Tumor_Barcode	Chromosome	Start_Position	End_Position	Reference_Allele	Tumor_Seq_Allele2	Hugo_Symbol	Variant_Classification	tx	exon	txChange	aaChange	Variant_Type	sample_id	Func.refGene	Gene.refGene	GeneDetail.refGene	ExonicFunc.refGene	AAChange.refGene	Func.ensGene	Gene.ensGene	GeneDetail.ensGene	ExonicFunc.ensGene	AAChange.ensGene
EGBC1	chr1	51409660	51409660	G	C	EPS15	Missense_Mutation	NM_001159969	exon2	c.C208G	p.L70V	SNP	all_mutianno	exonic	EPS15	NA	nonsynonymous SNV	EPS15:NM_001159969:exon2:c.C208G:p.L70V,EPS15:NM_001981:exon14:c.C1150G:p.L384V	exonic	EPS15	NA	nonsynonymous SNV	EPS15:ENST00000371730.6:exon14:c.C1150G:p.L384V
EGBC1	chr1	158681615	158681615	A	G	SPTA1	Missense_Mutation	NM_003126	exon4	c.T443C	p.L148P	SNP	all_mutianno	exonic	SPTA1	NA	nonsynonymous SNV	SPTA1:NM_003126:exon4:c.T443C:p.L148P	exonic	SPTA1	NA	unknown	UNKNOWN
EGBC1	chr1	211361101	211361101	T	G	TRAF5	Missense_Mutation	NM_001033910	exon7	c.T635G	p.L212R	SNP	all_mutianno	exonic	TRAF5	NA	nonsynonymous SNV	TRAF5:NM_001033910:exon7:c.T635G:p.L212R,TRAF5:NM_001319207:exon7:c.T668G:p.L223R,TRAF5:NM_004619:exon7:c.T635G:p.L212R,TRAF5:NM_145759:exon7:c.T635G:p.L212R	exonic	TRAF5	NA	nonsynonymous SNV	TRAF5:ENST00000336184.6:exon7:c.T635G:p.L212R,TRAF5:ENST00000367004.3:exon7:c.T635G:p.L212R
EGBC1	chr1	231163489	231163489	C	A	TRIM67	Missense_Mutation	NM_001004342	exon1	c.C520A	p.R174S	SNP	all_mutianno	exonic	TRIM67	NA	nonsynonymous SNV	TRIM67:NM_001004342:exon1:c.C520A:p.R174S,TRIM67:NM_001300889:exon2:c.C400A:p.R134S	exonic	TRIM67	NA	nonsynonymous SNV	TRIM67:ENST00000366653.5:exon1:c.C520A:p.R174S,TRIM67:ENST00000444294.7:exon1:c.C520A:p.R174S,TRIM67:ENST00000449018.7:exon2:c.C400A:p.R134S
EGBC1	chr2	24707464	24707464	A	G	NCOA1	Missense_Mutation	NM_147233	exon11	c.A1994G	p.N665S	SNP	all_mutianno	exonic	NCOA1	NA	nonsynonymous SNV	NCOA1:NM_147233:exon11:c.A1994G:p.N665S,NCOA1:NM_147223:exon12:c.A1994G:p.N665S,NCOA1:NM_001362950:exon13:c.A1994G:p.N665S,NCOA1:NM_001362952:exon13:c.A1994G:p.N665S,NCOA1:NM_001362954:exon13:c.A1994G:p.N665S,NCOA1:NM_001362955:exon13:c.A1994G:p.N665S,NCOA1:NM_003743:exon13:c.A1994G:p.N665S	exonic	NCOA1	NA	nonsynonymous SNV	NCOA1:ENST00000288599.9:exon11:c.A1994G:p.N665S,NCOA1:ENST00000348332.7:exon11:c.A1994G:p.N665S,NCOA1:ENST00000395856.3:exon11:c.A1994G:p.N665S,NCOA1:ENST00000407230.5:exon11:c.A1541G:p.N514S,NCOA1:ENST00000406961.5:exon13:c.A1994G:p.N665S,NCOA1:ENST00000405141.5:exon14:c.A1994G:p.N665S
EGBC1	chr2	47373943	47373943	C	T	EPCAM	Missense_Mutation	NM_002354	exon3	c.C320T	p.A107V	SNP	all_mutianno	exonic	EPCAM	NA	nonsynonymous SNV	EPCAM:NM_002354:exon3:c.C320T:p.A107V	exonic	EPCAM	NA	nonsynonymous SNV	EPCAM:ENST00000263735.8:exon3:c.C320T:p.A107V,EPCAM:ENST00000405271.5:exon4:c.C404T:p.A135V
EGBC1	chr2	50621211	50621211	A	T	NRXN1	Missense_Mutation	NM_001330083	exon4	c.T1113A	p.H371Q	SNP	all_mutianno	exonic	NRXN1	NA	nonsynonymous SNV	NRXN1:NM_001330083:exon4:c.T1113A:p.H371Q,NRXN1:NM_001330084:exon4:c.T1113A:p.H371Q,NRXN1:NM_001135659:exon8:c.T1272A:p.H424Q	exonic	NRXN1	NA	nonsynonymous SNV	NRXN1:ENST00000406859.7:exon2:c.T342A:p.H114Q,NRXN1:ENST00000404971.5:exon8:c.T1272A:p.H424Q
EGBC1	chr2	173359316	173359316	A	T	CDCA7	Missense_Mutation	NM_031942	exon3	c.A209T	p.D70V	SNP	all_mutianno	exonic	CDCA7	NA	nonsynonymous SNV	CDCA7:NM_031942:exon3:c.A209T:p.D70V	exonic	CDCA7	NA	unknown	UNKNOWN
EGBC1	chr2	195895067	195895067	C	A	DNAH7	Missense_Mutation	NM_018897	exon30	c.G4805T	p.R1602L	SNP	all_mutianno	exonic	DNAH7	NA	nonsynonymous SNV	DNAH7:NM_018897:exon30:c.G4805T:p.R1602L	exonic	DNAH7	NA	unknown	UNKNOWN
EGBC1	chr2	233193894	233193894	G	T	INPP5D	Missense_Mutation	NM_001017915	exon23	c.G2529T	p.L843F	SNP	all_mutianno	exonic	INPP5D	NA	nonsynonymous SNV	INPP5D:NM_001017915:exon23:c.G2529T:p.L843F,INPP5D:NM_005541:exon23:c.G2526T:p.L842F	exonic	INPP5D	NA	nonsynonymous SNV	INPP5D:ENST00000359570.9:exon23:c.G2526T:p.L842F
EGBC1	chr3	10065429	10065429	G	A	FANCD2	Missense_Mutation	NM_001374253	exon23	c.G2093A	p.R698Q	SNP	all_mutianno	exonic	FANCD2	NA	nonsynonymous SNV	FANCD2:NM_001374253:exon23:c.G2093A:p.R698Q,FANCD2:NM_001018115:exon24:c.G2204A:p.R735Q,FANCD2:NM_001319984:exon24:c.G2204A:p.R735Q,FANCD2:NM_001374254:exon24:c.G2204A:p.R735Q,FANCD2:NM_033084:exon24:c.G2204A:p.R735Q	exonic	FANCD2	NA	nonsynonymous SNV	FANCD2:ENST00000287647.7:exon24:c.G2204A:p.R735Q,FANCD2:ENST00000383807.5:exon24:c.G2204A:p.R735Q,FANCD2:ENST00000419585.5:exon24:c.G2204A:p.R735Q
EGBC1	chr3	131014098	131014098	C	T	ASTE1	Missense_Mutation	NM_014065	exon6	c.G1999A	p.E667K	SNP	all_mutianno	exonic	ASTE1	NA	nonsynonymous SNV	ASTE1:NM_014065:exon6:c.G1999A:p.E667K,ASTE1:NM_001288950:exon7:c.G2074A:p.E692K	exonic	ASTE1	NA	nonsynonymous SNV	ASTE1:ENST00000264992.7:exon6:c.G1999A:p.E667K,ASTE1:ENST00000514044.5:exon7:c.G2074A:p.E692K
EGBC1	chr4	99649980	99649981	TG	T	C4orf54	Frame_Shift_Del	NM_001354435	exon2	c.4668delC	p.T1557Pfs*60	DEL	all_mutianno	exonic	C4orf54	NA	frameshift deletion	C4orf54:NM_001354435:exon2:c.4668delC:p.T1557Pfs*60	exonic	RP11-766F14.2	NA	frameshift deletion	RP11-766F14.2:ENST00000511828.1:exon1:c.4668delC:p.T1557Pfs*60
EGBC1	chr4	102650556	102650556	T	C	MANBA	Missense_Mutation	NM_005908	exon13	c.A1850G	p.D617G	SNP	all_mutianno	exonic	MANBA	NA	nonsynonymous SNV	MANBA:NM_005908:exon13:c.A1850G:p.D617G	exonic	MANBA	NA	nonsynonymous SNV	MANBA:ENST00000505239.1:exon12:c.A1679G:p.D560G
EGBC1	chr4	127706572	127706572	T	A	INTU	Missense_Mutation	NM_015693	exon12	c.T1874A	p.V625E	SNP	all_mutianno	exonic	INTU	NA	nonsynonymous SNV	INTU:NM_015693:exon12:c.T1874A:p.V625E	exonic	INTU	NA	unknown	UNKNOWN
EGBC1	chr4	133150670	133150670	G	C	PCDH10	Missense_Mutation	NM_020815	exon1	c.G530C	p.G177A	SNP	all_mutianno	exonic	PCDH10	NA	nonsynonymous SNV	PCDH10:NM_020815:exon1:c.G530C:p.G177A,PCDH10:NM_032961:exon1:c.G530C:p.G177A	exonic	PCDH10	NA	nonsynonymous SNV	PCDH10:ENST00000618019.1:exon1:c.G530C:p.G177A
EGBC1	chr4	144708252	144708252	C	A	HHIP	Missense_Mutation	NM_022475	exon7	c.C1242A	p.H414Q	SNP	all_mutianno	exonic	HHIP	NA	nonsynonymous SNV	HHIP:NM_022475:exon7:c.C1242A:p.H414Q	exonic	HHIP	NA	unknown	UNKNOWN
EGBC1	chr4	153603359	153603359	T	A	TMEM131L	Missense_Mutation	NM_001131007	exon24	c.T2696A	p.M899K	SNP	all_mutianno	exonic	TMEM131L	NA	nonsynonymous SNV	TMEM131L:NM_001131007:exon24:c.T2696A:p.M899K,TMEM131L:NM_015196:exon24:c.T2693A:p.M898K	exonic	KIAA0922	NA	nonsynonymous SNV	KIAA0922:ENST00000409663.7:exon24:c.T2693A:p.M898K
EGBC1	chr4	166057270	166057270	C	G	TLL1	Missense_Mutation	NM_012464	exon14	c.C1807G	p.P603A	SNP	all_mutianno	exonic	TLL1	NA	nonsynonymous SNV	TLL1:NM_012464:exon14:c.C1807G:p.P603A	exonic	TLL1	NA	nonsynonymous SNV	TLL1:ENST00000507499.5:exon15:c.C1876G:p.P626A
EGBC1	chr4	184770322	184770322	G	A	ACSL1	Missense_Mutation	NM_001286710	exon11	c.C926T	p.P309L	SNP	all_mutianno	exonic	ACSL1	NA	nonsynonymous SNV	ACSL1:NM_001286710:exon11:c.C926T:p.P309L,ACSL1:NM_001381884:exon11:c.C926T:p.P309L,ACSL1:NM_001381886:exon11:c.C926T:p.P309L,ACSL1:NM_001381887:exon11:c.C926T:p.P309L,ACSL1:NM_001381885:exon12:c.C926T:p.P309L	exonic	ACSL1	NA	nonsynonymous SNV	ACSL1:ENST00000513317.5:exon11:c.C926T:p.P309L
EGBC1	chr5	9337725	9337725	A	G	SEMA5A	Missense_Mutation	NM_003966	exon4	c.T212C	p.V71A	SNP	all_mutianno	exonic	SEMA5A	NA	nonsynonymous SNV	SEMA5A:NM_003966:exon4:c.T212C:p.V71A	exonic	SEMA5A	NA	unknown	UNKNOWN
EGBC1	chr5	141868679	141868679	G	C	PCDH1	Missense_Mutation	NM_001278613	exon2	c.C841G	p.L281V	SNP	all_mutianno	exonic	PCDH1	NA	nonsynonymous SNV	PCDH1:NM_001278613:exon2:c.C841G:p.L281V,PCDH1:NM_002587:exon2:c.C793G:p.L265V,PCDH1:NM_032420:exon2:c.C793G:p.L265V	exonic	PCDH1	NA	nonsynonymous SNV	PCDH1:ENST00000287008.7:exon2:c.C793G:p.L265V,PCDH1:ENST00000394536.4:exon2:c.C793G:p.L265V,PCDH1:ENST00000503492.5:exon2:c.C793G:p.L265V
EGBC1	chr5	149621814	149621814	A	T	ARHGEF37	Nonsense_Mutation	NM_001001669	exon9	c.A1087T	p.K363X	SNP	all_mutianno	exonic	ARHGEF37	NA	stopgain	ARHGEF37:NM_001001669:exon9:c.A1087T:p.K363X	exonic	ARHGEF37	NA	unknown	UNKNOWN
EGBC1	chr5	160632308	160632308	G	A	ATP10B	Nonsense_Mutation	NM_001366652	exon12	c.C1441T	p.Q481X	SNP	all_mutianno	exonic	ATP10B	NA	stopgain	ATP10B:NM_001366652:exon12:c.C1441T:p.Q481X,ATP10B:NM_001366655:exon12:c.C1441T:p.Q481X,ATP10B:NM_001366657:exon12:c.C1405T:p.Q469X,ATP10B:NM_025153:exon13:c.C1441T:p.Q481X	exonic	ATP10B	NA	unknown	UNKNOWN
EGBC1	chr6	3850308	3850308	G	A	FAM50B	Missense_Mutation	NM_012135	exon2	c.G497A	p.R166Q	SNP	all_mutianno	exonic	FAM50B	NA	nonsynonymous SNV	FAM50B:NM_012135:exon2:c.G497A:p.R166Q	exonic	FAM50B	NA	unknown	UNKNOWN
EGBC1	chr6	36721483	36721483	C	T	RAB44	Missense_Mutation	NM_001257357	exon9	c.C1349T	p.P450L	SNP	all_mutianno	exonic	RAB44	NA	nonsynonymous SNV	RAB44:NM_001257357:exon9:c.C1349T:p.P450L	exonic	RAB44	NA	unknown	UNKNOWN
EGBC1	chr6	42922242	42922242	C	T	PTCRA	Missense_Mutation	NM_001243169	exon2	c.C83T	p.P28L	SNP	all_mutianno	exonic	PTCRA	NA	nonsynonymous SNV	PTCRA:NM_001243169:exon2:c.C83T:p.P28L	exonic	PTCRA	NA	nonsynonymous SNV	PTCRA:ENST00000441198.4:exon2:c.C83T:p.P28L
EGBC1	chr6	63280541	63280541	A	G	LGSN	Missense_Mutation	NM_016571	exon4	c.T1010C	p.L337P	SNP	all_mutianno	exonic	LGSN	NA	nonsynonymous SNV	LGSN:NM_016571:exon4:c.T1010C:p.L337P,LGSN:NM_001143940:exon5:c.T589C:p.S197P	exonic	LGSN	NA	nonsynonymous SNV	LGSN:ENST00000370657.8:exon4:c.T1010C:p.L337P,LGSN:ENST00000370658.9:exon5:c.T589C:p.S197P
EGBC1	chr6	114062814	114062814	T	A	HS3ST5	Missense_Mutation	NM_153612	exon1	c.A32T	p.Q11L	SNP	all_mutianno	exonic	HS3ST5	NA	nonsynonymous SNV	HS3ST5:NM_153612:exon1:c.A32T:p.Q11L	exonic	HS3ST5	NA	nonsynonymous SNV	HS3ST5:ENST00000411826.1:exon1:c.A32T:p.Q11L,HS3ST5:ENST00000312719.9:exon4:c.A32T:p.Q11L
EGBC1	chr7	18027253	18027253	C	G	PRPS1L1	Missense_Mutation	NM_175886	exon1	c.G530C	p.R177T	SNP	all_mutianno	exonic	PRPS1L1	NA	nonsynonymous SNV	PRPS1L1:NM_175886:exon1:c.G530C:p.R177T	exonic	PRPS1L1	NA	nonsynonymous SNV	PRPS1L1:ENST00000638645.1:exon1:c.G530C:p.R177T
EGBC1	chr7	20784483	20784483	C	T	SP8	Missense_Mutation	NM_182700	exon2	c.G1334A	p.R445H	SNP	all_mutianno	exonic	SP8	NA	nonsynonymous SNV	SP8:NM_182700:exon2:c.G1334A:p.R445H,SP8:NM_198956:exon3:c.G1280A:p.R427H	exonic	SP8	NA	nonsynonymous SNV	SP8:ENST00000418710.2:exon2:c.G1334A:p.R445H,SP8:ENST00000361443.4:exon3:c.G1280A:p.R427H,SP8:ENST00000617581.4:exon3:c.G1208A:p.R403H
EGBC1	chr7	77627018	77627018	C	CCAAAAAGTTTTGATGGGAACA	PTPN12	In_Frame_Ins	NM_001131009	exon12	c.949_950insCAAAAAGTTTTGATGGGAACA	p.T324_L325insKSFDGNT	INS	all_mutianno	exonic	PTPN12	NA	nonframeshift insertion	PTPN12:NM_001131009:exon12:c.949_950insCAAAAAGTTTTGATGGGAACA:p.T324_L325insKSFDGNT,PTPN12:NM_001131008:exon13:c.982_983insCAAAAAGTTTTGATGGGAACA:p.T335_L336insKSFDGNT,PTPN12:NM_002835:exon13:c.1339_1340insCAAAAAGTTTTGATGGGAACA:p.T454_L455insKSFDGNT	exonic	PTPN12	NA	nonframeshift insertion	PTPN12:ENST00000435495.6:exon12:c.949_950insCAAAAAGTTTTGATGGGAACA:p.T324_L325insKSFDGNT,PTPN12:ENST00000415482.6:exon13:c.982_983insCAAAAAGTTTTGATGGGAACA:p.T335_L336insKSFDGNT
EGBC1	chr7	117792713	117792713	C	A	CTTNBP2	Missense_Mutation	NM_001363349	exon4	c.G429T	p.E143D	SNP	all_mutianno	exonic	CTTNBP2	NA	nonsynonymous SNV	CTTNBP2:NM_001363349:exon4:c.G429T:p.E143D,CTTNBP2:NM_033427:exon4:c.G483T:p.E161D	exonic	CTTNBP2	NA	unknown	UNKNOWN
EGBC1	chr7	122304040	122304040	C	T	FEZF1	Missense_Mutation	NM_001024613	exon1	c.G398A	p.R133H	SNP	all_mutianno	exonic	FEZF1	NA	nonsynonymous SNV	FEZF1:NM_001024613:exon1:c.G398A:p.R133H,FEZF1:NM_001160264:exon1:c.G398A:p.R133H	exonic	FEZF1	NA	nonsynonymous SNV	FEZF1:ENST00000427185.2:exon1:c.G398A:p.R133H
EGBC1	chr7	132838462	132838462	T	A	CHCHD3	Missense_Mutation	NM_017812	exon6	c.A461T	p.E154V	SNP	all_mutianno	exonic	CHCHD3	NA	nonsynonymous SNV	CHCHD3:NM_017812:exon6:c.A461T:p.E154V,CHCHD3:NM_001317177:exon7:c.A476T:p.E159V	exonic	CHCHD3	NA	unknown	UNKNOWN
EGBC1	chr8	7358349	7358349	C	A	ZNF705G	Missense_Mutation	NM_001164457	exon7	c.G530T	p.C177F	SNP	all_mutianno	exonic	ZNF705G	NA	nonsynonymous SNV	ZNF705G:NM_001164457:exon7:c.G530T:p.C177F	exonic	ZNF705G	NA	nonsynonymous SNV	ZNF705G:ENST00000400156.4:exon7:c.G530T:p.C177F
EGBC1	chr8	52940596	52940596	T	A	NPBWR1	Missense_Mutation	NM_005285	exon2	c.T689A	p.L230Q	SNP	all_mutianno	exonic	NPBWR1	NA	nonsynonymous SNV	NPBWR1:NM_005285:exon2:c.T689A:p.L230Q	exonic	NPBWR1	NA	nonsynonymous SNV	NPBWR1:ENST00000331251.3:exon1:c.T689A:p.L230Q
EGBC1	chr8	60741968	60741968	C	T	CHD7	Missense_Mutation	NM_001316690	exon1	c.C536T	p.A179V	SNP	all_mutianno	exonic	CHD7	NA	nonsynonymous SNV	CHD7:NM_001316690:exon1:c.C536T:p.A179V,CHD7:NM_017780:exon2:c.C536T:p.A179V	exonic	CHD7	NA	nonsynonymous SNV	CHD7:ENST00000524602.5:exon1:c.C536T:p.A179V,CHD7:ENST00000525508.1:exon1:c.C536T:p.A179V
EGBC1	chr8	93808852	93808852	A	T	TMEM67	Missense_Mutation	NM_153704	exon24	c.A2452T	p.S818C	SNP	all_mutianno	exonic	TMEM67	NA	nonsynonymous SNV	TMEM67:NM_153704:exon24:c.A2452T:p.S818C,TMEM67:NM_001142301:exon25:c.A2209T:p.S737C	exonic	TMEM67	NA	nonsynonymous SNV	TMEM67:ENST00000453321.7:exon24:c.A2452T:p.S818C,TMEM67:ENST00000409623.7:exon25:c.A2209T:p.S737C
EGBC1	chr8	103414857	103414857	T	C	SLC25A32	Missense_Mutation	NM_030780	exon1	c.A81G	p.I27M	SNP	all_mutianno	exonic	SLC25A32	NA	nonsynonymous SNV	SLC25A32:NM_030780:exon1:c.A81G:p.I27M	exonic	SLC25A32	NA	unknown	UNKNOWN
EGBC1	chr9	990421	990421	G	T	DMRT3	Missense_Mutation	NM_021240	exon2	c.G835T	p.V279L	SNP	all_mutianno	exonic	DMRT3	NA	nonsynonymous SNV	DMRT3:NM_021240:exon2:c.G835T:p.V279L	exonic	DMRT3	NA	unknown	UNKNOWN
EGBC1	chr9	8341740	8341740	G	T	PTPRD	Missense_Mutation	NM_130393	exon23	c.C3652A	p.Q1218K	SNP	all_mutianno	exonic	PTPRD	NA	nonsynonymous SNV	PTPRD:NM_130393:exon23:c.C3652A:p.Q1218K,PTPRD:NM_001040712:exon24:c.C3670A:p.Q1224K,PTPRD:NM_001171025:exon24:c.C3679A:p.Q1227K,PTPRD:NM_001377947:exon24:c.C3661A:p.Q1221K,PTPRD:NM_001377946:exon25:c.C3691A:p.Q1231K,PTPRD:NM_130392:exon25:c.C3682A:p.Q1228K,PTPRD:NM_130391:exon26:c.C3679A:p.Q1227K,PTPRD:NM_001378058:exon31:c.C4915A:p.Q1639K,PTPRD:NM_001377958:exon32:c.C4960A:p.Q1654K,PTPRD:NM_002839:exon40:c.C4900A:p.Q1634K	exonic	PTPRD	NA	nonsynonymous SNV	PTPRD:ENST00000397606.7:exon23:c.C3679A:p.Q1227K,PTPRD:ENST00000397617.7:exon23:c.C3679A:p.Q1227K,PTPRD:ENST00000537002.5:exon23:c.C3652A:p.Q1218K,PTPRD:ENST00000397611.7:exon24:c.C3670A:p.Q1224K,PTPRD:ENST00000355233.9:exon25:c.C3682A:p.Q1228K,PTPRD:ENST00000486161.5:exon25:c.C3679A:p.Q1227K,PTPRD:ENST00000356435.9:exon29:c.C4900A:p.Q1634K,PTPRD:ENST00000540109.5:exon29:c.C4900A:p.Q1634K,PTPRD:ENST00000381196.8:exon37:c.C4900A:p.Q1634K
EGBC1	chr9	18661983	18661983	T	A	ADAMTSL1	Missense_Mutation	NM_001040272	exon9	c.T995A	p.V332E	SNP	all_mutianno	exonic	ADAMTSL1	NA	nonsynonymous SNV	ADAMTSL1:NM_001040272:exon9:c.T995A:p.V332E,ADAMTSL1:NM_052866:exon9:c.T995A:p.V332E	exonic	ADAMTSL1	NA	nonsynonymous SNV	ADAMTSL1:ENST00000276935.6:exon9:c.T995A:p.V332E,ADAMTSL1:ENST00000327883.11:exon9:c.T995A:p.V332E,ADAMTSL1:ENST00000380566.8:exon9:c.T995A:p.V332E
EGBC1	chr9	19276265	19276265	C	T	DENND4C	Missense_Mutation	NM_001330640	exon2	c.C91T	p.R31C	SNP	all_mutianno	exonic	DENND4C	NA	nonsynonymous SNV	DENND4C:NM_001330640:exon2:c.C91T:p.R31C,DENND4C:NM_017925:exon2:c.C91T:p.R31C	exonic	DENND4C	NA	nonsynonymous SNV	DENND4C:ENST00000434457.6:exon2:c.C91T:p.R31C,DENND4C:ENST00000602925.5:exon2:c.C91T:p.R31C
EGBC1	chr9	68479435	68479435	G	A	PGM5	Missense_Mutation	NM_021965	exon8	c.G1177A	p.E393K	SNP	all_mutianno	exonic	PGM5	NA	nonsynonymous SNV	PGM5:NM_021965:exon8:c.G1177A:p.E393K	exonic	PGM5	NA	unknown	UNKNOWN
EGBC1	chr9	81991216	81991216	C	A	SPATA31D1	Missense_Mutation	NM_001001670	exon4	c.C746A	p.P249Q	SNP	all_mutianno	exonic	SPATA31D1	NA	nonsynonymous SNV	SPATA31D1:NM_001001670:exon4:c.C746A:p.P249Q	exonic	SPATA31D1	NA	nonsynonymous SNV	SPATA31D1:ENST00000344803.2:exon4:c.C746A:p.P249Q
EGBC1	chr9	94453958	94453966	ACGGCCTTT	A	MFSD14B	Nonsense_Mutation	NM_032558	exon9	c.917_924del	p.A307*	DEL	all_mutianno	exonic	MFSD14B	NA	stopgain	MFSD14B:NM_032558:exon9:c.917_924del:p.A307*	exonic	MFSD14B	NA	stopgain	MFSD14B:ENST00000428393.3:exon3:c.32_39del:p.A12*,MFSD14B:ENST00000375344.7:exon9:c.917_924del:p.A307*
EGBC1	chr9	99142592	99142592	C	G	TGFBR1	Missense_Mutation	NM_001130916	exon4	c.C631G	p.L211V	SNP	all_mutianno	exonic	TGFBR1	NA	nonsynonymous SNV	TGFBR1:NM_001130916:exon4:c.C631G:p.L211V,TGFBR1:NM_001306210:exon5:c.C874G:p.L292V,TGFBR1:NM_004612:exon5:c.C862G:p.L288V	exonic	TGFBR1	NA	nonsynonymous SNV	TGFBR1:ENST00000374990.6:exon4:c.C631G:p.L211V,TGFBR1:ENST00000550253.1:exon5:c.C655G:p.L219V,TGFBR1:ENST00000552516.5:exon5:c.C874G:p.L292V
EGBC1	chr9	121193369	121193369	A	C	RAB14	Missense_Mutation	NM_016322	exon2	c.T44G	p.I15S	SNP	all_mutianno	exonic	RAB14	NA	nonsynonymous SNV	RAB14:NM_016322:exon2:c.T44G:p.I15S	exonic	RAB14	NA	unknown	UNKNOWN
EGBC1	chr10	5740374	5740374	T	C	TASOR2	Missense_Mutation	NM_001321785	exon13	c.T1961C	p.I654T	SNP	all_mutianno	exonic	TASOR2	NA	nonsynonymous SNV	TASOR2:NM_001321785:exon13:c.T1961C:p.I654T,TASOR2:NM_017782:exon13:c.T2204C:p.I735T,TASOR2:NM_001321783:exon14:c.T2204C:p.I735T,TASOR2:NM_001321784:exon14:c.T2204C:p.I735T	exonic	FAM208B	NA	nonsynonymous SNV	FAM208B:ENST00000328090.9:exon13:c.T2204C:p.I735T
EGBC1	chr10	24619560	24619560	G	A	ARHGAP21	Nonsense_Mutation	NM_001367455	exon2	c.C1696T	p.R566X	SNP	all_mutianno	exonic	ARHGAP21	NA	stopgain	ARHGAP21:NM_001367455:exon2:c.C1696T:p.R566X,ARHGAP21:NM_001367452:exon6:c.C1864T:p.R622X,ARHGAP21:NM_001367447:exon8:c.C2305T:p.R769X,ARHGAP21:NM_001367451:exon8:c.C2305T:p.R769X,ARHGAP21:NM_001367453:exon8:c.C2305T:p.R769X,ARHGAP21:NM_001367448:exon9:c.C2335T:p.R779X,ARHGAP21:NM_001367454:exon9:c.C2335T:p.R779X,ARHGAP21:NM_020824:exon9:c.C2335T:p.R779X,ARHGAP21:NM_001367449:exon10:c.C2041T:p.R681X,ARHGAP21:NM_001367450:exon11:c.C2041T:p.R681X	exonic	ARHGAP21	NA	stopgain	ARHGAP21:ENST00000636789.1:exon2:c.C1696T:p.R566X,ARHGAP21:ENST00000376410.6:exon7:c.C2305T:p.R769X
EGBC1	chr10	26245992	26245992	T	A	GAD2	Nonsense_Mutation	NM_000818	exon8	c.T912A	p.C304X	SNP	all_mutianno	exonic	GAD2	NA	stopgain	GAD2:NM_000818:exon8:c.T912A:p.C304X,GAD2:NM_001134366:exon8:c.T912A:p.C304X	exonic	GAD2	NA	stopgain	GAD2:ENST00000259271.7:exon8:c.T912A:p.C304X
EGBC1	chr10	47474328	47474328	C	T	ANXA8	Missense_Mutation	NM_001271703	exon6	c.G437A	p.R146H	SNP	all_mutianno	exonic	ANXA8	NA	nonsynonymous SNV	ANXA8:NM_001271703:exon6:c.G437A:p.R146H,ANXA8:NM_001040084:exon8:c.G623A:p.R208H,ANXA8:NM_001271702:exon8:c.G737A:p.R246H	exonic	ANXA8	NA	nonsynonymous SNV	ANXA8:ENST00000583874.5:exon6:c.G566A:p.R189H,ANXA8:ENST00000583911.5:exon6:c.G437A:p.R146H,ANXA8:ENST00000585281.5:exon8:c.G623A:p.R208H,ANXA8:ENST00000611843.4:exon8:c.G737A:p.R246H
EGBC1	chr10	49326301	49326301	G	T	C10orf71	Missense_Mutation	NM_001135196	exon3	c.G3756T	p.E1252D	SNP	all_mutianno	exonic	C10orf71	NA	nonsynonymous SNV	C10orf71:NM_001135196:exon3:c.G3756T:p.E1252D	exonic	C10orf71	NA	unknown	UNKNOWN
EGBC1	chr10	70532682	70532682	T	A	PALD1	Missense_Mutation	NM_014431	exon6	c.T695A	p.L232Q	SNP	all_mutianno	exonic	PALD1	NA	nonsynonymous SNV	PALD1:NM_014431:exon6:c.T695A:p.L232Q	exonic	PALD1	NA	unknown	UNKNOWN
EGBC1	chr10	99387925	99387925	C	A	CNNM1	Missense_Mutation	NM_001345888	exon8	c.C2446A	p.P816T	SNP	all_mutianno	exonic	CNNM1	NA	nonsynonymous SNV	CNNM1:NM_001345888:exon8:c.C2446A:p.P816T,CNNM1:NM_020348:exon8:c.C2446A:p.P816T,CNNM1:NM_001345887:exon9:c.C2509A:p.P837T,CNNM1:NM_001345889:exon9:c.C2509A:p.P837T	exonic	CNNM1	NA	unknown	UNKNOWN
EGBC1	chr10	122331225	122331225	G	T	BTBD16	Missense_Mutation	NM_001318189	exon12	c.G1056T	p.W352C	SNP	all_mutianno	exonic	BTBD16	NA	nonsynonymous SNV	BTBD16:NM_001318189:exon12:c.G1056T:p.W352C,BTBD16:NM_144587:exon12:c.G1053T:p.W351C	exonic	BTBD16	NA	nonsynonymous SNV	BTBD16:ENST00000260723.4:exon12:c.G1053T:p.W351C
EGBC1	chr11	3731478	3731478	A	G	NUP98	Missense_Mutation	NM_001365129	exon13	c.T1502C	p.L501S	SNP	all_mutianno	exonic	NUP98	NA	nonsynonymous SNV	NUP98:NM_001365129:exon13:c.T1502C:p.L501S,NUP98:NM_001365125:exon14:c.T1643C:p.L548S,NUP98:NM_001365126:exon14:c.T1694C:p.L565S,NUP98:NM_001365127:exon14:c.T1619C:p.L540S,NUP98:NM_001365128:exon14:c.T1592C:p.L531S,NUP98:NM_005387:exon14:c.T1694C:p.L565S,NUP98:NM_016320:exon14:c.T1643C:p.L548S,NUP98:NM_139131:exon14:c.T1643C:p.L548S,NUP98:NM_139132:exon14:c.T1643C:p.L548S	exonic	NUP98	NA	nonsynonymous SNV	NUP98:ENST00000355260.7:exon14:c.T1643C:p.L548S,NUP98:ENST00000359171.8:exon14:c.T1694C:p.L565S,NUP98:ENST00000397004.8:exon14:c.T1643C:p.L548S,NUP98:ENST00000397007.8:exon14:c.T1694C:p.L565S
EGBC1	chr11	8649829	8649829	C	A	TRIM66	Missense_Mutation	NM_014818	exon3	c.G68T	p.R23L	SNP	all_mutianno	exonic	TRIM66	NA	nonsynonymous SNV	TRIM66:NM_014818:exon3:c.G68T:p.R23L	exonic	TRIM66	NA	nonsynonymous SNV	TRIM66:ENST00000299550.10:exon3:c.G68T:p.R23L,TRIM66:ENST00000402157.6:exon5:c.G68T:p.R23L
EGBC1	chr11	26994803	26994803	G	A	FIBIN	Missense_Mutation	NM_203371	exon1	c.G277A	p.D93N	SNP	all_mutianno	exonic	FIBIN	NA	nonsynonymous SNV	FIBIN:NM_203371:exon1:c.G277A:p.D93N	exonic	FIBIN	NA	nonsynonymous SNV	FIBIN:ENST00000318627.3:exon1:c.G277A:p.D93N
EGBC1	chr11	46374202	46374202	G	A	DGKZ	Missense_Mutation	NM_001199268	exon14	c.G1303A	p.A435T	SNP	all_mutianno	exonic	DGKZ	NA	nonsynonymous SNV	DGKZ:NM_001199268:exon14:c.G1303A:p.A435T,DGKZ:NM_001199266:exon15:c.G1372A:p.A458T,DGKZ:NM_001199267:exon15:c.G1369A:p.A457T,DGKZ:NM_003646:exon15:c.G1372A:p.A458T,DGKZ:NM_201532:exon15:c.G1420A:p.A474T,DGKZ:NM_201533:exon15:c.G1384A:p.A462T,DGKZ:NM_001105540:exon16:c.G1936A:p.A646T	exonic	DGKZ	NA	nonsynonymous SNV	DGKZ:ENST00000528615.5:exon12:c.G706A:p.A236T,DGKZ:ENST00000318201.12:exon14:c.G1303A:p.A435T,DGKZ:ENST00000343674.10:exon15:c.G1420A:p.A474T,DGKZ:ENST00000421244.6:exon15:c.G1372A:p.A458T,DGKZ:ENST00000456247.6:exon15:c.G1369A:p.A457T,DGKZ:ENST00000527911.5:exon15:c.G1372A:p.A458T,DGKZ:ENST00000532868.6:exon15:c.G1384A:p.A462T,DGKZ:ENST00000454345.5:exon16:c.G1936A:p.A646T
EGBC1	chr11	49034320	49034320	G	T	TRIM49B	Nonsense_Mutation	NM_001206626	exon4	c.G682T	p.G228X	SNP	all_mutianno	exonic	TRIM49B	NA	stopgain	TRIM49B:NM_001206626:exon4:c.G682T:p.G228X	exonic	TRIM49B	NA	stopgain	TRIM49B:ENST00000332682.8:exon4:c.G682T:p.G228X,TRIM49B:ENST00000622138.4:exon5:c.G682T:p.G228X
EGBC1	chr11	55968188	55968188	C	A	OR10AG1	Missense_Mutation	NM_001005491	exon1	c.G276T	p.M92I	SNP	all_mutianno	exonic	OR10AG1	NA	nonsynonymous SNV	OR10AG1:NM_001005491:exon1:c.G276T:p.M92I	exonic	OR10AG1	NA	unknown	UNKNOWN
EGBC1	chr11	56122775	56122775	A	T	OR8H3	Missense_Mutation	NM_001005201	exon1	c.A403T	p.I135F	SNP	all_mutianno	exonic	OR8H3	NA	nonsynonymous SNV	OR8H3:NM_001005201:exon1:c.A403T:p.I135F	exonic	OR8H3	NA	nonsynonymous SNV	OR8H3:ENST00000313472.3:exon1:c.A403T:p.I135F
EGBC1	chr11	59657598	59657598	G	T	PATL1	Missense_Mutation	NM_152716	exon5	c.C553A	p.P185T	SNP	all_mutianno	exonic	PATL1	NA	nonsynonymous SNV	PATL1:NM_152716:exon5:c.C553A:p.P185T	exonic	PATL1	NA	unknown	UNKNOWN
EGBC1	chr11	68773314	68773314	G	A	CPT1A	Missense_Mutation	NM_001031847	exon14	c.C1691T	p.T564M	SNP	all_mutianno	exonic	CPT1A	NA	nonsynonymous SNV	CPT1A:NM_001031847:exon14:c.C1691T:p.T564M,CPT1A:NM_001876:exon14:c.C1691T:p.T564M	exonic	CPT1A	NA	nonsynonymous SNV	CPT1A:ENST00000539743.5:exon13:c.C1691T:p.T564M,CPT1A:ENST00000540367.5:exon13:c.C1691T:p.T564M,CPT1A:ENST00000376618.6:exon14:c.C1691T:p.T564M
EGBC1	chr11	101128661	101128661	G	T	PGR	Missense_Mutation	NM_000926	exon1	c.C410A	p.T137N	SNP	all_mutianno	exonic	PGR	NA	nonsynonymous SNV	PGR:NM_000926:exon1:c.C410A:p.T137N	exonic	PGR	NA	nonsynonymous SNV	PGR:ENST00000263463.9:exon1:c.C410A:p.T137N,PGR:ENST00000325455.9:exon1:c.C410A:p.T137N,PGR:ENST00000617858.4:exon1:c.C410A:p.T137N,PGR:ENST00000619228.2:exon1:c.C410A:p.T137N
EGBC1	chr11	134383736	134383736	C	T	B3GAT1	Missense_Mutation	NM_054025	exon3	c.G565A	p.G189S	SNP	all_mutianno	exonic	B3GAT1	NA	nonsynonymous SNV	B3GAT1:NM_054025:exon3:c.G565A:p.G189S,B3GAT1:NM_001367973:exon4:c.G604A:p.G202S,B3GAT1:NM_018644:exon4:c.G565A:p.G189S	exonic	B3GAT1	NA	nonsynonymous SNV	B3GAT1:ENST00000524765.1:exon3:c.G565A:p.G189S,B3GAT1:ENST00000392580.5:exon4:c.G565A:p.G189S
EGBC1	chr12	25245350	25245350	C	T	KRAS	Missense_Mutation	NM_001369786	exon2	c.G35A	p.G12D	SNP	all_mutianno	exonic	KRAS	NA	nonsynonymous SNV	KRAS:NM_001369786:exon2:c.G35A:p.G12D,KRAS:NM_001369787:exon2:c.G35A:p.G12D,KRAS:NM_004985:exon2:c.G35A:p.G12D,KRAS:NM_033360:exon2:c.G35A:p.G12D	exonic	KRAS	NA	nonsynonymous SNV	KRAS:ENST00000256078.8:exon2:c.G35A:p.G12D,KRAS:ENST00000311936.7:exon2:c.G35A:p.G12D,KRAS:ENST00000556131.1:exon2:c.G35A:p.G12D,KRAS:ENST00000557334.5:exon2:c.G35A:p.G12D
EGBC1	chr12	48776459	48776459	C	T	ADCY6	Missense_Mutation	NM_015270	exon7	c.G1504A	p.A502T	SNP	all_mutianno	exonic	ADCY6	NA	nonsynonymous SNV	ADCY6:NM_015270:exon7:c.G1504A:p.A502T	exonic	ADCY6	NA	nonsynonymous SNV	ADCY6:ENST00000307885.4:exon6:c.G1504A:p.A502T,ADCY6:ENST00000357869.7:exon6:c.G1504A:p.A502T,ADCY6:ENST00000550422.5:exon7:c.G1504A:p.A502T
EGBC1	chr12	78168818	78168818	C	A	NAV3	Missense_Mutation	NM_001024383	exon24	c.C4933A	p.Q1645K	SNP	all_mutianno	exonic	NAV3	NA	nonsynonymous SNV	NAV3:NM_001024383:exon24:c.C4933A:p.Q1645K,NAV3:NM_014903:exon24:c.C4933A:p.Q1645K	exonic	NAV3	NA	nonsynonymous SNV	NAV3:ENST00000536525.6:exon24:c.C4933A:p.Q1645K
EGBC1	chr12	109139836	109139836	C	A	ACACB	Missense_Mutation	NM_001093	exon2	c.C431A	p.A144D	SNP	all_mutianno	exonic	ACACB	NA	nonsynonymous SNV	ACACB:NM_001093:exon2:c.C431A:p.A144D	exonic	ACACB	NA	nonsynonymous SNV	ACACB:ENST00000377848.7:exon1:c.C431A:p.A144D,ACACB:ENST00000338432.11:exon2:c.C431A:p.A144D
EGBC1	chr12	113471467	113471467	G	T	LHX5	Missense_Mutation	NM_022363	exon1	c.C32A	p.P11H	SNP	all_mutianno	exonic	LHX5	NA	nonsynonymous SNV	LHX5:NM_022363:exon1:c.C32A:p.P11H	exonic	LHX5	NA	unknown	UNKNOWN
EGBC1	chr12	122797375	122797375	G	A	CCDC62	Missense_Mutation	NM_201435	exon7	c.G841A	p.E281K	SNP	all_mutianno	exonic	CCDC62	NA	nonsynonymous SNV	CCDC62:NM_201435:exon7:c.G841A:p.E281K	exonic	CCDC62	NA	nonsynonymous SNV	CCDC62:ENST00000392440.3:exon3:c.G286A:p.E96K,CCDC62:ENST00000537566.5:exon3:c.G124A:p.E42K,CCDC62:ENST00000253079.10:exon7:c.G841A:p.E281K,CCDC62:ENST00000392441.8:exon7:c.G841A:p.E281K
EGBC1	chr12	132926007	132926007	A	G	ZNF605	Missense_Mutation	NM_001164715	exon5	c.T1385C	p.F462S	SNP	all_mutianno	exonic	ZNF605	NA	nonsynonymous SNV	ZNF605:NM_001164715:exon5:c.T1385C:p.F462S,ZNF605:NM_183238:exon5:c.T1292C:p.F431S	exonic	ZNF605	NA	nonsynonymous SNV	ZNF605:ENST00000392321.3:exon5:c.T1385C:p.F462S
EGBC1	chr13	114024330	114024330	T	C	RASA3	Missense_Mutation	NM_001320822	exon8	c.A533G	p.K178R	SNP	all_mutianno	exonic	RASA3	NA	nonsynonymous SNV	RASA3:NM_001320822:exon8:c.A533G:p.K178R,RASA3:NM_007368:exon8:c.A629G:p.K210R	exonic	RASA3	NA	unknown	UNKNOWN
EGBC1	chr14	67726152	67726152	C	A	RDH12	Missense_Mutation	NM_152443	exon6	c.C445A	p.L149M	SNP	all_mutianno	exonic	RDH12	NA	nonsynonymous SNV	RDH12:NM_152443:exon6:c.C445A:p.L149M	exonic	RDH12	NA	nonsynonymous SNV	RDH12:ENST00000267502.3:exon5:c.C445A:p.L149M,RDH12:ENST00000551171.5:exon6:c.C445A:p.L149M
EGBC1	chr14	92004740	92004740	G	A	TRIP11	Missense_Mutation	NM_001321851	exon11	c.C3233T	p.S1078F	SNP	all_mutianno	exonic	TRIP11	NA	nonsynonymous SNV	TRIP11:NM_001321851:exon11:c.C3233T:p.S1078F,TRIP11:NM_004239:exon11:c.C3236T:p.S1079F	exonic	TRIP11	NA	nonsynonymous SNV	TRIP11:ENST00000267622.8:exon11:c.C3236T:p.S1079F
EGBC1	chr15	57706952	57706952	A	G	POLR2M	Missense_Mutation	NM_001018102	exon1	c.A110G	p.N37S	SNP	all_mutianno	exonic	POLR2M	NA	nonsynonymous SNV	POLR2M:NM_001018102:exon1:c.A110G:p.N37S,POLR2M:NM_015532:exon1:c.A110G:p.N37S	exonic	POLR2M	NA	nonsynonymous SNV	POLR2M:ENST00000380557.4:exon1:c.A110G:p.N37S
EGBC1	chr15	73998447	73998447	C	A	PML	Missense_Mutation	NM_002675	exon2	c.C573A	p.N191K	SNP	all_mutianno	exonic	PML	NA	nonsynonymous SNV	PML:NM_002675:exon2:c.C573A:p.N191K,PML:NM_033238:exon2:c.C573A:p.N191K,PML:NM_033239:exon2:c.C573A:p.N191K,PML:NM_033240:exon2:c.C573A:p.N191K,PML:NM_033244:exon2:c.C573A:p.N191K,PML:NM_033246:exon2:c.C573A:p.N191K,PML:NM_033247:exon2:c.C573A:p.N191K,PML:NM_033249:exon2:c.C573A:p.N191K,PML:NM_033250:exon2:c.C573A:p.N191K	exonic	PML	NA	nonsynonymous SNV	PML:ENST00000268058.7:exon2:c.C573A:p.N191K,PML:ENST00000268059.10:exon2:c.C573A:p.N191K,PML:ENST00000354026.10:exon2:c.C573A:p.N191K,PML:ENST00000359928.8:exon2:c.C573A:p.N191K,PML:ENST00000395132.6:exon2:c.C573A:p.N191K,PML:ENST00000395135.7:exon2:c.C573A:p.N191K,PML:ENST00000435786.6:exon2:c.C573A:p.N191K,PML:ENST00000436891.7:exon2:c.C573A:p.N191K,PML:ENST00000563500.5:exon2:c.C573A:p.N191K,PML:ENST00000564428.5:exon2:c.C573A:p.N191K,PML:ENST00000565898.5:exon2:c.C573A:p.N191K,PML:ENST00000567543.5:exon2:c.C573A:p.N191K,PML:ENST00000569477.5:exon2:c.C573A:p.N191K,PML:ENST00000569965.5:exon2:c.C573A:p.N191K
EGBC1	chr15	75392672	75392672	C	A	SIN3A	Missense_Mutation	NM_001145357	exon15	c.G2421T	p.E807D	SNP	all_mutianno	exonic	SIN3A	NA	nonsynonymous SNV	SIN3A:NM_001145357:exon15:c.G2421T:p.E807D,SIN3A:NM_001145358:exon15:c.G2421T:p.E807D,SIN3A:NM_015477:exon15:c.G2421T:p.E807D	exonic	SIN3A	NA	nonsynonymous SNV	SIN3A:ENST00000360439.8:exon15:c.G2421T:p.E807D,SIN3A:ENST00000394947.7:exon15:c.G2421T:p.E807D,SIN3A:ENST00000394949.8:exon15:c.G2421T:p.E807D
EGBC1	chr15	83890149	83890149	G	C	ADAMTSL3	Missense_Mutation	NM_001301110	exon11	c.G1113C	p.L371F	SNP	all_mutianno	exonic	ADAMTSL3	NA	nonsynonymous SNV	ADAMTSL3:NM_001301110:exon11:c.G1113C:p.L371F,ADAMTSL3:NM_207517:exon11:c.G1113C:p.L371F	exonic	ADAMTSL3	NA	nonsynonymous SNV	ADAMTSL3:ENST00000567476.1:exon11:c.G1113C:p.L371F
EGBC1	chr15	85123124	85123124	G	C	PDE8A	Missense_Mutation	NM_173454	exon18	c.G1878C	p.K626N	SNP	all_mutianno	exonic	PDE8A	NA	nonsynonymous SNV	PDE8A:NM_173454:exon18:c.G1878C:p.K626N,PDE8A:NM_001243137:exon19:c.G1800C:p.K600N,PDE8A:NM_002605:exon19:c.G2016C:p.K672N	exonic	PDE8A	NA	nonsynonymous SNV	PDE8A:ENST00000339708.9:exon18:c.G1878C:p.K626N,PDE8A:ENST00000557957.5:exon19:c.G1800C:p.K600N,PDE8A:ENST00000310298.8:exon20:c.G2016C:p.K672N
EGBC1	chr16	3141214	3141214	T	G	ZNF213	Missense_Mutation	NM_001134655	exon6	c.T1247G	p.L416R	SNP	all_mutianno	exonic	ZNF213	NA	nonsynonymous SNV	ZNF213:NM_001134655:exon6:c.T1247G:p.L416R,ZNF213:NM_004220:exon6:c.T1247G:p.L416R	exonic	ZNF213	NA	nonsynonymous SNV	ZNF213:ENST00000396878.7:exon6:c.T1247G:p.L416R,ZNF213:ENST00000416391.6:exon6:c.T1247G:p.L416R,ZNF213:ENST00000576416.5:exon6:c.T1247G:p.L416R,ZNF213:ENST00000574902.5:exon7:c.T1247G:p.L416R
EGBC1	chr16	47499860	47499860	G	T	PHKB	Missense_Mutation	NM_000293	exon3	c.G271T	p.A91S	SNP	all_mutianno	exonic	PHKB	NA	nonsynonymous SNV	PHKB:NM_000293:exon3:c.G271T:p.A91S,PHKB:NM_001363837:exon3:c.G271T:p.A91S,PHKB:NM_001031835:exon4:c.G250T:p.A84S	exonic	PHKB	NA	nonsynonymous SNV	PHKB:ENST00000299167.12:exon3:c.G271T:p.A91S,PHKB:ENST00000566044.5:exon4:c.G250T:p.A84S
EGBC1	chr16	71672262	71672262	C	A	PHLPP2	Missense_Mutation	NM_001289003	exon10	c.G1532T	p.R511L	SNP	all_mutianno	exonic	PHLPP2	NA	nonsynonymous SNV	PHLPP2:NM_001289003:exon10:c.G1532T:p.R511L,PHLPP2:NM_015020:exon10:c.G1532T:p.R511L	exonic	PHLPP2	NA	nonsynonymous SNV	PHLPP2:ENST00000393524.6:exon9:c.G1532T:p.R511L,PHLPP2:ENST00000567016.1:exon10:c.G1637T:p.R546L,PHLPP2:ENST00000568954.5:exon10:c.G1532T:p.R511L
EGBC1	chr17	7674230	7674230	C	A	TP53	Missense_Mutation	NM_001126115	exon3	c.G337T	p.G113C	SNP	all_mutianno	exonic	TP53	NA	nonsynonymous SNV	TP53:NM_001126115:exon3:c.G337T:p.G113C,TP53:NM_001126116:exon3:c.G337T:p.G113C,TP53:NM_001126117:exon3:c.G337T:p.G113C,TP53:NM_001276697:exon3:c.G256T:p.G86C,TP53:NM_001276698:exon3:c.G256T:p.G86C,TP53:NM_001276699:exon3:c.G256T:p.G86C,TP53:NM_001126118:exon6:c.G616T:p.G206C,TP53:NM_000546:exon7:c.G733T:p.G245C,TP53:NM_001126112:exon7:c.G733T:p.G245C,TP53:NM_001126113:exon7:c.G733T:p.G245C,TP53:NM_001126114:exon7:c.G733T:p.G245C,TP53:NM_001276695:exon7:c.G616T:p.G206C,TP53:NM_001276696:exon7:c.G616T:p.G206C,TP53:NM_001276760:exon7:c.G616T:p.G206C,TP53:NM_001276761:exon7:c.G616T:p.G206C	exonic	TP53	NA	nonsynonymous SNV	TP53:ENST00000504290.5:exon3:c.G337T:p.G113C,TP53:ENST00000504937.5:exon3:c.G337T:p.G113C,TP53:ENST00000510385.5:exon3:c.G337T:p.G113C,TP53:ENST00000610623.4:exon3:c.G256T:p.G86C,TP53:ENST00000618944.4:exon3:c.G256T:p.G86C,TP53:ENST00000619186.4:exon3:c.G256T:p.G86C,TP53:ENST00000359597.8:exon6:c.G733T:p.G245C,TP53:ENST00000413465.6:exon6:c.G733T:p.G245C,TP53:ENST00000610292.4:exon6:c.G616T:p.G206C,TP53:ENST00000269305.8:exon7:c.G733T:p.G245C,TP53:ENST00000420246.6:exon7:c.G733T:p.G245C,TP53:ENST00000445888.6:exon7:c.G733T:p.G245C,TP53:ENST00000455263.6:exon7:c.G733T:p.G245C,TP53:ENST00000610538.4:exon7:c.G616T:p.G206C,TP53:ENST00000615910.4:exon7:c.G700T:p.G234C,TP53:ENST00000617185.4:exon7:c.G733T:p.G245C,TP53:ENST00000619485.4:exon7:c.G616T:p.G206C,TP53:ENST00000620739.4:exon7:c.G616T:p.G206C,TP53:ENST00000622645.4:exon7:c.G616T:p.G206C
EGBC1	chr17	11689935	11689935	G	T	DNAH9	Missense_Mutation	NM_001372	exon20	c.G4113T	p.R1371S	SNP	all_mutianno	exonic	DNAH9	NA	nonsynonymous SNV	DNAH9:NM_001372:exon20:c.G4113T:p.R1371S	exonic	DNAH9	NA	nonsynonymous SNV	DNAH9:ENST00000454412.6:exon20:c.G4113T:p.R1371S
EGBC1	chr18	6873474	6873474	G	T	ARHGAP28	Missense_Mutation	NM_001010000	exon7	c.G543T	p.M181I	SNP	all_mutianno	exonic	ARHGAP28	NA	nonsynonymous SNV	ARHGAP28:NM_001010000:exon7:c.G543T:p.M181I,ARHGAP28:NM_001366230:exon8:c.G1020T:p.M340I,ARHGAP28:NM_001366231:exon8:c.G1020T:p.M340I	exonic	ARHGAP28	NA	nonsynonymous SNV	ARHGAP28:ENST00000314319.7:exon6:c.G543T:p.M181I,ARHGAP28:ENST00000532996.5:exon6:c.G489T:p.M163I,ARHGAP28:ENST00000419673.6:exon7:c.G543T:p.M181I,ARHGAP28:ENST00000531294.5:exon7:c.G528T:p.M176I,ARHGAP28:ENST00000262227.7:exon8:c.G864T:p.M288I,ARHGAP28:ENST00000383472.8:exon8:c.G1020T:p.M340I
EGBC1	chr18	69896018	69896018	T	C	CD226	Missense_Mutation	NM_001303618	exon3	c.A410G	p.N137S	SNP	all_mutianno	exonic	CD226	NA	nonsynonymous SNV	CD226:NM_001303618:exon3:c.A410G:p.N137S,CD226:NM_006566:exon4:c.A410G:p.N137S	exonic	CD226	NA	nonsynonymous SNV	CD226:ENST00000280200.8:exon4:c.A410G:p.N137S
EGBC1	chr19	2515134	2515134	G	A	GNG7	Missense_Mutation	NM_052847	exon5	c.C95T	p.A32V	SNP	all_mutianno	exonic	GNG7	NA	nonsynonymous SNV	GNG7:NM_052847:exon5:c.C95T:p.A32V	exonic	GNG7	NA	unknown	UNKNOWN
EGBC1	chr19	10491714	10491714	G	C	KEAP1	Nonsense_Mutation	NM_012289	exon3	c.C1188G	p.Y396X	SNP	all_mutianno	exonic	KEAP1	NA	stopgain	KEAP1:NM_012289:exon3:c.C1188G:p.Y396X,KEAP1:NM_203500:exon3:c.C1188G:p.Y396X	exonic	KEAP1	NA	stopgain	KEAP1:ENST00000393623.6:exon3:c.C1188G:p.Y396X
EGBC1	chr20	34990282	34990282	C	A	MYH7B	Nonsense_Mutation	NM_020884	exon22	c.C2075A	p.S692X	SNP	all_mutianno	exonic	MYH7B	NA	stopgain	MYH7B:NM_020884:exon22:c.C2075A:p.S692X	exonic	MYH7B	NA	stopgain	MYH7B:ENST00000618182.4:exon19:c.C2072A:p.S691X,MYH7B:ENST00000262873.11:exon20:c.C2075A:p.S692X
EGBC1	chr20	45553202	45553202	C	T	WFDC8	Missense_Mutation	NM_130896	exon5	c.G520A	p.D174N	SNP	all_mutianno	exonic	WFDC8	NA	nonsynonymous SNV	WFDC8:NM_130896:exon5:c.G520A:p.D174N,WFDC8:NM_181510:exon5:c.G520A:p.D174N	exonic	WFDC8	NA	nonsynonymous SNV	WFDC8:ENST00000289953.2:exon5:c.G520A:p.D174N,WFDC8:ENST00000357199.8:exon5:c.G520A:p.D174N
EGBC1	chr21	26837845	26837845	C	A	ADAMTS1	Nonsense_Mutation	NM_006988	exon9	c.G2638T	p.E880X	SNP	all_mutianno	exonic	ADAMTS1	NA	stopgain	ADAMTS1:NM_006988:exon9:c.G2638T:p.E880X	exonic	ADAMTS1	NA	unknown	UNKNOWN
EGBC1	chr21	30541689	30541689	G	A	KRTAP19-6	Missense_Mutation	NM_001303120	exon1	c.C145T	p.R49C	SNP	all_mutianno	exonic	KRTAP19-6	NA	nonsynonymous SNV	KRTAP19-6:NM_001303120:exon1:c.C145T:p.R49C,KRTAP19-6:NM_181612:exon1:c.C145T:p.R49C	exonic	KRTAP19-6	NA	nonsynonymous SNV	KRTAP19-6:ENST00000334046.5:exon1:c.C145T:p.R49C
EGBC1	chr22	50531278	50531278	G	T	ODF3B	Missense_Mutation	NM_001382807	exon3	c.C260A	p.A87E	SNP	all_mutianno	exonic	ODF3B	NA	nonsynonymous SNV	ODF3B:NM_001382807:exon3:c.C260A:p.A87E	exonic	ODF3B	NA	nonsynonymous SNV	ODF3B:ENST00000401779.5:exon3:c.C260A:p.A87E,ODF3B:ENST00000405135.5:exon3:c.C377A:p.A126E
EGBC1	chrX	22190488	22190488	C	T	PHEX	Missense_Mutation	NM_000444	exon15	c.C1631T	p.S544F	SNP	all_mutianno	exonic	PHEX	NA	nonsynonymous SNV	PHEX:NM_000444:exon15:c.C1631T:p.S544F,PHEX:NM_001282754:exon15:c.C1631T:p.S544F	exonic	PHEX	NA	unknown	UNKNOWN
EGBC1	chrX	70258874	70258874	G	T	P2RY4	Missense_Mutation	NM_002565	exon1	c.C751A	p.L251M	SNP	all_mutianno	exonic	P2RY4	NA	nonsynonymous SNV	P2RY4:NM_002565:exon1:c.C751A:p.L251M	exonic	P2RY4	NA	nonsynonymous SNV	P2RY4:ENST00000374519.3:exon1:c.C751A:p.L251M
EGBC1	chrX	71604244	71604244	G	T	GCNA	Missense_Mutation	NM_052957	exon8	c.G967T	p.D323Y	SNP	all_mutianno	exonic	GCNA	NA	nonsynonymous SNV	GCNA:NM_052957:exon8:c.G967T:p.D323Y	exonic	GCNA	NA	nonsynonymous SNV	GCNA:ENST00000373695.1:exon7:c.G967T:p.D323Y,GCNA:ENST00000373696.7:exon8:c.G967T:p.D323Y
EGBC1	chrX	74304694	74304694	G	T	ZCCHC13	Missense_Mutation	NM_203303	exon1	c.G428T	p.C143F	SNP	all_mutianno	exonic	ZCCHC13	NA	nonsynonymous SNV	ZCCHC13:NM_203303:exon1:c.G428T:p.C143F	exonic	ZCCHC13	NA	nonsynonymous SNV	ZCCHC13:ENST00000339534.3:exon1:c.G428T:p.C143F
EGBC1	chrX	77447856	77447856	G	T	FGF16	Missense_Mutation	NM_003868	exon1	c.G182T	p.R61L	SNP	all_mutianno	exonic	FGF16	NA	nonsynonymous SNV	FGF16:NM_003868:exon1:c.G182T:p.R61L	exonic	FGF16	NA	nonsynonymous SNV	FGF16:ENST00000439435.2:exon1:c.G182T:p.R61L
EGBC1	chrX	102715731	102715731	G	C	ARMCX5-GPRASP2	Missense_Mutation	NM_001184875	exon4	c.G862C	p.A288P	SNP	all_mutianno	exonic	ARMCX5-GPRASP2;GPRASP2	NA	nonsynonymous SNV	GPRASP2:NM_001184875:exon4:c.G862C:p.A288P,GPRASP2:NM_138437:exon4:c.G862C:p.A288P,GPRASP2:NM_001004051:exon5:c.G862C:p.A288P,GPRASP2:NM_001184874:exon5:c.G862C:p.A288P,GPRASP2:NM_001184876:exon5:c.G862C:p.A288P,ARMCX5-GPRASP2:NM_001199818:exon7:c.G862C:p.A288P	exonic	GPRASP2	NA	nonsynonymous SNV	GPRASP2:ENST00000332262.9:exon4:c.G862C:p.A288P,GPRASP2:ENST00000535209.5:exon4:c.G862C:p.A288P,GPRASP2:ENST00000543253.5:exon5:c.G862C:p.A288P
EGBC1	chrX	110171512	110171512	C	T	TMEM164	Missense_Mutation	NM_017698	exon5	c.C232T	p.L78F	SNP	all_mutianno	exonic	TMEM164	NA	nonsynonymous SNV	TMEM164:NM_017698:exon5:c.C232T:p.L78F,TMEM164:NM_001353849:exon6:c.C679T:p.L227F,TMEM164:NM_001353850:exon6:c.C298T:p.L100F,TMEM164:NM_001353851:exon6:c.C298T:p.L100F,TMEM164:NM_032227:exon6:c.C679T:p.L227F	exonic	TMEM164	NA	nonsynonymous SNV	TMEM164:ENST00000288381.4:exon4:c.C562T:p.L188F,TMEM164:ENST00000372072.7:exon5:c.C232T:p.L78F,TMEM164:ENST00000372073.5:exon6:c.C679T:p.L227F
EGBC1	chrX	111776852	111776852	T	A	TRPC5	Nonsense_Mutation	NM_012471	exon11	c.A2383T	p.K795X	SNP	all_mutianno	exonic	TRPC5	NA	stopgain	TRPC5:NM_012471:exon11:c.A2383T:p.K795X	exonic	TRPC5	NA	stopgain	TRPC5:ENST00000262839.2:exon11:c.A2383T:p.K795X
EGBC1	chrX	123395114	123395114	G	T	GRIA3	Missense_Mutation	NM_000828	exon6	c.G897T	p.K299N	SNP	all_mutianno	exonic	GRIA3	NA	nonsynonymous SNV	GRIA3:NM_000828:exon6:c.G897T:p.K299N,GRIA3:NM_007325:exon6:c.G897T:p.K299N	exonic	GRIA3	NA	nonsynonymous SNV	GRIA3:ENST00000541091.5:exon6:c.G897T:p.K299N,GRIA3:ENST00000620581.4:exon6:c.G897T:p.K299N,GRIA3:ENST00000622768.4:exon6:c.G897T:p.K299N
EGBC1	chrX	135971060	135971060	C	A	MMGT1	Missense_Mutation	NM_173470	exon2	c.G130T	p.D44Y	SNP	all_mutianno	exonic	MMGT1	NA	nonsynonymous SNV	MMGT1:NM_173470:exon2:c.G130T:p.D44Y,MMGT1:NM_001330000:exon3:c.G130T:p.D44Y	exonic	MMGT1	NA	nonsynonymous SNV	MMGT1:ENST00000305963.2:exon2:c.G130T:p.D44Y
EGBC1	chrX	141881710	141881710	C	A	MAGEC3	Missense_Mutation	NM_138702	exon4	c.C823A	p.L275I	SNP	all_mutianno	exonic	MAGEC3	NA	nonsynonymous SNV	MAGEC3:NM_138702:exon4:c.C823A:p.L275I	exonic	MAGEC3	NA	nonsynonymous SNV	MAGEC3:ENST00000298296.1:exon4:c.C823A:p.L275I
EGBC2	chr1	1523869	1523869	G	A	ATAD3A	Missense_Mutation	NM_001170535	exon10	c.G994A	p.A332T	SNP	all_mutianno	exonic	ATAD3A	NA	nonsynonymous SNV	ATAD3A:NM_001170535:exon10:c.G994A:p.A332T,ATAD3A:NM_001170536:exon10:c.G757A:p.A253T,ATAD3A:NM_018188:exon10:c.G1138A:p.A380T	exonic	ATAD3A	NA	nonsynonymous SNV	ATAD3A:ENST00000378755.9:exon10:c.G1138A:p.A380T,ATAD3A:ENST00000378756.7:exon10:c.G994A:p.A332T,ATAD3A:ENST00000536055.5:exon10:c.G757A:p.A253T
EGBC2	chr1	9041772	9041772	G	T	SLC2A5	Missense_Mutation	NM_001135585	exon5	c.C584A	p.T195K	SNP	all_mutianno	exonic	SLC2A5	NA	nonsynonymous SNV	SLC2A5:NM_001135585:exon5:c.C584A:p.T195K	exonic	SLC2A5	NA	nonsynonymous SNV	SLC2A5:ENST00000377414.7:exon5:c.C584A:p.T195K
EGBC2	chr1	36805034	36805034	C	T	GRIK3	Missense_Mutation	NM_000831	exon15	c.G2518A	p.V840M	SNP	all_mutianno	exonic	GRIK3	NA	nonsynonymous SNV	GRIK3:NM_000831:exon15:c.G2518A:p.V840M	exonic	GRIK3	NA	nonsynonymous SNV	GRIK3:ENST00000373093.4:exon15:c.G2518A:p.V840M
EGBC2	chr1	38875852	38875852	T	C	GJA9	Missense_Mutation	NM_030772	exon2	c.A247G	p.I83V	SNP	all_mutianno	exonic	GJA9	NA	nonsynonymous SNV	GJA9:NM_030772:exon2:c.A247G:p.I83V	exonic	GJA9	NA	nonsynonymous SNV	GJA9:ENST00000360786.3:exon1:c.A247G:p.I83V,GJA9:ENST00000357771.4:exon2:c.A247G:p.I83V
EGBC2	chr1	39444817	39444817	T	G	MACF1	Missense_Mutation	NM_012090	exon75	c.T13410G	p.S4470R	SNP	all_mutianno	exonic	MACF1	NA	nonsynonymous SNV	MACF1:NM_012090:exon75:c.T13410G:p.S4470R	exonic	MACF1	NA	nonsynonymous SNV	MACF1:ENST00000289893.8:exon45:c.T14916G:p.S4972R,MACF1:ENST00000361689.6:exon75:c.T13410G:p.S4470R,MACF1:ENST00000372915.7:exon79:c.T19284G:p.S6428R,MACF1:ENST00000564288.5:exon80:c.T19587G:p.S6529R,MACF1:ENST00000567887.5:exon80:c.T19698G:p.S6566R
EGBC2	chr1	40495655	40495655	A	G	ZFP69	Missense_Mutation	NM_001320178	exon6	c.A1180G	p.R394G	SNP	all_mutianno	exonic	ZFP69	NA	nonsynonymous SNV	ZFP69:NM_001320178:exon6:c.A1180G:p.R394G,ZFP69:NM_001320179:exon6:c.A1177G:p.R393G,ZFP69:NM_198494:exon6:c.A1177G:p.R393G	exonic	ZFP69	NA	nonsynonymous SNV	ZFP69:ENST00000372705.3:exon6:c.A1177G:p.R393G
EGBC2	chr1	45630557	45630557	C	T	GPBP1L1	Missense_Mutation	NM_021639	exon11	c.G1094A	p.C365Y	SNP	all_mutianno	exonic	GPBP1L1	NA	nonsynonymous SNV	GPBP1L1:NM_021639:exon11:c.G1094A:p.C365Y	exonic	GPBP1L1	NA	nonsynonymous SNV	GPBP1L1:ENST00000290795.7:exon10:c.G1094A:p.C365Y
EGBC2	chr1	45719239	45719239	C	T	IPP	Missense_Mutation	NM_001145349	exon6	c.G1150A	p.G384R	SNP	all_mutianno	exonic	IPP	NA	nonsynonymous SNV	IPP:NM_001145349:exon6:c.G1150A:p.G384R,IPP:NM_005897:exon6:c.G1150A:p.G384R	exonic	IPP	NA	nonsynonymous SNV	IPP:ENST00000396478.3:exon6:c.G1150A:p.G384R
EGBC2	chr1	46192359	46192359	C	G	POMGNT1	Missense_Mutation	NM_001290129	exon15	c.G1296C	p.R432S	SNP	all_mutianno	exonic	POMGNT1	NA	nonsynonymous SNV	POMGNT1:NM_001290129:exon15:c.G1296C:p.R432S,POMGNT1:NM_001290130:exon15:c.G933C:p.R311S,POMGNT1:NM_001243766:exon16:c.G1362C:p.R454S,POMGNT1:NM_017739:exon16:c.G1362C:p.R454S	exonic	POMGNT1	NA	nonsynonymous SNV	POMGNT1:ENST00000371992.1:exon16:c.G1362C:p.R454S
EGBC2	chr1	52268463	52268463	T	A	ZFYVE9	Missense_Mutation	NM_007324	exon6	c.T2279A	p.V760E	SNP	all_mutianno	exonic	ZFYVE9	NA	nonsynonymous SNV	ZFYVE9:NM_007324:exon6:c.T2279A:p.V760E,ZFYVE9:NM_004799:exon7:c.T2456A:p.V819E	exonic	ZFYVE9	NA	nonsynonymous SNV	ZFYVE9:ENST00000357206.6:exon6:c.T2279A:p.V760E,ZFYVE9:ENST00000371591.1:exon6:c.T2456A:p.V819E,ZFYVE9:ENST00000287727.7:exon7:c.T2456A:p.V819E
EGBC2	chr1	70429845	70429845	A	G	CTH	Missense_Mutation	NM_001190463	exon5	c.A544G	p.M182V	SNP	all_mutianno	exonic	CTH	NA	nonsynonymous SNV	CTH:NM_001190463:exon5:c.A544G:p.M182V,CTH:NM_153742:exon5:c.A508G:p.M170V,CTH:NM_001902:exon6:c.A640G:p.M214V	exonic	CTH	NA	nonsynonymous SNV	CTH:ENST00000346806.2:exon5:c.A508G:p.M170V,CTH:ENST00000411986.6:exon5:c.A544G:p.M182V,CTH:ENST00000370938.7:exon6:c.A640G:p.M214V
EGBC2	chr1	77063063	77063063	C	T	ST6GALNAC5	Missense_Mutation	NM_030965	exon5	c.C868T	p.R290C	SNP	all_mutianno	exonic	ST6GALNAC5	NA	nonsynonymous SNV	ST6GALNAC5:NM_030965:exon5:c.C868T:p.R290C	exonic	ST6GALNAC5	NA	unknown	UNKNOWN
EGBC2	chr1	78946385	78946385	T	A	ADGRL4	Missense_Mutation	NM_022159	exon3	c.A214T	p.N72Y	SNP	all_mutianno	exonic	ADGRL4	NA	nonsynonymous SNV	ADGRL4:NM_022159:exon3:c.A214T:p.N72Y	exonic	ADGRL4	NA	unknown	UNKNOWN
EGBC2	chr1	83921318	83921318	T	C	TTLL7	Missense_Mutation	NM_001350215	exon10	c.A1138G	p.K380E	SNP	all_mutianno	exonic	TTLL7	NA	nonsynonymous SNV	TTLL7:NM_001350215:exon10:c.A1138G:p.K380E,TTLL7:NM_024686:exon11:c.A1219G:p.K407E,TTLL7:NM_001350214:exon12:c.A1219G:p.K407E	exonic	TTLL7	NA	nonsynonymous SNV	TTLL7:ENST00000610996.1:exon11:c.A1219G:p.K407E
EGBC2	chr1	108139151	108139151	T	C	SLC25A24	Missense_Mutation	NM_013386	exon9	c.A1156G	p.M386V	SNP	all_mutianno	exonic	SLC25A24	NA	nonsynonymous SNV	SLC25A24:NM_013386:exon9:c.A1156G:p.M386V,SLC25A24:NM_213651:exon9:c.A1099G:p.M367V	exonic	SLC25A24	NA	nonsynonymous SNV	SLC25A24:ENST00000370041.4:exon9:c.A1099G:p.M367V
EGBC2	chr1	152109562	152109562	G	T	TCHH	Missense_Mutation	NM_007113	exon3	c.C3655A	p.Q1219K	SNP	all_mutianno	exonic	TCHH	NA	nonsynonymous SNV	TCHH:NM_007113:exon3:c.C3655A:p.Q1219K	exonic	TCHH	NA	nonsynonymous SNV	TCHH:ENST00000368804.5:exon2:c.C3655A:p.Q1219K,TCHH:ENST00000614923.1:exon3:c.C3655A:p.Q1219K
EGBC2	chr1	152309458	152309458	G	T	FLG	Missense_Mutation	NM_002016	exon3	c.C5428A	p.Q1810K	SNP	all_mutianno	exonic	FLG	NA	nonsynonymous SNV	FLG:NM_002016:exon3:c.C5428A:p.Q1810K	exonic	FLG	NA	nonsynonymous SNV	FLG:ENST00000368799.1:exon3:c.C5428A:p.Q1810K
EGBC2	chr1	158480248	158480248	T	A	OR10R2	Missense_Mutation	NM_001004472	exon1	c.T371A	p.F124Y	SNP	all_mutianno	exonic	OR10R2	NA	nonsynonymous SNV	OR10R2:NM_001004472:exon1:c.T371A:p.F124Y	exonic	OR10R2	NA	nonsynonymous SNV	OR10R2:ENST00000368152.1:exon1:c.T371A:p.F124Y
EGBC2	chr1	158766118	158766118	A	G	OR6N1	Missense_Mutation	NM_001005185	exon1	c.T565C	p.C189R	SNP	all_mutianno	exonic	OR6N1	NA	nonsynonymous SNV	OR6N1:NM_001005185:exon1:c.T565C:p.C189R	exonic	OR6N1	NA	unknown	UNKNOWN
EGBC2	chr1	163069350	163069350	G	T	RGS4	Missense_Mutation	NM_001102445	exon2	c.G157T	p.G53C	SNP	all_mutianno	exonic	RGS4	NA	nonsynonymous SNV	RGS4:NM_001102445:exon2:c.G157T:p.G53C	exonic	RGS4	NA	nonsynonymous SNV	RGS4:ENST00000421743.6:exon2:c.G157T:p.G53C
EGBC2	chr1	182399969	182399969	G	A	TEDDM1	Nonsense_Mutation	NM_172000	exon1	c.C517T	p.Q173X	SNP	all_mutianno	exonic	TEDDM1	NA	stopgain	TEDDM1:NM_172000:exon1:c.C517T:p.Q173X	exonic	TEDDM1	NA	stopgain	TEDDM1:ENST00000367565.1:exon1:c.C517T:p.Q173X
EGBC2	chr1	192352082	192352082	G	C	RGS21	Missense_Mutation	NM_001039152	exon4	c.G124C	p.E42Q	SNP	all_mutianno	exonic	RGS21	NA	nonsynonymous SNV	RGS21:NM_001039152:exon4:c.G124C:p.E42Q	exonic	RGS21	NA	nonsynonymous SNV	RGS21:ENST00000417209.2:exon4:c.G124C:p.E42Q
EGBC2	chr1	197142990	197142990	T	A	ASPM	Missense_Mutation	NM_001206846	exon3	c.A1262T	p.Q421L	SNP	all_mutianno	exonic	ASPM	NA	nonsynonymous SNV	ASPM:NM_001206846:exon3:c.A1262T:p.Q421L,ASPM:NM_018136:exon3:c.A1262T:p.Q421L	exonic	ASPM	NA	nonsynonymous SNV	ASPM:ENST00000294732.11:exon3:c.A1262T:p.Q421L
EGBC2	chr1	200618114	200618115	TG	T	KIF14	Frame_Shift_Del	NM_014875	exon2	c.609delC	p.S204Vfs*21	DEL	all_mutianno	exonic	KIF14	NA	frameshift deletion	KIF14:NM_014875:exon2:c.609delC:p.S204Vfs*21	exonic	KIF14	NA	frameshift deletion	KIF14:ENST00000614960.4:exon1:c.609delC:p.S204Vfs*21
EGBC2	chr1	200873804	200873804	C	T	GPR25	Missense_Mutation	NM_005298	exon1	c.C767T	p.S256F	SNP	all_mutianno	exonic	GPR25	NA	nonsynonymous SNV	GPR25:NM_005298:exon1:c.C767T:p.S256F	exonic	GPR25	NA	nonsynonymous SNV	GPR25:ENST00000304244.4:exon1:c.C767T:p.S256F
EGBC2	chr1	203169067	203169067	T	C	MYBPH	Missense_Mutation	NM_004997	exon9	c.A1256G	p.K419R	SNP	all_mutianno	exonic	MYBPH	NA	nonsynonymous SNV	MYBPH:NM_004997:exon9:c.A1256G:p.K419R	exonic	MYBPH	NA	nonsynonymous SNV	MYBPH:ENST00000621380.1:exon11:c.A1253G:p.K418R
EGBC2	chr1	207899973	207899973	C	T	CD34	Missense_Mutation	NM_001025109	exon2	c.G110A	p.G37D	SNP	all_mutianno	exonic	CD34	NA	nonsynonymous SNV	CD34:NM_001025109:exon2:c.G110A:p.G37D,CD34:NM_001773:exon2:c.G110A:p.G37D	exonic	CD34	NA	nonsynonymous SNV	CD34:ENST00000310833.11:exon2:c.G110A:p.G37D,CD34:ENST00000356522.4:exon2:c.G110A:p.G37D
EGBC2	chr1	228397027	228397027	T	A	TRIM11	Missense_Mutation	NM_145214	exon5	c.A779T	p.Q260L	SNP	all_mutianno	exonic	TRIM11	NA	nonsynonymous SNV	TRIM11:NM_145214:exon5:c.A779T:p.Q260L	exonic	TRIM11	NA	nonsynonymous SNV	TRIM11:ENST00000493030.6:exon4:c.A404T:p.Q135L,TRIM11:ENST00000366699.3:exon5:c.A779T:p.Q260L
EGBC2	chr1	236029589	236029589	T	G	NID1	Missense_Mutation	NM_002508	exon7	c.A1699C	p.I567L	SNP	all_mutianno	exonic	NID1	NA	nonsynonymous SNV	NID1:NM_002508:exon7:c.A1699C:p.I567L	exonic	NID1	NA	nonsynonymous SNV	NID1:ENST00000366595.7:exon7:c.A1699C:p.I567L
EGBC2	chr1	239908475	239908475	G	A	CHRM3	Missense_Mutation	NM_000740	exon5	c.G1024A	p.A342T	SNP	all_mutianno	exonic	CHRM3	NA	nonsynonymous SNV	CHRM3:NM_000740:exon5:c.G1024A:p.A342T,CHRM3:NM_001375980:exon5:c.G1024A:p.A342T,CHRM3:NM_001375979:exon6:c.G1024A:p.A342T,CHRM3:NM_001375981:exon6:c.G1024A:p.A342T,CHRM3:NM_001375985:exon6:c.G1024A:p.A342T,CHRM3:NM_001375978:exon7:c.G1024A:p.A342T,CHRM3:NM_001375982:exon7:c.G1024A:p.A342T,CHRM3:NM_001375983:exon7:c.G1024A:p.A342T,CHRM3:NM_001375984:exon7:c.G1024A:p.A342T,CHRM3:NM_001347716:exon8:c.G1024A:p.A342T	exonic	CHRM3	NA	nonsynonymous SNV	CHRM3:ENST00000615928.4:exon4:c.G1024A:p.A342T,CHRM3:ENST00000255380.8:exon5:c.G1024A:p.A342T
EGBC2	chr1	247328737	247328737	C	A	ZNF496	Missense_Mutation	NM_001329733	exon5	c.G520T	p.A174S	SNP	all_mutianno	exonic	ZNF496	NA	nonsynonymous SNV	ZNF496:NM_001329733:exon5:c.G520T:p.A174S,ZNF496:NM_032752:exon5:c.G520T:p.A174S	exonic	ZNF496	NA	nonsynonymous SNV	ZNF496:ENST00000294753.8:exon4:c.G520T:p.A174S
EGBC2	chr1	247860681	247860681	C	A	TRIM58	Missense_Mutation	NM_015431	exon2	c.C485A	p.A162D	SNP	all_mutianno	exonic	TRIM58	NA	nonsynonymous SNV	TRIM58:NM_015431:exon2:c.C485A:p.A162D	exonic	TRIM58	NA	unknown	UNKNOWN
EGBC2	chr1	248180092	248180092	T	A	OR2M2	Nonsense_Mutation	NM_001004688	exon1	c.T107A	p.L36X	SNP	all_mutianno	exonic	OR2M2	NA	stopgain	OR2M2:NM_001004688:exon1:c.T107A:p.L36X	exonic	OR2M2	NA	stopgain	OR2M2:ENST00000359682.2:exon1:c.T107A:p.L36X
EGBC2	chr1	248626624	248626624	G	A	OR2T11	Nonsense_Mutation	NM_001001964	exon1	c.C505T	p.R169X	SNP	all_mutianno	exonic	OR2T11	NA	stopgain	OR2T11:NM_001001964:exon1:c.C505T:p.R169X	exonic	OR2T11	NA	stopgain	OR2T11:ENST00000625105.2:exon1:c.C505T:p.R169X
EGBC2	chr1	248639154	248639154	G	C	OR2T35	Missense_Mutation	NM_001001827	exon1	c.C105G	p.I35M	SNP	all_mutianno	exonic	OR2T35	NA	nonsynonymous SNV	OR2T35:NM_001001827:exon1:c.C105G:p.I35M	exonic	OR2T35	NA	nonsynonymous SNV	OR2T35:ENST00000317450.3:exon1:c.C105G:p.I35M
EGBC2	chr2	1943126	1943126	C	T	MYT1L	Missense_Mutation	NM_001303052	exon9	c.G361A	p.D121N	SNP	all_mutianno	exonic	MYT1L	NA	nonsynonymous SNV	MYT1L:NM_001303052:exon9:c.G361A:p.D121N,MYT1L:NM_001329845:exon9:c.G361A:p.D121N,MYT1L:NM_001329846:exon9:c.G361A:p.D121N,MYT1L:NM_001329847:exon9:c.G361A:p.D121N,MYT1L:NM_001329848:exon9:c.G361A:p.D121N,MYT1L:NM_001329849:exon9:c.G361A:p.D121N,MYT1L:NM_001329851:exon9:c.G361A:p.D121N,MYT1L:NM_001329852:exon9:c.G361A:p.D121N,MYT1L:NM_015025:exon9:c.G361A:p.D121N,MYT1L:NM_001329844:exon10:c.G361A:p.D121N	exonic	MYT1L	NA	unknown	UNKNOWN
EGBC2	chr2	20255249	20255289	TTCTAAGATAGGTAAGGTCTGTTCTGCAGTGCAATGCTCTA	T	PUM2	Frame_Shift_Del	NM_001282790	exon16	c.2438_2477del	p.L813Qfs*44	DEL	all_mutianno	exonic	PUM2	NA	frameshift deletion	PUM2:NM_001282790:exon16:c.2438_2477del:p.L813Qfs*44,PUM2:NM_001282752:exon17:c.2507_2546del:p.L836Qfs*44,PUM2:NM_001282791:exon17:c.2270_2309del:p.L757Qfs*44,PUM2:NM_001352920:exon17:c.2444_2483del:p.L815Qfs*44,PUM2:NM_001352923:exon17:c.2444_2483del:p.L815Qfs*44,PUM2:NM_001352925:exon17:c.2438_2477del:p.L813Qfs*44,PUM2:NM_001352926:exon17:c.2438_2477del:p.L813Qfs*44,PUM2:NM_001352927:exon17:c.2438_2477del:p.L813Qfs*44,PUM2:NM_001352928:exon17:c.2438_2477del:p.L813Qfs*44,PUM2:NM_001352930:exon17:c.1997_2036del:p.L666Qfs*44,PUM2:NM_001352917:exon18:c.2681_2720del:p.L894Qfs*44,PUM2:NM_001352918:exon18:c.2675_2714del:p.L892Qfs*44,PUM2:NM_001352919:exon18:c.2675_2714del:p.L892Qfs*44,PUM2:NM_001352929:exon18:c.2270_2309del:p.L757Qfs*44,PUM2:NM_015317:exon18:c.2675_2714del:p.L892Qfs*44	exonic	PUM2	NA	frameshift deletion	PUM2:ENST00000319801.9:exon17:c.2270_2309del:p.L757Qfs*44,PUM2:ENST00000338086.9:exon17:c.2675_2714del:p.L892Qfs*44,PUM2:ENST00000361078.6:exon17:c.2507_2546del:p.L836Qfs*44,PUM2:ENST00000403432.5:exon18:c.2675_2714del:p.L892Qfs*44
EGBC2	chr2	24707008	24707008	C	T	NCOA1	Missense_Mutation	NM_147233	exon11	c.C1538T	p.S513L	SNP	all_mutianno	exonic	NCOA1	NA	nonsynonymous SNV	NCOA1:NM_147233:exon11:c.C1538T:p.S513L,NCOA1:NM_147223:exon12:c.C1538T:p.S513L,NCOA1:NM_001362950:exon13:c.C1538T:p.S513L,NCOA1:NM_001362952:exon13:c.C1538T:p.S513L,NCOA1:NM_001362954:exon13:c.C1538T:p.S513L,NCOA1:NM_001362955:exon13:c.C1538T:p.S513L,NCOA1:NM_003743:exon13:c.C1538T:p.S513L	exonic	NCOA1	NA	nonsynonymous SNV	NCOA1:ENST00000288599.9:exon11:c.C1538T:p.S513L,NCOA1:ENST00000348332.7:exon11:c.C1538T:p.S513L,NCOA1:ENST00000395856.3:exon11:c.C1538T:p.S513L,NCOA1:ENST00000407230.5:exon11:c.C1085T:p.S362L,NCOA1:ENST00000406961.5:exon13:c.C1538T:p.S513L,NCOA1:ENST00000405141.5:exon14:c.C1538T:p.S513L
EGBC2	chr2	27298580	27298580	T	C	TRIM54	Missense_Mutation	NM_032546	exon2	c.T182C	p.L61P	SNP	all_mutianno	exonic	TRIM54	NA	nonsynonymous SNV	TRIM54:NM_032546:exon2:c.T182C:p.L61P,TRIM54:NM_187841:exon2:c.T182C:p.L61P	exonic	TRIM54	NA	nonsynonymous SNV	TRIM54:ENST00000296098.4:exon2:c.T182C:p.L61P,TRIM54:ENST00000380075.6:exon2:c.T182C:p.L61P
EGBC2	chr2	27499187	27499187	C	A	GCKR	Missense_Mutation	NM_001486	exon6	c.C474A	p.H158Q	SNP	all_mutianno	exonic	GCKR	NA	nonsynonymous SNV	GCKR:NM_001486:exon6:c.C474A:p.H158Q	exonic	GCKR	NA	unknown	UNKNOWN
EGBC2	chr2	27607866	27607866	G	A	ZNF512	Missense_Mutation	NM_001271286	exon9	c.G871A	p.G291R	SNP	all_mutianno	exonic	ZNF512	NA	nonsynonymous SNV	ZNF512:NM_001271286:exon9:c.G871A:p.G291R,ZNF512:NM_001271287:exon9:c.G727A:p.G243R,ZNF512:NM_001271288:exon9:c.G727A:p.G243R,ZNF512:NM_001271289:exon9:c.G643A:p.G215R,ZNF512:NM_032434:exon10:c.G958A:p.G320R,ZNF512:NM_001271318:exon11:c.G727A:p.G243R	exonic	ZNF512	NA	nonsynonymous SNV	ZNF512:ENST00000416005.6:exon9:c.G871A:p.G291R,ZNF512:ENST00000556601.5:exon9:c.G727A:p.G243R,ZNF512:ENST00000379717.5:exon10:c.G955A:p.G319R,ZNF512:ENST00000413371.6:exon11:c.G727A:p.G243R
EGBC2	chr2	63054100	63054100	G	T	OTX1	Missense_Mutation	NM_001199770	exon4	c.G151T	p.D51Y	SNP	all_mutianno	exonic	OTX1	NA	nonsynonymous SNV	OTX1:NM_001199770:exon4:c.G151T:p.D51Y,OTX1:NM_014562:exon4:c.G151T:p.D51Y	exonic	OTX1	NA	nonsynonymous SNV	OTX1:ENST00000366671.7:exon4:c.G151T:p.D51Y
EGBC2	chr2	73385959	73385959	G	T	ALMS1	Missense_Mutation	NM_001378454	exon1	c.G91T	p.A31S	SNP	all_mutianno	exonic	ALMS1	NA	nonsynonymous SNV	ALMS1:NM_001378454:exon1:c.G91T:p.A31S,ALMS1:NM_015120:exon1:c.G91T:p.A31S	exonic	ALMS1	NA	nonsynonymous SNV	ALMS1:ENST00000484298.5:exon1:c.G91T:p.A31S,ALMS1:ENST00000614410.4:exon1:c.G91T:p.A31S
EGBC2	chr2	73641548	73641548	C	A	NAT8	Missense_Mutation	NM_003960	exon2	c.G81T	p.E27D	SNP	all_mutianno	exonic	NAT8	NA	nonsynonymous SNV	NAT8:NM_003960:exon2:c.G81T:p.E27D	exonic	NAT8	NA	nonsynonymous SNV	NAT8:ENST00000272425.3:exon2:c.G81T:p.E27D
EGBC2	chr2	79869868	79869868	C	A	CTNNA2	Missense_Mutation	NM_001164883	exon5	c.C518A	p.A173E	SNP	all_mutianno	exonic	CTNNA2	NA	nonsynonymous SNV	CTNNA2:NM_001164883:exon5:c.C518A:p.A173E,CTNNA2:NM_001282597:exon5:c.C518A:p.A173E,CTNNA2:NM_001282598:exon5:c.C620A:p.A207E,CTNNA2:NM_004389:exon5:c.C518A:p.A173E	exonic	CTNNA2	NA	nonsynonymous SNV	CTNNA2:ENST00000402739.8:exon4:c.C518A:p.A173E,CTNNA2:ENST00000496558.5:exon5:c.C518A:p.A173E,CTNNA2:ENST00000629316.2:exon5:c.C518A:p.A173E,CTNNA2:ENST00000466387.5:exon9:c.C518A:p.A173E
EGBC2	chr2	95121767	95121767	C	A	MRPS5	Missense_Mutation	NM_031902	exon1	c.G25T	p.G9C	SNP	all_mutianno	exonic	MRPS5	NA	nonsynonymous SNV	MRPS5:NM_031902:exon1:c.G25T:p.G9C	exonic	MRPS5	NA	unknown	UNKNOWN
EGBC2	chr2	120349328	120349328	G	T	INHBB	Missense_Mutation	NM_002193	exon2	c.G678T	p.W226C	SNP	all_mutianno	exonic	INHBB	NA	nonsynonymous SNV	INHBB:NM_002193:exon2:c.G678T:p.W226C	exonic	INHBB	NA	unknown	UNKNOWN
EGBC2	chr2	132784641	132784641	C	T	NCKAP5	Missense_Mutation	NM_207363	exon14	c.G2170A	p.A724T	SNP	all_mutianno	exonic	NCKAP5	NA	nonsynonymous SNV	NCKAP5:NM_207363:exon14:c.G2170A:p.A724T	exonic	NCKAP5	NA	nonsynonymous SNV	NCKAP5:ENST00000317721.10:exon15:c.G2170A:p.A724T
EGBC2	chr2	140903054	140903054	G	A	LRP1B	Missense_Mutation	NM_018557	exon23	c.C3632T	p.T1211I	SNP	all_mutianno	exonic	LRP1B	NA	nonsynonymous SNV	LRP1B:NM_018557:exon23:c.C3632T:p.T1211I	exonic	LRP1B	NA	nonsynonymous SNV	LRP1B:ENST00000389484.7:exon23:c.C3632T:p.T1211I
EGBC2	chr2	169646106	169646106	G	T	CCDC173	Missense_Mutation	NM_001085447	exon9	c.C1394A	p.A465D	SNP	all_mutianno	exonic	CCDC173	NA	nonsynonymous SNV	CCDC173:NM_001085447:exon9:c.C1394A:p.A465D	exonic	CCDC173	NA	unknown	UNKNOWN
EGBC2	chr2	178718531	178718531	G	A	TTN	Missense_Mutation	NM_133378	exon82	c.C20843T	p.A6948V	SNP	all_mutianno	exonic	TTN	NA	nonsynonymous SNV	TTN:NM_133378:exon82:c.C20843T:p.A6948V,TTN:NM_001256850:exon83:c.C23624T:p.A7875V,TTN:NM_001267550:exon85:c.C24575T:p.A8192V	exonic	TTN	NA	nonsynonymous SNV	TTN:ENST00000342992.10:exon82:c.C20843T:p.A6948V,TTN:ENST00000615779.5:exon82:c.C23624T:p.A7875V,TTN:ENST00000591111.5:exon83:c.C23624T:p.A7875V,TTN:ENST00000589042.5:exon85:c.C24575T:p.A8192V
EGBC2	chr2	178740311	178740311	C	A	TTN	Missense_Mutation	NM_003319	exon45	c.G11833T	p.A3945S	SNP	all_mutianno	exonic	TTN	NA	nonsynonymous SNV	TTN:NM_003319:exon45:c.G11833T:p.A3945S,TTN:NM_001256850:exon46:c.G11971T:p.A3991S,TTN:NM_133432:exon46:c.G12208T:p.A4070S,TTN:NM_133437:exon46:c.G12409T:p.A4137S,TTN:NM_001267550:exon48:c.G12922T:p.A4308S	exonic	TTN	NA	nonsynonymous SNV	TTN:ENST00000342175.11:exon45:c.G12409T:p.A4137S,TTN:ENST00000359218.10:exon45:c.G12208T:p.A4070S,TTN:ENST00000460472.6:exon45:c.G11833T:p.A3945S,TTN:ENST00000615779.5:exon45:c.G11971T:p.A3991S,TTN:ENST00000591111.5:exon46:c.G11971T:p.A3991S,TTN:ENST00000589042.5:exon48:c.G12922T:p.A4308S
EGBC2	chr2	184936295	184936295	C	G	ZNF804A	Missense_Mutation	NM_194250	exon4	c.C899G	p.S300C	SNP	all_mutianno	exonic	ZNF804A	NA	nonsynonymous SNV	ZNF804A:NM_194250:exon4:c.C899G:p.S300C	exonic	ZNF804A	NA	nonsynonymous SNV	ZNF804A:ENST00000613975.1:exon3:c.C644G:p.S215C
EGBC2	chr2	214781168	214781168	T	A	BARD1	Nonsense_Mutation	NM_001282543	exon3	c.A649T	p.K217X	SNP	all_mutianno	exonic	BARD1	NA	stopgain	BARD1:NM_001282543:exon3:c.A649T:p.K217X,BARD1:NM_000465:exon4:c.A706T:p.K236X	exonic	BARD1	NA	unknown	UNKNOWN
EGBC2	chr2	236486831	236486831	T	A	IQCA1	Missense_Mutation	NM_001270584	exon5	c.A718T	p.M240L	SNP	all_mutianno	exonic	IQCA1	NA	nonsynonymous SNV	IQCA1:NM_001270584:exon5:c.A718T:p.M240L,IQCA1:NM_001270585:exon5:c.A739T:p.M247L,IQCA1:NM_024726:exon5:c.A718T:p.M240L	exonic	IQCA1	NA	nonsynonymous SNV	IQCA1:ENST00000309507.9:exon5:c.A718T:p.M240L,IQCA1:ENST00000431676.6:exon5:c.A739T:p.M247L
EGBC2	chr3	3056174	3056174	C	A	CNTN4	Missense_Mutation	NM_001206956	exon16	c.C2048A	p.A683D	SNP	all_mutianno	exonic	CNTN4	NA	nonsynonymous SNV	CNTN4:NM_001206956:exon16:c.C2048A:p.A683D,CNTN4:NM_175613:exon16:c.C2051A:p.A684D,CNTN4:NM_001206955:exon24:c.C3035A:p.A1012D,CNTN4:NM_001350095:exon25:c.C3035A:p.A1012D,CNTN4:NM_175607:exon25:c.C3035A:p.A1012D	exonic	CNTN4	NA	nonsynonymous SNV	CNTN4:ENST00000397459.6:exon16:c.C2051A:p.A684D,CNTN4:ENST00000427331.5:exon22:c.C3035A:p.A1012D,CNTN4:ENST00000397461.5:exon24:c.C3035A:p.A1012D
EGBC2	chr3	15034751	15034751	G	C	NR2C2	Missense_Mutation	NM_001291694	exon11	c.G1314C	p.M438I	SNP	all_mutianno	exonic	NR2C2	NA	nonsynonymous SNV	NR2C2:NM_001291694:exon11:c.G1314C:p.M438I,NR2C2:NM_003298:exon12:c.G1371C:p.M457I	exonic	NR2C2	NA	nonsynonymous SNV	NR2C2:ENST00000406272.6:exon10:c.G1314C:p.M438I,NR2C2:ENST00000393102.7:exon11:c.G1314C:p.M438I,NR2C2:ENST00000425241.5:exon11:c.G1314C:p.M438I,NR2C2:ENST00000617312.4:exon11:c.G1371C:p.M457I,NR2C2:ENST00000323373.10:exon12:c.G1371C:p.M457I
EGBC2	chr3	19513039	19513039	G	T	KCNH8	Nonsense_Mutation	NM_144633	exon13	c.G2149T	p.E717X	SNP	all_mutianno	exonic	KCNH8	NA	stopgain	KCNH8:NM_144633:exon13:c.G2149T:p.E717X	exonic	KCNH8	NA	unknown	UNKNOWN
EGBC2	chr3	35717337	35717337	T	C	ARPP21	Missense_Mutation	NM_001385517	exon11	c.T764C	p.I255T	SNP	all_mutianno	exonic	ARPP21	NA	nonsynonymous SNV	ARPP21:NM_001385517:exon11:c.T764C:p.I255T	exonic	ARPP21	NA	synonymous SNV	ARPP21:ENST00000417925.5:exon11:c.T873C:p.Y291Y,ARPP21:ENST00000187397.8:exon13:c.T975C:p.Y325Y
EGBC2	chr3	44244845	44244845	G	T	TOPAZ1	Missense_Mutation	NM_001145030	exon2	c.G2339T	p.S780I	SNP	all_mutianno	exonic	TOPAZ1	NA	nonsynonymous SNV	TOPAZ1:NM_001145030:exon2:c.G2339T:p.S780I	exonic	TOPAZ1	NA	nonsynonymous SNV	TOPAZ1:ENST00000309765.4:exon2:c.G2339T:p.S780I
EGBC2	chr3	88466724	88466724	G	A	CSNKA2IP	Missense_Mutation	NM_001368165	exon2	c.G1367A	p.R456K	SNP	all_mutianno	exonic	CSNKA2IP	NA	nonsynonymous SNV	CSNKA2IP:NM_001368165:exon2:c.G1367A:p.R456K,CSNKA2IP:NM_001368166:exon3:c.G1367A:p.R456K,CSNKA2IP:NM_001368167:exon3:c.G1367A:p.R456K,CSNKA2IP:NM_001368168:exon3:c.G1367A:p.R456K	exonic	RP11-249L12.1	NA	nonsynonymous SNV	RP11-249L12.1:ENST00000637986.1:exon2:c.G1367A:p.R456K
EGBC2	chr3	113627661	113627661	G	C	SIDT1	Missense_Mutation	NM_001322296	exon24	c.G2266C	p.D756H	SNP	all_mutianno	exonic	SIDT1	NA	nonsynonymous SNV	SIDT1:NM_001322296:exon24:c.G2266C:p.D756H,SIDT1:NM_001322295:exon25:c.G2368C:p.D790H,SIDT1:NM_001322297:exon25:c.G1999C:p.D667H,SIDT1:NM_001322298:exon25:c.G1909C:p.D637H,SIDT1:NM_001322299:exon25:c.G1696C:p.D566H,SIDT1:NM_001322300:exon25:c.G1171C:p.D391H,SIDT1:NM_017699:exon25:c.G2437C:p.D813H,SIDT1:NM_001308350:exon26:c.G2452C:p.D818H,SIDT1:NM_001322294:exon26:c.G2455C:p.D819H	exonic	SIDT1	NA	nonsynonymous SNV	SIDT1:ENST00000264852.8:exon25:c.G2437C:p.D813H,SIDT1:ENST00000393830.4:exon26:c.G2452C:p.D818H
EGBC2	chr3	121490139	121490139	T	A	POLQ	Missense_Mutation	NM_199420	exon16	c.A2792T	p.Y931F	SNP	all_mutianno	exonic	POLQ	NA	nonsynonymous SNV	POLQ:NM_199420:exon16:c.A2792T:p.Y931F	exonic	POLQ	NA	nonsynonymous SNV	POLQ:ENST00000621776.4:exon17:c.A3197T:p.Y1066F
EGBC2	chr3	142426797	142426797	T	C	XRN1	Missense_Mutation	NM_001282857	exon3	c.A353G	p.K118R	SNP	all_mutianno	exonic	XRN1	NA	nonsynonymous SNV	XRN1:NM_001282857:exon3:c.A353G:p.K118R,XRN1:NM_001282859:exon3:c.A353G:p.K118R,XRN1:NM_019001:exon3:c.A353G:p.K118R	exonic	XRN1	NA	nonsynonymous SNV	XRN1:ENST00000264951.8:exon3:c.A353G:p.K118R,XRN1:ENST00000392981.6:exon3:c.A353G:p.K118R,XRN1:ENST00000463916.5:exon3:c.A353G:p.K118R
EGBC2	chr3	158666714	158666714	A	G	LXN	Missense_Mutation	NM_020169	exon6	c.T601C	p.W201R	SNP	all_mutianno	exonic	LXN	NA	nonsynonymous SNV	LXN:NM_020169:exon6:c.T601C:p.W201R	exonic	LXN	NA	unknown	UNKNOWN
EGBC2	chr3	167317105	167317105	C	T	ZBBX	Missense_Mutation	NM_001199201	exon14	c.G1094A	p.G365D	SNP	all_mutianno	exonic	ZBBX	NA	nonsynonymous SNV	ZBBX:NM_001199201:exon14:c.G1094A:p.G365D,ZBBX:NM_001199202:exon14:c.G1007A:p.G336D,ZBBX:NM_024687:exon14:c.G1094A:p.G365D,ZBBX:NM_001377489:exon15:c.G1094A:p.G365D	exonic	ZBBX	NA	nonsynonymous SNV	ZBBX:ENST00000307529.9:exon11:c.G1094A:p.G365D,ZBBX:ENST00000392767.6:exon12:c.G1007A:p.G336D,ZBBX:ENST00000455345.6:exon13:c.G1094A:p.G365D,ZBBX:ENST00000392764.5:exon14:c.G1007A:p.G336D,ZBBX:ENST00000392766.6:exon14:c.G1094A:p.G365D
EGBC2	chr3	175447349	175447349	G	T	NAALADL2	Missense_Mutation	NM_207015	exon6	c.G1211T	p.S404I	SNP	all_mutianno	exonic	NAALADL2	NA	nonsynonymous SNV	NAALADL2:NM_207015:exon6:c.G1211T:p.S404I	exonic	NAALADL2	NA	unknown	UNKNOWN
EGBC2	chr3	186164943	186164943	T	G	DGKG	Missense_Mutation	NM_001080744	exon22	c.A2096C	p.K699T	SNP	all_mutianno	exonic	DGKG	NA	nonsynonymous SNV	DGKG:NM_001080744:exon22:c.A2096C:p.K699T,DGKG:NM_001080745:exon22:c.A2054C:p.K685T,DGKG:NM_001346:exon23:c.A2171C:p.K724T	exonic	DGKG	NA	nonsynonymous SNV	DGKG:ENST00000344484.8:exon22:c.A2096C:p.K699T,DGKG:ENST00000382164.8:exon22:c.A2054C:p.K685T
EGBC2	chr4	146256888	146256888	C	T	SLC10A7	Missense_Mutation	NM_001300842	exon12	c.G1042A	p.G348S	SNP	all_mutianno	exonic	SLC10A7	NA	nonsynonymous SNV	SLC10A7:NM_001300842:exon12:c.G1042A:p.G348S	exonic	SLC10A7	NA	nonsynonymous SNV	SLC10A7:ENST00000507030.5:exon12:c.G1042A:p.G348S
EGBC2	chr4	166055150	166055150	A	G	TLL1	Missense_Mutation	NM_012464	exon13	c.A1599G	p.I533M	SNP	all_mutianno	exonic	TLL1	NA	nonsynonymous SNV	TLL1:NM_012464:exon13:c.A1599G:p.I533M	exonic	TLL1	NA	nonsynonymous SNV	TLL1:ENST00000507499.5:exon14:c.A1668G:p.I556M
EGBC2	chr4	175634972	175634972	T	C	GPM6A	Missense_Mutation	NM_001261447	exon5	c.A665G	p.K222R	SNP	all_mutianno	exonic	GPM6A	NA	nonsynonymous SNV	GPM6A:NM_001261447:exon5:c.A665G:p.K222R,GPM6A:NM_001261448:exon7:c.A749G:p.K250R,GPM6A:NM_201591:exon7:c.A770G:p.K257R,GPM6A:NM_201592:exon7:c.A737G:p.K246R,GPM6A:NM_005277:exon8:c.A770G:p.K257R	exonic	GPM6A	NA	nonsynonymous SNV	GPM6A:ENST00000393658.6:exon7:c.A770G:p.K257R,GPM6A:ENST00000506894.5:exon7:c.A737G:p.K246R,GPM6A:ENST00000515090.5:exon7:c.A749G:p.K250R,GPM6A:ENST00000280187.11:exon8:c.A770G:p.K257R
EGBC2	chr4	186636746	186636747	GC	G	FAT1	Frame_Shift_Del	NM_005245	exon5	c.3810delG	p.L1271Sfs*5	DEL	all_mutianno	exonic	FAT1	NA	frameshift deletion	FAT1:NM_005245:exon5:c.3810delG:p.L1271Sfs*5	exonic	FAT1	NA	frameshift deletion	FAT1:ENST00000614102.4:exon5:c.3810delG:p.L1271Sfs*5
EGBC2	chr5	454047	454047	A	T	EXOC3	Missense_Mutation	NM_007277	exon4	c.A1042T	p.T348S	SNP	all_mutianno	exonic	EXOC3	NA	nonsynonymous SNV	EXOC3:NM_007277:exon4:c.A1042T:p.T348S	exonic	EXOC3	NA	nonsynonymous SNV	EXOC3:ENST00000315013.9:exon3:c.A1042T:p.T348S
EGBC2	chr5	11903839	11903839	C	A	CTNND2	Missense_Mutation	NM_001332	exon1	c.G15T	p.K5N	SNP	all_mutianno	exonic	CTNND2	NA	nonsynonymous SNV	CTNND2:NM_001332:exon1:c.G15T:p.K5N	exonic	CTNND2	NA	unknown	UNKNOWN
EGBC2	chr5	19473501	19473502	TG	T	CDH18	Frame_Shift_Del	NM_001349559	exon13	c.2097delC	p.R700Dfs*11	DEL	all_mutianno	exonic	CDH18	NA	frameshift deletion	CDH18:NM_001349559:exon13:c.2097delC:p.R700Dfs*11,CDH18:NM_004934:exon13:c.2097delC:p.R700Dfs*11,CDH18:NM_001349556:exon14:c.2097delC:p.R700Dfs*11,CDH18:NM_001349562:exon14:c.1428delC:p.R477Dfs*11,CDH18:NM_001349563:exon14:c.1428delC:p.R477Dfs*11,CDH18:NM_001291956:exon15:c.2097delC:p.R700Dfs*11,CDH18:NM_001349558:exon16:c.2097delC:p.R700Dfs*11	exonic	CDH18	NA	frameshift deletion	CDH18:ENST00000274170.8:exon11:c.2097delC:p.R700Dfs*11,CDH18:ENST00000507958.5:exon15:c.2097delC:p.R700Dfs*11
EGBC2	chr5	33963946	33963946	C	A	SLC45A2	Missense_Mutation	NM_001012509	exon3	c.G633T	p.L211F	SNP	all_mutianno	exonic	SLC45A2	NA	nonsynonymous SNV	SLC45A2:NM_001012509:exon3:c.G633T:p.L211F,SLC45A2:NM_016180:exon3:c.G633T:p.L211F	exonic	SLC45A2	NA	nonsynonymous SNV	SLC45A2:ENST00000382102.7:exon3:c.G633T:p.L211F
EGBC2	chr5	41033133	41033133	T	C	MROH2B	Missense_Mutation	NM_173489	exon23	c.A2269G	p.R757G	SNP	all_mutianno	exonic	MROH2B	NA	nonsynonymous SNV	MROH2B:NM_173489:exon23:c.A2269G:p.R757G	exonic	MROH2B	NA	nonsynonymous SNV	MROH2B:ENST00000506092.6:exon13:c.A934G:p.R312G
EGBC2	chr5	41803092	41803092	T	C	OXCT1	Missense_Mutation	NM_001364303	exon6	c.A469G	p.S157G	SNP	all_mutianno	exonic	OXCT1	NA	nonsynonymous SNV	OXCT1:NM_001364303:exon6:c.A469G:p.S157G,OXCT1:NM_000436:exon10:c.A1027G:p.S343G,OXCT1:NM_001364300:exon10:c.A1048G:p.S350G,OXCT1:NM_001364301:exon10:c.A1021G:p.S341G,OXCT1:NM_001364302:exon10:c.A1027G:p.S343G,OXCT1:NM_001364299:exon11:c.A1048G:p.S350G	exonic	OXCT1	NA	nonsynonymous SNV	OXCT1:ENST00000509987.1:exon6:c.A469G:p.S157G
EGBC2	chr5	102399666	102399666	G	A	SLCO6A1	Missense_Mutation	NM_001308014	exon5	c.C944T	p.P315L	SNP	all_mutianno	exonic	SLCO6A1	NA	nonsynonymous SNV	SLCO6A1:NM_001308014:exon5:c.C944T:p.P315L,SLCO6A1:NM_001289004:exon9:c.C1517T:p.P506L,SLCO6A1:NM_001289002:exon10:c.C1703T:p.P568L,SLCO6A1:NM_173488:exon10:c.C1703T:p.P568L	exonic	SLCO6A1	NA	nonsynonymous SNV	SLCO6A1:ENST00000513675.1:exon5:c.C944T:p.P315L,SLCO6A1:ENST00000389019.7:exon9:c.C1517T:p.P506L,SLCO6A1:ENST00000379807.7:exon10:c.C1703T:p.P568L,SLCO6A1:ENST00000506729.5:exon10:c.C1703T:p.P568L
EGBC2	chr5	115268944	115268944	C	A	CCDC112	Missense_Mutation	NM_001375897	exon7	c.G1140T	p.W380C	SNP	all_mutianno	exonic	CCDC112	NA	nonsynonymous SNV	CCDC112:NM_001375897:exon7:c.G1140T:p.W380C,CCDC112:NM_001375896:exon8:c.G1389T:p.W463C,CCDC112:NM_001375898:exon8:c.G1236T:p.W412C,CCDC112:NM_001040440:exon9:c.G1485T:p.W495C,CCDC112:NM_001375899:exon9:c.G1236T:p.W412C,CCDC112:NM_152549:exon9:c.G1236T:p.W412C	exonic	CCDC112	NA	nonsynonymous SNV	CCDC112:ENST00000506442.5:exon8:c.G1140T:p.W380C,CCDC112:ENST00000395557.4:exon9:c.G1236T:p.W412C,CCDC112:ENST00000512261.5:exon10:c.G1236T:p.W412C
EGBC2	chr5	140809000	140809000	G	C	PCDHA4	Missense_Mutation	NM_018907	exon1	c.G1813C	p.A605P	SNP	all_mutianno	exonic	PCDHA4	NA	nonsynonymous SNV	PCDHA4:NM_018907:exon1:c.G1813C:p.A605P,PCDHA4:NM_031500:exon1:c.G1813C:p.A605P	exonic	PCDHA4	NA	nonsynonymous SNV	PCDHA4:ENST00000512229.6:exon1:c.G1813C:p.A605P,PCDHA4:ENST00000618834.1:exon1:c.G1813C:p.A605P,PCDHA4:ENST00000378125.4:exon2:c.G1810C:p.A604P
EGBC2	chr5	146260819	146260819	A	C	RBM27	Missense_Mutation	NM_018989	exon12	c.A1814C	p.K605T	SNP	all_mutianno	exonic	RBM27	NA	nonsynonymous SNV	RBM27:NM_018989:exon12:c.A1814C:p.K605T	exonic	RBM27;RP11-449H3.3	NA	nonsynonymous SNV	RP11-449H3.3:ENST00000506502.2:exon11:c.A1649C:p.K550T
EGBC2	chr5	157055249	157055249	C	A	HAVCR1	Missense_Mutation	NM_012206	exon2	c.G331T	p.G111W	SNP	all_mutianno	exonic	HAVCR1	NA	nonsynonymous SNV	HAVCR1:NM_012206:exon2:c.G331T:p.G111W,HAVCR1:NM_001173393:exon3:c.G331T:p.G111W,HAVCR1:NM_001308156:exon3:c.G331T:p.G111W	exonic	HAVCR1	NA	nonsynonymous SNV	HAVCR1:ENST00000339252.7:exon2:c.G331T:p.G111W,HAVCR1:ENST00000625904.2:exon2:c.G331T:p.G111W,HAVCR1:ENST00000522693.5:exon3:c.G331T:p.G111W,HAVCR1:ENST00000523175.5:exon3:c.G331T:p.G111W
EGBC2	chr5	159972142	159972142	G	T	ADRA1B	Missense_Mutation	NM_000679	exon2	c.G1213T	p.D405Y	SNP	all_mutianno	exonic	ADRA1B	NA	nonsynonymous SNV	ADRA1B:NM_000679:exon2:c.G1213T:p.D405Y	exonic	ADRA1B	NA	unknown	UNKNOWN
EGBC2	chr5	178957065	178957065	G	C	ZNF454	Missense_Mutation	NM_001323307	exon5	c.G410C	p.S137T	SNP	all_mutianno	exonic	ZNF454	NA	nonsynonymous SNV	ZNF454:NM_001323307:exon5:c.G410C:p.S137T,ZNF454:NM_001323308:exon5:c.G410C:p.S137T,ZNF454:NM_001323309:exon5:c.G410C:p.S137T,ZNF454:NM_001323310:exon5:c.G410C:p.S137T	intronic	ZNF454	NA	NA	NA
EGBC2	chr6	10409921	10409921	G	A	TFAP2A	Missense_Mutation	NM_001032280	exon2	c.C442T	p.H148Y	SNP	all_mutianno	exonic	TFAP2A	NA	nonsynonymous SNV	TFAP2A:NM_001032280:exon2:c.C442T:p.H148Y,TFAP2A:NM_001042425:exon2:c.C448T:p.H150Y,TFAP2A:NM_001372066:exon2:c.C466T:p.H156Y	exonic	TFAP2A	NA	nonsynonymous SNV	TFAP2A:ENST00000319516.8:exon2:c.C448T:p.H150Y,TFAP2A:ENST00000482890.5:exon3:c.C460T:p.H154Y
EGBC2	chr6	27866857	27866857	T	C	H1-5	Missense_Mutation	NM_005322	exon1	c.A673G	p.K225E	SNP	all_mutianno	exonic	H1-5	NA	nonsynonymous SNV	H1-5:NM_005322:exon1:c.A673G:p.K225E	exonic	HIST1H1B	NA	nonsynonymous SNV	HIST1H1B:ENST00000331442.4:exon1:c.A673G:p.K225E
EGBC2	chr6	43308792	43308792	T	C	CRIP3	Translation_Start_Site	NM_001366068	exon1	c.A1G	p.M1?	SNP	all_mutianno	exonic	CRIP3	NA	startloss	CRIP3:NM_001366068:exon1:c.A1G:p.M1?,CRIP3:NM_206922:exon1:c.A1G:p.M1?	exonic	CRIP3	NA	startloss	CRIP3:ENST00000274990.4:exon1:c.A1G:p.M1?,CRIP3:ENST00000372569.7:exon1:c.A1G:p.M1?
EGBC2	chr6	46688295	46688295	C	A	TDRD6	Missense_Mutation	NM_001010870	exon1	c.C167A	p.T56K	SNP	all_mutianno	exonic	TDRD6	NA	nonsynonymous SNV	TDRD6:NM_001010870:exon1:c.C167A:p.T56K,TDRD6:NM_001168359:exon1:c.C167A:p.T56K	exonic	TDRD6	NA	nonsynonymous SNV	TDRD6:ENST00000544460.5:exon1:c.C167A:p.T56K
EGBC2	chr6	49456119	49456119	C	A	MMUT	Missense_Mutation	NM_000255	exon4	c.G872T	p.G291V	SNP	all_mutianno	exonic	MMUT	NA	nonsynonymous SNV	MMUT:NM_000255:exon4:c.G872T:p.G291V	exonic	MUT	NA	unknown	UNKNOWN
EGBC2	chr6	49551387	49551387	A	T	C6orf141	Nonsense_Mutation	NM_001145652	exon1	c.A595T	p.R199X	SNP	all_mutianno	exonic	C6orf141	NA	stopgain	C6orf141:NM_001145652:exon1:c.A595T:p.R199X	exonic	C6orf141	NA	stopgain	C6orf141:ENST00000529246.3:exon1:c.A595T:p.R199X
EGBC2	chr6	56594190	56594190	G	A	DST	Nonsense_Mutation	NM_015548	exon29	c.C4330T	p.Q1444X	SNP	all_mutianno	exonic	DST	NA	stopgain	DST:NM_015548:exon29:c.C4330T:p.Q1444X,DST:NM_001374730:exon39:c.C5308T:p.Q1770X,DST:NM_183380:exon39:c.C5308T:p.Q1770X,DST:NM_001144770:exon40:c.C5428T:p.Q1810X,DST:NM_001144769:exon42:c.C5842T:p.Q1948X,DST:NM_001374729:exon44:c.C11566T:p.Q3856X,DST:NM_001374722:exon48:c.C12199T:p.Q4067X,DST:NM_001374734:exon48:c.C12226T:p.Q4076X,DST:NM_001374736:exon48:c.C12199T:p.Q4067X	exonic	DST	NA	stopgain	DST:ENST00000244364.10:exon29:c.C4330T:p.Q1444X,DST:ENST00000370788.6:exon39:c.C5308T:p.Q1770X,DST:ENST00000421834.6:exon39:c.C5308T:p.Q1770X,DST:ENST00000312431.10:exon40:c.C5428T:p.Q1810X,DST:ENST00000361203.7:exon44:c.C11566T:p.Q3856X
EGBC2	chr6	69332933	69332933	T	A	ADGRB3	Missense_Mutation	NM_001704	exon24	c.T3113A	p.V1038E	SNP	all_mutianno	exonic	ADGRB3	NA	nonsynonymous SNV	ADGRB3:NM_001704:exon24:c.T3113A:p.V1038E	exonic	ADGRB3	NA	nonsynonymous SNV	ADGRB3:ENST00000238918.12:exon8:c.T731A:p.V244E,ADGRB3:ENST00000546190.5:exon22:c.T3113A:p.V1038E
EGBC2	chr6	72182519	72182519	G	T	RIMS1	Missense_Mutation	NM_014989	exon6	c.G1048T	p.D350Y	SNP	all_mutianno	exonic	RIMS1	NA	nonsynonymous SNV	RIMS1:NM_014989:exon6:c.G1048T:p.D350Y	exonic	RIMS1	NA	nonsynonymous SNV	RIMS1:ENST00000264839.11:exon6:c.G1048T:p.D350Y,RIMS1:ENST00000491071.6:exon6:c.G1048T:p.D350Y,RIMS1:ENST00000517960.5:exon6:c.G1048T:p.D350Y,RIMS1:ENST00000518273.5:exon6:c.G1048T:p.D350Y,RIMS1:ENST00000520567.5:exon6:c.G1048T:p.D350Y,RIMS1:ENST00000521978.5:exon6:c.G1048T:p.D350Y,RIMS1:ENST00000522291.5:exon6:c.G1048T:p.D350Y
EGBC2	chr6	73309563	73309563	C	A	KHDC1	Missense_Mutation	NM_001251874	exon1	c.G152T	p.R51L	SNP	all_mutianno	exonic	KHDC1	NA	nonsynonymous SNV	KHDC1:NM_001251874:exon1:c.G152T:p.R51L	exonic	KHDC1	NA	nonsynonymous SNV	KHDC1:ENST00000370384.7:exon1:c.G152T:p.R51L
EGBC2	chr6	85574351	85574351	C	A	SNX14	Missense_Mutation	NM_001297614	exon2	c.G168T	p.W56C	SNP	all_mutianno	exonic	SNX14	NA	nonsynonymous SNV	SNX14:NM_001297614:exon2:c.G168T:p.W56C,SNX14:NM_001304479:exon2:c.G12T:p.W4C,SNX14:NM_001350533:exon2:c.G168T:p.W56C,SNX14:NM_001350534:exon2:c.G168T:p.W56C,SNX14:NM_001350535:exon2:c.G168T:p.W56C,SNX14:NM_001350536:exon2:c.G168T:p.W56C,SNX14:NM_001350537:exon2:c.G168T:p.W56C,SNX14:NM_001350538:exon2:c.G168T:p.W56C,SNX14:NM_001350539:exon2:c.G12T:p.W4C,SNX14:NM_001350540:exon2:c.G168T:p.W56C,SNX14:NM_001350541:exon2:c.G168T:p.W56C,SNX14:NM_001350542:exon2:c.G12T:p.W4C,SNX14:NM_001350543:exon2:c.G12T:p.W4C,SNX14:NM_001350544:exon2:c.G12T:p.W4C,SNX14:NM_020468:exon2:c.G168T:p.W56C,SNX14:NM_153816:exon2:c.G168T:p.W56C,SNX14:NM_001350532:exon3:c.G231T:p.W77C	exonic	SNX14	NA	nonsynonymous SNV	SNX14:ENST00000346348.7:exon2:c.G168T:p.W56C,SNX14:ENST00000369627.6:exon2:c.G168T:p.W56C,SNX14:ENST00000505648.5:exon2:c.G12T:p.W4C,SNX14:ENST00000513865.5:exon2:c.G168T:p.W56C
EGBC2	chr6	108049302	108049302	G	T	OSTM1	Nonsense_Mutation	NM_014028	exon5	c.C900A	p.Y300X	SNP	all_mutianno	exonic	OSTM1	NA	stopgain	OSTM1:NM_014028:exon5:c.C900A:p.Y300X	exonic	OSTM1	NA	unknown	UNKNOWN
EGBC2	chr6	109499096	109499096	G	A	AK9	Missense_Mutation	NM_001145128	exon36	c.C4994T	p.A1665V	SNP	all_mutianno	exonic	AK9	NA	nonsynonymous SNV	AK9:NM_001145128:exon36:c.C4994T:p.A1665V	exonic	AK9	NA	nonsynonymous SNV	AK9:ENST00000424296.6:exon36:c.C4994T:p.A1665V
EGBC2	chr6	145805062	145805062	C	A	FBXO30	Missense_Mutation	NM_001348092	exon2	c.G1344T	p.M448I	SNP	all_mutianno	exonic	FBXO30	NA	nonsynonymous SNV	FBXO30:NM_001348092:exon2:c.G1344T:p.M448I,FBXO30:NM_032145:exon2:c.G1344T:p.M448I	exonic	FBXO30	NA	unknown	UNKNOWN
EGBC2	chr7	4861089	4861089	A	G	PAPOLB	Missense_Mutation	NM_020144	exon1	c.T722C	p.I241T	SNP	all_mutianno	exonic	PAPOLB	NA	nonsynonymous SNV	PAPOLB:NM_020144:exon1:c.T722C:p.I241T	exonic	PAPOLB	NA	unknown	UNKNOWN
EGBC2	chr7	5315967	5315967	T	A	TNRC18	Missense_Mutation	NM_001080495	exon25	c.A6851T	p.Y2284F	SNP	all_mutianno	exonic	TNRC18	NA	nonsynonymous SNV	TNRC18:NM_001080495:exon25:c.A6851T:p.Y2284F	exonic	TNRC18	NA	nonsynonymous SNV	TNRC18:ENST00000399537.8:exon25:c.A6851T:p.Y2284F,TNRC18:ENST00000430969.5:exon25:c.A6851T:p.Y2284F
EGBC2	chr7	21725827	21725827	C	A	DNAH11	Missense_Mutation	NM_001277115	exon45	c.C7283A	p.A2428D	SNP	all_mutianno	exonic	DNAH11	NA	nonsynonymous SNV	DNAH11:NM_001277115:exon45:c.C7283A:p.A2428D	exonic	DNAH11	NA	nonsynonymous SNV	DNAH11:ENST00000328843.10:exon46:c.C7304A:p.A2435D,DNAH11:ENST00000620169.4:exon46:c.C7304A:p.A2435D
EGBC2	chr7	33152787	33152787	G	T	BBS9	Missense_Mutation	NM_001348042	exon2	c.G64T	p.D22Y	SNP	all_mutianno	exonic	BBS9	NA	nonsynonymous SNV	BBS9:NM_001348042:exon2:c.G64T:p.D22Y,BBS9:NM_001033604:exon3:c.G199T:p.D67Y,BBS9:NM_001033605:exon3:c.G199T:p.D67Y,BBS9:NM_001348036:exon3:c.G199T:p.D67Y,BBS9:NM_001348040:exon3:c.G199T:p.D67Y,BBS9:NM_001348041:exon3:c.G199T:p.D67Y,BBS9:NM_001348043:exon3:c.G199T:p.D67Y,BBS9:NM_001362679:exon3:c.G199T:p.D67Y,BBS9:NM_014451:exon3:c.G199T:p.D67Y,BBS9:NM_198428:exon3:c.G199T:p.D67Y	exonic	BBS9	NA	nonsynonymous SNV	BBS9:ENST00000425508.6:exon2:c.G64T:p.D22Y,BBS9:ENST00000242067.10:exon3:c.G199T:p.D67Y,BBS9:ENST00000350941.7:exon3:c.G199T:p.D67Y,BBS9:ENST00000355070.6:exon3:c.G199T:p.D67Y,BBS9:ENST00000396127.6:exon3:c.G199T:p.D67Y
EGBC2	chr7	36870422	36870422	T	C	ELMO1	Missense_Mutation	NM_001039459	exon5	c.A436G	p.K146E	SNP	all_mutianno	exonic	ELMO1	NA	nonsynonymous SNV	ELMO1:NM_001039459:exon5:c.A436G:p.K146E,ELMO1:NM_130442:exon5:c.A436G:p.K146E,ELMO1:NM_001206480:exon20:c.A1876G:p.K626E,ELMO1:NM_001206482:exon20:c.A1876G:p.K626E,ELMO1:NM_014800:exon20:c.A1876G:p.K626E	exonic	ELMO1	NA	nonsynonymous SNV	ELMO1:ENST00000396040.6:exon5:c.A436G:p.K146E,ELMO1:ENST00000396045.7:exon5:c.A436G:p.K146E,ELMO1:ENST00000310758.8:exon20:c.A1876G:p.K626E,ELMO1:ENST00000442504.5:exon20:c.A1876G:p.K626E,ELMO1:ENST00000448602.5:exon20:c.A1876G:p.K626E
EGBC2	chr7	48372299	48372299	C	A	ABCA13	Missense_Mutation	NM_152701	exon33	c.C10935A	p.S3645R	SNP	all_mutianno	exonic	ABCA13	NA	nonsynonymous SNV	ABCA13:NM_152701:exon33:c.C10935A:p.S3645R	exonic	ABCA13	NA	unknown	UNKNOWN
EGBC2	chr7	57120494	57120494	G	T	ZNF479	Missense_Mutation	NM_001370129	exon4	c.C921A	p.S307R	SNP	all_mutianno	exonic	ZNF479	NA	nonsynonymous SNV	ZNF479:NM_001370129:exon4:c.C921A:p.S307R,ZNF479:NM_033273:exon5:c.C921A:p.S307R	exonic	ZNF479	NA	nonsynonymous SNV	ZNF479:ENST00000319636.9:exon4:c.C921A:p.S307R,ZNF479:ENST00000331162.8:exon5:c.C921A:p.S307R
EGBC2	chr7	82966169	82966169	C	A	PCLO	Missense_Mutation	NM_014510	exon4	c.G3619T	p.A1207S	SNP	all_mutianno	exonic	PCLO	NA	nonsynonymous SNV	PCLO:NM_014510:exon4:c.G3619T:p.A1207S,PCLO:NM_033026:exon4:c.G3619T:p.A1207S	exonic	PCLO	NA	nonsynonymous SNV	PCLO:ENST00000423517.6:exon4:c.G3619T:p.A1207S
EGBC2	chr7	89334157	89334157	C	G	ZNF804B	Missense_Mutation	NM_181646	exon4	c.C1175G	p.P392R	SNP	all_mutianno	exonic	ZNF804B	NA	nonsynonymous SNV	ZNF804B:NM_181646:exon4:c.C1175G:p.P392R	exonic	ZNF804B	NA	nonsynonymous SNV	ZNF804B:ENST00000611114.1:exon3:c.C926G:p.P309R,ZNF804B:ENST00000333190.4:exon4:c.C1175G:p.P392R
EGBC2	chr7	92052935	92052935	G	T	AKAP9	Missense_Mutation	NM_005751	exon22	c.G5578T	p.A1860S	SNP	all_mutianno	exonic	AKAP9	NA	nonsynonymous SNV	AKAP9:NM_005751:exon22:c.G5578T:p.A1860S,AKAP9:NM_147185:exon22:c.G5578T:p.A1860S	exonic	AKAP9	NA	nonsynonymous SNV	AKAP9:ENST00000358100.6:exon21:c.G5437T:p.A1813S,AKAP9:ENST00000356239.7:exon22:c.G5578T:p.A1860S,AKAP9:ENST00000359028.6:exon23:c.G5611T:p.A1871S
EGBC2	chr7	100775746	100775746	C	A	ZAN	Missense_Mutation	NM_003386	exon33	c.C6105A	p.S2035R	SNP	all_mutianno	exonic	ZAN	NA	nonsynonymous SNV	ZAN:NM_003386:exon33:c.C6105A:p.S2035R,ZAN:NM_173059:exon33:c.C6105A:p.S2035R	exonic	ZAN	NA	nonsynonymous SNV	ZAN:ENST00000546292.2:exon32:c.C6105A:p.S2035R,ZAN:ENST00000618565.4:exon32:c.C6105A:p.S2035R,ZAN:ENST00000613979.4:exon33:c.C6105A:p.S2035R,ZAN:ENST00000620596.4:exon33:c.C6105A:p.S2035R
EGBC2	chr7	101036307	101036307	C	A	MUC17	Missense_Mutation	NM_001040105	exon3	c.C4891A	p.P1631T	SNP	all_mutianno	exonic	MUC17	NA	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C4891A:p.P1631T	exonic	MUC17	NA	nonsynonymous SNV	MUC17:ENST00000306151.8:exon3:c.C4891A:p.P1631T
EGBC2	chr7	103515311	103515311	C	CT	RELN	Frame_Shift_Ins	NM_005045	exon50	c.7992_7993insA	p.D2665Rfs*19	INS	all_mutianno	exonic	RELN	NA	frameshift insertion	RELN:NM_005045:exon50:c.7992_7993insA:p.D2665Rfs*19,RELN:NM_173054:exon50:c.7992_7993insA:p.D2665Rfs*19	exonic	RELN	NA	frameshift insertion	RELN:ENST00000343529.9:exon50:c.7992_7993insA:p.D2665Rfs*19,RELN:ENST00000424685.2:exon50:c.7992_7993insA:p.D2665Rfs*19
EGBC2	chr7	103545333	103545333	A	T	RELN	Missense_Mutation	NM_005045	exon42	c.T6314A	p.F2105Y	SNP	all_mutianno	exonic	RELN	NA	nonsynonymous SNV	RELN:NM_005045:exon42:c.T6314A:p.F2105Y,RELN:NM_173054:exon42:c.T6314A:p.F2105Y	exonic	RELN	NA	nonsynonymous SNV	RELN:ENST00000343529.9:exon42:c.T6314A:p.F2105Y,RELN:ENST00000424685.2:exon42:c.T6314A:p.F2105Y
EGBC2	chr7	105974844	105974844	G	T	CDHR3	Missense_Mutation	NM_152750	exon2	c.G47T	p.G16V	SNP	all_mutianno	exonic	CDHR3	NA	nonsynonymous SNV	CDHR3:NM_152750:exon2:c.G47T:p.G16V	exonic	CDHR3	NA	unknown	UNKNOWN
EGBC2	chr7	130279478	130279478	G	A	CPA2	Missense_Mutation	NM_001869	exon9	c.G803A	p.S268N	SNP	all_mutianno	exonic	CPA2	NA	nonsynonymous SNV	CPA2:NM_001869:exon9:c.G803A:p.S268N	exonic	CPA2	NA	unknown	UNKNOWN
EGBC2	chr7	134183768	134183768	C	G	LRGUK	Missense_Mutation	NM_001365700	exon11	c.C1249G	p.L417V	SNP	all_mutianno	exonic	LRGUK	NA	nonsynonymous SNV	LRGUK:NM_001365700:exon11:c.C1249G:p.L417V,LRGUK:NM_001365701:exon11:c.C1249G:p.L417V,LRGUK:NM_144648:exon11:c.C1249G:p.L417V	exonic	LRGUK	NA	nonsynonymous SNV	LRGUK:ENST00000285928.2:exon11:c.C1249G:p.L417V
EGBC2	chr7	135606855	135606855	C	T	NUP205	Missense_Mutation	NM_001329434	exon21	c.C1936T	p.L646F	SNP	all_mutianno	exonic	NUP205	NA	nonsynonymous SNV	NUP205:NM_001329434:exon21:c.C1936T:p.L646F,NUP205:NM_015135:exon21:c.C3010T:p.L1004F	exonic	NUP205	NA	unknown	UNKNOWN
EGBC2	chr7	140335406	140335406	C	A	SLC37A3	Missense_Mutation	NM_001363377	exon10	c.G925T	p.A309S	SNP	all_mutianno	exonic	SLC37A3	NA	nonsynonymous SNV	SLC37A3:NM_001363377:exon10:c.G925T:p.A309S,SLC37A3:NM_032295:exon12:c.G1189T:p.A397S,SLC37A3:NM_001363374:exon13:c.G1291T:p.A431S,SLC37A3:NM_001363373:exon14:c.G1339T:p.A447S	exonic	SLC37A3	NA	nonsynonymous SNV	SLC37A3:ENST00000340308.7:exon12:c.G1189T:p.A397S
EGBC2	chr7	140602222	140602222	A	C	DENND2A	Missense_Mutation	NM_001318052	exon2	c.T176G	p.V59G	SNP	all_mutianno	exonic	DENND2A	NA	nonsynonymous SNV	DENND2A:NM_001318052:exon2:c.T176G:p.V59G,DENND2A:NM_001318053:exon3:c.T176G:p.V59G,DENND2A:NM_001362678:exon3:c.T176G:p.V59G,DENND2A:NM_015689:exon3:c.T176G:p.V59G	exonic	DENND2A	NA	nonsynonymous SNV	DENND2A:ENST00000537639.5:exon1:c.T176G:p.V59G,DENND2A:ENST00000275884.10:exon2:c.T176G:p.V59G,DENND2A:ENST00000492720.5:exon2:c.T176G:p.V59G
EGBC2	chr7	142034839	142034839	A	C	MGAM	Missense_Mutation	NM_001365693	exon16	c.A1957C	p.M653L	SNP	all_mutianno	exonic	MGAM	NA	nonsynonymous SNV	MGAM:NM_001365693:exon16:c.A1957C:p.M653L,MGAM:NM_004668:exon16:c.A1957C:p.M653L	exonic	MGAM	NA	nonsynonymous SNV	MGAM:ENST00000475668.6:exon16:c.A1957C:p.M653L,MGAM:ENST00000549489.6:exon16:c.A1957C:p.M653L,MGAM:ENST00000620571.1:exon16:c.A1957C:p.M653L
EGBC2	chr7	144365266	144365266	G	T	ARHGEF5	Missense_Mutation	NM_005435	exon2	c.G2597T	p.R866L	SNP	all_mutianno	exonic	ARHGEF5	NA	nonsynonymous SNV	ARHGEF5:NM_005435:exon2:c.G2597T:p.R866L	exonic	ARHGEF5	NA	unknown	UNKNOWN
EGBC2	chr7	149206810	149206810	C	A	ZNF282	Missense_Mutation	NM_001303481	exon3	c.C700A	p.L234I	SNP	all_mutianno	exonic	ZNF282	NA	nonsynonymous SNV	ZNF282:NM_001303481:exon3:c.C700A:p.L234I,ZNF282:NM_003575:exon3:c.C700A:p.L234I	exonic	ZNF282	NA	nonsynonymous SNV	ZNF282:ENST00000479907.1:exon3:c.C700A:p.L234I
EGBC2	chr8	26864834	26864834	G	T	ADRA1A	Missense_Mutation	NM_001322502	exon1	c.C136A	p.L46I	SNP	all_mutianno	exonic	ADRA1A	NA	nonsynonymous SNV	ADRA1A:NM_001322502:exon1:c.C136A:p.L46I,ADRA1A:NM_001322503:exon1:c.C136A:p.L46I,ADRA1A:NM_001322504:exon1:c.C136A:p.L46I,ADRA1A:NM_033302:exon1:c.C136A:p.L46I,ADRA1A:NM_033303:exon1:c.C136A:p.L46I,ADRA1A:NM_033304:exon1:c.C136A:p.L46I,ADRA1A:NM_000680:exon2:c.C136A:p.L46I	exonic	ADRA1A	NA	nonsynonymous SNV	ADRA1A:ENST00000276393.8:exon1:c.C136A:p.L46I,ADRA1A:ENST00000354550.4:exon1:c.C136A:p.L46I,ADRA1A:ENST00000380572.3:exon1:c.C136A:p.L46I,ADRA1A:ENST00000380582.7:exon1:c.C136A:p.L46I,ADRA1A:ENST00000380586.5:exon1:c.C136A:p.L46I,ADRA1A:ENST00000519229.5:exon1:c.C136A:p.L46I,ADRA1A:ENST00000380573.3:exon2:c.C136A:p.L46I
EGBC2	chr8	36932978	36932978	G	T	KCNU1	Missense_Mutation	NM_001031836	exon26	c.G2990T	p.C997F	SNP	all_mutianno	exonic	KCNU1	NA	nonsynonymous SNV	KCNU1:NM_001031836:exon26:c.G2990T:p.C997F	exonic	KCNU1	NA	unknown	UNKNOWN
EGBC2	chr8	42838270	42838270	C	A	THAP1	Missense_Mutation	NM_199003	exon2	c.G138T	p.R46S	SNP	all_mutianno	exonic	THAP1	NA	nonsynonymous SNV	THAP1:NM_199003:exon2:c.G138T:p.R46S,THAP1:NM_018105:exon3:c.G334T:p.V112F	exonic	THAP1	NA	nonsynonymous SNV	THAP1:ENST00000345117.2:exon2:c.G138T:p.R46S,THAP1:ENST00000254250.7:exon3:c.G334T:p.V112F
EGBC2	chr8	47893247	47893247	G	A	PRKDC	Missense_Mutation	NM_001081640	exon31	c.C3739T	p.P1247S	SNP	all_mutianno	exonic	PRKDC	NA	nonsynonymous SNV	PRKDC:NM_001081640:exon31:c.C3739T:p.P1247S,PRKDC:NM_006904:exon31:c.C3739T:p.P1247S	exonic	PRKDC	NA	nonsynonymous SNV	PRKDC:ENST00000314191.6:exon31:c.C3739T:p.P1247S,PRKDC:ENST00000338368.7:exon31:c.C3739T:p.P1247S
EGBC2	chr8	64616278	64616278	T	G	CYP7B1	Missense_Mutation	NM_001324112	exon3	c.A263C	p.K88T	SNP	all_mutianno	exonic	CYP7B1	NA	nonsynonymous SNV	CYP7B1:NM_001324112:exon3:c.A263C:p.K88T,CYP7B1:NM_004820:exon3:c.A263C:p.K88T	exonic	CYP7B1	NA	unknown	UNKNOWN
EGBC2	chr8	74825457	74825457	A	G	PI15	Missense_Mutation	NM_001324403	exon2	c.A208G	p.I70V	SNP	all_mutianno	exonic	PI15	NA	nonsynonymous SNV	PI15:NM_001324403:exon2:c.A208G:p.I70V,PI15:NM_015886:exon2:c.A208G:p.I70V	exonic	PI15	NA	nonsynonymous SNV	PI15:ENST00000523773.1:exon1:c.A208G:p.I70V
EGBC2	chr8	76852128	76852128	A	C	ZFHX4	Missense_Mutation	NM_024721	exon10	c.A5207C	p.Q1736P	SNP	all_mutianno	exonic	ZFHX4	NA	nonsynonymous SNV	ZFHX4:NM_024721:exon10:c.A5207C:p.Q1736P	exonic	ZFHX4	NA	nonsynonymous SNV	ZFHX4:ENST00000518282.5:exon9:c.A5129C:p.Q1710P
EGBC2	chr8	109443011	109443011	G	T	PKHD1L1	Missense_Mutation	NM_177531	exon36	c.G4459T	p.A1487S	SNP	all_mutianno	exonic	PKHD1L1	NA	nonsynonymous SNV	PKHD1L1:NM_177531:exon36:c.G4459T:p.A1487S	exonic	PKHD1L1	NA	unknown	UNKNOWN
EGBC2	chr8	138153216	138153216	C	A	FAM135B	Missense_Mutation	NM_001362965	exon13	c.G1259T	p.G420V	SNP	all_mutianno	exonic	FAM135B	NA	nonsynonymous SNV	FAM135B:NM_001362965:exon13:c.G1259T:p.G420V,FAM135B:NM_015912:exon13:c.G1259T:p.G420V	exonic	FAM135B	NA	unknown	UNKNOWN
EGBC2	chr9	122076	122076	G	C	CBWD1	Missense_Mutation	NM_001145356	exon13	c.C909G	p.I303M	SNP	all_mutianno	exonic	CBWD1	NA	nonsynonymous SNV	CBWD1:NM_001145356:exon13:c.C909G:p.I303M,CBWD1:NM_018491:exon14:c.C966G:p.I322M,CBWD1:NM_001145355:exon15:c.C858G:p.I286M	exonic	CBWD1	NA	nonsynonymous SNV	CBWD1:ENST00000613508.4:exon12:c.C822G:p.I274M,CBWD1:ENST00000382447.8:exon13:c.C909G:p.I303M,CBWD1:ENST00000356521.8:exon14:c.C966G:p.I322M,CBWD1:ENST00000377400.8:exon14:c.C966G:p.I322M,CBWD1:ENST00000314367.14:exon15:c.C858G:p.I286M
EGBC2	chr9	6592184	6592184	G	T	GLDC	Missense_Mutation	NM_000170	exon11	c.C1441A	p.L481M	SNP	all_mutianno	exonic	GLDC	NA	nonsynonymous SNV	GLDC:NM_000170:exon11:c.C1441A:p.L481M	exonic	GLDC	NA	nonsynonymous SNV	GLDC:ENST00000321612.7:exon11:c.C1441A:p.L481M
EGBC2	chr9	35869579	35869579	T	C	OR13J1	Missense_Mutation	NM_001004487	exon1	c.A823G	p.T275A	SNP	all_mutianno	exonic	OR13J1	NA	nonsynonymous SNV	OR13J1:NM_001004487:exon1:c.A823G:p.T275A	exonic	OR13J1	NA	nonsynonymous SNV	OR13J1:ENST00000377981.3:exon1:c.A823G:p.T275A
EGBC2	chr9	134796396	134796396	C	A	COL5A1	Missense_Mutation	NM_000093	exon35	c.C2822A	p.P941Q	SNP	all_mutianno	exonic	COL5A1	NA	nonsynonymous SNV	COL5A1:NM_000093:exon35:c.C2822A:p.P941Q,COL5A1:NM_001278074:exon35:c.C2822A:p.P941Q	exonic	COL5A1	NA	nonsynonymous SNV	COL5A1:ENST00000371817.7:exon35:c.C2822A:p.P941Q,COL5A1:ENST00000618395.4:exon35:c.C2822A:p.P941Q
EGBC2	chr9	136517800	136517800	C	A	NOTCH1	Missense_Mutation	NM_017617	exon8	c.G1393T	p.A465S	SNP	all_mutianno	exonic	NOTCH1	NA	nonsynonymous SNV	NOTCH1:NM_017617:exon8:c.G1393T:p.A465S	exonic	NOTCH1	NA	unknown	UNKNOWN
EGBC2	chr10	1041308	1041308	C	G	IDI1	Missense_Mutation	NM_001317957	exon4	c.G476C	p.S159T	SNP	all_mutianno	exonic	IDI1	NA	nonsynonymous SNV	IDI1:NM_001317957:exon4:c.G476C:p.S159T,IDI1:NM_001317956:exon5:c.G566C:p.S189T,IDI1:NM_004508:exon5:c.G734C:p.S245T,IDI1:NM_001317955:exon6:c.G566C:p.S189T	exonic	IDI1	NA	nonsynonymous SNV	IDI1:ENST00000381344.7:exon5:c.G734C:p.S245T
EGBC2	chr10	18546089	18546089	C	A	NSUN6	Missense_Mutation	NM_001351118	exon9	c.G831T	p.L277F	SNP	all_mutianno	exonic	NSUN6	NA	nonsynonymous SNV	NSUN6:NM_001351118:exon9:c.G831T:p.L277F,NSUN6:NM_001351117:exon10:c.G1098T:p.L366F,NSUN6:NM_001351115:exon11:c.G1251T:p.L417F,NSUN6:NM_182543:exon11:c.G1254T:p.L418F,NSUN6:NM_001351116:exon12:c.G1218T:p.L406F	exonic	NSUN6	NA	unknown	UNKNOWN
EGBC2	chr10	20245392	20245392	G	T	PLXDC2	Missense_Mutation	NM_001282736	exon12	c.G1213T	p.A405S	SNP	all_mutianno	exonic	PLXDC2	NA	nonsynonymous SNV	PLXDC2:NM_001282736:exon12:c.G1213T:p.A405S,PLXDC2:NM_032812:exon13:c.G1360T:p.A454S	exonic	PLXDC2	NA	nonsynonymous SNV	PLXDC2:ENST00000377242.7:exon12:c.G1213T:p.A405S
EGBC2	chr10	22607927	22607927	C	A	PIP4K2A	Missense_Mutation	NM_001330062	exon3	c.G162T	p.Q54H	SNP	all_mutianno	exonic	PIP4K2A	NA	nonsynonymous SNV	PIP4K2A:NM_001330062:exon3:c.G162T:p.Q54H,PIP4K2A:NM_005028:exon3:c.G339T:p.Q113H	exonic	PIP4K2A	NA	nonsynonymous SNV	PIP4K2A:ENST00000545335.5:exon3:c.G162T:p.Q54H
EGBC2	chr10	43475791	43475791	A	T	ZNF487	Missense_Mutation	NM_001355447	exon2	c.A86T	p.Q29L	SNP	all_mutianno	exonic	ZNF487	NA	nonsynonymous SNV	ZNF487:NM_001355447:exon2:c.A86T:p.Q29L,ZNF487:NM_001355448:exon2:c.A86T:p.Q29L	UTR5	ZNF487	ENST00000437590.2:c.-20A>T	NA	NA
EGBC2	chr10	45784650	45784650	A	T	WASHC2C	Missense_Mutation	NM_001169107	exon22	c.A2339T	p.N780I	SNP	all_mutianno	exonic	WASHC2C	NA	nonsynonymous SNV	WASHC2C:NM_001169107:exon22:c.A2339T:p.N780I,WASHC2C:NM_001367396:exon22:c.A2339T:p.N780I,WASHC2C:NM_001367404:exon22:c.A2405T:p.N802I,WASHC2C:NM_001367394:exon23:c.A2492T:p.N831I,WASHC2C:NM_001367400:exon23:c.A2492T:p.N831I,WASHC2C:NM_001367401:exon23:c.A2477T:p.N826I,WASHC2C:NM_001367403:exon23:c.A2492T:p.N831I,WASHC2C:NM_001367406:exon23:c.A674T:p.N225I,WASHC2C:NM_001367408:exon23:c.A2411T:p.N804I,WASHC2C:NM_001367413:exon23:c.A2231T:p.N744I,WASHC2C:NM_001367415:exon23:c.A2492T:p.N831I,WASHC2C:NM_001169106:exon24:c.A2564T:p.N855I,WASHC2C:NM_001330074:exon24:c.A2564T:p.N855I,WASHC2C:NM_001367393:exon24:c.A2558T:p.N853I,WASHC2C:NM_001367395:exon24:c.A2627T:p.N876I,WASHC2C:NM_001367397:exon24:c.A2564T:p.N855I,WASHC2C:NM_001367398:exon24:c.A1913T:p.N638I,WASHC2C:NM_001367399:exon24:c.A2300T:p.N767I,WASHC2C:NM_001367409:exon24:c.A2303T:p.N768I,WASHC2C:NM_001367410:exon24:c.A2300T:p.N767I,WASHC2C:NM_001367411:exon24:c.A2303T:p.N768I,WASHC2C:NM_001367416:exon24:c.A2564T:p.N855I,WASHC2C:NM_015262:exon24:c.A2564T:p.N855I,WASHC2C:NM_001367402:exon25:c.A1985T:p.N662I,WASHC2C:NM_001367405:exon25:c.A1985T:p.N662I,WASHC2C:NM_001367412:exon25:c.A1985T:p.N662I,WASHC2C:NM_001367414:exon25:c.A1985T:p.N662I,WASHC2C:NM_001367407:exon26:c.A1985T:p.N662I	exonic	WASHC2C	NA	nonsynonymous SNV	WASHC2C:ENST00000359860.7:exon23:c.A2390T:p.N797I,WASHC2C:ENST00000336378.8:exon24:c.A2564T:p.N855I,WASHC2C:ENST00000374362.6:exon24:c.A2564T:p.N855I,WASHC2C:ENST00000623400.3:exon24:c.A2564T:p.N855I
EGBC2	chr10	54369141	54369142	GC	G	PCDH15	Frame_Shift_Del	NM_001142768	exon4	c.386delG	p.S129Tfs*6	DEL	all_mutianno	exonic	PCDH15	NA	frameshift deletion	PCDH15:NM_001142768:exon4:c.386delG:p.S129Tfs*6,PCDH15:NM_001142773:exon4:c.386delG:p.S129Tfs*6,PCDH15:NM_001142764:exon5:c.452delG:p.S151Tfs*6,PCDH15:NM_001142765:exon5:c.452delG:p.S151Tfs*6,PCDH15:NM_001142766:exon5:c.452delG:p.S151Tfs*6,PCDH15:NM_001142767:exon5:c.452delG:p.S151Tfs*6,PCDH15:NM_001354411:exon5:c.452delG:p.S151Tfs*6,PCDH15:NM_001354420:exon5:c.452delG:p.S151Tfs*6,PCDH15:NM_001354429:exon5:c.452delG:p.S151Tfs*6,PCDH15:NM_001354430:exon5:c.452delG:p.S151Tfs*6,PCDH15:NM_001384140:exon5:c.452delG:p.S151Tfs*6,PCDH15:NM_033056:exon5:c.452delG:p.S151Tfs*6,PCDH15:NM_001142763:exon6:c.467delG:p.S156Tfs*6,PCDH15:NM_001354404:exon7:c.386delG:p.S129Tfs*6	exonic	PCDH15	NA	frameshift deletion	PCDH15:ENST00000395433.5:exon4:c.386delG:p.S129Tfs*6,PCDH15:ENST00000320301.10:exon5:c.452delG:p.S151Tfs*6,PCDH15:ENST00000361849.7:exon5:c.452delG:p.S151Tfs*6,PCDH15:ENST00000373955.5:exon5:c.452delG:p.S151Tfs*6,PCDH15:ENST00000373965.6:exon5:c.452delG:p.S151Tfs*6,PCDH15:ENST00000395430.5:exon5:c.452delG:p.S151Tfs*6,PCDH15:ENST00000395432.6:exon5:c.452delG:p.S151Tfs*6,PCDH15:ENST00000395438.5:exon5:c.452delG:p.S151Tfs*6,PCDH15:ENST00000395440.5:exon5:c.452delG:p.S151Tfs*6,PCDH15:ENST00000395442.5:exon5:c.452delG:p.S151Tfs*6,PCDH15:ENST00000395445.5:exon5:c.452delG:p.S151Tfs*6,PCDH15:ENST00000395446.5:exon5:c.452delG:p.S151Tfs*6,PCDH15:ENST00000414778.5:exon5:c.452delG:p.S151Tfs*6,PCDH15:ENST00000437009.5:exon5:c.452delG:p.S151Tfs*6,PCDH15:ENST00000616114.4:exon5:c.452delG:p.S151Tfs*6,PCDH15:ENST00000617271.4:exon5:c.452delG:p.S151Tfs*6,PCDH15:ENST00000622048.4:exon5:c.452delG:p.S151Tfs*6,PCDH15:ENST00000373957.7:exon6:c.467delG:p.S156Tfs*6,PCDH15:ENST00000612394.4:exon6:c.467delG:p.S156Tfs*6,PCDH15:ENST00000613657.4:exon6:c.467delG:p.S156Tfs*6,PCDH15:ENST00000614895.4:exon6:c.467delG:p.S156Tfs*6,PCDH15:ENST00000617051.4:exon6:c.467delG:p.S156Tfs*6,PCDH15:ENST00000621708.4:exon6:c.467delG:p.S156Tfs*6
EGBC2	chr10	54378823	54378823	T	A	PCDH15	Missense_Mutation	NM_001142768	exon3	c.A211T	p.M71L	SNP	all_mutianno	exonic	PCDH15	NA	nonsynonymous SNV	PCDH15:NM_001142768:exon3:c.A211T:p.M71L,PCDH15:NM_001142773:exon3:c.A211T:p.M71L,PCDH15:NM_001142764:exon4:c.A277T:p.M93L,PCDH15:NM_001142765:exon4:c.A277T:p.M93L,PCDH15:NM_001142766:exon4:c.A277T:p.M93L,PCDH15:NM_001142767:exon4:c.A277T:p.M93L,PCDH15:NM_001354411:exon4:c.A277T:p.M93L,PCDH15:NM_001354420:exon4:c.A277T:p.M93L,PCDH15:NM_001354429:exon4:c.A277T:p.M93L,PCDH15:NM_001354430:exon4:c.A277T:p.M93L,PCDH15:NM_001384140:exon4:c.A277T:p.M93L,PCDH15:NM_033056:exon4:c.A277T:p.M93L,PCDH15:NM_001142763:exon5:c.A292T:p.M98L,PCDH15:NM_001354404:exon6:c.A211T:p.M71L	exonic	PCDH15	NA	nonsynonymous SNV	PCDH15:ENST00000395433.5:exon3:c.A211T:p.M71L,PCDH15:ENST00000320301.10:exon4:c.A277T:p.M93L,PCDH15:ENST00000361849.7:exon4:c.A277T:p.M93L,PCDH15:ENST00000373955.5:exon4:c.A277T:p.M93L,PCDH15:ENST00000373965.6:exon4:c.A277T:p.M93L,PCDH15:ENST00000395430.5:exon4:c.A277T:p.M93L,PCDH15:ENST00000395432.6:exon4:c.A277T:p.M93L,PCDH15:ENST00000395438.5:exon4:c.A277T:p.M93L,PCDH15:ENST00000395440.5:exon4:c.A277T:p.M93L,PCDH15:ENST00000395442.5:exon4:c.A277T:p.M93L,PCDH15:ENST00000395445.5:exon4:c.A277T:p.M93L,PCDH15:ENST00000395446.5:exon4:c.A277T:p.M93L,PCDH15:ENST00000414778.5:exon4:c.A277T:p.M93L,PCDH15:ENST00000437009.5:exon4:c.A277T:p.M93L,PCDH15:ENST00000616114.4:exon4:c.A277T:p.M93L,PCDH15:ENST00000617271.4:exon4:c.A277T:p.M93L,PCDH15:ENST00000622048.4:exon4:c.A277T:p.M93L,PCDH15:ENST00000373957.7:exon5:c.A292T:p.M98L,PCDH15:ENST00000612394.4:exon5:c.A292T:p.M98L,PCDH15:ENST00000613657.4:exon5:c.A292T:p.M98L,PCDH15:ENST00000614895.4:exon5:c.A292T:p.M98L,PCDH15:ENST00000617051.4:exon5:c.A292T:p.M98L,PCDH15:ENST00000621708.4:exon5:c.A292T:p.M98L
EGBC2	chr10	68341591	68341591	G	A	HNRNPH3	Missense_Mutation	NM_001322444	exon6	c.G458A	p.R153Q	SNP	all_mutianno	exonic	HNRNPH3	NA	nonsynonymous SNV	HNRNPH3:NM_001322444:exon6:c.G458A:p.R153Q,HNRNPH3:NM_001322445:exon7:c.G389A:p.R130Q,HNRNPH3:NM_001322446:exon7:c.G389A:p.R130Q,HNRNPH3:NM_001322447:exon7:c.G389A:p.R130Q,HNRNPH3:NM_001322448:exon7:c.G389A:p.R130Q,HNRNPH3:NM_001322449:exon7:c.G389A:p.R130Q,HNRNPH3:NM_001322450:exon7:c.G371A:p.R124Q,HNRNPH3:NM_001322451:exon7:c.G275A:p.R92Q,HNRNPH3:NM_001322452:exon7:c.G275A:p.R92Q,HNRNPH3:NM_001322453:exon7:c.G275A:p.R92Q,HNRNPH3:NM_001322434:exon8:c.G782A:p.R261Q,HNRNPH3:NM_001322436:exon8:c.G782A:p.R261Q,HNRNPH3:NM_001322437:exon8:c.G782A:p.R261Q,HNRNPH3:NM_001322438:exon8:c.G737A:p.R246Q,HNRNPH3:NM_001322439:exon8:c.G737A:p.R246Q,HNRNPH3:NM_001322440:exon8:c.G737A:p.R246Q,HNRNPH3:NM_001322441:exon8:c.G737A:p.R246Q,HNRNPH3:NM_001322442:exon8:c.G764A:p.R255Q,HNRNPH3:NM_001322443:exon8:c.G764A:p.R255Q,HNRNPH3:NM_012207:exon8:c.G782A:p.R261Q,HNRNPH3:NM_021644:exon8:c.G737A:p.R246Q	exonic	HNRNPH3	NA	nonsynonymous SNV	HNRNPH3:ENST00000265866.11:exon8:c.G782A:p.R261Q,HNRNPH3:ENST00000354695.5:exon8:c.G737A:p.R246Q
EGBC2	chr10	70743581	70743581	C	T	ADAMTS14	Missense_Mutation	NM_080722	exon13	c.C1958T	p.A653V	SNP	all_mutianno	exonic	ADAMTS14	NA	nonsynonymous SNV	ADAMTS14:NM_080722:exon13:c.C1958T:p.A653V,ADAMTS14:NM_139155:exon13:c.C1967T:p.A656V	exonic	ADAMTS14	NA	nonsynonymous SNV	ADAMTS14:ENST00000373208.5:exon13:c.C1967T:p.A656V
EGBC2	chr10	73136880	73136880	C	T	ECD	Missense_Mutation	NM_001135753	exon12	c.G1399A	p.D467N	SNP	all_mutianno	exonic	ECD	NA	nonsynonymous SNV	ECD:NM_001135753:exon12:c.G1399A:p.D467N,ECD:NM_007265:exon13:c.G1528A:p.D510N,ECD:NM_001135752:exon14:c.G1627A:p.D543N	exonic	ECD	NA	nonsynonymous SNV	ECD:ENST00000454759.6:exon12:c.G1399A:p.D467N,ECD:ENST00000372979.8:exon13:c.G1528A:p.D510N,ECD:ENST00000430082.6:exon14:c.G1627A:p.D543N
EGBC2	chr10	86659899	86659899	C	A	OPN4	Missense_Mutation	NM_033282	exon6	c.C805A	p.L269I	SNP	all_mutianno	exonic	OPN4	NA	nonsynonymous SNV	OPN4:NM_033282:exon6:c.C805A:p.L269I,OPN4:NM_001030015:exon7:c.C838A:p.L280I	exonic	OPN4	NA	nonsynonymous SNV	OPN4:ENST00000372071.6:exon7:c.C838A:p.L280I
EGBC2	chr10	89443840	89443841	CA	C	SLC16A12	Frame_Shift_Del	NM_213606	exon4	c.219delT	p.F73Lfs*22	DEL	all_mutianno	exonic	SLC16A12	NA	frameshift deletion	SLC16A12:NM_213606:exon4:c.219delT:p.F73Lfs*22	exonic	SLC16A12	NA	unknown	UNKNOWN
EGBC2	chr10	122489447	122489447	C	G	HTRA1	Missense_Mutation	NM_002775	exon3	c.C598G	p.P200A	SNP	all_mutianno	exonic	HTRA1	NA	nonsynonymous SNV	HTRA1:NM_002775:exon3:c.C598G:p.P200A	exonic	HTRA1	NA	unknown	UNKNOWN
EGBC2	chr10	126064869	126064869	C	A	ADAM12	Missense_Mutation	NM_001288973	exon14	c.G1546T	p.G516C	SNP	all_mutianno	exonic	ADAM12	NA	nonsynonymous SNV	ADAM12:NM_001288973:exon14:c.G1546T:p.G516C,ADAM12:NM_001288974:exon14:c.G1546T:p.G516C,ADAM12:NM_001288975:exon14:c.G1546T:p.G516C,ADAM12:NM_003474:exon14:c.G1555T:p.G519C,ADAM12:NM_021641:exon14:c.G1555T:p.G519C	exonic	ADAM12	NA	nonsynonymous SNV	ADAM12:ENST00000368676.8:exon14:c.G1555T:p.G519C,ADAM12:ENST00000368679.8:exon14:c.G1555T:p.G519C
EGBC2	chr10	127380116	127380116	A	G	DOCK1	Missense_Mutation	NM_001377560	exon28	c.A2855G	p.Y952C	SNP	all_mutianno	exonic	DOCK1	NA	nonsynonymous SNV	DOCK1:NM_001377560:exon28:c.A2855G:p.Y952C,DOCK1:NM_001377554:exon34:c.A3494G:p.Y1165C,DOCK1:NM_001377558:exon34:c.A3440G:p.Y1147C,DOCK1:NM_001377547:exon35:c.A3584G:p.Y1195C,DOCK1:NM_001377548:exon35:c.A3563G:p.Y1188C,DOCK1:NM_001377550:exon35:c.A3548G:p.Y1183C,DOCK1:NM_001290223:exon36:c.A3710G:p.Y1237C,DOCK1:NM_001377543:exon36:c.A3647G:p.Y1216C,DOCK1:NM_001377546:exon36:c.A3710G:p.Y1237C,DOCK1:NM_001377553:exon36:c.A3647G:p.Y1216C,DOCK1:NM_001377556:exon36:c.A3647G:p.Y1216C,DOCK1:NM_001380:exon36:c.A3647G:p.Y1216C,DOCK1:NM_001377544:exon37:c.A3683G:p.Y1228C	exonic	DOCK1	NA	nonsynonymous SNV	DOCK1:ENST00000280333.9:exon36:c.A3647G:p.Y1216C,DOCK1:ENST00000623213.1:exon36:c.A3710G:p.Y1237C
EGBC2	chr11	6539930	6539930	C	A	DNHD1	Missense_Mutation	NM_144666	exon18	c.C3475A	p.Q1159K	SNP	all_mutianno	exonic	DNHD1	NA	nonsynonymous SNV	DNHD1:NM_144666:exon18:c.C3475A:p.Q1159K	exonic	DNHD1	NA	nonsynonymous SNV	DNHD1:ENST00000527990.6:exon16:c.C3475A:p.Q1159K,DNHD1:ENST00000254579.10:exon18:c.C3475A:p.Q1159K
EGBC2	chr11	13009895	13009895	A	T	RASSF10	Nonsense_Mutation	NM_001080521	exon1	c.A319T	p.K107X	SNP	all_mutianno	exonic	RASSF10	NA	stopgain	RASSF10:NM_001080521:exon1:c.A319T:p.K107X	exonic	RASSF10	NA	stopgain	RASSF10:ENST00000529419.2:exon1:c.A319T:p.K107X
EGBC2	chr11	32103376	32103376	G	T	RCN1	Missense_Mutation	NM_002901	exon5	c.G784T	p.G262W	SNP	all_mutianno	exonic	RCN1	NA	nonsynonymous SNV	RCN1:NM_002901:exon5:c.G784T:p.G262W	exonic	RCN1	NA	nonsynonymous SNV	RCN1:ENST00000054950.3:exon5:c.G784T:p.G262W,RCN1:ENST00000532942.5:exon5:c.G631T:p.G211W
EGBC2	chr11	32428585	32428585	G	T	WT1	Missense_Mutation	NM_000378	exon2	c.C696A	p.S232R	SNP	all_mutianno	exonic	WT1	NA	nonsynonymous SNV	WT1:NM_000378:exon2:c.C696A:p.S232R,WT1:NM_001198551:exon2:c.C45A:p.S15R,WT1:NM_001198552:exon2:c.C45A:p.S15R,WT1:NM_024424:exon2:c.C696A:p.S232R,WT1:NM_024426:exon2:c.C696A:p.S232R	exonic	WT1	NA	nonsynonymous SNV	WT1:ENST00000530998.5:exon2:c.C45A:p.S15R
EGBC2	chr11	55820168	55820168	G	C	OR5D18	Missense_Mutation	NM_001001952	exon1	c.G539C	p.C180S	SNP	all_mutianno	exonic	OR5D18	NA	nonsynonymous SNV	OR5D18:NM_001001952:exon1:c.G539C:p.C180S	exonic	OR5D18	NA	unknown	UNKNOWN
EGBC2	chr11	56177381	56177381	T	A	OR5J2	Nonsense_Mutation	NM_001005492	exon1	c.T764A	p.L255X	SNP	all_mutianno	exonic	OR5J2	NA	stopgain	OR5J2:NM_001005492:exon1:c.T764A:p.L255X	exonic	OR5J2	NA	stopgain	OR5J2:ENST00000312298.1:exon1:c.T764A:p.L255X
EGBC2	chr11	58191362	58191362	G	T	OR9Q2	Missense_Mutation	NM_001005283	exon1	c.G872T	p.S291I	SNP	all_mutianno	exonic	OR9Q2	NA	nonsynonymous SNV	OR9Q2:NM_001005283:exon1:c.G872T:p.S291I	exonic	OR9Q2	NA	nonsynonymous SNV	OR9Q2:ENST00000311591.3:exon1:c.G872T:p.S291I
EGBC2	chr11	65953653	65953653	G	A	TSGA10IP	Missense_Mutation	NM_152762	exon5	c.G1238A	p.R413Q	SNP	all_mutianno	exonic	TSGA10IP	NA	nonsynonymous SNV	TSGA10IP:NM_152762:exon5:c.G1238A:p.R413Q	exonic	TSGA10IP	NA	nonsynonymous SNV	TSGA10IP:ENST00000532620.5:exon5:c.G1238A:p.R413Q
EGBC2	chr11	77040696	77040696	G	A	B3GNT6	Missense_Mutation	NM_138706	exon2	c.G1145A	p.R382Q	SNP	all_mutianno	exonic	B3GNT6	NA	nonsynonymous SNV	B3GNT6:NM_138706:exon2:c.G1145A:p.R382Q	exonic	B3GNT6	NA	nonsynonymous SNV	B3GNT6:ENST00000622824.1:exon2:c.G1145A:p.R382Q
EGBC2	chr11	90086364	90086364	A	G	UBTFL1	Missense_Mutation	NM_001143975	exon1	c.A415G	p.R139G	SNP	all_mutianno	exonic	UBTFL1	NA	nonsynonymous SNV	UBTFL1:NM_001143975:exon1:c.A415G:p.R139G	exonic	UBTFL1	NA	nonsynonymous SNV	UBTFL1:ENST00000530464.2:exon1:c.A415G:p.R139G
EGBC2	chr11	118339492	118339492	C	G	CD3D	Missense_Mutation	NM_001040651	exon3	c.G277C	p.A93P	SNP	all_mutianno	exonic	CD3D	NA	nonsynonymous SNV	CD3D:NM_001040651:exon3:c.G277C:p.A93P,CD3D:NM_000732:exon4:c.G409C:p.A137P	exonic	CD3D	NA	nonsynonymous SNV	CD3D:ENST00000392884.2:exon3:c.G277C:p.A93P,CD3D:ENST00000529594.5:exon3:c.G190C:p.A64P,CD3D:ENST00000300692.8:exon4:c.G409C:p.A137P
EGBC2	chr12	354161	354161	T	A	KDM5A	Missense_Mutation	NM_001042603	exon8	c.A944T	p.D315V	SNP	all_mutianno	exonic	KDM5A	NA	nonsynonymous SNV	KDM5A:NM_001042603:exon8:c.A944T:p.D315V	exonic	KDM5A	NA	nonsynonymous SNV	KDM5A:ENST00000399788.6:exon8:c.A944T:p.D315V
EGBC2	chr12	26419080	26419080	A	C	ITPR2	Missense_Mutation	NM_002223	exon50	c.T7079G	p.L2360R	SNP	all_mutianno	exonic	ITPR2	NA	nonsynonymous SNV	ITPR2:NM_002223:exon50:c.T7079G:p.L2360R	exonic	ITPR2	NA	unknown	UNKNOWN
EGBC2	chr12	40283881	40283881	G	T	LRRK2	Nonsense_Mutation	NM_198578	exon19	c.G2248T	p.E750X	SNP	all_mutianno	exonic	LRRK2	NA	stopgain	LRRK2:NM_198578:exon19:c.G2248T:p.E750X	exonic	LRRK2	NA	stopgain	LRRK2:ENST00000343742.6:exon19:c.G2248T:p.E750X
EGBC2	chr12	49796053	49796053	C	T	NCKAP5L	Missense_Mutation	NM_001037806	exon8	c.G1807A	p.V603I	SNP	all_mutianno	exonic	NCKAP5L	NA	nonsynonymous SNV	NCKAP5L:NM_001037806:exon8:c.G1807A:p.V603I,NCKAP5L:NM_001368048:exon9:c.G1807A:p.V603I	exonic	NCKAP5L	NA	unknown	UNKNOWN
EGBC2	chr12	51891115	51891115	G	T	ANKRD33	Missense_Mutation	NM_182608	exon5	c.G1169T	p.R390M	SNP	all_mutianno	exonic	ANKRD33	NA	nonsynonymous SNV	ANKRD33:NM_182608:exon5:c.G1169T:p.R390M,ANKRD33:NM_001304459:exon6:c.G857T:p.R286M	exonic	ANKRD33	NA	unknown	UNKNOWN
EGBC2	chr12	53289211	53289211	C	A	ESPL1	Missense_Mutation	NM_012291	exon21	c.C4830A	p.H1610Q	SNP	all_mutianno	exonic	ESPL1	NA	nonsynonymous SNV	ESPL1:NM_012291:exon21:c.C4830A:p.H1610Q	exonic	ESPL1	NA	nonsynonymous SNV	ESPL1:ENST00000257934.8:exon21:c.C4830A:p.H1610Q,ESPL1:ENST00000552462.1:exon21:c.C4830A:p.H1610Q
EGBC2	chr12	56488037	56488037	G	A	GLS2	Missense_Mutation	NM_013267	exon1	c.C82T	p.R28W	SNP	all_mutianno	exonic	GLS2	NA	nonsynonymous SNV	GLS2:NM_013267:exon1:c.C82T:p.R28W	exonic	GLS2	NA	unknown	UNKNOWN
EGBC2	chr12	77968699	77968699	C	G	NAV3	Missense_Mutation	NM_001024383	exon5	c.C668G	p.S223C	SNP	all_mutianno	exonic	NAV3	NA	nonsynonymous SNV	NAV3:NM_001024383:exon5:c.C668G:p.S223C,NAV3:NM_014903:exon5:c.C668G:p.S223C	exonic	NAV3	NA	nonsynonymous SNV	NAV3:ENST00000536525.6:exon5:c.C668G:p.S223C
EGBC2	chr12	102164499	102164499	A	T	PARPBP	Missense_Mutation	NM_001382735	exon3	c.A215T	p.N72I	SNP	all_mutianno	exonic	PARPBP	NA	nonsynonymous SNV	PARPBP:NM_001382735:exon3:c.A215T:p.N72I,PARPBP:NM_001382722:exon4:c.A323T:p.N108I,PARPBP:NM_001382726:exon4:c.A323T:p.N108I,PARPBP:NM_001319994:exon5:c.A314T:p.N105I,PARPBP:NM_001382723:exon5:c.A557T:p.N186I,PARPBP:NM_001382724:exon5:c.A557T:p.N186I,PARPBP:NM_001382725:exon5:c.A557T:p.N186I,PARPBP:NM_001382728:exon5:c.A314T:p.N105I,PARPBP:NM_001382729:exon5:c.A557T:p.N186I,PARPBP:NM_001382731:exon5:c.A557T:p.N186I,PARPBP:NM_001382732:exon5:c.A557T:p.N186I,PARPBP:NM_017915:exon5:c.A557T:p.N186I,PARPBP:NM_001319988:exon6:c.A788T:p.N263I,PARPBP:NM_001319993:exon6:c.A314T:p.N105I,PARPBP:NM_001319995:exon6:c.A314T:p.N105I	exonic	PARPBP	NA	nonsynonymous SNV	PARPBP:ENST00000543784.5:exon3:c.A215T:p.N72I,PARPBP:ENST00000327680.6:exon5:c.A557T:p.N186I,PARPBP:ENST00000392911.6:exon5:c.A314T:p.N105I,PARPBP:ENST00000541394.5:exon6:c.A788T:p.N263I
EGBC2	chr12	106067274	106067275	CT	C	NUAK1	Frame_Shift_Del	NM_014840	exon7	c.1513delA	p.S505Afs*8	DEL	all_mutianno	exonic	NUAK1	NA	frameshift deletion	NUAK1:NM_014840:exon7:c.1513delA:p.S505Afs*8	exonic	NUAK1	NA	frameshift deletion	NUAK1:ENST00000261402.6:exon7:c.1513delA:p.S505Afs*8
EGBC2	chr12	119145624	119145624	C	A	SRRM4	Missense_Mutation	NM_194286	exon9	c.C1015A	p.P339T	SNP	all_mutianno	exonic	SRRM4	NA	nonsynonymous SNV	SRRM4:NM_194286:exon9:c.C1015A:p.P339T	exonic	SRRM4	NA	unknown	UNKNOWN
EGBC2	chr12	121971610	121971610	T	G	CFAP251	Nonstop_Mutation	NM_001178003	exon18	c.T2824G	p.X942E	SNP	all_mutianno	exonic	CFAP251	NA	stoploss	CFAP251:NM_001178003:exon18:c.T2824G:p.X942E	exonic	WDR66	NA	stoploss	WDR66:ENST00000397454.2:exon18:c.T2824G:p.X942E
EGBC2	chr12	129209543	129209543	A	G	TMEM132D	Missense_Mutation	NM_133448	exon5	c.T1420C	p.S474P	SNP	all_mutianno	exonic	TMEM132D	NA	nonsynonymous SNV	TMEM132D:NM_133448:exon5:c.T1420C:p.S474P	exonic	TMEM132D	NA	unknown	UNKNOWN
EGBC2	chr12	130164014	130164014	G	T	FZD10	Missense_Mutation	NM_007197	exon1	c.G1072T	p.A358S	SNP	all_mutianno	exonic	FZD10	NA	nonsynonymous SNV	FZD10:NM_007197:exon1:c.G1072T:p.A358S	exonic	FZD10	NA	nonsynonymous SNV	FZD10:ENST00000229030.4:exon1:c.G1072T:p.A358S,FZD10:ENST00000539839.1:exon1:c.G974T:p.S325I
EGBC2	chr12	130451218	130451218	C	A	RIMBP2	Missense_Mutation	NM_015347	exon6	c.G430T	p.A144S	SNP	all_mutianno	exonic	RIMBP2	NA	nonsynonymous SNV	RIMBP2:NM_015347:exon6:c.G430T:p.A144S,RIMBP2:NM_001351227:exon7:c.G481T:p.A161S,RIMBP2:NM_001351226:exon8:c.G481T:p.A161S,RIMBP2:NM_001351228:exon8:c.G481T:p.A161S,RIMBP2:NM_001351229:exon8:c.G481T:p.A161S,RIMBP2:NM_001351230:exon8:c.G481T:p.A161S,RIMBP2:NM_001351231:exon8:c.G481T:p.A161S,RIMBP2:NM_001351232:exon8:c.G481T:p.A161S,RIMBP2:NM_001351233:exon9:c.G154T:p.A52S	exonic	RIMBP2	NA	nonsynonymous SNV	RIMBP2:ENST00000261655.8:exon5:c.G430T:p.A144S
EGBC2	chr12	132816744	132816745	GA	G	GOLGA3	Frame_Shift_Del	NM_001172557	exon3	c.201delT	p.Q68Rfs*37	DEL	all_mutianno	exonic	GOLGA3	NA	frameshift deletion	GOLGA3:NM_001172557:exon3:c.201delT:p.Q68Rfs*37,GOLGA3:NM_005895:exon3:c.201delT:p.Q68Rfs*37	exonic	GOLGA3	NA	frameshift deletion	GOLGA3:ENST00000456883.6:exon3:c.201delT:p.Q68Rfs*37,GOLGA3:ENST00000545875.4:exon3:c.201delT:p.Q68Rfs*37
EGBC2	chr12	133010649	133010649	C	T	ZNF26	Missense_Mutation	NM_001256280	exon3	c.C674T	p.P225L	SNP	all_mutianno	exonic	ZNF26	NA	nonsynonymous SNV	ZNF26:NM_001256280:exon3:c.C674T:p.P225L,ZNF26:NM_019591:exon4:c.C770T:p.P257L,ZNF26:NM_001256279:exon5:c.C869T:p.P290L,ZNF26:NM_001330513:exon5:c.C710T:p.P237L,ZNF26:NM_001330514:exon5:c.C710T:p.P237L	exonic	ZNF26	NA	nonsynonymous SNV	ZNF26:ENST00000534834.1:exon3:c.C710T:p.P237L
EGBC2	chr13	46227973	46227973	G	T	LRRC63	Nonsense_Mutation	NM_001282460	exon3	c.G547T	p.E183X	SNP	all_mutianno	exonic	LRRC63	NA	stopgain	LRRC63:NM_001282460:exon3:c.G547T:p.E183X	exonic	LRRC63	NA	stopgain	LRRC63:ENST00000595396.1:exon2:c.G547T:p.E183X,LRRC63:ENST00000446175.5:exon3:c.G547T:p.E183X
EGBC2	chr13	49480967	49480967	T	C	SETDB2	Missense_Mutation	NM_001160308	exon8	c.T1007C	p.L336S	SNP	all_mutianno	exonic	SETDB2;SETDB2-PHF11	NA	nonsynonymous SNV	SETDB2:NM_001160308:exon8:c.T1007C:p.L336S,SETDB2:NM_001320699:exon8:c.T1007C:p.L336S,SETDB2-PHF11:NM_001320727:exon8:c.T1007C:p.L336S,SETDB2:NM_031915:exon9:c.T1043C:p.L348S	exonic	SETDB2	NA	nonsynonymous SNV	SETDB2:ENST00000317257.12:exon7:c.T1007C:p.L336S,SETDB2:ENST00000258672.9:exon8:c.T1007C:p.L336S,SETDB2:ENST00000354234.8:exon9:c.T1043C:p.L348S,SETDB2:ENST00000611815.1:exon9:c.T1043C:p.L348S
EGBC2	chr13	52665730	52665730	A	T	SUGT1	Missense_Mutation	NM_006704	exon9	c.A516T	p.K172N	SNP	all_mutianno	exonic	SUGT1	NA	nonsynonymous SNV	SUGT1:NM_006704:exon9:c.A516T:p.K172N,SUGT1:NM_001130912:exon10:c.A612T:p.K204N,SUGT1:NM_001320831:exon10:c.A348T:p.K116N	exonic	SUGT1	NA	nonsynonymous SNV	SUGT1:ENST00000310528.8:exon9:c.A516T:p.K172N,SUGT1:ENST00000343788.10:exon10:c.A612T:p.K204N
EGBC2	chr13	67227849	67227849	C	A	PCDH9	Nonsense_Mutation	NM_001318372	exon2	c.G592T	p.G198X	SNP	all_mutianno	exonic	PCDH9	NA	stopgain	PCDH9:NM_001318372:exon2:c.G592T:p.G198X,PCDH9:NM_001318373:exon2:c.G592T:p.G198X,PCDH9:NM_001318374:exon2:c.G592T:p.G198X,PCDH9:NM_020403:exon2:c.G592T:p.G198X,PCDH9:NM_203487:exon2:c.G592T:p.G198X	exonic	PCDH9	NA	stopgain	PCDH9:ENST00000377861.4:exon2:c.G592T:p.G198X,PCDH9:ENST00000456367.5:exon2:c.G592T:p.G198X,PCDH9:ENST00000544246.5:exon2:c.G592T:p.G198X
EGBC2	chr13	71559888	71559888	G	T	DACH1	Missense_Mutation	NM_080759	exon5	c.C1367A	p.P456Q	SNP	all_mutianno	exonic	DACH1	NA	nonsynonymous SNV	DACH1:NM_080759:exon5:c.C1367A:p.P456Q,DACH1:NM_001366712:exon6:c.C1523A:p.P508Q	exonic	DACH1	NA	nonsynonymous SNV	DACH1:ENST00000619232.1:exon6:c.C1523A:p.P508Q
EGBC2	chr13	77081542	77081542	A	C	MYCBP2	Missense_Mutation	NM_015057	exon65	c.T11303G	p.F3768C	SNP	all_mutianno	exonic	MYCBP2	NA	nonsynonymous SNV	MYCBP2:NM_015057:exon65:c.T11303G:p.F3768C	exonic	MYCBP2	NA	nonsynonymous SNV	MYCBP2:ENST00000357337.10:exon66:c.T11189G:p.F3730C
EGBC2	chr13	94577395	94577395	T	C	TGDS	Missense_Mutation	NM_001304430	exon10	c.A764G	p.N255S	SNP	all_mutianno	exonic	TGDS	NA	nonsynonymous SNV	TGDS:NM_001304430:exon10:c.A764G:p.N255S,TGDS:NM_014305:exon10:c.A860G:p.N287S	exonic	TGDS	NA	unknown	UNKNOWN
EGBC2	chr13	108210589	108210589	T	A	LIG4	Missense_Mutation	NM_001098268	exon2	c.A680T	p.Q227L	SNP	all_mutianno	exonic	LIG4	NA	nonsynonymous SNV	LIG4:NM_001098268:exon2:c.A680T:p.Q227L,LIG4:NM_002312:exon2:c.A680T:p.Q227L,LIG4:NM_001330595:exon3:c.A479T:p.Q160L,LIG4:NM_001352601:exon3:c.A680T:p.Q227L,LIG4:NM_001352602:exon3:c.A680T:p.Q227L,LIG4:NM_001352603:exon3:c.A680T:p.Q227L,LIG4:NM_001352604:exon3:c.A716T:p.Q239L,LIG4:NM_001379095:exon3:c.A680T:p.Q227L,LIG4:NM_206937:exon3:c.A680T:p.Q227L,LIG4:NM_001352598:exon4:c.A680T:p.Q227L,LIG4:NM_001352599:exon4:c.A680T:p.Q227L,LIG4:NM_001352600:exon4:c.A680T:p.Q227L	exonic	LIG4	NA	nonsynonymous SNV	LIG4:ENST00000356922.5:exon2:c.A680T:p.Q227L,LIG4:ENST00000405925.2:exon2:c.A680T:p.Q227L,LIG4:ENST00000442234.5:exon3:c.A680T:p.Q227L,LIG4:ENST00000611712.4:exon3:c.A680T:p.Q227L,LIG4:ENST00000614526.1:exon3:c.A479T:p.Q160L
EGBC2	chr14	19935670	19935670	G	C	OR4K1	Missense_Mutation	NM_001004063	exon1	c.G4C	p.A2P	SNP	all_mutianno	exonic	OR4K1	NA	nonsynonymous SNV	OR4K1:NM_001004063:exon1:c.G4C:p.A2P	exonic	OR4K1	NA	nonsynonymous SNV	OR4K1:ENST00000285600.4:exon1:c.G4C:p.A2P
EGBC2	chr14	35053403	35053403	C	A	FAM177A1	Missense_Mutation	NM_173607	exon2	c.C291A	p.D97E	SNP	all_mutianno	exonic	FAM177A1	NA	nonsynonymous SNV	FAM177A1:NM_173607:exon2:c.C291A:p.D97E,FAM177A1:NM_001289022:exon3:c.C222A:p.D74E,FAM177A1:NM_001079519:exon4:c.C222A:p.D74E	exonic	FAM177A1	NA	nonsynonymous SNV	FAM177A1:ENST00000280987.8:exon2:c.C291A:p.D97E,FAM177A1:ENST00000382406.7:exon3:c.C222A:p.D74E,FAM177A1:ENST00000396472.5:exon4:c.C222A:p.D74E
EGBC2	chr14	44505647	44505647	C	G	FSCB	Missense_Mutation	NM_032135	exon1	c.G1341C	p.E447D	SNP	all_mutianno	exonic	FSCB	NA	nonsynonymous SNV	FSCB:NM_032135:exon1:c.G1341C:p.E447D	exonic	FSCB	NA	nonsynonymous SNV	FSCB:ENST00000340446.4:exon1:c.G1341C:p.E447D
EGBC2	chr14	76154667	76154667	G	A	GPATCH2L	Missense_Mutation	NM_017972	exon1	c.G304A	p.A102T	SNP	all_mutianno	exonic	GPATCH2L	NA	nonsynonymous SNV	GPATCH2L:NM_017972:exon1:c.G304A:p.A102T,GPATCH2L:NM_001322026:exon2:c.G304A:p.A102T,GPATCH2L:NM_001322027:exon2:c.G304A:p.A102T,GPATCH2L:NM_001322028:exon2:c.G304A:p.A102T,GPATCH2L:NM_001322029:exon2:c.G304A:p.A102T,GPATCH2L:NM_001322030:exon2:c.G304A:p.A102T,GPATCH2L:NM_001322031:exon2:c.G304A:p.A102T,GPATCH2L:NM_001322032:exon2:c.G304A:p.A102T,GPATCH2L:NM_017926:exon2:c.G304A:p.A102T	exonic	GPATCH2L	NA	nonsynonymous SNV	GPATCH2L:ENST00000556663.5:exon1:c.G304A:p.A102T,GPATCH2L:ENST00000621494.1:exon1:c.G304A:p.A102T,GPATCH2L:ENST00000261530.11:exon2:c.G304A:p.A102T,GPATCH2L:ENST00000312858.9:exon2:c.G304A:p.A102T,GPATCH2L:ENST00000557263.5:exon2:c.G304A:p.A102T
EGBC2	chr14	88618674	88618674	G	C	EML5	Missense_Mutation	NM_001385116	exon39	c.C5505G	p.F1835L	SNP	all_mutianno	exonic	EML5	NA	nonsynonymous SNV	EML5:NM_001385116:exon39:c.C5505G:p.F1835L,EML5:NM_183387:exon39:c.C5514G:p.F1838L	exonic	EML5	NA	nonsynonymous SNV	EML5:ENST00000380664.9:exon38:c.C5490G:p.F1830L,EML5:ENST00000554922.5:exon40:c.C5514G:p.F1838L
EGBC2	chr15	34754445	34754445	A	G	GJD2	Missense_Mutation	NM_020660	exon1	c.T44C	p.V15A	SNP	all_mutianno	exonic	GJD2	NA	nonsynonymous SNV	GJD2:NM_020660:exon1:c.T44C:p.V15A	exonic	GJD2	NA	unknown	UNKNOWN
EGBC2	chr15	40370298	40370298	A	G	DISP2	Missense_Mutation	NM_033510	exon8	c.A4186G	p.T1396A	SNP	all_mutianno	exonic	DISP2	NA	nonsynonymous SNV	DISP2:NM_033510:exon8:c.A4186G:p.T1396A	exonic	DISP2	NA	unknown	UNKNOWN
EGBC2	chr15	47768614	47768614	T	C	SEMA6D	Missense_Mutation	NM_153619	exon17	c.T1742C	p.M581T	SNP	all_mutianno	exonic	SEMA6D	NA	nonsynonymous SNV	SEMA6D:NM_153619:exon17:c.T1742C:p.M581T,SEMA6D:NM_001358351:exon18:c.T1799C:p.M600T,SEMA6D:NM_001358352:exon18:c.T1838C:p.M613T,SEMA6D:NM_153618:exon18:c.T1799C:p.M600T	exonic	SEMA6D	NA	nonsynonymous SNV	SEMA6D:ENST00000355997.7:exon17:c.T1742C:p.M581T,SEMA6D:ENST00000558816.5:exon17:c.T1742C:p.M581T,SEMA6D:ENST00000316364.9:exon18:c.T1799C:p.M600T,SEMA6D:ENST00000536845.6:exon18:c.T1799C:p.M600T
EGBC2	chr15	48208054	48208054	T	A	SLC12A1	Missense_Mutation	NM_000338	exon2	c.T335A	p.I112K	SNP	all_mutianno	exonic	SLC12A1	NA	nonsynonymous SNV	SLC12A1:NM_000338:exon2:c.T335A:p.I112K,SLC12A1:NM_001184832:exon2:c.T335A:p.I112K,SLC12A1:NM_001384136:exon2:c.T335A:p.I112K	exonic	SLC12A1	NA	nonsynonymous SNV	SLC12A1:ENST00000330289.10:exon1:c.T335A:p.I112K,SLC12A1:ENST00000561031.1:exon1:c.T335A:p.I112K,SLC12A1:ENST00000380993.7:exon2:c.T335A:p.I112K,SLC12A1:ENST00000396577.7:exon2:c.T335A:p.I112K
EGBC2	chr15	54012911	54012911	C	A	UNC13C	Missense_Mutation	NM_001080534	exon2	c.C8A	p.A3D	SNP	all_mutianno	exonic	UNC13C	NA	nonsynonymous SNV	UNC13C:NM_001080534:exon2:c.C8A:p.A3D,UNC13C:NM_001329919:exon2:c.C8A:p.A3D	exonic	UNC13C	NA	nonsynonymous SNV	UNC13C:ENST00000260323.15:exon1:c.C8A:p.A3D
EGBC2	chr15	54500880	54500880	G	A	UNC13C	Missense_Mutation	NM_001080534	exon21	c.G5203A	p.D1735N	SNP	all_mutianno	exonic	UNC13C	NA	nonsynonymous SNV	UNC13C:NM_001080534:exon21:c.G5203A:p.D1735N,UNC13C:NM_001329919:exon21:c.G5197A:p.D1733N	exonic	UNC13C	NA	nonsynonymous SNV	UNC13C:ENST00000260323.15:exon21:c.G5203A:p.D1735N
EGBC2	chr15	60511574	60511574	C	A	RORA	Missense_Mutation	NM_134262	exon4	c.G307T	p.A103S	SNP	all_mutianno	exonic	RORA	NA	nonsynonymous SNV	RORA:NM_134262:exon4:c.G307T:p.A103S,RORA:NM_002943:exon5:c.G547T:p.A183S,RORA:NM_134261:exon5:c.G472T:p.A158S,RORA:NM_134260:exon6:c.G571T:p.A191S	exonic	RORA	NA	nonsynonymous SNV	RORA:ENST00000449337.6:exon4:c.G307T:p.A103S,RORA:ENST00000309157.8:exon5:c.G547T:p.A183S,RORA:ENST00000261523.9:exon6:c.G571T:p.A191S
EGBC2	chr15	71898468	71898468	C	A	MYO9A	Missense_Mutation	NM_006901	exon25	c.G4035T	p.E1345D	SNP	all_mutianno	exonic	MYO9A	NA	nonsynonymous SNV	MYO9A:NM_006901:exon25:c.G4035T:p.E1345D	exonic	MYO9A	NA	nonsynonymous SNV	MYO9A:ENST00000566885.5:exon23:c.G2895T:p.E965D,MYO9A:ENST00000444904.5:exon25:c.G4035T:p.E1345D,MYO9A:ENST00000564571.5:exon25:c.G4035T:p.E1345D
EGBC2	chr15	77458450	77458450	G	T	HMG20A	Missense_Mutation	NM_001304504	exon2	c.G43T	p.A15S	SNP	all_mutianno	exonic	HMG20A	NA	nonsynonymous SNV	HMG20A:NM_001304504:exon2:c.G43T:p.A15S,HMG20A:NM_018200:exon3:c.G43T:p.A15S	exonic	HMG20A	NA	nonsynonymous SNV	HMG20A:ENST00000381714.7:exon3:c.G43T:p.A15S
EGBC2	chr15	89599354	89599354	A	G	TICRR	Missense_Mutation	NM_001308025	exon8	c.A1928G	p.Y643C	SNP	all_mutianno	exonic	TICRR	NA	nonsynonymous SNV	TICRR:NM_001308025:exon8:c.A1928G:p.Y643C,TICRR:NM_152259:exon8:c.A1931G:p.Y644C	exonic	TICRR	NA	nonsynonymous SNV	TICRR:ENST00000268138.11:exon8:c.A1931G:p.Y644C,TICRR:ENST00000560985.5:exon8:c.A1928G:p.Y643C
EGBC2	chr15	89624713	89624713	G	T	TICRR	Missense_Mutation	NM_001308025	exon20	c.G4400T	p.S1467I	SNP	all_mutianno	exonic	TICRR	NA	nonsynonymous SNV	TICRR:NM_001308025:exon20:c.G4400T:p.S1467I,TICRR:NM_152259:exon20:c.G4403T:p.S1468I	exonic	TICRR	NA	nonsynonymous SNV	TICRR:ENST00000268138.11:exon20:c.G4403T:p.S1468I,TICRR:ENST00000560985.5:exon20:c.G4400T:p.S1467I
EGBC2	chr16	368586	368586	C	A	MRPL28	Missense_Mutation	NM_006428	exon4	c.G491T	p.G164V	SNP	all_mutianno	exonic	MRPL28	NA	nonsynonymous SNV	MRPL28:NM_006428:exon4:c.G491T:p.G164V	exonic	MRPL28	NA	nonsynonymous SNV	MRPL28:ENST00000199706.12:exon4:c.G491T:p.G164V,MRPL28:ENST00000389675.6:exon4:c.G491T:p.G164V
EGBC2	chr16	1225236	1225236	C	G	TPSG1	Missense_Mutation	NM_012467	exon1	c.G17C	p.C6S	SNP	all_mutianno	exonic	TPSG1	NA	nonsynonymous SNV	TPSG1:NM_012467:exon1:c.G17C:p.C6S	exonic	TPSG1	NA	nonsynonymous SNV	TPSG1:ENST00000234798.4:exon1:c.G17C:p.C6S
EGBC2	chr16	11417632	11417632	C	A	LOC400499	Nonsense_Mutation	NM_001370704	exon43	c.G6592T	p.E2198X	SNP	all_mutianno	exonic	LOC400499	NA	stopgain	LOC400499:NM_001370704:exon43:c.G6592T:p.E2198X	exonic	CTD-3088G3.8	NA	unknown	UNKNOWN
EGBC2	chr16	20785055	20785055	G	T	ACSM3	Missense_Mutation	NM_005622	exon8	c.G1091T	p.W364L	SNP	all_mutianno	exonic	ACSM3	NA	nonsynonymous SNV	ACSM3:NM_005622:exon8:c.G1091T:p.W364L,ACSM3:NM_202000:exon8:c.G1091T:p.W364L	exonic	ACSM3	NA	nonsynonymous SNV	ACSM3:ENST00000440284.6:exon8:c.G1091T:p.W364L
EGBC2	chr16	21140637	21140637	C	A	DNAH3	Nonsense_Mutation	NM_017539	exon5	c.G595T	p.G199X	SNP	all_mutianno	exonic	DNAH3	NA	stopgain	DNAH3:NM_017539:exon5:c.G595T:p.G199X,DNAH3:NM_001347886:exon6:c.G508T:p.G170X	exonic	DNAH3	NA	stopgain	DNAH3:ENST00000261383.3:exon5:c.G595T:p.G199X
EGBC2	chr17	7674947	7674947	A	G	TP53	Missense_Mutation	NM_001126115	exon2	c.T188C	p.I63T	SNP	all_mutianno	exonic	TP53	NA	nonsynonymous SNV	TP53:NM_001126115:exon2:c.T188C:p.I63T,TP53:NM_001126116:exon2:c.T188C:p.I63T,TP53:NM_001126117:exon2:c.T188C:p.I63T,TP53:NM_001276697:exon2:c.T107C:p.I36T,TP53:NM_001276698:exon2:c.T107C:p.I36T,TP53:NM_001276699:exon2:c.T107C:p.I36T,TP53:NM_001126118:exon5:c.T467C:p.I156T,TP53:NM_000546:exon6:c.T584C:p.I195T,TP53:NM_001126112:exon6:c.T584C:p.I195T,TP53:NM_001126113:exon6:c.T584C:p.I195T,TP53:NM_001126114:exon6:c.T584C:p.I195T,TP53:NM_001276695:exon6:c.T467C:p.I156T,TP53:NM_001276696:exon6:c.T467C:p.I156T,TP53:NM_001276760:exon6:c.T467C:p.I156T,TP53:NM_001276761:exon6:c.T467C:p.I156T	exonic	TP53	NA	nonsynonymous SNV	TP53:ENST00000504290.5:exon2:c.T188C:p.I63T,TP53:ENST00000504937.5:exon2:c.T188C:p.I63T,TP53:ENST00000510385.5:exon2:c.T188C:p.I63T,TP53:ENST00000610623.4:exon2:c.T107C:p.I36T,TP53:ENST00000618944.4:exon2:c.T107C:p.I36T,TP53:ENST00000619186.4:exon2:c.T107C:p.I36T,TP53:ENST00000359597.8:exon5:c.T584C:p.I195T,TP53:ENST00000413465.6:exon5:c.T584C:p.I195T,TP53:ENST00000610292.4:exon5:c.T467C:p.I156T,TP53:ENST00000269305.8:exon6:c.T584C:p.I195T,TP53:ENST00000420246.6:exon6:c.T584C:p.I195T,TP53:ENST00000445888.6:exon6:c.T584C:p.I195T,TP53:ENST00000455263.6:exon6:c.T584C:p.I195T,TP53:ENST00000610538.4:exon6:c.T467C:p.I156T,TP53:ENST00000615910.4:exon6:c.T551C:p.I184T,TP53:ENST00000617185.4:exon6:c.T584C:p.I195T,TP53:ENST00000619485.4:exon6:c.T467C:p.I156T,TP53:ENST00000620739.4:exon6:c.T467C:p.I156T,TP53:ENST00000622645.4:exon6:c.T467C:p.I156T
EGBC2	chr17	28548080	28548080	C	A	UNC119	Missense_Mutation	NM_005148	exon3	c.G356T	p.R119L	SNP	all_mutianno	exonic	UNC119	NA	nonsynonymous SNV	UNC119:NM_005148:exon3:c.G356T:p.R119L,UNC119:NM_054035:exon3:c.G356T:p.R119L,UNC119:NM_001330166:exon4:c.G71T:p.R24L	exonic	UNC119	NA	nonsynonymous SNV	UNC119:ENST00000470125.5:exon2:c.G71T:p.R24L,UNC119:ENST00000484980.5:exon2:c.G71T:p.R24L,UNC119:ENST00000301032.8:exon3:c.G356T:p.R119L,UNC119:ENST00000335765.8:exon3:c.G356T:p.R119L
EGBC2	chr17	30490175	30490175	G	T	GOSR1	Missense_Mutation	NM_001007024	exon5	c.G203T	p.R68L	SNP	all_mutianno	exonic	GOSR1	NA	nonsynonymous SNV	GOSR1:NM_001007024:exon5:c.G203T:p.R68L,GOSR1:NM_001007025:exon5:c.G392T:p.R131L,GOSR1:NM_004871:exon5:c.G398T:p.R133L	exonic	GOSR1	NA	nonsynonymous SNV	GOSR1:ENST00000225724.9:exon5:c.G398T:p.R133L,GOSR1:ENST00000451249.6:exon5:c.G392T:p.R131L,GOSR1:ENST00000467337.6:exon5:c.G203T:p.R68L,GOSR1:ENST00000581721.5:exon5:c.G398T:p.R133L
EGBC2	chr17	39225442	39225442	C	G	STAC2	Missense_Mutation	NM_198993	exon1	c.G61C	p.G21R	SNP	all_mutianno	exonic	STAC2	NA	nonsynonymous SNV	STAC2:NM_198993:exon1:c.G61C:p.G21R	exonic	STAC2	NA	unknown	UNKNOWN
EGBC2	chr17	62373849	62373849	G	T	EFCAB3	Missense_Mutation	NM_001144933	exon2	c.G70T	p.G24C	SNP	all_mutianno	exonic	EFCAB3	NA	nonsynonymous SNV	EFCAB3:NM_001144933:exon2:c.G70T:p.G24C	exonic	EFCAB3	NA	nonsynonymous SNV	EFCAB3:ENST00000450662.7:exon2:c.G70T:p.G24C
EGBC2	chr17	62672063	62672063	G	T	MRC2	Missense_Mutation	NM_006039	exon8	c.G1372T	p.G458W	SNP	all_mutianno	exonic	MRC2	NA	nonsynonymous SNV	MRC2:NM_006039:exon8:c.G1372T:p.G458W	exonic	MRC2	NA	unknown	UNKNOWN
EGBC2	chr17	63818384	63818384	C	T	DDX42	Nonsense_Mutation	NM_203499	exon18	c.C2803T	p.R935X	SNP	all_mutianno	exonic	DDX42	NA	stopgain	DDX42:NM_203499:exon18:c.C2803T:p.R935X,DDX42:NM_007372:exon19:c.C2803T:p.R935X	exonic	DDX42	NA	stopgain	DDX42:ENST00000359353.9:exon17:c.C2446T:p.R816X,DDX42:ENST00000578681.5:exon19:c.C2803T:p.R935X,DDX42:ENST00000583590.5:exon19:c.C2803T:p.R935X
EGBC2	chr17	69035347	69035347	C	A	ABCA9	Missense_Mutation	NM_080283	exon8	c.G1027T	p.G343W	SNP	all_mutianno	exonic	ABCA9	NA	nonsynonymous SNV	ABCA9:NM_080283:exon8:c.G1027T:p.G343W	exonic	ABCA9	NA	nonsynonymous SNV	ABCA9:ENST00000453985.6:exon8:c.G1027T:p.G343W
EGBC2	chr17	75651240	75651240	T	A	RECQL5	Missense_Mutation	NM_001003715	exon8	c.A1175T	p.D392V	SNP	all_mutianno	exonic	RECQL5	NA	nonsynonymous SNV	RECQL5:NM_001003715:exon8:c.A1175T:p.D392V,RECQL5:NM_001003716:exon8:c.A1175T:p.D392V,RECQL5:NM_004259:exon8:c.A1175T:p.D392V	exonic	RECQL5	NA	nonsynonymous SNV	RECQL5:ENST00000340830.9:exon8:c.A1175T:p.D392V,RECQL5:ENST00000420326.6:exon8:c.A1175T:p.D392V,RECQL5:ENST00000423245.6:exon8:c.A1094T:p.D365V,RECQL5:ENST00000584999.1:exon8:c.A1175T:p.D392V
EGBC2	chr18	10680363	10680363	C	T	PIEZO2	Missense_Mutation	NM_022068	exon48	c.G7449A	p.M2483I	SNP	all_mutianno	exonic	PIEZO2	NA	nonsynonymous SNV	PIEZO2:NM_022068:exon48:c.G7449A:p.M2483I,PIEZO2:NM_001378183:exon52:c.G7788A:p.M2596I	exonic	PIEZO2	NA	nonsynonymous SNV	PIEZO2:ENST00000302079.10:exon47:c.G7260A:p.M2420I,PIEZO2:ENST00000503781.7:exon48:c.G7449A:p.M2483I,PIEZO2:ENST00000383408.6:exon49:c.G7302A:p.M2434I,PIEZO2:ENST00000580640.5:exon50:c.G7524A:p.M2508I
EGBC2	chr18	10759776	10759776	C	G	PIEZO2	Missense_Mutation	NM_022068	exon23	c.G3509C	p.C1170S	SNP	all_mutianno	exonic	PIEZO2	NA	nonsynonymous SNV	PIEZO2:NM_022068:exon23:c.G3509C:p.C1170S,PIEZO2:NM_001378183:exon25:c.G3584C:p.C1195S	exonic	PIEZO2	NA	nonsynonymous SNV	PIEZO2:ENST00000302079.10:exon23:c.G3509C:p.C1170S,PIEZO2:ENST00000503781.7:exon23:c.G3509C:p.C1170S,PIEZO2:ENST00000383408.6:exon24:c.G3362C:p.C1121S,PIEZO2:ENST00000580640.5:exon25:c.G3584C:p.C1195S
EGBC2	chr18	66572060	66572060	G	T	CDH19	Missense_Mutation	NM_001271028	exon2	c.C145A	p.Q49K	SNP	all_mutianno	exonic	CDH19	NA	nonsynonymous SNV	CDH19:NM_001271028:exon2:c.C145A:p.Q49K,CDH19:NM_021153:exon2:c.C145A:p.Q49K	exonic	CDH19	NA	nonsynonymous SNV	CDH19:ENST00000262150.6:exon2:c.C145A:p.Q49K,CDH19:ENST00000540086.5:exon2:c.C145A:p.Q49K
EGBC2	chr19	10395938	10395938	C	A	CDC37	Missense_Mutation	NM_007065	exon2	c.G368T	p.G123V	SNP	all_mutianno	exonic	CDC37	NA	nonsynonymous SNV	CDC37:NM_007065:exon2:c.G368T:p.G123V	exonic	CDC37	NA	unknown	UNKNOWN
EGBC2	chr19	10984279	10984280	TG	T	SMARCA4	Frame_Shift_Del	NM_001128845	exon1	c.129delG	p.S46Afs*48	DEL	all_mutianno	exonic	SMARCA4	NA	frameshift deletion	SMARCA4:NM_001128845:exon1:c.129delG:p.S46Afs*48,SMARCA4:NM_001128846:exon1:c.129delG:p.S46Afs*48,SMARCA4:NM_001128848:exon1:c.129delG:p.S46Afs*48,SMARCA4:NM_001128847:exon2:c.129delG:p.S46Afs*48,SMARCA4:NM_001128849:exon2:c.129delG:p.S46Afs*48,SMARCA4:NM_001374457:exon2:c.129delG:p.S46Afs*48,SMARCA4:NM_003072:exon2:c.129delG:p.S46Afs*48,SMARCA4:NM_001128844:exon3:c.129delG:p.S46Afs*48	exonic	SMARCA4	NA	frameshift deletion	SMARCA4:ENST00000413806.7:exon1:c.129delG:p.S46Afs*48,SMARCA4:ENST00000450717.7:exon1:c.129delG:p.S46Afs*48,SMARCA4:ENST00000541122.6:exon3:c.129delG:p.S46Afs*48,SMARCA4:ENST00000589677.5:exon3:c.129delG:p.S46Afs*48
EGBC2	chr19	11397476	11397476	T	A	RGL3	Missense_Mutation	NM_001035223	exon17	c.A1868T	p.N623I	SNP	all_mutianno	exonic	RGL3	NA	nonsynonymous SNV	RGL3:NM_001035223:exon17:c.A1868T:p.N623I,RGL3:NM_001161616:exon17:c.A1886T:p.N629I	exonic	RGL3	NA	nonsynonymous SNV	RGL3:ENST00000380456.7:exon17:c.A1868T:p.N623I,RGL3:ENST00000393423.7:exon17:c.A1886T:p.N629I
EGBC2	chr19	35861937	35861937	C	G	KIRREL2	Missense_Mutation	NM_001329530	exon10	c.C1273G	p.Q425E	SNP	all_mutianno	exonic	KIRREL2	NA	nonsynonymous SNV	KIRREL2:NM_001329530:exon10:c.C1273G:p.Q425E,KIRREL2:NM_199179:exon10:c.C1273G:p.Q425E,KIRREL2:NM_001363667:exon11:c.C1423G:p.Q475E,KIRREL2:NM_032123:exon11:c.C1423G:p.Q475E,KIRREL2:NM_199180:exon11:c.C1423G:p.Q475E	exonic	KIRREL2	NA	nonsynonymous SNV	KIRREL2:ENST00000347900.10:exon10:c.C1273G:p.Q425E,KIRREL2:ENST00000262625.7:exon11:c.C1423G:p.Q475E,KIRREL2:ENST00000360202.9:exon11:c.C1423G:p.Q475E,KIRREL2:ENST00000592409.5:exon11:c.C1423G:p.Q475E
EGBC2	chr19	47755495	47755495	G	T	NOP53	Missense_Mutation	NM_015710	exon9	c.G1201T	p.D401Y	SNP	all_mutianno	exonic	NOP53	NA	nonsynonymous SNV	NOP53:NM_015710:exon9:c.G1201T:p.D401Y	exonic	GLTSCR2	NA	unknown	UNKNOWN
EGBC2	chr19	50460052	50460052	C	A	MYBPC2	Missense_Mutation	NM_004533	exon24	c.C2804A	p.P935H	SNP	all_mutianno	exonic	MYBPC2	NA	nonsynonymous SNV	MYBPC2:NM_004533:exon24:c.C2804A:p.P935H	exonic	MYBPC2	NA	unknown	UNKNOWN
EGBC2	chr19	55513029	55513029	A	T	SSC5D	Missense_Mutation	NM_001144950	exon13	c.A2804T	p.K935M	SNP	all_mutianno	exonic	SSC5D	NA	nonsynonymous SNV	SSC5D:NM_001144950:exon13:c.A2804T:p.K935M	exonic	SSC5D	NA	unknown	UNKNOWN
EGBC2	chr20	5173553	5173553	G	A	CDS2	Missense_Mutation	NM_003818	exon2	c.G88A	p.E30K	SNP	all_mutianno	exonic	CDS2	NA	nonsynonymous SNV	CDS2:NM_003818:exon2:c.G88A:p.E30K	exonic	CDS2	NA	unknown	UNKNOWN
EGBC2	chr20	21512315	21512315	C	G	NKX2-2	Missense_Mutation	NM_002509	exon2	c.G430C	p.E144Q	SNP	all_mutianno	exonic	NKX2-2	NA	nonsynonymous SNV	NKX2-2:NM_002509:exon2:c.G430C:p.E144Q	exonic	NKX2-2	NA	nonsynonymous SNV	NKX2-2:ENST00000377142.4:exon2:c.G430C:p.E144Q
EGBC2	chr20	23605738	23605738	G	T	CST9	Missense_Mutation	NM_001008693	exon1	c.C127A	p.Q43K	SNP	all_mutianno	exonic	CST9	NA	nonsynonymous SNV	CST9:NM_001008693:exon1:c.C127A:p.Q43K	exonic	CST9	NA	nonsynonymous SNV	CST9:ENST00000376971.3:exon1:c.C127A:p.Q43K
EGBC2	chr20	41076172	41076172	G	C	TOP1	Missense_Mutation	NM_003286	exon4	c.G157C	p.E53Q	SNP	all_mutianno	exonic	TOP1	NA	nonsynonymous SNV	TOP1:NM_003286:exon4:c.G157C:p.E53Q	exonic	TOP1	NA	unknown	UNKNOWN
EGBC2	chr20	51523273	51523273	C	A	NFATC2	Missense_Mutation	NM_001136021	exon2	c.G908T	p.W303L	SNP	all_mutianno	exonic	NFATC2	NA	nonsynonymous SNV	NFATC2:NM_001136021:exon2:c.G908T:p.W303L,NFATC2:NM_001258292:exon2:c.G908T:p.W303L,NFATC2:NM_001258294:exon2:c.G311T:p.W104L,NFATC2:NM_001258295:exon2:c.G311T:p.W104L,NFATC2:NM_001258296:exon2:c.G311T:p.W104L,NFATC2:NM_001258297:exon2:c.G311T:p.W104L,NFATC2:NM_012340:exon2:c.G968T:p.W323L,NFATC2:NM_173091:exon2:c.G968T:p.W323L	exonic	NFATC2	NA	nonsynonymous SNV	NFATC2:ENST00000396009.7:exon2:c.G968T:p.W323L,NFATC2:ENST00000414705.5:exon2:c.G908T:p.W303L,NFATC2:ENST00000609507.1:exon2:c.G311T:p.W104L,NFATC2:ENST00000609943.5:exon2:c.G908T:p.W303L,NFATC2:ENST00000610033.5:exon2:c.G311T:p.W104L
EGBC2	chr20	62415802	62415802	C	G	RBBP8NL	Missense_Mutation	NM_080833	exon7	c.G530C	p.G177A	SNP	all_mutianno	exonic	RBBP8NL	NA	nonsynonymous SNV	RBBP8NL:NM_080833:exon7:c.G530C:p.G177A	exonic	RBBP8NL	NA	unknown	UNKNOWN
EGBC2	chr20	63407108	63407108	G	T	KCNQ2	Missense_Mutation	NM_004518	exon15	c.C2071A	p.Q691K	SNP	all_mutianno	exonic	KCNQ2	NA	nonsynonymous SNV	KCNQ2:NM_004518:exon15:c.C2071A:p.Q691K,KCNQ2:NM_172106:exon16:c.C2101A:p.Q701K,KCNQ2:NM_172108:exon16:c.C2062A:p.Q688K,KCNQ2:NM_001382235:exon17:c.C2209A:p.Q737K,KCNQ2:NM_172107:exon17:c.C2155A:p.Q719K	exonic	KCNQ2	NA	nonsynonymous SNV	KCNQ2:ENST00000360480.7:exon15:c.C2071A:p.Q691K,KCNQ2:ENST00000629241.2:exon15:c.C2071A:p.Q691K,KCNQ2:ENST00000637193.1:exon15:c.C1552A:p.Q518K,KCNQ2:ENST00000344462.8:exon16:c.C2062A:p.Q688K,KCNQ2:ENST00000370224.5:exon16:c.C2179A:p.Q727K,KCNQ2:ENST00000625514.2:exon16:c.C2143A:p.Q715K,KCNQ2:ENST00000626839.2:exon16:c.C2101A:p.Q701K,KCNQ2:ENST00000359125.6:exon17:c.C2155A:p.Q719K
EGBC2	chr21	34095334	34095334	A	T	SLC5A3	Missense_Mutation	NM_006933	exon2	c.A136T	p.M46L	SNP	all_mutianno	exonic	SLC5A3	NA	nonsynonymous SNV	SLC5A3:NM_006933:exon2:c.A136T:p.M46L	exonic	SLC5A3	NA	unknown	UNKNOWN
EGBC2	chr21	34614840	34614840	C	T	RCAN1	Missense_Mutation	NM_004414	exon1	c.G172A	p.E58K	SNP	all_mutianno	exonic	RCAN1	NA	nonsynonymous SNV	RCAN1:NM_004414:exon1:c.G172A:p.E58K	exonic	RCAN1	NA	unknown	UNKNOWN
EGBC2	chr21	44401710	44401710	C	T	TRPM2	Missense_Mutation	NM_001320350	exon16	c.C2351T	p.P784L	SNP	all_mutianno	exonic	TRPM2	NA	nonsynonymous SNV	TRPM2:NM_001320350:exon16:c.C2351T:p.P784L,TRPM2:NM_001320351:exon16:c.C2351T:p.P784L,TRPM2:NM_003307:exon16:c.C2351T:p.P784L	exonic	TRPM2	NA	nonsynonymous SNV	TRPM2:ENST00000397928.5:exon16:c.C2351T:p.P784L,TRPM2:ENST00000397932.6:exon16:c.C2351T:p.P784L,TRPM2:ENST00000300481.13:exon17:c.C2291T:p.P764L,TRPM2:ENST00000300482.9:exon17:c.C2351T:p.P784L
EGBC2	chr21	44681934	44681934	C	A	KRTAP12-1	Missense_Mutation	NM_181686	exon1	c.G190T	p.V64L	SNP	all_mutianno	exonic	KRTAP12-1	NA	nonsynonymous SNV	KRTAP12-1:NM_181686:exon1:c.G190T:p.V64L	exonic	KRTAP12-1	NA	nonsynonymous SNV	KRTAP12-1:ENST00000391617.1:exon1:c.G190T:p.V64L
EGBC2	chr22	16783693	16783693	G	T	XKR3	Missense_Mutation	NM_001318251	exon4	c.C1306A	p.Q436K	SNP	all_mutianno	exonic	XKR3	NA	nonsynonymous SNV	XKR3:NM_001318251:exon4:c.C1306A:p.Q436K,XKR3:NM_175878:exon4:c.C1306A:p.Q436K	exonic	XKR3	NA	nonsynonymous SNV	XKR3:ENST00000331428.5:exon4:c.C1306A:p.Q436K
EGBC2	chr22	24063092	24063092	G	T	CABIN1	Missense_Mutation	NM_001201429	exon13	c.G1680T	p.W560C	SNP	all_mutianno	exonic	CABIN1	NA	nonsynonymous SNV	CABIN1:NM_001201429:exon13:c.G1680T:p.W560C,CABIN1:NM_001199281:exon14:c.G1830T:p.W610C,CABIN1:NM_012295:exon14:c.G1830T:p.W610C	exonic	CABIN1	NA	nonsynonymous SNV	CABIN1:ENST00000405822.6:exon13:c.G1680T:p.W560C,CABIN1:ENST00000617531.4:exon13:c.G1680T:p.W560C,CABIN1:ENST00000398319.6:exon14:c.G1830T:p.W610C
EGBC2	chr22	31716868	31716868	C	A	PRR14L	Missense_Mutation	NM_173566	exon4	c.G971T	p.S324I	SNP	all_mutianno	exonic	PRR14L	NA	nonsynonymous SNV	PRR14L:NM_173566:exon4:c.G971T:p.S324I	exonic	PRR14L	NA	unknown	UNKNOWN
EGBC2	chr22	35085500	35085500	C	A	ISX	Missense_Mutation	NM_001303508	exon5	c.C545A	p.T182K	SNP	all_mutianno	exonic	ISX	NA	nonsynonymous SNV	ISX:NM_001303508:exon5:c.C545A:p.T182K	exonic	ISX	NA	nonsynonymous SNV	ISX:ENST00000308700.6:exon4:c.C545A:p.T182K,ISX:ENST00000404699.6:exon5:c.C545A:p.T182K
EGBC2	chr22	36922238	36922238	G	T	CSF2RB	Missense_Mutation	NM_000395	exon2	c.G31T	p.A11S	SNP	all_mutianno	exonic	CSF2RB	NA	nonsynonymous SNV	CSF2RB:NM_000395:exon2:c.G31T:p.A11S	exonic	CSF2RB	NA	nonsynonymous SNV	CSF2RB:ENST00000406230.5:exon1:c.G31T:p.A11S,CSF2RB:ENST00000262825.9:exon2:c.G31T:p.A11S
EGBC2	chr22	41169570	41169570	T	G	EP300	Missense_Mutation	NM_001362843	exon25	c.T4162G	p.Y1388D	SNP	all_mutianno	exonic	EP300	NA	nonsynonymous SNV	EP300:NM_001362843:exon25:c.T4162G:p.Y1388D,EP300:NM_001429:exon26:c.T4240G:p.Y1414D	exonic	EP300	NA	unknown	UNKNOWN
EGBC2	chrX	10122735	10122735	A	G	WWC3	Missense_Mutation	NM_015691	exon12	c.A1747G	p.K583E	SNP	all_mutianno	exonic	WWC3	NA	nonsynonymous SNV	WWC3:NM_015691:exon12:c.A1747G:p.K583E	exonic	WWC3	NA	nonsynonymous SNV	WWC3:ENST00000380861.8:exon12:c.A1747G:p.K583E
EGBC2	chrX	19395164	19395164	A	T	MAP3K15	Missense_Mutation	NM_001001671	exon16	c.T2111A	p.L704H	SNP	all_mutianno	exonic	MAP3K15	NA	nonsynonymous SNV	MAP3K15:NM_001001671:exon16:c.T2111A:p.L704H	exonic	MAP3K15	NA	nonsynonymous SNV	MAP3K15:ENST00000338883.8:exon16:c.T2111A:p.L704H
EGBC2	chrX	30218667	30218667	G	T	MAGEB2	Missense_Mutation	NM_002364	exon2	c.G87T	p.Q29H	SNP	all_mutianno	exonic	MAGEB2	NA	nonsynonymous SNV	MAGEB2:NM_002364:exon2:c.G87T:p.Q29H	exonic	MAGEB2	NA	unknown	UNKNOWN
EGBC2	chrX	30218668	30218668	G	T	MAGEB2	Missense_Mutation	NM_002364	exon2	c.G88T	p.V30F	SNP	all_mutianno	exonic	MAGEB2	NA	nonsynonymous SNV	MAGEB2:NM_002364:exon2:c.G88T:p.V30F	exonic	MAGEB2	NA	unknown	UNKNOWN
EGBC2	chrX	32310214	32310214	A	T	DMD	Nonsense_Mutation	NM_004011	exon14	c.T1962A	p.Y654X	SNP	all_mutianno	exonic	DMD	NA	stopgain	DMD:NM_004011:exon14:c.T1962A:p.Y654X,DMD:NM_004012:exon14:c.T1953A:p.Y651X,DMD:NM_000109:exon42:c.T5961A:p.Y1987X,DMD:NM_004006:exon42:c.T5985A:p.Y1995X,DMD:NM_004009:exon42:c.T5973A:p.Y1991X,DMD:NM_004010:exon42:c.T5616A:p.Y1872X	exonic	DMD	NA	stopgain	DMD:ENST00000357033.8:exon42:c.T5985A:p.Y1995X,DMD:ENST00000378677.6:exon42:c.T5973A:p.Y1991X,DMD:ENST00000619831.4:exon42:c.T5973A:p.Y1991X,DMD:ENST00000620040.4:exon42:c.T5985A:p.Y1995X
EGBC2	chrX	75300920	75300920	C	A	UPRT	Missense_Mutation	NM_001307944	exon6	c.C778A	p.Q260K	SNP	all_mutianno	exonic	UPRT	NA	nonsynonymous SNV	UPRT:NM_001307944:exon6:c.C778A:p.Q260K,UPRT:NM_145052:exon6:c.C778A:p.Q260K,UPRT:NM_001363821:exon9:c.C370A:p.Q124K	exonic	UPRT	NA	nonsynonymous SNV	UPRT:ENST00000373379.5:exon6:c.C778A:p.Q260K,UPRT:ENST00000530743.1:exon6:c.C370A:p.Q124K
EGBC2	chrX	78947830	78947830	C	G	P2RY10	Missense_Mutation	NM_001324221	exon2	c.C5G	p.T2R	SNP	all_mutianno	exonic	P2RY10	NA	nonsynonymous SNV	P2RY10:NM_001324221:exon2:c.C5G:p.T2R,P2RY10:NM_001324225:exon3:c.C29G:p.T10R	UTR5	P2RY10	ENST00000171757.2:c.-12691C>G	NA	NA
EGBC2	chrX	108179297	108179297	C	A	COL4A6	Missense_Mutation	NM_001287759	exon26	c.G2273T	p.G758V	SNP	all_mutianno	exonic	COL4A6	NA	nonsynonymous SNV	COL4A6:NM_001287759:exon26:c.G2273T:p.G758V,COL4A6:NM_001287760:exon26:c.G2273T:p.G758V,COL4A6:NM_001847:exon26:c.G2276T:p.G759V,COL4A6:NM_033641:exon26:c.G2273T:p.G758V,COL4A6:NM_001287758:exon27:c.G2324T:p.G775V	exonic	COL4A6	NA	nonsynonymous SNV	COL4A6:ENST00000334504.11:exon26:c.G2273T:p.G758V,COL4A6:ENST00000372216.8:exon26:c.G2276T:p.G759V,COL4A6:ENST00000538570.5:exon26:c.G2273T:p.G758V,COL4A6:ENST00000545689.2:exon26:c.G2273T:p.G758V,COL4A6:ENST00000621266.4:exon26:c.G2273T:p.G758V,COL4A6:ENST00000394872.6:exon27:c.G2324T:p.G775V
EGBC2	chrX	116461985	116461985	G	T	CT83	Nonsense_Mutation	NM_001017978	exon2	c.C98A	p.S33X	SNP	all_mutianno	exonic	CT83	NA	stopgain	CT83:NM_001017978:exon2:c.C98A:p.S33X	exonic	CT83	NA	unknown	UNKNOWN
EGBC2	chrX	128052179	128052179	G	A	ACTRT1	Missense_Mutation	NM_138289	exon1	c.C28T	p.P10S	SNP	all_mutianno	exonic	ACTRT1	NA	nonsynonymous SNV	ACTRT1:NM_138289:exon1:c.C28T:p.P10S	exonic	ACTRT1	NA	nonsynonymous SNV	ACTRT1:ENST00000371124.4:exon1:c.C28T:p.P10S
EGBC2	chrX	141908211	141908211	C	T	MAGEC1	Missense_Mutation	NM_005462	exon4	c.C2807T	p.T936M	SNP	all_mutianno	exonic	MAGEC1	NA	nonsynonymous SNV	MAGEC1:NM_005462:exon4:c.C2807T:p.T936M	exonic	MAGEC1	NA	nonsynonymous SNV	MAGEC1:ENST00000406005.2:exon4:c.C8T:p.T3M
EGBC2	chrX	145824233	145824233	G	C	SLITRK2	Missense_Mutation	NM_001144009	exon2	c.G1808C	p.S603T	SNP	all_mutianno	exonic	SLITRK2	NA	nonsynonymous SNV	SLITRK2:NM_001144009:exon2:c.G1808C:p.S603T,SLITRK2:NM_001144006:exon3:c.G1808C:p.S603T,SLITRK2:NM_001144008:exon3:c.G1808C:p.S603T,SLITRK2:NM_001144010:exon3:c.G1808C:p.S603T,SLITRK2:NM_001144003:exon5:c.G1808C:p.S603T,SLITRK2:NM_001144004:exon5:c.G1808C:p.S603T,SLITRK2:NM_001144005:exon5:c.G1808C:p.S603T,SLITRK2:NM_032539:exon5:c.G1808C:p.S603T	exonic	SLITRK2	NA	nonsynonymous SNV	SLITRK2:ENST00000370490.1:exon1:c.G1808C:p.S603T
EGBC2	chrX	149884465	149884465	C	A	MAGEA8	Missense_Mutation	NM_001166401	exon3	c.C193A	p.P65T	SNP	all_mutianno	exonic	MAGEA8	NA	nonsynonymous SNV	MAGEA8:NM_001166401:exon3:c.C193A:p.P65T,MAGEA8:NM_005364:exon3:c.C193A:p.P65T,MAGEA8:NM_001166400:exon4:c.C193A:p.P65T	exonic	MAGEA8	NA	nonsynonymous SNV	MAGEA8:ENST00000542674.5:exon3:c.C193A:p.P65T,MAGEA8:ENST00000535454.5:exon4:c.C193A:p.P65T
EGBC3	chr1	1974136	1974136	C	A	CFAP74	Missense_Mutation	NM_001304360	exon7	c.G563T	p.R188L	SNP	all_mutianno	exonic	CFAP74	NA	nonsynonymous SNV	CFAP74:NM_001304360:exon7:c.G563T:p.R188L	exonic	CFAP74	NA	nonsynonymous SNV	CFAP74:ENST00000493964.5:exon7:c.G563T:p.R188L
EGBC3	chr1	11766976	11766976	C	A	C1orf167	Nonsense_Mutation	NM_001010881	exon3	c.C1190A	p.S397X	SNP	all_mutianno	exonic	C1orf167	NA	stopgain	C1orf167:NM_001010881:exon3:c.C1190A:p.S397X	exonic	C1orf167	NA	stopgain	C1orf167:ENST00000433342.5:exon4:c.C1373A:p.S458X
EGBC3	chr1	12848033	12848033	G	T	HNRNPCL1	Missense_Mutation	NM_001013631	exon2	c.C257A	p.A86E	SNP	all_mutianno	exonic	HNRNPCL1	NA	nonsynonymous SNV	HNRNPCL1:NM_001013631:exon2:c.C257A:p.A86E	exonic	HNRNPCL1	NA	nonsynonymous SNV	HNRNPCL1:ENST00000317869.6:exon2:c.C257A:p.A86E
EGBC3	chr1	16946903	16946903	G	T	CROCC	Missense_Mutation	NM_014675	exon17	c.G2426T	p.R809L	SNP	all_mutianno	exonic	CROCC	NA	nonsynonymous SNV	CROCC:NM_014675:exon17:c.G2426T:p.R809L	exonic	CROCC	NA	unknown	UNKNOWN
EGBC3	chr1	20337813	20337813	C	A	VWA5B1	Missense_Mutation	NM_001039500	exon14	c.C2110A	p.Q704K	SNP	all_mutianno	exonic	VWA5B1	NA	nonsynonymous SNV	VWA5B1:NM_001039500:exon14:c.C2110A:p.Q704K,VWA5B1:NM_001377531:exon14:c.C1795A:p.Q599K	exonic	VWA5B1	NA	nonsynonymous SNV	VWA5B1:ENST00000289815.12:exon14:c.C2110A:p.Q704K,VWA5B1:ENST00000375079.6:exon14:c.C2110A:p.Q704K
EGBC3	chr1	22965313	22965313	T	C	LACTBL1	Missense_Mutation	NM_001289974	exon3	c.A125G	p.Y42C	SNP	all_mutianno	exonic	LACTBL1	NA	nonsynonymous SNV	LACTBL1:NM_001289974:exon3:c.A125G:p.Y42C	exonic	LACTBL1	NA	nonsynonymous SNV	LACTBL1:ENST00000426928.6:exon1:c.A26G:p.Y9C
EGBC3	chr1	24081407	24081407	G	T	MYOM3	Missense_Mutation	NM_152372	exon19	c.C2330A	p.A777D	SNP	all_mutianno	exonic	MYOM3	NA	nonsynonymous SNV	MYOM3:NM_152372:exon19:c.C2330A:p.A777D	exonic	MYOM3	NA	unknown	UNKNOWN
EGBC3	chr1	42153538	42153538	C	A	GUCA2B	Missense_Mutation	NM_007102	exon1	c.C88A	p.Q30K	SNP	all_mutianno	exonic	GUCA2B	NA	nonsynonymous SNV	GUCA2B:NM_007102:exon1:c.C88A:p.Q30K	exonic	GUCA2B	NA	unknown	UNKNOWN
EGBC3	chr1	43152861	43152861	A	G	FAM183A	Missense_Mutation	NM_001101376	exon3	c.A227G	p.Q76R	SNP	all_mutianno	exonic	FAM183A	NA	nonsynonymous SNV	FAM183A:NM_001101376:exon3:c.A227G:p.Q76R	exonic	FAM183A	NA	nonsynonymous SNV	FAM183A:ENST00000410048.5:exon3:c.A143G:p.Q48R
EGBC3	chr1	47148667	47148667	G	A	CYP4A22	Missense_Mutation	NM_001010969	exon12	c.G1430A	p.R477H	SNP	all_mutianno	exonic	CYP4A22	NA	nonsynonymous SNV	CYP4A22:NM_001010969:exon12:c.G1430A:p.R477H	exonic	CYP4A22	NA	nonsynonymous SNV	CYP4A22:ENST00000371890.7:exon10:c.G1136A:p.R379H,CYP4A22:ENST00000620131.1:exon12:c.G1433A:p.R478H
EGBC3	chr1	48742691	48742691	C	G	BEND5	Missense_Mutation	NM_001349793	exon3	c.G319C	p.A107P	SNP	all_mutianno	exonic	BEND5	NA	nonsynonymous SNV	BEND5:NM_001349793:exon3:c.G319C:p.A107P,BEND5:NM_001302082:exon4:c.G319C:p.A107P,BEND5:NM_024603:exon4:c.G826C:p.A276P,BEND5:NM_001349794:exon5:c.G319C:p.A107P,BEND5:NM_001349795:exon6:c.G571C:p.A191P	exonic	BEND5	NA	unknown	UNKNOWN
EGBC3	chr1	52688076	52688076	C	T	COA7	Missense_Mutation	NM_023077	exon3	c.G340A	p.V114I	SNP	all_mutianno	exonic	COA7	NA	nonsynonymous SNV	COA7:NM_023077:exon3:c.G340A:p.V114I	exonic	COA7	NA	unknown	UNKNOWN
EGBC3	chr1	67093090	67093090	G	T	C1orf141	Missense_Mutation	NM_001276351	exon8	c.C1118A	p.P373H	SNP	all_mutianno	exonic	C1orf141	NA	nonsynonymous SNV	C1orf141:NM_001276351:exon8:c.C1118A:p.P373H	exonic	C1orf141	NA	nonsynonymous SNV	C1orf141:ENST00000371006.5:exon6:c.C1118A:p.P373H,C1orf141:ENST00000371007.6:exon8:c.C1118A:p.P373H
EGBC3	chr1	77486319	77486319	G	T	AK5	Missense_Mutation	NM_012093	exon10	c.G1036T	p.D346Y	SNP	all_mutianno	exonic	AK5	NA	nonsynonymous SNV	AK5:NM_012093:exon10:c.G1036T:p.D346Y,AK5:NM_174858:exon10:c.G1114T:p.D372Y	exonic	AK5	NA	nonsynonymous SNV	AK5:ENST00000344720.9:exon10:c.G1036T:p.D346Y
EGBC3	chr1	99306111	99306111	A	G	PLPPR4	Missense_Mutation	NM_001166252	exon6	c.A1219G	p.I407V	SNP	all_mutianno	exonic	PLPPR4	NA	nonsynonymous SNV	PLPPR4:NM_001166252:exon6:c.A1219G:p.I407V,PLPPR4:NM_014839:exon7:c.A1249G:p.I417V	exonic	PLPPR4	NA	nonsynonymous SNV	PLPPR4:ENST00000370184.1:exon4:c.A919G:p.I307V,PLPPR4:ENST00000457765.5:exon6:c.A1219G:p.I407V,PLPPR4:ENST00000370185.7:exon7:c.A1393G:p.I465V
EGBC3	chr1	114463508	114463508	C	A	TRIM33	Nonsense_Mutation	NM_015906	exon3	c.G694T	p.E232X	SNP	all_mutianno	exonic	TRIM33	NA	stopgain	TRIM33:NM_015906:exon3:c.G694T:p.E232X,TRIM33:NM_033020:exon3:c.G694T:p.E232X	exonic	TRIM33	NA	stopgain	TRIM33:ENST00000369543.6:exon3:c.G694T:p.E232X
EGBC3	chr1	116768593	116768593	G	T	CD2	Missense_Mutation	NM_001328609	exon5	c.G944T	p.R315L	SNP	all_mutianno	exonic	CD2	NA	nonsynonymous SNV	CD2:NM_001328609:exon5:c.G944T:p.R315L,CD2:NM_001767:exon5:c.G866T:p.R289L	exonic	CD2	NA	unknown	UNKNOWN
EGBC3	chr1	145902929	145902929	C	A	ITGA10	Missense_Mutation	NM_001303041	exon4	c.G362T	p.R121L	SNP	all_mutianno	exonic	ITGA10	NA	nonsynonymous SNV	ITGA10:NM_001303041:exon4:c.G362T:p.R121L,ITGA10:NM_001303040:exon5:c.G398T:p.R133L,ITGA10:NM_003637:exon8:c.G791T:p.R264L	exonic	ITGA10	NA	nonsynonymous SNV	ITGA10:ENST00000539363.2:exon4:c.G362T:p.R121L
EGBC3	chr1	146344369	146344369	G	A	PPIAL4H	Missense_Mutation	NM_001368128	exon1	c.C347T	p.T116I	SNP	all_mutianno	exonic	PPIAL4H	NA	nonsynonymous SNV	PPIAL4H:NM_001368128:exon1:c.C347T:p.T116I	exonic	CH17-385C13.3	NA	nonsynonymous SNV	CH17-385C13.3:ENST00000584068.3:exon1:c.C347T:p.T116I
EGBC3	chr1	156161357	156161358	CG	C	SEMA4A	Frame_Shift_Del	NM_001193302	exon7	c.427delG	p.G143Afs*13	DEL	all_mutianno	exonic	SEMA4A	NA	frameshift deletion	SEMA4A:NM_001193302:exon7:c.427delG:p.G143Afs*13,SEMA4A:NM_001370567:exon8:c.823delG:p.G275Afs*13,SEMA4A:NM_001370568:exon8:c.526delG:p.G176Afs*13,SEMA4A:NM_001370569:exon8:c.316delG:p.G106Afs*13,SEMA4A:NM_001193301:exon9:c.823delG:p.G275Afs*13,SEMA4A:NM_022367:exon9:c.823delG:p.G275Afs*13,SEMA4A:NM_001193300:exon10:c.823delG:p.G275Afs*13,SEMA4A:NM_001370571:exon10:c.316delG:p.G106Afs*13	exonic	SEMA4A	NA	frameshift deletion	SEMA4A:ENST00000368284.5:exon7:c.427delG:p.G143Afs*13,SEMA4A:ENST00000368282.1:exon8:c.823delG:p.G275Afs*13,SEMA4A:ENST00000355014.6:exon9:c.823delG:p.G275Afs*13,SEMA4A:ENST00000368286.6:exon10:c.709delG:p.G237Afs*13
EGBC3	chr1	156299098	156299098	C	A	VHLL	Missense_Mutation	NM_001004319	exon1	c.G92T	p.G31V	SNP	all_mutianno	exonic	VHLL	NA	nonsynonymous SNV	VHLL:NM_001004319:exon1:c.G92T:p.G31V	exonic	VHLL	NA	nonsynonymous SNV	VHLL:ENST00000339922.4:exon1:c.G92T:p.G31V
EGBC3	chr1	156672650	156672650	C	T	NES	Missense_Mutation	NM_006617	exon4	c.G1538A	p.G513D	SNP	all_mutianno	exonic	NES	NA	nonsynonymous SNV	NES:NM_006617:exon4:c.G1538A:p.G513D	exonic	NES	NA	unknown	UNKNOWN
EGBC3	chr1	156845249	156845249	C	T	INSRR	Missense_Mutation	NM_014215	exon12	c.G2264A	p.G755D	SNP	all_mutianno	exonic	INSRR	NA	nonsynonymous SNV	INSRR:NM_014215:exon12:c.G2264A:p.G755D	exonic	INSRR	NA	unknown	UNKNOWN
EGBC3	chr1	158329869	158329869	G	T	CD1B	Missense_Mutation	NM_001764	exon3	c.C590A	p.A197E	SNP	all_mutianno	exonic	CD1B	NA	nonsynonymous SNV	CD1B:NM_001764:exon3:c.C590A:p.A197E	exonic	CD1B	NA	nonsynonymous SNV	CD1B:ENST00000368168.3:exon3:c.C590A:p.A197E
EGBC3	chr1	158480032	158480032	T	G	OR10R2	Missense_Mutation	NM_001004472	exon1	c.T155G	p.L52R	SNP	all_mutianno	exonic	OR10R2	NA	nonsynonymous SNV	OR10R2:NM_001004472:exon1:c.T155G:p.L52R	exonic	OR10R2	NA	nonsynonymous SNV	OR10R2:ENST00000368152.1:exon1:c.T155G:p.L52R
EGBC3	chr1	159713719	159713719	C	T	CRP	Missense_Mutation	NM_000567	exon2	c.G481A	p.G161S	SNP	all_mutianno	exonic	CRP	NA	nonsynonymous SNV	CRP:NM_000567:exon2:c.G481A:p.G161S,CRP:NM_001329057:exon2:c.G481A:p.G161S	exonic	CRP	NA	nonsynonymous SNV	CRP:ENST00000255030.9:exon2:c.G481A:p.G161S
EGBC3	chr1	161629887	161629887	C	A	FCGR3B	Missense_Mutation	NM_001244753	exon3	c.G210T	p.Q70H	SNP	all_mutianno	exonic	FCGR3B	NA	nonsynonymous SNV	FCGR3B:NM_001244753:exon3:c.G210T:p.Q70H,FCGR3B:NM_001271035:exon3:c.G207T:p.Q69H,FCGR3B:NM_001271036:exon3:c.G159T:p.Q53H,FCGR3B:NM_001271037:exon3:c.G159T:p.Q53H,FCGR3B:NM_000570:exon4:c.G210T:p.Q70H	exonic	FCGR3B	NA	nonsynonymous SNV	FCGR3B:ENST00000613418.4:exon3:c.G159T:p.Q53H,FCGR3B:ENST00000614870.4:exon3:c.G159T:p.Q53H,FCGR3B:ENST00000367964.6:exon4:c.G210T:p.Q70H
EGBC3	chr1	172042099	172042099	A	C	DNM3	Missense_Mutation	NM_001136127	exon8	c.A1083C	p.K361N	SNP	all_mutianno	exonic	DNM3	NA	nonsynonymous SNV	DNM3:NM_001136127:exon8:c.A1083C:p.K361N,DNM3:NM_001278252:exon8:c.A1083C:p.K361N,DNM3:NM_001350204:exon8:c.A1083C:p.K361N,DNM3:NM_001350205:exon8:c.A1083C:p.K361N,DNM3:NM_001350206:exon8:c.A1083C:p.K361N,DNM3:NM_015569:exon8:c.A1083C:p.K361N	exonic	DNM3	NA	nonsynonymous SNV	DNM3:ENST00000355305.9:exon8:c.A1083C:p.K361N,DNM3:ENST00000367731.5:exon8:c.A1083C:p.K361N,DNM3:ENST00000367733.6:exon8:c.A1083C:p.K361N,DNM3:ENST00000520906.5:exon8:c.A1083C:p.K361N
EGBC3	chr1	175079358	175079358	C	A	TNN	Missense_Mutation	NM_022093	exon3	c.C435A	p.H145Q	SNP	all_mutianno	exonic	TNN	NA	nonsynonymous SNV	TNN:NM_022093:exon3:c.C435A:p.H145Q	exonic	TNN	NA	nonsynonymous SNV	TNN:ENST00000621086.1:exon2:c.C435A:p.H145Q,TNN:ENST00000622870.4:exon2:c.C435A:p.H145Q,TNN:ENST00000239462.8:exon3:c.C435A:p.H145Q
EGBC3	chr1	176868847	176868847	G	T	ASTN1	Missense_Mutation	NM_001286164	exon22	c.C3644A	p.P1215H	SNP	all_mutianno	exonic	ASTN1	NA	nonsynonymous SNV	ASTN1:NM_001286164:exon22:c.C3644A:p.P1215H,ASTN1:NM_001364856:exon22:c.C3668A:p.P1223H,ASTN1:NM_004319:exon22:c.C3644A:p.P1215H,ASTN1:NM_207108:exon22:c.C3644A:p.P1215H	exonic	ASTN1	NA	nonsynonymous SNV	ASTN1:ENST00000367657.7:exon22:c.C3644A:p.P1215H,ASTN1:ENST00000424564.2:exon22:c.C3644A:p.P1215H
EGBC3	chr1	182600375	182600375	C	A	RGS16	Missense_Mutation	NM_002928	exon5	c.G526T	p.A176S	SNP	all_mutianno	exonic	RGS16	NA	nonsynonymous SNV	RGS16:NM_002928:exon5:c.G526T:p.A176S	exonic	RGS16	NA	unknown	UNKNOWN
EGBC3	chr1	200592144	200592144	T	G	KIF14	Missense_Mutation	NM_001305792	exon14	c.A1276C	p.I426L	SNP	all_mutianno	exonic	KIF14	NA	nonsynonymous SNV	KIF14:NM_001305792:exon14:c.A1276C:p.I426L,KIF14:NM_014875:exon16:c.A2749C:p.I917L	exonic	KIF14	NA	nonsynonymous SNV	KIF14:ENST00000614960.4:exon15:c.A2749C:p.I917L
EGBC3	chr1	202943784	202943784	G	A	ADIPOR1	Missense_Mutation	NM_001290553	exon6	c.C779T	p.T260I	SNP	all_mutianno	exonic	ADIPOR1	NA	nonsynonymous SNV	ADIPOR1:NM_001290553:exon6:c.C779T:p.T260I,ADIPOR1:NM_015999:exon6:c.C779T:p.T260I,ADIPOR1:NM_001290557:exon7:c.C779T:p.T260I,ADIPOR1:NM_001290629:exon7:c.C779T:p.T260I	exonic	ADIPOR1	NA	synonymous SNV	ADIPOR1:ENST00000367254.7:exon5:c.C510T:p.H170H
EGBC3	chr1	203063915	203063915	A	G	PPFIA4	Missense_Mutation	NM_001304332	exon24	c.A2935G	p.M979V	SNP	all_mutianno	exonic	PPFIA4	NA	nonsynonymous SNV	PPFIA4:NM_001304332:exon24:c.A2935G:p.M979V,PPFIA4:NM_001304331:exon25:c.A2962G:p.M988V	exonic	PPFIA4	NA	nonsynonymous SNV	PPFIA4:ENST00000599966.5:exon11:c.A1417G:p.M473V,PPFIA4:ENST00000272198.10:exon12:c.A1444G:p.M482V,PPFIA4:ENST00000367240.6:exon24:c.A2899G:p.M967V,PPFIA4:ENST00000295706.8:exon28:c.A1417G:p.M473V,PPFIA4:ENST00000447715.6:exon30:c.A2896G:p.M966V
EGBC3	chr1	219611542	219611542	C	A	ZC3H11B	Missense_Mutation	NM_001355457	exon2	c.G521T	p.G174V	SNP	all_mutianno	exonic	ZC3H11B	NA	nonsynonymous SNV	ZC3H11B:NM_001355457:exon2:c.G521T:p.G174V	exonic	ZC3H11B	NA	unknown	UNKNOWN
EGBC3	chr1	221702467	221702467	C	T	DUSP10	Missense_Mutation	NM_007207	exon4	c.G1394A	p.G465D	SNP	all_mutianno	exonic	DUSP10	NA	nonsynonymous SNV	DUSP10:NM_007207:exon4:c.G1394A:p.G465D	exonic	DUSP10	NA	unknown	UNKNOWN
EGBC3	chr1	222652310	222652310	G	T	MIA3	Missense_Mutation	NM_001300867	exon8	c.G698T	p.R233M	SNP	all_mutianno	exonic	MIA3	NA	nonsynonymous SNV	MIA3:NM_001300867:exon8:c.G698T:p.R233M,MIA3:NM_001324065:exon8:c.G698T:p.R233M,MIA3:NM_001324062:exon13:c.G4064T:p.R1355M,MIA3:NM_198551:exon13:c.G4064T:p.R1355M,MIA3:NM_001324064:exon14:c.G3572T:p.R1191M	exonic	MIA3	NA	nonsynonymous SNV	MIA3:ENST00000340535.11:exon8:c.G698T:p.R233M
EGBC3	chr1	225252325	225252325	G	T	DNAH14	Missense_Mutation	NM_001367479	exon44	c.G6773T	p.C2258F	SNP	all_mutianno	exonic	DNAH14	NA	nonsynonymous SNV	DNAH14:NM_001367479:exon44:c.G6773T:p.C2258F	exonic	DNAH14	NA	nonsynonymous SNV	DNAH14:ENST00000445597.6:exon31:c.G5492T:p.C1831F,DNAH14:ENST00000439375.6:exon43:c.G6755T:p.C2252F,DNAH14:ENST00000430092.5:exon44:c.G6755T:p.C2252F
EGBC3	chr1	228275996	228275996	G	A	OBSCN	Missense_Mutation	NM_001098623	exon21	c.G6190A	p.D2064N	SNP	all_mutianno	exonic	OBSCN	NA	nonsynonymous SNV	OBSCN:NM_001098623:exon21:c.G6190A:p.D2064N,OBSCN:NM_052843:exon21:c.G6190A:p.D2064N,OBSCN:NM_001271223:exon25:c.G7315A:p.D2439N	exonic	OBSCN	NA	nonsynonymous SNV	OBSCN:ENST00000636875.1:exon20:c.G6190A:p.D2064N,OBSCN:ENST00000422127.5:exon21:c.G6190A:p.D2064N,OBSCN:ENST00000366707.9:exon24:c.G7315A:p.D2439N,OBSCN:ENST00000570156.6:exon25:c.G7315A:p.D2439N
EGBC3	chr1	230704195	230704195	C	T	AGT	Missense_Mutation	NM_001382817	exon4	c.G1240A	p.E414K	SNP	all_mutianno	exonic	AGT	NA	nonsynonymous SNV	AGT:NM_001382817:exon4:c.G1240A:p.E414K,AGT:NM_001384479:exon4:c.G1240A:p.E414K	exonic	AGT	NA	unknown	UNKNOWN
EGBC3	chr1	237660836	237660836	C	G	RYR2	Missense_Mutation	NM_001035	exon56	c.C8325G	p.I2775M	SNP	all_mutianno	exonic	RYR2	NA	nonsynonymous SNV	RYR2:NM_001035:exon56:c.C8325G:p.I2775M	exonic	RYR2	NA	nonsynonymous SNV	RYR2:ENST00000360064.7:exon54:c.C8277G:p.I2759M
EGBC3	chr1	245121938	245121938	G	T	EFCAB2	Missense_Mutation	NM_001143943	exon7	c.G392T	p.R131L	SNP	all_mutianno	exonic	EFCAB2	NA	nonsynonymous SNV	EFCAB2:NM_001143943:exon7:c.G392T:p.R131L	exonic	EFCAB2	NA	nonsynonymous SNV	EFCAB2:ENST00000447569.6:exon7:c.G392T:p.R131L,EFCAB2:ENST00000366522.6:exon8:c.G800T:p.R267L
EGBC3	chr1	247896482	247896482	G	T	OR2W3	Missense_Mutation	NM_001001957	exon1	c.G896T	p.G299V	SNP	all_mutianno	exonic	OR2W3	NA	nonsynonymous SNV	OR2W3:NM_001001957:exon1:c.G896T:p.G299V	exonic	OR2W3	NA	nonsynonymous SNV	OR2W3:ENST00000360358.3:exon1:c.G896T:p.G299V
EGBC3	chr1	248323647	248323647	C	T	OR2M7	Missense_Mutation	NM_001004691	exon1	c.G922A	p.G308S	SNP	all_mutianno	exonic	OR2M7	NA	nonsynonymous SNV	OR2M7:NM_001004691:exon1:c.G922A:p.G308S	exonic	OR2M7	NA	nonsynonymous SNV	OR2M7:ENST00000317965.3:exon1:c.G922A:p.G308S
EGBC3	chr1	248349594	248349594	G	T	OR14C36	Missense_Mutation	NM_001001918	exon1	c.G820T	p.G274C	SNP	all_mutianno	exonic	OR14C36	NA	nonsynonymous SNV	OR14C36:NM_001001918:exon1:c.G820T:p.G274C	exonic	OR14C36	NA	nonsynonymous SNV	OR14C36:ENST00000317861.1:exon1:c.G820T:p.G274C
EGBC3	chr1	248917423	248917423	G	A	PGBD2	Missense_Mutation	NM_001017434	exon3	c.G86A	p.G29E	SNP	all_mutianno	exonic	PGBD2	NA	nonsynonymous SNV	PGBD2:NM_001017434:exon3:c.G86A:p.G29E,PGBD2:NM_170725:exon3:c.G839A:p.G280E	exonic	PGBD2	NA	nonsynonymous SNV	PGBD2:ENST00000355360.8:exon3:c.G86A:p.G29E
EGBC3	chr2	25981875	25981875	C	G	KIF3C	Missense_Mutation	NM_002254	exon1	c.G43C	p.A15P	SNP	all_mutianno	exonic	KIF3C	NA	nonsynonymous SNV	KIF3C:NM_002254:exon1:c.G43C:p.A15P	exonic	KIF3C	NA	nonsynonymous SNV	KIF3C:ENST00000405914.1:exon2:c.G43C:p.A15P
EGBC3	chr2	26430843	26430843	C	T	DRC1	Nonsense_Mutation	NM_145038	exon6	c.C736T	p.Q246X	SNP	all_mutianno	exonic	DRC1	NA	stopgain	DRC1:NM_145038:exon6:c.C736T:p.Q246X	exonic	DRC1	NA	unknown	UNKNOWN
EGBC3	chr2	27099702	27099702	G	C	KHK	Missense_Mutation	NM_000221	exon8	c.G849C	p.Q283H	SNP	all_mutianno	exonic	KHK	NA	nonsynonymous SNV	KHK:NM_000221:exon8:c.G849C:p.Q283H,KHK:NM_006488:exon8:c.G849C:p.Q283H	exonic	KHK	NA	nonsynonymous SNV	KHK:ENST00000260599.10:exon8:c.G849C:p.Q283H
EGBC3	chr2	27663843	27663843	G	T	SLC4A1AP	Missense_Mutation	NM_018158	exon1	c.G91T	p.D31Y	SNP	all_mutianno	exonic	SLC4A1AP	NA	nonsynonymous SNV	SLC4A1AP:NM_018158:exon1:c.G91T:p.D31Y	exonic	SLC4A1AP	NA	nonsynonymous SNV	SLC4A1AP:ENST00000326019.10:exon1:c.G91T:p.D31Y,SLC4A1AP:ENST00000613058.4:exon1:c.G91T:p.D31Y
EGBC3	chr2	28540417	28540417	G	T	PLB1	Missense_Mutation	NM_001170585	exon12	c.G783T	p.K261N	SNP	all_mutianno	exonic	PLB1	NA	nonsynonymous SNV	PLB1:NM_001170585:exon12:c.G783T:p.K261N,PLB1:NM_153021:exon12:c.G750T:p.K250N	exonic	PLB1	NA	nonsynonymous SNV	PLB1:ENST00000422425.6:exon12:c.G783T:p.K261N
EGBC3	chr2	73902450	73902450	G	T	ACTG2	Nonsense_Mutation	NM_001615	exon3	c.G217T	p.E73X	SNP	all_mutianno	exonic	ACTG2	NA	stopgain	ACTG2:NM_001615:exon3:c.G217T:p.E73X	exonic	ACTG2	NA	stopgain	ACTG2:ENST00000345517.7:exon3:c.G217T:p.E73X,ACTG2:ENST00000409918.5:exon3:c.G217T:p.E73X,ACTG2:ENST00000409624.1:exon4:c.G217T:p.E73X
EGBC3	chr2	79027904	79027905	GC	G	REG3G	Frame_Shift_Del	NM_001270040	exon4	c.294delC	p.H99Tfs*12	DEL	all_mutianno	exonic	REG3G	NA	frameshift deletion	REG3G:NM_001270040:exon4:c.294delC:p.H99Tfs*12,REG3G:NM_001008387:exon5:c.432delC:p.H145Tfs*12,REG3G:NM_198448:exon5:c.432delC:p.H145Tfs*12	exonic	REG3G	NA	frameshift deletion	REG3G:ENST00000409471.1:exon4:c.294delC:p.H99Tfs*12,REG3G:ENST00000393897.6:exon5:c.432delC:p.H145Tfs*12
EGBC3	chr2	79157607	79157607	C	A	REG3A	Missense_Mutation	NM_138938	exon4	c.G425T	p.S142I	SNP	all_mutianno	exonic	REG3A	NA	nonsynonymous SNV	REG3A:NM_138938:exon4:c.G425T:p.S142I,REG3A:NM_002580:exon5:c.G425T:p.S142I,REG3A:NM_138937:exon5:c.G425T:p.S142I	exonic	REG3A	NA	nonsynonymous SNV	REG3A:ENST00000393878.5:exon4:c.G425T:p.S142I,REG3A:ENST00000305165.2:exon5:c.G425T:p.S142I,REG3A:ENST00000409839.7:exon5:c.G425T:p.S142I
EGBC3	chr2	80303344	80303344	C	A	LRRTM1	Missense_Mutation	NM_178839	exon2	c.G476T	p.G159V	SNP	all_mutianno	exonic	LRRTM1	NA	nonsynonymous SNV	LRRTM1:NM_178839:exon2:c.G476T:p.G159V	exonic	LRRTM1	NA	nonsynonymous SNV	LRRTM1:ENST00000409148.1:exon2:c.G476T:p.G159V
EGBC3	chr2	84658362	84658362	T	G	DNAH6	Missense_Mutation	NM_001370	exon36	c.T5828G	p.I1943S	SNP	all_mutianno	exonic	DNAH6	NA	nonsynonymous SNV	DNAH6:NM_001370:exon36:c.T5828G:p.I1943S	exonic	DNAH6	NA	nonsynonymous SNV	DNAH6:ENST00000237449.10:exon35:c.T5828G:p.I1943S,DNAH6:ENST00000389394.7:exon36:c.T5828G:p.I1943S
EGBC3	chr2	105242626	105242626	C	G	GPR45	Missense_Mutation	NM_007227	exon1	c.C768G	p.S256R	SNP	all_mutianno	exonic	GPR45	NA	nonsynonymous SNV	GPR45:NM_007227:exon1:c.C768G:p.S256R	exonic	GPR45	NA	nonsynonymous SNV	GPR45:ENST00000258456.2:exon1:c.C768G:p.S256R
EGBC3	chr2	105881478	105881478	G	A	NCK2	Missense_Mutation	NM_001004720	exon3	c.G377A	p.R126Q	SNP	all_mutianno	exonic	NCK2	NA	nonsynonymous SNV	NCK2:NM_001004720:exon3:c.G377A:p.R126Q,NCK2:NM_003581:exon4:c.G377A:p.R126Q	exonic	NCK2	NA	nonsynonymous SNV	NCK2:ENST00000393349.2:exon3:c.G377A:p.R126Q
EGBC3	chr2	110641192	110641192	C	T	BUB1	Missense_Mutation	NM_001278616	exon22	c.G2737A	p.D913N	SNP	all_mutianno	exonic	BUB1	NA	nonsynonymous SNV	BUB1:NM_001278616:exon22:c.G2737A:p.D913N,BUB1:NM_001278617:exon22:c.G2626A:p.D876N,BUB1:NM_004336:exon23:c.G2797A:p.D933N	exonic	BUB1	NA	nonsynonymous SNV	BUB1:ENST00000409311.5:exon22:c.G2626A:p.D876N
EGBC3	chr2	113242107	113242107	G	T	PAX8	Missense_Mutation	NM_003466	exon6	c.C502A	p.P168T	SNP	all_mutianno	exonic	PAX8	NA	nonsynonymous SNV	PAX8:NM_003466:exon6:c.C502A:p.P168T,PAX8:NM_013952:exon6:c.C502A:p.P168T,PAX8:NM_013953:exon6:c.C502A:p.P168T,PAX8:NM_013992:exon6:c.C502A:p.P168T	exonic	PAX8	NA	nonsynonymous SNV	PAX8:ENST00000263334.9:exon6:c.C502A:p.P168T,PAX8:ENST00000263335.11:exon6:c.C502A:p.P168T,PAX8:ENST00000348715.9:exon6:c.C502A:p.P168T,PAX8:ENST00000397647.7:exon6:c.C502A:p.P168T
EGBC3	chr2	124025685	124025685	C	A	CNTNAP5	Missense_Mutation	NM_001367498	exon1	c.C35A	p.T12N	SNP	all_mutianno	exonic	CNTNAP5	NA	nonsynonymous SNV	CNTNAP5:NM_001367498:exon1:c.C35A:p.T12N,CNTNAP5:NM_130773:exon1:c.C35A:p.T12N	exonic	CNTNAP5	NA	nonsynonymous SNV	CNTNAP5:ENST00000431078.1:exon1:c.C35A:p.T12N
EGBC3	chr2	124242393	124242393	G	T	CNTNAP5	Missense_Mutation	NM_001367498	exon3	c.G381T	p.W127C	SNP	all_mutianno	exonic	CNTNAP5	NA	nonsynonymous SNV	CNTNAP5:NM_001367498:exon3:c.G381T:p.W127C,CNTNAP5:NM_130773:exon3:c.G381T:p.W127C	exonic	CNTNAP5	NA	nonsynonymous SNV	CNTNAP5:ENST00000431078.1:exon3:c.G381T:p.W127C
EGBC3	chr2	130077180	130077180	C	A	POTEF	Missense_Mutation	NM_001099771	exon16	c.G1800T	p.Q600H	SNP	all_mutianno	exonic	POTEF	NA	nonsynonymous SNV	POTEF:NM_001099771:exon16:c.G1800T:p.Q600H	exonic	POTEF	NA	nonsynonymous SNV	POTEF:ENST00000409914.6:exon16:c.G1800T:p.Q600H
EGBC3	chr2	151619714	151619714	C	A	NEB	Missense_Mutation	NM_004543	exon69	c.G9844T	p.A3282S	SNP	all_mutianno	exonic	NEB	NA	nonsynonymous SNV	NEB:NM_004543:exon69:c.G9844T:p.A3282S,NEB:NM_001164507:exon73:c.G10609T:p.A3537S,NEB:NM_001164508:exon73:c.G10609T:p.A3537S,NEB:NM_001271208:exon73:c.G10609T:p.A3537S	exonic	NEB	NA	nonsynonymous SNV	NEB:ENST00000172853.14:exon69:c.G9880T:p.A3294S,NEB:ENST00000409198.5:exon70:c.G9880T:p.A3294S,NEB:ENST00000603639.5:exon71:c.G10609T:p.A3537S,NEB:ENST00000604864.5:exon71:c.G10609T:p.A3537S,NEB:ENST00000397345.7:exon73:c.G10609T:p.A3537S,NEB:ENST00000427231.6:exon73:c.G10609T:p.A3537S,NEB:ENST00000618972.4:exon73:c.G10609T:p.A3537S
EGBC3	chr2	162356804	162356804	G	C	GCA	Missense_Mutation	NM_001330268	exon5	c.G431C	p.W144S	SNP	all_mutianno	exonic	GCA	NA	nonsynonymous SNV	GCA:NM_001330268:exon5:c.G431C:p.W144S,GCA:NM_001330270:exon5:c.G296C:p.W99S,GCA:NM_001330271:exon5:c.G296C:p.W99S,GCA:NM_012198:exon5:c.G353C:p.W118S,GCA:NM_001330265:exon6:c.G398C:p.W133S,GCA:NM_001330266:exon6:c.G398C:p.W133S,GCA:NM_001330267:exon6:c.G398C:p.W133S	exonic	GCA	NA	nonsynonymous SNV	GCA:ENST00000233612.8:exon5:c.G296C:p.W99S
EGBC3	chr2	162356805	162356805	G	C	GCA	Missense_Mutation	NM_001330268	exon5	c.G432C	p.W144C	SNP	all_mutianno	exonic	GCA	NA	nonsynonymous SNV	GCA:NM_001330268:exon5:c.G432C:p.W144C,GCA:NM_001330270:exon5:c.G297C:p.W99C,GCA:NM_001330271:exon5:c.G297C:p.W99C,GCA:NM_012198:exon5:c.G354C:p.W118C,GCA:NM_001330265:exon6:c.G399C:p.W133C,GCA:NM_001330266:exon6:c.G399C:p.W133C,GCA:NM_001330267:exon6:c.G399C:p.W133C	exonic	GCA	NA	nonsynonymous SNV	GCA:ENST00000233612.8:exon5:c.G297C:p.W99C
EGBC3	chr2	178564861	178564861	C	A	TTN	Missense_Mutation	NM_003319	exon154	c.G54076T	p.V18026L	SNP	all_mutianno	exonic	TTN	NA	nonsynonymous SNV	TTN:NM_003319:exon154:c.G54076T:p.V18026L,TTN:NM_133432:exon155:c.G54451T:p.V18151L,TTN:NM_133437:exon155:c.G54652T:p.V18218L,TTN:NM_133378:exon275:c.G73567T:p.V24523L,TTN:NM_001256850:exon276:c.G76348T:p.V25450L,TTN:NM_001267550:exon326:c.G81271T:p.V27091L	exonic	TTN	NA	nonsynonymous SNV	TTN:ENST00000342175.11:exon154:c.G54652T:p.V18218L,TTN:ENST00000359218.10:exon154:c.G54451T:p.V18151L,TTN:ENST00000460472.6:exon154:c.G54076T:p.V18026L,TTN:ENST00000342992.10:exon275:c.G73567T:p.V24523L,TTN:ENST00000615779.5:exon275:c.G76348T:p.V25450L,TTN:ENST00000591111.5:exon276:c.G76348T:p.V25450L,TTN:ENST00000589042.5:exon326:c.G81271T:p.V27091L
EGBC3	chr2	185804707	185804707	A	T	FSIP2	Missense_Mutation	NM_173651	exon17	c.A15401T	p.H5134L	SNP	all_mutianno	exonic	FSIP2	NA	nonsynonymous SNV	FSIP2:NM_173651:exon17:c.A15401T:p.H5134L	exonic	FSIP2	NA	unknown	UNKNOWN
EGBC3	chr2	213930042	213930042	G	T	SPAG16	Nonsense_Mutation	NM_024532	exon12	c.G1297T	p.E433X	SNP	all_mutianno	exonic	SPAG16	NA	stopgain	SPAG16:NM_024532:exon12:c.G1297T:p.E433X	exonic	SPAG16	NA	unknown	UNKNOWN
EGBC3	chr2	214976020	214976020	C	T	ABCA12	Missense_Mutation	NM_015657	exon26	c.G4192A	p.G1398R	SNP	all_mutianno	exonic	ABCA12	NA	nonsynonymous SNV	ABCA12:NM_015657:exon26:c.G4192A:p.G1398R,ABCA12:NM_173076:exon34:c.G5146A:p.G1716R	exonic	ABCA12	NA	nonsynonymous SNV	ABCA12:ENST00000389661.4:exon26:c.G4192A:p.G1398R
EGBC3	chr2	219541924	219541924	A	T	CHPF	Missense_Mutation	NM_001195731	exon2	c.T94A	p.W32R	SNP	all_mutianno	exonic	CHPF	NA	nonsynonymous SNV	CHPF:NM_001195731:exon2:c.T94A:p.W32R,CHPF:NM_024536:exon2:c.T580A:p.W194R	exonic	CHPF	NA	nonsynonymous SNV	CHPF:ENST00000373891.2:exon2:c.T580A:p.W194R,CHPF:ENST00000535926.2:exon2:c.T94A:p.W32R
EGBC3	chr2	224793053	224793054	CT	C	DOCK10	Frame_Shift_Del	NM_001290263	exon47	c.5213delA	p.K1738Rfs*21	DEL	all_mutianno	exonic	DOCK10	NA	frameshift deletion	DOCK10:NM_001290263:exon47:c.5213delA:p.K1738Rfs*21,DOCK10:NM_001363762:exon47:c.5270delA:p.K1757Rfs*21,DOCK10:NM_014689:exon47:c.5231delA:p.K1744Rfs*21	exonic	DOCK10	NA	frameshift deletion	DOCK10:ENST00000258390.11:exon47:c.5231delA:p.K1744Rfs*21,DOCK10:ENST00000409592.7:exon47:c.5213delA:p.K1738Rfs*21
EGBC3	chr2	229859534	229859534	C	G	TRIP12	Missense_Mutation	NM_001284215	exon3	c.G139C	p.E47Q	SNP	all_mutianno	exonic	TRIP12	NA	nonsynonymous SNV	TRIP12:NM_001284215:exon3:c.G139C:p.E47Q,TRIP12:NM_001348316:exon3:c.G139C:p.E47Q,TRIP12:NM_001348317:exon3:c.G139C:p.E47Q,TRIP12:NM_001348318:exon3:c.G139C:p.E47Q,TRIP12:NM_001348331:exon3:c.G139C:p.E47Q,TRIP12:NM_004238:exon3:c.G139C:p.E47Q,TRIP12:NM_001284214:exon4:c.G265C:p.E89Q,TRIP12:NM_001348315:exon4:c.G265C:p.E89Q,TRIP12:NM_001348319:exon4:c.G265C:p.E89Q,TRIP12:NM_001348320:exon4:c.G265C:p.E89Q,TRIP12:NM_001348321:exon4:c.G265C:p.E89Q,TRIP12:NM_001348323:exon4:c.G265C:p.E89Q,TRIP12:NM_001348324:exon4:c.G265C:p.E89Q,TRIP12:NM_001348326:exon4:c.G265C:p.E89Q,TRIP12:NM_001348327:exon4:c.G265C:p.E89Q,TRIP12:NM_001348328:exon4:c.G265C:p.E89Q,TRIP12:NM_001348329:exon4:c.G265C:p.E89Q,TRIP12:NM_001348330:exon4:c.G265C:p.E89Q,TRIP12:NM_001348332:exon4:c.G265C:p.E89Q,TRIP12:NM_001348333:exon4:c.G265C:p.E89Q,TRIP12:NM_001348334:exon4:c.G265C:p.E89Q,TRIP12:NM_001348335:exon4:c.G265C:p.E89Q,TRIP12:NM_001348336:exon4:c.G265C:p.E89Q,TRIP12:NM_001348322:exon5:c.G265C:p.E89Q,TRIP12:NM_001348325:exon5:c.G265C:p.E89Q	exonic	TRIP12	NA	nonsynonymous SNV	TRIP12:ENST00000283943.9:exon3:c.G139C:p.E47Q,TRIP12:ENST00000389044.8:exon4:c.G265C:p.E89Q,TRIP12:ENST00000409677.5:exon4:c.G265C:p.E89Q
EGBC3	chr2	233198256	233198256	C	T	INPP5D	Missense_Mutation	NM_001017915	exon25	c.C2855T	p.P952L	SNP	all_mutianno	exonic	INPP5D	NA	nonsynonymous SNV	INPP5D:NM_001017915:exon25:c.C2855T:p.P952L,INPP5D:NM_005541:exon25:c.C2852T:p.P951L	exonic	INPP5D	NA	nonsynonymous SNV	INPP5D:ENST00000359570.9:exon25:c.C2852T:p.P951L
EGBC3	chr3	42942630	42942630	G	T	KRBOX1	Missense_Mutation	NM_001205272	exon5	c.G370T	p.D124Y	SNP	all_mutianno	exonic	KRBOX1	NA	nonsynonymous SNV	KRBOX1:NM_001205272:exon5:c.G370T:p.D124Y	exonic	KRBOX1	NA	nonsynonymous SNV	KRBOX1:ENST00000418176.1:exon4:c.G370T:p.D124Y,KRBOX1:ENST00000383748.8:exon5:c.G370T:p.D124Y,KRBOX1:ENST00000426937.5:exon7:c.G370T:p.D124Y
EGBC3	chr3	128123645	128123645	T	G	RUVBL1	Missense_Mutation	NM_001319084	exon1	c.A80C	p.D27A	SNP	all_mutianno	exonic	RUVBL1	NA	nonsynonymous SNV	RUVBL1:NM_001319084:exon1:c.A80C:p.D27A,RUVBL1:NM_003707:exon1:c.A80C:p.D27A	exonic	RUVBL1	NA	nonsynonymous SNV	RUVBL1:ENST00000322623.9:exon1:c.A80C:p.D27A
EGBC3	chr3	130413564	130413564	G	A	COL6A5	Missense_Mutation	NM_001278298	exon21	c.G4682A	p.G1561E	SNP	all_mutianno	exonic	COL6A5	NA	nonsynonymous SNV	COL6A5:NM_001278298:exon21:c.G4682A:p.G1561E,COL6A5:NM_153264:exon21:c.G4682A:p.G1561E	exonic	COL6A5	NA	nonsynonymous SNV	COL6A5:ENST00000265379.10:exon21:c.G4682A:p.G1561E
EGBC3	chr3	167333840	167333840	C	T	ZBBX	Missense_Mutation	NM_001199201	exon10	c.G674A	p.R225K	SNP	all_mutianno	exonic	ZBBX	NA	nonsynonymous SNV	ZBBX:NM_001199201:exon10:c.G674A:p.R225K,ZBBX:NM_001199202:exon10:c.G587A:p.R196K,ZBBX:NM_024687:exon10:c.G674A:p.R225K,ZBBX:NM_001377489:exon11:c.G674A:p.R225K	exonic	ZBBX	NA	nonsynonymous SNV	ZBBX:ENST00000307529.9:exon7:c.G674A:p.R225K,ZBBX:ENST00000392767.6:exon8:c.G587A:p.R196K,ZBBX:ENST00000455345.6:exon9:c.G674A:p.R225K,ZBBX:ENST00000392764.5:exon10:c.G587A:p.R196K,ZBBX:ENST00000392766.6:exon10:c.G674A:p.R225K
EGBC3	chr3	180951413	180951413	G	T	FXR1	Missense_Mutation	NM_001013438	exon8	c.G746T	p.G249V	SNP	all_mutianno	exonic	FXR1	NA	nonsynonymous SNV	FXR1:NM_001013438:exon8:c.G746T:p.G249V,FXR1:NM_005087:exon8:c.G746T:p.G249V,FXR1:NM_001013439:exon9:c.G491T:p.G164V,FXR1:NM_001363882:exon9:c.G491T:p.G164V	exonic	FXR1	NA	nonsynonymous SNV	FXR1:ENST00000491062.5:exon6:c.G599T:p.G200V,FXR1:ENST00000468861.5:exon7:c.G491T:p.G164V,FXR1:ENST00000445140.6:exon8:c.G746T:p.G249V,FXR1:ENST00000480918.5:exon8:c.G707T:p.G236V,FXR1:ENST00000305586.11:exon9:c.G491T:p.G164V
EGBC3	chr4	3116124	3116124	T	C	HTT	Missense_Mutation	NM_002111	exon8	c.T929C	p.L310P	SNP	all_mutianno	exonic	HTT	NA	nonsynonymous SNV	HTT:NM_002111:exon8:c.T929C:p.L310P	exonic	HTT	NA	unknown	UNKNOWN
EGBC3	chr4	5959481	5959481	G	A	C4orf50	Missense_Mutation	NM_001364690	exon11	c.C3884T	p.S1295F	SNP	all_mutianno	exonic	C4orf50	NA	nonsynonymous SNV	C4orf50:NM_001364690:exon11:c.C3884T:p.S1295F,C4orf50:NM_001364689:exon12:c.C4421T:p.S1474F	exonic	C4orf50	NA	nonsynonymous SNV	C4orf50:ENST00000324058.9:exon7:c.C725T:p.S242F
EGBC3	chr4	37444966	37444966	C	A	NWD2	Missense_Mutation	NM_001144990	exon7	c.C2978A	p.T993N	SNP	all_mutianno	exonic	NWD2	NA	nonsynonymous SNV	NWD2:NM_001144990:exon7:c.C2978A:p.T993N	exonic	NWD2	NA	unknown	UNKNOWN
EGBC3	chr4	39115202	39115202	A	T	KLHL5	Missense_Mutation	NM_199039	exon9	c.A1762T	p.S588C	SNP	all_mutianno	exonic	KLHL5	NA	nonsynonymous SNV	KLHL5:NM_199039:exon9:c.A1762T:p.S588C,KLHL5:NM_001171654:exon10:c.A1522T:p.S508C,KLHL5:NM_015990:exon10:c.A1945T:p.S649C,KLHL5:NM_001007075:exon11:c.A1945T:p.S649C	exonic	KLHL5	NA	nonsynonymous SNV	KLHL5:ENST00000261426.9:exon9:c.A1900T:p.S634C,KLHL5:ENST00000381930.7:exon10:c.A2083T:p.S695C,KLHL5:ENST00000504108.5:exon10:c.A2083T:p.S695C,KLHL5:ENST00000508137.6:exon10:c.A1522T:p.S508C,KLHL5:ENST00000261425.7:exon11:c.A1945T:p.S649C
EGBC3	chr4	54699759	54699759	A	T	KIT	Missense_Mutation	NM_000222	exon4	c.A749T	p.N250I	SNP	all_mutianno	exonic	KIT	NA	nonsynonymous SNV	KIT:NM_000222:exon4:c.A749T:p.N250I,KIT:NM_001093772:exon4:c.A749T:p.N250I,KIT:NM_001385284:exon4:c.A749T:p.N250I,KIT:NM_001385285:exon4:c.A749T:p.N250I,KIT:NM_001385286:exon4:c.A749T:p.N250I,KIT:NM_001385288:exon4:c.A749T:p.N250I,KIT:NM_001385290:exon4:c.A749T:p.N250I,KIT:NM_001385292:exon4:c.A749T:p.N250I	exonic	KIT	NA	nonsynonymous SNV	KIT:ENST00000288135.5:exon4:c.A749T:p.N250I
EGBC3	chr4	61934876	61934876	C	A	ADGRL3	Missense_Mutation	NM_001371342	exon10	c.C1891A	p.Q631K	SNP	all_mutianno	exonic	ADGRL3	NA	nonsynonymous SNV	ADGRL3:NM_001371342:exon10:c.C1891A:p.Q631K,ADGRL3:NM_001371346:exon11:c.C1930A:p.Q644K,ADGRL3:NM_001371345:exon12:c.C2110A:p.Q704K,ADGRL3:NM_001322246:exon13:c.C1945A:p.Q649K,ADGRL3:NM_001371343:exon13:c.C2095A:p.Q699K,ADGRL3:NM_001371344:exon13:c.C2149A:p.Q717K,ADGRL3:NM_015236:exon13:c.C1945A:p.Q649K,ADGRL3:NM_001322402:exon14:c.C2149A:p.Q717K	exonic	ADGRL3	NA	nonsynonymous SNV	ADGRL3:ENST00000504896.5:exon11:c.C1945A:p.Q649K,ADGRL3:ENST00000506700.5:exon11:c.C1945A:p.Q649K,ADGRL3:ENST00000508946.5:exon11:c.C1945A:p.Q649K,ADGRL3:ENST00000514157.5:exon11:c.C1945A:p.Q649K,ADGRL3:ENST00000514996.5:exon11:c.C1945A:p.Q649K,ADGRL3:ENST00000506720.5:exon12:c.C2149A:p.Q717K,ADGRL3:ENST00000506746.5:exon12:c.C2149A:p.Q717K,ADGRL3:ENST00000507164.5:exon12:c.C2149A:p.Q717K,ADGRL3:ENST00000507625.5:exon12:c.C2149A:p.Q717K,ADGRL3:ENST00000508693.5:exon12:c.C2149A:p.Q717K,ADGRL3:ENST00000509896.5:exon12:c.C2149A:p.Q717K,ADGRL3:ENST00000511324.5:exon12:c.C2149A:p.Q717K,ADGRL3:ENST00000512091.6:exon13:c.C1945A:p.Q649K,ADGRL3:ENST00000514591.5:exon13:c.C1945A:p.Q649K
EGBC3	chr4	62070375	62070375	C	T	ADGRL3	Missense_Mutation	NM_001371342	exon21	c.C3796T	p.L1266F	SNP	all_mutianno	exonic	ADGRL3	NA	nonsynonymous SNV	ADGRL3:NM_001371342:exon21:c.C3796T:p.L1266F,ADGRL3:NM_001371346:exon22:c.C3835T:p.L1279F,ADGRL3:NM_001371345:exon23:c.C4015T:p.L1339F,ADGRL3:NM_001371343:exon24:c.C4000T:p.L1334F,ADGRL3:NM_001371344:exon24:c.C4054T:p.L1352F,ADGRL3:NM_015236:exon25:c.C3877T:p.L1293F,ADGRL3:NM_001322402:exon26:c.C4081T:p.L1361F	exonic	ADGRL3	NA	nonsynonymous SNV	ADGRL3:ENST00000507625.5:exon23:c.C4054T:p.L1352F,ADGRL3:ENST00000514996.5:exon23:c.C3979T:p.L1327F,ADGRL3:ENST00000506746.5:exon24:c.C4183T:p.L1395F,ADGRL3:ENST00000508946.5:exon24:c.C4006T:p.L1336F,ADGRL3:ENST00000506720.5:exon25:c.C4210T:p.L1404F,ADGRL3:ENST00000514591.5:exon25:c.C3877T:p.L1293F
EGBC3	chr4	69635787	69635787	C	T	UGT2A1	Missense_Mutation	NM_001252275	exon3	c.G751A	p.V251M	SNP	all_mutianno	exonic	UGT2A1	NA	nonsynonymous SNV	UGT2A1:NM_001252275:exon3:c.G751A:p.V251M	exonic	UGT2A1	NA	nonsynonymous SNV	UGT2A1:ENST00000286604.8:exon3:c.G751A:p.V251M
EGBC3	chr4	69639637	69639637	C	A	UGT2A2	Missense_Mutation	NM_001105677	exon1	c.G4T	p.V2F	SNP	all_mutianno	exonic	UGT2A2	NA	nonsynonymous SNV	UGT2A2:NM_001105677:exon1:c.G4T:p.V2F,UGT2A2:NM_001301233:exon1:c.G4T:p.V2F	exonic	UGT2A2	NA	nonsynonymous SNV	UGT2A2:ENST00000604021.1:exon1:c.G4T:p.V2F,UGT2A2:ENST00000604629.5:exon1:c.G4T:p.V2F
EGBC3	chr4	69639638	69639638	C	A	UGT2A2	Translation_Start_Site	NM_001105677	exon1	c.G3T	p.M1?	SNP	all_mutianno	exonic	UGT2A2	NA	startloss	UGT2A2:NM_001105677:exon1:c.G3T:p.M1?,UGT2A2:NM_001301233:exon1:c.G3T:p.M1?	exonic	UGT2A2	NA	startloss	UGT2A2:ENST00000604021.1:exon1:c.G3T:p.M1?,UGT2A2:ENST00000604629.5:exon1:c.G3T:p.M1?
EGBC3	chr4	83295433	83295433	G	A	HPSE	Missense_Mutation	NM_001166498	exon11	c.C1321T	p.P441S	SNP	all_mutianno	exonic	HPSE	NA	nonsynonymous SNV	HPSE:NM_001166498:exon11:c.C1321T:p.P441S,HPSE:NM_001199830:exon11:c.C1369T:p.P457S,HPSE:NM_001098540:exon12:c.C1543T:p.P515S,HPSE:NM_006665:exon13:c.C1543T:p.P515S	exonic	HPSE	NA	nonsynonymous SNV	HPSE:ENST00000512196.5:exon11:c.C1321T:p.P441S,HPSE:ENST00000513463.1:exon11:c.C1369T:p.P457S,HPSE:ENST00000405413.6:exon13:c.C1543T:p.P515S
EGBC3	chr4	99649593	99649593	C	A	C4orf54	Missense_Mutation	NM_001354435	exon2	c.G5056T	p.V1686L	SNP	all_mutianno	exonic	C4orf54	NA	nonsynonymous SNV	C4orf54:NM_001354435:exon2:c.G5056T:p.V1686L	exonic	RP11-766F14.2	NA	nonsynonymous SNV	RP11-766F14.2:ENST00000511828.1:exon1:c.G5056T:p.V1686L
EGBC3	chr4	118105019	118105019	C	A	NDST3	Missense_Mutation	NM_004784	exon3	c.C983A	p.A328D	SNP	all_mutianno	exonic	NDST3	NA	nonsynonymous SNV	NDST3:NM_004784:exon3:c.C983A:p.A328D	exonic	NDST3	NA	unknown	UNKNOWN
EGBC3	chr4	122381094	122381094	G	T	ADAD1	Missense_Mutation	NM_001159285	exon3	c.G275T	p.R92L	SNP	all_mutianno	exonic	ADAD1	NA	nonsynonymous SNV	ADAD1:NM_001159285:exon3:c.G275T:p.R92L,ADAD1:NM_001159295:exon3:c.G221T:p.R74L,ADAD1:NM_139243:exon4:c.G275T:p.R92L	exonic	ADAD1	NA	nonsynonymous SNV	ADAD1:ENST00000388724.6:exon3:c.G275T:p.R92L,ADAD1:ENST00000388725.2:exon3:c.G221T:p.R74L
EGBC3	chr4	122411362	122411362	C	T	ADAD1	Missense_Mutation	NM_001159285	exon8	c.C956T	p.P319L	SNP	all_mutianno	exonic	ADAD1	NA	nonsynonymous SNV	ADAD1:NM_001159285:exon8:c.C956T:p.P319L,ADAD1:NM_001159295:exon8:c.C935T:p.P312L,ADAD1:NM_139243:exon9:c.C989T:p.P330L	exonic	ADAD1	NA	nonsynonymous SNV	ADAD1:ENST00000388724.6:exon8:c.C956T:p.P319L,ADAD1:ENST00000388725.2:exon8:c.C935T:p.P312L
EGBC3	chr4	153315494	153315494	G	A	TRIM2	Missense_Mutation	NM_001375519	exon5	c.G1187A	p.G396E	SNP	all_mutianno	exonic	TRIM2	NA	nonsynonymous SNV	TRIM2:NM_001375519:exon5:c.G1187A:p.G396E,TRIM2:NM_001375520:exon5:c.G1184A:p.G395E,TRIM2:NM_001375525:exon6:c.G1181A:p.G394E,TRIM2:NM_001130067:exon7:c.G1439A:p.G480E,TRIM2:NM_001351054:exon7:c.G1493A:p.G498E,TRIM2:NM_001351055:exon7:c.G1490A:p.G497E,TRIM2:NM_001351056:exon7:c.G1439A:p.G480E,TRIM2:NM_001375490:exon7:c.G1463A:p.G488E,TRIM2:NM_001375491:exon7:c.G1460A:p.G487E,TRIM2:NM_001375513:exon7:c.G1439A:p.G480E,TRIM2:NM_001375514:exon7:c.G1439A:p.G480E,TRIM2:NM_001375515:exon7:c.G1439A:p.G480E,TRIM2:NM_001375517:exon7:c.G1439A:p.G480E,TRIM2:NM_001375522:exon7:c.G1181A:p.G394E,TRIM2:NM_001375523:exon7:c.G1181A:p.G394E,TRIM2:NM_015271:exon7:c.G1520A:p.G507E,TRIM2:NM_001351057:exon8:c.G1064A:p.G355E,TRIM2:NM_001375488:exon8:c.G1613A:p.G538E,TRIM2:NM_001375489:exon8:c.G1610A:p.G537E,TRIM2:NM_001375512:exon8:c.G1439A:p.G480E,TRIM2:NM_001375516:exon8:c.G1439A:p.G480E	exonic	TRIM2	NA	nonsynonymous SNV	TRIM2:ENST00000437508.6:exon7:c.G1439A:p.G480E
EGBC3	chr4	161920617	161920617	C	T	FSTL5	Missense_Mutation	NM_001128427	exon4	c.G193A	p.E65K	SNP	all_mutianno	exonic	FSTL5	NA	nonsynonymous SNV	FSTL5:NM_001128427:exon4:c.G193A:p.E65K,FSTL5:NM_001128428:exon4:c.G193A:p.E65K,FSTL5:NM_020116:exon4:c.G196A:p.E66K	exonic	FSTL5	NA	nonsynonymous SNV	FSTL5:ENST00000379164.8:exon4:c.G193A:p.E65K,FSTL5:ENST00000427802.2:exon4:c.G193A:p.E65K
EGBC3	chr4	175787345	175787345	C	A	GPM6A	Missense_Mutation	NM_001261448	exon1	c.G7T	p.D3Y	SNP	all_mutianno	exonic	GPM6A	NA	nonsynonymous SNV	GPM6A:NM_001261448:exon1:c.G7T:p.D3Y	exonic	GPM6A	NA	nonsynonymous SNV	GPM6A:ENST00000515090.5:exon1:c.G7T:p.D3Y
EGBC3	chr4	185678807	185678807	G	A	SORBS2	Missense_Mutation	NM_001145672	exon3	c.C26T	p.S9L	SNP	all_mutianno	exonic	SORBS2	NA	nonsynonymous SNV	SORBS2:NM_001145672:exon3:c.C26T:p.S9L,SORBS2:NM_001145671:exon4:c.C77T:p.S26L,SORBS2:NM_003603:exon4:c.C26T:p.S9L,SORBS2:NM_001145670:exon5:c.C77T:p.S26L,SORBS2:NM_001270771:exon6:c.C119T:p.S40L	exonic	SORBS2	NA	nonsynonymous SNV	SORBS2:ENST00000448662.6:exon3:c.C26T:p.S9L,SORBS2:ENST00000319471.13:exon4:c.C77T:p.S26L,SORBS2:ENST00000393528.7:exon4:c.C26T:p.S9L,SORBS2:ENST00000449407.6:exon5:c.C77T:p.S26L,SORBS2:ENST00000355634.9:exon6:c.C119T:p.S40L
EGBC3	chr5	907152	907152	G	A	TRIP13	Missense_Mutation	NM_001166260	exon7	c.G631A	p.E211K	SNP	all_mutianno	exonic	TRIP13	NA	nonsynonymous SNV	TRIP13:NM_001166260:exon7:c.G631A:p.E211K,TRIP13:NM_004237:exon7:c.G631A:p.E211K	exonic	TRIP13	NA	unknown	UNKNOWN
EGBC3	chr5	31313346	31313346	G	C	CDH6	Missense_Mutation	NM_001362435	exon8	c.G1282C	p.D428H	SNP	all_mutianno	exonic	CDH6	NA	nonsynonymous SNV	CDH6:NM_001362435:exon8:c.G1282C:p.D428H,CDH6:NM_004932:exon8:c.G1282C:p.D428H	exonic	CDH6	NA	nonsynonymous SNV	CDH6:ENST00000514738.5:exon8:c.G1117C:p.D373H
EGBC3	chr5	32010453	32010453	G	C	PDZD2	Missense_Mutation	NM_178140	exon6	c.G1378C	p.E460Q	SNP	all_mutianno	exonic	PDZD2	NA	nonsynonymous SNV	PDZD2:NM_178140:exon6:c.G1378C:p.E460Q	exonic	PDZD2	NA	unknown	UNKNOWN
EGBC3	chr5	39134869	39134869	G	T	FYB1	Missense_Mutation	NM_001243093	exon8	c.C1691A	p.T564K	SNP	all_mutianno	exonic	FYB1	NA	nonsynonymous SNV	FYB1:NM_001243093:exon8:c.C1691A:p.T564K,FYB1:NM_001465:exon8:c.C1661A:p.T554K,FYB1:NM_199335:exon8:c.C1661A:p.T554K,FYB1:NM_001349333:exon9:c.C1661A:p.T554K,FYB1:NM_018594:exon9:c.C1691A:p.T564K	exonic	FYB	NA	nonsynonymous SNV	FYB:ENST00000515010.5:exon7:c.C1661A:p.T554K
EGBC3	chr5	39341229	39341229	C	A	C9	Missense_Mutation	NM_001737	exon4	c.G393T	p.E131D	SNP	all_mutianno	exonic	C9	NA	nonsynonymous SNV	C9:NM_001737:exon4:c.G393T:p.E131D	exonic	C9	NA	unknown	UNKNOWN
EGBC3	chr5	72198543	72198543	C	A	MAP1B	Missense_Mutation	NM_001324255	exon4	c.C4810A	p.P1604T	SNP	all_mutianno	exonic	MAP1B	NA	nonsynonymous SNV	MAP1B:NM_001324255:exon4:c.C4810A:p.P1604T,MAP1B:NM_005909:exon5:c.C5188A:p.P1730T	exonic	MAP1B	NA	unknown	UNKNOWN
EGBC3	chr5	73173792	73173792	C	A	TMEM174	Nonsense_Mutation	NM_153217	exon1	c.C549A	p.Y183X	SNP	all_mutianno	exonic	TMEM174	NA	stopgain	TMEM174:NM_153217:exon1:c.C549A:p.Y183X	exonic	TMEM174	NA	unknown	UNKNOWN
EGBC3	chr5	83537207	83537207	G	T	VCAN	Missense_Mutation	NM_001164097	exon7	c.G1243T	p.V415L	SNP	all_mutianno	exonic	VCAN	NA	nonsynonymous SNV	VCAN:NM_001164097:exon7:c.G1243T:p.V415L,VCAN:NM_004385:exon8:c.G4204T:p.V1402L	exonic	VCAN	NA	nonsynonymous SNV	VCAN:ENST00000343200.9:exon7:c.G1243T:p.V415L
EGBC3	chr5	90745199	90745200	TA	T	ADGRV1	Frame_Shift_Del	NM_032119	exon51	c.10704delA	p.V3569Wfs*10	DEL	all_mutianno	exonic	ADGRV1	NA	frameshift deletion	ADGRV1:NM_032119:exon51:c.10704delA:p.V3569Wfs*10	exonic	ADGRV1	NA	unknown	UNKNOWN
EGBC3	chr5	94654648	94654648	A	G	SLF1	Missense_Mutation	NM_032290	exon9	c.A1051G	p.I351V	SNP	all_mutianno	exonic	SLF1	NA	nonsynonymous SNV	SLF1:NM_032290:exon9:c.A1051G:p.I351V	exonic	SLF1	NA	unknown	UNKNOWN
EGBC3	chr5	115963228	115963228	T	A	LVRN	Missense_Mutation	NM_173800	exon1	c.T611A	p.L204Q	SNP	all_mutianno	exonic	LVRN	NA	nonsynonymous SNV	LVRN:NM_173800:exon1:c.T611A:p.L204Q	exonic	LVRN	NA	nonsynonymous SNV	LVRN:ENST00000395528.6:exon2:c.T575A:p.L192Q
EGBC3	chr5	121852321	121852321	C	T	FTMT	Missense_Mutation	NM_177478	exon1	c.C358T	p.R120W	SNP	all_mutianno	exonic	FTMT	NA	nonsynonymous SNV	FTMT:NM_177478:exon1:c.C358T:p.R120W	exonic	FTMT	NA	unknown	UNKNOWN
EGBC3	chr5	128966286	128966286	G	T	SLC27A6	Missense_Mutation	NM_001017372	exon1	c.G149T	p.R50I	SNP	all_mutianno	exonic	SLC27A6	NA	nonsynonymous SNV	SLC27A6:NM_001017372:exon1:c.G149T:p.R50I,SLC27A6:NM_001317984:exon2:c.G149T:p.R50I,SLC27A6:NM_014031:exon2:c.G149T:p.R50I	exonic	SLC27A6	NA	nonsynonymous SNV	SLC27A6:ENST00000395266.5:exon2:c.G149T:p.R50I,SLC27A6:ENST00000506176.1:exon2:c.G149T:p.R50I
EGBC3	chr5	131453076	131453076	G	A	RAPGEF6	Missense_Mutation	NM_001164386	exon21	c.C3178T	p.P1060S	SNP	all_mutianno	exonic	RAPGEF6	NA	nonsynonymous SNV	RAPGEF6:NM_001164386:exon21:c.C3178T:p.P1060S,RAPGEF6:NM_001164388:exon21:c.C3178T:p.P1060S,RAPGEF6:NM_001164389:exon21:c.C3178T:p.P1060S,RAPGEF6:NM_016340:exon21:c.C3178T:p.P1060S,RAPGEF6:NM_001164387:exon22:c.C3193T:p.P1065S	exonic	CTC-432M15.3;RAPGEF6	NA	nonsynonymous SNV	RAPGEF6:ENST00000512052.5:exon13:c.C2323T:p.P775S,RAPGEF6:ENST00000296859.10:exon21:c.C3178T:p.P1060S,RAPGEF6:ENST00000308008.10:exon21:c.C3178T:p.P1060S,RAPGEF6:ENST00000509018.5:exon21:c.C3178T:p.P1060S,RAPGEF6:ENST00000627212.2:exon21:c.C3178T:p.P1060S,RAPGEF6:ENST00000507093.5:exon22:c.C3193T:p.P1065S,CTC-432M15.3:ENST00000514667.1:exon22:c.C3328T:p.P1110S
EGBC3	chr5	132609391	132609391	C	T	RAD50	Nonsense_Mutation	NM_005732	exon19	c.C3031T	p.Q1011X	SNP	all_mutianno	exonic	RAD50	NA	stopgain	RAD50:NM_005732:exon19:c.C3031T:p.Q1011X	exonic	RAD50	NA	unknown	UNKNOWN
EGBC3	chr5	138932596	138932596	A	T	CTNNA1	Nonsense_Mutation	NM_001324010	exon8	c.A868T	p.K290X	SNP	all_mutianno	exonic	CTNNA1	NA	stopgain	CTNNA1:NM_001324010:exon8:c.A868T:p.K290X,CTNNA1:NM_001324012:exon9:c.A964T:p.K322X,CTNNA1:NM_001290312:exon11:c.A1207T:p.K403X,CTNNA1:NM_001323987:exon11:c.A1207T:p.K403X,CTNNA1:NM_001323994:exon11:c.A1207T:p.K403X,CTNNA1:NM_001324002:exon11:c.A1207T:p.K403X,CTNNA1:NM_001324004:exon11:c.A1207T:p.K403X,CTNNA1:NM_001323989:exon12:c.A1207T:p.K403X,CTNNA1:NM_001323991:exon12:c.A1207T:p.K403X,CTNNA1:NM_001324000:exon12:c.A1207T:p.K403X,CTNNA1:NM_001324008:exon12:c.A868T:p.K290X,CTNNA1:NM_001324009:exon12:c.A868T:p.K290X,CTNNA1:NM_001324013:exon12:c.A964T:p.K322X,CTNNA1:NM_001323990:exon13:c.A1207T:p.K403X,CTNNA1:NM_001324003:exon13:c.A1207T:p.K403X,CTNNA1:NM_001324011:exon13:c.A1114T:p.K372X,CTNNA1:NM_001323988:exon14:c.A1207T:p.K403X,CTNNA1:NM_001323992:exon14:c.A1207T:p.K403X,CTNNA1:NM_001323993:exon14:c.A1207T:p.K403X,CTNNA1:NM_001323995:exon14:c.A1207T:p.K403X,CTNNA1:NM_001323996:exon14:c.A1207T:p.K403X,CTNNA1:NM_001323997:exon14:c.A1207T:p.K403X,CTNNA1:NM_001323998:exon14:c.A1207T:p.K403X,CTNNA1:NM_001323999:exon14:c.A1207T:p.K403X,CTNNA1:NM_001324005:exon14:c.A1207T:p.K403X,CTNNA1:NM_001324007:exon14:c.A868T:p.K290X,CTNNA1:NM_001324006:exon15:c.A868T:p.K290X,CTNNA1:NM_001290309:exon16:c.A2008T:p.K670X,CTNNA1:NM_001323986:exon16:c.A2224T:p.K742X,CTNNA1:NM_001290307:exon17:c.A2317T:p.K773X,CTNNA1:NM_001290310:exon17:c.A1948T:p.K650X,CTNNA1:NM_001323983:exon17:c.A2317T:p.K773X,CTNNA1:NM_001323985:exon17:c.A2317T:p.K773X,CTNNA1:NM_001903:exon17:c.A2317T:p.K773X,CTNNA1:NM_001323982:exon18:c.A2317T:p.K773X,CTNNA1:NM_001323984:exon18:c.A2317T:p.K773X	exonic	CTNNA1	NA	stopgain	CTNNA1:ENST00000540387.5:exon11:c.A1207T:p.K403X,CTNNA1:ENST00000518825.5:exon16:c.A2317T:p.K773X,CTNNA1:ENST00000627109.2:exon17:c.A2317T:p.K773X
EGBC3	chr5	140858060	140858060	G	T	PCDHA10	Missense_Mutation	NM_018901	exon1	c.G2012T	p.G671V	SNP	all_mutianno	exonic	PCDHA10	NA	nonsynonymous SNV	PCDHA10:NM_018901:exon1:c.G2012T:p.G671V,PCDHA10:NM_031859:exon1:c.G2012T:p.G671V	exonic	PCDHA10	NA	nonsynonymous SNV	PCDHA10:ENST00000562220.2:exon1:c.G2012T:p.G671V
EGBC3	chr5	141152638	141152638	G	A	PCDHB6	Missense_Mutation	NM_018939	exon1	c.G2381A	p.S794N	SNP	all_mutianno	exonic	PCDHB6	NA	nonsynonymous SNV	PCDHB6:NM_018939:exon1:c.G2381A:p.S794N,PCDHB6:NM_001303145:exon2:c.G1973A:p.S658N	exonic	PCDHB6	NA	nonsynonymous SNV	PCDHB6:ENST00000231136.3:exon1:c.G2381A:p.S794N,PCDHB6:ENST00000622991.1:exon2:c.G1973A:p.S658N
EGBC3	chr5	141193979	141193979	C	T	PCDHB10	Missense_Mutation	NM_018930	exon1	c.C1427T	p.T476I	SNP	all_mutianno	exonic	PCDHB10	NA	nonsynonymous SNV	PCDHB10:NM_018930:exon1:c.C1427T:p.T476I	exonic	PCDHB10	NA	nonsynonymous SNV	PCDHB10:ENST00000239446.5:exon1:c.C1427T:p.T476I
EGBC3	chr5	141215838	141215838	G	T	PCDHB13	Missense_Mutation	NM_018933	exon1	c.G1715T	p.C572F	SNP	all_mutianno	exonic	PCDHB13	NA	nonsynonymous SNV	PCDHB13:NM_018933:exon1:c.G1715T:p.C572F	exonic	PCDHB13	NA	nonsynonymous SNV	PCDHB13:ENST00000341948.6:exon1:c.G1715T:p.C572F
EGBC3	chr5	141351782	141351782	G	A	PCDHGB1	Missense_Mutation	NM_018922	exon1	c.G1522A	p.G508R	SNP	all_mutianno	exonic	PCDHGB1	NA	nonsynonymous SNV	PCDHGB1:NM_018922:exon1:c.G1522A:p.G508R,PCDHGB1:NM_032095:exon1:c.G1522A:p.G508R	exonic	PCDHGB1	NA	nonsynonymous SNV	PCDHGB1:ENST00000523390.1:exon1:c.G1522A:p.G508R,PCDHGB1:ENST00000611598.1:exon1:c.G1522A:p.G508R
EGBC3	chr5	141432105	141432105	C	T	PCDHGA12	Missense_Mutation	NM_003735	exon1	c.C1346T	p.P449L	SNP	all_mutianno	exonic	PCDHGA12	NA	nonsynonymous SNV	PCDHGA12:NM_003735:exon1:c.C1346T:p.P449L,PCDHGA12:NM_032094:exon1:c.C1346T:p.P449L	exonic	PCDHGA12	NA	nonsynonymous SNV	PCDHGA12:ENST00000613314.1:exon1:c.C1346T:p.P449L
EGBC3	chr5	141574147	141574148	GC	G	DIAPH1	Frame_Shift_Del	NM_001079812	exon15	c.1675delG	p.A559Qfs*200	DEL	all_mutianno	exonic	DIAPH1	NA	frameshift deletion	DIAPH1:NM_001079812:exon15:c.1675delG:p.A559Qfs*200,DIAPH1:NM_001314007:exon16:c.1702delG:p.A568Qfs*200,DIAPH1:NM_005219:exon16:c.1702delG:p.A568Qfs*200	exonic	DIAPH1	NA	frameshift deletion	DIAPH1:ENST00000389057.9:exon15:c.1675delG:p.A559Qfs*200,DIAPH1:ENST00000518047.5:exon15:c.1675delG:p.A559Qfs*200,DIAPH1:ENST00000253811.10:exon16:c.1570delG:p.A524Qfs*200,DIAPH1:ENST00000398557.8:exon16:c.1702delG:p.A568Qfs*200
EGBC3	chr5	154793904	154793904	G	T	LARP1	Missense_Mutation	NM_001367713	exon6	c.G358T	p.V120L	SNP	all_mutianno	exonic	LARP1	NA	nonsynonymous SNV	LARP1:NM_001367713:exon6:c.G358T:p.V120L,LARP1:NM_001367717:exon6:c.G742T:p.V248L,LARP1:NM_001367719:exon6:c.G358T:p.V120L,LARP1:NM_015315:exon6:c.G742T:p.V248L,LARP1:NM_033551:exon6:c.G973T:p.V325L,LARP1:NM_001367714:exon7:c.G358T:p.V120L	exonic	LARP1	NA	unknown	UNKNOWN
EGBC3	chr5	157163220	157163220	C	A	FAM71B	Missense_Mutation	NM_130899	exon2	c.G1045T	p.A349S	SNP	all_mutianno	exonic	FAM71B	NA	nonsynonymous SNV	FAM71B:NM_130899:exon2:c.G1045T:p.A349S	exonic	FAM71B	NA	nonsynonymous SNV	FAM71B:ENST00000302938.4:exon2:c.G1045T:p.A349S
EGBC3	chr5	169300531	169300531	G	T	SLIT3	Missense_Mutation	NM_001271946	exon1	c.C179A	p.P60H	SNP	all_mutianno	exonic	SLIT3	NA	nonsynonymous SNV	SLIT3:NM_001271946:exon1:c.C179A:p.P60H,SLIT3:NM_003062:exon1:c.C179A:p.P60H	exonic	SLIT3	NA	nonsynonymous SNV	SLIT3:ENST00000332966.8:exon1:c.C179A:p.P60H,SLIT3:ENST00000519560.5:exon1:c.C179A:p.P60H
EGBC3	chr5	170079111	170079111	G	T	DOCK2	Missense_Mutation	NM_004946	exon49	c.G5131T	p.D1711Y	SNP	all_mutianno	exonic	DOCK2	NA	nonsynonymous SNV	DOCK2:NM_004946:exon49:c.G5131T:p.D1711Y	exonic	DOCK2	NA	unknown	UNKNOWN
EGBC3	chr5	172968539	172968539	G	T	RPL26L1	Missense_Mutation	NM_001317980	exon3	c.G249T	p.E83D	SNP	all_mutianno	exonic	RPL26L1	NA	nonsynonymous SNV	RPL26L1:NM_001317980:exon3:c.G249T:p.E83D,RPL26L1:NM_001317981:exon3:c.G249T:p.E83D,RPL26L1:NM_001317982:exon3:c.G249T:p.E83D,RPL26L1:NM_016093:exon3:c.G249T:p.E83D	exonic	RPL26L1	NA	nonsynonymous SNV	RPL26L1:ENST00000265100.6:exon3:c.G249T:p.E83D,RPL26L1:ENST00000519239.5:exon3:c.G249T:p.E83D,RPL26L1:ENST00000519974.5:exon3:c.G249T:p.E83D,RPL26L1:ENST00000521476.5:exon3:c.G249T:p.E83D
EGBC3	chr6	37655861	37655861	C	A	MDGA1	Missense_Mutation	NM_153487	exon4	c.G418T	p.V140L	SNP	all_mutianno	exonic	MDGA1	NA	nonsynonymous SNV	MDGA1:NM_153487:exon4:c.G418T:p.V140L	exonic	MDGA1	NA	nonsynonymous SNV	MDGA1:ENST00000505425.5:exon4:c.G418T:p.V140L
EGBC3	chr6	41587502	41587502	C	T	FOXP4	Missense_Mutation	NM_001012426	exon7	c.C862T	p.R288W	SNP	all_mutianno	exonic	FOXP4	NA	nonsynonymous SNV	FOXP4:NM_001012426:exon7:c.C862T:p.R288W,FOXP4:NM_001012427:exon7:c.C856T:p.R286W,FOXP4:NM_138457:exon7:c.C859T:p.R287W	exonic	FOXP4	NA	nonsynonymous SNV	FOXP4:ENST00000307972.8:exon6:c.C862T:p.R288W,FOXP4:ENST00000373057.7:exon7:c.C856T:p.R286W,FOXP4:ENST00000373060.5:exon7:c.C862T:p.R288W,FOXP4:ENST00000373063.7:exon7:c.C859T:p.R287W,FOXP4:ENST00000409208.5:exon7:c.C862T:p.R288W
EGBC3	chr6	57148396	57148396	C	T	ZNF451	Missense_Mutation	NM_001031623	exon10	c.C2311T	p.H771Y	SNP	all_mutianno	exonic	ZNF451	NA	nonsynonymous SNV	ZNF451:NM_001031623:exon10:c.C2311T:p.H771Y,ZNF451:NM_015555:exon10:c.C2311T:p.H771Y	exonic	ZNF451	NA	nonsynonymous SNV	ZNF451:ENST00000357489.7:exon10:c.C2311T:p.H771Y,ZNF451:ENST00000491832.6:exon10:c.C2311T:p.H771Y
EGBC3	chr6	68956650	68956650	G	T	ADGRB3	Missense_Mutation	NM_001704	exon8	c.G1366T	p.G456C	SNP	all_mutianno	exonic	ADGRB3	NA	nonsynonymous SNV	ADGRB3:NM_001704:exon8:c.G1366T:p.G456C	exonic	ADGRB3	NA	nonsynonymous SNV	ADGRB3:ENST00000546190.5:exon6:c.G1366T:p.G456C
EGBC3	chr6	70302074	70302074	C	G	COL9A1	Missense_Mutation	NM_001377291	exon2	c.G15C	p.W5C	SNP	all_mutianno	exonic	COL9A1	NA	nonsynonymous SNV	COL9A1:NM_001377291:exon2:c.G15C:p.W5C,COL9A1:NM_001851:exon2:c.G15C:p.W5C	exonic	COL9A1	NA	nonsynonymous SNV	COL9A1:ENST00000357250.10:exon2:c.G15C:p.W5C,COL9A1:ENST00000370496.3:exon2:c.G15C:p.W5C
EGBC3	chr6	112140885	112140885	T	A	LAMA4	Missense_Mutation	NM_001105206	exon22	c.A2851T	p.S951C	SNP	all_mutianno	exonic	LAMA4	NA	nonsynonymous SNV	LAMA4:NM_001105206:exon22:c.A2851T:p.S951C,LAMA4:NM_001105207:exon22:c.A2830T:p.S944C,LAMA4:NM_002290:exon22:c.A2830T:p.S944C	exonic	LAMA4	NA	nonsynonymous SNV	LAMA4:ENST00000424408.6:exon21:c.A2830T:p.S944C,LAMA4:ENST00000230538.11:exon22:c.A2851T:p.S951C,LAMA4:ENST00000522006.5:exon22:c.A2830T:p.S944C
EGBC3	chr6	116880648	116880648	G	C	RFX6	Missense_Mutation	NM_173560	exon3	c.G485C	p.C162S	SNP	all_mutianno	exonic	RFX6	NA	nonsynonymous SNV	RFX6:NM_173560:exon3:c.G485C:p.C162S	exonic	RFX6	NA	unknown	UNKNOWN
EGBC3	chr6	123503695	123503695	C	A	TRDN	Missense_Mutation	NM_001256021	exon8	c.G817T	p.A273S	SNP	all_mutianno	exonic	TRDN	NA	nonsynonymous SNV	TRDN:NM_001256021:exon8:c.G817T:p.A273S	exonic	TRDN	NA	nonsynonymous SNV	TRDN:ENST00000546248.5:exon8:c.G817T:p.A273S
EGBC3	chr6	129280100	129280100	G	T	LAMA2	Missense_Mutation	NM_000426	exon18	c.G2490T	p.L830F	SNP	all_mutianno	exonic	LAMA2	NA	nonsynonymous SNV	LAMA2:NM_000426:exon18:c.G2490T:p.L830F,LAMA2:NM_001079823:exon18:c.G2490T:p.L830F	exonic	LAMA2	NA	nonsynonymous SNV	LAMA2:ENST00000421865.2:exon18:c.G2490T:p.L830F,LAMA2:ENST00000617695.4:exon18:c.G2490T:p.L830F,LAMA2:ENST00000618192.4:exon18:c.G2490T:p.L830F
EGBC3	chr6	142770620	142770620	C	A	HIVEP2	Missense_Mutation	NM_006734	exon5	c.G4119T	p.M1373I	SNP	all_mutianno	exonic	HIVEP2	NA	nonsynonymous SNV	HIVEP2:NM_006734:exon5:c.G4119T:p.M1373I	exonic	HIVEP2	NA	nonsynonymous SNV	HIVEP2:ENST00000012134.7:exon4:c.G4119T:p.M1373I,HIVEP2:ENST00000367604.6:exon5:c.G4119T:p.M1373I
EGBC3	chr6	144789220	144789220	A	G	UTRN	Missense_Mutation	NM_001375323	exon12	c.A1526G	p.Q509R	SNP	all_mutianno	exonic	UTRN	NA	nonsynonymous SNV	UTRN:NM_001375323:exon12:c.A1526G:p.Q509R,UTRN:NM_007124:exon61:c.A8861G:p.Q2954R	exonic	UTRN	NA	nonsynonymous SNV	UTRN:ENST00000367526.8:exon12:c.A1526G:p.Q509R,UTRN:ENST00000367545.7:exon61:c.A8861G:p.Q2954R
EGBC3	chr6	146399491	146399491	G	T	GRM1	Missense_Mutation	NM_001278064	exon7	c.G2452T	p.A818S	SNP	all_mutianno	exonic	GRM1	NA	nonsynonymous SNV	GRM1:NM_001278064:exon7:c.G2452T:p.A818S,GRM1:NM_001278066:exon7:c.G2452T:p.A818S,GRM1:NM_001278067:exon7:c.G2452T:p.A818S,GRM1:NM_001278065:exon8:c.G2452T:p.A818S	exonic	GRM1	NA	nonsynonymous SNV	GRM1:ENST00000355289.8:exon7:c.G2452T:p.A818S,GRM1:ENST00000507907.1:exon7:c.G2452T:p.A818S,GRM1:ENST00000361719.6:exon8:c.G2452T:p.A818S,GRM1:ENST00000492807.6:exon8:c.G2452T:p.A818S
EGBC3	chr6	146434435	146434435	T	TG	GRM1	Frame_Shift_Ins	NM_001278064	exon8	c.3225dupG	p.Q1076Afs*29	INS	all_mutianno	exonic	GRM1	NA	frameshift insertion	GRM1:NM_001278064:exon8:c.3225dupG:p.Q1076Afs*29	exonic	GRM1	NA	frameshift insertion	GRM1:ENST00000361719.6:exon9:c.3225dupG:p.Q1076Afs*29
EGBC3	chr6	146664209	146664209	G	T	ADGB	Missense_Mutation	NM_024694	exon6	c.G621T	p.W207C	SNP	all_mutianno	exonic	ADGB	NA	nonsynonymous SNV	ADGB:NM_024694:exon6:c.G621T:p.W207C	exonic	ADGB	NA	unknown	UNKNOWN
EGBC3	chr7	20141070	20141070	G	A	MACC1	Missense_Mutation	NM_182762	exon7	c.C2435T	p.S812L	SNP	all_mutianno	exonic	MACC1	NA	nonsynonymous SNV	MACC1:NM_182762:exon7:c.C2435T:p.S812L	exonic	MACC1	NA	nonsynonymous SNV	MACC1:ENST00000332878.8:exon5:c.C2435T:p.S812L,MACC1:ENST00000589011.1:exon5:c.C2435T:p.S812L,MACC1:ENST00000400331.9:exon7:c.C2435T:p.S812L
EGBC3	chr7	21655965	21655965	G	T	DNAH11	Missense_Mutation	NM_001277115	exon29	c.G5078T	p.C1693F	SNP	all_mutianno	exonic	DNAH11	NA	nonsynonymous SNV	DNAH11:NM_001277115:exon29:c.G5078T:p.C1693F	exonic	DNAH11	NA	nonsynonymous SNV	DNAH11:ENST00000328843.10:exon29:c.G5093T:p.C1698F,DNAH11:ENST00000620169.4:exon29:c.G5093T:p.C1698F
EGBC3	chr7	22945806	22945806	A	C	FAM126A	Missense_Mutation	NM_032581	exon11	c.T1349G	p.F450C	SNP	all_mutianno	exonic	FAM126A	NA	nonsynonymous SNV	FAM126A:NM_032581:exon11:c.T1349G:p.F450C	exonic	FAM126A	NA	nonsynonymous SNV	FAM126A:ENST00000432176.6:exon11:c.T1349G:p.F450C
EGBC3	chr7	23346012	23346012	C	T	IGF2BP3	Missense_Mutation	NM_006547	exon8	c.G869A	p.R290H	SNP	all_mutianno	exonic	IGF2BP3	NA	nonsynonymous SNV	IGF2BP3:NM_006547:exon8:c.G869A:p.R290H	exonic	IGF2BP3	NA	unknown	UNKNOWN
EGBC3	chr7	27130121	27130121	C	A	HOXA4	Missense_Mutation	NM_002141	exon1	c.G613T	p.A205S	SNP	all_mutianno	exonic	HOXA4	NA	nonsynonymous SNV	HOXA4:NM_002141:exon1:c.G613T:p.A205S	exonic	HOXA4	NA	nonsynonymous SNV	HOXA4:ENST00000360046.9:exon1:c.G613T:p.A205S,HOXA4:ENST00000428284.2:exon1:c.G613T:p.A205S,HOXA4:ENST00000610970.1:exon1:c.G613T:p.A205S
EGBC3	chr7	27184592	27184592	C	A	HOXA11	Missense_Mutation	NM_005523	exon1	c.G553T	p.G185C	SNP	all_mutianno	exonic	HOXA11	NA	nonsynonymous SNV	HOXA11:NM_005523:exon1:c.G553T:p.G185C	exonic	HOXA11	NA	nonsynonymous SNV	HOXA11:ENST00000006015.3:exon1:c.G553T:p.G185C
EGBC3	chr7	36154350	36154350	G	A	EEPD1	Missense_Mutation	NM_030636	exon2	c.G26A	p.R9H	SNP	all_mutianno	exonic	EEPD1	NA	nonsynonymous SNV	EEPD1:NM_030636:exon2:c.G26A:p.R9H	exonic	EEPD1	NA	nonsynonymous SNV	EEPD1:ENST00000534978.1:exon3:c.G26A:p.R9H
EGBC3	chr7	45085117	45085117	C	A	NACAD	Missense_Mutation	NM_001146334	exon2	c.G1063T	p.D355Y	SNP	all_mutianno	exonic	NACAD	NA	nonsynonymous SNV	NACAD:NM_001146334:exon2:c.G1063T:p.D355Y	exonic	NACAD	NA	unknown	UNKNOWN
EGBC3	chr7	64219470	64219470	G	T	ZNF735	Missense_Mutation	NM_001159524	exon4	c.G419T	p.G140V	SNP	all_mutianno	exonic	ZNF735	NA	nonsynonymous SNV	ZNF735:NM_001159524:exon4:c.G419T:p.G140V	exonic	ZNF735	NA	nonsynonymous SNV	ZNF735:ENST00000429565.4:exon4:c.G419T:p.G140V
EGBC3	chr7	73671149	73671149	C	T	VPS37D	Missense_Mutation	NM_001077621	exon4	c.C529T	p.R177C	SNP	all_mutianno	exonic	VPS37D	NA	nonsynonymous SNV	VPS37D:NM_001077621:exon4:c.C529T:p.R177C	exonic	VPS37D	NA	nonsynonymous SNV	VPS37D:ENST00000451519.1:exon2:c.C274T:p.R92C
EGBC3	chr7	91973849	91973849	A	T	AKAP9	Missense_Mutation	NM_005751	exon2	c.A187T	p.N63Y	SNP	all_mutianno	exonic	AKAP9	NA	nonsynonymous SNV	AKAP9:NM_005751:exon2:c.A187T:p.N63Y,AKAP9:NM_147185:exon2:c.A187T:p.N63Y	exonic	AKAP9	NA	nonsynonymous SNV	AKAP9:ENST00000356239.7:exon2:c.A187T:p.N63Y,AKAP9:ENST00000358100.6:exon2:c.A187T:p.N63Y,AKAP9:ENST00000394564.5:exon2:c.A187T:p.N63Y,AKAP9:ENST00000359028.6:exon3:c.A220T:p.N74Y,AKAP9:ENST00000619023.4:exon3:c.A211T:p.N71Y
EGBC3	chr7	95528359	95528359	C	A	ASB4	Missense_Mutation	NM_145872	exon3	c.C1034A	p.S345Y	SNP	all_mutianno	exonic	ASB4	NA	nonsynonymous SNV	ASB4:NM_145872:exon3:c.C1034A:p.S345Y	exonic	ASB4	NA	nonsynonymous SNV	ASB4:ENST00000428113.5:exon3:c.C1034A:p.S345Y
EGBC3	chr7	98221665	98221665	C	A	TECPR1	Missense_Mutation	NM_015395	exon23	c.G3153T	p.E1051D	SNP	all_mutianno	exonic	TECPR1	NA	nonsynonymous SNV	TECPR1:NM_015395:exon23:c.G3153T:p.E1051D	exonic	TECPR1	NA	nonsynonymous SNV	TECPR1:ENST00000447648.6:exon23:c.G3153T:p.E1051D
EGBC3	chr7	102348623	102348623	G	T	SPDYE6	Missense_Mutation	NM_001146210	exon6	c.C810A	p.F270L	SNP	all_mutianno	exonic	SPDYE6	NA	nonsynonymous SNV	SPDYE6:NM_001146210:exon6:c.C810A:p.F270L	exonic	SPDYE6	NA	nonsynonymous SNV	SPDYE6:ENST00000563237.2:exon6:c.C810A:p.F270L
EGBC3	chr7	106882192	106882192	A	T	PIK3CG	Missense_Mutation	NM_001282426	exon7	c.A2614T	p.T872S	SNP	all_mutianno	exonic	PIK3CG	NA	nonsynonymous SNV	PIK3CG:NM_001282426:exon7:c.A2614T:p.T872S,PIK3CG:NM_001282427:exon7:c.A2614T:p.T872S,PIK3CG:NM_002649:exon7:c.A2614T:p.T872S	exonic	PIK3CG	NA	nonsynonymous SNV	PIK3CG:ENST00000359195.3:exon7:c.A2614T:p.T872S,PIK3CG:ENST00000440650.6:exon7:c.A2614T:p.T872S
EGBC3	chr7	126533745	126533745	T	G	GRM8	Missense_Mutation	NM_001371087	exon8	c.A1022C	p.Y341S	SNP	all_mutianno	exonic	GRM8	NA	nonsynonymous SNV	GRM8:NM_001371087:exon8:c.A1022C:p.Y341S,GRM8:NM_000845:exon9:c.A1637C:p.Y546S,GRM8:NM_001127323:exon9:c.A1637C:p.Y546S,GRM8:NM_001371084:exon9:c.A1637C:p.Y546S,GRM8:NM_001371085:exon9:c.A1637C:p.Y546S,GRM8:NM_001371086:exon9:c.A1637C:p.Y546S,GRM8:NM_001371083:exon10:c.A1637C:p.Y546S	exonic	GRM8	NA	nonsynonymous SNV	GRM8:ENST00000444921.3:exon1:c.A161C:p.Y54S,GRM8:ENST00000339582.6:exon9:c.A1637C:p.Y546S,GRM8:ENST00000358373.7:exon9:c.A1637C:p.Y546S
EGBC3	chr7	126770048	126770048	G	C	GRM8	Missense_Mutation	NM_001371087	exon6	c.C559G	p.R187G	SNP	all_mutianno	exonic	GRM8	NA	nonsynonymous SNV	GRM8:NM_001371087:exon6:c.C559G:p.R187G,GRM8:NM_000845:exon7:c.C1174G:p.R392G,GRM8:NM_001127323:exon7:c.C1174G:p.R392G,GRM8:NM_001371084:exon7:c.C1174G:p.R392G,GRM8:NM_001371085:exon7:c.C1174G:p.R392G,GRM8:NM_001371086:exon7:c.C1174G:p.R392G,GRM8:NM_001371088:exon7:c.C1174G:p.R392G,GRM8:NM_001371083:exon8:c.C1174G:p.R392G	exonic	GRM8	NA	nonsynonymous SNV	GRM8:ENST00000339582.6:exon7:c.C1174G:p.R392G,GRM8:ENST00000358373.7:exon7:c.C1174G:p.R392G
EGBC3	chr7	128716906	128716906	A	G	FAM71F1	Missense_Mutation	NM_001282788	exon2	c.A343G	p.N115D	SNP	all_mutianno	exonic	FAM71F1	NA	nonsynonymous SNV	FAM71F1:NM_001282788:exon2:c.A343G:p.N115D,FAM71F1:NM_032599:exon2:c.A343G:p.N115D,FAM71F1:NM_001282789:exon3:c.A107G:p.Q36R	exonic	FAM71F1	NA	nonsynonymous SNV	FAM71F1:ENST00000315184.9:exon2:c.A343G:p.N115D,FAM71F1:ENST00000621392.4:exon2:c.A107G:p.Q36R,FAM71F1:ENST00000485070.5:exon3:c.A107G:p.Q36R
EGBC3	chr7	128891006	128891006	C	A	KCP	Missense_Mutation	NM_001366122	exon20	c.G2063T	p.R688L	SNP	all_mutianno	exonic	KCP	NA	nonsynonymous SNV	KCP:NM_001366122:exon20:c.G2063T:p.R688L,KCP:NM_199349:exon20:c.G2063T:p.R688L	exonic	KCP	NA	nonsynonymous SNV	KCP:ENST00000620378.1:exon18:c.G1883T:p.R628L,KCP:ENST00000610776.4:exon20:c.G2063T:p.R688L,KCP:ENST00000613019.4:exon20:c.G2075T:p.R692L
EGBC3	chr7	140459089	140459089	T	C	MKRN1	Missense_Mutation	NM_001145125	exon4	c.A689G	p.Y230C	SNP	all_mutianno	exonic	MKRN1	NA	nonsynonymous SNV	MKRN1:NM_001145125:exon4:c.A689G:p.Y230C,MKRN1:NM_013446:exon4:c.A689G:p.Y230C,MKRN1:NM_001291663:exon6:c.A497G:p.Y166C	exonic	MKRN1	NA	nonsynonymous SNV	MKRN1:ENST00000443720.6:exon4:c.A689G:p.Y230C,MKRN1:ENST00000474576.5:exon4:c.A497G:p.Y166C
EGBC3	chr7	142021702	142021702	C	A	MGAM	Missense_Mutation	NM_001365693	exon6	c.C675A	p.S225R	SNP	all_mutianno	exonic	MGAM	NA	nonsynonymous SNV	MGAM:NM_001365693:exon6:c.C675A:p.S225R,MGAM:NM_004668:exon6:c.C675A:p.S225R	exonic	MGAM	NA	nonsynonymous SNV	MGAM:ENST00000475668.6:exon6:c.C675A:p.S225R,MGAM:ENST00000549489.6:exon6:c.C675A:p.S225R,MGAM:ENST00000620571.1:exon6:c.C675A:p.S225R
EGBC3	chr7	148591043	148591043	C	A	C7orf33	Missense_Mutation	NM_145304	exon1	c.C118A	p.L40M	SNP	all_mutianno	exonic	C7orf33	NA	nonsynonymous SNV	C7orf33:NM_145304:exon1:c.C118A:p.L40M	exonic	C7orf33	NA	unknown	UNKNOWN
EGBC3	chr7	150289592	150289593	GC	G	ACTR3C	Frame_Shift_Del	NM_001164458	exon4	c.154delG	p.A52Qfs*5	DEL	all_mutianno	exonic	ACTR3C	NA	frameshift deletion	ACTR3C:NM_001164458:exon4:c.154delG:p.A52Qfs*5,ACTR3C:NM_001164459:exon4:c.154delG:p.A52Qfs*5	exonic	ACTR3C	NA	frameshift deletion	ACTR3C:ENST00000539352.5:exon3:c.154delG:p.A52Qfs*5,ACTR3C:ENST00000252071.8:exon4:c.154delG:p.A52Qfs*5
EGBC3	chr7	150742285	150742285	G	C	GIMAP1-GIMAP5	Missense_Mutation	NM_018384	exon3	c.G146C	p.G49A	SNP	all_mutianno	exonic	GIMAP1-GIMAP5;GIMAP5	NA	nonsynonymous SNV	GIMAP5:NM_018384:exon3:c.G146C:p.G49A,GIMAP1-GIMAP5:NM_001303630:exon5:c.G374C:p.G125A,GIMAP1-GIMAP5:NM_001199577:exon6:c.G758C:p.G253A	exonic	GIMAP1-GIMAP5;GIMAP5	NA	nonsynonymous SNV	GIMAP5:ENST00000358647.4:exon3:c.G146C:p.G49A,GIMAP5:ENST00000498181.6:exon4:c.G146C:p.G49A,GIMAP1-GIMAP5:ENST00000611999.4:exon6:c.G758C:p.G253A
EGBC3	chr7	150951751	150951751	C	A	KCNH2	Missense_Mutation	NM_001204798	exon3	c.G622T	p.A208S	SNP	all_mutianno	exonic	KCNH2	NA	nonsynonymous SNV	KCNH2:NM_001204798:exon3:c.G622T:p.A208S,KCNH2:NM_172057:exon3:c.G622T:p.A208S,KCNH2:NM_000238:exon7:c.G1642T:p.A548S,KCNH2:NM_172056:exon7:c.G1642T:p.A548S	exonic	KCNH2	NA	nonsynonymous SNV	KCNH2:ENST00000330883.8:exon3:c.G622T:p.A208S,KCNH2:ENST00000262186.9:exon7:c.G1642T:p.A548S,KCNH2:ENST00000430723.4:exon8:c.G1294T:p.A432S
EGBC3	chr7	150955427	150955427	G	T	KCNH2	Missense_Mutation	NM_001204798	exon1	c.C77A	p.A26D	SNP	all_mutianno	exonic	KCNH2	NA	nonsynonymous SNV	KCNH2:NM_001204798:exon1:c.C77A:p.A26D,KCNH2:NM_172057:exon1:c.C77A:p.A26D	exonic	KCNH2	NA	nonsynonymous SNV	KCNH2:ENST00000330883.8:exon1:c.C77A:p.A26D
EGBC3	chr7	151200390	151200390	A	G	IQCA1L	Missense_Mutation	NM_001304419	exon5	c.T710C	p.I237T	SNP	all_mutianno	exonic	IQCA1L	NA	nonsynonymous SNV	IQCA1L:NM_001304419:exon5:c.T710C:p.I237T	exonic	IQCA1L	NA	nonsynonymous SNV	IQCA1L:ENST00000615129.4:exon5:c.T710C:p.I237T
EGBC3	chr7	151400179	151400179	C	G	WDR86	Missense_Mutation	NM_001284260	exon2	c.G226C	p.D76H	SNP	all_mutianno	exonic	WDR86	NA	nonsynonymous SNV	WDR86:NM_001284260:exon2:c.G226C:p.D76H,WDR86:NM_198285:exon2:c.G226C:p.D76H	exonic	WDR86	NA	nonsynonymous SNV	WDR86:ENST00000334493.10:exon2:c.G226C:p.D76H,WDR86:ENST00000469830.2:exon2:c.G226C:p.D76H
EGBC3	chr7	155508899	155508899	A	G	CNPY1	Missense_Mutation	NM_001103176	exon2	c.T139C	p.F47L	SNP	all_mutianno	exonic	CNPY1	NA	nonsynonymous SNV	CNPY1:NM_001103176:exon2:c.T139C:p.F47L,CNPY1:NM_001369814:exon2:c.T139C:p.F47L,CNPY1:NM_001369815:exon2:c.T139C:p.F47L,CNPY1:NM_001369816:exon2:c.T139C:p.F47L,CNPY1:NM_001369818:exon2:c.T547C:p.F183L,CNPY1:NM_001369820:exon2:c.T139C:p.F47L,CNPY1:NM_001369821:exon2:c.T139C:p.F47L,CNPY1:NM_001369813:exon3:c.T406C:p.F136L	exonic	CNPY1	NA	nonsynonymous SNV	CNPY1:ENST00000321736.5:exon2:c.T139C:p.F47L,CNPY1:ENST00000406197.5:exon2:c.T139C:p.F47L,CNPY1:ENST00000636372.1:exon3:c.T298C:p.F100L,CNPY1:ENST00000636446.1:exon3:c.T355C:p.F119L
EGBC3	chr7	157174973	157174973	G	C	UBE3C	Missense_Mutation	NM_014671	exon5	c.G397C	p.D133H	SNP	all_mutianno	exonic	UBE3C	NA	nonsynonymous SNV	UBE3C:NM_014671:exon5:c.G397C:p.D133H	exonic	UBE3C	NA	nonsynonymous SNV	UBE3C:ENST00000389103.4:exon3:c.G268C:p.D90H,UBE3C:ENST00000611269.4:exon4:c.G268C:p.D90H
EGBC3	chr8	22048109	22048109	G	A	FGF17	Missense_Mutation	NM_001304478	exon5	c.G478A	p.E160K	SNP	all_mutianno	exonic	FGF17	NA	nonsynonymous SNV	FGF17:NM_001304478:exon5:c.G478A:p.E160K,FGF17:NM_003867:exon5:c.G511A:p.E171K	exonic	FGF17	NA	nonsynonymous SNV	FGF17:ENST00000518533.5:exon5:c.G478A:p.E160K
EGBC3	chr8	37697566	37697566	G	T	ZNF703	Missense_Mutation	NM_025069	exon2	c.G665T	p.R222L	SNP	all_mutianno	exonic	ZNF703	NA	nonsynonymous SNV	ZNF703:NM_025069:exon2:c.G665T:p.R222L	exonic	ZNF703	NA	unknown	UNKNOWN
EGBC3	chr8	47821765	47821765	C	A	PRKDC	Missense_Mutation	NM_001081640	exon65	c.G8950T	p.G2984C	SNP	all_mutianno	exonic	PRKDC	NA	nonsynonymous SNV	PRKDC:NM_001081640:exon65:c.G8950T:p.G2984C,PRKDC:NM_006904:exon65:c.G8950T:p.G2984C	exonic	PRKDC	NA	nonsynonymous SNV	PRKDC:ENST00000314191.6:exon65:c.G8950T:p.G2984C,PRKDC:ENST00000338368.7:exon65:c.G8950T:p.G2984C
EGBC3	chr8	90631566	90631566	C	A	TMEM64	Missense_Mutation	NM_001008495	exon2	c.G937T	p.V313F	SNP	all_mutianno	exonic	TMEM64	NA	nonsynonymous SNV	TMEM64:NM_001008495:exon2:c.G937T:p.V313F	exonic	TMEM64	NA	nonsynonymous SNV	TMEM64:ENST00000519519.5:exon5:c.G154T:p.V52F
EGBC3	chr8	90917519	90917519	C	A	NECAB1	Missense_Mutation	NM_022351	exon6	c.C385A	p.Q129K	SNP	all_mutianno	exonic	NECAB1	NA	nonsynonymous SNV	NECAB1:NM_022351:exon6:c.C385A:p.Q129K	exonic	NECAB1	NA	unknown	UNKNOWN
EGBC3	chr8	104148764	104148764	C	T	RIMS2	Missense_Mutation	NM_001348498	exon20	c.C3175T	p.R1059W	SNP	all_mutianno	exonic	RIMS2	NA	nonsynonymous SNV	RIMS2:NM_001348498:exon20:c.C3175T:p.R1059W,RIMS2:NM_001348501:exon20:c.C3028T:p.R1010W,RIMS2:NM_001348503:exon20:c.C3175T:p.R1059W,RIMS2:NM_001348509:exon22:c.C3271T:p.R1091W,RIMS2:NM_001348490:exon23:c.C3763T:p.R1255W,RIMS2:NM_001348489:exon24:c.C3850T:p.R1284W,RIMS2:NM_001348484:exon25:c.C4024T:p.R1342W	exonic	RIMS2	NA	nonsynonymous SNV	RIMS2:ENST00000436393.6:exon23:c.C3304T:p.R1102W
EGBC3	chr8	109518203	109518203	G	A	PKHD1L1	Missense_Mutation	NM_177531	exon73	c.G11726A	p.G3909D	SNP	all_mutianno	exonic	PKHD1L1	NA	nonsynonymous SNV	PKHD1L1:NM_177531:exon73:c.G11726A:p.G3909D	exonic	PKHD1L1	NA	unknown	UNKNOWN
EGBC3	chr8	123956054	123956054	T	C	FER1L6	Missense_Mutation	NM_001039112	exon2	c.T56C	p.L19P	SNP	all_mutianno	exonic	FER1L6	NA	nonsynonymous SNV	FER1L6:NM_001039112:exon2:c.T56C:p.L19P	exonic	FER1L6	NA	nonsynonymous SNV	FER1L6:ENST00000522917.5:exon2:c.T56C:p.L19P
EGBC3	chr8	132044471	132044471	C	A	OC90	Missense_Mutation	NM_001080399	exon4	c.G131T	p.G44V	SNP	all_mutianno	exonic	OC90	NA	nonsynonymous SNV	OC90:NM_001080399:exon4:c.G131T:p.G44V	exonic	OC90;RP11-240B13.2	NA	nonsynonymous SNV	RP11-240B13.2:ENST00000262283.5:exon7:c.G719T:p.G240V
EGBC3	chr8	138197516	138197516	C	A	FAM135B	Nonsense_Mutation	NM_001362965	exon8	c.G823T	p.E275X	SNP	all_mutianno	exonic	FAM135B	NA	stopgain	FAM135B:NM_001362965:exon8:c.G823T:p.E275X,FAM135B:NM_015912:exon8:c.G823T:p.E275X	exonic	FAM135B	NA	unknown	UNKNOWN
EGBC3	chr8	142703253	142703253	C	T	LY6K	Missense_Mutation	NM_017527	exon3	c.C380T	p.P127L	SNP	all_mutianno	exonic	LY6K	NA	nonsynonymous SNV	LY6K:NM_017527:exon3:c.C380T:p.P127L	exonic	LY6K	NA	nonsynonymous SNV	LY6K:ENST00000292430.10:exon3:c.C380T:p.P127L
EGBC3	chr9	21201973	21201973	C	A	IFNA7	Nonsense_Mutation	NM_021057	exon1	c.G193T	p.E65X	SNP	all_mutianno	exonic	IFNA7	NA	stopgain	IFNA7:NM_021057:exon1:c.G193T:p.E65X	exonic	IFNA7	NA	stopgain	IFNA7:ENST00000239347.3:exon1:c.G193T:p.E65X
EGBC3	chr9	35091950	35091950	G	A	PIGO	Missense_Mutation	NM_032634	exon7	c.C1937T	p.P646L	SNP	all_mutianno	exonic	PIGO	NA	nonsynonymous SNV	PIGO:NM_032634:exon7:c.C1937T:p.P646L	exonic	PIGO	NA	nonsynonymous SNV	PIGO:ENST00000378617.3:exon7:c.C1937T:p.P646L
EGBC3	chr9	37002722	37002722	G	T	PAX5	Nonsense_Mutation	NM_001280551	exon4	c.C206A	p.S69X	SNP	all_mutianno	exonic	PAX5	NA	stopgain	PAX5:NM_001280551:exon4:c.C206A:p.S69X,PAX5:NM_001280555:exon4:c.C332A:p.S111X,PAX5:NM_001280556:exon4:c.C206A:p.S69X,PAX5:NM_001280547:exon5:c.C530A:p.S177X,PAX5:NM_001280548:exon5:c.C530A:p.S177X,PAX5:NM_001280549:exon5:c.C530A:p.S177X,PAX5:NM_001280550:exon5:c.C530A:p.S177X,PAX5:NM_001280552:exon5:c.C530A:p.S177X,PAX5:NM_016734:exon5:c.C530A:p.S177X	exonic	PAX5	NA	stopgain	PAX5:ENST00000446742.5:exon4:c.C332A:p.S111X,PAX5:ENST00000522003.5:exon4:c.C206A:p.S69X,PAX5:ENST00000523145.5:exon4:c.C206A:p.S69X,PAX5:ENST00000377847.6:exon5:c.C530A:p.S177X,PAX5:ENST00000377853.6:exon5:c.C530A:p.S177X
EGBC3	chr9	104505047	104505047	C	A	OR13F1	Missense_Mutation	NM_001004485	exon1	c.C785A	p.P262H	SNP	all_mutianno	exonic	OR13F1	NA	nonsynonymous SNV	OR13F1:NM_001004485:exon1:c.C785A:p.P262H	exonic	OR13F1	NA	nonsynonymous SNV	OR13F1:ENST00000334726.3:exon1:c.C785A:p.P262H
EGBC3	chr9	110465975	110465975	G	T	SVEP1	Nonsense_Mutation	NM_153366	exon18	c.C3212A	p.S1071X	SNP	all_mutianno	exonic	SVEP1	NA	stopgain	SVEP1:NM_153366:exon18:c.C3212A:p.S1071X	exonic	SVEP1	NA	stopgain	SVEP1:ENST00000401783.6:exon18:c.C3212A:p.S1071X
EGBC3	chr9	113594059	113594059	C	T	RGS3	Missense_Mutation	NM_144489	exon1	c.C140T	p.P47L	SNP	all_mutianno	exonic	RGS3	NA	nonsynonymous SNV	RGS3:NM_144489:exon1:c.C140T:p.P47L	exonic	RGS3	NA	nonsynonymous SNV	RGS3:ENST00000462403.5:exon1:c.C140T:p.P47L,RGS3:ENST00000613049.4:exon1:c.C140T:p.P47L
EGBC3	chr9	130394477	130394477	C	A	HMCN2	Missense_Mutation	NM_001291815	exon69	c.C10594A	p.P3532T	SNP	all_mutianno	exonic	HMCN2	NA	nonsynonymous SNV	HMCN2:NM_001291815:exon69:c.C10594A:p.P3532T	exonic	HMCN2	NA	nonsynonymous SNV	HMCN2:ENST00000624552.3:exon69:c.C10591A:p.P3531T
EGBC3	chr9	130394478	130394478	C	A	HMCN2	Missense_Mutation	NM_001291815	exon69	c.C10595A	p.P3532H	SNP	all_mutianno	exonic	HMCN2	NA	nonsynonymous SNV	HMCN2:NM_001291815:exon69:c.C10595A:p.P3532H	exonic	HMCN2	NA	nonsynonymous SNV	HMCN2:ENST00000624552.3:exon69:c.C10592A:p.P3531H
EGBC3	chr10	1363590	1363590	G	T	ADARB2	Missense_Mutation	NM_018702	exon3	c.C515A	p.P172H	SNP	all_mutianno	exonic	ADARB2	NA	nonsynonymous SNV	ADARB2:NM_018702:exon3:c.C515A:p.P172H	exonic	ADARB2	NA	unknown	UNKNOWN
EGBC3	chr10	11489216	11489216	C	A	USP6NL	Missense_Mutation	NM_001080491	exon9	c.G601T	p.G201W	SNP	all_mutianno	exonic	USP6NL	NA	nonsynonymous SNV	USP6NL:NM_001080491:exon9:c.G601T:p.G201W,USP6NL:NM_014688:exon10:c.G550T:p.G184W	exonic	USP6NL	NA	nonsynonymous SNV	USP6NL:ENST00000277575.5:exon9:c.G601T:p.G201W,USP6NL:ENST00000379237.6:exon9:c.G619T:p.G207W,USP6NL:ENST00000609104.5:exon10:c.G550T:p.G184W
EGBC3	chr10	19146236	19146236	G	T	MALRD1	Missense_Mutation	NM_001142308	exon11	c.G1450T	p.G484C	SNP	all_mutianno	exonic	MALRD1	NA	nonsynonymous SNV	MALRD1:NM_001142308:exon11:c.G1450T:p.G484C	exonic	MALRD1	NA	unknown	UNKNOWN
EGBC3	chr10	19692548	19692548	C	T	MALRD1	Missense_Mutation	NM_001142308	exon38	c.C6308T	p.P2103L	SNP	all_mutianno	exonic	MALRD1	NA	nonsynonymous SNV	MALRD1:NM_001142308:exon38:c.C6308T:p.P2103L	exonic	MALRD1	NA	unknown	UNKNOWN
EGBC3	chr10	22003235	22003235	T	C	DNAJC1	Missense_Mutation	NM_022365	exon1	c.A200G	p.Y67C	SNP	all_mutianno	exonic	DNAJC1	NA	nonsynonymous SNV	DNAJC1:NM_022365:exon1:c.A200G:p.Y67C	exonic	DNAJC1	NA	unknown	UNKNOWN
EGBC3	chr10	26219225	26219225	G	T	GAD2	Nonsense_Mutation	NM_000818	exon4	c.G469T	p.E157X	SNP	all_mutianno	exonic	GAD2	NA	stopgain	GAD2:NM_000818:exon4:c.G469T:p.E157X,GAD2:NM_001134366:exon4:c.G469T:p.E157X	exonic	GAD2	NA	stopgain	GAD2:ENST00000259271.7:exon4:c.G469T:p.E157X
EGBC3	chr10	30459358	30459358	C	T	MAP3K8	Missense_Mutation	NM_001244134	exon7	c.C1130T	p.P377L	SNP	all_mutianno	exonic	MAP3K8	NA	nonsynonymous SNV	MAP3K8:NM_001244134:exon7:c.C1130T:p.P377L,MAP3K8:NM_001320961:exon7:c.C1130T:p.P377L,MAP3K8:NM_005204:exon8:c.C1130T:p.P377L	exonic	MAP3K8	NA	nonsynonymous SNV	MAP3K8:ENST00000375321.1:exon6:c.C1130T:p.P377L,MAP3K8:ENST00000542547.5:exon7:c.C1130T:p.P377L
EGBC3	chr10	47309982	47309983	GC	G	GDF10	Frame_Shift_Del	NM_004962	exon2	c.507delC	p.Q170Sfs*76	DEL	all_mutianno	exonic	GDF10	NA	frameshift deletion	GDF10:NM_004962:exon2:c.507delC:p.Q170Sfs*76	exonic	GDF10	NA	unknown	UNKNOWN
EGBC3	chr10	68306769	68306769	G	T	PBLD	Missense_Mutation	NM_001033083	exon2	c.C76A	p.L26I	SNP	all_mutianno	exonic	PBLD	NA	nonsynonymous SNV	PBLD:NM_001033083:exon2:c.C76A:p.L26I,PBLD:NM_022129:exon2:c.C76A:p.L26I	exonic	PBLD	NA	nonsynonymous SNV	PBLD:ENST00000309049.8:exon2:c.C76A:p.L26I,PBLD:ENST00000495025.2:exon2:c.C76A:p.L26I
EGBC3	chr10	68383857	68383858	GC	G	RUFY2	Nonsense_Mutation	NM_001042417	exon9	c.777delG	p.L260*	DEL	all_mutianno	exonic	RUFY2	NA	stopgain	RUFY2:NM_001042417:exon9:c.777delG:p.L260*,RUFY2:NM_001278225:exon9:c.705delG:p.L236*,RUFY2:NM_001330103:exon10:c.879delG:p.L294*,RUFY2:NM_017987:exon10:c.984delG:p.L329*	exonic	RUFY2	NA	stopgain	RUFY2:ENST00000454950.6:exon9:c.705delG:p.L236*,RUFY2:ENST00000388768.6:exon10:c.984delG:p.L329*,RUFY2:ENST00000602465.5:exon10:c.879delG:p.L294*
EGBC3	chr10	93662104	93662104	G	A	PDE6C	Missense_Mutation	NM_006204	exon19	c.G2254A	p.E752K	SNP	all_mutianno	exonic	PDE6C	NA	nonsynonymous SNV	PDE6C:NM_006204:exon19:c.G2254A:p.E752K	exonic	PDE6C	NA	nonsynonymous SNV	PDE6C:ENST00000371447.3:exon19:c.G2254A:p.E752K
EGBC3	chr10	97066036	97066036	C	A	SLIT1	Missense_Mutation	NM_003061	exon5	c.G464T	p.G155V	SNP	all_mutianno	exonic	SLIT1	NA	nonsynonymous SNV	SLIT1:NM_003061:exon5:c.G464T:p.G155V	exonic	SLIT1	NA	nonsynonymous SNV	SLIT1:ENST00000371041.3:exon5:c.G464T:p.G155V,SLIT1:ENST00000371070.8:exon5:c.G464T:p.G155V
EGBC3	chr10	116675197	116675197	C	A	HSPA12A	Missense_Mutation	NM_025015	exon12	c.G1612T	p.G538W	SNP	all_mutianno	exonic	HSPA12A	NA	nonsynonymous SNV	HSPA12A:NM_025015:exon12:c.G1612T:p.G538W,HSPA12A:NM_001330164:exon13:c.G1663T:p.G555W	exonic	HSPA12A	NA	nonsynonymous SNV	HSPA12A:ENST00000369209.7:exon12:c.G1612T:p.G538W,HSPA12A:ENST00000635765.1:exon13:c.G1663T:p.G555W
EGBC3	chr10	119677282	119677282	G	C	BAG3	Nonstop_Mutation	NM_004281	exon4	c.G1728C	p.X576Y	SNP	all_mutianno	exonic	BAG3	NA	stoploss	BAG3:NM_004281:exon4:c.G1728C:p.X576Y	exonic	BAG3	NA	stoploss	BAG3:ENST00000369085.7:exon4:c.G1728C:p.X576Y
EGBC3	chr10	122643300	122643300	T	A	DMBT1	Missense_Mutation	NM_004406	exon40	c.T5260A	p.S1754T	SNP	all_mutianno	exonic	DMBT1	NA	nonsynonymous SNV	DMBT1:NM_004406:exon40:c.T5260A:p.S1754T,DMBT1:NM_017579:exon52:c.T7114A:p.S2372T,DMBT1:NM_001320644:exon53:c.T7141A:p.S2381T,DMBT1:NM_007329:exon53:c.T7144A:p.S2382T,DMBT1:NM_001377530:exon56:c.T7531A:p.S2511T	exonic	DMBT1	NA	nonsynonymous SNV	DMBT1:ENST00000330163.8:exon40:c.T5260A:p.S1754T,DMBT1:ENST00000368956.6:exon40:c.T5260A:p.S1754T,DMBT1:ENST00000344338.7:exon52:c.T7114A:p.S2372T,DMBT1:ENST00000368955.7:exon52:c.T7114A:p.S2372T,DMBT1:ENST00000368909.7:exon53:c.T7144A:p.S2382T,DMBT1:ENST00000619379.1:exon53:c.T7144A:p.S2382T
EGBC3	chr10	133528602	133528602	G	T	CYP2E1	Missense_Mutation	NM_000773	exon2	c.G299T	p.R100I	SNP	all_mutianno	exonic	CYP2E1	NA	nonsynonymous SNV	CYP2E1:NM_000773:exon2:c.G299T:p.R100I	exonic	CYP2E1	NA	nonsynonymous SNV	CYP2E1:ENST00000463117.6:exon4:c.G299T:p.R100I
EGBC3	chr10	133555986	133555986	T	A	SYCE1	Missense_Mutation	NM_001143763	exon9	c.A590T	p.K197M	SNP	all_mutianno	exonic	SYCE1	NA	nonsynonymous SNV	SYCE1:NM_001143763:exon9:c.A590T:p.K197M,SYCE1:NM_001143764:exon9:c.A590T:p.K197M,SYCE1:NM_130784:exon9:c.A482T:p.K161M	exonic	SYCE1	NA	nonsynonymous SNV	SYCE1:ENST00000303903.10:exon9:c.A590T:p.K197M,SYCE1:ENST00000368517.7:exon9:c.A482T:p.K161M
EGBC3	chr11	1164280	1164280	G	T	MUC5AC	Missense_Mutation	NM_001304359	exon8	c.G964T	p.G322W	SNP	all_mutianno	exonic	MUC5AC	NA	nonsynonymous SNV	MUC5AC:NM_001304359:exon8:c.G964T:p.G322W	exonic	MUC5AC	NA	nonsynonymous SNV	MUC5AC:ENST00000621226.2:exon8:c.G964T:p.G322W
EGBC3	chr11	1191947	1191947	C	A	MUC5AC	Missense_Mutation	NM_001304359	exon31	c.C13802A	p.T4601K	SNP	all_mutianno	exonic	MUC5AC	NA	nonsynonymous SNV	MUC5AC:NM_001304359:exon31:c.C13802A:p.T4601K	exonic	MUC5AC	NA	nonsynonymous SNV	MUC5AC:ENST00000621226.2:exon31:c.C13802A:p.T4601K
EGBC3	chr11	1247245	1247245	C	A	MUC5B	Missense_Mutation	NM_002458	exon31	c.C10365A	p.H3455Q	SNP	all_mutianno	exonic	MUC5B	NA	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C10365A:p.H3455Q	exonic	MUC5B	NA	nonsynonymous SNV	MUC5B:ENST00000529681.5:exon31:c.C10365A:p.H3455Q
EGBC3	chr11	5352242	5352242	C	A	OR51B6	Nonsense_Mutation	NM_001004750	exon1	c.C735A	p.C245X	SNP	all_mutianno	exonic	OR51B6	NA	stopgain	OR51B6:NM_001004750:exon1:c.C735A:p.C245X	exonic	OR51B6	NA	stopgain	OR51B6:ENST00000380219.1:exon1:c.C735A:p.C245X
EGBC3	chr11	6498771	6498771	C	T	DNHD1	Nonsense_Mutation	NM_173589	exon2	c.C556T	p.R186X	SNP	all_mutianno	exonic	DNHD1	NA	stopgain	DNHD1:NM_173589:exon2:c.C556T:p.R186X,DNHD1:NM_144666:exon3:c.C556T:p.R186X	exonic	DNHD1	NA	stopgain	DNHD1:ENST00000527990.6:exon1:c.C556T:p.R186X,DNHD1:ENST00000354685.7:exon2:c.C556T:p.R186X,DNHD1:ENST00000254579.10:exon3:c.C556T:p.R186X
EGBC3	chr11	6640623	6640623	C	A	DCHS1	Missense_Mutation	NM_003737	exon2	c.G991T	p.V331L	SNP	all_mutianno	exonic	DCHS1	NA	nonsynonymous SNV	DCHS1:NM_003737:exon2:c.G991T:p.V331L	exonic	DCHS1	NA	unknown	UNKNOWN
EGBC3	chr11	17634886	17634887	GC	G	OTOG	Frame_Shift_Del	NM_001277269	exon44	c.7560delC	p.P2521Qfs*41	DEL	all_mutianno	exonic	OTOG	NA	frameshift deletion	OTOG:NM_001277269:exon44:c.7560delC:p.P2521Qfs*41,OTOG:NM_001292063:exon45:c.7524delC:p.P2509Qfs*41	exonic	OTOG	NA	frameshift deletion	OTOG:ENST00000399391.6:exon44:c.7560delC:p.P2521Qfs*41,OTOG:ENST00000399397.5:exon45:c.7524delC:p.P2509Qfs*41
EGBC3	chr11	17720936	17720936	G	T	MYOD1	Missense_Mutation	NM_002478	exon2	c.G665T	p.R222L	SNP	all_mutianno	exonic	MYOD1	NA	nonsynonymous SNV	MYOD1:NM_002478:exon2:c.G665T:p.R222L	exonic	MYOD1	NA	unknown	UNKNOWN
EGBC3	chr11	18934052	18934052	C	A	MRGPRX1	Missense_Mutation	NM_147199	exon1	c.G733T	p.D245Y	SNP	all_mutianno	exonic	MRGPRX1	NA	nonsynonymous SNV	MRGPRX1:NM_147199:exon1:c.G733T:p.D245Y	exonic	MRGPRX1	NA	nonsynonymous SNV	MRGPRX1:ENST00000302797.4:exon1:c.G733T:p.D245Y
EGBC3	chr11	20928477	20928477	G	T	NELL1	Missense_Mutation	NM_001288714	exon8	c.G824T	p.R275L	SNP	all_mutianno	exonic	NELL1	NA	nonsynonymous SNV	NELL1:NM_001288714:exon8:c.G824T:p.R275L,NELL1:NM_006157:exon9:c.G995T:p.R332L,NELL1:NM_201551:exon9:c.G995T:p.R332L,NELL1:NM_001288713:exon10:c.G1079T:p.R360L	exonic	NELL1	NA	nonsynonymous SNV	NELL1:ENST00000325319.9:exon8:c.G824T:p.R275L,NELL1:ENST00000357134.9:exon9:c.G995T:p.R332L,NELL1:ENST00000532434.5:exon9:c.G995T:p.R332L,NELL1:ENST00000298925.9:exon10:c.G1079T:p.R360L
EGBC3	chr11	22250752	22250752	G	C	ANO5	Missense_Mutation	NM_001142649	exon11	c.G1022C	p.C341S	SNP	all_mutianno	exonic	ANO5	NA	nonsynonymous SNV	ANO5:NM_001142649:exon11:c.G1022C:p.C341S,ANO5:NM_213599:exon11:c.G1025C:p.C342S	exonic	ANO5	NA	nonsynonymous SNV	ANO5:ENST00000324559.8:exon11:c.G1025C:p.C342S
EGBC3	chr11	22270358	22270358	G	A	ANO5	Missense_Mutation	NM_001142649	exon18	c.G1942A	p.E648K	SNP	all_mutianno	exonic	ANO5	NA	nonsynonymous SNV	ANO5:NM_001142649:exon18:c.G1942A:p.E648K,ANO5:NM_213599:exon18:c.G1945A:p.E649K	exonic	ANO5	NA	nonsynonymous SNV	ANO5:ENST00000324559.8:exon18:c.G1945A:p.E649K
EGBC3	chr11	22374809	22374809	G	T	SLC17A6	Missense_Mutation	NM_020346	exon9	c.G1096T	p.G366W	SNP	all_mutianno	exonic	SLC17A6	NA	nonsynonymous SNV	SLC17A6:NM_020346:exon9:c.G1096T:p.G366W	exonic	SLC17A6	NA	nonsynonymous SNV	SLC17A6:ENST00000263160.3:exon9:c.G1096T:p.G366W
EGBC3	chr11	55269335	55269335	C	G	TRIM48	Missense_Mutation	NM_024114	exon5	c.C672G	p.F224L	SNP	all_mutianno	exonic	TRIM48	NA	nonsynonymous SNV	TRIM48:NM_024114:exon5:c.C672G:p.F224L	exonic	TRIM48	NA	nonsynonymous SNV	TRIM48:ENST00000417545.4:exon5:c.C672G:p.F224L
EGBC3	chr11	56417607	56417607	G	T	OR5R1	Missense_Mutation	NM_001004744	exon1	c.C626A	p.S209Y	SNP	all_mutianno	exonic	OR5R1	NA	nonsynonymous SNV	OR5R1:NM_001004744:exon1:c.C626A:p.S209Y	exonic	OR5R1	NA	nonsynonymous SNV	OR5R1:ENST00000623286.1:exon1:c.C626A:p.S209Y
EGBC3	chr11	57330338	57330338	C	A	SSRP1	Missense_Mutation	NM_003146	exon11	c.G1388T	p.R463L	SNP	all_mutianno	exonic	SSRP1	NA	nonsynonymous SNV	SSRP1:NM_003146:exon11:c.G1388T:p.R463L	exonic	SSRP1	NA	unknown	UNKNOWN
EGBC3	chr11	57379755	57379755	C	A	PRG3	Missense_Mutation	NM_006093	exon3	c.G114T	p.Q38H	SNP	all_mutianno	exonic	PRG3	NA	nonsynonymous SNV	PRG3:NM_006093:exon3:c.G114T:p.Q38H	exonic	PRG3	NA	nonsynonymous SNV	PRG3:ENST00000287143.2:exon3:c.G114T:p.Q38H
EGBC3	chr11	62787020	62787034	CGGGGCACCCCGGCA	C	TAF6L	Frame_Shift_Del	NM_006473	exon11	c.1594_1607del	p.G532Afs*53	DEL	all_mutianno	exonic	TAF6L	NA	frameshift deletion	TAF6L:NM_006473:exon11:c.1594_1607del:p.G532Afs*53	exonic	TAF6L	NA	unknown	UNKNOWN
EGBC3	chr11	65883378	65883378	C	A	CTSW	Missense_Mutation	NM_001335	exon9	c.C974A	p.P325Q	SNP	all_mutianno	exonic	CTSW	NA	nonsynonymous SNV	CTSW:NM_001335:exon9:c.C974A:p.P325Q	exonic	CTSW	NA	nonsynonymous SNV	CTSW:ENST00000528419.5:exon9:c.C974A:p.P325Q
EGBC3	chr11	68738787	68738788	AG	A	TESMIN	Frame_Shift_Del	NM_001039656	exon6	c.829delC	p.E278Rfs*7	DEL	all_mutianno	exonic	TESMIN	NA	frameshift deletion	TESMIN:NM_001039656:exon6:c.829delC:p.E278Rfs*7,TESMIN:NM_004923:exon6:c.829delC:p.E278Rfs*7	exonic	TESMIN	NA	frameshift deletion	TESMIN:ENST00000443940.6:exon5:c.752delC:p.A251Vfs*31,TESMIN:ENST00000544963.1:exon6:c.829delC:p.E278Rfs*7
EGBC3	chr11	70104021	70104021	G	T	ANO1	Missense_Mutation	NM_001378097	exon3	c.G464T	p.R155L	SNP	all_mutianno	exonic	ANO1	NA	nonsynonymous SNV	ANO1:NM_001378097:exon3:c.G464T:p.R155L,ANO1:NM_001378094:exon4:c.G563T:p.R188L,ANO1:NM_001378095:exon4:c.G563T:p.R188L,ANO1:NM_001378096:exon4:c.G563T:p.R188L,ANO1:NM_018043:exon4:c.G563T:p.R188L,ANO1:NM_001378092:exon5:c.G686T:p.R229L,ANO1:NM_001378093:exon5:c.G563T:p.R188L	exonic	ANO1	NA	nonsynonymous SNV	ANO1:ENST00000316296.9:exon4:c.G479T:p.R160L,ANO1:ENST00000355303.9:exon4:c.G563T:p.R188L,ANO1:ENST00000530676.5:exon4:c.G215T:p.R72L
EGBC3	chr11	71538120	71538120	G	T	KRTAP5-8	Missense_Mutation	NM_021046	exon1	c.G65T	p.G22V	SNP	all_mutianno	exonic	KRTAP5-8	NA	nonsynonymous SNV	KRTAP5-8:NM_021046:exon1:c.G65T:p.G22V	exonic	KRTAP5-8	NA	nonsynonymous SNV	KRTAP5-8:ENST00000398534.3:exon1:c.G65T:p.G22V
EGBC3	chr11	89047609	89047609	G	T	GRM5	Missense_Mutation	NM_000842	exon2	c.C264A	p.N88K	SNP	all_mutianno	exonic	GRM5	NA	nonsynonymous SNV	GRM5:NM_000842:exon2:c.C264A:p.N88K,GRM5:NM_001143831:exon2:c.C264A:p.N88K,GRM5:NM_001384268:exon2:c.C264A:p.N88K	exonic	GRM5	NA	nonsynonymous SNV	GRM5:ENST00000305432.9:exon1:c.C264A:p.N88K,GRM5:ENST00000305447.4:exon1:c.C264A:p.N88K,GRM5:ENST00000393294.3:exon2:c.C264A:p.N88K,GRM5:ENST00000455756.6:exon2:c.C264A:p.N88K
EGBC3	chr11	94795110	94795110	A	T	AMOTL1	Missense_Mutation	NM_130847	exon2	c.A149T	p.E50V	SNP	all_mutianno	exonic	AMOTL1	NA	nonsynonymous SNV	AMOTL1:NM_130847:exon2:c.A149T:p.E50V	exonic	AMOTL1	NA	unknown	UNKNOWN
EGBC3	chr11	102770851	102770851	T	G	MMP10	Missense_Mutation	NM_002425	exon10	c.A1373C	p.D458A	SNP	all_mutianno	exonic	MMP10	NA	nonsynonymous SNV	MMP10:NM_002425:exon10:c.A1373C:p.D458A	exonic	MMP10	NA	unknown	UNKNOWN
EGBC3	chr11	113700141	113700141	T	A	TMPRSS5	Missense_Mutation	NM_001288752	exon2	c.A31T	p.M11L	SNP	all_mutianno	exonic	TMPRSS5	NA	nonsynonymous SNV	TMPRSS5:NM_001288752:exon2:c.A31T:p.M11L,TMPRSS5:NM_030770:exon2:c.A31T:p.M11L	exonic	TMPRSS5	NA	nonsynonymous SNV	TMPRSS5:ENST00000544634.5:exon2:c.A31T:p.M11L
EGBC3	chr11	118471841	118471841	T	G	KMT2A	Missense_Mutation	NM_001197104	exon3	c.T682G	p.F228V	SNP	all_mutianno	exonic	KMT2A	NA	nonsynonymous SNV	KMT2A:NM_001197104:exon3:c.T682G:p.F228V,KMT2A:NM_005933:exon3:c.T682G:p.F228V	exonic	KMT2A	NA	unknown	UNKNOWN
EGBC3	chr11	123753728	123753728	G	T	OR6X1	Missense_Mutation	NM_001005188	exon1	c.C791A	p.S264Y	SNP	all_mutianno	exonic	OR6X1	NA	nonsynonymous SNV	OR6X1:NM_001005188:exon1:c.C791A:p.S264Y	exonic	OR6X1	NA	nonsynonymous SNV	OR6X1:ENST00000327930.2:exon1:c.C791A:p.S264Y
EGBC3	chr11	124611681	124611681	C	T	PANX3	Missense_Mutation	NM_052959	exon1	c.C125T	p.A42V	SNP	all_mutianno	exonic	PANX3	NA	nonsynonymous SNV	PANX3:NM_052959:exon1:c.C125T:p.A42V	exonic	PANX3	NA	nonsynonymous SNV	PANX3:ENST00000284288.2:exon1:c.C125T:p.A42V
EGBC3	chr12	6672369	6672369	G	A	ZNF384	Missense_Mutation	NM_001135734	exon8	c.C1075T	p.H359Y	SNP	all_mutianno	exonic	ZNF384	NA	nonsynonymous SNV	ZNF384:NM_001135734:exon8:c.C1075T:p.H359Y	exonic	ZNF384	NA	nonsynonymous SNV	ZNF384:ENST00000361959.7:exon8:c.C1075T:p.H359Y,ZNF384:ENST00000396801.7:exon8:c.C1075T:p.H359Y
EGBC3	chr12	7794515	7794515	G	A	NANOG	Nonsense_Mutation	NM_001297698	exon3	c.G473A	p.W158X	SNP	all_mutianno	exonic	NANOG	NA	stopgain	NANOG:NM_001297698:exon3:c.G473A:p.W158X,NANOG:NM_024865:exon3:c.G473A:p.W158X	exonic	NANOG	NA	stopgain	NANOG:ENST00000526286.1:exon3:c.G473A:p.W158X
EGBC3	chr12	9203910	9203910	G	T	PZP	Missense_Mutation	NM_002864	exon2	c.C125A	p.A42D	SNP	all_mutianno	exonic	PZP	NA	nonsynonymous SNV	PZP:NM_002864:exon2:c.C125A:p.A42D	exonic	PZP	NA	unknown	UNKNOWN
EGBC3	chr12	9203911	9203911	C	A	PZP	Missense_Mutation	NM_002864	exon2	c.G124T	p.A42S	SNP	all_mutianno	exonic	PZP	NA	nonsynonymous SNV	PZP:NM_002864:exon2:c.G124T:p.A42S	exonic	PZP	NA	unknown	UNKNOWN
EGBC3	chr12	25245351	25245351	C	A	KRAS	Missense_Mutation	NM_001369786	exon2	c.G34T	p.G12C	SNP	all_mutianno	exonic	KRAS	NA	nonsynonymous SNV	KRAS:NM_001369786:exon2:c.G34T:p.G12C,KRAS:NM_001369787:exon2:c.G34T:p.G12C,KRAS:NM_004985:exon2:c.G34T:p.G12C,KRAS:NM_033360:exon2:c.G34T:p.G12C	exonic	KRAS	NA	nonsynonymous SNV	KRAS:ENST00000256078.8:exon2:c.G34T:p.G12C,KRAS:ENST00000311936.7:exon2:c.G34T:p.G12C,KRAS:ENST00000556131.1:exon2:c.G34T:p.G12C,KRAS:ENST00000557334.5:exon2:c.G34T:p.G12C
EGBC3	chr12	30632008	30632008	A	C	IPO8	Missense_Mutation	NM_001190995	exon20	c.T2288G	p.V763G	SNP	all_mutianno	exonic	IPO8	NA	nonsynonymous SNV	IPO8:NM_001190995:exon20:c.T2288G:p.V763G,IPO8:NM_006390:exon24:c.T2903G:p.V968G	exonic	IPO8	NA	nonsynonymous SNV	IPO8:ENST00000544829.5:exon20:c.T2288G:p.V763G
EGBC3	chr12	30661146	30661146	T	A	IPO8	Nonsense_Mutation	NM_001190995	exon12	c.A1261T	p.K421X	SNP	all_mutianno	exonic	IPO8	NA	stopgain	IPO8:NM_001190995:exon12:c.A1261T:p.K421X,IPO8:NM_006390:exon16:c.A1876T:p.K626X	exonic	IPO8	NA	stopgain	IPO8:ENST00000544829.5:exon12:c.A1261T:p.K421X
EGBC3	chr12	45331422	45331422	G	T	ANO6	Missense_Mutation	NM_001025356	exon3	c.G278T	p.R93M	SNP	all_mutianno	exonic	ANO6	NA	nonsynonymous SNV	ANO6:NM_001025356:exon3:c.G278T:p.R93M,ANO6:NM_001142678:exon3:c.G224T:p.R75M,ANO6:NM_001142679:exon3:c.G278T:p.R93M,ANO6:NM_001204803:exon4:c.G341T:p.R114M	exonic	ANO6	NA	nonsynonymous SNV	ANO6:ENST00000425752.6:exon3:c.G278T:p.R93M,ANO6:ENST00000441606.2:exon3:c.G224T:p.R75M,ANO6:ENST00000423947.7:exon4:c.G341T:p.R114M
EGBC3	chr12	52821960	52821960	T	G	KRT79	Missense_Mutation	NM_175834	exon9	c.A1520C	p.Y507S	SNP	all_mutianno	exonic	KRT79	NA	nonsynonymous SNV	KRT79:NM_175834:exon9:c.A1520C:p.Y507S	exonic	KRT79	NA	nonsynonymous SNV	KRT79:ENST00000330553.5:exon9:c.A1520C:p.Y507S
EGBC3	chr12	52823054	52823054	A	C	KRT79	Missense_Mutation	NM_175834	exon7	c.T1329G	p.I443M	SNP	all_mutianno	exonic	KRT79	NA	nonsynonymous SNV	KRT79:NM_175834:exon7:c.T1329G:p.I443M	exonic	KRT79	NA	nonsynonymous SNV	KRT79:ENST00000330553.5:exon7:c.T1329G:p.I443M
EGBC3	chr12	54499410	54499410	C	A	NCKAP1L	Missense_Mutation	NM_001184976	exon2	c.C8A	p.P3Q	SNP	all_mutianno	exonic	NCKAP1L	NA	nonsynonymous SNV	NCKAP1L:NM_001184976:exon2:c.C8A:p.P3Q,NCKAP1L:NM_005337:exon2:c.C158A:p.P53Q	exonic	NCKAP1L	NA	nonsynonymous SNV	NCKAP1L:ENST00000545638.2:exon2:c.C8A:p.P3Q
EGBC3	chr12	55247572	55247572	T	A	OR6C74	Nonsense_Mutation	NM_001005490	exon1	c.T285A	p.C95X	SNP	all_mutianno	exonic	OR6C74	NA	stopgain	OR6C74:NM_001005490:exon1:c.T285A:p.C95X	exonic	OR6C74	NA	stopgain	OR6C74:ENST00000343870.4:exon1:c.T285A:p.C95X
EGBC3	chr12	72575509	72575509	C	T	TRHDE	Missense_Mutation	NM_013381	exon12	c.C2288T	p.A763V	SNP	all_mutianno	exonic	TRHDE	NA	nonsynonymous SNV	TRHDE:NM_013381:exon12:c.C2288T:p.A763V	exonic	TRHDE	NA	nonsynonymous SNV	TRHDE:ENST00000261180.8:exon12:c.C2153T:p.A718V
EGBC3	chr12	98533743	98533743	G	C	TMPO	Missense_Mutation	NM_003276	exon4	c.G1486C	p.E496Q	SNP	all_mutianno	exonic	TMPO	NA	nonsynonymous SNV	TMPO:NM_003276:exon4:c.G1486C:p.E496Q	exonic	TMPO	NA	nonsynonymous SNV	TMPO:ENST00000266732.8:exon4:c.G1486C:p.E496Q
EGBC3	chr12	120325908	120325908	G	T	PLA2G1B	Nonsense_Mutation	NM_000928	exon2	c.C147A	p.C49X	SNP	all_mutianno	exonic	PLA2G1B	NA	stopgain	PLA2G1B:NM_000928:exon2:c.C147A:p.C49X	exonic	PLA2G1B	NA	stopgain	PLA2G1B:ENST00000549767.1:exon1:c.C60A:p.C20X,PLA2G1B:ENST00000423423.3:exon2:c.C147A:p.C49X
EGBC3	chr12	130163667	130163667	G	T	FZD10	Missense_Mutation	NM_007197	exon1	c.G725T	p.S242I	SNP	all_mutianno	exonic	FZD10	NA	nonsynonymous SNV	FZD10:NM_007197:exon1:c.G725T:p.S242I	exonic	FZD10	NA	nonsynonymous SNV	FZD10:ENST00000229030.4:exon1:c.G725T:p.S242I,FZD10:ENST00000539839.1:exon1:c.G627T:p.Q209H
EGBC3	chr13	33130004	33130004	C	A	STARD13	Missense_Mutation	NM_001243466	exon5	c.G649T	p.A217S	SNP	all_mutianno	exonic	STARD13	NA	nonsynonymous SNV	STARD13:NM_001243466:exon5:c.G649T:p.A217S,STARD13:NM_001243474:exon5:c.G319T:p.A107S,STARD13:NM_052851:exon5:c.G319T:p.A107S,STARD13:NM_178006:exon5:c.G673T:p.A225S,STARD13:NM_178007:exon5:c.G649T:p.A217S,STARD13:NM_001243476:exon9:c.G568T:p.A190S	exonic	STARD13	NA	nonsynonymous SNV	STARD13:ENST00000255486.8:exon5:c.G649T:p.A217S,STARD13:ENST00000399365.7:exon5:c.G319T:p.A107S
EGBC3	chr13	37782967	37782967	C	A	TRPC4	Nonsense_Mutation	NM_001135955	exon2	c.G367T	p.G123X	SNP	all_mutianno	exonic	TRPC4	NA	stopgain	TRPC4:NM_001135955:exon2:c.G367T:p.G123X,TRPC4:NM_001135956:exon2:c.G367T:p.G123X,TRPC4:NM_001135957:exon2:c.G367T:p.G123X,TRPC4:NM_001135958:exon2:c.G367T:p.G123X,TRPC4:NM_003306:exon2:c.G367T:p.G123X,TRPC4:NM_016179:exon2:c.G367T:p.G123X	exonic	TRPC4	NA	stopgain	TRPC4:ENST00000379679.5:exon1:c.G367T:p.G123X,TRPC4:ENST00000625583.2:exon1:c.G367T:p.G123X,TRPC4:ENST00000338947.9:exon2:c.G367T:p.G123X,TRPC4:ENST00000355779.6:exon2:c.G367T:p.G123X,TRPC4:ENST00000358477.6:exon2:c.G367T:p.G123X,TRPC4:ENST00000379673.2:exon2:c.G367T:p.G123X,TRPC4:ENST00000379705.7:exon2:c.G367T:p.G123X,TRPC4:ENST00000426868.6:exon2:c.G367T:p.G123X
EGBC3	chr13	67226649	67226649	C	T	PCDH9	Missense_Mutation	NM_001318372	exon2	c.G1792A	p.D598N	SNP	all_mutianno	exonic	PCDH9	NA	nonsynonymous SNV	PCDH9:NM_001318372:exon2:c.G1792A:p.D598N,PCDH9:NM_001318373:exon2:c.G1792A:p.D598N,PCDH9:NM_001318374:exon2:c.G1792A:p.D598N,PCDH9:NM_020403:exon2:c.G1792A:p.D598N,PCDH9:NM_203487:exon2:c.G1792A:p.D598N	exonic	PCDH9	NA	nonsynonymous SNV	PCDH9:ENST00000377861.4:exon2:c.G1792A:p.D598N,PCDH9:ENST00000456367.5:exon2:c.G1792A:p.D598N,PCDH9:ENST00000544246.5:exon2:c.G1792A:p.D598N
EGBC3	chr14	23419994	23419994	G	T	MYH7	Missense_Mutation	NM_000257	exon27	c.C3577A	p.R1193S	SNP	all_mutianno	exonic	MYH7	NA	nonsynonymous SNV	MYH7:NM_000257:exon27:c.C3577A:p.R1193S	exonic	MYH7	NA	unknown	UNKNOWN
EGBC3	chr14	24075587	24075587	G	A	CPNE6	Missense_Mutation	NM_006032	exon9	c.G860A	p.C287Y	SNP	all_mutianno	exonic	CPNE6	NA	nonsynonymous SNV	CPNE6:NM_006032:exon9:c.G860A:p.C287Y,CPNE6:NM_001280558:exon10:c.G1025A:p.C342Y,CPNE6:NM_001385056:exon10:c.G860A:p.C287Y,CPNE6:NM_001385057:exon10:c.G860A:p.C287Y,CPNE6:NM_001385058:exon10:c.G860A:p.C287Y	exonic	CPNE6	NA	nonsynonymous SNV	CPNE6:ENST00000397016.6:exon10:c.G860A:p.C287Y,CPNE6:ENST00000537691.5:exon10:c.G1025A:p.C342Y
EGBC3	chr14	47218093	47218093	C	A	MDGA2	Missense_Mutation	NM_001113498	exon3	c.G316T	p.G106C	SNP	all_mutianno	exonic	MDGA2	NA	nonsynonymous SNV	MDGA2:NM_001113498:exon3:c.G316T:p.G106C	exonic	MDGA2	NA	unknown	UNKNOWN
EGBC3	chr15	23686740	23686740	G	T	NDN	Missense_Mutation	NM_002487	exon1	c.C478A	p.L160M	SNP	all_mutianno	exonic	NDN	NA	nonsynonymous SNV	NDN:NM_002487:exon1:c.C478A:p.L160M	exonic	NDN	NA	unknown	UNKNOWN
EGBC3	chr15	27532667	27532667	G	T	GABRG3	Missense_Mutation	NM_033223	exon10	c.G1190T	p.W397L	SNP	all_mutianno	exonic	GABRG3	NA	nonsynonymous SNV	GABRG3:NM_033223:exon10:c.G1190T:p.W397L	exonic	GABRG3	NA	nonsynonymous SNV	GABRG3:ENST00000333743.10:exon7:c.G653T:p.W218L
EGBC3	chr15	34753176	34753177	TG	T	GJD2	Frame_Shift_Del	NM_020660	exon2	c.267delC	p.S90Vfs*25	DEL	all_mutianno	exonic	GJD2	NA	frameshift deletion	GJD2:NM_020660:exon2:c.267delC:p.S90Vfs*25	exonic	GJD2	NA	unknown	UNKNOWN
EGBC3	chr15	40358374	40358374	C	T	DISP2	Missense_Mutation	NM_033510	exon1	c.C53T	p.P18L	SNP	all_mutianno	exonic	DISP2	NA	nonsynonymous SNV	DISP2:NM_033510:exon1:c.C53T:p.P18L	exonic	DISP2	NA	unknown	UNKNOWN
EGBC3	chr15	56094992	56094992	C	A	RFX7	Missense_Mutation	NM_001368073	exon9	c.G2445T	p.M815I	SNP	all_mutianno	exonic	RFX7	NA	nonsynonymous SNV	RFX7:NM_001368073:exon9:c.G2445T:p.M815I,RFX7:NM_001368074:exon9:c.G2445T:p.M815I,RFX7:NM_001370554:exon9:c.G2445T:p.M815I,RFX7:NM_022841:exon10:c.G2736T:p.M912I,RFX7:NM_001370561:exon12:c.G2736T:p.M912I	exonic	RFX7	NA	nonsynonymous SNV	RFX7:ENST00000559447.6:exon9:c.G2445T:p.M815I
EGBC3	chr15	76765039	76765039	T	A	SCAPER	Missense_Mutation	NM_001145923	exon14	c.A909T	p.E303D	SNP	all_mutianno	exonic	SCAPER	NA	nonsynonymous SNV	SCAPER:NM_001145923:exon14:c.A909T:p.E303D,SCAPER:NM_020843:exon14:c.A1647T:p.E549D,SCAPER:NM_001353009:exon15:c.A1665T:p.E555D,SCAPER:NM_001353010:exon15:c.A1245T:p.E415D,SCAPER:NM_001353011:exon15:c.A1263T:p.E421D,SCAPER:NM_001353012:exon15:c.A1245T:p.E415D	exonic	SCAPER	NA	nonsynonymous SNV	SCAPER:ENST00000324767.11:exon13:c.A1647T:p.E549D,SCAPER:ENST00000538941.6:exon14:c.A909T:p.E303D
EGBC3	chr15	79046905	79046905	T	C	RASGRF1	Missense_Mutation	NM_001145648	exon5	c.A719G	p.K240R	SNP	all_mutianno	exonic	RASGRF1	NA	nonsynonymous SNV	RASGRF1:NM_001145648:exon5:c.A719G:p.K240R,RASGRF1:NM_002891:exon5:c.A719G:p.K240R	exonic	RASGRF1	NA	nonsynonymous SNV	RASGRF1:ENST00000419573.7:exon5:c.A719G:p.K240R,RASGRF1:ENST00000558480.6:exon5:c.A719G:p.K240R
EGBC3	chr15	83263189	83263189	A	G	BNC1	Missense_Mutation	NM_001301206	exon4	c.T2041C	p.S681P	SNP	all_mutianno	exonic	BNC1	NA	nonsynonymous SNV	BNC1:NM_001301206:exon4:c.T2041C:p.S681P,BNC1:NM_001717:exon4:c.T2062C:p.S688P	exonic	BNC1	NA	nonsynonymous SNV	BNC1:ENST00000345382.6:exon4:c.T2062C:p.S688P,BNC1:ENST00000569704.1:exon4:c.T2041C:p.S681P
EGBC3	chr15	96332197	96332197	G	A	NR2F2	Missense_Mutation	NM_021005	exon1	c.G92A	p.G31D	SNP	all_mutianno	exonic	NR2F2	NA	nonsynonymous SNV	NR2F2:NM_021005:exon1:c.G92A:p.G31D	exonic	NR2F2	NA	unknown	UNKNOWN
EGBC3	chr16	564376	564376	G	T	PRR35	Missense_Mutation	NM_145270	exon2	c.G1082T	p.S361I	SNP	all_mutianno	exonic	PRR35	NA	nonsynonymous SNV	PRR35:NM_145270:exon2:c.G1082T:p.S361I	exonic	PRR35	NA	unknown	UNKNOWN
EGBC3	chr16	1202375	1202375	G	T	CACNA1H	Missense_Mutation	NM_001005407	exon9	c.G1925T	p.G642V	SNP	all_mutianno	exonic	CACNA1H	NA	nonsynonymous SNV	CACNA1H:NM_001005407:exon9:c.G1925T:p.G642V,CACNA1H:NM_021098:exon9:c.G1925T:p.G642V	exonic	CACNA1H	NA	nonsynonymous SNV	CACNA1H:ENST00000565831.6:exon8:c.G1925T:p.G642V,CACNA1H:ENST00000358590.8:exon9:c.G1925T:p.G642V,CACNA1H:ENST00000638323.1:exon9:c.G1886T:p.G629V
EGBC3	chr16	19545866	19545867	CT	C	CCP110	Frame_Shift_Del	NM_001199022	exon11	c.2754delT	p.D920Ifs*6	DEL	all_mutianno	exonic	CCP110	NA	frameshift deletion	CCP110:NM_001199022:exon11:c.2754delT:p.D920Ifs*6,CCP110:NM_001323572:exon11:c.2754delT:p.D920Ifs*6,CCP110:NM_001323577:exon11:c.2754delT:p.D920Ifs*6,CCP110:NM_001323569:exon12:c.2754delT:p.D920Ifs*6,CCP110:NM_001323576:exon12:c.2754delT:p.D920Ifs*6,CCP110:NM_014711:exon12:c.2754delT:p.D920Ifs*6,CCP110:NM_001323570:exon13:c.2754delT:p.D920Ifs*6,CCP110:NM_001323571:exon13:c.2754delT:p.D920Ifs*6	exonic	CCP110	NA	frameshift deletion	CCP110:ENST00000396208.3:exon10:c.2754delT:p.D920Ifs*6,CCP110:ENST00000381396.9:exon11:c.2754delT:p.D920Ifs*6,CCP110:ENST00000396212.6:exon12:c.2754delT:p.D920Ifs*6
EGBC3	chr16	27631144	27631144	G	T	KATNIP	Missense_Mutation	NM_015202	exon5	c.G390T	p.Q130H	SNP	all_mutianno	exonic	KATNIP	NA	nonsynonymous SNV	KATNIP:NM_015202:exon5:c.G390T:p.Q130H	exonic	KIAA0556	NA	unknown	UNKNOWN
EGBC3	chr16	31078575	31078575	G	A	ZNF646	Missense_Mutation	NM_014699	exon2	c.G2251A	p.D751N	SNP	all_mutianno	exonic	ZNF646	NA	nonsynonymous SNV	ZNF646:NM_014699:exon2:c.G2251A:p.D751N	exonic	ZNF646	NA	nonsynonymous SNV	ZNF646:ENST00000394979.2:exon1:c.G2251A:p.D751N,ZNF646:ENST00000300850.5:exon2:c.G2251A:p.D751N
EGBC3	chr16	46909830	46909830	G	T	GPT2	Missense_Mutation	NM_001142466	exon6	c.G423T	p.W141C	SNP	all_mutianno	exonic	GPT2	NA	nonsynonymous SNV	GPT2:NM_001142466:exon6:c.G423T:p.W141C,GPT2:NM_133443:exon6:c.G723T:p.W241C	exonic	GPT2	NA	nonsynonymous SNV	GPT2:ENST00000440783.2:exon6:c.G423T:p.W141C
EGBC3	chr16	58575059	58575059	C	A	CNOT1	Missense_Mutation	NM_001265612	exon15	c.G1775T	p.R592L	SNP	all_mutianno	exonic	CNOT1	NA	nonsynonymous SNV	CNOT1:NM_001265612:exon15:c.G1775T:p.R592L,CNOT1:NM_016284:exon15:c.G1775T:p.R592L,CNOT1:NM_206999:exon15:c.G1775T:p.R592L	exonic	CNOT1	NA	nonsynonymous SNV	CNOT1:ENST00000441024.6:exon15:c.G1775T:p.R592L,CNOT1:ENST00000569240.5:exon15:c.G1775T:p.R592L
EGBC3	chr16	70973439	70973439	C	G	HYDIN	Missense_Mutation	NM_001270974	exon35	c.G5283C	p.K1761N	SNP	all_mutianno	exonic	HYDIN	NA	nonsynonymous SNV	HYDIN:NM_001270974:exon35:c.G5283C:p.K1761N	exonic	HYDIN	NA	unknown	UNKNOWN
EGBC3	chr16	81290476	81290476	G	A	BCO1	Missense_Mutation	NM_017429	exon11	c.G1543A	p.G515R	SNP	all_mutianno	exonic	BCO1	NA	nonsynonymous SNV	BCO1:NM_017429:exon11:c.G1543A:p.G515R	exonic	BCO1	NA	unknown	UNKNOWN
EGBC3	chr16	83998235	83998235	G	A	NECAB2	Missense_Mutation	NM_001329748	exon9	c.G826A	p.V276M	SNP	all_mutianno	exonic	NECAB2	NA	nonsynonymous SNV	NECAB2:NM_001329748:exon9:c.G826A:p.V276M,NECAB2:NM_001329749:exon9:c.G631A:p.V211M,NECAB2:NM_019065:exon10:c.G880A:p.V294M	exonic	NECAB2	NA	nonsynonymous SNV	NECAB2:ENST00000565691.5:exon8:c.G631A:p.V211M,NECAB2:ENST00000305202.8:exon10:c.G880A:p.V294M
EGBC3	chr16	88438792	88438792	C	A	ZNF469	Missense_Mutation	NM_001367624	exon3	c.C11322A	p.S3774R	SNP	all_mutianno	exonic	ZNF469	NA	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.C11322A:p.S3774R	exonic	ZNF469	NA	nonsynonymous SNV	ZNF469:ENST00000437464.1:exon2:c.C11238A:p.S3746R
EGBC3	chr17	4789937	4789937	G	A	GLTPD2	Missense_Mutation	NM_001375801	exon3	c.G625A	p.D209N	SNP	all_mutianno	exonic	GLTPD2	NA	nonsynonymous SNV	GLTPD2:NM_001375801:exon3:c.G625A:p.D209N,GLTPD2:NM_001014985:exon4:c.G517A:p.D173N	exonic	GLTPD2	NA	unknown	UNKNOWN
EGBC3	chr17	7229622	7229622	C	A	DVL2	Missense_Mutation	NM_004422	exon6	c.G713T	p.R238L	SNP	all_mutianno	exonic	DVL2	NA	nonsynonymous SNV	DVL2:NM_004422:exon6:c.G713T:p.R238L	exonic	DVL2	NA	nonsynonymous SNV	DVL2:ENST00000575458.5:exon6:c.G695T:p.R232L
EGBC3	chr17	10315806	10315806	G	T	MYH13	Missense_Mutation	NM_003802	exon29	c.C3871A	p.L1291M	SNP	all_mutianno	exonic	MYH13	NA	nonsynonymous SNV	MYH13:NM_003802:exon29:c.C3871A:p.L1291M	exonic	MYH13	NA	nonsynonymous SNV	MYH13:ENST00000621918.1:exon27:c.C3871A:p.L1291M,MYH13:ENST00000418404.8:exon28:c.C3871A:p.L1291M
EGBC3	chr17	11669454	11669454	G	T	DNAH9	Missense_Mutation	NM_001372	exon17	c.G3013T	p.G1005C	SNP	all_mutianno	exonic	DNAH9	NA	nonsynonymous SNV	DNAH9:NM_001372:exon17:c.G3013T:p.G1005C	exonic	DNAH9	NA	nonsynonymous SNV	DNAH9:ENST00000454412.6:exon17:c.G3013T:p.G1005C
EGBC3	chr17	11669455	11669455	G	T	DNAH9	Missense_Mutation	NM_001372	exon17	c.G3014T	p.G1005V	SNP	all_mutianno	exonic	DNAH9	NA	nonsynonymous SNV	DNAH9:NM_001372:exon17:c.G3014T:p.G1005V	exonic	DNAH9	NA	nonsynonymous SNV	DNAH9:ENST00000454412.6:exon17:c.G3014T:p.G1005V
EGBC3	chr17	18152161	18152161	G	A	MYO15A	Missense_Mutation	NM_016239	exon41	c.G7943A	p.R2648K	SNP	all_mutianno	exonic	MYO15A	NA	nonsynonymous SNV	MYO15A:NM_016239:exon41:c.G7943A:p.R2648K	exonic	MYO15A	NA	nonsynonymous SNV	MYO15A:ENST00000615845.4:exon41:c.G7943A:p.R2648K
EGBC3	chr17	35193810	35193810	G	C	SLC35G3	Missense_Mutation	NM_152462	exon1	c.C498G	p.I166M	SNP	all_mutianno	exonic	SLC35G3	NA	nonsynonymous SNV	SLC35G3:NM_152462:exon1:c.C498G:p.I166M	exonic	SLC35G3	NA	nonsynonymous SNV	SLC35G3:ENST00000297307.6:exon1:c.C498G:p.I166M
EGBC3	chr17	43493702	43493702	G	A	DHX8	Missense_Mutation	NM_001322217	exon7	c.G755A	p.G252E	SNP	all_mutianno	exonic	DHX8	NA	nonsynonymous SNV	DHX8:NM_001322217:exon7:c.G755A:p.G252E,DHX8:NM_001302623:exon8:c.G1028A:p.G343E,DHX8:NM_001322216:exon8:c.G203A:p.G68E,DHX8:NM_001322218:exon8:c.G1022A:p.G341E,DHX8:NM_001322219:exon8:c.G1028A:p.G343E,DHX8:NM_001322220:exon8:c.G1028A:p.G343E,DHX8:NM_001322221:exon8:c.G1022A:p.G341E,DHX8:NM_004941:exon8:c.G1028A:p.G343E	exonic	DHX8	NA	nonsynonymous SNV	DHX8:ENST00000262415.7:exon8:c.G1028A:p.G343E,DHX8:ENST00000540306.5:exon8:c.G1028A:p.G343E
EGBC3	chr17	44905016	44905016	A	T	FAM187A	Missense_Mutation	NM_001258400	exon1	c.A1187T	p.H396L	SNP	all_mutianno	exonic	FAM187A	NA	nonsynonymous SNV	FAM187A:NM_001258400:exon1:c.A1187T:p.H396L	exonic	FAM187A	NA	nonsynonymous SNV	FAM187A:ENST00000331733.4:exon4:c.A1187T:p.H396L
EGBC3	chr17	59389457	59389457	G	A	YPEL2	Missense_Mutation	NM_001005404	exon4	c.G259A	p.G87S	SNP	all_mutianno	exonic	YPEL2	NA	nonsynonymous SNV	YPEL2:NM_001005404:exon4:c.G259A:p.G87S	exonic	YPEL2	NA	nonsynonymous SNV	YPEL2:ENST00000585166.1:exon4:c.G259A:p.G87S
EGBC3	chr17	66885166	66885166	C	A	CACNG5	Missense_Mutation	NM_145811	exon6	c.C754A	p.L252M	SNP	all_mutianno	exonic	CACNG5	NA	nonsynonymous SNV	CACNG5:NM_145811:exon6:c.C754A:p.L252M	exonic	CACNG5	NA	nonsynonymous SNV	CACNG5:ENST00000307139.4:exon5:c.C754A:p.L252M,CACNG5:ENST00000533854.5:exon6:c.C754A:p.L252M
EGBC3	chr17	74352039	74352039	A	G	KIF19	Missense_Mutation	NM_153209	exon13	c.A1760G	p.D587G	SNP	all_mutianno	exonic	KIF19	NA	nonsynonymous SNV	KIF19:NM_153209:exon13:c.A1760G:p.D587G	exonic	KIF19	NA	unknown	UNKNOWN
EGBC3	chr17	74592627	74592627	G	T	C17orf77	Missense_Mutation	NM_001302809	exon3	c.G581T	p.C194F	SNP	all_mutianno	exonic	C17orf77	NA	nonsynonymous SNV	C17orf77:NM_001302809:exon3:c.G581T:p.C194F,C17orf77:NM_152460:exon3:c.G581T:p.C194F	ncRNA_exonic	C17orf77	NA	NA	NA
EGBC3	chr17	78138037	78138037	G	T	TMC8	Missense_Mutation	NM_152468	exon12	c.G1382T	p.W461L	SNP	all_mutianno	exonic	TMC8	NA	nonsynonymous SNV	TMC8:NM_152468:exon12:c.G1382T:p.W461L	exonic	TMC8	NA	nonsynonymous SNV	TMC8:ENST00000589691.1:exon11:c.G713T:p.W238L,TMC8:ENST00000318430.9:exon12:c.G1382T:p.W461L
EGBC3	chr18	712517	712517	C	A	ENOSF1	Missense_Mutation	NM_001354066	exon1	c.G71T	p.G24V	SNP	all_mutianno	exonic	ENOSF1	NA	nonsynonymous SNV	ENOSF1:NM_001354066:exon1:c.G71T:p.G24V,ENOSF1:NM_001354067:exon1:c.G71T:p.G24V,ENOSF1:NM_001354068:exon1:c.G71T:p.G24V,ENOSF1:NM_017512:exon1:c.G71T:p.G24V,ENOSF1:NM_202758:exon1:c.G71T:p.G24V	exonic	ENOSF1	NA	nonsynonymous SNV	ENOSF1:ENST00000580982.5:exon1:c.G71T:p.G24V
EGBC3	chr18	12126087	12126087	C	A	ANKRD62	Missense_Mutation	NM_001277333	exon13	c.C2266A	p.Q756K	SNP	all_mutianno	exonic	ANKRD62	NA	nonsynonymous SNV	ANKRD62:NM_001277333:exon13:c.C2266A:p.Q756K	exonic	ANKRD62	NA	nonsynonymous SNV	ANKRD62:ENST00000587848.2:exon13:c.C2266A:p.Q756K
EGBC3	chr18	31760171	31760171	A	T	SLC25A52	Missense_Mutation	NM_001034172	exon1	c.T491A	p.L164Q	SNP	all_mutianno	exonic	SLC25A52	NA	nonsynonymous SNV	SLC25A52:NM_001034172:exon1:c.T491A:p.L164Q	exonic	SLC25A52	NA	nonsynonymous SNV	SLC25A52:ENST00000269205.5:exon1:c.T521A:p.L174Q
EGBC3	chr18	34818283	34818283	G	C	DTNA	Missense_Mutation	NM_001198943	exon1	c.G79C	p.G27R	SNP	all_mutianno	exonic	DTNA	NA	nonsynonymous SNV	DTNA:NM_001198943:exon1:c.G79C:p.G27R,DTNA:NM_001390:exon7:c.G829C:p.G277R,DTNA:NM_001391:exon7:c.G829C:p.G277R,DTNA:NM_001198941:exon8:c.G829C:p.G277R,DTNA:NM_032978:exon8:c.G829C:p.G277R,DTNA:NM_001128175:exon9:c.G829C:p.G277R,DTNA:NM_001198938:exon9:c.G829C:p.G277R,DTNA:NM_001198939:exon9:c.G829C:p.G277R,DTNA:NM_001198940:exon9:c.G829C:p.G277R,DTNA:NM_001392:exon9:c.G829C:p.G277R,DTNA:NM_032975:exon9:c.G829C:p.G277R,DTNA:NM_032979:exon9:c.G829C:p.G277R	exonic	DTNA	NA	nonsynonymous SNV	DTNA:ENST00000399113.7:exon7:c.G829C:p.G277R,DTNA:ENST00000444659.5:exon7:c.G829C:p.G277R,DTNA:ENST00000348997.9:exon8:c.G829C:p.G277R,DTNA:ENST00000597599.5:exon8:c.G829C:p.G277R,DTNA:ENST00000598142.5:exon8:c.G829C:p.G277R,DTNA:ENST00000598774.5:exon8:c.G829C:p.G277R,DTNA:ENST00000283365.13:exon9:c.G829C:p.G277R,DTNA:ENST00000315456.10:exon9:c.G829C:p.G277R,DTNA:ENST00000399121.9:exon9:c.G829C:p.G277R,DTNA:ENST00000554864.7:exon9:c.G829C:p.G277R,DTNA:ENST00000595022.5:exon9:c.G829C:p.G277R,DTNA:ENST00000598334.5:exon9:c.G829C:p.G277R
EGBC3	chr18	36594789	36594789	C	A	FHOD3	Missense_Mutation	NM_001281739	exon7	c.C609A	p.F203L	SNP	all_mutianno	exonic	FHOD3	NA	nonsynonymous SNV	FHOD3:NM_001281739:exon7:c.C609A:p.F203L,FHOD3:NM_001281740:exon7:c.C609A:p.F203L,FHOD3:NM_025135:exon7:c.C609A:p.F203L	exonic	FHOD3	NA	nonsynonymous SNV	FHOD3:ENST00000257209.8:exon7:c.C609A:p.F203L,FHOD3:ENST00000359247.8:exon7:c.C609A:p.F203L,FHOD3:ENST00000590592.5:exon7:c.C609A:p.F203L
EGBC3	chr18	41987848	41987848	G	T	PIK3C3	Missense_Mutation	NM_001308020	exon4	c.G379T	p.V127L	SNP	all_mutianno	exonic	PIK3C3	NA	nonsynonymous SNV	PIK3C3:NM_001308020:exon4:c.G379T:p.V127L,PIK3C3:NM_002647:exon5:c.G568T:p.V190L	exonic	PIK3C3	NA	nonsynonymous SNV	PIK3C3:ENST00000398870.7:exon4:c.G379T:p.V127L,PIK3C3:ENST00000639914.1:exon5:c.G568T:p.V190L
EGBC3	chr18	41987849	41987849	T	C	PIK3C3	Missense_Mutation	NM_001308020	exon4	c.T380C	p.V127A	SNP	all_mutianno	exonic	PIK3C3	NA	nonsynonymous SNV	PIK3C3:NM_001308020:exon4:c.T380C:p.V127A,PIK3C3:NM_002647:exon5:c.T569C:p.V190A	exonic	PIK3C3	NA	nonsynonymous SNV	PIK3C3:ENST00000398870.7:exon4:c.T380C:p.V127A,PIK3C3:ENST00000639914.1:exon5:c.T569C:p.V190A
EGBC3	chr18	42037738	42037738	G	T	PIK3C3	Missense_Mutation	NM_001308020	exon16	c.G1697T	p.G566V	SNP	all_mutianno	exonic	PIK3C3	NA	nonsynonymous SNV	PIK3C3:NM_001308020:exon16:c.G1697T:p.G566V,PIK3C3:NM_002647:exon17:c.G1886T:p.G629V	exonic	PIK3C3	NA	nonsynonymous SNV	PIK3C3:ENST00000398870.7:exon16:c.G1697T:p.G566V,PIK3C3:ENST00000639914.1:exon17:c.G1889T:p.G630V
EGBC3	chr18	50726020	50726020	G	T	MAPK4	Missense_Mutation	NM_001292039	exon4	c.G279T	p.E93D	SNP	all_mutianno	exonic	MAPK4	NA	nonsynonymous SNV	MAPK4:NM_001292039:exon4:c.G279T:p.E93D,MAPK4:NM_002747:exon5:c.G912T:p.E304D	exonic	MAPK4	NA	nonsynonymous SNV	MAPK4:ENST00000540640.3:exon4:c.G279T:p.E93D
EGBC3	chr18	75286521	75286521	G	C	TSHZ1	Missense_Mutation	NM_001308210	exon2	c.G1114C	p.A372P	SNP	all_mutianno	exonic	TSHZ1	NA	nonsynonymous SNV	TSHZ1:NM_001308210:exon2:c.G1114C:p.A372P,TSHZ1:NM_005786:exon2:c.G979C:p.A327P	exonic	TSHZ1	NA	nonsynonymous SNV	TSHZ1:ENST00000322038.5:exon2:c.G979C:p.A327P
EGBC3	chr18	77016848	77016848	T	C	MBP	Missense_Mutation	NM_001025081	exon1	c.A161G	p.K54R	SNP	all_mutianno	exonic	MBP	NA	nonsynonymous SNV	MBP:NM_001025081:exon1:c.A161G:p.K54R,MBP:NM_001025090:exon1:c.A161G:p.K54R,MBP:NM_001025092:exon1:c.A161G:p.K54R,MBP:NM_002385:exon1:c.A161G:p.K54R,MBP:NM_001025100:exon4:c.A560G:p.K187R,MBP:NM_001025101:exon4:c.A560G:p.K187R	exonic	MBP	NA	nonsynonymous SNV	MBP:ENST00000354542.4:exon1:c.A161G:p.K54R,MBP:ENST00000359645.7:exon1:c.A161G:p.K54R,MBP:ENST00000382582.7:exon1:c.A161G:p.K54R,MBP:ENST00000397865.9:exon1:c.A161G:p.K54R,MBP:ENST00000397866.8:exon1:c.A161G:p.K54R,MBP:ENST00000397869.7:exon1:c.A161G:p.K54R,MBP:ENST00000397875.7:exon1:c.A161G:p.K54R,MBP:ENST00000527041.1:exon1:c.A161G:p.K54R,MBP:ENST00000578193.5:exon1:c.A161G:p.K54R,MBP:ENST00000526111.5:exon2:c.A95G:p.K32R,MBP:ENST00000580402.5:exon3:c.A560G:p.K187R,MBP:ENST00000397860.7:exon4:c.A560G:p.K187R,MBP:ENST00000397863.5:exon4:c.A560G:p.K187R,MBP:ENST00000579129.5:exon4:c.A560G:p.K187R
EGBC3	chr19	1615305	1615305	T	C	TCF3	Missense_Mutation	NM_001351778	exon18	c.A1799G	p.N600S	SNP	all_mutianno	exonic	TCF3	NA	nonsynonymous SNV	TCF3:NM_001351778:exon18:c.A1799G:p.N600S,TCF3:NM_003200:exon18:c.A1802G:p.N601S	exonic	TCF3	NA	nonsynonymous SNV	TCF3:ENST00000395423.7:exon15:c.A1814G:p.N605S
EGBC3	chr19	2807526	2807526	G	T	THOP1	Missense_Mutation	NM_003249	exon8	c.G971T	p.R324L	SNP	all_mutianno	exonic	THOP1	NA	nonsynonymous SNV	THOP1:NM_003249:exon8:c.G971T:p.R324L	exonic	THOP1	NA	nonsynonymous SNV	THOP1:ENST00000586677.5:exon5:c.G608T:p.R203L
EGBC3	chr19	4552431	4552431	G	T	SEMA6B	Missense_Mutation	NM_032108	exon10	c.C980A	p.P327H	SNP	all_mutianno	exonic	SEMA6B	NA	nonsynonymous SNV	SEMA6B:NM_032108:exon10:c.C980A:p.P327H	exonic	SEMA6B	NA	nonsynonymous SNV	SEMA6B:ENST00000586965.1:exon9:c.C980A:p.P327H
EGBC3	chr19	5456216	5456216	C	A	ZNRF4	Missense_Mutation	NM_181710	exon1	c.C725A	p.P242Q	SNP	all_mutianno	exonic	ZNRF4	NA	nonsynonymous SNV	ZNRF4:NM_181710:exon1:c.C725A:p.P242Q	exonic	ZNRF4	NA	nonsynonymous SNV	ZNRF4:ENST00000222033.5:exon1:c.C725A:p.P242Q
EGBC3	chr19	6934994	6934994	C	A	ADGRE1	Missense_Mutation	NM_001256254	exon15	c.C1874A	p.S625Y	SNP	all_mutianno	exonic	ADGRE1	NA	nonsynonymous SNV	ADGRE1:NM_001256254:exon15:c.C1874A:p.S625Y,ADGRE1:NM_001256255:exon15:c.C1766A:p.S589Y,ADGRE1:NM_001256252:exon17:c.C2240A:p.S747Y,ADGRE1:NM_001256253:exon17:c.C2102A:p.S701Y,ADGRE1:NM_001974:exon18:c.C2297A:p.S766Y	exonic	ADGRE1	NA	nonsynonymous SNV	ADGRE1:ENST00000381407.9:exon15:c.C1874A:p.S625Y,ADGRE1:ENST00000450315.7:exon15:c.C1766A:p.S589Y,ADGRE1:ENST00000250572.12:exon17:c.C2102A:p.S701Y,ADGRE1:ENST00000381404.8:exon17:c.C2240A:p.S747Y
EGBC3	chr19	7550298	7550298	G	T	PNPLA6	Missense_Mutation	NM_001166114	exon15	c.G1815T	p.E605D	SNP	all_mutianno	exonic	PNPLA6	NA	nonsynonymous SNV	PNPLA6:NM_001166114:exon15:c.G1815T:p.E605D,PNPLA6:NM_001166111:exon17:c.G1842T:p.E614D,PNPLA6:NM_001166112:exon17:c.G1620T:p.E540D,PNPLA6:NM_001166113:exon18:c.G1698T:p.E566D,PNPLA6:NM_006702:exon18:c.G1698T:p.E566D	exonic	PNPLA6	NA	nonsynonymous SNV	PNPLA6:ENST00000600737.5:exon15:c.G1815T:p.E605D,PNPLA6:ENST00000414982.7:exon17:c.G1842T:p.E614D,PNPLA6:ENST00000545201.6:exon17:c.G1620T:p.E540D,PNPLA6:ENST00000221249.10:exon18:c.G1698T:p.E566D,PNPLA6:ENST00000450331.7:exon18:c.G1698T:p.E566D
EGBC3	chr19	7863662	7863662	A	T	EVI5L	Missense_Mutation	NM_145245	exon19	c.A2345T	p.D782V	SNP	all_mutianno	exonic	EVI5L	NA	nonsynonymous SNV	EVI5L:NM_145245:exon19:c.A2345T:p.D782V,EVI5L:NM_001159944:exon20:c.A2378T:p.D793V	exonic	EVI5L	NA	nonsynonymous SNV	EVI5L:ENST00000270530.8:exon19:c.A2345T:p.D782V,EVI5L:ENST00000538904.6:exon19:c.A2378T:p.D793V
EGBC3	chr19	8483208	8483208	G	T	HNRNPM	Nonsense_Mutation	NM_001297418	exon11	c.G766T	p.G256X	SNP	all_mutianno	exonic	HNRNPM	NA	stopgain	HNRNPM:NM_001297418:exon11:c.G766T:p.G256X,HNRNPM:NM_005968:exon13:c.G1171T:p.G391X,HNRNPM:NM_031203:exon14:c.G1054T:p.G352X	exonic	HNRNPM	NA	stopgain	HNRNPM:ENST00000620401.4:exon12:c.G1171T:p.G391X,HNRNPM:ENST00000348943.7:exon14:c.G1054T:p.G352X
EGBC3	chr19	8811753	8811753	C	A	ZNF558	Missense_Mutation	NM_001304350	exon5	c.G524T	p.R175L	SNP	all_mutianno	exonic	ZNF558	NA	nonsynonymous SNV	ZNF558:NM_001304350:exon5:c.G524T:p.R175L,ZNF558:NM_144693:exon10:c.G737T:p.R246L	exonic	ZNF558	NA	nonsynonymous SNV	ZNF558:ENST00000301475.1:exon6:c.G737T:p.R246L
EGBC3	chr19	8871653	8871653	C	A	MUC16	Missense_Mutation	NM_024690	exon70	c.G41946T	p.R13982S	SNP	all_mutianno	exonic	MUC16	NA	nonsynonymous SNV	MUC16:NM_024690:exon70:c.G41946T:p.R13982S	exonic	MUC16	NA	nonsynonymous SNV	MUC16:ENST00000397910.8:exon70:c.G41946T:p.R13982S
EGBC3	chr19	8937179	8937179	T	A	MUC16	Missense_Mutation	NM_024690	exon5	c.A33776T	p.E11259V	SNP	all_mutianno	exonic	MUC16	NA	nonsynonymous SNV	MUC16:NM_024690:exon5:c.A33776T:p.E11259V	exonic	MUC16	NA	nonsynonymous SNV	MUC16:ENST00000397910.8:exon5:c.A33776T:p.E11259V
EGBC3	chr19	21971970	21971970	T	C	ZNF208	Missense_Mutation	NM_007153	exon4	c.A3064G	p.I1022V	SNP	all_mutianno	exonic	ZNF208	NA	nonsynonymous SNV	ZNF208:NM_007153:exon4:c.A3064G:p.I1022V	exonic	ZNF208	NA	nonsynonymous SNV	ZNF208:ENST00000609966.5:exon6:c.A2680G:p.I894V
EGBC3	chr19	21972770	21972770	C	T	ZNF208	Missense_Mutation	NM_007153	exon4	c.G2264A	p.G755D	SNP	all_mutianno	exonic	ZNF208	NA	nonsynonymous SNV	ZNF208:NM_007153:exon4:c.G2264A:p.G755D	exonic	ZNF208	NA	nonsynonymous SNV	ZNF208:ENST00000609966.5:exon5:c.G1964A:p.G655D
EGBC3	chr19	22403495	22403495	C	A	ZNF98	Missense_Mutation	NM_001098626	exon2	c.G48T	p.R16S	SNP	all_mutianno	exonic	ZNF98	NA	nonsynonymous SNV	ZNF98:NM_001098626:exon2:c.G48T:p.R16S	exonic	ZNF98	NA	nonsynonymous SNV	ZNF98:ENST00000357774.9:exon2:c.G48T:p.R16S,ZNF98:ENST00000601553.1:exon2:c.G48T:p.R16S
EGBC3	chr19	22664316	22664316	A	C	ZNF492	Missense_Mutation	NM_020855	exon4	c.A647C	p.K216T	SNP	all_mutianno	exonic	ZNF492	NA	nonsynonymous SNV	ZNF492:NM_020855:exon4:c.A647C:p.K216T	exonic	ZNF492	NA	unknown	UNKNOWN
EGBC3	chr19	30548240	30548240	C	T	ZNF536	Missense_Mutation	NM_001352260	exon4	c.C2621T	p.T874M	SNP	all_mutianno	exonic	ZNF536	NA	nonsynonymous SNV	ZNF536:NM_001352260:exon4:c.C2621T:p.T874M,ZNF536:NM_014717:exon4:c.C2621T:p.T874M,ZNF536:NM_001376110:exon5:c.C2621T:p.T874M,ZNF536:NM_001376111:exon5:c.C2621T:p.T874M	exonic	ZNF536	NA	unknown	UNKNOWN
EGBC3	chr19	30548563	30548563	C	T	ZNF536	Missense_Mutation	NM_001352260	exon4	c.C2944T	p.P982S	SNP	all_mutianno	exonic	ZNF536	NA	nonsynonymous SNV	ZNF536:NM_001352260:exon4:c.C2944T:p.P982S,ZNF536:NM_014717:exon4:c.C2944T:p.P982S,ZNF536:NM_001376110:exon5:c.C2944T:p.P982S,ZNF536:NM_001376111:exon5:c.C2944T:p.P982S	exonic	ZNF536	NA	unknown	UNKNOWN
EGBC3	chr19	35826575	35826575	C	A	NPHS1	Missense_Mutation	NM_004646	exon29	c.G3665T	p.G1222V	SNP	all_mutianno	exonic	NPHS1	NA	nonsynonymous SNV	NPHS1:NM_004646:exon29:c.G3665T:p.G1222V	exonic	NPHS1	NA	nonsynonymous SNV	NPHS1:ENST00000353632.6:exon28:c.G3545T:p.G1182V,NPHS1:ENST00000378910.9:exon29:c.G3665T:p.G1222V
EGBC3	chr19	36949519	36949519	G	T	ZNF568	Missense_Mutation	NM_001204837	exon5	c.G174T	p.W58C	SNP	all_mutianno	exonic	ZNF568	NA	nonsynonymous SNV	ZNF568:NM_001204837:exon5:c.G174T:p.W58C,ZNF568:NM_001204836:exon6:c.G174T:p.W58C,ZNF568:NM_001204835:exon7:c.G363T:p.W121C,ZNF568:NM_198539:exon7:c.G366T:p.W122C	exonic	ZNF568	NA	nonsynonymous SNV	ZNF568:ENST00000616085.1:exon3:c.G174T:p.W58C,ZNF568:ENST00000415168.5:exon5:c.G174T:p.W58C,ZNF568:ENST00000619231.4:exon5:c.G366T:p.W122C
EGBC3	chr19	38831462	38831462	G	A	ECH1	Missense_Mutation	NM_001398	exon2	c.C107T	p.S36F	SNP	all_mutianno	exonic	ECH1	NA	nonsynonymous SNV	ECH1:NM_001398:exon2:c.C107T:p.S36F	exonic	AC104534.3;ECH1	NA	unknown	UNKNOWN
EGBC3	chr19	42868149	42868149	A	T	PSG1	Missense_Mutation	NM_001330524	exon4	c.T916A	p.S306T	SNP	all_mutianno	exonic	PSG1	NA	nonsynonymous SNV	PSG1:NM_001330524:exon4:c.T916A:p.S306T,PSG1:NM_001184825:exon5:c.T1195A:p.S399T,PSG1:NM_001184826:exon5:c.T1195A:p.S399T,PSG1:NM_001297773:exon5:c.T1195A:p.S399T,PSG1:NM_006905:exon5:c.T1195A:p.S399T	exonic	PSG1	NA	nonsynonymous SNV	PSG1:ENST00000403380.7:exon4:c.T916A:p.S306T,PSG1:ENST00000595124.5:exon4:c.T916A:p.S306T,PSG1:ENST00000244296.6:exon5:c.T1195A:p.S399T,PSG1:ENST00000312439.10:exon5:c.T1195A:p.S399T,PSG1:ENST00000436291.6:exon5:c.T1195A:p.S399T,PSG1:ENST00000595356.5:exon5:c.T1195A:p.S399T
EGBC3	chr19	43071927	43071927	G	T	PSG2	Missense_Mutation	NM_031246	exon4	c.C737A	p.P246H	SNP	all_mutianno	exonic	PSG2	NA	nonsynonymous SNV	PSG2:NM_031246:exon4:c.C737A:p.P246H	exonic	PSG2	NA	unknown	UNKNOWN
EGBC3	chr19	43258403	43258403	C	A	PSG9	Nonsense_Mutation	NM_001301709	exon3	c.G484T	p.E162X	SNP	all_mutianno	exonic	PSG9	NA	stopgain	PSG9:NM_001301709:exon3:c.G484T:p.E162X,PSG9:NM_001301707:exon4:c.G763T:p.E255X,PSG9:NM_001301708:exon4:c.G763T:p.E255X,PSG9:NM_002784:exon5:c.G1042T:p.E348X	exonic	PSG9	NA	stopgain	PSG9:ENST00000291752.9:exon3:c.G484T:p.E162X,PSG9:ENST00000596730.1:exon3:c.G484T:p.E162X,PSG9:ENST00000244293.11:exon4:c.G763T:p.E255X,PSG9:ENST00000418820.6:exon4:c.G763T:p.E255X,PSG9:ENST00000443718.7:exon4:c.G763T:p.E255X,PSG9:ENST00000593948.5:exon4:c.G763T:p.E255X,PSG9:ENST00000621109.4:exon5:c.G1042T:p.E348X
EGBC3	chr19	43750722	43750722	C	T	SMG9	Missense_Mutation	NM_019108	exon2	c.G20A	p.S7N	SNP	all_mutianno	exonic	SMG9	NA	nonsynonymous SNV	SMG9:NM_019108:exon2:c.G20A:p.S7N	exonic	SMG9	NA	nonsynonymous SNV	SMG9:ENST00000601170.5:exon2:c.G20A:p.S7N
EGBC3	chr19	44477433	44477433	C	A	ZNF180	Nonsense_Mutation	NM_001278508	exon4	c.G973T	p.E325X	SNP	all_mutianno	exonic	ZNF180	NA	stopgain	ZNF180:NM_001278508:exon4:c.G973T:p.E325X,ZNF180:NM_001288761:exon4:c.G19T:p.E7X,ZNF180:NM_001288762:exon4:c.G19T:p.E7X,ZNF180:NM_001278509:exon5:c.G967T:p.E323X,ZNF180:NM_001288759:exon5:c.G1045T:p.E349X,ZNF180:NM_001291633:exon5:c.G967T:p.E323X,ZNF180:NM_013256:exon5:c.G1048T:p.E350X,ZNF180:NM_001288760:exon7:c.G19T:p.E7X	exonic	ZNF180	NA	stopgain	ZNF180:ENST00000391956.8:exon4:c.G973T:p.E325X,ZNF180:ENST00000221327.8:exon5:c.G1048T:p.E350X,ZNF180:ENST00000592529.5:exon5:c.G967T:p.E323X
EGBC3	chr19	49104712	49104712	A	T	SNRNP70	Missense_Mutation	NM_001301069	exon8	c.A554T	p.K185M	SNP	all_mutianno	exonic	SNRNP70	NA	nonsynonymous SNV	SNRNP70:NM_001301069:exon8:c.A554T:p.K185M,SNRNP70:NM_003089:exon8:c.A554T:p.K185M	exonic	SNRNP70	NA	nonsynonymous SNV	SNRNP70:ENST00000221448.9:exon8:c.A554T:p.K185M
EGBC3	chr19	53165739	53165739	C	G	ZNF665	Missense_Mutation	NM_001353459	exon4	c.G751C	p.G251R	SNP	all_mutianno	exonic	ZNF665	NA	nonsynonymous SNV	ZNF665:NM_001353459:exon4:c.G751C:p.G251R,ZNF665:NM_024733:exon4:c.G751C:p.G251R,ZNF665:NM_001353457:exon5:c.G745C:p.G249R,ZNF665:NM_001353458:exon5:c.G835C:p.G279R	exonic	ZNF665	NA	nonsynonymous SNV	ZNF665:ENST00000600412.1:exon2:c.G556C:p.G186R
EGBC3	chr19	54099761	54099761	G	T	OSCAR	Missense_Mutation	NM_001282349	exon3	c.C57A	p.D19E	SNP	all_mutianno	exonic	OSCAR	NA	nonsynonymous SNV	OSCAR:NM_001282349:exon3:c.C57A:p.D19E,OSCAR:NM_130771:exon3:c.C57A:p.D19E,OSCAR:NM_133169:exon3:c.C57A:p.D19E,OSCAR:NM_206818:exon3:c.C57A:p.D19E	exonic	OSCAR	NA	nonsynonymous SNV	OSCAR:ENST00000356532.7:exon2:c.C57A:p.D19E,OSCAR:ENST00000358375.8:exon2:c.C57A:p.D19E,OSCAR:ENST00000359649.8:exon2:c.C57A:p.D19E,OSCAR:ENST00000391760.1:exon2:c.C57A:p.D19E,OSCAR:ENST00000616447.4:exon2:c.C57A:p.D19E,OSCAR:ENST00000284648.10:exon3:c.C57A:p.D19E,OSCAR:ENST00000611261.4:exon3:c.C57A:p.D19E,OSCAR:ENST00000617140.4:exon3:c.C57A:p.D19E
EGBC3	chr19	55246935	55246935	T	C	PPP6R1	Missense_Mutation	NM_014931	exon2	c.A169G	p.M57V	SNP	all_mutianno	exonic	PPP6R1	NA	nonsynonymous SNV	PPP6R1:NM_014931:exon2:c.A169G:p.M57V	exonic	PPP6R1	NA	nonsynonymous SNV	PPP6R1:ENST00000587283.5:exon1:c.A169G:p.M57V
EGBC3	chr19	55304665	55304665	G	A	BRSK1	Missense_Mutation	NM_032430	exon14	c.G1462A	p.A488T	SNP	all_mutianno	exonic	BRSK1	NA	nonsynonymous SNV	BRSK1:NM_032430:exon14:c.G1462A:p.A488T	exonic	BRSK1	NA	nonsynonymous SNV	BRSK1:ENST00000326848.7:exon6:c.G547A:p.A183T,BRSK1:ENST00000309383.5:exon14:c.G1462A:p.A488T,BRSK1:ENST00000590333.5:exon16:c.G1510A:p.A504T
EGBC3	chr19	55762760	55762760	G	T	RFPL4A	Missense_Mutation	NM_001145014	exon3	c.G449T	p.R150L	SNP	all_mutianno	exonic	RFPL4A	NA	nonsynonymous SNV	RFPL4A:NM_001145014:exon3:c.G449T:p.R150L	exonic	RFPL4A	NA	nonsynonymous SNV	RFPL4A:ENST00000434937.2:exon3:c.G449T:p.R150L
EGBC3	chr19	55771902	55771902	A	T	RFPL4AL1	Missense_Mutation	NM_001277397	exon2	c.A98T	p.Q33L	SNP	all_mutianno	exonic	RFPL4AL1	NA	nonsynonymous SNV	RFPL4AL1:NM_001277397:exon2:c.A98T:p.Q33L	exonic	RFPL4AL1	NA	nonsynonymous SNV	RFPL4AL1:ENST00000341750.4:exon2:c.A98T:p.Q33L
EGBC3	chr19	55772764	55772764	G	T	RFPL4AL1	Missense_Mutation	NM_001277397	exon3	c.G449T	p.R150L	SNP	all_mutianno	exonic	RFPL4AL1	NA	nonsynonymous SNV	RFPL4AL1:NM_001277397:exon3:c.G449T:p.R150L	exonic	RFPL4AL1	NA	nonsynonymous SNV	RFPL4AL1:ENST00000341750.4:exon3:c.G449T:p.R150L
EGBC3	chr19	55810197	55810197	G	T	NLRP11	Missense_Mutation	NM_001297743	exon4	c.C116A	p.S39Y	SNP	all_mutianno	exonic	NLRP11	NA	nonsynonymous SNV	NLRP11:NM_001297743:exon4:c.C116A:p.S39Y,NLRP11:NM_001385451:exon5:c.C413A:p.S138Y,NLRP11:NM_001385453:exon5:c.C413A:p.S138Y,NLRP11:NM_145007:exon5:c.C413A:p.S138Y	exonic	NLRP11	NA	nonsynonymous SNV	NLRP11:ENST00000589824.6:exon2:c.C413A:p.S138Y,NLRP11:ENST00000592953.5:exon2:c.C116A:p.S39Y,NLRP11:ENST00000589093.5:exon3:c.C413A:p.S138Y
EGBC3	chr19	55810287	55810287	C	A	NLRP11	Missense_Mutation	NM_001297743	exon4	c.G26T	p.W9L	SNP	all_mutianno	exonic	NLRP11	NA	nonsynonymous SNV	NLRP11:NM_001297743:exon4:c.G26T:p.W9L,NLRP11:NM_001385451:exon5:c.G323T:p.W108L,NLRP11:NM_001385453:exon5:c.G323T:p.W108L,NLRP11:NM_145007:exon5:c.G323T:p.W108L	exonic	NLRP11	NA	nonsynonymous SNV	NLRP11:ENST00000589824.6:exon2:c.G323T:p.W108L,NLRP11:ENST00000592953.5:exon2:c.G26T:p.W9L,NLRP11:ENST00000589093.5:exon3:c.G323T:p.W108L
EGBC3	chr19	55976173	55976173	A	G	NLRP8	Missense_Mutation	NM_001317000	exon8	c.A2689G	p.M897V	SNP	all_mutianno	exonic	NLRP8	NA	nonsynonymous SNV	NLRP8:NM_001317000:exon8:c.A2689G:p.M897V,NLRP8:NM_176811:exon8:c.A2746G:p.M916V	exonic	NLRP8	NA	nonsynonymous SNV	NLRP8:ENST00000291971.7:exon8:c.A2746G:p.M916V,NLRP8:ENST00000590542.1:exon8:c.A2689G:p.M897V
EGBC3	chr19	56664672	56664672	C	A	ZNF835	Missense_Mutation	NM_001005850	exon2	c.G527T	p.S176I	SNP	all_mutianno	exonic	ZNF835	NA	nonsynonymous SNV	ZNF835:NM_001005850:exon2:c.G527T:p.S176I	exonic	ZNF835	NA	unknown	UNKNOWN
EGBC3	chr19	57291175	57291175	C	T	ZNF460	Missense_Mutation	NM_001330622	exon3	c.C511T	p.L171F	SNP	all_mutianno	exonic	ZNF460	NA	nonsynonymous SNV	ZNF460:NM_001330622:exon3:c.C511T:p.L171F,ZNF460:NM_006635:exon3:c.C634T:p.L212F	exonic	ZNF460	NA	nonsynonymous SNV	ZNF460:ENST00000537645.5:exon3:c.C511T:p.L171F
EGBC3	chr19	57750791	57750791	G	T	ZNF776	Missense_Mutation	NM_001348007	exon2	c.G40T	p.V14L	SNP	all_mutianno	exonic	ZNF776	NA	nonsynonymous SNV	ZNF776:NM_001348007:exon2:c.G40T:p.V14L,ZNF776:NM_173632:exon2:c.G40T:p.V14L	exonic	AC003006.7;ZNF776	NA	nonsynonymous SNV	ZNF776:ENST00000431353.1:exon2:c.G40T:p.V14L,AC003006.7:ENST00000594684.1:exon2:c.G40T:p.V14L
EGBC3	chr20	3660920	3660920	G	T	GFRA4	Missense_Mutation	NM_145762	exon2	c.C416A	p.P139Q	SNP	all_mutianno	exonic	GFRA4	NA	nonsynonymous SNV	GFRA4:NM_145762:exon2:c.C416A:p.P139Q	exonic	GFRA4	NA	nonsynonymous SNV	GFRA4:ENST00000319242.7:exon2:c.C416A:p.P139Q
EGBC3	chr20	5922791	5922791	G	T	CHGB	Missense_Mutation	NM_001819	exon4	c.G647T	p.R216I	SNP	all_mutianno	exonic	CHGB	NA	nonsynonymous SNV	CHGB:NM_001819:exon4:c.G647T:p.R216I	exonic	CHGB	NA	unknown	UNKNOWN
EGBC3	chr20	32983942	32983942	G	A	SUN5	Missense_Mutation	NM_080675	exon13	c.C992T	p.P331L	SNP	all_mutianno	exonic	SUN5	NA	nonsynonymous SNV	SUN5:NM_080675:exon13:c.C992T:p.P331L	exonic	SUN5	NA	nonsynonymous SNV	SUN5:ENST00000375523.7:exon12:c.C917T:p.P306L
EGBC3	chr20	38355409	38355409	G	T	LBP	Missense_Mutation	NM_004139	exon5	c.G588T	p.R196S	SNP	all_mutianno	exonic	LBP	NA	nonsynonymous SNV	LBP:NM_004139:exon5:c.G588T:p.R196S	exonic	LBP	NA	unknown	UNKNOWN
EGBC3	chr20	42791334	42791334	C	A	PTPRT	Missense_Mutation	NM_007050	exon3	c.G347T	p.S116I	SNP	all_mutianno	exonic	PTPRT	NA	nonsynonymous SNV	PTPRT:NM_007050:exon3:c.G347T:p.S116I,PTPRT:NM_133170:exon3:c.G347T:p.S116I	exonic	PTPRT	NA	nonsynonymous SNV	PTPRT:ENST00000620410.1:exon1:c.G134T:p.S45I,PTPRT:ENST00000356100.6:exon3:c.G347T:p.S116I,PTPRT:ENST00000373184.5:exon3:c.G347T:p.S116I,PTPRT:ENST00000373187.5:exon3:c.G347T:p.S116I,PTPRT:ENST00000373190.5:exon3:c.G347T:p.S116I,PTPRT:ENST00000373193.7:exon3:c.G347T:p.S116I,PTPRT:ENST00000373198.8:exon3:c.G347T:p.S116I,PTPRT:ENST00000373201.5:exon3:c.G347T:p.S116I
EGBC3	chr20	58221499	58221499	G	T	ANKRD60	Missense_Mutation	NM_001304369	exon3	c.C566A	p.S189Y	SNP	all_mutianno	exonic	ANKRD60	NA	nonsynonymous SNV	ANKRD60:NM_001304369:exon3:c.C566A:p.S189Y	exonic	ANKRD60	NA	nonsynonymous SNV	ANKRD60:ENST00000457363.1:exon3:c.C566A:p.S189Y
EGBC3	chr20	59191459	59191459	C	T	ZNF831	Missense_Mutation	NM_178457	exon2	c.C440T	p.P147L	SNP	all_mutianno	exonic	ZNF831	NA	nonsynonymous SNV	ZNF831:NM_178457:exon2:c.C440T:p.P147L,ZNF831:NM_001384354:exon4:c.C440T:p.P147L	exonic	ZNF831	NA	nonsynonymous SNV	ZNF831:ENST00000371030.3:exon1:c.C440T:p.P147L,ZNF831:ENST00000637017.1:exon4:c.C440T:p.P147L
EGBC3	chr21	30396141	30396141	C	A	KRTAP13-1	Missense_Mutation	NM_181599	exon1	c.C55A	p.L19M	SNP	all_mutianno	exonic	KRTAP13-1	NA	nonsynonymous SNV	KRTAP13-1:NM_181599:exon1:c.C55A:p.L19M	exonic	KRTAP13-1	NA	nonsynonymous SNV	KRTAP13-1:ENST00000355459.3:exon1:c.C55A:p.L19M
EGBC3	chr21	40353739	40353740	TG	T	DSCAM	Frame_Shift_Del	NM_001271534	exon5	c.659delC	p.P220Qfs*40	DEL	all_mutianno	exonic	DSCAM	NA	frameshift deletion	DSCAM:NM_001271534:exon5:c.659delC:p.P220Qfs*40,DSCAM:NM_001389:exon5:c.659delC:p.P220Qfs*40	exonic	DSCAM	NA	frameshift deletion	DSCAM:ENST00000617870.4:exon2:c.164delC:p.P55Qfs*40
EGBC3	chr22	17209527	17209527	C	G	ADA2	Missense_Mutation	NM_001282225	exon2	c.G151C	p.V51L	SNP	all_mutianno	exonic	ADA2	NA	nonsynonymous SNV	ADA2:NM_001282225:exon2:c.G151C:p.V51L,ADA2:NM_001282226:exon2:c.G151C:p.V51L,ADA2:NM_001282227:exon2:c.G25C:p.V9L,ADA2:NM_001282228:exon2:c.G25C:p.V9L	exonic	CECR1	NA	nonsynonymous SNV	CECR1:ENST00000262607.3:exon1:c.G151C:p.V51L,CECR1:ENST00000399839.5:exon2:c.G151C:p.V51L
EGBC3	chr22	44132958	44132958	G	T	PARVB	Missense_Mutation	NM_001243385	exon6	c.G471T	p.R157S	SNP	all_mutianno	exonic	PARVB	NA	nonsynonymous SNV	PARVB:NM_001243385:exon6:c.G471T:p.R157S,PARVB:NM_001243386:exon6:c.G426T:p.R142S,PARVB:NM_013327:exon6:c.G582T:p.R194S,PARVB:NM_001003828:exon7:c.G681T:p.R227S	exonic	PARVB	NA	nonsynonymous SNV	PARVB:ENST00000338758.11:exon6:c.G582T:p.R194S,PARVB:ENST00000404989.1:exon6:c.G471T:p.R157S,PARVB:ENST00000619710.4:exon6:c.G426T:p.R142S,PARVB:ENST00000406477.7:exon7:c.G681T:p.R227S
EGBC3	chr22	44883281	44883281	G	T	PHF21B	Missense_Mutation	NM_001242450	exon13	c.C1239A	p.S413R	SNP	all_mutianno	exonic	PHF21B	NA	nonsynonymous SNV	PHF21B:NM_001242450:exon13:c.C1239A:p.S413R,PHF21B:NM_138415:exon13:c.C1401A:p.S467R,PHF21B:NM_001135862:exon14:c.C1275A:p.S425R,PHF21B:NM_001284296:exon14:c.C789A:p.S263R	exonic	PHF21B	NA	nonsynonymous SNV	PHF21B:ENST00000396103.7:exon13:c.C1239A:p.S413R,PHF21B:ENST00000629843.2:exon13:c.C1275A:p.S425R,PHF21B:ENST00000403565.5:exon14:c.C789A:p.S263R
EGBC3	chrX	1389401	1389402	TC	T	SLC25A6	Frame_Shift_Del	NM_001636	exon2	c.437delG	p.G146Efs*17	DEL	all_mutianno	exonic	SLC25A6	NA	frameshift deletion	SLC25A6:NM_001636:exon2:c.437delG:p.G146Efs*17	exonic	SLC25A6	NA	unknown	UNKNOWN
EGBC3	chrX	5909207	5909207	C	A	NLGN4X	Missense_Mutation	NM_001282146	exon4	c.G658T	p.G220C	SNP	all_mutianno	exonic	NLGN4X	NA	nonsynonymous SNV	NLGN4X:NM_001282146:exon4:c.G658T:p.G220C,NLGN4X:NM_020742:exon4:c.G658T:p.G220C,NLGN4X:NM_181332:exon4:c.G658T:p.G220C,NLGN4X:NM_001282145:exon5:c.G658T:p.G220C	exonic	NLGN4X	NA	nonsynonymous SNV	NLGN4X:ENST00000275857.10:exon4:c.G658T:p.G220C,NLGN4X:ENST00000381093.6:exon4:c.G658T:p.G220C,NLGN4X:ENST00000381092.1:exon5:c.G658T:p.G220C
EGBC3	chrX	27747277	27747277	G	A	DCAF8L2	Missense_Mutation	NM_001353450	exon5	c.G382A	p.E128K	SNP	all_mutianno	exonic	DCAF8L2	NA	nonsynonymous SNV	DCAF8L2:NM_001353450:exon5:c.G382A:p.E128K,DCAF8L2:NM_001353449:exon6:c.G382A:p.E128K,DCAF8L2:NM_001353448:exon7:c.G382A:p.E128K	exonic	DCAF8L2	NA	nonsynonymous SNV	DCAF8L2:ENST00000545306.2:exon1:c.G382A:p.E128K,DCAF8L2:ENST00000451261.6:exon5:c.G382A:p.E128K
EGBC3	chrX	36379354	36379354	C	A	CFAP47	Missense_Mutation	NM_001304548	exon63	c.C9190A	p.P3064T	SNP	all_mutianno	exonic	CFAP47	NA	nonsynonymous SNV	CFAP47:NM_001304548:exon63:c.C9190A:p.P3064T	exonic	CFAP47	NA	unknown	UNKNOWN
EGBC3	chrX	64268882	64268882	C	A	MTMR8	Missense_Mutation	NM_017677	exon14	c.G1770T	p.R590S	SNP	all_mutianno	exonic	MTMR8	NA	nonsynonymous SNV	MTMR8:NM_017677:exon14:c.G1770T:p.R590S	exonic	MTMR8	NA	unknown	UNKNOWN
EGBC3	chrX	103082292	103082292	C	T	NXF3	Missense_Mutation	NM_022052	exon9	c.G853A	p.V285M	SNP	all_mutianno	exonic	NXF3	NA	nonsynonymous SNV	NXF3:NM_022052:exon9:c.G853A:p.V285M	exonic	NXF3	NA	unknown	UNKNOWN
EGBC3	chrX	135546815	135546815	C	CGAACCAGAGCAACTAGGGAGCGTACCAACT	INTS6L	In_Frame_Ins	NM_001351601	exon5	c.543_544insGAACCAGAGCAACTAGGGAGCGTACCAACT	p.T191_D192insEPEQLGSVPT	INS	all_mutianno	exonic	INTS6L	NA	nonframeshift insertion	INTS6L:NM_001351601:exon5:c.543_544insGAACCAGAGCAACTAGGGAGCGTACCAACT:p.T191_D192insEPEQLGSVPT,INTS6L:NM_001351603:exon5:c.543_544insGAACCAGAGCAACTAGGGAGCGTACCAACT:p.T191_D192insEPEQLGSVPT,INTS6L:NM_001351604:exon5:c.543_544insGAACCAGAGCAACTAGGGAGCGTACCAACT:p.T191_D192insEPEQLGSVPT,INTS6L:NM_001351605:exon5:c.543_544insGAACCAGAGCAACTAGGGAGCGTACCAACT:p.T191_D192insEPEQLGSVPT,INTS6L:NM_182540:exon5:c.543_544insGAACCAGAGCAACTAGGGAGCGTACCAACT:p.T191_D192insEPEQLGSVPT	exonic	INTS6L	NA	nonframeshift insertion	INTS6L:ENST00000370752.4:exon5:c.543_544insGAACCAGAGCAACTAGGGAGCGTACCAACT:p.T191_D192insEPEQLGSVPT,INTS6L:ENST00000639893.1:exon5:c.543_544insGAACCAGAGCAACTAGGGAGCGTACCAACT:p.T191_D192insEPEQLGSVPT
EGBC3	chrX	136345622	136345622	C	G	ADGRG4	Missense_Mutation	NM_153834	exon6	c.C1916G	p.T639R	SNP	all_mutianno	exonic	ADGRG4	NA	nonsynonymous SNV	ADGRG4:NM_153834:exon6:c.C1916G:p.T639R	exonic	ADGRG4	NA	nonsynonymous SNV	ADGRG4:ENST00000394141.1:exon3:c.C1301G:p.T434R,ADGRG4:ENST00000370652.5:exon4:c.C1916G:p.T639R,ADGRG4:ENST00000394143.5:exon6:c.C1916G:p.T639R
EGBC3	chrY	5100431	5100431	C	A	PCDH11Y	Nonsense_Mutation	NM_032972	exon2	c.C2853A	p.Y951X	SNP	all_mutianno	exonic	PCDH11Y	NA	stopgain	PCDH11Y:NM_032972:exon2:c.C2853A:p.Y951X,PCDH11Y:NM_032973:exon2:c.C2853A:p.Y951X,PCDH11Y:NM_032971:exon5:c.C2820A:p.Y940X,PCDH11Y:NM_001278619:exon6:c.C2820A:p.Y940X	exonic	PCDH11Y	NA	stopgain	PCDH11Y:ENST00000215473.7:exon2:c.C2853A:p.Y951X,PCDH11Y:ENST00000362095.9:exon2:c.C2853A:p.Y951X,PCDH11Y:ENST00000400457.3:exon2:c.C2853A:p.Y951X,PCDH11Y:ENST00000333703.8:exon5:c.C2820A:p.Y940X,PCDH11Y:ENST00000622698.4:exon6:c.C2820A:p.Y940X
EGBC3	chr19_GL949753v2_alt	319650	319650	C	A	LILRA4	Nonsense_Mutation	NM_012276	exon4	c.G442T	p.G148X	SNP	all_mutianno	exonic	LILRA4	NA	stopgain	LILRA4:NM_012276:exon4:c.G442T:p.G148X	exonic	LILRA4	NA	stopgain	LILRA4:ENST00000616790.1:exon4:c.G442T:p.G148X
EGBC1	chr2	208315374	208315374	G	C	PIKFYVE	Splice_Site	NA	NA	NA	NA	SNP	all_mutianno	splicing	PIKFYVE	NM_015040:exon15:c.2007+1G>C	NA	NA	splicing	PIKFYVE	ENST00000264380.8:exon15:c.2007+1G>C	NA	NA
EGBC1	chr15	86556286	86556286	G	C	AGBL1	Splice_Site	NA	NA	NA	NA	SNP	all_mutianno	splicing	AGBL1	NM_152336:exon22:c.3057+1G>C	NA	NA	splicing	AGBL1	ENST00000441037.7:exon22:c.3057+1G>C;ENST00000635782.1:exon20:c.2919+1G>C	NA	NA
EGBC1	chrX	136399847	136399847	G	A	ADGRG4	Splice_Site	NA	NA	NA	NA	SNP	all_mutianno	splicing	ADGRG4	NM_153834:exon21:c.8307-1G>A	NA	NA	splicing	ADGRG4	ENST00000394143.5:exon21:c.8307-1G>A;ENST00000370652.5:exon19:c.8307-1G>A;ENST00000394141.1:exon18:c.7692-1G>A	NA	NA
EGBC2	chr1	196673165	196673165	T	A	CFH	Splice_Site	NA	NA	NA	NA	SNP	all_mutianno	splicing	CFH	NM_001014975:exon2:c.244+2T>A;NM_000186:exon2:c.244+2T>A	NA	NA	splicing	CFH	ENST00000367429.8:exon2:c.244+2T>A;ENST00000630130.2:exon2:c.244+2T>A;ENST00000359637.2:exon2:c.244+2T>A	NA	NA
EGBC2	chr3	121664925	121664925	C	T	GOLGB1	Splice_Site	NA	NA	NA	NA	SNP	all_mutianno	splicing	GOLGB1	NM_001256488:exon20:c.9420+1G>A;NM_001256486:exon21:c.9675+1G>A;NM_001366284:exon20:c.9435+1G>A;NM_004487:exon21:c.9645+1G>A;NM_001256487:exon21:c.9543+1G>A;NM_001366283:exon20:c.9537+1G>A;NM_001366282:exon21:c.9660+1G>A	NA	NA	splicing	GOLGB1	ENST00000340645.9:exon21:c.9645+1G>A;ENST00000393667.7:exon21:c.9675+1G>A;ENST00000614479.4:exon20:c.9420+1G>A	NA	NA
EGBC2	chr4	6105969	6105969	T	A	JAKMIP1	Splice_Site	NA	NA	NA	NA	SNP	all_mutianno	splicing	JAKMIP1	NM_001099433:exon3:c.130-2A>T;NM_144720:exon3:c.130-2A>T;NM_001306133:exon3:c.130-2A>T	NA	NA	splicing	JAKMIP1	ENST00000409021.7:exon3:c.130-2A>T;ENST00000282924.9:exon3:c.130-2A>T;ENST00000409831.5:exon3:c.130-2A>T	NA	NA
EGBC2	chr8	138153217	138153217	C	A	FAM135B	Splice_Site	NA	NA	NA	NA	SNP	all_mutianno	splicing	FAM135B	NM_015912:exon13:c.1259-1G>T;NM_001362965:exon13:c.1259-1G>T	NA	NA	splicing	FAM135B	ENST00000395297.5:exon13:c.1259-1G>T	NA	NA
EGBC2	chr9	136498898	136498898	C	A	NOTCH1	Splice_Site	NA	NA	NA	NA	SNP	all_mutianno	splicing	NOTCH1	NM_017617:exon33:c.6180+1G>T	NA	NA	splicing	NOTCH1	ENST00000277541.6:exon33:c.6180+1G>T	NA	NA
EGBC2	chr11	103479093	103479093	A	G	DYNC2H1	Splice_Site	NA	NA	NA	NA	SNP	all_mutianno	splicing	DYNC2H1	NM_001080463:exon90:c.12787-2A>G;NM_001377:exon89:c.12766-2A>G	NA	NA	splicing	DYNC2H1	ENST00000375735.6:exon89:c.12766-2A>G;ENST00000334267.11:exon20:c.2605-2A>G;ENST00000398093.7:exon90:c.12787-2A>G	NA	NA
EGBC2	chr16	3532843	3532843	T	A	CLUAP1	Splice_Site	NA	NA	NA	NA	SNP	all_mutianno	splicing	CLUAP1	NM_001330454:exon11:c.1092+2T>A;NM_015041:exon11:c.1092+2T>A;NM_024793:exon7:c.594+2T>A	NA	NA	exonic;splicing	CLUAP1;CLUAP1	ENST00000576634.5:exon11:c.1092+2T>A;ENST00000341633.9:exon11:c.1092+2T>A;ENST00000572600.5:exon7:c.594+2T>A	nonsynonymous SNV	CLUAP1:ENST00000571025.5:exon11:c.T1094A:p.V365E
EGBC2	chr17	79947833	79947833	T	A	TBC1D16	Splice_Site	NA	NA	NA	NA	SNP	all_mutianno	splicing	TBC1D16	NM_001271844:exon5:c.417-2A>T;NM_001271845:exon5:c.456-2A>T;NM_019020:exon9:c.1542-2A>T;NM_001271846:exon5:c.456-2A>T	NA	NA	splicing	TBC1D16	ENST00000310924.6:exon9:c.1542-2A>T;ENST00000576768.5:exon5:c.417-2A>T;ENST00000340848.11:exon5:c.456-2A>T;ENST00000572862.5:exon5:c.456-2A>T;ENST00000570373.5:exon5:c.459-2A>T	NA	NA
EGBC2	chr19	51353291	51353291	C	T	ETFB	Splice_Site	NA	NA	NA	NA	SNP	all_mutianno	splicing	ETFB	NM_001014763:exon2:c.490-1G>A;NM_001985:exon3:c.217-1G>A	NA	NA	ncRNA_exonic;splicing	CTD-2616J11.9;CTD-2616J11.11;ETFB	ENST00000600067.1:exon3:c.275-1G>A;ENST00000600067.1:exon3:UTR3;ENST00000354232.8:exon2:c.490-1G>A;ENST00000309244.8:exon3:c.217-1G>A	NA	NA
EGBC2	chr22	49776160	49776160	C	T	BRD1	Splice_Site	NA	NA	NA	NA	SNP	all_mutianno	splicing	BRD1	NM_001349942:exon11:c.1580-1G>A;NM_001349941:exon10:c.3107-1G>A;NM_001349940:exon11:c.2876-1G>A;NM_001304809:exon11:c.2729-1G>A;NM_001304808:exon11:c.3122-1G>A	NA	NA	splicing	BRD1	ENST00000216267.12:exon10:c.2729-1G>A;ENST00000404034.5:exon11:c.2729-1G>A;ENST00000404760.5:exon11:c.3122-1G>A;ENST00000457780.3:exon10:c.3122-1G>A	NA	NA
EGBC3	chr1	152600706	152600706	G	T	LCE3C	Splice_Site	NA	NA	NA	NA	SNP	all_mutianno	splicing	LCE3C	NM_178434:exon2:UTR5	NA	NA	UTR5	LCE3C	ENST00000333881.3:c.-26G>T	NA	NA
EGBC3	chr1	186301591	186301591	G	A	PRG4	Splice_Site	NA	NA	NA	NA	SNP	all_mutianno	splicing	PRG4	NM_001127709:exon4:c.200-1G>A;NM_001127710:exon3:c.77-1G>A;NM_001127708:exon3:c.77-1G>A;NM_001303232:exon4:c.200-1G>A;NM_005807:exon4:c.200-1G>A	NA	NA	splicing	PRG4	ENST00000367483.8:exon3:c.77-1G>A;ENST00000367485.4:exon4:c.200-1G>A;ENST00000445192.6:exon4:c.200-1G>A;ENST00000635041.1:exon4:c.200-1G>A	NA	NA
EGBC3	chr2	25806341	25806341	C	A	ASXL2	Splice_Site	NA	NA	NA	NA	SNP	all_mutianno	splicing	ASXL2	NM_018263:exon3:c.141-1G>T	NA	NA	splicing	ASXL2	ENST00000336112.8:exon3:c.57-1G>T	NA	NA
EGBC3	chr5	100895786	100895786	C	A	ST8SIA4	Splice_Site	NA	NA	NA	NA	SNP	all_mutianno	splicing	ST8SIA4	NM_005668:exon2:c.114-1G>T;NM_175052:exon2:c.114-1G>T	NA	NA	splicing	ST8SIA4	ENST00000231461.9:exon2:c.114-1G>T;ENST00000451528.2:exon2:c.114-1G>T	NA	NA
EGBC3	chr7	107527235	107527235	A	C	COG5	Splice_Site	NA	NA	NA	NA	SNP	all_mutianno	splicing	COG5	NM_181733:exon6:c.538+2T>G;NM_006348:exon6:c.538+2T>G;NM_001379515:exon6:c.538+2T>G;NM_001379514:exon6:c.538+2T>G;NM_001379513:exon6:c.538+2T>G;NM_001379512:exon6:c.538+2T>G;NM_001379511:exon6:c.538+2T>G;NM_001161520:exon6:c.538+2T>G	NA	NA	splicing	COG5	ENST00000347053.7:exon6:c.631+2T>G;ENST00000297135.7:exon6:c.631+2T>G;ENST00000393603.6:exon6:c.631+2T>G	NA	NA
EGBC3	chr9	37515903	37515903	C	A	FBXO10	Splice_Site	NA	NA	NA	NA	SNP	all_mutianno	splicing	FBXO10	NM_012166:exon10:c.2696+1G>T	NA	NA	splicing	FBXO10	ENST00000432825.6:exon10:c.2696+1G>T	NA	NA
EGBC3	chr11	46894588	46894588	C	T	LRP4	Splice_Site	NA	NA	NA	NA	SNP	all_mutianno	splicing	LRP4	NM_002334:exon12:c.1540+1G>A	NA	NA	splicing	LRP4	ENST00000378623.5:exon12:c.1540+1G>A	NA	NA
EGBC3	chr12	72469757	72469757	G	T	TRHDE	Splice_Site	NA	NA	NA	NA	SNP	all_mutianno	splicing	TRHDE	NM_013381:exon4:c.1316-1G>T	NA	NA	splicing	TRHDE	ENST00000261180.8:exon4:c.1181-1G>T	NA	NA
EGBC3	chr12	103690539	103690539	G	T	STAB2	Splice_Site	NA	NA	NA	NA	SNP	all_mutianno	splicing	STAB2	NM_017564:exon30:c.3297+1G>T	NA	NA	splicing	STAB2	ENST00000388887.6:exon30:c.3297+1G>T	NA	NA
EGBC3	chr17	4710745	4710745	G	A	ARRB2	Splice_Site	NA	NA	NA	NA	SNP	all_mutianno	splicing	ARRB2	NM_001257331:exon1:c.23+1G>A;NM_001330064:exon1:UTR5;NM_004313:exon1:c.23+1G>A;NM_199004:exon1:c.23+1G>A;NM_001257329:exon1:c.23+1G>A;NM_001257328:exon1:c.23+1G>A;NM_001257330:exon1:c.23+1G>A	NA	NA	splicing	ARRB2	ENST00000269260.6:exon1:c.23+1G>A;ENST00000574954.5:exon1:UTR5;ENST00000346341.6:exon1:c.23+1G>A;ENST00000572457.5:exon1:UTR5;ENST00000381488.10:exon1:c.23+1G>A;ENST00000412477.7:exon1:c.23+1G>A;ENST00000575877.5:exon1:c.23+1G>A	NA	NA
EGBC3	chr19	1220372	1220372	G	T	STK11	Splice_Site	NA	NA	NA	NA	SNP	all_mutianno	splicing	STK11	NM_000455:exon4:c.465-1G>T	NA	NA	splicing	STK11	ENST00000586243.5:exon5:c.465-1G>T;ENST00000326873.11:exon4:c.465-1G>T	NA	NA
EGBC3	chr19	50280230	50280230	G	A	MYH14	Splice_Site	NA	NA	NA	NA	SNP	all_mutianno	splicing	MYH14	NM_001077186:exon31:c.4039-1G>A;NM_001145809:exon32:c.4138-1G>A;NM_024729:exon30:c.4015-1G>A	NA	NA	splicing	MYH14	ENST00000598205.5:exon31:c.4039-1G>A;ENST00000440075.6:exon19:UTR5;ENST00000376970.6:exon30:c.4015-1G>A;ENST00000425460.5:exon31:c.4039-1G>A;ENST00000601313.5:exon32:c.4138-1G>A;ENST00000596571.5:exon29:c.4015-1G>A;ENST00000262269.12:exon9:c.1027-1G>A	NA	NA
EGBC3	chr20	20505535	20505535	C	G	RALGAPA2	Splice_Site	NA	NA	NA	NA	SNP	all_mutianno	splicing	RALGAPA2	NM_020343:exon34:c.4929-1G>C	NA	NA	splicing	RALGAPA2	ENST00000202677.11:exon34:c.4929-1G>C;ENST00000620717.4:exon3:c.93-1G>C	NA	NA