Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
COMMD9_chr11_36267292_36294424	36270137	T T	TAGAGAGA others(37): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG02273.hp2 HG00438.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0002 a0001c0001t0005g0065 a0001c0001t0003g0002 a0001c0001t0005g0065	2	41	0.0488	44	c.44 others(55): Show c.4494_*4495insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding		2154		chr11	TogoVar
COPB2_chr3_139352406_139394647	139383516	A A	AGGGGGGG others(37): Show AGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	262	0.0038	44	c.4-8 others(53): Show c.4-82_4-81insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCC	COPB2	ENSG00000184432.11	transcript	ENST00000333188.10	protein_coding	1/21			chr3	TogoVar
COPE_chr19_18894514_18924387	18902825	G G	GAAAGAAA others(37): Show GAAAGAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03195.hp1 HG03453.hp2 others(2): Show HG02896.hp1 HG03195.hp1 HG03453.hp2 HG03471.hp1 NA18906.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0194 a0002c0003t0001g0196 a0002c0003t0001g0197 others(2): Show a0002c0003t0001g0194 a0002c0003t0001g0196 a0002c0003t0001g0197 a0002c0003t0001g0248 a0002c0003t0001g0249	5	150	0.0333	44	c.735 others(59): Show c.735+442_735+443insTTCTTTTCTTTTCTTTTCTTTTCTTTCTTT CTTTCTTTTTCTTT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
COPG1_chr3_129244606_129282773	129247224	G G	GTATATGT others(37): Show GTATATGTATATATATGTGTGTGTATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0024 a0002c0005t0003g0024	1	303	0.0033	44	c.-24 others(55): Show c.-2486_-2485insTATATGTATATATATGTGTGTGTATATATATATA TATATATATA	COPG1	ENSG00000181789.14	transcript	ENST00000314797.10	protein_coding		2381		chr3	TogoVar
COPG1_chr3_129244606_129282773	129247228	G G	GTATATAT others(37): Show GTATATATATGTGTGTGTGTATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02109.hp2 NA20129.hp2 HG02055.hp1 HG02109.hp2 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0011 a0001c0003t0002g0025 a0001c0003t0002g0011 a0001c0003t0002g0025	3	258	0.0116	44	c.-24 others(55): Show c.-2482_-2481insTATATATATGTGTGTGTGTATATATATATATATA TATATATATA	COPG1	ENSG00000181789.14	transcript	ENST00000314797.10	protein_coding		2377		chr3	TogoVar
COQ10B_chr2_197448552_197480310	197473466	G G	GTATATAT others(37): Show GTATATATACACGTATATATATGTATATACGTGTATATATACGTA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	388	0.0026	44	c.550 others(59): Show c.550-260_550-259insGTATATATACGTATATATATACACGTATAT ATATGTATATACGT	COQ10B	ENSG00000115520.9	transcript	ENST00000263960.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
COQ8B_chr19_40686530_40721886	40697851	T T	TATATAGA others(37): Show TATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0001 a0003c0010t0001	a0003c0010t0001g0044 a0003c0010t0001g0044	1	70	0.0143	44	c.114 others(63): Show c.1144-1798_1144-1797insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTATAT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697851	T T	TATATATA others(37): Show TATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0001 a0003c0010t0001	a0003c0010t0001g0053 a0003c0010t0001g0053	1	70	0.0143	44	c.114 others(63): Show c.1144-1798_1144-1797insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTATATAT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697851	T T	TATATATA others(37): Show TATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0344 a0001c0002t0004g0344	1	70	0.0143	44	c.114 others(63): Show c.1144-1798_1144-1797insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTATATATATAT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COX7A2L_chr2_42344338_42366217	42346366	G G	GTATCAGC others(37): Show GTATCAGCTGGATTTAATGAATTTCTGGAGCTTGCAATCAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	404	0.0025	44	c.48 others(55): Show c.4809_*4852dupTCTTCTGATTGCAAGCTCCAGAAATTCATTAAAT CCAGCTGATA	COX7A2L	ENSG00000115944.15	transcript	ENST00000234301.3	protein_coding		2971		chr2	TogoVar
CPA2_chr7_130261863_130294798	130267773	C C	CTCTCTCT others(37): Show CTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	51	0.0196	44	c.71+ others(57): Show c.71+824_71+825insCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCT	CPA2	ENSG00000158516.12	transcript	ENST00000222481.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPB2_chr13_46048186_46110033	46108157	T T	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0021 a0002c0002t0002g0021	1	43	0.0233	44	c.-31 others(55): Show c.-3149_-3148insTATATATATATATATATATATATATATATATATA TATATATATA	CPB2	ENSG00000080618.17	transcript	ENST00000181383.10	protein_coding		3125		chr13	TogoVar
CPE_chr4_165374008_165503547	165461186	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA19082.hp2 HG00673.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0116 a0001c0001t0001g0104 a0001c0001t0001g0116	2	150	0.0133	44	c.308 others(61): Show c.308-3203_308-3202insAAAAAAAAAAAAAAAAAAAAAAAAAAAA GAAAGAAAGAAAAAGA	CPE	ENSG00000109472.14	transcript	ENST00000402744.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPLX1_chr4_779957_831129	826454	G G	GGGGGGGC others(37): Show GGGGGGGCGGGGGCGGGGGGCGGGGGGTGGACCCGGGGCGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0308 a0001c0001t0003g0308	1	382	0.0026	44	c.-48 others(53): Show c.-489_-488insGCCCCCGCCCCGGGTCCACCCCCCGCCCCCCGCCCC CGCCCCCC	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding		326		chr4	TogoVar
CPLX2_chr5_175866578_175889021	175871410	G G	GGAGAGAG others(37): Show GGAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	1	299	0.0033	44	c.-38 others(53): Show c.-384_-383insGAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGA GAGAGAGA	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		167		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871428	A A	AGACAGAG others(37): Show AGACAGAGAGAGAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0054 a0001c0001t0008g0054	1	374	0.0027	44	c.-36 others(53): Show c.-366_-365insGACAGAGAGAGAGAGAGAGAGAGAGGAGAGAGAGAG AGAGAGAG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		149		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871464	A A	AGAGAGAG others(37): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAGAGAGAGAGAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0004 a0001c0001t0064g0004	1	332	0.0030	44	c.-33 others(53): Show c.-330_-329insGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAGAGAGA GAGAGAGG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		113		chr5	TogoVar
CPM_chr12_68846175_68938171	68847196	T T	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG02258.hp2 NA19062.hp2 HG01081.hp1 HG02258.hp2 NA19062.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0001c0004 a0002c0003	a0001c0004t0005 a0002c0003t0048 a0001c0004t0005 a0002c0003t0048	a0001c0004t0005g0156 a0001c0004t0005g0181 a0002c0003t0048g0024 a0001c0004t0005g0156 a0001c0004t0005g0181 a0002c0003t0048g0024	3	168	0.0179	44	c.92 others(55): Show c.9240_*9241insTATATATATATATATATATATATATATATATATA TATATATATA	CPM	ENSG00000135678.12	transcript	ENST00000551568.6	protein_coding		3978		chr12	TogoVar
CPNE3_chr8_86509435_86566498	86524848	T T	TTTTCTTT others(37): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02922.hp1 HG02922.hp2 others(3): Show HG02559.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03195.hp2 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0009 a0001c0002t0014 others(1): Show a0001c0002t0006 a0001c0002t0009 a0001c0002t0014 a0001c0002t0019	a0001c0002t0006g0268 a0001c0002t0006g0269 a0001c0002t0006g0293 others(3): Show a0001c0002t0006g0268 a0001c0002t0006g0269 a0001c0002t0006g0293 a0001c0002t0009g0295 a0001c0002t0014g0296 a0001c0002t0019g0294	6	139	0.0432	44	c.-10 others(61): Show c.-10-3665_-10-3664insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	CPNE3	ENSG00000085719.13	transcript	ENST00000517490.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPNE4_chr3_131528569_132040014	131792695	A A	ATACACGT others(37): Show ATACACGTGTGTATATATGTATATATATACACGTGTGTATATATG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	83	0.0120	44	c.181 others(63): Show c.181-69071_181-69070insCATATATACACACGTGTATATATATA CATATATACACACGTGTA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131792708	C C	CGTGTATA others(37): Show CGTGTATATATATACACGTGTGTATATATGTATATATATACACGT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0089 a0001c0003t0002g0089	1	76	0.0132	44	c.181 others(63): Show c.181-69084_181-69083insACGTGTATATATATACATATATACAC ACGTGTATATATATACAC	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE7_chr16_89570758_89602246	89598295	T T	TCCATCCA others(37): Show TCCATCCACCCATCCGCCCACCCATCCCCCCGCCCATCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02559.hp1 HG02723.hp2 others(12): Show HG02280.hp1 HG02559.hp1 HG02723.hp2 HG02818.hp2 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0023 a0001c0002 a0001c0007 a0001c0023	a0001c0002t0013 a0001c0007t0006 a0001c0023t0001 a0001c0002t0013 a0001c0007t0006 a0001c0023t0001	a0001c0002t0013g0189 a0001c0007t0006g0006 a0001c0007t0006g0068 others(11): Show a0001c0002t0013g0189 a0001c0007t0006g0006 a0001c0007t0006g0068 a0001c0007t0006g0075 a0001c0007t0006g0154 a0001c0007t0006g0155 a0001c0007t0006g0156 a0001c0007t0006g0157 a0001c0007t0006g0159 a0001c0007t0006g0162 a0001c0007t0006g0252 a0001c0007t0006g0274 a0001c0007t0006g0285 a0001c0023t0001g0223	15	346	0.0434	44	c.16 others(55): Show c.1674_*1675insCCATCCACCCATCCGCCCACCCATCCCCCCGCCC ATCCCCCCGC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		1050		chr16	TogoVar
CPO_chr2_206934518_206974474	206935784	C C	CCCATCCA others(37): Show CCCATCCATCCATCCATCCATCCATCCATCCATCCACCCATCCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG03654.hp1 HG02572.hp1 HG03654.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0301 a0002c0003t0001g0309 a0002c0003t0001g0301 a0002c0003t0001g0309	2	266	0.0075	44	c.-38 others(55): Show c.-3816_-3815insCCATCCATCCATCCATCCATCCATCCATCCATCC ACCCATCCAT	CPO	ENSG00000144410.5	transcript	ENST00000272852.4	protein_coding		3733		chr2	TogoVar
CPPED1_chr16_12654799_12808887	12766256	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0009 a0010c0012t0009	a0010c0012t0009g0061 a0010c0012t0009g0061	1	248	0.0040	44	c.289 others(63): Show c.289+14928_289+14929insCTCTCTCTCTCTCTCTATATATATAT ATATATATATATATATAT	CPPED1	ENSG00000103381.12	transcript	ENST00000381774.9	protein_coding	2/3			chr16	TogoVar
CPPED1_chr16_12654799_12808887	12766256	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02896.hp2 HG02895.hp1 HG02896.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0056 a0003c0003t0007 a0002c0002t0056 a0003c0003t0007	a0002c0002t0056g0089 a0003c0003t0007g0170 a0002c0002t0056g0089 a0003c0003t0007g0170	2	249	0.0080	44	c.289 others(63): Show c.289+14928_289+14929insCTCTCTCTCTCTATATATATATATAT ATATATATATATATATAT	CPPED1	ENSG00000103381.12	transcript	ENST00000381774.9	protein_coding	2/3			chr16	TogoVar
CPS1_chr2_210551599_210684107	210597823	C C	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0013 a0004c0004t0002g0014 a0004c0004t0002g0013 a0004c0004t0002g0014	2	337	0.0059	44	c.136 others(63): Show c.1360-1540_1360-1539insTATATATATATATATATATATATATA TATATATATATATATATA	CPS1	ENSG00000021826.18	transcript	ENST00000233072.10	protein_coding	13/37		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPSF2_chr14_92116969_92177145	92173317	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATACACACGTATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp1 NA18999.hp1 NA19011.hp2 others(1): Show NA18961.hp1 NA18999.hp1 NA19011.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0024 a0001c0001t0001 a0001c0001t0009 a0001c0001t0024	a0001c0001t0001g0005 a0001c0001t0001g0163 a0001c0001t0009g0144 others(1): Show a0001c0001t0001g0005 a0001c0001t0001g0163 a0001c0001t0009g0144 a0001c0001t0024g0005	4	385	0.0104	44	c.11 others(57): Show c.11573_*11574insTATATATATATATATATATATATATACACACG TATATATATATG	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1173		chr14	TogoVar
CPTP_chr1_1319802_1333896	1324788	C C	CGAGGGCG others(37): Show CGAGGGCGGGGCGAGGGCGGGGCGAGGGCGGGGCGAGGGCGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	121	0.0083	44	c.-39 others(53): Show c.-390_-389insGAGGGCGGGGCGAGGGCGGGGCGAGGGCGGGGCGAG GGCGGGGA	CPTP	ENSG00000224051.7	transcript	ENST00000343938.9	protein_coding		13		chr1	TogoVar
CPZ_chr4_8587765_8624752	8605634	T T	TATCCATT others(37): Show TATCCATTCATCCATCCATCCATCCATCCATCCATCCATCCACCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03225.hp1 HG03486.hp2 HG01109.hp2 HG03225.hp1 HG03486.hp2	a0001 a0019 a0023 a0001 a0019 a0023	a0001c0001 a0019c0039 a0023c0036 a0001c0001 a0019c0039 a0023c0036	a0001c0001t0001 a0019c0039t0001 a0023c0036t0001 a0001c0001t0001 a0019c0039t0001 a0023c0036t0001	a0001c0001t0001g0303 a0019c0039t0001g0235 a0023c0036t0001g0203 a0001c0001t0001g0303 a0019c0039t0001g0235 a0023c0036t0001g0203	3	339	0.0088	44	c.710 others(59): Show c.710-342_710-341insTCCATCCATCCATCCATCCATCCATCCACC CATCCATTCATCCA	CPZ	ENSG00000109625.19	transcript	ENST00000360986.9	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CR1L_chr1_207640133_207728703	207683010	T T	TTCTTTCT others(37): Show TTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTTTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0316 a0004c0004t0001g0316	1	229	0.0044	44	c.378 others(59): Show c.378-861_378-860insCTTTCTTTCTTTCTTTCTTTCTTTTTCTTT TTTTCTTTCTTTCT	CR1L	ENSG00000197721.17	transcript	ENST00000508064.7	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1_chr1_207491157_207646765	207515178	C C	CATATATA others(37): Show CATATATATACGTATATATACATATACATATATAGGTATATACAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01167.hp1 HG01169.hp1 others(5): Show HG00735.hp2 HG01167.hp1 HG01169.hp1 HG02055.hp2 HG02896.hp2 HG02922.hp1 HG03098.hp1 NA18994.hp2	a0002 a0004 a0012 others(1): Show a0002 a0004 a0012 a0025	a0002c0002 a0004c0015 a0012c0021 others(2): Show a0002c0002 a0004c0015 a0012c0021 a0012c0028 a0025c0040	a0002c0002t0001 a0004c0015t0002 a0012c0021t0005 others(2): Show a0002c0002t0001 a0004c0015t0002 a0012c0021t0005 a0012c0028t0005 a0025c0040t0005	a0002c0002t0001g0298 a0004c0015t0002g0189 a0004c0015t0002g0190 others(5): Show a0002c0002t0001g0298 a0004c0015t0002g0189 a0004c0015t0002g0190 a0004c0015t0002g0191 a0012c0021t0005g0068 a0012c0021t0005g0255 a0012c0028t0005g0067 a0025c0040t0005g0069	8	43	0.1860	44	c.487 others(61): Show c.487+3531_487+3532insTACGTATATATACATATACATATATAGG TATATACATATATATA	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	4/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
CRACR2A_chr12_3610328_3758109	3745825	T T	TAAAATAA others(37): Show TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG03017.hp1 HG01074.hp2 HG03017.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0100 a0002c0002t0001g0129 a0001c0001t0001g0100 a0002c0002t0001g0129	2	7	0.2857	44	c.-38 others(63): Show c.-387+7189_-387+7190insCTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTT	CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	1/19			chr12	TogoVar
CREB3L2_chr7_137869979_138007086	137922414	A A	ATATACGT others(37): Show ATATACGTATATATATATATATATATATATATATATATATATACG	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19054.hp2 NA19010.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0063 a0001c0001t0003 a0001c0001t0063	a0001c0001t0003g0156 a0001c0001t0063g0254 a0001c0001t0003g0156 a0001c0001t0063g0254	2	255	0.0078	44	c.319 others(61): Show c.319+5735_319+5736insCGTATATATATATATATATATATATATA TATATATATACGTATA	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	2/11			chr7	TogoVar
CREB3L3_chr19_4148631_4178054	4163351	A A	AGAAAGAA others(37): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	242	0.0041	44	c.577 others(61): Show c.577-1149_577-1148insAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAGGAAGGAA	CREB3L3	ENSG00000060566.14	transcript	ENST00000078445.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
CREB5_chr7_28407518_28830894	28486670	T T	TTAAATAT others(37): Show TTAAATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0061 a0001c0001t0048g0061	1	38	0.0263	44	c.4-1 others(57): Show c.4-1503_4-1502insAATATATATATATATATATATATATATATATA TATATATATATA	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28560873	C C	CGCGTGCG others(37): Show CGCGTGCGTGTGTGCGCGTGTGCGCGCGTGCGTGTGTGCGTGTGT	intron_variant intron_variant	MODIFIER	HG03490.hp1 NA19009.hp2 HG03490.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0034 a0001c0001t0001 a0001c0001t0034	a0001c0001t0001g0086 a0001c0001t0034g0111 a0001c0001t0001g0086 a0001c0001t0034g0111	2	177	0.0113	44	c.292 others(61): Show c.292-9483_292-9482insTGTGCGCGTGTGCGCGCGTGCGTGTGTG CGTGTGTGCGTGCGTG	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28561025	C C	CGTGCGTG others(37): Show CGTGCGTGCGTGTGTGCGTGCGTGTGTGTGCGTGCGTGTGCGTGT	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA18945.hp1 HG02129.hp2 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0014 a0001c0001t0007 a0001c0001t0014	a0001c0001t0007g0192 a0001c0001t0014g0067 a0001c0001t0007g0192 a0001c0001t0014g0067	2	129	0.0155	44	c.292 others(61): Show c.292-9337_292-9336insCGTGCGTGTGTGCGTGCGTGTGTGTGCG TGCGTGTGCGTGTGTG	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CRKL_chr22_20912407_20958747	20927192	A A	ATTTTTTT others(37): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0072 a0001c0001t0003g0072	1	52	0.0192	44	c.312 others(61): Show c.312-6569_312-6568insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTT	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr22	TogoVar
CROCC2_chr2_240901336_240998311	240980019	A A	AGTCTCTG others(37): Show AGTCTCTGGGGTAGCAGCCTCTGGAGCCCAGGCTCATCCCTGCTC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	347	0.0029	44	c.440 others(63): Show c.4402-2861_4402-2860insGTCTCTGGGGTAGCAGCCTCTGGAGC CCAGGCTCATCCCTGCTC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31			chr2	TogoVar
CRPPA_chr7_16082525_16426538	16342782	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAATATATATATATATATATATAGATAGATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0025 a0002c0002t0025	a0002c0002t0025g0213 a0002c0002t0025g0213	1	10	0.1000	44	c.684 others(63): Show c.684+33309_684+33310insATATATCTATCTATATATATATATAT ATATATTTTTTTTTTTTT	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	3/9			chr7	TogoVar
CRPPA_chr7_16082525_16426538	16342782	A A	AAAAAAAA others(37): Show AAAAAAAAAAAATATATATATATATATATATATATATAGATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02723.hp1 HG02895.hp1 others(1): Show HG02647.hp2 HG02723.hp1 HG02895.hp1 HG02897.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0039 a0002c0002t0008 a0001c0001t0003 a0001c0001t0039 a0002c0002t0008	a0001c0001t0003g0014 a0001c0001t0003g0067 a0001c0001t0039g0013 others(1): Show a0001c0001t0003g0014 a0001c0001t0003g0067 a0001c0001t0039g0013 a0002c0002t0008g0252	4	13	0.3077	44	c.684 others(63): Show c.684+33309_684+33310insATATATCTATATATATATATATATAT ATATATATTTTTTTTTTT	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	3/9			chr7	TogoVar
CRYBA4_chr22_26616963_26635669	26627334	C C	CCCCTCCC others(37): Show CCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	289	0.0035	44	c.301 others(59): Show c.301-928_301-927insCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCC	CRYBA4	ENSG00000196431.4	transcript	ENST00000354760.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRYBG1_chr6_106355717_106577017	106361953	T T	TTTTCTTT others(37): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02132.hp1 HG02132.hp2 others(10): Show HG00735.hp1 HG02132.hp1 HG02132.hp2 HG02523.hp1 HG02647.hp2 HG03688.hp2 NA18942.hp2 NA18945.hp1 NA18963.hp2 NA18969.hp2 NA18983.hp1 NA19012.hp1 NA19068.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0005 a0006 a0063	a0001c0001 a0003c0002 a0003c0038 others(4): Show a0001c0001 a0003c0002 a0003c0038 a0004c0004 a0005c0006 a0006c0005 a0063c0046	a0001c0001t0001 a0003c0002t0005 a0003c0038t0007 others(4): Show a0001c0001t0001 a0003c0002t0005 a0003c0038t0007 a0004c0004t0017 a0005c0006t0003 a0006c0005t0004 a0063c0046t0004	a0001c0001t0001g0134 a0001c0001t0001g0139 a0003c0002t0005g0141 others(10): Show a0001c0001t0001g0134 a0001c0001t0001g0139 a0003c0002t0005g0141 a0003c0002t0005g0142 a0003c0002t0005g0143 a0003c0002t0005g0144 a0003c0002t0005g0145 a0003c0038t0007g0135 a0004c0004t0017g0140 a0005c0006t0003g0136 a0005c0006t0003g0137 a0006c0005t0004g0138 a0063c0046t0004g0146	13	195	0.0667	44	c.173 others(59): Show c.173+875_173+876insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CSF1R_chr5_150048295_150091554	150084343	A A	AAAAGAAA others(37): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA20129.hp2 HG02083.hp1 NA20129.hp2	a0001 a0005 a0001 a0005	a0001c0004 a0005c0011 a0001c0004 a0005c0011	a0001c0004t0003 a0005c0011t0006 a0001c0004t0003 a0005c0011t0006	a0001c0004t0003g0187 a0005c0011t0006g0318 a0001c0004t0003g0187 a0005c0011t0006g0318	2	295	0.0068	44	c.49+ others(59): Show c.49+1992_49+2035dupCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTT	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSF1R_chr5_150048295_150091554	150084343	A A	AAAAGAAA others(37): Show AAAAGAAAGAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18985.hp2 HG00558.hp1 NA18985.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0003 a0001c0005 a0002c0003	a0001c0005t0004 a0002c0003t0020 a0001c0005t0004 a0002c0003t0020	a0001c0005t0004g0247 a0002c0003t0020g0316 a0001c0005t0004g0247 a0002c0003t0020g0316	2	295	0.0068	44	c.49+ others(59): Show c.49+2035_49+2036insCTTTCTTTCTTTCTTTCTTTCTTTCTCTCT TTCTTTCTTTCTTT	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSF1R_chr5_150048295_150091554	150084390	A A	AGAAAGAA others(37): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA19000.hp1 HG02040.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0261 a0001c0002t0001g0211 a0001c0001t0002g0261 a0001c0002t0001g0211	2	306	0.0065	44	c.49+ others(59): Show c.49+1988_49+1989insCTTCCTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTC	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSH1_chr17_63889918_63901574	63898087	C C	CTTCTTTC others(37): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp2 NA18995.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	382	0.0052	44	c.-15 others(55): Show c.-1577_-1576insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1514		chr17	TogoVar
CSMD1_chr8_2930361_4999914	2985376	G G	GTGGTGTG others(37): Show GTGGTGTGATACTGCTACACTGCTTCACCACGTGAGGGAGGAGAC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp2 HG01255.hp1 others(19): Show HG01123.hp1 HG01123.hp2 HG01255.hp1 HG01884.hp1 HG02055.hp2 HG02258.hp2 HG02280.hp1 HG02486.hp1 HG02559.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02922.hp2 HG03130.hp2 HG03516.hp2 NA18522.hp1 NA18906.hp1 NA19030.hp2 NA19043.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0004 others(9): Show a0001 a0002 a0004 a0006 a0017 a0020 a0023 a0028 a0030 a0035 a0038 a0039	a0001c0003 a0001c0004 a0001c0045 others(18): Show a0001c0003 a0001c0004 a0001c0045 a0001c0046 a0001c0050 a0001c0111 a0001c0115 a0002c0030 a0002c0031 a0002c0032 a0002c0053 a0004c0057 a0006c0008 a0017c0101 a0020c0112 a0023c0069 a0028c0044 a0030c0106 a0035c0023 a0038c0104 a0039c0010	a0001c0003t0008 a0001c0004t0020 a0001c0004t0063 others(19): Show a0001c0003t0008 a0001c0004t0020 a0001c0004t0063 a0001c0045t0014 a0001c0046t0073 a0001c0050t0052 a0001c0111t0045 a0001c0115t0042 a0002c0030t0018 a0002c0031t0015 a0002c0032t0053 a0002c0053t0022 a0004c0057t0080 a0006c0008t0082 a0017c0101t0008 a0020c0112t0081 a0023c0069t0043 a0028c0044t0071 a0030c0106t0014 a0035c0023t0001 a0038c0104t0069 a0039c0010t0068	a0001c0003t0008g0053 a0001c0004t0020g0086 a0001c0004t0063g0095 others(19): Show a0001c0003t0008g0053 a0001c0004t0020g0086 a0001c0004t0063g0095 a0001c0045t0014g0010 a0001c0046t0073g0091 a0001c0050t0052g0120 a0001c0111t0045g0063 a0001c0115t0042g0055 a0002c0030t0018g0122 a0002c0031t0015g0001 a0002c0032t0053g0061 a0002c0053t0022g0041 a0004c0057t0080g0075 a0006c0008t0082g0126 a0017c0101t0008g0023 a0020c0112t0081g0090 a0023c0069t0043g0100 a0028c0044t0071g0085 a0030c0106t0014g0042 a0035c0023t0001g0052 a0038c0104t0069g0058 a0039c0010t0068g0084	22	122	0.1803	44	c.837 others(63): Show c.8378-6620_8378-6577dupGTCTCCTCCCTCACGTGGTGAAGCAG TGTAGCAGTATCACACCA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	54/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3182841	G G	GGGGTGTG others(37): Show GGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0036 a0036	a0036c0095 a0036c0095	a0036c0095t0002 a0036c0095t0002	a0036c0095t0002g0124 a0036c0095t0002g0124	1	9	0.1111	44	c.562 others(63): Show c.5621-1628_5621-1627insACACACACACACACACACACACACAC ACACACACACACACACCC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	36/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3556412	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0004 a0004	a0004c0057 a0004c0057	a0004c0057t0080 a0004c0057t0080	a0004c0057t0080g0075 a0004c0057t0080g0075	1	115	0.0087	44	c.134 others(65): Show c.1344+18532_1344+18533insGTATGTATATATATATATATATAT ATATATATATATATATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar

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