GeneID_y	GeneA	Allele1GeneAcDNAchange	Allele2GeneAcDNAchange	GeneB	Allele1GeneBcDNAchange	Allele2GeneBcDNAchange	DiseaseName(ORPHANET)	OligogenicEffect	GeneRelationship
dd071	BBS2	c.209A>G	wild type	MKKS	c.110A>G	c.110A>G	Bardet-Biedl syndrome	N/A	"directly interacting, indirectly interacting, pathway membership, co-expression""	,"
dd072	BBS2	c.503dup	c.646C>T	MKKS	c.1495T>G	wild type	Bardet-Biedl syndrome	N/A	"directly interacting, indirectly interacting, pathway membership, co-expression""	,"
dd073	BBS2	c.72C>G	c.72C>G	MKKS	c.724G>T	wild type	Bardet-Biedl syndrome	N/A	"directly interacting, indirectly interacting, pathway membership, co-expression""	,"
dd074	BBS2	c.72C>G	c.175C>T	MKKS	c.442C>T	wild type	Bardet-Biedl syndrome	TD	"directly interacting, indirectly interacting, pathway membership, co-expression""	,"
dd075	BBS2	c.1673C>T	c.1673C>T	BBS4	c.1091C>A	c.1091C>A	Bardet-Biedl syndrome	TD	"directly interacting, indirectly interacting, pathway membership""	,,"
dd076	BBS1	c.700G>A	wild type	BBS7	c.632C>T	c.632C>T	Bardet-Biedl syndrome	N/A	"directly interacting, indirectly interacting, pathway membership, similar function""	,"
dd077	BBS1	c.1169T>G	wild type	BBS2	c.944G>A	c.117+1G>C	Bardet-Biedl syndrome	N/A	"directly interacting, indirectly interacting, pathway membership, similar function, co-expression""	"
dd078	BBS1	c.871C>T	c.1169T>G	MKKS	c.706T>C	wild type	Bardet-Biedl syndrome	N/A	"directly interacting, indirectly interacting, pathway membership, co-expression""	,"
dd079	BBS1	c.1169T>G	c.1642delC	MKKS	c.973A>C	wild type	Bardet-Biedl syndrome	N/A	"directly interacting, indirectly interacting, pathway membership, co-expression""	,"
dd080	BBS1	c.1169T>G	c.1169T>G	BBS2	c.1046T>G	wild type	Bardet-Biedl syndrome	N/A	"directly interacting, indirectly interacting, pathway membership, similar function, co-expression""	"
dd081	BBS1	c.1169T>G	c.1169T>G	BBS4	c.1414A>G	wild type	Bardet-Biedl syndrome	N/A	"directly interacting, indirectly interacting, pathway membership""	,,"
dd082	BBS2	c.1237C>T	wild type	BBS4	c.1508C>T	wild type	Bardet-Biedl syndrome	TD	"directly interacting, indirectly interacting, pathway membership""	,,"
dd083	BBS2	c.1928G>A	wild type	BBS4	c.137A>G	wild type	Bardet-Biedl syndrome	TD	"directly interacting, indirectly interacting, pathway membership""	,,"
dd084	BBS1	c.339T>G	c.1169T>G	CCDC28B	c.330C>T	wild type	Bardet-Biedl syndrome	CO	"directly interacting, indirectly interacting""	,,,"
dd085	BBS1	c.1169T>G	c.1645G>T	CCDC28B	c.330C>T	wild type	Bardet-Biedl syndrome	CO	"directly interacting, indirectly interacting""	,,,"
dd086	BBS7	c.187G>A	c.601+2T>C	BBS4	c.341delT	wild type	Bardet-Biedl syndrome	CO	"directly interacting, indirectly interacting, pathway membership""	,,"
dd087	BBS7	c.171G>A	wild type	BBS2	c.311A>C	c.1895G>C	Bardet-Biedl syndrome	N/A	"directly interacting, indirectly interacting, pathway membership, similar function""	,"
dd089	BBS5	c.551A>G	wild type	BBS10	c.273C>G	c.2119_2120delGT	Bardet-Biedl syndrome	N/A	"directly interacting, indirectly interacting, pathway membership""	,,"
dd090	BBS10	c.271dupT	c.1677C>A	MKKS	c.724G>T	wild type	Bardet-Biedl syndrome	N/A	"directly interacting, indirectly interacting, pathway membership, similar function""	,"
dd091	BBS10	c.164T>C	c.821_822delAG	BBS12	c.355G>A	wild type	Bardet-Biedl syndrome	N/A	"directly interacting, indirectly interacting, pathway membership, similar function""	,"
dd092	BBS10	c.164T>C	c.821_822delAG	BBS12	c.787T>C	wild type	Bardet-Biedl syndrome	N/A	"directly interacting, indirectly interacting, pathway membership, similar function""	,"
dd093	BBS10	c.271dupT	c.1230T>G	MKKS	c.724G>T	wild type	Bardet-Biedl syndrome	N/A	"directly interacting, indirectly interacting, pathway membership, similar function""	,"
dd094	BBS12	c.1438delG	c.1438delG	BBS4	c.1463C>A	wild type	Bardet-Biedl syndrome	N/A	"directly interacting, indirectly interacting, pathway membership, co-expression""	,"
dd095	BBS1	c.724-8_726delGTTTGCAGATG	c.1169T>G	BBS10	c.886G>A	wild type	Bardet-Biedl syndrome	N/A	"directly interacting, indirectly interacting, pathway membership""	,,"
dd096	BBS1	c.887delT	c.887delT	BBS10	c.2144A>G	wild type	Bardet-Biedl syndrome	N/A	"directly interacting, indirectly interacting, pathway membership""	,,"
dd097	BBS2	c.646C>T	c.72G>C	MKKS	c.724G>T	wild type	Bardet-Biedl syndrome	N/A	"directly interacting, indirectly interacting, pathway membership, co-expression""	,"
dd098	BBS2	c.646C>T	c.661delC	MKKS	c.724G>T	wild type	Bardet-Biedl syndrome	N/A	"directly interacting, indirectly interacting, pathway membership, co-expression""	,"
dd099	BBS10	c.765G>A	wild type	BBS2	c.661delC	c.661delC	Bardet-Biedl syndrome	N/A	"directly interacting, indirectly interacting, pathway membership""	,,"
dd100	BBS2	c.661delC	c.1705C>T	BBS12	c.1223A>G	wild type	Bardet-Biedl syndrome	N/A	"directly interacting, indirectly interacting, pathway membership, co-expression""	,"
dd101	BBS2	c.256_278dup	c.256_278dup	BBS12	c.1571A>G	wild type	Bardet-Biedl syndrome	N/A	"directly interacting, indirectly interacting, pathway membership, co-expression""	,"
dd102	BBS10	c.271dupT	c.271dupT	MKKS	c.1015A>G	wild type	Bardet-Biedl syndrome	N/A	"directly interacting, indirectly interacting, pathway membership, similar function""	,"
dd103	BBS10	c.271dupT	c.1867C>T	BBS2	c.1885G>A	wild type	Bardet-Biedl syndrome	N/A	"directly interacting, indirectly interacting, pathway membership""	,,"
dd104	BBS10	c.145C>T	c.145C>T	MKKS	c.724G>T	wild type	Bardet-Biedl syndrome	N/A	"directly interacting, indirectly interacting, pathway membership, similar function""	,"
dd105	BBS1	c.1645G>T	c.1645G>T	BBS2	c.1659+3A>G	wild type	Bardet-Biedl syndrome	N/A	"directly interacting, indirectly interacting, pathway membership, similar function, co-expression""	"
dd106	BBS1	c.1473+4A>G	c.1473+4A>G	TTC8	c.1011C>G	wild type	Bardet-Biedl syndrome	N/A	"directly interacting, indirectly interacting, pathway membership, co-expression""	,"
dd107	BBS1	c.1169T>G	c.1645G>T	BBS9	c.396G>C	wild type	Bardet-Biedl syndrome	N/A	"directly interacting, indirectly interacting, pathway membership, co-expression""	,"
dd108	BBS10	c.1598_1601delTAAC	c.1598_1601delTAAC	BBS12	c.355G>A	wild type	Bardet-Biedl syndrome	N/A	"directly interacting, indirectly interacting, pathway membership, similar function""	,"
dd109	BBS10	c.1090delA	c.1090delA	MKKS	c.926G>A	wild type	Bardet-Biedl syndrome	N/A	"directly interacting, indirectly interacting, pathway membership, similar function""	,"
dd110	BBS10	c.1333C>A	wild type	BBS2	c.311A>C	c.1895G>C	Bardet-Biedl syndrome	N/A	"directly interacting, indirectly interacting, pathway membership""	,,"
dd111	ARL6	c.92C>T	c.92C>T	TTC8	c.405G>A	wild type	Bardet-Biedl syndrome	N/A	"directly interacting, indirectly interacting, pathway membership, co-expression""	,"
dd112	BBS7	c.632C>T	c.632C>T	TTC8	c.284A>G	wild type	Bardet-Biedl syndrome	N/A	"directly interacting, indirectly interacting, pathway membership""	,,"
dd113	BBS1	c.1535G>A	wild type	BBS12	c.2023C>T	c.476C>T	Bardet-Biedl syndrome	N/A	"directly interacting, indirectly interacting, pathway membership, co-expression""	,"
dd204	BBS1	c.1169T>G	c.1169T>G	CCDC28B	c.330C>T	wild type	Bardet-Biedl syndrome	TD	"directly interacting, indirectly interacting""	,,,"
dd010	NEK1	c.1640insA	wild type	DYNC2H1	c.11747G>A	wild type	Short rib-polydactyly syndrome	TD	"none,,,,"
dd211	MYH7	c.2645A>G	wild type	RBM20	c.2062C>T	wild type	Familial isolated dilated cardiomyopathy	N/A	"none,,,,"
dd216	DSP	c.740C>T	wild type	TTN	c.9359G>A	c.93319C>T	Familial isolated dilated cardiomyopathy	N/A	"directly interacting, indirectly interacting""	,,,"
dd209	DSP	c.1941A>C	wild type	TTN	c.28269C>G	wild type	Familial isolated hypertrophic cardiomyopathy	N/A	"directly interacting, indirectly interacting""	,,,"
dd210	MYH7	c.4343A>T	wild type	NEXN	c.620A>G	wild type	Familial isolated hypertrophic cardiomyopathy	N/A	"indirectly interacting,,,,"
dd217	NEXN	c.995A>C	wild type	TTN	c.6910G>A	c.40485G>T	Familial isolated hypertrophic cardiomyopathy	N/A	"indirectly interacting, similar function""	,,,"
dd040	GDAP1	c.358C>T	wild type	MFN2	c.479_480delTG	wild type	Charcot-Marie-Tooth disease	CO	"indirectly interacting, co-expression""	,,,"
dd152	GDAP1	c.487C>T	c.487C>T	MFN2	c.1403G>A	wild type	Charcot-Marie-Tooth disease	CO	"indirectly interacting, co-expression""	,,,"
dd160	EMD	c.110_112delAGA	wild type	LMNA	c.892C>T	c.892C>T	Charcot-Marie-Tooth disease	CO	"directly interacting, indirectly interacting, pathway membership""	,,"
dd224	TRIM54	c.[316G>A]	wild type	TRIM63	c.[739C>T]	c.[739C>T]	Congenital myopathy with protein accumulation	TD	"directly interacting, indirectly interacting, similar function""	,,"
dd014	GNRHR	c.317A>G	c.785G>A	FGFR1	c.1409G>T	wild type	Congenital hypogonadotropic hypogonadism	N/A	"co-expression,,,,"
dd021	OTUD4	c.998G>T	c.998G>T	RNF216	c.2251C>T	c.2251C>T	Congenital hypogonadotropic hypogonadism	TD	"indirectly interacting,,,,"
dd137	KAL1	c.1759G>T	wild type	FGFR1	c.1553-2A>G	wild type	Congenital hypogonadotropic hypogonadism	N/A	"directly interacting, indirectly interacting, pathway membership, similar function""	,"
dd139	KAL1	c.1414A>G	wild type	PROKR2	c.151G>A	wild type	Congenital hypogonadotropic hypogonadism	N/A	"none,,,,"
dd208	GNRHR	c.268G>A	c.268G>A	PROK2	c.349C>T	wild type	Congenital hypogonadotropic hypogonadism	N/A	"pathway membership, co-expression""	,,,"
dd033	SLC3A1	c.1400T>C	wild type	SLC7A9	c.695A>G	c.313G>A	Cystinuria	CO	"pathway membership, co-expression""	,,,"
dd034	SLC3A1	c.1400T>C	wild type	SLC7A9	c.313G>A	c.313G>A	Cystinuria	CO	"pathway membership, co-expression""	,,,"
dd035	SLC3A1	c.1400T>C	wild type	SLC7A9	c.313G>A	wild type	Cystinuria	CO	"pathway membership, co-expression""	,,,"
dd036	SLC3A1	c.647C>T	c.1400T>C	SLC7A9	c.313G>A	wild type	Cystinuria	CO	"pathway membership, co-expression""	,,,"
dd241	SHH	c.[1040C>A]	wild type	DISP1	c.[3287T>C]	wild type	Holoprosencephaly	TD	"co-expression,,,,"
dd051	HAMP	c.148_150+2delATGGT	wild type	HFE	c.845G>A	wild type	Rare hereditary hemochromatosis	TD	"co-expression,,,,"
dd052	HAMP	c.212G>A	wild type	HFE	c.845G>A	c.845G>A	Rare hereditary hemochromatosis	CO	"co-expression,,,,"
dd125	EDA	c.769G>C	wild type	WNT10A	c.511C>T	wild type	Hypodontia	CO	"none,,,,"
dd126	EDA	c.936C>G	wild type	WNT10A	c.511C>T	wild type	Hypodontia	CO	"none,,,,"
dd127	EDA	c.252delT	wild type	WNT10A	c.511C>T	wild type	Hypodontia	N/A	"none,,,,"
dd128	EDA	c.457C>T	wild type	WNT10A	c.637G>A	wild type	Hypodontia	CO	"none,,,,"
dd129	EDA	c.466C>T	wild type	WNT10A	c.637G>A	wild type	Hypodontia	N/A	"none,,,,"
dd130	EDA	c.1045G>A	wild type	WNT10A	c.511C>T	wild type	Hypodontia	N/A	"none,,,,"
dd019	BAAT	c.226A>G	wild type	TJP2	c.143T>C	c.143T>C	Familial hypercholanemia	CO	"indirectly interacting,,,,"
dd020	BAAT	c.226A>G	c.226A>G	TJP2	c.143T>C	wild type	Familial hypercholanemia	CO	"indirectly interacting,,,,"
dd122	NOD2	c.2857A>G	wild type	IL10RA	c.475A>G	c.1051A>G	Autosomal recessive early-onset inflammatory bowel disease	N/A	"co-expression,,,,"
dd212	JUP	c.1130G>A	wild type	DSP	c.38C>T	wild type	Arrhythmogenic right ventricular dysplasia	N/A	"directly interacting, indirectly interacting, pathway membership""	,,"
dd213	JUP	c.1393C>T	wild type	DSP	c.1282_1283insA	wild type	Arrhythmogenic right ventricular dysplasia	N/A	"directly interacting, indirectly interacting, pathway membership""	,,"
dd042	C10orf2	c.1001G>A	wild type	POLG	c.2542G>A	wild type	Autosomal dominant progressive external ophthalmoplegia	N/A	"indirectly interacting,,,,"
dd205	C10orf2	c.1142T>C	wild type	POLG	c.2831A>G	wild type	Autosomal dominant progressive external ophthalmoplegia	N/A	"indirectly interacting,,,,"
dd038	EMD	c.110_112delAGA	wild type	LMNA	c.892C>T	c.892C>T	Emery-Dreifuss muscular dystrophy	CO	"directly interacting, indirectly interacting, pathway membership""	,,"
dd039	EMD	c.315T>G	wild type	LMNA	c.976T>A	wild type	Emery-Dreifuss muscular dystrophy	CO	"directly interacting, indirectly interacting, pathway membership""	,,"
dd218	BMPR2	c.1471C>T	wild type	KCNA5	c.1448del	wild type	Heritable pulmonary arterial hypertension	CO	"indirectly interacting,,,,"
dd023	PARK7	c.115G>T	wild type	PINK1	c.1196C>T	wild type	Young-onset Parkinson disease	TD	"directly interacting, indirectly interacting, pathway membership""	,,"
dd024	PARK2	c.523delA	c.523delA	PINK1	c.170_175dup	wild type	Young-onset Parkinson disease	CO	"directly interacting, indirectly interacting, pathway membership""	,,"
dd047	KRT5	c.548T>C	wild type	KRT14	c.1163G>A	wild type	Epidermolysis bullosa simplex	CO	"directly interacting, indirectly interacting, pathway membership, similar function, co-expression""	"
dd252	KRT5	c.[464T>C]	wild type	KRT14	c.[881T>C]	wild type	Epidermolysis bullosa simplex	TD	"directly interacting, indirectly interacting, pathway membership, similar function, co-expression""	"
dd253	KRT5	c.[1412G>A]	wild type	KRT14	c.[815T>C]	wild type	Epidermolysis bullosa simplex	CO	"directly interacting, indirectly interacting, pathway membership, similar function, co-expression""	"
dd031	COL17A1	c.2564T>G	c.3676C>T	LAMB3	c.1903C>T	wild type	Junctional epidermolysis bullosa	N/A	"pathway membership, co-expression""	,,,"
dd207	ATP2B3	c.1445G>A	wild type	LAMA1	c.6074C>T	c.7141C>T	X-linked non progressive cerebellar ataxia	TD	"co-expression,,,,"
dd225	PSMA3	c.[696_698delAAG]	wild type	PSMB8	c.[224C>T]	wild type	CANDLE syndrome	TD	"directly interacting, indirectly interacting, pathway membership, similar function""	,"
dd226	PSMA3	c.[404+2T>G]	wild type	PSMB8	c.[224C>T]	wild type	CANDLE syndrome	TD	"directly interacting, indirectly interacting, pathway membership, similar function""	,"
dd227	PSMB4	c.[44insG]	wild type	PSMB9	c.[494G>A]	wild type	CANDLE syndrome	TD	"directly interacting, indirectly interacting, pathway membership, similar function""	,"
dd228	PSMB4	c.[666C>A]	wild type	PSMB8	c.[313A>C]	wild type	CANDLE syndrome	TD	"directly interacting, indirectly interacting, pathway membership, similar function""	,"
dd158	EMD	c.110_112delAGA	wild type	LMNA	c.892C>T	wild type	Familial atrial fibrillation	CO	"directly interacting, indirectly interacting, pathway membership""	,,"
dd159	EMD	c.110_112delAGA	wild type	LMNA	c.892C>T	wild type	Familial atrial fibrillation	CO	"directly interacting, indirectly interacting, pathway membership""	,,"
dd243	NLRP3	c.[592G>A]	wild type	MEFV	c.[2177T>C]	wild type	Familial Mediterranean fever	TD	"directly interacting, indirectly interacting, pathway membership, similar function, co-expression""	"
dd244	NLRP3	c.[526C>T]	wild type	MEFV	c.[442G>C]	wild type	Familial Mediterranean fever	TD	"directly interacting, indirectly interacting, pathway membership, similar function, co-expression""	"
dd245	TNFRSF1A	c.[362G>A]	wild type	MEFV	c.[2080A>G]	wild type	Familial Mediterranean fever	TD	"similar function,,,,"
dd028	MITF	c.824delA	wild type	TYR	c.1205G>A	wild type	Ocular albinism with congenital sensorineural deafness	N/A	"pathway membership,,,,"
dd043	SCN1A	c.5054C>T	wild type	SCN2A	c.1571G>A	wild type	Generalized epilepsy with febrile seizures-plus	CO	"pathway membership, similar function, co-expression""	,,"
dd135	PYGM	c.148C>T	wild type	CPT2	c.338C>T	wild type	Glycogen storage disease due to muscle glycogen phosphorylase deficiency	N/A	"none,,,,"
dd022	EDNRB	c.914G>A	wild type	RET	c.1941C>T	wild type	Hirschsprung disease	TD	"co-expression,,,,"
dd148	GDNF	c.277C>T	wild type	RET	c.2379delC	wild type	Hirschsprung disease	TD	"directly interacting, indirectly interacting, pathway membership""	,,"
dd138	GNRHR	c.247C>G	c.317A>G	FGFR1	c.350A>G	wild type	Normosmic congenital hypogonadotropic hypogonadism	N/A	"co-expression,,,,"
dd140	KISS1R	c.565G>A	wild type	FGFR1	c.682T>G	wild type	Normosmic congenital hypogonadotropic hypogonadism	N/A	"none,,,,"
dd141	PROK2	c.70G>C	wild type	PROKR2	c.343G>A	wild type	Normosmic congenital hypogonadotropic hypogonadism	N/A	"pathway membership,,,,"
dd261	TRAPPC9	c.[1532T>C]	wild type	PDE3A	c.[1477G>A]	wild type	Normosmic congenital hypogonadotropic hypogonadism	TD	"none,,,,"
dd088	CEP41	c.423-2A>C	c.423-2A>C	CEP290	c.3626C>G	wild type	Joubert syndrome	N/A	"pathway membership, co-expression""	,,,"
dd012	KAL1	c.1187C>T	wild type	PROKR2	c.518T>G	wild type	Kallmann syndrome	N/A	"none,,,,"
dd013	NSMF	c.1132-22_1132-15del	wild type	FGFR1	c.1025T>C	wild type	Kallmann syndrome	CO	"none,,,,"
dd015	KAL1	c.1540G>A	wild type	PROKR2	c.518T>G	wild type	Kallmann syndrome	N/A	"none,,,,"
dd016	NSMF	c.757G>A	wild type	KAL1	c.488_490delGTT	wild type	Kallmann syndrome	N/A	"none,,,,"
dd017	NSMF	c.1160-13C>T	wild type	TACR3	c.824G>A	wild type	Kallmann syndrome	N/A	"none,,,,"
dd018	FGFR1	c.165_171del	wild type	PROKR2	c.518T>G	wild type	Kallmann syndrome	CO	"none,,,,"
dd136	KAL1	c.1267C>T	wild type	PROKR2	c.518T>G	wild type	Kallmann syndrome	CO	"none,,,,"
dd142	KAL1	c.1414A>G	wild type	FGFR1	c.854C>G	wild type	Kallmann syndrome	N/A	"directly interacting, indirectly interacting, pathway membership, similar function""	,"
dd143	KAL1	c.1627G>A	wild type	CHD7	c.2440C>T	wild type	Kallmann syndrome	N/A	"none,,,,"
dd164	FGFR1	c.1042G>A	wild type	IL17RD	c.1136A>G	wild type	Kallmann syndrome	TD	"directly interacting, co-expression""	,,,"
dd165	KISS1R	c.581C>A	wild type	IL17RD	c.2204C>T	wild type	Kallmann syndrome	N/A	"none,,,,"
dd166	FGFR1	c.2075A>G	wild type	DUSP6	c.545C>T	wild type	Kallmann syndrome	N/A	"pathway membership,,,,"
dd167	SPRY4	c.722C>A	wild type	DUSP6	c.566A>G	wild type	Kallmann syndrome	N/A	"none,,,,"
dd168	SPRY4	c.722C>A	wild type	DUSP6	c.1037C>T	wild type	Kallmann syndrome	N/A	"none,,,,"
dd169	SPRY4	c.722C>A	wild type	FGFR1	c.1447C>A	wild type	Kallmann syndrome	N/A	"indirectly interacting, co-expression""	,,,"
dd170	FGFR1	c.2008G>A	wild type	FLRT3	c.205C>A	wild type	Kallmann syndrome	N/A	"directly interacting, pathway membership, similar function, co-expression""	,"
dd201	FGFR1	c.1810G>A	wild type	PROKR2	c.254G>T	wild type	Kallmann syndrome	N/A	"none,,,,"
dd202	KISS1R	c.565G>A	wild type	PROKR2	c.802C>T	wild type	Kallmann syndrome	N/A	"pathway membership, similar function""	,,,"
dd203	GNRHR	c.719G>A	wild type	PROKR2	c.991G>A	wild type	Kallmann syndrome	N/A	"pathway membership, similar function""	,,,"
dd173	PRF1	c.1310C>T	wild type	UNC13D	c.169G>T	wild type	Familial hemophagocytic lymphohistiocytosis	TD	"similar function,,,,"
dd174	PRF1	c.272C>T	wild type	UNC13D	c.2709+6G>T	wild type	Familial hemophagocytic lymphohistiocytosis	TD	"similar function,,,,"
dd175	PRF1	c.992C>T	wild type	UNC13D	c.1232G>A	wild type	Familial hemophagocytic lymphohistiocytosis	TD	"similar function,,,,"
dd176	PRF1	c.272C>T	wild type	UNC13D	c.227C>T	wild type	Familial hemophagocytic lymphohistiocytosis	TD	"similar function,,,,"
dd177	PRF1	c.272C>T	wild type	UNC13D	c.869C>T	wild type	Familial hemophagocytic lymphohistiocytosis	TD	"similar function,,,,"
dd178	PRF1	c.272C>T	wild type	UNC13D	c.2243C>T	wild type	Familial hemophagocytic lymphohistiocytosis	TD	"similar function,,,,"
dd179	PRF1	c.1229G>A	wild type	UNC13D	c.1036G>A	wild type	Familial hemophagocytic lymphohistiocytosis	TD	"similar function,,,,"
dd180	PRF1	c.272C>T	wild type	UNC13D	c.3160A>G	wild type	Familial hemophagocytic lymphohistiocytosis	TD	"similar function,,,,"
dd181	PRF1	c.10C>T	wild type	UNC13D	c.3232G>C	wild type	Familial hemophagocytic lymphohistiocytosis	TD	"similar function,,,,"
dd182	PRF1	c.272C>T	wild type	UNC13D	c.2896C>T	wild type	Familial hemophagocytic lymphohistiocytosis	TD	"similar function,,,,"
dd184	PRF1	c.50delT	wild type	UNC13D	c.1579C>T	wild type	Familial hemophagocytic lymphohistiocytosis	TD	"similar function,,,,"
dd185	PRF1	c.445G>A	wild type	UNC13D	c.2896C>T	wild type	Familial hemophagocytic lymphohistiocytosis	TD	"similar function,,,,"
dd187	PRF1	c.272C>T	wild type	UNC13D	c.182A>G	wild type	Familial hemophagocytic lymphohistiocytosis	TD	"similar function,,,,"
dd188	PRF1	c.272C>T	wild type	STXBP2	c.1034C>T	wild type	Familial hemophagocytic lymphohistiocytosis	TD	"co-expression,,,,"
dd190	PRF1	c.655T>A	wild type	STXBP2	c.1034C>T	wild type	Familial hemophagocytic lymphohistiocytosis	TD	"co-expression,,,,"
dd191	PRF1	c.272C>T	wild type	STXBP2	c.1586G>C	wild type	Familial hemophagocytic lymphohistiocytosis	TD	"co-expression,,,,"
dd192	PRF1	c.50delT	wild type	STXBP2	c.1459G>A	wild type	Familial hemophagocytic lymphohistiocytosis	TD	"co-expression,,,,"
dd193	PRF1	c.272C>T	wild type	STXBP2	c.795-4C>T	wild type	Familial hemophagocytic lymphohistiocytosis	TD	"co-expression,,,,"
dd194	STXBP2	c.911C>T	wild type	UNC13D	c.2896C>T	wild type	Familial hemophagocytic lymphohistiocytosis	TD	"none,,,,"
dd195	STXBP2	c.*12G>A	wild type	UNC13D	c.1389+1G>A	wild type	Familial hemophagocytic lymphohistiocytosis	TD	"none,,,,"
dd196	STXBP2	c.*12G>A	wild type	UNC13D	c.2896C>T	wild type	Familial hemophagocytic lymphohistiocytosis	TD	"none,,,,"
dd197	STXBP2	c.715C>T	wild type	UNC13D	c.2896C>T	wild type	Familial hemophagocytic lymphohistiocytosis	TD	"none,,,,"
dd198	STX11	c.221C>T	wild type	UNC13D	c.2030T>C	wild type	Familial hemophagocytic lymphohistiocytosis	TD	"none,,,,"
dd199	STXBP2	c.568C>T	wild type	STX11	c.9C>A	wild type	Familial hemophagocytic lymphohistiocytosis	TD	"directly interacting, indirectly interacting""	,,,"
dd200	RAB27A	c.295T>G	wild type	STXBP2	c.1034C>T	wild type	Familial hemophagocytic lymphohistiocytosis	TD	"indirectly interacting, co-expression""	,,,"
dd171	ITGA7	c.2656G>A	c.2656G>A	MYH7B	c.2668C>T	c.2668C>T	Left ventricular non-compaction	N/A	"co-expression,,,,"
dd215	ABCC9	c.3594G>A	wild type	TTN	c.9359G>A	c.93319C>T	Left ventricular non-compaction	N/A	"indirectly interacting, co-expression""	,,,"
dd029	TYR	c.1467dupT	c.1205G>A	OCA2	c.1327G>A	wild type	Oculocutaneous albinism	CO	"pathway membership,,,,"
dd030	TYR	c.1037-7T>A	wild type	OCA2	c.79G>A	c.79G>A	Oculocutaneous albinism	CO	"pathway membership,,,,"
dd117	TYR	c.230G>A	wild type	SLC45A2	c.1045G>A	wild type	Oculocutaneous albinism	TD	"pathway membership,,,,"
dd118	TYR	c.832C>T	wild type	SLC45A2	c.478G>C	wild type	Oculocutaneous albinism	TD	"pathway membership,,,,"
dd119	OCA2	c.2497G>T	wild type	SLC45A2	c.478G>C	c.478G>C	Oculocutaneous albinism	TD	"pathway membership, co-expression""	,,,"
dd120	TYR	c.1205G>A	wild type	SLC45A2	c.563G>A	wild type	Oculocutaneous albinism	TD	"pathway membership,,,,"
dd121	TYR	c.346C>T	wild type	OCA2	c.1441G>A	wild type	Oculocutaneous albinism	TD	"pathway membership,,,,"
dd172	HNF4A	c.400C>T	wild type	HNF1A	c.872dup	wild type	MODY	CO	"directly interacting, indirectly interacting, pathway membership, co-expression""	,"
dd219	NEUROD1	c.-162G>A	wild type	PDX1	c.670G>A	wild type	MODY	CO	"directly interacting, indirectly interacting, pathway membership""	,,"
dd220	NEUROD1	c.723C>G	wild type	PDX1	c.670G>A	wild type	MODY	CO	"directly interacting, indirectly interacting, pathway membership""	,,"
dd254	BMP15	c.[13A>C]	wild type	SMC1B	c.[3530A>T]	wild type	Primary ovarian insufficiency	CO	"none,,,,"
dd255	REC8	c.[461A>G]	wild type	GDF9	c.[1360C>T]	wild type	Primary ovarian insufficiency	CO	"co-expression,,,,"
dd256	GALT	c.[776G>A]	wild type	FOXL2	c.[13T>A]	wild type	Primary ovarian insufficiency	CO	"none,,,,"
dd257	FIGLA	c.[122C>T]	wild type	GDF9	c.[307C>T]	wild type	Primary ovarian insufficiency	CO	"none,,,,"
dd258	BMP15	c.[13A>C]	wild type	NOBOX	c.[1112A>C]	wild type	Primary ovarian insufficiency	CO	"none,,,,"
dd259	NOBOX	c.[271G>T]	c.[1856C>T]	SMC1B	c.[662T>C]	wild type	Primary ovarian insufficiency	CO	"none,,,,"
dd260	BMP15	c.[13A>C]	wild type	NOBOX	c.[271G>T]	wild type	Primary ovarian insufficiency	CO	"none,,,,"
dd123	LMBRD1	c.1056delG	wild type	MTR	c.3518C>T	wild type	Homocystinuria without methylmalonic aciduria	TD	"pathway membership,,,,"
dd230	COL4A4	c.[1553G>A]	wild type	COL4A3	c.[2746+1G>T]	wild type	Alport syndrome	CO	"indirectly interacting, pathway membership, similar function, co-expression""	,"
dd231	COL4A4	c.[3452G>C]	wild type	COL4A3	c.[898G>A]	wild type	Alport syndrome	CO	"indirectly interacting, pathway membership, similar function, co-expression""	,"
dd232	COL4A4	c.[4698delT]	wild type	COL4A3	c.[1558G>C]	wild type	Alport syndrome	CO	"indirectly interacting, pathway membership, similar function, co-expression""	,"
dd233	COL4A4	c.[1293_1310del]	wild type	COL4A3	c.[1504+1G>A]	wild type	Alport syndrome	CO	"indirectly interacting, pathway membership, similar function, co-expression""	,"
dd234	COL4A4	c.[1459+1G>A]	wild type	COL4A3	c.[2065G>A]	wild type	Alport syndrome	CO	"indirectly interacting, pathway membership, similar function, co-expression""	,"
dd235	COL4A5	c.[2858G>T]	wild type	COL4A4	c.[3817+1G>T]	wild type	Alport syndrome	CO	"indirectly interacting, pathway membership, similar function, co-expression""	,"
dd236	COL4A5	c.[1931G>A]	wild type	COL4A4	c.[2075G>T]	wild type	Alport syndrome	CO	"indirectly interacting, pathway membership, similar function, co-expression""	,"
dd237	COL4A5	c.[4042G>A]	wild type	COL4A4	c.[2164G>A]	wild type	Alport syndrome	CO	"indirectly interacting, pathway membership, similar function, co-expression""	,"
dd238	COL4A5	c.[2051G>T]	wild type	COL4A4	c.[1623+5G>T]	c.[4760C>G]	Alport syndrome	CO	"indirectly interacting, pathway membership, similar function, co-expression""	,"
dd246	COL4A4	c.[931-2A>G]	wild type	COL4A3	c.[3829G>A]	wild type	Alport syndrome	N/A	"indirectly interacting, pathway membership, similar function, co-expression""	,"
dd247	COL4A4	c.[3697G>A]	wild type	COL4A3	c.[3829G>A]	wild type	Alport syndrome	N/A	"indirectly interacting, pathway membership, similar function, co-expression""	,"
dd248	COL4A5	c.[2605G>A]	wild type	COL4A3	c.[3829G>A]	wild type	Alport syndrome	N/A	"indirectly interacting, pathway membership, similar function, co-expression""	,"
dd249	COL4A4	c.[5045G>A]	wild type	COL4A3	c.[4523A>G]	wild type	Alport syndrome	CO	"indirectly interacting, pathway membership, similar function, co-expression""	,"
dd250	COL4A5	c.[780+5G>A]	wild type	COL4A4	c.[976-56A>G]	wild type	Alport syndrome	TD	"indirectly interacting, pathway membership, similar function, co-expression""	,"
dd251	COL4A5	c.[2732G>A]	wild type	COL4A3	c.[3691G>A]	wild type	Alport syndrome	CO	"indirectly interacting, pathway membership, similar function, co-expression""	,"
dd011	NPHS2	c.413G>A	c.413G>A	NPHS1	c.275-2A>C	wild type	Familial idiopathic steroid-resistant nephrotic syndrome	CO	"directly interacting, indirectly interacting, pathway membership""	,,"
dd114	CD2AP	c.1488G>A	wild type	NPHS2	c.622G>A	wild type	Familial idiopathic steroid-resistant nephrotic syndrome	TD	"directly interacting, indirectly interacting, pathway membership""	,,"
dd115	NPHS2	c.413G>A	c.948delT	NPHS1	c.791C>G	wild type	Familial idiopathic steroid-resistant nephrotic syndrome	TD	"directly interacting, indirectly interacting, pathway membership""	,,"
dd116	WT1	c.1228+5G>A	wild type	NPHS1	c.1126C>G	wild type	Familial idiopathic steroid-resistant nephrotic syndrome	TD	"indirectly interacting, co-expression""	,,,"
dd131	NPHS2	c.686G>A	wild type	NPHS1	c.2335-1G>A	c.2335-1G>A	Familial idiopathic steroid-resistant nephrotic syndrome	N/A	"directly interacting, indirectly interacting, pathway membership""	,,"
dd132	NPHS2	c.436delA	c.436delA	NPHS1	c.563A>T	wild type	Familial idiopathic steroid-resistant nephrotic syndrome	N/A	"directly interacting, indirectly interacting, pathway membership""	,,"
dd133	NPHS2	c.413G>A	c.413G>A	NPHS1	c.1930+11C>A	c.1930+11C>A	Familial idiopathic steroid-resistant nephrotic syndrome	N/A	"directly interacting, indirectly interacting, pathway membership""	,,"
dd041	ALAD	c.36C>G	wild type	CPOX	c.835G>C	wild type	Porphyria	CO	"indirectly interacting, pathway membership, co-expression""	,,"
dd050	HMBS	c.422+1G>T	wild type	UROD	c.650_651dupTT	wild type	Porphyria	CO	"pathway membership, co-expression""	,,,"
dd045	GGCX	c.763G>A	wild type	ABCC6	c.3421C>T	wild type	Pseudoxanthoma elasticum	N/A	"co-expression,,,,"
dd001	KCNQ1	c.1022C>A	wild type	KCNH2	c.2592+1G>A	wild type	Familial long QT syndrome	CO	"indirectly interacting, pathway membership, similar function, co-expression""	,"
dd048	KCNE2	c.178T>C	wild type	SCN5A	c.4868G>A	wild type	Familial long QT syndrome	CO	"co-expression,,,,"
dd053	KCNE1	c.379C>A	wild type	KCNQ1	c.1022C>T	wild type	Familial long QT syndrome	N/A	"directly interacting, indirectly interacting, pathway membership, co-expression""	,"
dd054	KCNE1	c.253G>A	wild type	KCNQ1	c.502G>A	wild type	Familial long QT syndrome	CO	"directly interacting, indirectly interacting, pathway membership, co-expression""	,"
dd055	KCNE1	c.253G>A	wild type	KCNQ1	c.935C>T	wild type	Familial long QT syndrome	N/A	"directly interacting, indirectly interacting, pathway membership, co-expression""	,"
dd056	KCNE1	c.253G>A	wild type	KCNQ1	c.569G>A	wild type	Familial long QT syndrome	CO	"directly interacting, indirectly interacting, pathway membership, co-expression""	,"
dd058	KCNE1	c.221C>T	wild type	KCNH2	c.2764C>T	wild type	Familial long QT syndrome	CO	"directly interacting, pathway membership, co-expression""	,,"
dd059	KCNE1	c.253G>A	wild type	KCNH2	c.1682C>T	wild type	Familial long QT syndrome	CO	"directly interacting, pathway membership, co-expression""	,,"
dd060	KCNE1	c.253G>A	c.253G>A	KCNH2	c.2582A>T	wild type	Familial long QT syndrome	CO	"directly interacting, pathway membership, co-expression""	,,"
dd061	KCNE1	c.253G>A	wild type	KCNH2	c.132C>A	wild type	Familial long QT syndrome	N/A	"directly interacting, pathway membership, co-expression""	,,"
dd062	KCNE1	c.253G>A	wild type	KCNH2	c.1933A>T	wild type	Familial long QT syndrome	CO	"directly interacting, pathway membership, co-expression""	,,"
dd063	KCNE1	c.253G>A	wild type	KCNH2	c.1825G>A	wild type	Familial long QT syndrome	N/A	"directly interacting, pathway membership, co-expression""	,,"
dd064	KCNE1	c.253G>A	wild type	KCNH2	c.934C>T	wild type	Familial long QT syndrome	CO	"directly interacting, pathway membership, co-expression""	,,"
dd065	KCNE1	c.95G>A	wild type	SCN5A	c.4931G>A	wild type	Familial long QT syndrome	N/A	"indirectly interacting, co-expression""	,,,"
dd066	KCNE1	c.253G>A	wild type	SCN5A	c.4868G>A	wild type	Familial long QT syndrome	CO	"indirectly interacting, co-expression""	,,,"
dd067	KCNQ1	c.562delT	wild type	KCNH2	c.2775dup	wild type	Familial long QT syndrome	N/A	"indirectly interacting, pathway membership, similar function, co-expression""	,"
dd068	KCNQ1	c.728G>C	wild type	KCNH2	c.2842C>T	wild type	Familial long QT syndrome	N/A	"indirectly interacting, pathway membership, similar function, co-expression""	,"
dd069	SCN5A	c.5455G>A	wild type	KCNH2	c.298C>G	wild type	Familial long QT syndrome	N/A	"indirectly interacting, similar function, co-expression""	,,"
dd070	CAV3	c.233C>T	wild type	KCNH2	c.2738C>T	wild type	Familial long QT syndrome	N/A	"directly interacting, indirectly interacting, co-expression""	,,"
dd144	KCNQ1	c.760G>A	wild type	SCN5A	c.1715C>A	wild type	Familial long QT syndrome	CO	"indirectly interacting, similar function, co-expression""	,,"
dd147	KCNQ1	c.1552C>T	wild type	SCN5A	c.4850_4852delTCT	wild type	Familial long QT syndrome	CO	"indirectly interacting, similar function, co-expression""	,,"
dd046	PITX2	c.698C>T	wild type	FOXC1	c.609delC	wild type	Axenfeld-Rieger syndrome	CO	"directly interacting, indirectly interacting""	,,,"
dd222	PRPH2	c.554T>C	wild type	ROM1	c.239dup	wild type	Retinitis pigmentosa	TD	"directly interacting, similar function, co-expression""	,,"
dd223	PRPH2	c.554T>C	wild type	ROM1	c.339dup	wild type	Retinitis pigmentosa	TD	"directly interacting, similar function, co-expression""	,,"
dd268	LRP5	c.[3361A>G]	wild type	EYS	c.[7723+1G>A]	wild type	Retinitis pigmentosa	TD	"similar function,,,,"
dd229	CDK5RAP2	c.[4187T>C]	wild type	CEP152	c.[3014_3015delAAinsT]	wild type	Seckel syndrome	TD	"directly interacting, indirectly interacting, pathway membership, co-expression""	,"
dd002	GJB3	c.497A>G	wild type	GJB2	c.235delC	wild type	Non-syndromic genetic deafness	TD	"indirectly interacting, pathway membership, similar function""	,,"
dd003	GJB3	c.580G>A	wild type	GJB2	c.235delC	wild type	Non-syndromic genetic deafness	TD	"indirectly interacting, pathway membership, similar function""	,,"
dd004	GJB3	c.580G>A	wild type	GJB2	c.299_300delAT	wild type	Non-syndromic genetic deafness	TD	"indirectly interacting, pathway membership, similar function""	,,"
dd005	FOXI1	c.773G>A	wild type	SLC26A4	c.85G>C	wild type	Non-syndromic genetic deafness	TD	"co-expression,,,,"
dd006	ATP2B2	c.1756G>A	wild type	CDH23	c.5663T>C	c.5663T>C	Non-syndromic genetic deafness	CO	"co-expression,,,,"
dd134	ATP2B2	c.1756G>A	wild type	MYO6	c.737A>G	wild type	Non-syndromic genetic deafness	CO	"indirectly interacting,,,,"
dd145	KCNJ10	c.1042C>T	wild type	SLC26A4	c.919-2A>G	wild type	Non-syndromic genetic deafness	TD	"none,,,,"
dd146	KCNJ10	c.581C>A	wild type	SLC26A4	c.1003T>C	wild type	Non-syndromic genetic deafness	TD	"none,,,,"
dd206	GJB2	c.35delG	wild type	TMPRSS3	c.208delC	wild type	Non-syndromic genetic deafness	TD	"none,,,,"
dd221	PDZD7	c.76_77del	wild type	GPR98	c.3022+2T>G	wild type	Non-syndromic genetic deafness	TD	"none,,,,"
dd242	MITF	c.[1021C>T]	wild type	GJB2	c.235delC	wild type	Non-syndromic genetic deafness	TD	"none,,,,"
dd267	GJB2	c.[487A>G]	wild type	TMPRSS3	c.[1276G>A]	wild type	Non-syndromic genetic deafness	N/A	"none,,,,"
dd007	PCDH15	c.5601_5603delAAC	wild type	CDH23	c.193delC	wild type	Usher syndrome	TD	"indirectly interacting, similar function, co-expression""	,,"
dd008	PCDH15	c.16delT	wild type	CDH23	c.9565C>T	wild type	Usher syndrome	TD	"indirectly interacting, similar function, co-expression""	,,"
dd009	PCDH15	c.5601_5603delAAC	wild type	CDH23	c.3625A>G	wild type	Usher syndrome	CO	"indirectly interacting, similar function, co-expression""	,,"
dd124	MYO7A	c.2311G>T	wild type	PCDH15	c.158-1G>A	wild type	Usher syndrome	TD	"directly interacting, indirectly interacting, co-expression""	,,"
dd153	MYO7A	c.6070C>T	c.1556G>A	CDH23	c.3178C>T	wild type	Usher syndrome	TD	"directly interacting, indirectly interacting, co-expression""	,,"
dd154	USH1C	c.238dupC	c.238dupC	CDH23	c.9127C>T	wild type	Usher syndrome	TD	"directly interacting, indirectly interacting, co-expression""	,,"
dd155	MYO7A	c.2283-1G>T	c.2283-1G>T	GPR98	c.14119G>T	wild type	Usher syndrome	TD	"directly interacting,,,,"
dd156	DFNB31	c.33C>G	wild type	GPR98	c.1563dupT	c.17668_17669delAT	Usher syndrome	TD	"none,,,,"
dd157	MYO7A	c.3659C>T	wild type	USH2A	c.3920C>G	c.1606T>C	Usher syndrome	TD	"directly interacting, indirectly interacting, co-expression""	,,"
dd161	PDZD7	c.166dupC	wild type	USH2A	c.4338_4339delCT	c.4338_4339delCT	Usher syndrome	CO	"none,,,,"
dd162	PDZD7	c.1750-2A>G	wild type	USH2A	c.4515_4518del	c.13316C>T	Usher syndrome	TD	"none,,,,"
dd163	PDZD7	c.2194_2203del	wild type	GPR98	c.17137delG	wild type	Usher syndrome	TD	"none,,,,"
dd037	FZD4	c.1250G>A	wild type	LRP5	c.1330C>T	wild type	Familial exudative vitreoretinopathy	CO	"directly interacting, indirectly interacting, pathway membership""	,,"
dd049	FZD4	c.1501_1502delCT	wild type	F5	c.1601G>A	wild type	Familial exudative vitreoretinopathy	CO	"none,,,,"
dd239	MAN1B1	c.[1000C>T]	c.[1000C>T]	SEC23A	c.[1200G>C]	c.[1200G>C]	Overgrowth syndrome	TD	"none,,,,"
dd266	WDR11	c.[1306A>G]	wild type	PROKR2	c.[253C>T]	wild type	Pituitary stalk interruption syndrome	TD	"none,,,,"
dd240	C2orf71	c.[1535C>A]	wild type	RP1L1	c.[326_327insT]	c.[7117C>T]	Syndromic retinitis pigmentosa	TD	"none,,,,"
dd032	FGG	c.571G>A	wild type	FGA	c.103C>T	wild type	Familial dysfibrinogenemia	CO	"directly interacting, indirectly interacting, pathway membership, similar function, co-expression""	"
dd027	MYOC	c.144G>T	wild type	CYP1B1	c.1103G>A	wild type	Congenital glaucoma	TD	"co-expression,,,,"
dd262	TEK	c.[309A>C]	wild type	CYP1B1	c.[343G>C]	wild type	Congenital glaucoma	TD	"co-expression,,,,"
dd263	TEK	c.[443T>C]	wild type	CYP1B1	c.1103G>A	wild type	Congenital glaucoma	TD	"co-expression,,,,"
dd264	TEK	c.[641A>C]	wild type	CYP1B1	c.[685G>A]	wild type	Congenital glaucoma	TD	"co-expression,,,,"
dd265	TEK	c.[2228G>C]	wild type	CYP1B1	c.[685G>A]	wild type	Congenital glaucoma	TD	"co-expression,,,,"
dd026	MYOC	c.1196G>T	wild type	CYP1B1	c.1103G>A	wild type	Juvenile glaucoma	CO	"co-expression,,,,"