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
COPG1_chr3_129244606_129282773	129247224	G G	GTATATGT others(35): Show GTATATGTATATATATGTGTGTGTATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0049 a0002c0005t0001g0049	1	326	0.0031	42	c.-24 others(53): Show c.-2486_-2485insTATATGTATATATATGTGTGTGTATATATATATA TATATATA	COPG1	ENSG00000181789.14	transcript	ENST00000314797.10	protein_coding		2381		chr3	TogoVar
COPG1_chr3_129244606_129282773	129247226	G G	GTATATAT others(35): Show GTATATATATGTGTGTGTGTATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0011 a0001c0003t0002g0011	1	326	0.0031	42	c.-24 others(53): Show c.-2484_-2483insTATATATATGTGTGTGTGTATATATATATATATA TATATATA	COPG1	ENSG00000181789.14	transcript	ENST00000314797.10	protein_coding		2379		chr3	TogoVar
COPG1_chr3_129244606_129282773	129247226	G G	GTATATGT others(35): Show GTATATGTATATATATGTGTGTGTATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0010 a0002c0005t0002g0010	2	326	0.0061	42	c.-24 others(53): Show c.-2484_-2483insTATATGTATATATATGTGTGTGTATATATATATA TATATATA	COPG1	ENSG00000181789.14	transcript	ENST00000314797.10	protein_coding		2379		chr3	TogoVar
COPG1_chr3_129244606_129282773	129247228	G G	GTATATAT others(35): Show GTATATATATGTGTGTGTATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0046 a0002c0005t0002g0046	1	326	0.0031	42	c.-24 others(53): Show c.-2482_-2481insTATATATATGTGTGTGTATATATATATATATATA TATATATA	COPG1	ENSG00000181789.14	transcript	ENST00000314797.10	protein_coding		2377		chr3	TogoVar
COPG1_chr3_129244606_129282773	129247228	G G	GTATATAT others(35): Show GTATATATATGTGTGTGTGTATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02622.hp2 HG02717.hp1 others(1): Show HG02280.hp1 HG02622.hp2 HG02717.hp1 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0011 a0001c0003t0002g0053 a0001c0003t0002g0054 others(1): Show a0001c0003t0002g0011 a0001c0003t0002g0053 a0001c0003t0002g0054 a0001c0003t0002g0055	4	326	0.0123	42	c.-24 others(53): Show c.-2482_-2481insTATATATATGTGTGTGTGTATATATATATATATA TATATATA	COPG1	ENSG00000181789.14	transcript	ENST00000314797.10	protein_coding		2377		chr3	TogoVar
COQ8B_chr19_40686530_40721886	40697851	T T	TAGAGAGA others(35): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0272 a0001c0002t0001g0272	1	410	0.0024	42	c.114 others(61): Show c.1144-1798_1144-1797insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697851	T T	TATATATA others(35): Show TATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0269 a0001c0002t0001g0269	1	410	0.0024	42	c.114 others(61): Show c.1144-1798_1144-1797insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTATATATATAT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
CPA2_chr7_130261863_130294798	130267773	C C	CTCTCTCT others(35): Show CTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	400	0.0025	42	c.71+ others(55): Show c.71+824_71+825insCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT	CPA2	ENSG00000158516.12	transcript	ENST00000222481.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPAMD8_chr19_16887951_17031810	16946436	A A	AATGCATG others(35): Show AATGCATGTCTACACATGTGGGCATGTGTGTGGATCTGTGTGT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0103 a0103	a0103c0110 a0103c0110	a0103c0110t0001 a0103c0110t0001	a0103c0110t0001g0055 a0103c0110t0001g0055	1	278	0.0036	42	c.266 others(59): Show c.2662+596_2662+637dupACACACAGATCCACACACATGCCCACAT GTGTAGACATGCAT	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	21/41			chr19	TogoVar
CPED1_chr7_120983711_121302442	121047647	T T	TTCTTCCT others(35): Show TTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0006 a0002c0002t0005g0006	1	140	0.0071	42	c.540 others(57): Show c.540+659_540+660insCTCTTCCTCTTCCTCTTCCTCTTCCTCTTC CTCTTCCTCTTC	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPE_chr4_165374008_165503547	165461186	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02055.hp2 HG02698.hp1 others(3): Show HG00099.hp2 HG02055.hp2 HG02698.hp1 HG03831.hp2 HG04228.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0044 a0001c0001t0001g0101 a0001c0001t0001g0106 others(3): Show a0001c0001t0001g0044 a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0198 a0001c0001t0002g0155	6	332	0.0181	42	c.308 others(59): Show c.308-3203_308-3202insAAAAAAAAAAAAAAAAAAAAAAAAAAGA AAGAAAGAAAAAGA	CPE	ENSG00000109472.14	transcript	ENST00000402744.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPE_chr4_165374008_165503547	165461186	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAAG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0142 a0001c0001t0002g0142	1	332	0.0030	42	c.308 others(59): Show c.308-3203_308-3202insAAAAAAAAAAAAAAAAAAAAAAGAAAGA AAGAAAGAAAAAGA	CPE	ENSG00000109472.14	transcript	ENST00000402744.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPLX2_chr5_175866578_175889021	175871428	A A	AGACAGAG others(35): Show AGACAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	1	378	0.0027	42	c.-36 others(51): Show c.-366_-365insGACAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		149		chr5	TogoVar
CPM_chr12_68846175_68938171	68847196	T T	TCATATAT others(35): Show TCATATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0021 a0002c0005t0021	a0002c0005t0021g0331 a0002c0005t0021g0331	1	340	0.0029	42	c.92 others(53): Show c.9240_*9241insTATATATATATATATATATATATATATATATATA TATATATG	CPM	ENSG00000135678.12	transcript	ENST00000551568.6	protein_coding		3978		chr12	TogoVar
CPM_chr12_68846175_68938171	68847196	T T	TTATATAT others(35): Show TTATATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01167.hp1 HG02451.hp2 others(1): Show HG00642.hp2 HG01167.hp1 HG02451.hp2 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0006 others(1): Show a0001c0001 a0001c0004 a0001c0006 a0002c0010	a0001c0001t0026 a0001c0004t0005 a0001c0006t0008 others(1): Show a0001c0001t0026 a0001c0004t0005 a0001c0006t0008 a0002c0010t0008	a0001c0001t0026g0231 a0001c0004t0005g0145 a0001c0006t0008g0245 others(1): Show a0001c0001t0026g0231 a0001c0004t0005g0145 a0001c0006t0008g0245 a0002c0010t0008g0025	4	340	0.0118	42	c.92 others(53): Show c.9240_*9241insTATATATATATATATATATATATATATATATATA TATATATA	CPM	ENSG00000135678.12	transcript	ENST00000551568.6	protein_coding		3978		chr12	TogoVar
CPNE2_chr16_57087583_57153369	57127785	G G	GGTTCCTG others(35): Show GGTTCCTGGGCCTGGCGCCTAGTTCCCTAATGGTCTCGCTTCT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02809.hp2 HG02559.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0037 a0001c0001t0005g0038 a0001c0001t0001g0037 a0001c0001t0005g0038	2	362	0.0055	42	c.106 others(57): Show c.1062-63_1062-62insTTCCTGGGCCTGGCGCCTAGTTCCCTAATG GTCTCGCTTCTG	CPNE2	ENSG00000140848.17	transcript	ENST00000290776.13	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587920	A A	ACCCACAG others(35): Show ACCCACAGAAACACGGCCCCCGTGTCAGCCACAGATACACGGC	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	348	0.0029	42	c.928 others(57): Show c.928-752_928-751insACAGAAACACGGCCCCCGTGTCAGCCACAG ATACACGGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588128	A A	ACCCACAG others(35): Show ACCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	348	0.0029	42	c.928 others(57): Show c.928-544_928-543insACAGATACACGGCCCCCCGTGTCACCCACA GATACACGGCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPO_chr2_206934518_206974474	206943667	A A	AGATAGAT others(35): Show AGATAGATGATAGATAGATAGATAGATAGATAGATAGATGATG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02523.hp1 NA18943.hp1 HG02135.hp2 HG02523.hp1 NA18943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087	3	422	0.0071	42	c.68+ others(57): Show c.68+4038_68+4039insGATGGATAGATGATAGATAGATAGATAGAT AGATAGATAGAT	CPO	ENSG00000144410.5	transcript	ENST00000272852.4	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPO_chr2_206934518_206974474	206943678	A A	AGATAGAT others(35): Show AGATAGATAGATAGATAGATAGATAGATAGATGATGGATAGAT	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA19091.hp2 HG04184.hp1 NA19091.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0003t0001 a0002c0002t0001 a0002c0003t0001	a0002c0002t0001g0080 a0002c0003t0001g0079 a0002c0002t0001g0080 a0002c0003t0001g0079	2	422	0.0047	42	c.68+ others(57): Show c.68+4042_68+4043insGATGGATAGATGATAGATAGATAGATAGAT AGATAGATAGAT	CPO	ENSG00000144410.5	transcript	ENST00000272852.4	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPO_chr2_206934518_206974474	206943736	A A	AGATAGAT others(35): Show AGATAGATAGATAGATAGATAGATAGATAGATGATGGATAGAT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0065 a0002c0002t0001g0065	1	422	0.0024	42	c.68+ others(57): Show c.68+4100_68+4101insGATGGATAGATGATAGATAGATAGATAGAT AGATAGATAGAT	CPO	ENSG00000144410.5	transcript	ENST00000272852.4	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPO_chr2_206934518_206974474	206943740	A A	AGATAGAT others(35): Show AGATAGATAGATAGATAGATAGATAGATAGATGATGGATAGAT	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA18983.hp2 HG03710.hp2 NA18983.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0069 a0002c0002t0001g0169 a0002c0002t0001g0069 a0002c0002t0001g0169	2	422	0.0047	42	c.68+ others(57): Show c.68+4104_68+4105insGATGGATAGATGATAGATAGATAGATAGAT AGATAGATAGAT	CPO	ENSG00000144410.5	transcript	ENST00000272852.4	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPPED1_chr16_12654799_12808887	12766256	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0083 a0002c0002t0015g0083	1	290	0.0035	42	c.289 others(61): Show c.289+14928_289+14929insCTCTCTCTCTCTATATATATATATAT ATATATATATATATAT	CPPED1	ENSG00000103381.12	transcript	ENST00000381774.9	protein_coding	2/3			chr16	TogoVar
CPPED1_chr16_12654799_12808887	12766256	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0169 a0003c0003t0007g0169	1	290	0.0035	42	c.289 others(61): Show c.289+14928_289+14929insCTCTCTCTCTATATATATATATATAT ATATATATATATATAT	CPPED1	ENSG00000103381.12	transcript	ENST00000381774.9	protein_coding	2/3			chr16	TogoVar
CPQ_chr8_96640242_97148501	96926576	C C	CTCTTCTT others(35): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	126	0.0079	42	c.850 others(61): Show c.850-39352_850-39311dupTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCT	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPS1_chr2_210551599_210684107	210597829	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0006 a0002c0013t0006	a0002c0013t0006g0070 a0002c0013t0006g0070	1	340	0.0029	42	c.136 others(61): Show c.1360-1540_1360-1539insTATATATATATATATATATATATATA TATATATATATACATA	CPS1	ENSG00000021826.18	transcript	ENST00000233072.10	protein_coding	13/37		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPSF2_chr14_92116969_92177145	92173382	C C	CGTATATA others(35): Show CGTATATATATATATATGTATATATATACGTATATATATATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0188 a0001c0001t0013g0188	1	388	0.0026	42	c.11 others(55): Show c.11638_*11639insGTATATATATATATATGTATATATATACGTAT ATATATATGT	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1238		chr14	TogoVar
CPSF2_chr14_92116969_92177145	92173391	A A	ATATGTGT others(35): Show ATATGTGTATATATATATATATACATATGTATATATATATGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp2 NA19062.hp1 NA18948.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0019 a0001c0001t0012g0019	2	388	0.0052	42	c.11 others(55): Show c.11647_*11648insTATGTGTATATATATATATATACATATGTATA TATATATGTG	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1247		chr14	TogoVar
CPZ_chr4_8587765_8624752	8609223	C C	CTCCCTCA others(35): Show CTCCCTCACTCACTTACTCATTGACTTACTCACTCATTCATTG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02145.hp2 HG02970.hp1 others(3): Show HG00741.hp2 HG02145.hp2 HG02970.hp1 HG03225.hp2 HG03516.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0013 a0002c0067 a0001c0013 a0002c0067	a0001c0013t0002 a0002c0067t0001 a0001c0013t0002 a0002c0067t0001	a0001c0013t0002g0021 a0001c0013t0002g0203 a0001c0013t0002g0204 others(1): Show a0001c0013t0002g0021 a0001c0013t0002g0203 a0001c0013t0002g0204 a0002c0067t0001g0240	6	442	0.0136	42	c.122 others(61): Show c.1227+1800_1227+1801insCCTCACTCACTTACTCATTGACTTAC TCACTCATTCATTGTC	CPZ	ENSG00000109625.19	transcript	ENST00000360986.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CRACDL_chr2_98788846_98941225	98795040	A A	AATATATA others(35): Show AATATATAAAAATTTATATATATATATATATATAAAAATTTAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0193 a0005c0005t0001g0193	1	316	0.0032	42	c.275 others(59): Show c.2750-370_2750-369insATAAATTTTTATATATATATATATATAT AAATTTTTATATAT	CRACDL	ENSG00000196872.12	transcript	ENST00000397899.7	protein_coding	9/9			chr2	TogoVar
CREB5_chr7_28407518_28830894	28486670	T T	TTATATAT others(35): Show TTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02280.hp1 HG02155.hp2 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0053 a0001c0001t0004 a0001c0001t0053	a0001c0001t0004g0051 a0001c0001t0053g0030 a0001c0001t0004g0051 a0001c0001t0053g0030	2	198	0.0101	42	c.4-1 others(55): Show c.4-1482_4-1481insATATATATATATATATATATATATATATATAT ATATATATAT	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28560857	T T	TGTGTGCG others(35): Show TGTGTGCGTGCGTGTGTGTGCGTGTGTGTGCGCGCGTGCGTGC	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	198	0.0051	42	c.292 others(59): Show c.292-9507_292-9506insTGTGCGTGCGTGTGTGTGCGTGTGTGTG CGCGCGTGCGTGCG	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28560959	T T	TGTGTGCG others(35): Show TGTGTGCGCGCGTGCGTGCGCGTGTGTGTGCGTGCGTGCGTGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp1 HG01167.hp1 others(8): Show HG00099.hp1 HG00735.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG02738.hp1 HG03139.hp1 HG03942.hp1 NA18945.hp2 NA18983.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0014 a0001c0001t0018 a0001c0002t0051	a0001c0001t0001g0074 a0001c0001t0002g0038 a0001c0001t0002g0039 others(8): Show a0001c0001t0001g0074 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0003g0010 a0001c0001t0003g0130 a0001c0001t0006g0052 a0001c0001t0006g0055 a0001c0001t0006g0105 a0001c0001t0014g0049 a0001c0001t0018g0108 a0001c0002t0051g0047	11	198	0.0556	42	c.292 others(59): Show c.292-9405_292-9404insTGTGCGCGCGTGCGTGCGCGTGTGTGTG CGTGCGTGCGTGCG	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28561001	T T	TGCGCGTG others(35): Show TGCGCGTGTGTGCGCGTGCGTGTGTGCGTGCGTGCGTGTGTGC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0101 a0001c0001t0004g0101	1	198	0.0051	42	c.292 others(59): Show c.292-9363_292-9362insCGCGTGTGTGCGCGTGCGTGTGTGCGTG CGTGCGTGTGTGCG	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28658963	A A	ATATATAT others(35): Show ATATATATATATATATGTATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0153 a0001c0001t0006g0153	1	198	0.0051	42	c.465 others(61): Show c.465-59775_465-59774insGTATATATATATATATATATATATAT GTATATATATATATAT	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CRKL_chr22_20912407_20958747	20916628	A A	AAAAGAAA others(35): Show AAAAGAAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0061 a0001c0001t0007g0061	1	370	0.0027	42	c.-13 others(53): Show c.-1307_-1306insAAAGAAAAGAAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAG	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		778		chr22	TogoVar
CRKL_chr22_20912407_20958747	20916635	A A	AAAAGAAA others(35): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0065 a0001c0001t0007g0065	1	370	0.0027	42	c.-13 others(53): Show c.-1300_-1299insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAAAG	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		771		chr22	TogoVar
CRMP1_chr4_5815764_5898086	5862301	A A	ACTAACCA others(35): Show ACTAACCAATCCCTTAGCCCCAGTATGTCCACCGCCGCTGCTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0194 a0001c0002t0002g0194	1	314	0.0032	42	c.471 others(59): Show c.471-1092_471-1091insAAGCAGCGGCGGTGGACATACTGGGGCT AAGGGATTGGTTAG	CRMP1	ENSG00000072832.15	transcript	ENST00000324989.12	protein_coding	2/13			chr4	TogoVar
CRMP1_chr4_5815764_5898086	5868290	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATCTATATATAG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0178 a0001c0002t0001g0178	1	314	0.0032	42	c.382 others(59): Show c.382-1535_382-1534insCTATATATAGATATATATATATATATAT ATATATATATATAT	CRMP1	ENSG00000072832.15	transcript	ENST00000324989.12	protein_coding	1/13			chr4	TogoVar
CROCC2_chr2_240901336_240998311	240919146	A A	AGTCCTGG others(35): Show AGTCCTGGGCCCGGGGCTGGGCAAGGTGATGGCGTGGGGGACG	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA19085.hp1 NA18945.hp1 NA19085.hp1	a0007 a0010 a0007 a0010	a0007c0007 a0010c0010 a0007c0007 a0010c0010	a0007c0007t0001 a0010c0010t0003 a0007c0007t0001 a0010c0010t0003	a0007c0007t0001g0212 a0010c0010t0003g0211 a0007c0007t0001g0212 a0010c0010t0003g0211	2	350	0.0057	42	c.229 others(57): Show c.229+280_229+281insCGGGGCTGGGCAAGGTGATGGCGTGGGGGA CGGTCCTGGGCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	2/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CRPPA_chr7_16082525_16426538	16342782	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAATATATATATATATATATAGATAGATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0039 a0001c0001t0014g0039	1	290	0.0035	42	c.684 others(61): Show c.684+33309_684+33310insATATATCTATCTATATATATATATAT ATATTTTTTTTTTTTT	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	3/9			chr7	TogoVar
CRYBG1_chr6_106355717_106577017	106361971	T T	TTCTTTCT others(35): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp2 HG01978.hp2 others(2): Show HG00280.hp1 HG00597.hp2 HG01978.hp2 HG02056.hp2 NA18973.hp2	a0001 a0005 a0017 others(2): Show a0001 a0005 a0017 a0026 a0061	a0001c0001 a0005c0008 a0017c0025 others(2): Show a0001c0001 a0005c0008 a0017c0025 a0026c0065 a0061c0070	a0001c0001t0001 a0005c0008t0003 a0017c0025t0002 others(2): Show a0001c0001t0001 a0005c0008t0003 a0017c0025t0002 a0026c0065t0011 a0061c0070t0004	a0001c0001t0001g0140 a0005c0008t0003g0138 a0017c0025t0002g0137 others(2): Show a0001c0001t0001g0140 a0005c0008t0003g0138 a0017c0025t0002g0137 a0026c0065t0011g0141 a0061c0070t0004g0139	5	272	0.0184	42	c.173 others(57): Show c.173+891_173+892insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYBG1_chr6_106355717_106577017	106377621	T T	TTATATAT others(35): Show TTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0055 a0055	a0055c0031 a0055c0031	a0055c0031t0008 a0055c0031t0008	a0055c0031t0008g0249 a0055c0031t0008g0249	1	272	0.0037	42	c.173 others(61): Show c.173+16567_173+16568insATATATATATATATATATATATATAT ATATATATATATATAT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CSE1L_chr20_49041312_49101949	49065313	A A	ATTTTTTT others(35): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	386	0.0026	42	c.229 others(57): Show c.229-852_229-851insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	CSE1L	ENSG00000124207.17	transcript	ENST00000262982.3	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr20	TogoVar
CSGALNACT1_chr8_19399161_19762277	19577401	C C	CAAAAAAA others(35): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0023 a0001c0017t0023	a0001c0017t0023g0011 a0001c0017t0023g0011	1	238	0.0042	42	c.-29 others(63): Show c.-297+24369_-297+24370insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19586816	T T	TTTTTTTT others(35): Show TTTTTTTTTTTTTTTCTTATGTTTTTTATGTAGTTGATAGAGA	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0003 a0002c0008t0003	a0002c0008t0003g0155 a0002c0008t0003g0155	1	238	0.0042	42	c.-29 others(63): Show c.-297+14954_-297+14955insTCTCTATCAACTACATAAAAAACA TAAGAAAAAAAAAAAAAA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSH1_chr17_63889918_63901574	63898100	T T	TTCTTTCT others(35): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	42	c.-15 others(53): Show c.-1590_-1589insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1527		chr17	TogoVar
CSH1_chr17_63889918_63901574	63898152	C C	CTTTCTTT others(35): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 NA18942.hp1 HG00621.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0001 a0001c0001t0001g0021	2	428	0.0047	42	c.-16 others(53): Show c.-1642_-1641insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1579		chr17	TogoVar
CSH1_chr17_63889918_63901574	63898156	C C	CTTTCTTT others(35): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp1 NA18989.hp1 NA19060.hp2 HG02148.hp1 NA18989.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0001 a0001c0001t0001g0011	3	428	0.0070	42	c.-16 others(53): Show c.-1646_-1645insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1583		chr17	TogoVar
CSH1_chr17_63889918_63901574	63898160	C C	CTTTCTTT others(35): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp1 NA18956.hp2 NA19012.hp1 others(1): Show NA18940.hp1 NA18956.hp2 NA19012.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	428	0.0094	42	c.-16 others(53): Show c.-1650_-1649insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1587		chr17	TogoVar

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