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
ZSWIM7_chr17_15971560_16004704	15976098	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	185	0.0054	22	c.19 others(33): Show c.1948_*1949insATTTTTTTTTTTTTTTTTTTTT	ZSWIM7	ENSG00000214941.8	transcript	ENST00000399277.6	protein_coding		461		chr17	TogoVar
ZSWIM7_chr17_15971560_16004704	15976098	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	185	0.0054	22	c.19 others(33): Show c.1948_*1949insATATATTTTTTTTTTTTTTTTT	ZSWIM7	ENSG00000214941.8	transcript	ENST00000399277.6	protein_coding		461		chr17	TogoVar
ZSWIM9_chr19_48165680_48202620	48192498	T T	TATATATA others(15): Show TATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0096 a0001c0004t0001g0096	1	217	0.0046	22	c.589 others(39): Show c.589-2154_589-2153insTATATATATATATATACACACA	ZSWIM9	ENSG00000185453.13	transcript	ENST00000614654.2	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZSWIM9_chr19_48165680_48202620	48192498	T T	TATATATA others(15): Show TATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18998.hp1 NA20300.hp1 NA18943.hp1 NA18998.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0002 a0001c0002t0001 a0001c0004t0002	a0001c0002t0001g0045 a0001c0002t0001g0064 a0001c0004t0002g0243 a0001c0002t0001g0045 a0001c0002t0001g0064 a0001c0004t0002g0243	3	219	0.0137	22	c.589 others(39): Show c.589-2154_589-2153insTATATATATATATATATACACA	ZSWIM9	ENSG00000185453.13	transcript	ENST00000614654.2	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZSWIM9_chr19_48165680_48202620	48192498	T T	TATATATA others(15): Show TATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0213 a0001c0002t0001g0213	1	217	0.0046	22	c.589 others(39): Show c.589-2154_589-2153insTATATATATATATATATATACA	ZSWIM9	ENSG00000185453.13	transcript	ENST00000614654.2	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZWILCH_chr15_66500326_66555130	66517430	G G	GTGTGTGT others(15): Show GTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03139.hp2 HG03209.hp2 others(7): Show HG02258.hp1 HG03139.hp2 HG03209.hp2 HG03516.hp2 NA18993.hp1 NA19000.hp2 NA19057.hp1 NA19072.hp1 NA19077.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0073 a0001c0001t0001g0074 others(7): Show a0001c0001t0001g0046 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0085 a0001c0001t0001g0110 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0133	10	57	0.1754	22	c.321 others(39): Show c.321-1448_321-1447insGTGTGTATATATATATATATAT	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(15): Show GTGTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02895.hp2 HG02897.hp2 others(3): Show HG02735.hp1 HG02895.hp2 HG02897.hp2 HG03579.hp1 HG03669.hp2 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0187 others(3): Show a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0002c0002t0001g0359 a0002c0002t0001g0364	6	53	0.1132	22	c.321 others(39): Show c.321-1448_321-1447insGTGTGTGTATATATATATATAT	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(15): Show GTGTGTGTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA19080.hp2 NA18949.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0322 a0001c0001t0001g0177 a0001c0001t0001g0322	2	49	0.0408	22	c.321 others(39): Show c.321-1448_321-1447insGTGTGTGTGTGTATATATATAT	ZWILCH	ENSG00000174442.12	transcript	ENST00000307897.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
ZWILCH_chr15_66500326_66555130	66517455	T T	TATATATA others(15): Show TATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18978.hp2 NA18982.hp1 NA18956.hp1 NA18978.hp2 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0245 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0245	3	304	0.0099	22	c.321 others(39): Show c.321-1423_321-1422insTATATATATATAGAGAGAGAGA	ZWILCH	ENSG00000174442.12	transcript	ENST00000307897.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
ZWILCH_chr15_66500326_66555130	66544724	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04199.hp2 HG04184.hp2 HG04199.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0005 a0003c0003t0002 a0003c0003t0005	a0003c0003t0002g0298 a0003c0003t0005g0300 a0003c0003t0002g0298 a0003c0003t0005g0300	2	52	0.0385	22	c.168 others(41): Show c.1688-1853_1688-1832dupGTGTGTGTGTGTGTGTGTGTGT	ZWILCH	ENSG00000174442.12	transcript	ENST00000307897.10	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
ZWILCH_chr15_66500326_66555130	66544724	T T	TTTTTTTT others(15): Show TTTTTTTTTTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0328 a0001c0001t0001g0328	1	51	0.0196	22	c.168 others(41): Show c.1688-1866_1688-1865insTTTTTTTTGTGTGTGTGTGTGT	ZWILCH	ENSG00000174442.12	transcript	ENST00000307897.10	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
ZWILCH_chr15_66500326_66555130	66544724	T T	TTTTTTTT others(15): Show TTTTTTTTTTTTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00733.hp2 HG01257.hp2 others(12): Show HG00609.hp2 HG00733.hp2 HG01257.hp2 HG01346.hp1 HG01952.hp1 HG01993.hp1 NA18947.hp2 NA18949.hp2 NA18952.hp2 NA18953.hp1 NA18955.hp2 NA18960.hp1 NA19068.hp1 NA19085.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 others(9): Show a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0330 a0001c0001t0001g0333 a0001c0001t0001g0334	15	65	0.2308	22	c.168 others(41): Show c.1688-1866_1688-1865insTTTTTTTTTTGTGTGTGTGTGT	ZWILCH	ENSG00000174442.12	transcript	ENST00000307897.10	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
ZWILCH_chr15_66500326_66555130	66544724	T T	TTTTTTTT others(15): Show TTTTTTTTTTTTTTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01943.hp1 NA18971.hp2 NA18975.hp1 others(2): Show HG01943.hp1 NA18971.hp2 NA18975.hp1 NA19058.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0315 a0001c0001t0001g0316 others(2): Show a0001c0001t0001g0311 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0331	5	55	0.0909	22	c.168 others(41): Show c.1688-1866_1688-1865insTTTTTTTTTTTTGTGTGTGTGT	ZWILCH	ENSG00000174442.12	transcript	ENST00000307897.10	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
ZWINT_chr10_56352227_56366259	56362290	C C	CATATATA others(15): Show CATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0010 a0001c0001t0005g0010	2	264	0.0076	22	c.-10 others(33): Show c.-1055_-1054insATATATATATATATATATATAT	ZWINT	ENSG00000122952.17	transcript	ENST00000373944.8	protein_coding		1032		chr10	TogoVar
ZYG11B_chr1_52721453_52832336	52773599	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0010 a0001c0001t0081g0010	1	258	0.0039	22	c.951 others(39): Show c.951+1833_951+1854dupATATATATATATATATATATAT	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(15): Show ATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0157 a0001c0001t0076g0157	1	156	0.0064	22	c.951 others(39): Show c.951+1854_951+1855insATATATATATATATATATTTTT	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(15): Show AAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02145.hp1 HG00639.hp2 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0053 a0001c0001t0006 a0001c0001t0053	a0001c0001t0006g0002 a0001c0001t0053g0004 a0001c0001t0006g0002 a0001c0001t0053g0004	2	10	0.2000	22	c.952 others(39): Show c.952-3623_952-3622insAAAAAAAAAAAAAATATATATA	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(15): Show AAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02809.hp1 HG03098.hp2 HG02280.hp1 HG02809.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0025 a0001c0001t0006 a0001c0001t0025	a0001c0001t0006g0003 a0001c0001t0025g0189 a0001c0001t0025g0191 a0001c0001t0006g0003 a0001c0001t0025g0189 a0001c0001t0025g0191	3	11	0.2727	22	c.952 others(39): Show c.952-3623_952-3622insAAAAAAAAAAAATATATATATA	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(15): Show AAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02683.hp1 HG02717.hp2 others(6): Show HG02257.hp1 HG02683.hp1 HG02717.hp2 HG02895.hp2 HG04199.hp2 NA18962.hp2 NA19004.hp1 NA19084.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0034 a0001c0001t0037 others(2): Show a0001c0001t0008 a0001c0001t0034 a0001c0001t0037 a0001c0001t0057 a0001c0001t0070	a0001c0001t0008g0165 a0001c0001t0008g0173 a0001c0001t0008g0174 others(6): Show a0001c0001t0008g0165 a0001c0001t0008g0173 a0001c0001t0008g0174 a0001c0001t0008g0183 a0001c0001t0034g0179 a0001c0001t0034g0182 a0001c0001t0037g0167 a0001c0001t0057g0172 a0001c0001t0070g0256	9	17	0.5294	22	c.952 others(39): Show c.952-3623_952-3622insAAAAAAAAAATATATATATATA	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(15): Show AAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02258.hp1 HG02602.hp1 HG01261.hp1 HG02258.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0006 a0001c0001t0008	a0001c0001t0006g0186 a0001c0001t0008g0162 a0001c0001t0008g0164 a0001c0001t0006g0186 a0001c0001t0008g0162 a0001c0001t0008g0164	3	11	0.2727	22	c.952 others(39): Show c.952-3623_952-3622insAAAAAAAATATATATATATATA	ZYG11B	ENSG00000162378.13	transcript	ENST00000294353.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZYG11B_chr1_52721453_52832336	52776229	A A	AAAATATA others(15): Show AAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01433.hp1 HG01106.hp2 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0031 a0001c0002t0031	a0001c0002t0031g0105 a0001c0002t0031g0136 a0001c0002t0031g0105 a0001c0002t0031g0136	2	10	0.2000	22	c.952 others(39): Show c.952-3623_952-3622insAATATATATATATATATATATA	ZYG11B	ENSG00000162378.13	transcript	ENST00000294353.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZYG11B_chr1_52721453_52832336	52776229	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG03834.hp1 HG01167.hp1 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0101 a0001c0002t0003g0102 a0001c0002t0003g0101 a0001c0002t0003g0102	2	10	0.2000	22	c.952 others(39): Show c.952-3608_952-3607insATATATATATATATATATATAT	ZYG11B	ENSG00000162378.13	transcript	ENST00000294353.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZYG11B_chr1_52721453_52832336	52783860	G G	GTATGTAC others(15): Show GTATGTACATACACGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01515.hp2 HG01346.hp1 HG01515.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0239 a0001c0002t0003g0249 a0001c0002t0003g0239 a0001c0002t0003g0249	2	340	0.0059	22	c.109 others(39): Show c.1093-991_1093-970dupGTACATACACGTGTGTGTATAT	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(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	100	0.0100	22	c.102 others(41): Show c.1023+2343_1023+2364dupTTTTTTTTTTTTTTTTTTTTTT	ZYX	ENSG00000159840.16	transcript	ENST00000322764.10	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr7	TogoVar

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