4203G>A	p.Thr1401Thr	Synonymous	32/32	-
21-34017977-G-C	SYNJ1	c.3487C>G	p.Gln1163Glu	Missense	25/32	-
21-34003539-T-G	SYNJ1	c.4605A>C	p.Ser1535Ser	Synonymous	32/32	-
21-34100254-C-A	SYNJ1	c.95+3G>T	-	IntronicSNV	-	1/31
11-85694992-T-C	PICALM	c.1433A>G	p.Gln478Arg	Missense	14/20	-
21-34058051-G-A	SYNJ1	c.1235+7C>T	-	IntronicSNV	-	9/31
11-85779833-C-A	PICALM	c.1-11G>T	-	5-UTRSNV	1/20	-
X-19702124-G-A	SH3KBP1	c.543C>T	p.Ser181Ser	Synonymous	6/18	-
21-34022518-C-T	SYNJ1	c.3130G>A	p.Val1044Ile	Missense	23/32	-
21-34002586-A-G	SYNJ1	c.*719T>C	-	3-UTRSNV	32/32	-
21-34066629-A-G	SYNJ1	c.823-8T>C	-	IntronicSNV	-	5/31
21-34074307-C-T	SYNJ1	c.292G>A	p.Ala98Thr	Missense	3/32	-
X-19613113-G-A	SH3KBP1	c.1011C>T	p.Pro337Pro	Synonymous	10/18	-
X-19613085-C-T	SH3KBP1	c.1039G>A	p.Val347Ile	Missense	10/18	-
21-34074289-C-T	SYNJ1	c.310G>A	p.Val104Ile	Missense	3/32	-
21-34011391-G-A	SYNJ1	c.3859C>T	p.Pro1287Ser	Missense	31/32	-
21-34018778-C-T	SYNJ1	c.3289G>A	p.Glu1097Lys	Missense	24/32	-
21-34051101-C-T	SYNJ1	c.1481G>A	p.Gly494Asp	Missense	12/32	-
11-85670019-T-C	PICALM	c.*70A>G	-	3-UTRSNV	20/20	-
11-85701370-C-G	PICALM	c.1331G>C	p.Ser444Thr	Missense	13/20	-
X-19568182-G-A	SH3KBP1	c.1404C>T	p.Ser468Ser	Synonymous	14/18	-
X-19553160-C-T	SH3KBP1	c.*1375G>A	-	3-UTRSNV	18/18	-
21-34011257-T-A	SYNJ1	c.3993A>T	p.Ser1331Ser	Synonymous	31/32	-
X-19854362-C-T	SH3KBP1	c.43G>A	p.Asp15Asn	Missense	2/18	-
11-85707902-A-T	PICALM	c.1225T>A	p.Ser409Thr	Missense	12/20	-
11-85687703-G-C	PICALM	c.1802C>G	p.Pro601Arg	Missense	18/20	-
11-85737379-T-C	PICALM	c.304A>G	p.Thr102Ala	Missense	3/20	-
21-34003926-C-CG	SYNJ1	c.4217_4218insC	p.Leu1406Phefs*42	Frameshift	32/32	-
11-85718629-G-A	PICALM	c.766-3C>T	-	IntronicSNV	-	7/19
21-34030155-C-T	SYNJ1	c.2449G>A	p.Val817Ile	Missense	19/32	-
21-34059320-C-G	SYNJ1	c.1033G>C	p.Glu345Gln	Missense	8/32	-
21-34037356-T-C	SYNJ1	c.2288A>G	p.Tyr763Cys	Missense	18/32	-
21-34011286-G-C	SYNJ1	c.3964C>G	p.Pro1322Ala	Missense	31/32	-
11-85692807-C-T	PICALM	c.1660G>A	p.Gly554Arg	Missense	16/20	-
21-34022534-A-G	SYNJ1	c.3114T>C	p.Leu1038Leu	Synonymous	23/32	-
21-34037355-A-G	SYNJ1	c.2289T>C	p.Tyr763Tyr	Synonymous	18/32	-
11-85692255-G-C	PICALM	c.1696C>G	p.Gln566Glu	Missense	17/20	-
11-85687673-T-C	PICALM	c.1832A>G	p.Tyr611Cys	Missense	18/20	-
21-34056366-C-T	SYNJ1	c.1299G>A	p.Gln433Gln	Synonymous	10/32	-
X-19564121-C-A	SH3KBP1	c.1542G>T	p.Glu514Asp	Missense	15/18	-
21-34030090-G-A	SYNJ1	c.2514C>T	p.Cys838Cys	Synonymous	19/32	-
21-34018726-G-A	SYNJ1	c.3341C>T	p.Thr1114Ile	Missense	24/32	-
X-19564164-G-A	SH3KBP1	c.1499C>T	p.Ser500Phe	Missense	15/18	-
X-19552814-G-T	SH3KBP1	c.*1721C>A	-	3-UTRSNV	18/18	-
21-34045787-G-A	SYNJ1	c.1706C>T	p.Pro569Leu	Missense	14/32	-
X-19552814-G-A	SH3KBP1	c.*1721C>T	-	3-UTRSNV	18/18	-
21-34015758-G-A	SYNJ1	c.3557C>T	p.Ala1186Val	Missense	27/32	-
X-19764562-G-A	SH3KBP1	c.163-3C>T	-	IntronicSNV	-	2/17
21-34001776-G-C	SYNJ1	c.*1529C>G	-	3-UTRSNV	32/32	-
21-34014282-A-AA	SYNJ1	c.3635-5_3635-5dup	-	IntronicInsertion	-	28/31
21-34011314-C-A	SYNJ1	c.3936G>T	p.Gln1312His	Missense	31/32	-
11-85711830-G-A	PICALM	c.1018-8C>T	-	IntronicSNV	-	10/19
21-34003497-T-C	SYNJ1	c.4647A>G	p.Ser1549Ser	Synonymous	32/32	-
X-19555847-C-G	SH3KBP1	c.1944G>C	p.Arg648Arg	Synonymous	17/18	-
21-34014213-G-C	SYNJ1	c.3698C>G	p.Ala1233Gly	Missense	29/32	-
X-19560085-C-T	SH3KBP1	c.1850G>A	p.Arg617His	Missense	16/18	-
21-34029200-G-A	SYNJ1	c.2709C>T	p.Ala903Ala	Synonymous	21/32	-
21-34004058-G-A	SYNJ1	c.4086C>T	p.Asp1362Asp	Synonymous	32/32	-
21-34037225-G-C	SYNJ1	c.2419C>G	p.Gln807Glu	Missense	18/32	-
11-85779766-G-A	PICALM	c.57C>T	p.Gly19Gly	Synonymous	1/20	-
11-85779766-G-C	PICALM	c.57C>G	p.Gly19Gly	Synonymous	1/20	-
X-19554018-A-G	SH3KBP1	c.*517T>C	-	3-UTRSNV	18/18	-
21-34003414-G-T	SYNJ1	c.4730C>A	p.Pro1577His	Missense	32/32	-
21-34014238-G-C	SYNJ1	c.3673C>G	p.Pro1225Ala	Missense	29/32	-
21-34014238-G-A	SYNJ1	c.3673C>T	p.Pro1225Ser	Missense	29/32	-
X-19553318-C-A	SH3KBP1	c.*1217G>T	-	3-UTRSNV	18/18	-
11-85701332-T-C	PICALM	c.1369A>G	p.Thr457Ala	Missense	13/20	-
21-34045822-C-G	SYNJ1	c.1671G>C	p.Lys557Asn	Missense	14/32	-
21-34099211-C-G	SYNJ1	c.113G>C	p.Arg38Thr	Missense	2/32	-
X-19764515-A-G	SH3KBP1	c.207T>C	p.Ala69Ala	Synonymous	3/18	-
21-34003289-T-C	SYNJ1	c.*16A>G	-	3-UTRSNV	32/32	-
11-85723394-G-A	PICALM	c.588C>T	p.Ala196Ala	Synonymous	6/20	-
11-85723394-G-C	PICALM	c.588C>G	p.Ala196Ala	Synonymous	6/20	-
21-34038439-A-C	SYNJ1	c.2076T>G	p.Val692Val	Synonymous	17/32	-
21-34022551-T-C	SYNJ1	c.3097A>G	p.Thr1033Ala	Missense	23/32	-
11-85701403-A-G	PICALM	c.1298T>C	p.Ile433Thr	Missense	13/20	-
21-34038789-C-T	SYNJ1	c.2023G>A	p.Val675Ile	Missense	16/32	-
21-34011390-G-C	SYNJ1	c.3860C>G	p.Pro1287Arg	Missense	31/32	-
14-73653604-T-C	PSEN1	c.524T>C	p.Phe175Ser	Missense	6/12	-
X-19553318-C-T	SH3KBP1	c.*1217G>A	-	3-UTRSNV	18/18	-
21-34029423-A-T	SYNJ1	c.2586T>A	p.Asp862Glu	Missense	20/32	-
X-19560115-G-A	SH3KBP1	c.1820C>T	p.Ala607Val	Missense	16/18	-
X-19606794-G-A	SH3KBP1	c.1265C>T	p.Pro422Leu	Missense	12/18	-
21-34029029-C-G	SYNJ1	c.2880G>C	p.Gln960His	Missense	21/32	-
21-34003504-G-A	SYNJ1	c.4640C>T	p.Pro1547Leu	Missense	32/32	-
21-34038338-C-A	SYNJ1	c.2177G>T	p.Cys726Phe	Missense	17/32	-
X-19552538-C-T	SH3KBP1	c.*1997G>A	-	3-UTRSNV	18/18	-
X-19560202-A-C	SH3KBP1	c.1733T>G	p.Leu578Trp	Missense	16/18	-
21-34014408-T-C	SYNJ1	c.3631A>G	p.Ile1211Val	Missense	28/32	-
21-34011412-G-A	SYNJ1	c.3838C>T	p.Leu1280Leu	Synonymous	31/32	-
21-34011373-G-A	SYNJ1	c.3877C>T	p.Pro1293Ser	Missense	31/32	-
21-34072293-C-T	SYNJ1	c.451G>A	p.Asp151Asn	Missense	4/32	-
21-34072293-C-A	SYNJ1	c.451G>T	p.Asp151Tyr	Missense	4/32	-
21-34011989-G-A	SYNJ1	c.3806C>T	p.Thr1269Met	Missense	30/32	-
21-34002226-G-T	SYNJ1	c.*1079C>A	-	3-UTRSNV	32/32	-
14-73653589-C-T	PSEN1	c.509C>T	p.Ser170Phe	Missense	6/12	-
14-73664760-C-T	PSEN1	c.791C>T	p.Pro264Leu	Missense	8/12	-
11-85742641-C-T	PICALM	c.143G>A	p.Cys48Tyr	Missense	2/20	-
11-85742648-T-C	PICALM	c.136A>G	p.Ile46Val	Missense	2/20	-
X-19552278-C-G	SH3KBP1	c.*2257G>C	-	3-UTRSNV	18/18	-
X-19552278-C-T	SH3KBP1	c.*2257G>A	-	3-UTRSNV	18/18	-
21-34099166-T-C	SYNJ1	c.158A>G	p.Asp53Gly	Missense	2/32	-
21-34003614-A-G	SYNJ1	c.4530T>C	p.Ser1510Ser	Synonymous	32/32	-
21-34003412-G-A	SYNJ1	c.4732C>T	p.Pro1578Ser	Missense	32/32	-
X-19854363-G-A	SH3KBP1	c.42C>T	p.His14His	Synonymous	2/18	-
21-34002386-T-C	SYNJ1	c.*919A>G	-	3-UTRSNV	32/32	-
21-34011368-C-T	SYNJ1	c.3882G>A	p.Pro1294Pro	Synonymous	31/32	-
21-34014219-C-A	SYNJ1	c.3692G>T	p.Ser1231Ile	Missense	29/32	-
X-19560059-T-A	SH3KBP1	c.1876A>T	p.Met626Leu	Missense	16/18	-
21-34022489-C-T	SYNJ1	c.3154+5G>A	-	IntronicSNV	-	23/31
21-34051024-G-A	SYNJ1	c.1558C>T	p.Leu520Leu	Synonymous	12/32	-
21-34053864-T-C	SYNJ1	c.1412A>G	p.Asn471Ser	Missense	11/32	-
X-19553314-C-A	SH3KBP1	c.*1221G>T	-	3-UTRSNV	18/18	-
21-34002041-T-C	SYNJ1	c.*1264A>G	-	3-UTRSNV	32/32	-
21-34003356-G-A	SYNJ1	c.4788C>T	p.Phe1596Phe	Synonymous	32/32	-
21-34074352-C-T	SYNJ1	c.247G>A	p.Ala83Thr	Missense	3/32	-
21-34018723-G-C	SYNJ1	c.3344C>G	p.Pro1115Arg	Missense	24/32	-
21-34003850-G-T	SYNJ1	c.4294C>A	p.Pro1432Thr	Missense	32/32	-
21-34037273-C-A	SYNJ1	c.2371G>T	p.Asp791Tyr	Missense	18/32	-
X-19560226-G-A	SH3KBP1	c.1709C>T	p.Ala570Val	Missense	16/18	-
21-34003907-G-A	SYNJ1	c.4237C>T	p.Pro1413Ser	Missense	32/32	-
X-19560086-G-A	SH3KBP1	c.1849C>T	p.Arg617Cys	Missense	16/18	-
21-34053864-T-A	SYNJ1	c.1412A>T	p.Asn471Ile	Missense	11/32	-
11-85733453-A-C	PICALM	c.409T>G	p.Ser137Ala	Missense	4/20	-
21-34014273-C-T	SYNJ1	c.3638G>A	p.Arg1213His	Missense	29/32	-
11-85687722-G-A	PICALM	c.1783C>T	p.Pro595Ser	Missense	18/20	-
21-34037361-A-G	SYNJ1	c.2283T>C	p.His761His	Synonymous	18/32	-
11-85694993-G-T	PICALM	c.1432C>A	p.Gln478Lys	Missense	14/20	-
X-19587293-T-C	SH3KBP1	c.1312A>G	p.Lys438Glu	Missense	13/18	-
21-34018763-A-G	SYNJ1	c.3304T>C	p.Ser1102Pro	Missense	24/32	-
21-34011347-C-T	SYNJ1	c.3903G>A	p.Glu1301Glu	Synonymous	31/32	-
21-34037317-A-G	SYNJ1	c.2327T>C	p.Leu776Pro	Missense	18/32	-
21-34012044-C-T	SYNJ1	c.3751G>A	p.Ala1251Thr	Missense	30/32	-
21-34003377-G-C	SYNJ1	c.4767C>G	p.Thr1589Thr	Synonymous	32/32	-
21-34056437-C-A	SYNJ1	c.1236-8G>T	-	IntronicSNV	-	9/31
X-19564066-T-G	SH3KBP1	c.1597A>C	p.Thr533Pro	Missense	15/18	-
21-34029153-T-C	SYNJ1	c.2756A>G	p.Asn919Ser	Missense	21/32	-
21-34099098-C-A	SYNJ1	c.226G>T	p.Ala76Ser	Missense	2/32	-
21-34099201-C-T	SYNJ1	c.123G>A	p.Ala41Ala	Synonymous	2/32	-
21-34066578-C-T	SYNJ1	c.866G>A	p.Arg289Gln	Missense	6/32	-
21-34011213-C-T	SYNJ1	c.4032+5G>A	-	IntronicSNV	-	31/31
21-34011213-C-A	SYNJ1	c.4032+5G>T	-	IntronicSNV	-	31/31
X-19764497-G-A	SH3KBP1	c.225C>T	p.His75His	Synonymous	3/18	-
21-34045765-G-C	SYNJ1	c.1728C>G	p.Val576Val	Synonymous	14/32	-
21-34045765-G-A	SYNJ1	c.1728C>T	p.Val576Val	Synonymous	14/32	-
21-34003341-A-AA	SYNJ1	c.4803_4803dup	p.Lys1602*fs*1	Nonsense	32/32	-
21-34017994-G-A	SYNJ1	c.3470C>T	p.Thr1157Ile	Missense	25/32	-
X-19554530-A-G	SH3KBP1	c.*5T>C	-	3-UTRSNV	18/18	-
X-19564171-G-A	SH3KBP1	c.1495-3C>T	-	IntronicSNV	-	14/17
11-85723420-G-T	PICALM	c.562C>A	p.Leu188Ile	Missense	6/20	-
21-34003593-C-T	SYNJ1	c.4551G>A	p.Pro1517Pro	Synonymous	32/32	-
21-34038887-C-A	SYNJ1	c.1929-4G>T	-	IntronicSNV	-	15/31
21-34029084-G-C	SYNJ1	c.2825C>G	p.Ser942Cys	Missense	21/32	-
21-34029084-G-T	SYNJ1	c.2825C>A	p.Ser942Tyr	Missense	21/32	-
21-34004074-G-A	SYNJ1	c.4070C>T	p.Ser1357Leu	Missense	32/32	-
21-34018828-G-C	SYNJ1	c.3239C>G	p.Ser1080Cys	Missense	24/32	-
21-34011401-C-T	SYNJ1	c.3849G>A	p.Gln1283Gln	Synonymous	31/32	-
21-34001852-C-T	SYNJ1	c.*1453G>A	-	3-UTRSNV	32/32	-
21-34029217-A-T	SYNJ1	c.2697-5T>A	-	IntronicSNV	-	20/31
21-34001474-C-T	SYNJ1	c.*1831G>A	-	3-UTRSNV	32/32	-
11-85714491-G-A	PICALM	c.811C>T	p.Pro271Ser	Missense	9/20	-
21-34012032-C-T	SYNJ1	c.3763G>A	p.Ala1255Thr	Missense	30/32	-
21-34001430-T-C	SYNJ1	c.*1875A>G	-	3-UTRSNV	32/32	-
21-34004040-T-C	SYNJ1	c.4104A>G	p.Ser1368Ser	Synonymous	32/32	-
21-34003457-T-C	SYNJ1	c.4687A>G	p.Lys1563Glu	Missense	32/32	-
21-34014215-T-C	SYNJ1	c.3696A>G	p.Thr1232Thr	Synonymous	29/32	-
21-34045773-C-T	SYNJ1	c.1720G>A	p.Val574Ile	Missense	14/32	-
11-85722167-T-A	PICALM	c.671A>T	p.Asp224Val	Missense	7/20	-
21-34100283-T-C	SYNJ1	c.69A>G	p.Arg23Arg	Synonymous	1/32	-
21-34003654-A-G	SYNJ1	c.4490T>C	p.Leu1497Pro	Missense	32/32	-
11-85685850-T-C	PICALM	c.1845A>G	p.Pro615Pro	Synonymous	19/20	-
X-19568126-G-A	SH3KBP1	c.1460C>T	p.Thr487Ile	Missense	14/18	-
11-85779792-T-C	PICALM	c.31A>G	p.Thr11Ala	Missense	1/20	-
21-34029372-C-A	SYNJ1	c.2637G>T	p.Thr879Thr	Synonymous	20/32	-
11-85779939-C-T	PICALM	c.1-117G>A	-	5-UTRSNV	1/20	-
21-34018853-A-G	SYNJ1	c.3214T>C	p.Ser1072Pro	Missense	24/32	-
21-34002426-T-C	SYNJ1	c.*879A>G	-	3-UTRSNV	32/32	-
21-34067499-T-C	SYNJ1	c.690A>G	p.Thr230Thr	Synonymous	5/32	-
11-85711782-G-T	PICALM	c.1058C>A	p.Ser353Tyr	Missense	11/20	-
X-19553483-G-A	SH3KBP1	c.*1052C>T	-	3-UTRSNV	18/18	-
11-85722164-A-G	PICALM	c.674T>C	p.Met225Thr	Missense	7/20	-
21-34060630-T-G	SYNJ1	c.954A>C	p.Ala318Ala	Synonymous	7/32	-
21-34059306-C-T	SYNJ1	c.1047G>A	p.Met349Ile	Missense	8/32	-
14-73637521-G-A	PSEN1	c.104G>A	p.Arg35Gln	Missense	4/12	-
X-19606785-G-T	SH3KBP1	c.1274C>A	p.Pro425Gln	Missense	12/18	-
21-34012041-G-C	SYNJ1	c.3754C>G	p.Arg1252Gly	Missense	30/32	-
21-34012041-G-A	SYNJ1	c.3754C>T	p.Arg1252Trp	Missense	30/32	-
11-85692192-C-T	PICALM	c.1759G>A	p.Ala587Thr	Missense	17/20	-
11-85692192-C-A	PICALM	c.1759G>T	p.Ala587Ser	Missense	17/20	-
11-85692813-C-A	PICALM	c.1654G>T	p.Gly552Cys	Missense	16/20	-
11-85692813-C-G	PICALM	c.1654G>C	p.Gly552Arg	Missense	16/20	-
21-34022555-T-C	SYNJ1	c.3093A>G	p.Ser1031Ser	Synonymous	23/32	-
14-73683845-C-G	PSEN1	c.1141C>G	p.Leu381Val	Missense	11/12	-
X-19713824-C-T	SH3KBP1	c.426G>A	p.Gly142Gly	Synonymous	5/18	-
11-85693034-A-G	PICALM	c.1529T>C	p.Leu510Pro	Missense	15/20	-
11-85733432-C-T	PICALM	c.430G>A	p.Asp144Asn	Missense	4/20	-
11-85692805-T-A	PICALM	c.1662A>T	p.Gly554Gly	Synonymous	16/20	-
11-85687732-T-C	PICALM	c.1780-7A>G	-	IntronicSNV	-	17/19
11-85723440-G-A	PICALM	c.547-5C>T	-	IntronicSNV	-	5/19
11-85670065-G-A	PICALM	c.*24C>T	-	3-UTRSNV	20/20	-
14-73640363-T-C	PSEN1	c.428T>C	p.Ile143Thr	Missense	5/12	-
11-85733423-T-C	PICALM	c.439A>G	p.Lys147Glu	Missense	4/20	-
X-19568097-T-C	SH3KBP1	c.1489A>G	p.Thr497Ala	Missense	14/18	-
X-19568097-T-G	SH3KBP1	c.1489A>C	p.Thr497Pro	Missense	14/18	-
21-34060610-T-C	SYNJ1	c.968+6A>G	-	IntronicSNV	-	7/31
X-19552523-G-A	SH3KBP1	c.*2012C>T	-	3-UTRSNV	18/18	-
21-34002437-T-C	SYNJ1	c.*868A>G	-	3-UTRSNV	32/32	-
21-34037314-G-T	SYNJ1	c.2330C>A	p.Pro777His	Missense	18/32	-
21-34018007-C-T	SYNJ1	c.3457G>A	p.Val1153Ile	Missense	25/32	-
21-34072177-T-A	SYNJ1	c.567A>T	p.Gln189His	Missense	4/32	-
X-19560228-C-T	SH3KBP1	c.1707G>A	p.Ala569Ala	Synonymous	16/18	-
11-85692264-T-C	PICALM	c.1687A>G	p.Asn563Asp	Missense	17/20	-
21-34029405-A-G	SYNJ1	c.2604T>C	p.Ala868Ala	Synonymous	20/32	-
21-34011371-G-A	SYNJ1	c.3879C>T	p.Pro1293Pro	Synonymous	31/32	-
X-19553470-C-T	SH3KBP1	c.*1065G>A	-	3-UTRSNV	18/18	-
21-34030110-A-G	SYNJ1	c.2494T>C	p.Tyr832His	Missense	19/32	-
X-19552857-C-A	SH3KBP1	c.*1678G>T	-	3-UTRSNV	18/18	-
X-19606862-C-A	SH3KBP1	c.1197G>T	p.Pro399Pro	Synonymous	12/18	-
21-34001361-T-G	SYNJ1	c.*1944A>C	-	3-UTRSNV	32/32	-
21-34022647-G-A	SYNJ1	c.3001C>T	p.Arg1001Trp	Missense	23/32	-
X-19554494-G-A	SH3KBP1	c.*41C>T	-	3-UTRSNV	18/18	-
21-34072174-T-C	SYNJ1	c.570A>G	p.Glu190Glu	Synonymous	4/32	-
21-34072337-C-T	SYNJ1	c.407G>A	p.Arg136Gln	Missense	4/32	-
21-34029058-C-T	SYNJ1	c.2851G>A	p.Asp951Asn	Missense	21/32	-
21-34050988-C-T	SYNJ1	c.1594G>A	p.Ala532Thr	Missense	12/32	-
X-19552698-T-C	SH3KBP1	c.*1837A>G	-	3-UTRSNV	18/18	-
21-34001274-C-A	SYNJ1	c.*2031G>T	-	3-UTRSNV	32/32	-
21-34099151-C-T	SYNJ1	c.173G>A	p.Ser58Asn	Missense	2/32	-
21-34060658-C-A	SYNJ1	c.926G>T	p.Arg309Leu	Missense	7/32	-
X-19568149-C-T	SH3KBP1	c.1437G>A	p.Pro479Pro	Synonymous	14/18	-
21-34072291-A-G	SYNJ1	c.453T>C	p.Asp151Asp	Synonymous	4/32	-
21-34074326-T-C	SYNJ1	c.273A>G	p.Thr91Thr	Synonymous	3/32	-
21-34045817-A-G	SYNJ1	c.1676T>C	p.Met559Thr	Missense	14/32	-
11-85711828-A-G	PICALM	c.1018-6T>C	-	IntronicSNV	-	10/19
11-85779699-G-C	PICALM	c.124C>G	p.Leu42Val	Missense	1/20	-
21-34002138-T-G	SYNJ1	c.*1167A>C	-	3-UTRSNV	32/32	-
21-34011260-C-G	SYNJ1	c.3990G>C	p.Arg1330Ser	Missense	31/32	-
21-34025636-T-C	SYNJ1	c.2953A>G	p.Ser985Gly	Missense	22/32	-
X-19553468-A-G	SH3KBP1	c.*1067T>C	-	3-UTRSNV	18/18	-
21-34001913-G-A	SYNJ1	c.*1392C>T	-	3-UTRSNV	32/32	-
11-85711771-C-G	PICALM	c.1069G>C	p.Ala357Pro	Missense	11/20	-
21-34018004-C-T	SYNJ1	c.3460G>A	p.Ala1154Thr	Missense	25/32	-
21-34003808-T-C	SYNJ1	c.4336A>G	p.Ser1446Gly	Missense	32/32	-
21-34003808-T-A	SYNJ1	c.4336A>T	p.Ser1446Cys	Missense	32/32	-
X-19553762-G-C	SH3KBP1	c.*773C>G	-	3-UTRSNV	18/18	-
11-85711809-T-C	PICALM	c.1031A>G	p.Lys344Arg	Missense	11/20	-
21-34053931-C-G	SYNJ1	c.1345G>C	p.Gly449Arg	Missense	11/32	-
11-85707975-A-T	PICALM	c.1155-3T>A	-	IntronicSNV	-	11/19
11-85692816-G-T	PICALM	c.1651C>A	p.Leu551Ile	Missense	16/20	-
X-19552514-G-A	SH3KBP1	c.*2021C>T	-	3-UTRSNV	18/18	-
21-34003967-T-G	SYNJ1	c.4177A>C	p.Arg1393Arg	Synonymous	32/32	-
21-34067543-C-T	SYNJ1	c.646G>A	p.Asp216Asn	Missense	5/32	-
X-19560054-C-T	SH3KBP1	c.1881G>A	p.Lys627Lys	Synonymous	16/18	-
21-34072375-A-C	SYNJ1	c.369T>G	p.Cys123Trp	Missense	4/32	-
21-34011225-T-C	SYNJ1	c.4025A>G	p.Gln1342Arg	Missense	31/32	-
21-34002358-T-G	SYNJ1	c.*947A>C	-	3-UTRSNV	32/32	-
11-85692259-C-A	PICALM	c.1692G>T	p.Trp564Cys	Missense	17/20	-
X-19554411-T-C	SH3KBP1	c.*124A>G	-	3-UTRSNV	18/18	-
21-34053865-T-C	SYNJ1	c.1411A>G	p.Asn471Asp	Missense	11/32	-
11-85707976-G-A	PICALM	c.1155-4C>T	-	IntronicSNV	-	11/19
21-34002700-T-C	SYNJ1	c.*605A>G	-	3-UTRSNV	32/32	-
21-34037262-T-C	SYNJ1	c.2382A>G	p.Ile794Met	Missense	18/32	-
11-85692966-T-C	PICALM	c.1597A>G	p.Ser533Gly	Missense	15/20	-
21-34099196-C-T	SYNJ1	c.128G>A	p.Ser43Asn	Missense	2/32	-
21-34099232-C-A	SYNJ1	c.96-4G>T	-	IntronicSNV	-	1/31
21-34072408-A-T	SYNJ1	c.336T>A	p.Thr112Thr	Synonymous	4/32	-
11-85726011-T-A	PICALM	c.453-5A>T	-	IntronicSNV	-	4/19
21-34072276-T-C	SYNJ1	c.468A>G	p.Ser156Ser	Synonymous	4/32	-
21-34072173-G-C	SYNJ1	c.571C>G	p.Gln191Glu	Missense	4/32	-
21-34018917-G-A	SYNJ1	c.3155-5C>T	-	IntronicSNV	-	23/31
14-73683855-G-C	PSEN1	c.1151G>C	p.Gly384Ala	Missense	11/12	-
21-34042592-G-A	SYNJ1	c.1928+6C>T	-	IntronicSNV	-	15/31
21-34100288-C-T	SYNJ1	c.64G>A	p.Gly22Arg	Missense	1/32	-
21-34014214-C-G	SYNJ1	c.3697G>C	p.Ala1233Pro	Missense	29/32	-
21-34067413-C-A	SYNJ1	c.776G>T	p.Gly259Val	Missense	5/32	-
21-34067413-C-T	SYNJ1	c.776G>A	p.Gly259Glu	Missense	5/32	-
X-19854267-A-C	SH3KBP1	c.138T>G	p.Gly46Gly	Synonymous	2/18	-
11-85725948-T-C	PICALM	c.511A>G	p.Ile171Val	Missense	5/20	-
21-34004061-A-C	SYNJ1	c.4083T>G	p.Ile1361Met	Missense	32/32	-
21-34038757-A-G	SYNJ1	c.2055T>C	p.His685His	Synonymous	16/32	-
21-34038775-A-G	SYNJ1	c.2037T>C	p.Val679Val	Synonymous	16/32	-
11-85718612-G-T	PICALM	c.780C>A	p.Asp260Glu	Missense	8/20	-
21-34003450-G-C	SYNJ1	c.4694C>G	p.Thr1565Arg	Missense	32/32	-
X-19555842-C-T	SH3KBP1	c.1949G>A	p.Arg650Gln	Missense	17/18	-
21-34003779-T-C	SYNJ1	c.4365A>G	p.Pro1455Pro	Synonymous	32/32	-
X-19555838-C-T	SH3KBP1	c.1953G>A	p.Leu651Leu	Synonymous	17/18	-
11-85742619-G-A	PICALM	c.165C>T	p.Asn55Asn	Synonymous	2/20	-
21-34067523-C-T	SYNJ1	c.666G>A	p.Met222Ile	Missense	5/32	-
11-85694986-T-C	PICALM	c.1439A>G	p.His480Arg	Missense	14/20	-
21-34022540-G-A	SYNJ1	c.3108C>T	p.Thr1036Thr	Synonymous	23/32	-
21-34002688-T-C	SYNJ1	c.*617A>G	-	3-UTRSNV	32/32	-
21-34060611-C-T	SYNJ1	c.968+5G>A	-	IntronicSNV	-	7/31
21-34003585-C-T	SYNJ1	c.4559G>A	p.Trp1520*	Nonsense	32/32	-
21-34072187-C-T	SYNJ1	c.557G>A	p.Arg186His	Missense	4/32	-
11-85779699-G-A	PICALM	c.124C>T	p.Leu42Leu	Synonymous	1/20	-
11-85685824-G-A	PICALM	c.1871C>T	p.Thr624Met	Missense	19/20	-
X-19764458-C-T	SH3KBP1	c.264G>A	p.Thr88Thr	Synonymous	3/18	-
X-19725088-G-A	SH3KBP1	c.301C>T	p.Arg101Cys	Missense	4/18	-
X-19554509-A-T	SH3KBP1	c.*26T>A	-	3-UTRSNV	18/18	-
11-85692912-T-C	PICALM	c.1648+3A>G	-	IntronicSNV	-	15/19
21-34037370-T-C	SYNJ1	c.2274A>G	p.Leu758Leu	Synonymous	18/32	-
21-34022540-G-T	SYNJ1	c.3108C>A	p.Thr1036Thr	Synonymous	23/32	-
21-34003648-C-T	SYNJ1	c.4496G>A	p.Gly1499Asp	Missense	32/32	-
11-85692808-G-T	PICALM	c.1659C>A	p.Ile553Ile	Synonymous	16/20	-
X-19725073-C-T	SH3KBP1	c.316G>A	p.Ala106Thr	Missense	4/18	-
21-34003303-C-T	SYNJ1	c.*2G>A	-	3-UTRSNV	32/32	-
11-85692808-G-C	PICALM	c.1659C>G	p.Ile553Met	Missense	16/20	-
11-85692808-G-A	PICALM	c.1659C>T	p.Ile553Ile	Synonymous	16/20	-
21-34011985-C-A	SYNJ1	c.3810G>T	p.Ser1270Ser	Synonymous	30/32	-
21-34072206-A-G	SYNJ1	c.538T>C	p.Leu180Leu	Synonymous	4/32	-
21-34011985-C-T	SYNJ1	c.3810G>A	p.Ser1270Ser	Synonymous	30/32	-
21-34060624-A-G	SYNJ1	c.960T>C	p.Ala320Ala	Synonymous	7/32	-
21-34029205-C-G	SYNJ1	c.2704G>C	p.Val902Leu	Missense	21/32	-
21-34012042-C-T	SYNJ1	c.3753G>A	p.Ala1251Ala	Synonymous	30/32	-
21-34045823-T-C	SYNJ1	c.1670A>G	p.Lys557Arg	Missense	14/32	-
11-85711727-T-A	PICALM	c.1113A>T	p.Ala371Ala	Synonymous	11/20	-
21-34003796-C-G	SYNJ1	c.4348G>C	p.Ala1450Pro	Missense	32/32	-
11-85711817-C-T	PICALM	c.1023G>A	p.Gln341Gln	Synonymous	11/20	-
11-85733516-T-C	PICALM	c.350-4A>G	-	IntronicSNV	-	3/19
11-85733516-T-A	PICALM	c.350-4A>T	-	IntronicSNV	-	3/19
11-85694999-C-A	PICALM	c.1426G>T	p.Val476Phe	Missense	14/20	-
11-85742620-T-C	PICALM	c.164A>G	p.Asn55Ser	Missense	2/20	-
11-85701363-A-G	PICALM	c.1338T>C	p.Asp446Asp	Synonymous	13/20	-
21-34003851-A-G	SYNJ1	c.4293T>C	p.Ser1431Ser	Synonymous	32/32	-
11-85779723-T-C	PICALM	c.100A>G	p.Ile34Val	Missense	1/20	-
21-34029423-A-C	SYNJ1	c.2586T>G	p.Asp862Glu	Missense	20/32	-
X-19650075-G-A	SH3KBP1	c.804C>T	p.Ser268Ser	Synonymous	8/18	-
21-34018014-G-C	SYNJ1	c.3450C>G	p.Pro1150Pro	Synonymous	25/32	-
X-19552335-A-G	SH3KBP1	c.*2200T>C	-	3-UTRSNV	18/18	-
X-19552335-A-C	SH3KBP1	c.*2200T>G	-	3-UTRSNV	18/18	-
21-34011386-C-A	SYNJ1	c.3864G>T	p.Pro1288Pro	Synonymous	31/32	-
21-34038360-T-C	SYNJ1	c.2155A>G	p.Thr719Ala	Missense	17/32	-
X-19553433-G-A	SH3KBP1	c.*1102C>T	-	3-UTRSNV	18/18	-
21-34050957-C-T	SYNJ1	c.1625G>A	p.Arg542His	Missense	12/32	-
21-34053801-T-C	SYNJ1	c.1470+5A>G	-	IntronicSNV	-	11/31
21-34011253-G-A	SYNJ1	c.3997C>T	p.His1333Tyr	Missense	31/32	-
11-85707980-G-A	PICALM	c.1155-8C>T	-	IntronicSNV	-	11/19
11-85707872-C-T	PICALM	c.1255G>A	p.Gly419Arg	Missense	12/20	-
11-85692279-T-C	PICALM	c.1680-8A>G	-	IntronicSNV	-	16/19
11-85692279-T-G	PICALM	c.1680-8A>C	-	IntronicSNV	-	16/19
X-19817765-T-C	SH3KBP1	c.162+36478A>G	-	IntronicSNV	-	2/17
21-34003881-C-A	SYNJ1	c.4263G>T	p.Arg1421Arg	Synonymous	32/32	-
21-34025611-A-C	SYNJ1	c.2978T>G	p.Leu993Arg	Missense	22/32	-
21-34004006-A-G	SYNJ1	c.4138T>C	p.Ser1380Pro	Missense	32/32	-
21-34030136-T-C	SYNJ1	c.2468A>G	p.Tyr823Cys	Missense	19/32	-
21-34072296-A-C	SYNJ1	c.448T>G	p.Ser150Ala	Missense	4/32	-
21-34050976-A-C	SYNJ1	c.1606T>G	p.Leu536Val	Missense	12/32	-
21-34011366-G-A	SYNJ1	c.3884C>T	p.Pro1295Leu	Missense	31/32	-
21-34025657-A-G	SYNJ1	c.2932T>C	p.Trp978Arg	Missense	22/32	-
21-34002049-C-A	SYNJ1	c.*1256G>T	-	3-UTRSNV	32/32	-
21-34011386-C-T	SYNJ1	c.3864G>A	p.Pro1288Pro	Synonymous	31/32	-
X-19702070-T-C	SH3KBP1	c.597A>G	p.Thr199Thr	Synonymous	6/18	-
21-34067583-A-C	SYNJ1	c.606T>G	p.Ser202Ser	Synonymous	5/32	-
21-34003655-G-A	SYNJ1	c.4489C>T	p.Leu1497Phe	Missense	32/32	-
21-34003782-G-A	SYNJ1	c.4362C>T	p.Asn1454Asn	Synonymous	32/32	-
X-19554349-C-G	SH3KBP1	c.*186G>C	-	3-UTRSNV	18/18	-
X-19554349-C-A	SH3KBP1	c.*186G>T	-	3-UTRSNV	18/18	-
21-34003255-T-G	SYNJ1	c.*50A>C	-	3-UTRSNV	32/32	-
21-34003517-G-T	SYNJ1	c.4627C>A	p.Leu1543Met	Missense	32/32	-
21-34003517-G-A	SYNJ1	c.4627C>T	p.Leu1543Leu	Synonymous	32/32	-
11-85670060-T-C	PICALM	c.*29A>G	-	3-UTRSNV	20/20	-
X-19854361-T-C	SH3KBP1	c.44A>G	p.Asp15Gly	Missense	2/18	-
11-85779769-G-T	PICALM	c.54C>A	p.Thr18Thr	Synonymous	1/20	-
21-34003619-G-A	SYNJ1	c.4525C>T	p.Gln1509*	Nonsense	32/32	-
11-85711815-C-T	PICALM	c.1025G>A	p.Arg342His	Missense	11/20	-
21-34003901-T-C	SYNJ1	c.4243A>G	p.Met1415Val	Missense	32/32	-
11-85707889-T-C	PICALM	c.1238A>G	p.Gln413Arg	Missense	12/20	-
11-85701408-A-C	PICALM	c.1293T>G	p.Asp431Glu	Missense	13/20	-
21-34029053-G-A	SYNJ1	c.2856C>T	p.Ala952Ala	Synonymous	21/32	-
21-34003411-G-C	SYNJ1	c.4733C>G	p.Pro1578Arg	Missense	32/32	-
21-34002983-G-A	SYNJ1	c.*322C>T	-	3-UTRSNV	32/32	-
21-34099169-A-G	SYNJ1	c.155T>C	p.Leu52Ser	Missense	2/32	-
X-19560264-T-C	SH3KBP1	c.1671A>G	p.Ala557Ala	Synonymous	16/18	-
14-73659517-C-G	PSEN1	c.714C>G	p.Ile238Met	Missense	7/12	-
11-85692265-T-C	PICALM	c.1686A>G	p.Val562Val	Synonymous	17/20	-
21-34001639-G-A	SYNJ1	c.*1666C>T	-	3-UTRSNV	32/32	-
21-34018757-G-A	SYNJ1	c.3310C>T	p.Pro1104Ser	Missense	24/32	-
11-85685809-A-G	PICALM	c.1886T>C	p.Ile629Thr	Missense	19/20	-
X-19606768-G-T	SH3KBP1	c.1291C>A	p.His431Asn	Missense	12/18	-
X-19560130-G-A	SH3KBP1	c.1805C>T	p.Ala602Val	Missense	16/18	-
21-34014423-T-C	SYNJ1	c.3616A>G	p.Thr1206Ala	Missense	28/32	-
X-19552326-G-A	SH3KBP1	c.*2209C>T	-	3-UTRSNV	18/18	-
X-19701933-G-A	SH3KBP1	c.726+8C>T	-	IntronicSNV	-	6/17
11-85742556-G-C	PICALM	c.228C>G	p.Phe76Leu	Missense	2/20	-
X-19552331-G-A	SH3KBP1	c.*2204C>T	-	3-UTRSNV	18/18	-
21-34014429-C-G	SYNJ1	c.3610G>C	p.Gly1204Arg	Missense	28/32	-
X-19552331-G-C	SH3KBP1	c.*2204C>G	-	3-UTRSNV	18/18	-
21-34067573-G-A	SYNJ1	c.616C>T	p.His206Tyr	Missense	5/32	-
21-34011412-G-T	SYNJ1	c.3838C>A	p.Leu1280Met	Missense	31/32	-
X-19587283-A-C	SH3KBP1	c.1322T>G	p.Leu441Trp	Missense	13/18	-
X-19702004-G-T	SH3KBP1	c.663C>A	p.Asp221Glu	Missense	6/18	-
X-19564097-A-G	SH3KBP1	c.1566T>C	p.Leu522Leu	Synonymous	15/18	-
11-85711720-T-C	PICALM	c.1120A>G	p.Ile374Val	Missense	11/20	-
21-34100320-C-T	SYNJ1	c.32G>A	p.Ser11Asn	Missense	1/32	-
21-34014259-G-A	SYNJ1	c.3652C>T	p.Pro1218Ser	Missense	29/32	-
11-85779829-A-T	PICALM	c.1-7T>A	-	5-UTRSNV	1/20	-
X-19702010-G-A	SH3KBP1	c.657C>T	p.Phe219Phe	Synonymous	6/18	-
X-19568176-T-C	SH3KBP1	c.1410A>G	p.Val470Val	Synonymous	14/18	-
11-85669984-G-C	PICALM	c.*105C>G	-	3-UTRSNV	20/20	-
21-34003800-C-T	SYNJ1	c.4344G>A	p.Arg1448Arg	Synonymous	32/32	-
11-85692181-A-T	PICALM	c.1770T>A	p.Ala590Ala	Synonymous	17/20	-
21-34100302-C-T	SYNJ1	c.50G>A	p.Cys17Tyr	Missense	1/32	-
11-85692181-A-C	PICALM	c.1770T>G	p.Ala590Ala	Synonymous	17/20	-
14-73637671-T-C	PSEN1	c.254T>C	p.Leu85Pro	Missense	4/12	-
21-34003995-C-T	SYNJ1	c.4149G>A	p.Thr1383Thr	Synonymous	32/32	-
X-19713773-C-T	SH3KBP1	c.477G>A	p.Ser159Ser	Synonymous	5/18	-
X-19560247-G-A	SH3KBP1	c.1688C>T	p.Pro563Leu	Missense	16/18	-
21-34003383-G-A	SYNJ1	c.4761C>T	p.Pro1587Pro	Synonymous	32/32	-
X-19854269-C-T	SH3KBP1	c.136G>A	p.Gly46Ser	Missense	2/18	-
X-19560277-G-A	SH3KBP1	c.1658C>T	p.Pro553Leu	Missense	16/18	-
21-34002700-T-A	SYNJ1	c.*605A>T	-	3-UTRSNV	32/32	-
21-34003859-G-C	SYNJ1	c.4285C>G	p.Arg1429Gly	Missense	32/32	-
21-34003859-G-A	SYNJ1	c.4285C>T	p.Arg1429*	Nonsense	32/32	-
X-19560062-T-A	SH3KBP1	c.1873A>T	p.Thr625Ser	Missense	16/18	-
21-34001768-A-G	SYNJ1	c.*1537T>C	-	3-UTRSNV	32/32	-
21-34003511-T-G	SYNJ1	c.4633A>C	p.Asn1545His	Missense	32/32	-
21-34003511-T-C	SYNJ1	c.4633A>G	p.Asn1545Asp	Missense	32/32	-
21-34014207-G-T	SYNJ1	c.3704C>A	p.Pro1235Gln	Missense	29/32	-
X-19560189-T-C	SH3KBP1	c.1746A>G	p.Gly582Gly	Synonymous	16/18	-
21-34038256-A-C	SYNJ1	c.2259T>G	p.Pro753Pro	Synonymous	17/32	-
21-34060636-G-A	SYNJ1	c.948C>T	p.Ala316Ala	Synonymous	7/32	-
14-73673096-A-C	PSEN1	c.871A>C	p.Thr291Pro	Missense	9/12	-
21-34001496-G-A	SYNJ1	c.*1809C>T	-	3-UTRSNV	32/32	-
11-85737412-G-A	PICALM	c.274-3C>T	-	IntronicSNV	-	2/19
11-85711749-G-A	PICALM	c.1091C>T	p.Ser364Leu	Missense	11/20	-
21-34029048-A-C	SYNJ1	c.2861T>G	p.Ile954Ser	Missense	21/32	-
11-85694901-T-C	PICALM	c.1516+8A>G	-	IntronicSNV	-	14/19
21-34029183-A-G	SYNJ1	c.2726T>C	p.Ile909Thr	Missense	21/32	-
11-85694930-T-C	PICALM	c.1495A>G	p.Asn499Asp	Missense	14/20	-
21-34028991-T-C	SYNJ1	c.2912+6A>G	-	IntronicSNV	-	21/31
11-85701450-G-A	PICALM	c.1259-8C>T	-	IntronicSNV	-	12/19
X-19587233-T-C	SH3KBP1	c.1372A>G	p.Ser458Gly	Missense	13/18	-
X-19555862-T-G	SH3KBP1	c.1929A>C	p.Glu643Asp	Missense	17/18	-
21-34001244-A-G	SYNJ1	c.*2061T>C	-	3-UTRSNV	32/32	-
11-85714476-C-G	PICALM	c.826G>C	p.Asp276His	Missense	9/20	-
11-85714476-C-T	PICALM	c.826G>A	p.Asp276Asn	Missense	9/20	-
21-34003563-C-T	SYNJ1	c.4581G>A	p.Glu1527Glu	Synonymous	32/32	-
21-34014220-T-C	SYNJ1	c.3691A>G	p.Ser1231Gly	Missense	29/32	-
21-34045795-A-G	SYNJ1	c.1698T>C	p.Tyr566Tyr	Synonymous	14/32	-
11-85707863-G-A	PICALM	c.1258+6C>T	-	IntronicSNV	-	12/19
21-34015765-T-C	SYNJ1	c.3550A>G	p.Ile1184Val	Missense	27/32	-
11-85712114-T-G	PICALM	c.981A>C	p.Ala327Ala	Synonymous	10/20	-
11-85737414-A-G	PICALM	c.274-5T>C	-	IntronicSNV	-	2/19
21-34022588-C-T	SYNJ1	c.3060G>A	p.Met1020Ile	Missense	23/32	-
21-34038857-A-G	SYNJ1	c.1955T>C	p.Val652Ala	Missense	16/32	-
21-34003532-C-G	SYNJ1	c.4612G>C	p.Ala1538Pro	Missense	32/32	-
21-34014244-C-G	SYNJ1	c.3667G>C	p.Ala1223Pro	Missense	29/32	-
X-19649977-T-C	SH3KBP1	c.897+5A>G	-	IntronicSNV	-	8/17
21-34072292-T-A	SYNJ1	c.452A>T	p.Asp151Val	Missense	4/32	-
11-85712149-G-A	PICALM	c.946C>T	p.Leu316Leu	Synonymous	10/20	-
21-34011301-G-T	SYNJ1	c.3949C>A	p.Pro1317Thr	Missense	31/32	-
21-34030135-A-G	SYNJ1	c.2469T>C	p.Tyr823Tyr	Synonymous	19/32	-
21-34001316-T-C	SYNJ1	c.*1989A>G	-	3-UTRSNV	32/32	-
11-85711703-G-T	PICALM	c.1137C>A	p.Thr379Thr	Synonymous	11/20	-
21-34028990-A-G	SYNJ1	c.2912+7T>C	-	IntronicSNV	-	21/31
21-34022576-T-C	SYNJ1	c.3072A>G	p.Lys1024Lys	Synonymous	23/32	-
21-34067480-G-T	SYNJ1	c.709C>A	p.Gln237Lys	Missense	5/32	-
21-34003532-C-A	SYNJ1	c.4612G>T	p.Ala1538Ser	Missense	32/32	-
X-19553580-C-T	SH3KBP1	c.*955G>A	-	3-UTRSNV	18/18	-
11-85733508-A-G	PICALM	c.354T>C	p.Tyr118Tyr	Synonymous	4/20	-
X-19626080-T-C	SH3KBP1	c.981A>G	p.Pro327Pro	Synonymous	9/18	-
11-85692174-T-C	PICALM	c.1777A>G	p.Met593Val	Missense	17/20	-
X-19713740-T-G	SH3KBP1	c.510A>C	p.Leu170Leu	Synonymous	5/18	-
X-19713740-T-C	SH3KBP1	c.510A>G	p.Leu170Leu	Synonymous	5/18	-
21-34072326-T-A	SYNJ1	c.418A>T	p.Thr140Ser	Missense	4/32	-
X-19854318-G-A	SH3KBP1	c.87C>T	p.Ile29Ile	Synonymous	2/18	-
X-19553948-C-T	SH3KBP1	c.*587G>A	-	3-UTRSNV	18/18	-
21-34003602-A-G	SYNJ1	c.4542T>C	p.Ile1514Ile	Synonymous	32/32	-
11-85714470-A-G	PICALM	c.832T>C	p.Leu278Leu	Synonymous	9/20	-
21-34059374-T-G	SYNJ1	c.979A>C	p.Thr327Pro	Missense	8/32	-
X-19724993-G-A	SH3KBP1	c.390+6C>T	-	IntronicSNV	-	4/17
X-19560123-G-A	SH3KBP1	c.1812C>T	p.Ser604Ser	Synonymous	16/18	-
21-34058084-A-T	SYNJ1	c.1209T>A	p.Phe403Leu	Missense	9/32	-
11-85714430-T-C	PICALM	c.872A>G	p.Lys291Arg	Missense	9/20	-
21-34002378-G-A	SYNJ1	c.*927C>T	-	3-UTRSNV	32/32	-
11-85694941-T-C	PICALM	c.1484A>G	p.Asn495Ser	Missense	14/20	-
11-85707905-T-C	PICALM	c.1222A>G	p.Met408Val	Missense	12/20	-
X-19560296-C-A	SH3KBP1	c.1639G>T	p.Ala547Ser	Missense	16/18	-
11-85694923-A-G	PICALM	c.1502T>C	p.Ile501Thr	Missense	14/20	-
21-34003331-G-A	SYNJ1	c.4813C>T	p.Pro1605Ser	Missense	32/32	-
X-19560285-C-T	SH3KBP1	c.1650G>A	p.Pro550Pro	Synonymous	16/18	-
21-34018062-C-A	SYNJ1	c.3402G>T	p.Pro1134Pro	Synonymous	25/32	-
21-34100319-A-C	SYNJ1	c.33T>G	p.Ser11Arg	Missense	1/32	-
21-34025658-C-T	SYNJ1	c.2931G>A	p.Met977Ile	Missense	22/32	-
11-85779750-T-C	PICALM	c.73A>G	p.Thr25Ala	Missense	1/20	-
21-34029349-T-G	SYNJ1	c.2660A>C	p.His887Pro	Missense	20/32	-
21-34029131-T-G	SYNJ1	c.2778A>C	p.Ala926Ala	Synonymous	21/32	-
X-19560229-G-A	SH3KBP1	c.1706C>T	p.Ala569Val	Missense	16/18	-
21-34018740-T-C	SYNJ1	c.3327A>G	p.Arg1109Arg	Synonymous	24/32	-
11-85669984-G-A	PICALM	c.*105C>T	-	3-UTRSNV	20/20	-
21-34018783-A-C	SYNJ1	c.3284T>G	p.Ile1095Arg	Missense	24/32	-
11-85692187-C-G	PICALM	c.1764G>C	p.Trp588Cys	Missense	17/20	-
11-85707960-C-A	PICALM	c.1167G>T	p.Leu389Leu	Synonymous	12/20	-
11-85723446-A-AA	PICALM	c.547-7_547-7dup	-	IntronicInsertion	-	5/19
21-34037271-A-G	SYNJ1	c.2373T>C	p.Asp791Asp	Synonymous	18/32	-
21-34003973-G-T	SYNJ1	c.4171C>A	p.Pro1391Thr	Missense	32/32	-
21-34003973-G-A	SYNJ1	c.4171C>T	p.Pro1391Ser	Missense	32/32	-
X-19702076-G-A	SH3KBP1	c.591C>T	p.Asn197Asn	Synonymous	6/18	-
X-19701970-C-T	SH3KBP1	c.697G>A	p.Val233Ile	Missense	6/18	-
X-19553583-G-A	SH3KBP1	c.*952C>T	-	3-UTRSNV	18/18	-
11-85670024-G-A	PICALM	c.*65C>T	-	3-UTRSNV	20/20	-
21-34011336-G-A	SYNJ1	c.3914C>T	p.Pro1305Leu	Missense	31/32	-
21-34003725-C-T	SYNJ1	c.4419G>A	p.Glu1473Glu	Synonymous	32/32	-
11-85707952-T-C	PICALM	c.1175A>G	p.Asp392Gly	Missense	12/20	-
X-19854278-C-G	SH3KBP1	c.127G>C	p.Gly43Arg	Missense	2/18	-
21-34002359-C-G	SYNJ1	c.*946G>C	-	3-UTRSNV	32/32	-
21-34017295-G-C	SYNJ1	c.3530C>G	p.Thr1177Ser	Missense	26/32	-
X-19587225-G-T	SH3KBP1	c.1380C>A	p.Asp460Glu	Missense	13/18	-
X-19626152-G-A	SH3KBP1	c.909C>T	p.Asp303Asp	Synonymous	9/18	-
X-19554038-C-A	SH3KBP1	c.*497G>T	-	3-UTRSNV	18/18	-
21-34011387-G-A	SYNJ1	c.3863C>T	p.Pro1288Leu	Missense	31/32	-
X-19725062-G-A	SH3KBP1	c.327C>T	p.Tyr109Tyr	Synonymous	4/18	-
X-19587311-A-G	SH3KBP1	c.1299-5T>C	-	IntronicSNV	-	12/17
21-34099133-C-T	SYNJ1	c.191G>A	p.Arg64Lys	Missense	2/32	-
21-34067516-C-T	SYNJ1	c.673G>A	p.Gly225Arg	Missense	5/32	-
X-19854340-A-G	SH3KBP1	c.65T>C	p.Val22Ala	Missense	2/18	-
11-85737366-A-G	PICALM	c.317T>C	p.Leu106Ser	Missense	3/20	-
X-19552311-G-A	SH3KBP1	c.*2224C>T	-	3-UTRSNV	18/18	-
21-34029373-G-A	SYNJ1	c.2636C>T	p.Thr879Met	Missense	20/32	-
11-85779757-T-C	PICALM	c.66A>G	p.Val22Val	Synonymous	1/20	-
21-34072218-T-A	SYNJ1	c.526A>T	p.Ile176Phe	Missense	4/32	-
11-85670101-T-C	PICALM	c.1947A>G	p.Ile649Met	Missense	20/20	-
X-19552482-T-G	SH3KBP1	c.*2053A>C	-	3-UTRSNV	18/18	-
X-19613083-G-A	SH3KBP1	c.1041C>T	p.Val347Val	Synonymous	10/18	-
21-34003540-G-C	SYNJ1	c.4604C>G	p.Ser1535*	Nonsense	32/32	-
11-85723406-T-C	PICALM	c.576A>G	p.Val192Val	Synonymous	6/20	-
11-85712088-T-C	PICALM	c.1007A>G	p.Lys336Arg	Missense	10/20	-
21-34037277-A-T	SYNJ1	c.2367T>A	p.Asn789Lys	Missense	18/32	-
11-85722130-G-C	PICALM	c.708C>G	p.Ile236Met	Missense	7/20	-
21-34003719-A-G	SYNJ1	c.4425T>C	p.Val1475Val	Synonymous	32/32	-
X-19613092-G-A	SH3KBP1	c.1032C>T	p.Ser344Ser	Synonymous	10/18	-
21-34058182-T-G	SYNJ1	c.1111A>C	p.Asn371His	Missense	9/32	-
11-85692216-G-T	PICALM	c.1735C>A	p.Gln579Lys	Missense	17/20	-
11-85711764-G-A	PICALM	c.1076C>T	p.Ser359Phe	Missense	11/20	-
X-19650080-T-A	SH3KBP1	c.803-4A>T	-	IntronicSNV	-	7/17
21-34001713-T-C	SYNJ1	c.*1592A>G	-	3-UTRSNV	32/32	-
21-34003322-C-A	SYNJ1	c.4822G>T	p.Asp1608Tyr	Missense	32/32	-
21-34002523-C-G	SYNJ1	c.*782G>C	-	3-UTRSNV	32/32	-
X-19610195-T-C	SH3KBP1	c.1128A>G	p.Thr376Thr	Synonymous	11/18	-
21-34059327-T-C	SYNJ1	c.1026A>G	p.Gly342Gly	Synonymous	8/32	-
21-34003634-A-G	SYNJ1	c.4510T>C	p.Phe1504Leu	Missense	32/32	-
11-85701301-A-G	PICALM	c.1400T>C	p.Met467Thr	Missense	13/20	-
21-34003513-C-T	SYNJ1	c.4631G>A	p.Gly1544Asp	Missense	32/32	-
X-19553489-C-T	SH3KBP1	c.*1046G>A	-	3-UTRSNV	18/18	-
21-34051007-A-G	SYNJ1	c.1575T>C	p.Asn525Asn	Synonymous	12/32	-
X-19554269-A-T	SH3KBP1	c.*266T>A	-	3-UTRSNV	18/18	-
21-34022621-A-C	SYNJ1	c.3027T>G	p.Ser1009Arg	Missense	23/32	-
21-34038865-G-C	SYNJ1	c.1947C>G	p.Leu649Leu	Synonymous	16/32	-
11-85694957-C-T	PICALM	c.1468G>A	p.Glu490Lys	Missense	14/20	-
11-85687686-C-T	PICALM	c.1819G>A	p.Gly607Ser	Missense	18/20	-
X-19764496-C-T	SH3KBP1	c.226G>A	p.Glu76Lys	Missense	3/18	-
X-19560215-G-T	SH3KBP1	c.1720C>A	p.Leu574Met	Missense	16/18	-
X-19560215-G-A	SH3KBP1	c.1720C>T	p.Leu574Leu	Synonymous	16/18	-
21-34002227-G-C	SYNJ1	c.*1078C>G	-	3-UTRSNV	32/32	-
11-85725983-A-C	PICALM	c.476T>G	p.Met159Arg	Missense	5/20	-
11-85725983-A-G	PICALM	c.476T>C	p.Met159Thr	Missense	5/20	-
X-19560097-C-G	SH3KBP1	c.1838G>C	p.Arg613Thr	Missense	16/18	-
21-34072384-G-A	SYNJ1	c.360C>T	p.Val120Val	Synonymous	4/32	-
21-34059380-A-G	SYNJ1	c.973T>C	p.Phe325Leu	Missense	8/32	-
X-19724992-C-T	SH3KBP1	c.390+7G>A	-	IntronicSNV	-	4/17
X-19554020-T-C	SH3KBP1	c.*515A>G	-	3-UTRSNV	18/18	-
X-19854272-T-C	SH3KBP1	c.133A>G	p.Arg45Gly	Missense	2/18	-
X-19552693-A-G	SH3KBP1	c.*1842T>C	-	3-UTRSNV	18/18	-
21-34067370-T-C	SYNJ1	c.819A>G	p.Glu273Glu	Synonymous	5/32	-
11-85711732-T-C	PICALM	c.1108A>G	p.Thr370Ala	Missense	11/20	-
11-85711732-T-G	PICALM	c.1108A>C	p.Thr370Pro	Missense	11/20	-
11-85692812-C-G	PICALM	c.1655G>C	p.Gly552Ala	Missense	16/20	-
X-19553052-G-T	SH3KBP1	c.*1483C>A	-	3-UTRSNV	18/18	-
21-34100254-C-G	SYNJ1	c.95+3G>C	-	IntronicSNV	-	1/31
21-34100254-C-T	SYNJ1	c.95+3G>A	-	IntronicSNV	-	1/31
21-34012074-C-A	SYNJ1	c.3721G>T	p.Ala1241Ser	Missense	30/32	-
11-85712172-G-C	PICALM	c.923C>G	p.Ser308Cys	Missense	10/20	-
11-85707862-T-C	PICALM	c.1258+7A>G	-	IntronicSNV	-	12/19
X-19606802-C-T	SH3KBP1	c.1257G>A	p.Pro419Pro	Synonymous	12/18	-
21-34067539-C-A	SYNJ1	c.650G>T	p.Trp217Leu	Missense	5/32	-
11-85712163-C-T	PICALM	c.932G>A	p.Ser311Asn	Missense	10/20	-
11-85701319-C-A	PICALM	c.1382G>T	p.Arg461Met	Missense	13/20	-
11-85669942-G-T	PICALM	c.*147C>A	-	3-UTRSNV	20/20	-
21-34004094-G-A	SYNJ1	c.4050C>T	p.Ile1350Ile	Synonymous	32/32	-
21-34004094-G-T	SYNJ1	c.4050C>A	p.Ile1350Ile	Synonymous	32/32	-
21-34037365-G-A	SYNJ1	c.2279C>T	p.Ser760Phe	Missense	18/32	-
11-85707979-A-T	PICALM	c.1155-7T>A	-	IntronicSNV	-	11/19
11-85692249-C-A	PICALM	c.1702G>T	p.Gly568Cys	Missense	17/20	-
21-34002060-C-T	SYNJ1	c.*1245G>A	-	3-UTRSNV	32/32	-
21-34029161-C-T	SYNJ1	c.2748G>A	p.Glu916Glu	Synonymous	21/32	-
21-34002220-G-C	SYNJ1	c.*1085C>G	-	3-UTRSNV	32/32	-
X-19764478-A-G	SH3KBP1	c.244T>C	p.Ser82Pro	Missense	3/18	-
X-19610262-G-A	SH3KBP1	c.1061C>T	p.Thr354Ile	Missense	11/18	-
21-34003704-G-A	SYNJ1	c.4440C>T	p.Phe1480Phe	Synonymous	32/32	-
11-85685772-A-C	PICALM	c.1923T>G	p.Phe641Leu	Missense	19/20	-
X-19725023-G-A	SH3KBP1	c.366C>T	p.Gly122Gly	Synonymous	4/18	-
21-34002233-G-A	SYNJ1	c.*1072C>T	-	3-UTRSNV	32/32	-
21-34045813-A-G	SYNJ1	c.1680T>C	p.Cys560Cys	Synonymous	14/32	-
21-34011326-T-G	SYNJ1	c.3924A>C	p.Ala1308Ala	Synonymous	31/32	-
14-73653573-T-G	PSEN1	c.493T>G	p.Trp165Gly	Missense	6/12	-
11-85669927-C-T	PICALM	c.*162G>A	-	3-UTRSNV	20/20	-
21-34059352-T-C	SYNJ1	c.1001A>G	p.Lys334Arg	Missense	8/32	-
X-19702135-T-C	SH3KBP1	c.532A>G	p.Thr178Ala	Missense	6/18	-
21-34100298-G-A	SYNJ1	c.54C>T	p.Gly18Gly	Synonymous	1/32	-
21-34038854-T-G	SYNJ1	c.1958A>C	p.Glu653Ala	Missense	16/32	-
21-34045708-C-T	SYNJ1	c.1785G>A	p.Gln595Gln	Synonymous	14/32	-
21-34100298-G-T	SYNJ1	c.54C>A	p.Gly18Gly	Synonymous	1/32	-
21-34037389-C-T	SYNJ1	c.2263-8G>A	-	IntronicSNV	-	17/31
21-34018754-T-C	SYNJ1	c.3313A>G	p.Ile1105Val	Missense	24/32	-
X-19764497-G-C	SH3KBP1	c.225C>G	p.His75Gln	Missense	3/18	-
21-34025593-C-T	SYNJ1	c.2991+5G>A	-	IntronicSNV	-	22/31
11-85711692-G-A	PICALM	c.1148C>T	p.Ser383Phe	Missense	11/20	-
11-85779745-T-C	PICALM	c.78A>G	p.Val26Val	Synonymous	1/20	-
21-34022522-T-C	SYNJ1	c.3126A>G	p.Ala1042Ala	Synonymous	23/32	-
21-34003938-T-A	SYNJ1	c.4206A>T	p.Gln1402His	Missense	32/32	-
21-34003542-C-T	SYNJ1	c.4602G>A	p.Lys1534Lys	Synonymous	32/32	-
X-19560083-C-T	SH3KBP1	c.1852G>A	p.Glu618Lys	Missense	16/18	-
11-85718611-T-C	PICALM	c.781A>G	p.Arg261Gly	Missense	8/20	-
21-34001824-T-C	SYNJ1	c.*1481A>G	-	3-UTRSNV	32/32	-
21-34012092-A-T	SYNJ1	c.3706-3T>A	-	IntronicSNV	-	29/31
11-85692907-C-T	PICALM	c.1648+8G>A	-	IntronicSNV	-	15/19
11-85670100-G-C	PICALM	c.1948C>G	p.Gln650Glu	Missense	20/20	-
11-85692221-T-G	PICALM	c.1730A>C	p.Asn577Thr	Missense	17/20	-
11-85779859-C-T	PICALM	c.1-37G>A	-	5-UTRSNV	1/20	-
21-34002226-G-C	SYNJ1	c.*1079C>G	-	3-UTRSNV	32/32	-
11-85685823-C-T	PICALM	c.1872G>A	p.Thr624Thr	Synonymous	19/20	-
11-85670094-T-A	PICALM	c.1954A>T	p.Met652Leu	Missense	20/20	-
11-85707936-C-T	PICALM	c.1191G>A	p.Gln397Gln	Synonymous	12/20	-
X-19702075-C-T	SH3KBP1	c.592G>A	p.Gly198Arg	Missense	6/18	-
21-34002213-T-C	SYNJ1	c.*1092A>G	-	3-UTRSNV	32/32	-
11-85711729-C-G	PICALM	c.1111G>C	p.Ala371Pro	Missense	11/20	-
21-34038740-G-T	SYNJ1	c.2069+3C>A	-	IntronicSNV	-	16/31
11-85707959-G-A	PICALM	c.1168C>T	p.Pro390Ser	Missense	12/20	-
X-19606849-G-A	SH3KBP1	c.1210C>T	p.Arg404Trp	Missense	12/18	-
21-34003502-T-G	SYNJ1	c.4642A>C	p.Ser1548Arg	Missense	32/32	-
21-34017296-T-G	SYNJ1	c.3529A>C	p.Thr1177Pro	Missense	26/32	-
X-19606849-G-T	SH3KBP1	c.1210C>A	p.Arg404Arg	Synonymous	12/18	-
21-34025672-C-T	SYNJ1	c.2917G>A	p.Val973Ile	Missense	22/32	-
21-34072243-A-G	SYNJ1	c.501T>C	p.Phe167Phe	Synonymous	4/32	-
11-85722134-T-A	PICALM	c.704A>T	p.Asp235Val	Missense	7/20	-
11-85742532-A-C	PICALM	c.252T>G	p.His84Gln	Missense	2/20	-
X-19905583-C-G	SH3KBP1	c.1-155G>C	-	5-UTRSNV	1/18	-
X-19560162-G-A	SH3KBP1	c.1773C>T	p.Phe591Phe	Synonymous	16/18	-
11-85692200-G-T	PICALM	c.1751C>A	p.Pro584Gln	Missense	17/20	-
21-34067475-C-T	SYNJ1	c.714G>A	p.Ala238Ala	Synonymous	5/32	-
21-34022550-G-T	SYNJ1	c.3098C>A	p.Thr1033Lys	Missense	23/32	-
11-85701445-G-T	PICALM	c.1259-3C>A	-	IntronicSNV	-	12/19
21-34003575-G-A	SYNJ1	c.4569C>T	p.Phe1523Phe	Synonymous	32/32	-
X-19560249-C-T	SH3KBP1	c.1686G>A	p.Gly562Gly	Synonymous	16/18	-
21-34099174-G-C	SYNJ1	c.150C>G	p.His50Gln	Missense	2/32	-
21-34099130-T-A	SYNJ1	c.194A>T	p.His65Leu	Missense	2/32	-
11-85733418-C-T	PICALM	c.444G>A	p.Val148Val	Synonymous	4/20	-
21-34099130-T-G	SYNJ1	c.194A>C	p.His65Pro	Missense	2/32	-
21-34003803-G-A	SYNJ1	c.4341C>T	p.Asp1447Asp	Synonymous	32/32	-
21-34003411-G-A	SYNJ1	c.4733C>T	p.Pro1578Leu	Missense	32/32	-
21-34100307-G-C	SYNJ1	c.45C>G	p.Gly15Gly	Synonymous	1/32	-
X-19626078-G-A	SH3KBP1	c.983C>T	p.Pro328Leu	Missense	9/18	-
21-34045841-G-A	SYNJ1	c.1652C>T	p.Ala551Val	Missense	14/32	-
21-34100307-G-A	SYNJ1	c.45C>T	p.Gly15Gly	Synonymous	1/32	-
21-34059281-T-C	SYNJ1	c.1065+7A>G	-	IntronicSNV	-	8/31
21-34045697-T-C	SYNJ1	c.1796A>G	p.Asp599Gly	Missense	14/32	-
11-85723398-G-A	PICALM	c.584C>T	p.Ala195Val	Missense	6/20	-
21-34015775-G-T	SYNJ1	c.3548-8C>A	-	IntronicSNV	-	26/31
X-19564139-G-A	SH3KBP1	c.1524C>T	p.Asp508Asp	Synonymous	15/18	-
X-19560111-G-C	SH3KBP1	c.1824C>G	p.Ala608Ala	Synonymous	16/18	-
11-85701430-G-A	PICALM	c.1271C>T	p.Ala424Val	Missense	13/20	-
21-34030022-C-T	SYNJ1	c.2578+4G>A	-	IntronicSNV	-	19/31
21-34018745-T-C	SYNJ1	c.3322A>G	p.Ser1108Gly	Missense	24/32	-
21-34011353-C-A	SYNJ1	c.3897G>T	p.Leu1299Phe	Missense	31/32	-
11-85723382-C-A	PICALM	c.600G>T	p.Leu200Leu	Synonymous	6/20	-
11-85712192-T-C	PICALM	c.903A>G	p.Thr301Thr	Synonymous	10/20	-
21-34037333-T-C	SYNJ1	c.2311A>G	p.Asn771Asp	Missense	18/32	-
21-34099133-C-G	SYNJ1	c.191G>C	p.Arg64Thr	Missense	2/32	-
21-34074296-G-C	SYNJ1	c.303C>G	p.Leu101Leu	Synonymous	3/32	-
X-19564142-G-A	SH3KBP1	c.1521C>T	p.Phe507Phe	Synonymous	15/18	-
21-34002069-A-G	SYNJ1	c.*1236T>C	-	3-UTRSNV	32/32	-
11-85692251-G-A	PICALM	c.1700C>T	p.Pro567Leu	Missense	17/20	-
X-19560111-G-A	SH3KBP1	c.1824C>T	p.Ala608Ala	Synonymous	16/18	-
X-19560139-A-G	SH3KBP1	c.1796T>C	p.Met599Thr	Missense	16/18	-
21-34038445-C-T	SYNJ1	c.2070G>A	p.Arg690Arg	Synonymous	17/32	-
21-34017321-T-C	SYNJ1	c.3509-5A>G	-	IntronicSNV	-	25/31
21-34017321-T-A	SYNJ1	c.3509-5A>T	-	IntronicSNV	-	25/31
21-34074320-G-C	SYNJ1	c.279C>G	p.Ser93Ser	Synonymous	3/32	-
21-34001107-C-T	SYNJ1	c.*2198G>A	-	3-UTRSNV	32/32	-
X-19663541-G-A	SH3KBP1	c.779C>T	p.Thr260Ile	Missense	7/18	-
21-34003382-C-T	SYNJ1	c.4762G>A	p.Gly1588Ser	Missense	32/32	-
21-34011215-T-A	SYNJ1	c.4032+3A>T	-	IntronicSNV	-	31/31
21-34029188-T-C	SYNJ1	c.2721A>G	p.Ile907Met	Missense	21/32	-
21-34003574-C-T	SYNJ1	c.4570G>A	p.Glu1524Lys	Missense	32/32	-
X-19560236-A-T	SH3KBP1	c.1699T>A	p.Ser567Thr	Missense	16/18	-
21-34003845-G-A	SYNJ1	c.4299C>T	p.Asn1433Asn	Synonymous	32/32	-
21-34014207-G-A	SYNJ1	c.3704C>T	p.Pro1235Leu	Missense	29/32	-
21-34003915-C-T	SYNJ1	c.4229G>A	p.Ser1410Asn	Missense	32/32	-
11-85711800-G-C	PICALM	c.1040C>G	p.Ala347Gly	Missense	11/20	-
21-34056372-A-G	SYNJ1	c.1293T>C	p.Ser431Ser	Synonymous	10/32	-
X-19560129-C-T	SH3KBP1	c.1806G>A	p.Ala602Ala	Synonymous	16/18	-
21-34029161-C-G	SYNJ1	c.2748G>C	p.Glu916Asp	Missense	21/32	-
11-85685793-G-A	PICALM	c.1902C>T	p.Val634Val	Synonymous	19/20	-
11-85685793-G-C	PICALM	c.1902C>G	p.Val634Val	Synonymous	19/20	-
21-34056354-G-A	SYNJ1	c.1311C>T	p.Gly437Gly	Synonymous	10/32	-
X-19626050-A-G	SH3KBP1	c.1005+6T>C	-	IntronicSNV	-	9/17
21-34003297-G-A	SYNJ1	c.*8C>T	-	3-UTRSNV	32/32	-
21-34014432-G-A	SYNJ1	c.3607C>T	p.Pro1203Ser	Missense	28/32	-
11-85692946-G-A	PICALM	c.1617C>T	p.Asp539Asp	Synonymous	15/20	-
11-85693050-A-G	PICALM	c.1517-4T>C	-	IntronicSNV	-	14/19
21-34017324-T-A	SYNJ1	c.3509-8A>T	-	IntronicSNV	-	25/31
21-34018105-A-C	SYNJ1	c.3365-6T>G	-	IntronicSNV	-	24/31
21-34018105-A-G	SYNJ1	c.3365-6T>C	-	IntronicSNV	-	24/31
21-34099201-C-A	SYNJ1	c.123G>T	p.Ala41Ala	Synonymous	2/32	-
21-34072295-G-A	SYNJ1	c.449C>T	p.Ser150Leu	Missense	4/32	-
21-34022522-T-G	SYNJ1	c.3126A>C	p.Ala1042Ala	Synonymous	23/32	-
21-34029351-C-A	SYNJ1	c.2658G>T	p.Leu886Leu	Synonymous	20/32	-
X-19587303-A-G	SH3KBP1	c.1302T>C	p.Gly434Gly	Synonymous	13/18	-
21-34050984-C-T	SYNJ1	c.1598G>A	p.Arg533Gln	Missense	12/32	-
X-19725101-G-A	SH3KBP1	c.288C>T	p.Gly96Gly	Synonymous	4/18	-
21-34003927-A-G	SYNJ1	c.4217T>C	p.Leu1406Ser	Missense	32/32	-
21-34002114-G-A	SYNJ1	c.*1191C>T	-	3-UTRSNV	32/32	-
X-19564147-T-C	SH3KBP1	c.1516A>G	p.Ile506Val	Missense	15/18	-
X-19587217-T-C	SH3KBP1	c.1384+4A>G	-	IntronicSNV	-	13/17
21-34002029-G-A	SYNJ1	c.*1276C>T	-	3-UTRSNV	32/32	-
21-34002029-G-C	SYNJ1	c.*1276C>G	-	3-UTRSNV	32/32	-
X-19854376-T-C	SH3KBP1	c.29A>G	p.Tyr10Cys	Missense	2/18	-
X-19626104-G-A	SH3KBP1	c.957C>T	p.Pro319Pro	Synonymous	9/18	-
21-34004106-T-C	SYNJ1	c.4038A>G	p.Lys1346Lys	Synonymous	32/32	-
11-85695020-A-G	PICALM	c.1409-4T>C	-	IntronicSNV	-	13/19
21-34007190-T-C	SYNJ1	c.4033-3079A>G	-	IntronicSNV	-	31/31
11-85726006-C-G	PICALM	c.453G>C	p.Gly151Gly	Synonymous	5/20	-
X-19764501-A-C	SH3KBP1	c.221T>G	p.Leu74Arg	Missense	3/18	-
21-34011345-G-A	SYNJ1	c.3905C>T	p.Pro1302Leu	Missense	31/32	-
X-19610247-T-C	SH3KBP1	c.1076A>G	p.His359Arg	Missense	11/18	-
21-34059340-A-G	SYNJ1	c.1013T>C	p.Val338Ala	Missense	8/32	-
11-85723325-C-A	PICALM	c.657G>T	p.Leu219Phe	Missense	6/20	-
11-85711768-C-G	PICALM	c.1072G>C	p.Ala358Pro	Missense	11/20	-
21-34002154-C-T	SYNJ1	c.*1151G>A	-	3-UTRSNV	32/32	-
14-73678630-C-G	PSEN1	c.1109C>G	p.Ala370Gly	Missense	10/12	-
21-34003883-G-A	SYNJ1	c.4261C>T	p.Arg1421Trp	Missense	32/32	-
11-85726006-C-T	PICALM	c.453G>A	p.Gly151Gly	Synonymous	5/20	-
21-34015735-T-C	SYNJ1	c.3580A>G	p.Arg1194Gly	Missense	27/32	-
11-85685838-A-G	PICALM	c.1857T>C	p.Ser619Ser	Synonymous	19/20	-
X-19764501-A-G	SH3KBP1	c.221T>C	p.Leu74Pro	Missense	3/18	-
21-34011222-G-A	SYNJ1	c.4028C>T	p.Pro1343Leu	Missense	31/32	-
21-34066616-C-T	SYNJ1	c.828G>A	p.Val276Val	Synonymous	6/32	-
21-34002592-T-G	SYNJ1	c.*713A>C	-	3-UTRSNV	32/32	-
21-34002592-T-C	SYNJ1	c.*713A>G	-	3-UTRSNV	32/32	-
X-19713796-T-C	SH3KBP1	c.454A>G	p.Ile152Val	Missense	5/18	-
11-85701340-T-C	PICALM	c.1361A>G	p.Asp454Gly	Missense	13/20	-
11-85701414-A-G	PICALM	c.1287T>C	p.Val429Val	Synonymous	13/20	-
11-85701414-A-C	PICALM	c.1287T>G	p.Val429Val	Synonymous	13/20	-
21-34011222-G-C	SYNJ1	c.4028C>G	p.Pro1343Arg	Missense	31/32	-
11-85693046-C-G	PICALM	c.1517G>C	p.Gly506Ala	Missense	15/20	-
11-85779769-G-A	PICALM	c.54C>T	p.Thr18Thr	Synonymous	1/20	-
11-85711793-T-A	PICALM	c.1047A>T	p.Lys349Asn	Missense	11/20	-
21-34014207-G-C	SYNJ1	c.3704C>G	p.Pro1235Arg	Missense	29/32	-
21-34037286-T-C	SYNJ1	c.2358A>G	p.Arg786Arg	Synonymous	18/32	-
X-19713835-C-T	SH3KBP1	c.415G>A	p.Val139Ile	Missense	5/18	-
21-34038245-G-A	SYNJ1	c.2262+8C>T	-	IntronicSNV	-	17/31
X-19650076-C-T	SH3KBP1	c.803G>A	p.Ser268Asn	Missense	8/18	-
11-85701449-A-T	PICALM	c.1259-7T>A	-	IntronicSNV	-	12/19
21-34029350-G-A	SYNJ1	c.2659C>T	p.His887Tyr	Missense	20/32	-
21-34001697-T-C	SYNJ1	c.*1608A>G	-	3-UTRSNV	32/32	-
X-19606784-C-A	SH3KBP1	c.1275G>T	p.Pro425Pro	Synonymous	12/18	-
21-34003375-C-T	SYNJ1	c.4769G>A	p.Ser1590Asn	Missense	32/32	-
X-19610189-T-G	SH3KBP1	c.1134A>C	p.Glu378Asp	Missense	11/18	-
X-19626077-C-T	SH3KBP1	c.984G>A	p.Pro328Pro	Synonymous	9/18	-
X-19553482-C-T	SH3KBP1	c.*1053G>A	-	3-UTRSNV	18/18	-
11-85692958-T-G	PICALM	c.1605A>C	p.Leu535Phe	Missense	15/20	-
11-85701449-A-G	PICALM	c.1259-7T>C	-	IntronicSNV	-	12/19
21-34001750-G-A	SYNJ1	c.*1555C>T	-	3-UTRSNV	32/32	-
21-34045726-G-T	SYNJ1	c.1767C>A	p.Ser589Arg	Missense	14/32	-
21-34038871-C-T	SYNJ1	c.1941G>A	p.Gln647Gln	Synonymous	16/32	-
X-19854390-T-A	SH3KBP1	c.15A>T	p.Ile5Ile	Synonymous	2/18	-
21-34003425-C-T	SYNJ1	c.4719G>A	p.Pro1573Pro	Synonymous	32/32	-
11-85692198-T-C	PICALM	c.1753A>G	p.Thr585Ala	Missense	17/20	-
21-34003611-T-C	SYNJ1	c.4533A>G	p.Thr1511Thr	Synonymous	32/32	-
21-34003611-T-A	SYNJ1	c.4533A>T	p.Thr1511Thr	Synonymous	32/32	-
21-34099108-G-C	SYNJ1	c.216C>G	p.Phe72Leu	Missense	2/32	-
21-34029308-TA-TATA	SYNJ1	c.2696+4_2696+5dup	-	IntronicInsertion	-	20/31
21-34022662-G-A	SYNJ1	c.2992-6C>T	-	IntronicSNV	-	22/31
X-19610189-T-C	SH3KBP1	c.1134A>G	p.Glu378Glu	Synonymous	11/18	-
21-34002365-T-C	SYNJ1	c.*940A>G	-	3-UTRSNV	32/32	-
21-34029345-A-G	SYNJ1	c.2664T>C	p.Tyr888Tyr	Synonymous	20/32	-
11-85669951-C-T	PICALM	c.*138G>A	-	3-UTRSNV	20/20	-
X-19587279-G-A	SH3KBP1	c.1326C>T	p.Ala442Ala	Synonymous	13/18	-
X-19552522-C-T	SH3KBP1	c.*2013G>A	-	3-UTRSNV	18/18	-
21-34018800-G-C	SYNJ1	c.3267C>G	p.Pro1089Pro	Synonymous	24/32	-
X-19560319-G-A	SH3KBP1	c.1624-8C>T	-	IntronicSNV	-	15/17
X-19552947-A-C	SH3KBP1	c.*1588T>G	-	3-UTRSNV	18/18	-
11-85694974-C-G	PICALM	c.1451G>C	p.Gly484Ala	Missense	14/20	-
21-34038402-T-C	SYNJ1	c.2113A>G	p.Thr705Ala	Missense	17/32	-
11-85694974-C-T	PICALM	c.1451G>A	p.Gly484Asp	Missense	14/20	-
11-85726004-G-C	PICALM	c.455C>G	p.Ala152Gly	Missense	5/20	-
21-34030052-C-T	SYNJ1	c.2552G>A	p.Arg851Lys	Missense	19/32	-
X-19613091-C-G	SH3KBP1	c.1033G>C	p.Ala345Pro	Missense	10/18	-
21-34003665-A-G	SYNJ1	c.4479T>C	p.Ala1493Ala	Synonymous	32/32	-
21-34011381-G-C	SYNJ1	c.3869C>G	p.Ser1290Cys	Missense	31/32	-
X-19613091-C-T	SH3KBP1	c.1033G>A	p.Ala345Thr	Missense	10/18	-
21-34053940-C-T	SYNJ1	c.1336G>A	p.Glu446Lys	Missense	11/32	-
21-34003352-T-C	SYNJ1	c.4792A>G	p.Thr1598Ala	Missense	32/32	-
21-34003396-G-A	SYNJ1	c.4748C>T	p.Pro1583Leu	Missense	32/32	-
21-34038364-G-A	SYNJ1	c.2151C>T	p.Phe717Phe	Synonymous	17/32	-
11-85694979-T-G	PICALM	c.1446A>C	p.Ser482Ser	Synonymous	14/20	-
21-34038430-A-G	SYNJ1	c.2085T>C	p.Asp695Asp	Synonymous	17/32	-
X-19606874-A-G	SH3KBP1	c.1185T>C	p.Val395Val	Synonymous	12/18	-
11-85711695-G-A	PICALM	c.1145C>T	p.Ser382Phe	Missense	11/20	-
21-34017281-C-T	SYNJ1	c.3544G>A	p.Gly1182Arg	Missense	26/32	-
11-85779929-T-C	PICALM	c.1-107A>G	-	5-UTRSNV	1/20	-
21-34029206-G-A	SYNJ1	c.2703C>T	p.Val901Val	Synonymous	21/32	-
21-34067561-A-G	SYNJ1	c.628T>C	p.Tyr210His	Missense	5/32	-
21-34045650-C-A	SYNJ1	c.1843G>T	p.Asp615Tyr	Missense	14/32	-
X-19553915-G-T	SH3KBP1	c.*620C>A	-	3-UTRSNV	18/18	-
11-85712098-C-T	PICALM	c.997G>A	p.Ala333Thr	Missense	10/20	-
11-85779815-C-T	PICALM	c.8G>A	p.Gly3Asp	Missense	1/20	-
21-34017963-C-T	SYNJ1	c.3501G>A	p.Pro1167Pro	Synonymous	25/32	-
11-85701381-G-A	PICALM	c.1320C>T	p.Leu440Leu	Synonymous	13/20	-
21-34002226-G-A	SYNJ1	c.*1079C>T	-	3-UTRSNV	32/32	-
21-34099111-C-A	SYNJ1	c.213G>T	p.Met71Ile	Missense	2/32	-
21-34099111-C-T	SYNJ1	c.213G>A	p.Met71Ile	Missense	2/32	-
21-34029084-G-A	SYNJ1	c.2825C>T	p.Ser942Phe	Missense	21/32	-
X-19560072-G-T	SH3KBP1	c.1863C>A	p.Ser621Arg	Missense	16/18	-
11-85733487-C-G	PICALM	c.375G>C	p.Arg125Ser	Missense	4/20	-
21-34018001-G-T	SYNJ1	c.3463C>A	p.Pro1155Thr	Missense	25/32	-
11-85692788-T-C	PICALM	c.1679A>G	p.Asn560Ser	Missense	16/20	-
11-85779826-T-C	PICALM	c.1-4A>G	-	5-UTRSNV	1/20	-
21-34001638-C-T	SYNJ1	c.*1667G>A	-	3-UTRSNV	32/32	-
X-19552625-A-G	SH3KBP1	c.*1910T>C	-	3-UTRSNV	18/18	-
21-34001638-C-A	SYNJ1	c.*1667G>T	-	3-UTRSNV	32/32	-
21-34001585-C-G	SYNJ1	c.*1720G>C	-	3-UTRSNV	32/32	-
11-85779729-G-C	PICALM	c.94C>G	p.His32Asp	Missense	1/20	-
21-34066592-G-T	SYNJ1	c.852C>A	p.Ser284Ser	Synonymous	6/32	-
21-34017965-G-T	SYNJ1	c.3499C>A	p.Pro1167Thr	Missense	25/32	-
21-34067589-A-C	SYNJ1	c.600T>G	p.Asn200Lys	Missense	5/32	-
X-19568152-A-G	SH3KBP1	c.1434T>C	p.His478His	Synonymous	14/18	-
11-85687683-T-C	PICALM	c.1822A>G	p.Met608Val	Missense	18/20	-
11-85694978-C-A	PICALM	c.1447G>T	p.Ala483Ser	Missense	14/20	-
X-19553884-A-T	SH3KBP1	c.*651T>A	-	3-UTRSNV	18/18	-
X-19568110-C-T	SH3KBP1	c.1476G>A	p.Pro492Pro	Synonymous	14/18	-
X-19555847-C-T	SH3KBP1	c.1944G>A	p.Arg648Arg	Synonymous	17/18	-
21-34067360-T-C	SYNJ1	c.822+7A>G	-	IntronicSNV	-	5/31
X-19606793-C-T	SH3KBP1	c.1266G>A	p.Pro422Pro	Synonymous	12/18	-
21-34048669-T-C	SYNJ1	c.1628-4A>G	-	IntronicSNV	-	12/31
21-34099100-C-T	SYNJ1	c.224G>A	p.Gly75Glu	Missense	2/32	-
21-34099100-C-A	SYNJ1	c.224G>T	p.Gly75Val	Missense	2/32	-
21-34014283-C-A	SYNJ1	c.3635-7G>T	-	IntronicSNV	-	28/31
11-85742565-C-G	PICALM	c.219G>C	p.Val73Val	Synonymous	2/20	-
21-34012064-A-G	SYNJ1	c.3731T>C	p.Ile1244Thr	Missense	30/32	-
21-34001565-T-C	SYNJ1	c.*1740A>G	-	3-UTRSNV	32/32	-
X-19854264-C-A	SH3KBP1	c.141G>T	p.Leu47Phe	Missense	2/18	-
21-34012087-C-T	SYNJ1	c.3708G>A	p.Thr1236Thr	Synonymous	30/32	-
21-34038355-G-C	SYNJ1	c.2160C>G	p.Thr720Thr	Synonymous	17/32	-
21-34067530-C-T	SYNJ1	c.659G>A	p.Arg220His	Missense	5/32	-
21-34003795-G-A	SYNJ1	c.4349C>T	p.Ala1450Val	Missense	32/32	-
11-85742565-C-T	PICALM	c.219G>A	p.Val73Val	Synonymous	2/20	-
21-34072303-G-A	SYNJ1	c.441C>T	p.Ile147Ile	Synonymous	4/32	-
11-85725923-A-G	PICALM	c.536T>C	p.Leu179Pro	Missense	5/20	-
21-34066600-C-A	SYNJ1	c.844G>T	p.Val282Phe	Missense	6/32	-
21-34066600-C-T	SYNJ1	c.844G>A	p.Val282Ile	Missense	6/32	-
21-34017950-T-G	SYNJ1	c.3508+6A>C	-	IntronicSNV	-	25/31
21-34003354-G-A	SYNJ1	c.4790C>T	p.Thr1597Met	Missense	32/32	-
21-34003044-A-G	SYNJ1	c.*261T>C	-	3-UTRSNV	32/32	-
11-85692193-G-A	PICALM	c.1758C>T	p.Thr586Thr	Synonymous	17/20	-
11-85779719-A-G	PICALM	c.104T>C	p.Met35Thr	Missense	1/20	-
11-85692180-C-T	PICALM	c.1771G>A	p.Ala591Thr	Missense	17/20	-
X-19713796-T-G	SH3KBP1	c.454A>C	p.Ile152Leu	Missense	5/18	-
21-34018908-A-T	SYNJ1	c.3159T>A	p.Asp1053Glu	Missense	24/32	-
21-34059347-T-C	SYNJ1	c.1006A>G	p.Ile336Val	Missense	8/32	-
21-34099160-G-A	SYNJ1	c.164C>T	p.Pro55Leu	Missense	2/32	-
X-19552469-G-T	SH3KBP1	c.*2066C>A	-	3-UTRSNV	18/18	-
21-34038317-T-G	SYNJ1	c.2198A>C	p.Gln733Pro	Missense	17/32	-
X-19713839-T-C	SH3KBP1	c.411A>G	p.Glu137Glu	Synonymous	5/18	-
X-19552901-G-A	SH3KBP1	c.*1634C>T	-	3-UTRSNV	18/18	-
21-34067471-C-A	SYNJ1	c.718G>T	p.Ala240Ser	Missense	5/32	-
21-34017969-A-T	SYNJ1	c.3495T>A	p.Pro1165Pro	Synonymous	25/32	-
21-34003929-A-AGTAATA	SYNJ1	c.4215_4216insATTACT	p.Val1405_leu1406insIlethr	InFrameInsertion	32/32	-
21-34022622-C-G	SYNJ1	c.3026G>C	p.Ser1009Thr	Missense	23/32	-
21-34003745-A-T	SYNJ1	c.4399T>A	p.Ser1467Thr	Missense	32/32	-
X-19606925-A-C	SH3KBP1	c.1139-5T>G	-	IntronicSNV	-	11/17
21-34045675-C-G	SYNJ1	c.1818G>C	p.Lys606Asn	Missense	14/32	-
11-85723400-A-G	PICALM	c.582T>C	p.Asn194Asn	Synonymous	6/20	-
11-85712144-G-A	PICALM	c.951C>T	p.Thr317Thr	Synonymous	10/20	-
21-34099086-G-A	SYNJ1	c.238C>T	p.Leu80Phe	Missense	2/32	-
11-85712144-G-C	PICALM	c.951C>G	p.Thr317Thr	Synonymous	10/20	-
21-34003928-A-G	SYNJ1	c.4216T>C	p.Leu1406Leu	Synonymous	32/32	-
21-34002004-T-A	SYNJ1	c.*1301A>T	-	3-UTRSNV	32/32	-
21-34015763-A-G	SYNJ1	c.3552T>C	p.Ile1184Ile	Synonymous	27/32	-
11-85694978-C-G	PICALM	c.1447G>C	p.Ala483Pro	Missense	14/20	-
21-34072278-A-G	SYNJ1	c.466T>C	p.Ser156Pro	Missense	4/32	-
21-34003824-G-C	SYNJ1	c.4320C>G	p.Thr1440Thr	Synonymous	32/32	-
21-34018811-G-C	SYNJ1	c.3256C>G	p.Arg1086Gly	Missense	24/32	-
X-19554492-T-G	SH3KBP1	c.*43A>C	-	3-UTRSNV	18/18	-
21-34017964-G-T	SYNJ1	c.3500C>A	p.Pro1167Gln	Missense	25/32	-
21-34017964-G-C	SYNJ1	c.3500C>G	p.Pro1167Arg	Missense	25/32	-
21-34003301-G-T	SYNJ1	c.*4C>A	-	3-UTRSNV	32/32	-
21-34038826-G-C	SYNJ1	c.1986C>G	p.Asn662Lys	Missense	16/32	-
21-34037263-A-G	SYNJ1	c.2381T>C	p.Ile794Thr	Missense	18/32	-
21-34051038-A-G	SYNJ1	c.1544T>C	p.Ile515Thr	Missense	12/32	-
21-34011297-T-C	SYNJ1	c.3953A>G	p.Asn1318Ser	Missense	31/32	-
21-34022661-C-T	SYNJ1	c.2992-5G>A	-	IntronicSNV	-	22/31
21-34037270-A-G	SYNJ1	c.2374T>C	p.Ser792Pro	Missense	18/32	-
21-34003210-A-AAA	SYNJ1	c.4839+95_4839+96insTT	-	3-UTRInsertion	32/32	-
21-34053921-T-C	SYNJ1	c.1355A>G	p.Glu452Gly	Missense	11/32	-
X-19606859-T-C	SH3KBP1	c.1200A>G	p.Pro400Pro	Synonymous	12/18	-
21-34012076-C-T	SYNJ1	c.3719G>A	p.Arg1240His	Missense	30/32	-
21-34045799-T-C	SYNJ1	c.1694A>G	p.Lys565Arg	Missense	14/32	-
11-85692810-T-C	PICALM	c.1657A>G	p.Ile553Val	Missense	16/20	-
21-34045698-C-G	SYNJ1	c.1795G>C	p.Asp599His	Missense	14/32	-
21-34003926-C-T	SYNJ1	c.4218G>A	p.Leu1406Leu	Synonymous	32/32	-
21-34048673-T-A	SYNJ1	c.1628-8A>T	-	IntronicSNV	-	12/31
21-34018000-G-A	SYNJ1	c.3464C>T	p.Pro1155Leu	Missense	25/32	-
21-34056342-T-G	SYNJ1	c.1317+6A>C	-	IntronicSNV	-	10/31
21-34056342-T-C	SYNJ1	c.1317+6A>G	-	IntronicSNV	-	10/31
21-34060656-T-C	SYNJ1	c.928A>G	p.Met310Val	Missense	7/32	-
X-19702006-C-T	SH3KBP1	c.661G>A	p.Asp221Asn	Missense	6/18	-
21-34029387-G-T	SYNJ1	c.2622C>A	p.Ser874Arg	Missense	20/32	-
11-85692965-C-T	PICALM	c.1598G>A	p.Ser533Asn	Missense	15/20	-
21-34018713-G-A	SYNJ1	c.3354C>T	p.Pro1118Pro	Synonymous	24/32	-
21-34003405-G-A	SYNJ1	c.4739C>T	p.Pro1580Leu	Missense	32/32	-
21-34029372-C-T	SYNJ1	c.2637G>A	p.Thr879Thr	Synonymous	20/32	-
21-34018722-A-G	SYNJ1	c.3345T>C	p.Pro1115Pro	Synonymous	24/32	-
21-34003353-C-T	SYNJ1	c.4791G>A	p.Thr1597Thr	Synonymous	32/32	-
11-85701307-T-C	PICALM	c.1394A>G	p.His465Arg	Missense	13/20	-
21-34038427-A-G	SYNJ1	c.2088T>C	p.Thr696Thr	Synonymous	17/32	-
11-85694998-A-G	PICALM	c.1427T>C	p.Val476Ala	Missense	14/20	-
X-19854348-C-G	SH3KBP1	c.57G>C	p.Thr19Thr	Synonymous	2/18	-
21-34011267-C-G	SYNJ1	c.3983G>C	p.Arg1328Pro	Missense	31/32	-
21-34011267-C-T	SYNJ1	c.3983G>A	p.Arg1328Gln	Missense	31/32	-
X-19553125-A-G	SH3KBP1	c.*1410T>C	-	3-UTRSNV	18/18	-
21-34003929-A-AGTACTA	SYNJ1	c.4215_4216insAGTACT	p.Val1405_leu1406insSerthr	InFrameInsertion	32/32	-
21-34003625-G-A	SYNJ1	c.4519C>T	p.Gln1507*	Nonsense	32/32	-
X-19587259-A-T	SH3KBP1	c.1346T>A	p.Ile449Asn	Missense	13/18	-
11-85742523-C-T	PICALM	c.261G>A	p.Val87Val	Synonymous	2/20	-
21-34014243-G-A	SYNJ1	c.3668C>T	p.Ala1223Val	Missense	29/32	-
21-34029368-T-C	SYNJ1	c.2641A>G	p.Thr881Ala	Missense	20/32	-
X-19560254-C-A	SH3KBP1	c.1681G>T	p.Gly561Cys	Missense	16/18	-
21-34056355-C-T	SYNJ1	c.1310G>A	p.Gly437Asp	Missense	10/32	-
X-19725088-G-C	SH3KBP1	c.301C>G	p.Arg101Gly	Missense	4/18	-
X-19553553-T-C	SH3KBP1	c.*982A>G	-	3-UTRSNV	18/18	-
21-34018898-A-G	SYNJ1	c.3169T>C	p.Tyr1057His	Missense	24/32	-
21-34003394-G-A	SYNJ1	c.4750C>T	p.Leu1584Leu	Synonymous	32/32	-
X-19560172-G-A	SH3KBP1	c.1763C>T	p.Pro588Leu	Missense	16/18	-
X-19764525-G-C	SH3KBP1	c.197C>G	p.Thr66Ser	Missense	3/18	-
X-19713774-G-A	SH3KBP1	c.476C>T	p.Ser159Leu	Missense	5/18	-
21-34017298-G-A	SYNJ1	c.3527C>T	p.Pro1176Leu	Missense	26/32	-
21-34053917-C-T	SYNJ1	c.1359G>A	p.Lys453Lys	Synonymous	11/32	-
X-19626095-G-A	SH3KBP1	c.966C>T	p.Phe322Phe	Synonymous	9/18	-
21-34003641-C-T	SYNJ1	c.4503G>A	p.Lys1501Lys	Synonymous	32/32	-
X-19587259-A-G	SH3KBP1	c.1346T>C	p.Ile449Thr	Missense	13/18	-
11-85714487-C-T	PICALM	c.815G>A	p.Ser272Asn	Missense	9/20	-
21-34003909-A-G	SYNJ1	c.4235T>C	p.Met1412Thr	Missense	32/32	-
21-34011260-C-A	SYNJ1	c.3990G>T	p.Arg1330Ser	Missense	31/32	-
21-34042681-A-G	SYNJ1	c.1845T>C	p.Asp615Asp	Synonymous	15/32	-
X-19560254-C-T	SH3KBP1	c.1681G>A	p.Gly561Ser	Missense	16/18	-
X-19553611-G-C	SH3KBP1	c.*924C>G	-	3-UTRSNV	18/18	-
11-85685782-G-C	PICALM	c.1913C>G	p.Pro638Arg	Missense	19/20	-
21-34011325-G-T	SYNJ1	c.3925C>A	p.Pro1309Thr	Missense	31/32	-
11-85742601-G-A	PICALM	c.183C>T	p.Asp61Asp	Synonymous	2/20	-
21-34018898-A-C	SYNJ1	c.3169T>G	p.Tyr1057Asp	Missense	24/32	-
14-73659375-T-C	PSEN1	c.572T>C	p.Val191Ala	Missense	7/12	-
X-19587262-C-T	SH3KBP1	c.1343G>A	p.Gly448Asp	Missense	13/18	-
21-34002518-A-G	SYNJ1	c.*787T>C	-	3-UTRSNV	32/32	-
21-34053914-A-G	SYNJ1	c.1362T>C	p.Pro454Pro	Synonymous	11/32	-
21-34003346-C-T	SYNJ1	c.4798G>A	p.Ala1600Thr	Missense	32/32	-
21-34002476-T-C	SYNJ1	c.*829A>G	-	3-UTRSNV	32/32	-
21-34003666-G-T	SYNJ1	c.4478C>A	p.Ala1493Asp	Missense	32/32	-
21-34029205-C-T	SYNJ1	c.2704G>A	p.Val902Ile	Missense	21/32	-
21-34053853-T-A	SYNJ1	c.1423A>T	p.Ile475Phe	Missense	11/32	-
21-34037301-A-T	SYNJ1	c.2343T>A	p.Val781Val	Synonymous	18/32	-
21-34099114-G-C	SYNJ1	c.210C>G	p.Leu70Leu	Synonymous	2/32	-
21-34012088-G-A	SYNJ1	c.3707C>T	p.Thr1236Met	Missense	30/32	-
21-34072327-G-C	SYNJ1	c.417C>G	p.Ser139Ser	Synonymous	4/32	-
21-34072327-G-A	SYNJ1	c.417C>T	p.Ser139Ser	Synonymous	4/32	-
11-85685820-T-C	PICALM	c.1875A>G	p.Gln625Gln	Synonymous	19/20	-
11-85723408-C-T	PICALM	c.574G>A	p.Val192Ile	Missense	6/20	-
11-85687667-A-G	PICALM	c.1838T>C	p.Ile613Thr	Missense	18/20	-
21-34053902-A-C	SYNJ1	c.1374T>G	p.Thr458Thr	Synonymous	11/32	-
11-85707955-T-C	PICALM	c.1172A>G	p.Asn391Ser	Missense	12/20	-
21-34011299-T-A	SYNJ1	c.3951A>T	p.Pro1317Pro	Synonymous	31/32	-
X-19713801-T-C	SH3KBP1	c.449A>G	p.Asn150Ser	Missense	5/18	-
21-34003990-G-A	SYNJ1	c.4154C>T	p.Pro1385Leu	Missense	32/32	-
X-19606804-G-A	SH3KBP1	c.1255C>T	p.Pro419Ser	Missense	12/18	-
X-19554493-C-T	SH3KBP1	c.*42G>A	-	3-UTRSNV	18/18	-
21-34072218-T-C	SYNJ1	c.526A>G	p.Ile176Val	Missense	4/32	-
21-34011987-A-G	SYNJ1	c.3808T>C	p.Ser1270Pro	Missense	30/32	-
11-85693002-G-C	PICALM	c.1561C>G	p.Gln521Glu	Missense	15/20	-
21-34001670-A-T	SYNJ1	c.*1635T>A	-	3-UTRSNV	32/32	-
11-85692991-G-T	PICALM	c.1572C>A	p.Asn524Lys	Missense	15/20	-
11-85701350-T-C	PICALM	c.1351A>G	p.Ile451Val	Missense	13/20	-
11-85701350-T-G	PICALM	c.1351A>C	p.Ile451Leu	Missense	13/20	-
21-34004010-C-G	SYNJ1	c.4134G>C	p.Gln1378His	Missense	32/32	-
21-34018769-C-A	SYNJ1	c.3298G>T	p.Val1100Leu	Missense	24/32	-
X-19555849-G-A	SH3KBP1	c.1942C>T	p.Arg648Trp	Missense	17/18	-
11-85733410-C-G	PICALM	c.452G>C	p.Gly151Ala	Missense	4/20	-
21-34003454-C-T	SYNJ1	c.4690G>A	p.Gly1564Ser	Missense	32/32	-
X-19554315-G-A	SH3KBP1	c.*220C>T	-	3-UTRSNV	18/18	-
X-19554315-G-C	SH3KBP1	c.*220C>G	-	3-UTRSNV	18/18	-
21-34003803-G-T	SYNJ1	c.4341C>A	p.Asp1447Glu	Missense	32/32	-
X-19560215-G-C	SH3KBP1	c.1720C>G	p.Leu574Val	Missense	16/18	-
11-85711730-A-G	PICALM	c.1110T>C	p.Thr370Thr	Synonymous	11/20	-
X-19854277-C-T	SH3KBP1	c.128G>A	p.Gly43Asp	Missense	2/18	-
21-34038343-G-T	SYNJ1	c.2172C>A	p.Phe724Leu	Missense	17/32	-
21-34038343-G-A	SYNJ1	c.2172C>T	p.Phe724Phe	Synonymous	17/32	-
11-85742546-T-C	PICALM	c.238A>G	p.Ile80Val	Missense	2/20	-
21-34015746-G-A	SYNJ1	c.3569C>T	p.Pro1190Leu	Missense	27/32	-
21-34037321-C-T	SYNJ1	c.2323G>A	p.Asp775Asn	Missense	18/32	-
X-19560276-C-T	SH3KBP1	c.1659G>A	p.Pro553Pro	Synonymous	16/18	-
X-19701950-C-T	SH3KBP1	c.717G>A	p.Pro239Pro	Synonymous	6/18	-
21-34058130-C-A	SYNJ1	c.1163G>T	p.Ser388Ile	Missense	9/32	-
21-34012083-G-A	SYNJ1	c.3712C>T	p.Pro1238Ser	Missense	30/32	-
21-34053799-G-A	SYNJ1	c.1470+7C>T	-	IntronicSNV	-	11/31
11-85742666-A-AA	PICALM	c.131-8_131-8dup	-	IntronicInsertion	-	1/19
21-34003102-C-A	SYNJ1	c.*203G>T	-	3-UTRSNV	32/32	-
21-34029434-C-T	SYNJ1	c.2579-4G>A	-	IntronicSNV	-	19/31
X-19626168-A-G	SH3KBP1	c.898-5T>C	-	IntronicSNV	-	8/17
21-34018893-A-G	SYNJ1	c.3174T>C	p.Ser1058Ser	Synonymous	24/32	-
21-34018893-A-C	SYNJ1	c.3174T>G	p.Ser1058Arg	Missense	24/32	-
21-34002611-A-C	SYNJ1	c.*694T>G	-	3-UTRSNV	32/32	-
21-34018062-C-T	SYNJ1	c.3402G>A	p.Pro1134Pro	Synonymous	25/32	-
21-34053955-G-C	SYNJ1	c.1321C>G	p.Leu441Val	Missense	11/32	-
11-85701326-T-C	PICALM	c.1375A>G	p.Thr459Ala	Missense	13/20	-
21-34067531-G-A	SYNJ1	c.658C>T	p.Arg220Cys	Missense	5/32	-
21-34003274-G-C	SYNJ1	c.*31C>G	-	3-UTRSNV	32/32	-
21-34003624-T-G	SYNJ1	c.4520A>C	p.Gln1507Pro	Missense	32/32	-
X-19701960-T-C	SH3KBP1	c.707A>G	p.Asp236Gly	Missense	6/18	-
21-34003274-G-T	SYNJ1	c.*31C>A	-	3-UTRSNV	32/32	-
11-85694990-G-A	PICALM	c.1435C>T	p.Pro479Ser	Missense	14/20	-
11-85722076-T-C	PICALM	c.762A>G	p.Ala254Ala	Synonymous	7/20	-
X-19610246-A-G	SH3KBP1	c.1077T>C	p.His359His	Synonymous	11/18	-
21-34022646-C-T	SYNJ1	c.3002G>A	p.Arg1001Gln	Missense	23/32	-
21-34022649-T-C	SYNJ1	c.2999A>G	p.Asn1000Ser	Missense	23/32	-
21-34003249-T-A	SYNJ1	c.*56A>T	-	3-UTRSNV	32/32	-
21-34018897-T-C	SYNJ1	c.3170A>G	p.Tyr1057Cys	Missense	24/32	-
X-19854279-G-A	SH3KBP1	c.126C>T	p.Asn42Asn	Synonymous	2/18	-
21-34003562-C-T	SYNJ1	c.4582G>A	p.Asp1528Asn	Missense	32/32	-
11-85687731-A-G	PICALM	c.1780-6T>C	-	IntronicSNV	-	17/19
21-34018905-A-G	SYNJ1	c.3162T>C	p.Val1054Val	Synonymous	24/32	-
21-34058076-T-C	SYNJ1	c.1217A>G	p.Asn406Ser	Missense	9/32	-
21-34067424-A-C	SYNJ1	c.765T>G	p.Phe255Leu	Missense	5/32	-
21-34012026-T-C	SYNJ1	c.3769A>G	p.Arg1257Gly	Missense	30/32	-
11-85733477-T-C	PICALM	c.385A>G	p.Arg129Gly	Missense	4/20	-
21-34018023-C-T	SYNJ1	c.3441G>A	p.Pro1147Pro	Synonymous	25/32	-
21-34001813-T-C	SYNJ1	c.*1492A>G	-	3-UTRSNV	32/32	-
21-34022527-C-G	SYNJ1	c.3121G>C	p.Asp1041His	Missense	23/32	-
21-34011344-A-C	SYNJ1	c.3906T>G	p.Pro1302Pro	Synonymous	31/32	-
11-85669874-A-G	PICALM	c.*215T>C	-	3-UTRSNV	20/20	-
21-34003631-C-T	SYNJ1	c.4513G>A	p.Asp1505Asn	Missense	32/32	-
21-34007201-G-C	SYNJ1	c.4033-3090C>G	-	IntronicSNV	-	31/31
21-34003631-C-G	SYNJ1	c.4513G>C	p.Asp1505His	Missense	32/32	-
21-34072157-C-G	SYNJ1	c.587G>C	p.Arg196Thr	Missense	4/32	-
21-34003561-T-A	SYNJ1	c.4583A>T	p.Asp1528Val	Missense	32/32	-
21-34058130-C-G	SYNJ1	c.1163G>C	p.Ser388Thr	Missense	9/32	-
X-19817783-T-C	SH3KBP1	c.162+36460A>G	-	IntronicSNV	-	2/17
21-34003790-G-A	SYNJ1	c.4354C>T	p.Pro1452Ser	Missense	32/32	-
11-85692207-C-A	PICALM	c.1744G>T	p.Val582Phe	Missense	17/20	-
21-34099150-G-T	SYNJ1	c.174C>A	p.Ser58Arg	Missense	2/32	-
11-85692207-C-T	PICALM	c.1744G>A	p.Val582Ile	Missense	17/20	-
21-34001242-G-GG	SYNJ1	c.*2063_*2063dup	-	3-UTRInsertion	32/32	-
21-34018797-G-A	SYNJ1	c.3270C>T	p.Cys1090Cys	Synonymous	24/32	-
21-34030114-G-C	SYNJ1	c.2490C>G	p.Asp830Glu	Missense	19/32	-
11-85711773-G-A	PICALM	c.1067C>T	p.Thr356Ile	Missense	11/20	-
X-19606877-G-A	SH3KBP1	c.1182C>T	p.Ser394Ser	Synonymous	12/18	-
21-34074317-T-C	SYNJ1	c.282A>G	p.Lys94Lys	Synonymous	3/32	-
21-34003521-G-C	SYNJ1	c.4623C>G	p.Asp1541Glu	Missense	32/32	-
11-85670096-A-C	PICALM	c.1952T>G	p.Phe651Cys	Missense	20/20	-
21-34058070-C-T	SYNJ1	c.1223G>A	p.Ser408Asn	Missense	9/32	-
21-34003521-G-T	SYNJ1	c.4623C>A	p.Asp1541Glu	Missense	32/32	-
21-34018866-C-A	SYNJ1	c.3201G>T	p.Gln1067His	Missense	24/32	-
21-34003556-C-T	SYNJ1	c.4588G>A	p.Gly1530Ser	Missense	32/32	-
21-34048637-T-G	SYNJ1	c.1651+5A>C	-	IntronicSNV	-	13/31
21-34048637-T-C	SYNJ1	c.1651+5A>G	-	IntronicSNV	-	13/31
X-19568125-T-C	SH3KBP1	c.1461A>G	p.Thr487Thr	Synonymous	14/18	-
21-34003983-G-T	SYNJ1	c.4161C>A	p.Pro1387Pro	Synonymous	32/32	-
X-19587241-G-A	SH3KBP1	c.1364C>T	p.Ser455Leu	Missense	13/18	-
21-34011415-G-A	SYNJ1	c.3835C>T	p.Pro1279Ser	Missense	31/32	-
11-85695000-T-C	PICALM	c.1425A>G	p.Pro475Pro	Synonymous	14/20	-
21-34003930-A-G	SYNJ1	c.4214T>C	p.Val1405Ala	Missense	32/32	-
21-34038790-G-A	SYNJ1	c.2022C>T	p.Gly674Gly	Synonymous	16/32	-
X-19553977-G-A	SH3KBP1	c.*558C>T	-	3-UTRSNV	18/18	-
X-19560093-T-G	SH3KBP1	c.1842A>C	p.Thr614Thr	Synonymous	16/18	-
11-85711728-G-A	PICALM	c.1112C>T	p.Ala371Val	Missense	11/20	-
X-19606785-G-A	SH3KBP1	c.1274C>T	p.Pro425Leu	Missense	12/18	-
21-34001355-T-C	SYNJ1	c.*1950A>G	-	3-UTRSNV	32/32	-
11-85779869-C-T	PICALM	c.1-47G>A	-	5-UTRSNV	1/20	-
X-19610220-C-A	SH3KBP1	c.1103G>T	p.Arg368Ile	Missense	11/18	-
21-34037362-T-C	SYNJ1	c.2282A>G	p.His761Arg	Missense	18/32	-
11-85779872-G-A	PICALM	c.1-50C>T	-	5-UTRSNV	1/20	-
21-34037362-T-G	SYNJ1	c.2282A>C	p.His761Pro	Missense	18/32	-
11-85725957-C-G	PICALM	c.502G>C	p.Val168Leu	Missense	5/20	-
21-34018895-T-C	SYNJ1	c.3172A>G	p.Ser1058Gly	Missense	24/32	-
11-85725957-C-T	PICALM	c.502G>A	p.Val168Ile	Missense	5/20	-
21-34053868-C-T	SYNJ1	c.1408G>A	p.Val470Met	Missense	11/32	-
21-34053905-C-G	SYNJ1	c.1371G>C	p.Val457Val	Synonymous	11/32	-
11-85725984-T-C	PICALM	c.475A>G	p.Met159Val	Missense	5/20	-
X-19564064-A-G	SH3KBP1	c.1599T>C	p.Thr533Thr	Synonymous	15/18	-
21-34051073-C-T	SYNJ1	c.1509G>A	p.Gln503Gln	Synonymous	12/32	-
X-19560317-A-G	SH3KBP1	c.1624-6T>C	-	IntronicSNV	-	15/17
11-85779868-A-G	PICALM	c.1-46T>C	-	5-UTRSNV	1/20	-
21-34003309-C-G	SYNJ1	c.4835G>C	p.Arg1612Thr	Missense	32/32	-
21-34003309-C-T	SYNJ1	c.4835G>A	p.Arg1612Lys	Missense	32/32	-
11-85707951-A-G	PICALM	c.1176T>C	p.Asp392Asp	Synonymous	12/20	-
21-34029077-T-C	SYNJ1	c.2832A>G	p.Pro944Pro	Synonymous	21/32	-
21-34029193-C-A	SYNJ1	c.2716G>T	p.Asp906Tyr	Missense	21/32	-
11-85779831-C-T	PICALM	c.1-9G>A	-	5-UTRSNV	1/20	-
11-85707928-G-C	PICALM	c.1199C>G	p.Thr400Ser	Missense	12/20	-
X-19560105-C-G	SH3KBP1	c.1830G>C	p.Glu610Asp	Missense	16/18	-
21-34018806-A-C	SYNJ1	c.3261T>G	p.Thr1087Thr	Synonymous	24/32	-
21-34018806-A-G	SYNJ1	c.3261T>C	p.Thr1087Thr	Synonymous	24/32	-
X-19560105-C-T	SH3KBP1	c.1830G>A	p.Glu610Glu	Synonymous	16/18	-
X-19552310-T-C	SH3KBP1	c.*2225A>G	-	3-UTRSNV	18/18	-
X-19663601-G-C	SH3KBP1	c.727-8C>G	-	IntronicSNV	-	6/17
21-34058174-G-A	SYNJ1	c.1119C>T	p.Asp373Asp	Synonymous	9/32	-
X-19553804-T-C	SH3KBP1	c.*731A>G	-	3-UTRSNV	18/18	-
21-34022499-A-G	SYNJ1	c.3149T>C	p.Met1050Thr	Missense	23/32	-
21-34015771-T-C	SYNJ1	c.3548-4A>G	-	IntronicSNV	-	26/31
X-19764504-G-A	SH3KBP1	c.218C>T	p.Pro73Leu	Missense	3/18	-
21-34025592-C-T	SYNJ1	c.2991+6G>A	-	IntronicSNV	-	22/31
11-85722087-G-T	PICALM	c.751C>A	p.Leu251Ile	Missense	7/20	-
21-34029139-C-T	SYNJ1	c.2770G>A	p.Val924Ile	Missense	21/32	-
21-34029367-G-A	SYNJ1	c.2642C>T	p.Thr881Ile	Missense	20/32	-
21-34053853-T-C	SYNJ1	c.1423A>G	p.Ile475Val	Missense	11/32	-
11-85685804-T-C	PICALM	c.1891A>G	p.Ser631Gly	Missense	19/20	-
21-34003426-G-A	SYNJ1	c.4718C>T	p.Pro1573Leu	Missense	32/32	-
21-34011221-C-T	SYNJ1	c.4029G>A	p.Pro1343Pro	Synonymous	31/32	-
X-19553106-T-C	SH3KBP1	c.*1429A>G	-	3-UTRSNV	18/18	-
X-19552189-T-TT	SH3KBP1	c.*2346_*2346dup	-	3-UTRInsertion	18/18	-
21-34045747-A-G	SYNJ1	c.1746T>C	p.Asn582Asn	Synonymous	14/32	-
21-34015750-T-C	SYNJ1	c.3565A>G	p.Ser1189Gly	Missense	27/32	-
21-34025612-G-A	SYNJ1	c.2977C>T	p.Leu993Leu	Synonymous	22/32	-
11-85723388-C-T	PICALM	c.594G>A	p.Met198Ile	Missense	6/20	-
21-34029195-A-G	SYNJ1	c.2714T>C	p.Ile905Thr	Missense	21/32	-
11-85669878-C-CC	PICALM	c.*211_*211dup	-	3-UTRInsertion	20/20	-
11-85725987-T-C	PICALM	c.472A>G	p.Thr158Ala	Missense	5/20	-
21-34056424-T-C	SYNJ1	c.1241A>G	p.Gln414Arg	Missense	10/32	-
11-85725987-T-G	PICALM	c.472A>C	p.Thr158Pro	Missense	5/20	-
11-85722168-C-G	PICALM	c.670G>C	p.Asp224His	Missense	7/20	-
11-85722168-C-T	PICALM	c.670G>A	p.Asp224Asn	Missense	7/20	-
11-85711739-C-A	PICALM	c.1101G>T	p.Gly367Gly	Synonymous	11/20	-
21-34072356-G-C	SYNJ1	c.388C>G	p.Gln130Glu	Missense	4/32	-
11-85711739-C-T	PICALM	c.1101G>A	p.Gly367Gly	Synonymous	11/20	-
21-34037370-T-A	SYNJ1	c.2274A>T	p.Leu758Leu	Synonymous	18/32	-
21-34072159-A-G	SYNJ1	c.585T>C	p.Asn195Asn	Synonymous	4/32	-
X-19564078-C-T	SH3KBP1	c.1585G>A	p.Ala529Thr	Missense	15/18	-
11-85687680-T-G	PICALM	c.1825A>C	p.Ile609Leu	Missense	18/20	-
11-85723384-G-T	PICALM	c.598C>A	p.Leu200Met	Missense	6/20	-
21-34003651-T-C	SYNJ1	c.4493A>G	p.Asp1498Gly	Missense	32/32	-
11-85692816-G-A	PICALM	c.1651C>T	p.Leu551Phe	Missense	16/20	-
21-34029404-T-C	SYNJ1	c.2605A>G	p.Ser869Gly	Missense	20/32	-
21-34029048-A-G	SYNJ1	c.2861T>C	p.Ile954Thr	Missense	21/32	-
X-19764471-A-G	SH3KBP1	c.251T>C	p.Leu84Pro	Missense	3/18	-
11-85692196-T-C	PICALM	c.1755A>G	p.Thr585Thr	Synonymous	17/20	-
21-34002605-G-A	SYNJ1	c.*700C>T	-	3-UTRSNV	32/32	-
X-19554576-T-C	SH3KBP1	c.1957A>G	p.Met653Val	Missense	18/18	-
11-85742613-T-C	PICALM	c.171A>G	p.Pro57Pro	Synonymous	2/20	-
X-19610249-T-C	SH3KBP1	c.1074A>G	p.Lys358Lys	Synonymous	11/18	-
11-85718608-C-T	PICALM	c.784G>A	p.Gly262Ser	Missense	8/20	-
11-85685839-C-T	PICALM	c.1856G>A	p.Ser619Asn	Missense	19/20	-
21-34066544-C-T	SYNJ1	c.900G>A	p.Gly300Gly	Synonymous	6/32	-
11-85685839-C-A	PICALM	c.1856G>T	p.Ser619Ile	Missense	19/20	-
21-34011219-T-C	SYNJ1	c.4031A>G	p.Gln1344Arg	Missense	31/32	-
X-19553823-A-T	SH3KBP1	c.*712T>A	-	3-UTRSNV	18/18	-
X-19553313-G-A	SH3KBP1	c.*1222C>T	-	3-UTRSNV	18/18	-
21-34003261-T-C	SYNJ1	c.*44A>G	-	3-UTRSNV	32/32	-
21-34066531-C-G	SYNJ1	c.906+7G>C	-	IntronicSNV	-	6/31
21-34056436-C-G	SYNJ1	c.1236-7G>C	-	IntronicSNV	-	9/31
21-34056436-C-T	SYNJ1	c.1236-7G>A	-	IntronicSNV	-	9/31
21-34099146-T-C	SYNJ1	c.178A>G	p.Ile60Val	Missense	2/32	-
21-34001808-A-G	SYNJ1	c.*1497T>C	-	3-UTRSNV	32/32	-
21-34017985-G-A	SYNJ1	c.3479C>T	p.Ala1160Val	Missense	25/32	-
X-19606803-G-T	SH3KBP1	c.1256C>A	p.Pro419Gln	Missense	12/18	-
X-19606803-G-A	SH3KBP1	c.1256C>T	p.Pro419Leu	Missense	12/18	-
11-85692806-C-A	PICALM	c.1661G>T	p.Gly554Val	Missense	16/20	-
21-34059353-T-G	SYNJ1	c.1000A>C	p.Lys334Gln	Missense	8/32	-
X-19554093-C-T	SH3KBP1	c.*442G>A	-	3-UTRSNV	18/18	-
21-34099182-T-C	SYNJ1	c.142A>G	p.Ile48Val	Missense	2/32	-
21-34056381-T-C	SYNJ1	c.1284A>G	p.Arg428Arg	Synonymous	10/32	-
X-19564163-G-T	SH3KBP1	c.1500C>A	p.Ser500Ser	Synonymous	15/18	-
11-85712123-C-T	PICALM	c.972G>A	p.Lys324Lys	Synonymous	10/20	-
11-85695023-A-G	PICALM	c.1409-7T>C	-	IntronicSNV	-	13/19
21-34003386-C-T	SYNJ1	c.4758G>A	p.Pro1586Pro	Synonymous	32/32	-
21-34001981-G-A	SYNJ1	c.*1324C>T	-	3-UTRSNV	32/32	-
X-19713827-G-A	SH3KBP1	c.423C>T	p.Asn141Asn	Synonymous	5/18	-
21-34003476-T-C	SYNJ1	c.4668A>G	p.Thr1556Thr	Synonymous	32/32	-
21-34074305-T-C	SYNJ1	c.294A>G	p.Ala98Ala	Synonymous	3/32	-
21-34051063-A-C	SYNJ1	c.1519T>G	p.Phe507Val	Missense	12/32	-
11-85669872-T-C	PICALM	c.*217A>G	-	3-UTRSNV	20/20	-
21-34003331-G-T	SYNJ1	c.4813C>A	p.Pro1605Thr	Missense	32/32	-
X-19560171-C-T	SH3KBP1	c.1764G>A	p.Pro588Pro	Synonymous	16/18	-
21-34003298-C-A	SYNJ1	c.*7G>T	-	3-UTRSNV	32/32	-
X-19555870-A-G	SH3KBP1	c.1921T>C	p.Leu641Leu	Synonymous	17/18	-
21-34053918-T-C	SYNJ1	c.1358A>G	p.Lys453Arg	Missense	11/32	-
X-19564094-C-T	SH3KBP1	c.1569G>A	p.Ala523Ala	Synonymous	15/18	-
21-34011346-G-A	SYNJ1	c.3904C>T	p.Pro1302Ser	Missense	31/32	-
11-85692926-T-C	PICALM	c.1637A>G	p.Asn546Ser	Missense	15/20	-
11-85685815-G-T	PICALM	c.1880C>A	p.Thr627Asn	Missense	19/20	-
X-19554239-T-C	SH3KBP1	c.*296A>G	-	3-UTRSNV	18/18	-
X-19560171-C-G	SH3KBP1	c.1764G>C	p.Pro588Pro	Synonymous	16/18	-
11-85712159-A-G	PICALM	c.936T>C	p.Thr312Thr	Synonymous	10/20	-
11-85779876-C-A	PICALM	c.1-54G>T	-	5-UTRSNV	1/20	-
21-34058095-A-T	SYNJ1	c.1198T>A	p.Tyr400Asn	Missense	9/32	-
21-34067462-T-C	SYNJ1	c.727A>G	p.Ile243Val	Missense	5/32	-
21-34002165-T-C	SYNJ1	c.*1140A>G	-	3-UTRSNV	32/32	-
11-85687706-T-C	PICALM	c.1799A>G	p.Tyr600Cys	Missense	18/20	-
11-85687706-T-A	PICALM	c.1799A>T	p.Tyr600Phe	Missense	18/20	-
11-85687706-T-G	PICALM	c.1799A>C	p.Tyr600Ser	Missense	18/20	-
21-34018755-G-A	SYNJ1	c.3312C>T	p.Pro1104Pro	Synonymous	24/32	-
21-34003179-A-T	SYNJ1	c.*126T>A	-	3-UTRSNV	32/32	-
21-34037226-T-C	SYNJ1	c.2418A>G	p.Gly806Gly	Synonymous	18/32	-
11-85711811-T-A	PICALM	c.1029A>T	p.Leu343Leu	Synonymous	11/20	-
11-85711811-T-C	PICALM	c.1029A>G	p.Leu343Leu	Synonymous	11/20	-
11-85779717-C-G	PICALM	c.106G>C	p.Gly36Arg	Missense	1/20	-
X-19613095-T-G	SH3KBP1	c.1029A>C	p.Pro343Pro	Synonymous	10/18	-
21-34100294-C-A	SYNJ1	c.58G>T	p.Gly20Cys	Missense	1/32	-
21-34030150-G-A	SYNJ1	c.2454C>T	p.Thr818Thr	Synonymous	19/32	-
21-34030150-G-C	SYNJ1	c.2454C>G	p.Thr818Thr	Synonymous	19/32	-
21-34072177-T-C	SYNJ1	c.567A>G	p.Gln189Gln	Synonymous	4/32	-
21-34018046-G-C	SYNJ1	c.3418C>G	p.Gln1140Glu	Missense	25/32	-
21-34003477-G-A	SYNJ1	c.4667C>T	p.Thr1556Ile	Missense	32/32	-
21-34058069-A-G	SYNJ1	c.1224T>C	p.Ser408Ser	Synonymous	9/32	-
21-34100294-C-T	SYNJ1	c.58G>A	p.Gly20Ser	Missense	1/32	-
21-34003539-T-C	SYNJ1	c.4605A>G	p.Ser1535Ser	Synonymous	32/32	-
X-19854270-T-C	SH3KBP1	c.135A>G	p.Arg45Arg	Synonymous	2/18	-
21-34060616-C-T	SYNJ1	c.968G>A	p.Arg323Lys	Missense	7/32	-
21-34067463-G-A	SYNJ1	c.726C>T	p.Leu242Leu	Synonymous	5/32	-
11-85722066-A-G	PICALM	c.765+7T>C	-	IntronicSNV	-	7/19
11-85707899-T-C	PICALM	c.1228A>G	p.Thr410Ala	Missense	12/20	-
21-34030102-G-C	SYNJ1	c.2502C>G	p.Thr834Thr	Synonymous	19/32	-
11-85722079-A-C	PICALM	c.759T>G	p.Val253Val	Synonymous	7/20	-
21-34002669-C-T	SYNJ1	c.*636G>A	-	3-UTRSNV	32/32	-
21-34003434-A-G	SYNJ1	c.4710T>C	p.Cys1570Cys	Synonymous	32/32	-
11-85701323-T-C	PICALM	c.1378A>G	p.Thr460Ala	Missense	13/20	-
21-34003449-T-C	SYNJ1	c.4695A>G	p.Thr1565Thr	Synonymous	32/32	-
11-85712131-T-A	PICALM	c.964A>T	p.Arg322Trp	Missense	10/20	-
21-34074305-T-G	SYNJ1	c.294A>C	p.Ala98Ala	Synonymous	3/32	-
X-19610272-G-A	SH3KBP1	c.1058-7C>T	-	IntronicSNV	-	10/17
21-34029170-T-C	SYNJ1	c.2739A>G	p.Glu913Glu	Synonymous	21/32	-
21-34018835-C-G	SYNJ1	c.3232G>C	p.Gly1078Arg	Missense	24/32	-
21-34003617-C-T	SYNJ1	c.4527G>A	p.Gln1509Gln	Synonymous	32/32	-
21-34038278-A-G	SYNJ1	c.2237T>C	p.Ile746Thr	Missense	17/32	-
X-19554059-G-A	SH3KBP1	c.*476C>T	-	3-UTRSNV	18/18	-
21-34018770-A-G	SYNJ1	c.3297T>C	p.Pro1099Pro	Synonymous	24/32	-
21-34053881-C-T	SYNJ1	c.1395G>A	p.Arg465Arg	Synonymous	11/32	-
21-34037245-A-G	SYNJ1	c.2399T>C	p.Ile800Thr	Missense	18/32	-
X-19560116-C-A	SH3KBP1	c.1819G>T	p.Ala607Ser	Missense	16/18	-
21-34011295-A-T	SYNJ1	c.3955T>A	p.Leu1319Met	Missense	31/32	-
21-34037232-A-G	SYNJ1	c.2412T>C	p.Asn804Asn	Synonymous	18/32	-
11-85685862-A-C	PICALM	c.1840-7T>G	-	IntronicSNV	-	18/19
21-34058146-C-T	SYNJ1	c.1147G>A	p.Ala383Thr	Missense	9/32	-
X-19606822-T-C	SH3KBP1	c.1237A>G	p.Arg413Gly	Missense	12/18	-
21-34011369-G-C	SYNJ1	c.3881C>G	p.Pro1294Arg	Missense	31/32	-
21-34011369-G-A	SYNJ1	c.3881C>T	p.Pro1294Leu	Missense	31/32	-
11-85714456-T-C	PICALM	c.846A>G	p.Leu282Leu	Synonymous	9/20	-
X-19560160-C-T	SH3KBP1	c.1775G>A	p.Gly592Asp	Missense	16/18	-
21-34072321-C-T	SYNJ1	c.423G>A	p.Glu141Glu	Synonymous	4/32	-
X-19568181-C-T	SH3KBP1	c.1405G>A	p.Val469Met	Missense	14/18	-
21-34051014-G-C	SYNJ1	c.1568C>G	p.Thr523Ser	Missense	12/32	-
21-34067517-T-A	SYNJ1	c.672A>T	p.Gly224Gly	Synonymous	5/32	-
21-34100317-T-C	SYNJ1	c.35A>G	p.Asp12Gly	Missense	1/32	-
11-85692985-A-C	PICALM	c.1578T>G	p.Pro526Pro	Synonymous	15/20	-
X-19554565-G-A	SH3KBP1	c.1968C>T	p.Asn656Asn	Synonymous	18/18	-
11-85701383-G-A	PICALM	c.1318C>T	p.Leu440Phe	Missense	13/20	-
11-85707947-G-C	PICALM	c.1180C>G	p.Leu394Val	Missense	12/20	-
21-34038285-T-C	SYNJ1	c.2230A>G	p.Ile744Val	Missense	17/32	-
21-34001625-C-T	SYNJ1	c.*1680G>A	-	3-UTRSNV	32/32	-
21-34001627-G-A	SYNJ1	c.*1678C>T	-	3-UTRSNV	32/32	-
21-34099087-C-A	SYNJ1	c.237G>T	p.Val79Val	Synonymous	2/32	-
21-34050958-G-A	SYNJ1	c.1624C>T	p.Arg542Cys	Missense	12/32	-
21-34012032-C-A	SYNJ1	c.3763G>T	p.Ala1255Ser	Missense	30/32	-
21-34003953-C-A	SYNJ1	c.4191G>T	p.Leu1397Phe	Missense	32/32	-
X-19560250-C-T	SH3KBP1	c.1685G>A	p.Gly562Glu	Missense	16/18	-
21-34074283-G-A	SYNJ1	c.316C>T	p.Arg106Trp	Missense	3/32	-
21-34003885-G-A	SYNJ1	c.4259C>T	p.Ala1420Val	Missense	32/32	-
21-34002359-C-T	SYNJ1	c.*946G>A	-	3-UTRSNV	32/32	-
21-34030141-C-T	SYNJ1	c.2463G>A	p.Pro821Pro	Synonymous	19/32	-
11-85737365-T-C	PICALM	c.318A>G	p.Leu106Leu	Synonymous	3/20	-
21-34003513-C-A	SYNJ1	c.4631G>T	p.Gly1544Val	Missense	32/32	-
21-34011261-C-G	SYNJ1	c.3989G>C	p.Arg1330Thr	Missense	31/32	-
X-19854344-T-C	SH3KBP1	c.61A>G	p.Ser21Gly	Missense	2/18	-
21-34003261-T-G	SYNJ1	c.*44A>C	-	3-UTRSNV	32/32	-
11-85733523-A-AA	PICALM	c.350-5_350-5dup	-	IntronicInsertion	-	3/19
21-34002274-G-A	SYNJ1	c.*1031C>T	-	3-UTRSNV	32/32	-
X-19606775-C-T	SH3KBP1	c.1284G>A	p.Pro428Pro	Synonymous	12/18	-
X-19564136-G-A	SH3KBP1	c.1527C>T	p.Ser509Ser	Synonymous	15/18	-
11-85707958-G-C	PICALM	c.1169C>G	p.Pro390Arg	Missense	12/20	-
X-19613088-G-A	SH3KBP1	c.1036C>T	p.Pro346Ser	Missense	10/18	-
11-85742540-T-C	PICALM	c.244A>G	p.Thr82Ala	Missense	2/20	-
11-85692220-G-C	PICALM	c.1731C>G	p.Asn577Lys	Missense	17/20	-
21-34007186-T-C	SYNJ1	c.4033-3075A>G	-	IntronicSNV	-	31/31
21-34038272-C-T	SYNJ1	c.2243G>A	p.Arg748Gln	Missense	17/32	-
21-34067489-C-T	SYNJ1	c.700G>A	p.Ala234Thr	Missense	5/32	-
X-19553415-G-A	SH3KBP1	c.*1120C>T	-	3-UTRSNV	18/18	-
11-85714497-G-A	PICALM	c.808-3C>T	-	IntronicSNV	-	8/19
21-34011336-G-C	SYNJ1	c.3914C>G	p.Pro1305Arg	Missense	31/32	-
21-34029132-G-A	SYNJ1	c.2777C>T	p.Ala926Val	Missense	21/32	-
X-19606775-C-G	SH3KBP1	c.1284G>C	p.Pro428Pro	Synonymous	12/18	-
X-19854278-C-T	SH3KBP1	c.127G>A	p.Gly43Ser	Missense	2/18	-
21-34003304-G-A	SYNJ1	c.*1C>T	-	3-UTRSNV	32/32	-
21-34066562-C-G	SYNJ1	c.882G>C	p.Leu294Phe	Missense	6/32	-
21-34003378-G-C	SYNJ1	c.4766C>G	p.Thr1589Ser	Missense	32/32	-
21-34017296-T-C	SYNJ1	c.3529A>G	p.Thr1177Ala	Missense	26/32	-
21-34030162-T-C	SYNJ1	c.2442A>G	p.Glu814Glu	Synonymous	19/32	-
X-19560161-C-T	SH3KBP1	c.1774G>A	p.Gly592Ser	Missense	16/18	-
21-34053862-C-A	SYNJ1	c.1414G>T	p.Gly472Cys	Missense	11/32	-
21-34067599-G-A	SYNJ1	c.597-7C>T	-	IntronicSNV	-	4/31
21-34030048-C-T	SYNJ1	c.2556G>A	p.Arg852Arg	Synonymous	19/32	-
11-85712165-T-A	PICALM	c.930A>T	p.Ala310Ala	Synonymous	10/20	-
X-19560301-T-C	SH3KBP1	c.1634A>G	p.Asn545Ser	Missense	16/18	-
21-34072140-G-A	SYNJ1	c.596+8C>T	-	IntronicSNV	-	4/31
21-34038828-T-C	SYNJ1	c.1984A>G	p.Asn662Asp	Missense	16/32	-
X-19587223-A-G	SH3KBP1	c.1382T>C	p.Ile461Thr	Missense	13/18	-
X-19854342-G-A	SH3KBP1	c.63C>T	p.Ser21Ser	Synonymous	2/18	-
21-34072407-T-C	SYNJ1	c.337A>G	p.Met113Val	Missense	4/32	-
21-34012018-A-G	SYNJ1	c.3777T>C	p.Thr1259Thr	Synonymous	30/32	-
14-73673138-G-T	PSEN1	c.913G>T	p.Ala305Ser	Missense	9/12	-
21-34029103-A-G	SYNJ1	c.2806T>C	p.Leu936Leu	Synonymous	21/32	-
21-34030156-C-T	SYNJ1	c.2448G>A	p.Lys816Lys	Synonymous	19/32	-
11-85701411-A-G	PICALM	c.1290T>C	p.Asp430Asp	Synonymous	13/20	-
21-34038825-T-C	SYNJ1	c.1987A>G	p.Lys663Glu	Missense	16/32	-
X-19650017-T-C	SH3KBP1	c.862A>G	p.Ile288Val	Missense	8/18	-
21-34099164-G-T	SYNJ1	c.160C>A	p.Pro54Thr	Missense	2/32	-
21-34099164-G-A	SYNJ1	c.160C>T	p.Pro54Ser	Missense	2/32	-
X-19553573-T-C	SH3KBP1	c.*962A>G	-	3-UTRSNV	18/18	-
X-19560222-G-C	SH3KBP1	c.1713C>G	p.Pro571Pro	Synonymous	16/18	-
21-34001914-A-G	SYNJ1	c.*1391T>C	-	3-UTRSNV	32/32	-
21-34037322-G-A	SYNJ1	c.2322C>T	p.Ile774Ile	Synonymous	18/32	-
11-85742581-G-C	PICALM	c.203C>G	p.Thr68Ser	Missense	2/20	-
X-19854362-C-G	SH3KBP1	c.43G>C	p.Asp15His	Missense	2/18	-
21-34017978-T-G	SYNJ1	c.3486A>C	p.Pro1162Pro	Synonymous	25/32	-
21-34017978-T-C	SYNJ1	c.3486A>G	p.Pro1162Pro	Synonymous	25/32	-
21-34058062-G-C	SYNJ1	c.1231C>G	p.Gln411Glu	Missense	9/32	-
21-34003176-A-G	SYNJ1	c.*129T>C	-	3-UTRSNV	32/32	-
X-19606835-G-C	SH3KBP1	c.1224C>G	p.Thr408Thr	Synonymous	12/18	-
21-34067388-G-A	SYNJ1	c.801C>T	p.Ala267Ala	Synonymous	5/32	-
21-34014437-T-C	SYNJ1	c.3602A>G	p.Lys1201Arg	Missense	28/32	-
21-34045710-G-C	SYNJ1	c.1783C>G	p.Gln595Glu	Missense	14/32	-
X-19606859-T-G	SH3KBP1	c.1200A>C	p.Pro400Pro	Synonymous	12/18	-
21-34042665-T-C	SYNJ1	c.1861A>G	p.Thr621Ala	Missense	15/32	-
21-34004016-C-T	SYNJ1	c.4128G>A	p.Lys1376Lys	Synonymous	32/32	-
21-34003865-T-C	SYNJ1	c.4279A>G	p.Asn1427Asp	Missense	32/32	-
11-85714448-A-G	PICALM	c.854T>C	p.Leu285Ser	Missense	9/20	-
11-85695012-G-T	PICALM	c.1413C>A	p.Phe471Leu	Missense	14/20	-