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
ZWILCH_chr15_66500326_66555130	66517430	G G	GTGTGTGT others(7): Show GTGTGTGTGTATATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	410	0.0024	14	c.321 others(31): Show c.321-1448_321-1447insGTGTGTGTATATAT	ZWILCH	ENSG00000174442.12	transcript	ENST00000307897.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
ZWILCH_chr15_66500326_66555130	66517430	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01106.hp1 HG02004.hp1 others(4): Show HG01071.hp1 HG01106.hp1 HG02004.hp1 HG02572.hp2 NA18962.hp1 NA18982.hp2 NA19058.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0140 a0002c0002t0001g0149 a0002c0002t0001g0153 others(4): Show a0002c0002t0001g0140 a0002c0002t0001g0149 a0002c0002t0001g0153 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0339	7	410	0.0171	14	c.321 others(31): Show c.321-1448_321-1447insGTGTGTGTGTATAT	ZWILCH	ENSG00000174442.12	transcript	ENST00000307897.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
ZWILCH_chr15_66500326_66555130	66544719	G G	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0304 a0003c0003t0005g0304	1	410	0.0024	14	c.168 others(33): Show c.1688-1870_1688-1869insGTGTGTGTGTGTGT	ZWILCH	ENSG00000174442.12	transcript	ENST00000307897.10	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
ZWILCH_chr15_66500326_66555130	66544719	G G	GTTTTGTG others(7): Show GTTTTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02895.hp1 HG03471.hp2 others(1): Show HG02559.hp2 HG02895.hp1 HG03471.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0102 others(1): Show a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0107	4	410	0.0098	14	c.168 others(33): Show c.1688-1872_1688-1871insTTTTGTGTGTGTGT	ZWILCH	ENSG00000174442.12	transcript	ENST00000307897.10	protein_coding	17/18			chr15	TogoVar
ZWILCH_chr15_66500326_66555130	66544722	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02886.hp2 NA19043.hp1 HG02055.hp2 HG02886.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0108 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0108	3	410	0.0073	14	c.168 others(33): Show c.1688-1868_1688-1867insGTGTGTGTGTGTGT	ZWILCH	ENSG00000174442.12	transcript	ENST00000307897.10	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
ZWILCH_chr15_66500326_66555130	66544724	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00621.hp2 others(15): Show HG00099.hp2 HG00140.hp1 HG00621.hp2 HG01074.hp1 HG01081.hp2 HG02071.hp2 HG02683.hp2 HG02723.hp2 HG02970.hp1 HG03942.hp2 NA18973.hp2 NA18977.hp1 NA18986.hp1 NA19010.hp1 NA19063.hp1 NA19082.hp2 NA19090.hp1 NA19090.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0008 a0002c0002 others(2): Show a0001c0001 a0001c0008 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0001 a0001c0008t0001 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0008t0001 a0002c0002t0001 a0003c0003t0002 a0004c0004t0001	a0001c0001t0001g0007 a0001c0001t0001g0041 a0001c0001t0001g0044 others(14): Show a0001c0001t0001g0007 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0123 a0001c0008t0001g0080 a0002c0002t0001g0168 a0002c0002t0001g0375 a0003c0003t0002g0261 a0003c0003t0002g0298 a0003c0003t0002g0305 a0003c0003t0002g0338 a0004c0004t0001g0297	18	410	0.0439	14	c.168 others(33): Show c.1688-1845_1688-1832dupGTGTGTGTGTGTGT	ZWILCH	ENSG00000174442.12	transcript	ENST00000307897.10	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
ZWILCH_chr15_66500326_66555130	66544724	T T	TTTTGTGT others(7): Show TTTTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02004.hp1 NA18747.hp1 HG00642.hp2 HG02004.hp1 NA18747.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0150 a0002c0002t0001g0160 a0002c0002t0001g0166 a0002c0002t0001g0150 a0002c0002t0001g0160 a0002c0002t0001g0166	3	410	0.0073	14	c.168 others(33): Show c.1688-1866_1688-1865insTTGTGTGTGTGTGT	ZWILCH	ENSG00000174442.12	transcript	ENST00000307897.10	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
ZXDA_chrX_57900430_57915458	57904887	T T	TATATATA others(7): Show TATATATATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0006 a0007c0010t0006	a0007c0010t0006g0000 a0007c0010t0006g0000	2	320	0.0063	14	c.31 others(25): Show c.3133_*3134insTTATATATATATAT	ZXDA	ENSG00000198205.7	transcript	ENST00000358697.6	protein_coding		542		chrX	TogoVar
ZYG11A_chr1_52837760_52899998	52842419	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0172 a0002c0002t0001g0172	1	290	0.0035	14	c.-46 others(23): Show c.-465_-464insTGTGTGTGTGTGTG	ZYG11A	ENSG00000203995.11	transcript	ENST00000371528.2	protein_coding		340		chr1	TogoVar
ZYG11B_chr1_52721453_52832336	52738985	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01192.hp1 HG00735.hp2 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0155 a0001c0001t0011g0156 a0001c0001t0011g0155 a0001c0001t0011g0156	2	352	0.0057	14	c.30+ others(31): Show c.30+12315_30+12316insTTTTTTTTTTTTTT	ZYG11B	ENSG00000162378.13	transcript	ENST00000294353.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZYG11B_chr1_52721453_52832336	52746687	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0199 a0001c0001t0005g0199	1	352	0.0028	14	c.31- others(29): Show c.31-9757_31-9744dupTTTTTTTTTTTTTT	ZYG11B	ENSG00000162378.13	transcript	ENST00000294353.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZYG11B_chr1_52721453_52832336	52773599	C C	CTATATAT others(7): Show CTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02738.hp1 HG02922.hp2 others(3): Show HG02486.hp2 HG02738.hp1 HG02922.hp2 HG02970.hp1 NA18747.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 a0001c0001t0001 a0001c0001t0006 a0001c0001t0013	a0001c0001t0001g0131 a0001c0001t0006g0177 a0001c0001t0006g0181 others(3): Show a0001c0001t0001g0131 a0001c0001t0006g0177 a0001c0001t0006g0181 a0001c0001t0006g0184 a0001c0001t0013g0081 a0001c0001t0013g0097	6	352	0.0171	14	c.951 others(31): Show c.951+1841_951+1854dupATATATATATATAT	ZYG11B	ENSG00000162378.13	transcript	ENST00000294353.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZYG11B_chr1_52721453_52832336	52773627	A A	ATATATAT others(7): Show ATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA19082.hp1 NA18906.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0072 a0001c0001t0001 a0001c0001t0072	a0001c0001t0001g0066 a0001c0001t0072g0233 a0001c0001t0001g0066 a0001c0001t0072g0233	2	352	0.0057	14	c.951 others(31): Show c.951+1854_951+1855insATATATATATATTT	ZYG11B	ENSG00000162378.13	transcript	ENST00000294353.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZYG11B_chr1_52721453_52832336	52773627	A A	ATATATAT others(7): Show ATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02647.hp1 HG00621.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0015 a0001c0001t0001 a0001c0003t0015	a0001c0001t0001g0071 a0001c0003t0015g0210 a0001c0001t0001g0071 a0001c0003t0015g0210	2	352	0.0057	14	c.951 others(31): Show c.951+1854_951+1855insATATATATATTTTT	ZYG11B	ENSG00000162378.13	transcript	ENST00000294353.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZYG11B_chr1_52721453_52832336	52773627	A A	ATATATAT others(7): Show ATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 NA18972.hp1 HG01257.hp2 HG01258.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0016 a0001c0001t0078 a0001c0001t0013 a0001c0001t0016 a0001c0001t0078	a0001c0001t0013g0098 a0001c0001t0016g0040 a0001c0001t0078g0039 a0001c0001t0013g0098 a0001c0001t0016g0040 a0001c0001t0078g0039	3	352	0.0085	14	c.951 others(31): Show c.951+1854_951+1855insATATATATTTTTTT	ZYG11B	ENSG00000162378.13	transcript	ENST00000294353.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZYG11B_chr1_52721453_52832336	52776229	A A	AAAAAAAA others(7): Show AAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	352	0.0028	14	c.952 others(31): Show c.952-3623_952-3622insAAAAAATATATATA	ZYG11B	ENSG00000162378.13	transcript	ENST00000294353.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZYG11B_chr1_52721453_52832336	52783805	T T	TATACACA others(7): Show TATACACACACACAC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0162 a0001c0001t0008g0162	1	352	0.0028	14	c.109 others(33): Show c.1093-1071_1093-1070insTACACACACACACA	ZYG11B	ENSG00000162378.13	transcript	ENST00000294353.7	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZYG11B_chr1_52721453_52832336	52783805	T T	TATATACA others(7): Show TATATACACACACAC	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0172 a0001c0001t0057g0172	1	352	0.0028	14	c.109 others(33): Show c.1093-1071_1093-1070insTATACACACACACA	ZYG11B	ENSG00000162378.13	transcript	ENST00000294353.7	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZYG11B_chr1_52721453_52832336	52783914	A A	ATACATGT others(7): Show ATACATGTGTATATG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0202 a0001c0003t0012g0202	1	352	0.0028	14	c.109 others(31): Show c.1093-958_1093-957insGTGTATATGTACAT	ZYG11B	ENSG00000162378.13	transcript	ENST00000294353.7	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZYX_chr7_143376345_143396111	143385660	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01069.hp1 HG01928.hp2 others(6): Show HG00438.hp2 HG01069.hp1 HG01928.hp2 HG01952.hp2 HG01975.hp1 HG02129.hp1 HG02148.hp2 HG02300.hp2 NA19087.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0016 a0001c0001 a0002c0002 a0007c0016	a0001c0001t0001 a0002c0002t0001 a0007c0016t0001 a0001c0001t0001 a0002c0002t0001 a0007c0016t0001	a0001c0001t0001g0015 a0001c0001t0001g0060 a0001c0001t0001g0069 others(3): Show a0001c0001t0001g0015 a0001c0001t0001g0060 a0001c0001t0001g0069 a0001c0001t0001g0145 a0002c0002t0001g0129 a0007c0016t0001g0015	9	454	0.0198	14	c.102 others(33): Show c.1023+2351_1023+2364dupTTTTTTTTTTTTTT	ZYX	ENSG00000159840.16	transcript	ENST00000322764.10	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZZEF1_chr17_3999445_4148030	4024186	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0190 a0002c0002t0002g0190	1	296	0.0034	14	c.709 others(31): Show c.7092+719_7092+732dupAAAAAAAAAAAAAA	ZZEF1	ENSG00000074755.15	transcript	ENST00000381638.7	protein_coding	43/54			chr17	TogoVar
ZZEF1_chr17_3999445_4148030	4076137	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp2 HG03486.hp1 others(3): Show HG02055.hp2 HG02145.hp2 HG03486.hp1 HG03492.hp1 HG03516.hp2 NA18993.hp1	a0002 a0003 a0005 others(3): Show a0002 a0003 a0005 a0007 a0013 a0015	a0002c0021 a0003c0003 a0005c0009 others(3): Show a0002c0021 a0003c0003 a0005c0009 a0007c0006 a0013c0018 a0015c0015	a0002c0021t0003 a0003c0003t0004 a0005c0009t0003 others(3): Show a0002c0021t0003 a0003c0003t0004 a0005c0009t0003 a0007c0006t0005 a0013c0018t0018 a0015c0015t0012	a0002c0021t0003g0206 a0003c0003t0004g0271 a0005c0009t0003g0228 others(3): Show a0002c0021t0003g0206 a0003c0003t0004g0271 a0005c0009t0003g0228 a0007c0006t0005g0201 a0013c0018t0018g0016 a0015c0015t0012g0290	6	296	0.0203	14	c.323 others(31): Show c.3234+499_3234+500insAAAAAAAAAAAAAA	ZZEF1	ENSG00000074755.15	transcript	ENST00000381638.7	protein_coding	21/54			chr17	TogoVar
ZZEF1_chr17_3999445_4148030	4087783	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02630.hp1 HG02683.hp2 others(2): Show HG02135.hp1 HG02630.hp1 HG02683.hp2 NA18906.hp2 NA18941.hp1	a0002 a0004 a0006 a0002 a0004 a0006	a0002c0002 a0004c0064 a0006c0024 a0002c0002 a0004c0064 a0006c0024	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(2): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0004c0064t0005 a0006c0024t0003	a0002c0002t0001g0195 a0002c0002t0002g0179 a0002c0002t0003g0187 others(2): Show a0002c0002t0001g0195 a0002c0002t0002g0179 a0002c0002t0003g0187 a0004c0064t0005g0239 a0006c0024t0003g0241	5	296	0.0169	14	c.224 others(31): Show c.2242-263_2242-250dupGTGTGTGTGTGTGT	ZZEF1	ENSG00000074755.15	transcript	ENST00000381638.7	protein_coding	13/54			chr17	TogoVar
ZZEF1_chr17_3999445_4148030	4111661	A A	AAAAAAAA others(7): Show AAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA19043.hp2 HG02717.hp2 NA19043.hp2	a0002 a0003 a0002 a0003	a0002c0039 a0003c0003 a0002c0039 a0003c0003	a0002c0039t0003 a0003c0003t0004 a0002c0039t0003 a0003c0003t0004	a0002c0039t0003g0032 a0003c0003t0004g0284 a0002c0039t0003g0032 a0003c0003t0004g0284	2	296	0.0068	14	c.106 others(31): Show c.1066+947_1066+948insCTTTTTTTTTTTTT	ZZEF1	ENSG00000074755.15	transcript	ENST00000381638.7	protein_coding	5/54			chr17	TogoVar
ZZEF1_chr17_3999445_4148030	4123268	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	296	0.0034	14	c.499 others(29): Show c.499+625_499+638dupATATATATATATAT	ZZEF1	ENSG00000074755.15	transcript	ENST00000381638.7	protein_coding	2/54			chr17	TogoVar

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