Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
ENPP1_chr6_131803020_131900155	131877866	A A	AAAAATAT others(4): Show AAAAATATATAT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18959.hp2 NA18941.hp2 NA18959.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0004 a0002c0002t0002 a0002c0002t0004	a0002c0002t0002g0209 a0002c0002t0004g0096 a0002c0002t0002g0209 a0002c0002t0004g0096	2	292	0.0069	11	c.189 others(28): Show c.1894-675_1894-674insAAATATATATA	ENPP1	ENSG00000197594.14	transcript	ENST00000647893.1	protein_coding	18/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP1_chr6_131803020_131900155	131896227	A A	ACACACAC others(4): Show ACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0080 a0001c0001t0007g0080	1	292	0.0034	11	c.57 others(22): Show c.5716_*5717insCACACACACAC	ENPP1	ENSG00000197594.14	transcript	ENST00000647893.1	protein_coding		1073		chr6	TogoVar
ENPP2_chr8_119552086_119643839	119554357	A A	ATATTTTT others(4): Show ATATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02486.hp1 HG02630.hp1 others(1): Show HG02258.hp2 HG02486.hp1 HG02630.hp1 HG03516.hp2	a0001 a0005 a0001 a0005	a0001c0004 a0005c0011 a0001c0004 a0005c0011	a0001c0004t0002 a0005c0011t0002 a0001c0004t0002 a0005c0011t0002	a0001c0004t0002g0217 a0001c0004t0002g0313 a0001c0004t0002g0314 others(1): Show a0001c0004t0002g0217 a0001c0004t0002g0313 a0001c0004t0002g0314 a0005c0011t0002g0220	4	340	0.0118	11	c.31 others(22): Show c.3163_*3164insAAAAAAAAATA	ENPP2	ENSG00000136960.13	transcript	ENST00000075322.11	protein_coding		2728		chr8	TogoVar
ENPP2_chr8_119552086_119643839	119554357	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0001 a0002c0018t0001	a0002c0018t0001g0011 a0002c0018t0001g0011	1	340	0.0029	11	c.31 others(22): Show c.3163_*3164insAAAAAAAAAAA	ENPP2	ENSG00000136960.13	transcript	ENST00000075322.11	protein_coding		2728		chr8	TogoVar
ENPP2_chr8_119552086_119643839	119569738	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0250 a0001c0002t0001g0250	1	340	0.0029	11	c.191 others(28): Show c.1918-369_1918-368insCACACACACAC	ENPP2	ENSG00000136960.13	transcript	ENST00000075322.11	protein_coding	20/24			chr8	TogoVar
ENPP2_chr8_119552086_119643839	119605465	T T	TGTGTGTG others(4): Show TGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA19081.hp1 HG02965.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0102 a0001c0002t0001g0045 a0001c0001t0001g0102 a0001c0002t0001g0045	2	340	0.0059	11	c.833 others(28): Show c.833+2456_833+2457insTACACACACAC	ENPP2	ENSG00000136960.13	transcript	ENST00000075322.11	protein_coding	9/24			chr8	TogoVar
ENPP3_chr6_131632302_131752410	131639265	A A	ATATATAT others(4): Show ATATATATATTT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0032 a0001c0002t0001g0032	1	278	0.0036	11	c.78+ others(26): Show c.78+1804_78+1805insATATATATTTT	ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP3_chr6_131632302_131752410	131641799	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0186 a0003c0005t0002g0186	1	278	0.0036	11	c.154 others(26): Show c.154+283_154+293dupTTTTTTTTTTT	ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP3_chr6_131632302_131752410	131678930	T T	TTTCTTTC others(4): Show TTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0014 a0014	a0014c0014 a0014c0014	a0014c0014t0001 a0014c0014t0001	a0014c0014t0001g0258 a0014c0014t0001g0258	1	278	0.0036	11	c.101 others(29): Show c.1011+993_1011+1003dupCTTTCTTTCTT	ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	11/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP3_chr6_131632302_131752410	131679086	T T	TTTCTTTC others(4): Show TTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	278	0.0036	11	c.101 others(30): Show c.1011+1148_1011+1149insCTTTCTTTCTT	ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	11/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP3_chr6_131632302_131752410	131699235	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02895.hp1 HG02897.hp1 others(6): Show HG01952.hp2 HG02895.hp1 HG02897.hp1 HG03041.hp2 HG03453.hp2 HG03540.hp1 NA18906.hp1 NA19240.hp1 NA21309.hp1	a0001 a0012 a0018 a0001 a0012 a0018	a0001c0002 a0012c0022 a0018c0017 a0001c0002 a0012c0022 a0018c0017	a0001c0002t0001 a0001c0002t0002 a0012c0022t0001 others(1): Show a0001c0002t0001 a0001c0002t0002 a0012c0022t0001 a0018c0017t0001	a0001c0002t0001g0030 a0001c0002t0001g0075 a0001c0002t0001g0076 others(6): Show a0001c0002t0001g0030 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0174 a0001c0002t0002g0074 a0001c0002t0002g0078 a0001c0002t0002g0079 a0012c0022t0001g0114 a0018c0017t0001g0094	9	278	0.0324	11	c.141 others(30): Show c.1412+5622_1412+5632dupAAAAAAAAAAA	ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	15/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP6_chr4_184083706_184222873	184113920	T T	TTTCTTTC others(4): Show TTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0276 a0002c0001t0001g0276	1	320	0.0031	11	c.856 others(28): Show c.856-1122_856-1112dupGAAAGAAAGAA	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	5/7			chr4	TogoVar
ENPP6_chr4_184083706_184222873	184113960	T T	TTTCTTTC others(4): Show TTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0038 a0001c0002t0002g0038	1	320	0.0031	11	c.856 others(28): Show c.856-1152_856-1151insGAAAGAAAGAA	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	5/7			chr4	TogoVar
ENPP6_chr4_184083706_184222873	184113968	T T	TTTCTTTC others(4): Show TTTCTTTCTCTC	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0194 a0002c0001t0001g0194	1	320	0.0031	11	c.856 others(28): Show c.856-1160_856-1159insGAGAGAAAGAA	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	5/7			chr4	TogoVar
ENPP6_chr4_184083706_184222873	184131201	C C	CTTTCTTT others(4): Show CTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01978.hp2 HG02071.hp2 others(13): Show HG01243.hp2 HG01978.hp2 HG02071.hp2 HG02280.hp1 HG02602.hp2 HG02622.hp1 HG02698.hp2 HG02723.hp2 HG03130.hp1 HG03516.hp2 HG06807.hp2 NA18954.hp2 NA18968.hp2 NA18969.hp2 NA19060.hp1 NA19240.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0001c0003 a0002c0001 others(1): Show a0001c0002 a0001c0003 a0002c0001 a0005c0006	a0001c0002t0002 a0001c0002t0005 a0001c0002t0012 others(4): Show a0001c0002t0002 a0001c0002t0005 a0001c0002t0012 a0001c0003t0003 a0001c0003t0004 a0002c0001t0001 a0005c0006t0014	a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0185 others(13): Show a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0185 a0001c0002t0002g0222 a0001c0002t0005g0022 a0001c0002t0005g0023 a0001c0002t0005g0039 a0001c0002t0012g0132 a0001c0003t0003g0219 a0001c0003t0004g0308 a0002c0001t0001g0057 a0002c0001t0001g0109 a0002c0001t0001g0199 a0002c0001t0001g0312 a0002c0001t0001g0314 a0005c0006t0014g0244	16	320	0.0500	11	c.422 others(28): Show c.422-6930_422-6929insAAAGAAAGAAA	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	2/7			chr4	TogoVar
ENPP6_chr4_184083706_184222873	184214243	T T	TAAAAAAA others(4): Show TAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0025 a0001c0017t0025	a0001c0017t0025g0315 a0001c0017t0025g0315	1	320	0.0031	11	c.241 others(28): Show c.241+3335_241+3336insCTTTTTTTTTT	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	1/7			chr4	TogoVar
ENPP7_chr17_79725943_79747219	79746195	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0013	1	430	0.0023	11	c.44 others(22): Show c.4418_*4419insAAAAAAAAAAA	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding		3977		chr17	TogoVar
ENTHD1_chr22_39738044_39898760	39766019	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01070.hp2 HG01106.hp2 others(5): Show HG00323.hp1 HG01070.hp2 HG01106.hp2 HG01192.hp1 HG02922.hp1 HG03704.hp2 HG04115.hp2 NA20905.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0002 a0006c0010t0001 a0001c0001t0002 a0006c0010t0001	a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 others(5): Show a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0206 a0001c0001t0002g0209 a0006c0010t0001g0153	8	218	0.0367	11	c.833 others(26): Show c.833-421_833-411dupTTTTTTTTTTT	ENTHD1	ENSG00000176177.10	transcript	ENST00000325157.7	protein_coding	5/6			chr22	TogoVar
ENTHD1_chr22_39738044_39898760	39780998	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA18979.hp1 HG02257.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0028 a0001c0001t0001g0034	2	218	0.0092	11	c.833 others(30): Show c.833-15400_833-15390dupTTTTTTTTTTT	ENTHD1	ENSG00000176177.10	transcript	ENST00000325157.7	protein_coding	5/6			chr22	TogoVar
ENTPD1_chr10_95751163_95882266	95760814	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02572.hp1 HG02559.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0031 a0001c0002t0057 a0001c0002t0031 a0001c0002t0057	a0001c0002t0031g0173 a0001c0002t0057g0172 a0001c0002t0031g0173 a0001c0002t0057g0172	2	340	0.0059	11	c.16+ others(26): Show c.16+4582_16+4592dupTTTTTTTTTTT	ENTPD1	ENSG00000138185.20	transcript	ENST00000371205.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
ENTPD3_chr3_40382184_40433744	40402114	T T	TTTTTTTT others(4): Show TTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02071.hp2 NA18949.hp1 others(5): Show HG00438.hp2 HG02071.hp2 NA18949.hp1 NA18979.hp1 NA19006.hp2 NA19066.hp1 NA19075.hp2 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0071 a0002c0002t0002g0091 a0002c0002t0002g0104 others(5): Show a0002c0002t0002g0071 a0002c0002t0002g0091 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0113 a0002c0002t0002g0121 a0002c0002t0002g0132	8	374	0.0214	11	c.286 others(28): Show c.286+1111_286+1112insTTCTTTTTTTT	ENTPD3	ENSG00000168032.10	transcript	ENST00000301825.8	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
ENTPD3_chr3_40382184_40433744	40402115	T T	TTTTTTTT others(4): Show TTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0064 a0002c0002t0002g0064	1	374	0.0027	11	c.286 others(28): Show c.286+1111_286+1112insTTTCTTTTTTT	ENTPD3	ENSG00000168032.10	transcript	ENST00000301825.8	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
ENTPD4_chr8_23424162_23462647	23427124	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp1 NA18986.hp2 NA19085.hp1 NA18984.hp1 NA18986.hp2 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0006 a0002c0002t0005g0130 a0002c0002t0005g0006 a0002c0002t0005g0130	3	412	0.0073	11	c.57 others(22): Show c.5791_*5801dupTTTTTTTTTTT	ENTPD4	ENSG00000197217.13	transcript	ENST00000358689.9	protein_coding		2037		chr8	TogoVar
ENTPD5_chr14_73958230_74024288	73985273	G G	GAACCCAA others(4): Show GAACCCAATGAA	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0290 a0001c0002t0020g0290	1	380	0.0026	11	c.297 others(28): Show c.297+1540_297+1541insTTCATTGGGTT	ENTPD5	ENSG00000187097.13	transcript	ENST00000334696.11	protein_coding	5/15			chr14	TogoVar
ENTPD5_chr14_73958230_74024288	74001666	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	380	0.0026	11	c.-71 others(28): Show c.-71+9414_-71+9424dupTTTTTTTTTTT	ENTPD5	ENSG00000187097.13	transcript	ENST00000334696.11	protein_coding	3/15			chr14	TogoVar
ENTREP1_chr9_69320215_69397456	69327634	G G	GAAAAGAA others(4): Show GAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(164): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00423.hp2 HG00438.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02055.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02258.hp2 HG02300.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02630.hp1 HG02698.hp1 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18939.hp2 NA18943.hp2 NA18944.hp2 NA18951.hp1 NA18955.hp2 NA18962.hp1 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18985.hp1 NA18990.hp1 NA18991.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19065.hp2 NA19067.hp2 NA19070.hp2 NA19074.hp1 NA19076.hp2 NA19077.hp2 NA19079.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0006 a0009 a0001 a0006 a0009	a0001c0001 a0006c0008 a0009c0011 a0001c0001 a0006c0008 a0009c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0006c0008t0001 a0009c0011t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(155): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0013 a0001c0001t0002g0020 a0001c0001t0002g0057 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0100 a0001c0001t0002g0129 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0144 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0152 a0001c0001t0002g0155 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0182 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0285 a0001c0001t0007g0181 a0001c0001t0008g0101 a0006c0008t0001g0171 a0009c0011t0001g0110	167	342	0.4883	11	c.414 others(28): Show c.414+1915_414+1916insGAAAAGAAAAA	ENTREP1	ENSG00000135063.20	transcript	ENST00000303068.14	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
ENTREP2_chr15_29115252_29575979	29219614	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0107 a0003c0006t0002g0107	1	125	0.0080	11	c.388 others(30): Show c.388-23051_388-23050insATATATATATA	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	3/10			chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29264154	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0041 a0001c0002t0001g0041	1	125	0.0080	11	c.277 others(30): Show c.277-11687_277-11677dupTTTTTTTTTTT	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	2/10			chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29376680	T T	TCTTTGCC others(4): Show TCTTTGCCCTCC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0004 a0004	a0004c0017 a0004c0017	a0004c0017t0014 a0004c0017t0014	a0004c0017t0014g0013 a0004c0017t0014g0013	1	125	0.0080	11	c.276 others(28): Show c.276+5084_276+5094dupGGAGGGCAAAG	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	2/10			chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29444170	C C	CAGACACG others(4): Show CAGACACGAAAG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02976.hp2 HG03579.hp1 others(1): Show HG02809.hp2 HG02976.hp2 HG03579.hp1 NA20300.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0002 a0001c0024 a0003c0007 others(1): Show a0001c0002 a0001c0024 a0003c0007 a0005c0018	a0001c0002t0001 a0001c0024t0010 a0003c0007t0002 others(1): Show a0001c0002t0001 a0001c0024t0010 a0003c0007t0002 a0005c0018t0006	a0001c0002t0001g0082 a0001c0024t0010g0062 a0003c0007t0002g0074 others(1): Show a0001c0002t0001g0082 a0001c0024t0010g0062 a0003c0007t0002g0074 a0005c0018t0006g0084	4	125	0.0320	11	c.220 others(30): Show c.220-62340_220-62339insCTTTCGTGTCT	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10			chr15	TogoVar
ENTREP3_chr1_155242205_155260483	155252722	A A	ATATATAT others(4): Show ATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	395	0.0025	11	c.622 others(26): Show c.622-818_622-817insAAAAATATATA	ENTREP3	ENSG00000160767.23	transcript	ENST00000361361.7	protein_coding	5/11			chr1	TogoVar
ENTREP3_chr1_155242205_155260483	155252723	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02630.hp2 HG03098.hp1 others(2): Show HG02027.hp2 HG02630.hp2 HG03098.hp1 HG03688.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0045 a0001c0001t0001g0213 a0001c0001t0002g0030 a0001c0001t0001g0045 a0001c0001t0001g0213 a0001c0001t0002g0030	5	395	0.0127	11	c.622 others(26): Show c.622-819_622-818insTATATATATAT	ENTREP3	ENSG00000160767.23	transcript	ENST00000361361.7	protein_coding	5/11			chr1	TogoVar
EOGT_chr3_68970225_69018684	69007507	C C	CGGGGGGG others(4): Show CGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00673.hp1 HG01074.hp1 others(17): Show HG00140.hp2 HG00673.hp1 HG01074.hp1 HG01099.hp2 HG01167.hp2 HG01346.hp1 HG01952.hp1 HG02015.hp1 HG02027.hp2 HG02055.hp2 HG02300.hp2 HG02895.hp2 HG02896.hp1 HG02976.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG04199.hp2 NA19090.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0007 others(2): Show a0001c0001 a0001c0004 a0001c0007 a0001c0010 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0034 a0001c0001t0060 a0001c0004t0007 a0001c0004t0013 a0001c0007t0017 a0001c0010t0001 a0002c0005t0004	a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0195 others(16): Show a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0195 a0001c0001t0002g0196 a0001c0001t0003g0391 a0001c0001t0005g0246 a0001c0001t0013g0097 a0001c0001t0014g0066 a0001c0001t0016g0067 a0001c0001t0016g0086 a0001c0001t0034g0162 a0001c0001t0060g0091 a0001c0004t0007g0074 a0001c0004t0013g0085 a0001c0007t0017g0052 a0001c0007t0017g0073 a0001c0007t0017g0075 a0001c0010t0001g0194 a0002c0005t0004g0017	20	444	0.0451	11	c.420 others(26): Show c.420+205_420+206insCCCCCCCCCCC	EOGT	ENSG00000163378.14	transcript	ENST00000383701.8	protein_coding	6/17			chr3	TogoVar
EOGT_chr3_68970225_69018684	69007511	G G	GGGGGGGG others(4): Show GGGGGGGGGGGC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG03491.hp1 HG04204.hp2 HG01074.hp2 HG03491.hp1 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0009 a0001c0002t0001 a0001c0002t0009	a0001c0002t0001g0282 a0001c0002t0001g0336 a0001c0002t0009g0283 a0001c0002t0001g0282 a0001c0002t0001g0336 a0001c0002t0009g0283	3	444	0.0068	11	c.420 others(26): Show c.420+201_420+202insGCCCCCCCCCC	EOGT	ENSG00000163378.14	transcript	ENST00000383701.8	protein_coding	6/17			chr3	TogoVar
EOGT_chr3_68970225_69018684	69011193	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00408.hp1 others(154): Show HG00099.hp1 HG00280.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01192.hp1 HG01243.hp2 HG01361.hp2 HG01433.hp2 HG01516.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02965.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03654.hp1 HG03704.hp2 HG03942.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp2 NA18989.hp2 NA18990.hp1 NA18991.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19090.hp1 NA19240.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0001c0002 a0001c0007 others(8): Show a0001c0001 a0001c0002 a0001c0007 a0001c0009 a0001c0011 a0001c0012 a0001c0020 a0001c0021 a0002c0006 a0003c0008 a0008c0014	a0001c0001t0003 a0001c0001t0029 a0001c0001t0042 others(42): Show a0001c0001t0003 a0001c0001t0029 a0001c0001t0042 a0001c0001t0057 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0011 a0001c0002t0014 a0001c0002t0018 a0001c0002t0021 a0001c0002t0022 a0001c0002t0024 a0001c0002t0025 a0001c0002t0026 a0001c0002t0037 a0001c0002t0046 a0001c0002t0051 a0001c0002t0052 a0001c0002t0053 a0001c0002t0056 a0001c0002t0059 a0001c0002t0062 a0001c0007t0017 a0001c0009t0004 a0001c0009t0006 a0001c0009t0054 a0001c0009t0061 a0001c0011t0004 a0001c0012t0036 a0001c0020t0005 a0001c0021t0041 a0002c0006t0010 a0003c0008t0001 a0003c0008t0005 a0003c0008t0029 a0003c0008t0032 a0003c0008t0063 a0008c0014t0001	a0001c0001t0003g0051 a0001c0001t0029g0044 a0001c0001t0042g0050 others(132): Show a0001c0001t0003g0051 a0001c0001t0029g0044 a0001c0001t0042g0050 a0001c0001t0057g0331 a0001c0002t0001g0001 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0190 a0001c0002t0001g0273 a0001c0002t0001g0282 a0001c0002t0001g0288 a0001c0002t0001g0290 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0302 a0001c0002t0001g0304 a0001c0002t0001g0305 a0001c0002t0001g0308 a0001c0002t0001g0309 a0001c0002t0001g0312 a0001c0002t0001g0313 a0001c0002t0001g0327 a0001c0002t0001g0329 a0001c0002t0001g0330 a0001c0002t0001g0332 a0001c0002t0001g0335 a0001c0002t0001g0336 a0001c0002t0001g0339 a0001c0002t0001g0340 a0001c0002t0001g0341 a0001c0002t0001g0346 a0001c0002t0001g0347 a0001c0002t0001g0351 a0001c0002t0001g0352 a0001c0002t0001g0353 a0001c0002t0001g0354 a0001c0002t0001g0360 a0001c0002t0001g0361 a0001c0002t0001g0363 a0001c0002t0001g0364 a0001c0002t0001g0369 a0001c0002t0001g0370 a0001c0002t0001g0371 a0001c0002t0001g0375 a0001c0002t0001g0380 a0001c0002t0001g0382 a0001c0002t0001g0383 a0001c0002t0001g0384 a0001c0002t0001g0385 a0001c0002t0001g0386 a0001c0002t0002g0280 a0001c0002t0002g0350 a0001c0002t0002g0357 a0001c0002t0003g0027 a0001c0002t0003g0296 a0001c0002t0003g0333 a0001c0002t0003g0337 a0001c0002t0003g0342 a0001c0002t0003g0355 a0001c0002t0003g0376 a0001c0002t0004g0029 a0001c0002t0004g0284 a0001c0002t0004g0297 a0001c0002t0004g0307 a0001c0002t0004g0324 a0001c0002t0004g0362 a0001c0002t0005g0274 a0001c0002t0005g0275 a0001c0002t0005g0276 a0001c0002t0005g0277 a0001c0002t0005g0311 a0001c0002t0005g0322 a0001c0002t0006g0021 a0001c0002t0006g0285 a0001c0002t0006g0300 a0001c0002t0006g0306 a0001c0002t0008g0036 a0001c0002t0008g0301 a0001c0002t0008g0317 a0001c0002t0008g0318 a0001c0002t0008g0319 a0001c0002t0008g0320 a0001c0002t0008g0323 a0001c0002t0008g0367 a0001c0002t0009g0283 a0001c0002t0009g0286 a0001c0002t0010g0272 a0001c0002t0010g0358 a0001c0002t0011g0030 a0001c0002t0014g0020 a0001c0002t0014g0294 a0001c0002t0018g0292 a0001c0002t0018g0344 a0001c0002t0018g0365 a0001c0002t0018g0366 a0001c0002t0021g0293 a0001c0002t0022g0328 a0001c0002t0022g0343 a0001c0002t0022g0348 a0001c0002t0022g0359 a0001c0002t0024g0338 a0001c0002t0025g0345 a0001c0002t0025g0372 a0001c0002t0026g0303 a0001c0002t0026g0310 a0001c0002t0037g0031 a0001c0002t0046g0289 a0001c0002t0051g0349 a0001c0002t0052g0045 a0001c0002t0053g0295 a0001c0002t0056g0381 a0001c0002t0059g0291 a0001c0002t0062g0265 a0001c0007t0017g0052 a0001c0009t0004g0368 a0001c0009t0004g0374 a0001c0009t0006g0373 a0001c0009t0054g0314 a0001c0009t0061g0356 a0001c0011t0004g0102 a0001c0012t0036g0024 a0001c0020t0005g0287 a0001c0021t0041g0279 a0002c0006t0010g0022 a0002c0006t0010g0023 a0002c0006t0010g0321 a0003c0008t0001g0032 a0003c0008t0005g0033 a0003c0008t0029g0035 a0003c0008t0032g0034 a0003c0008t0063g0393 a0008c0014t0001g0334	157	444	0.3536	11	c.-15 others(26): Show c.-15+732_-15+742dupAAAAAAAAAAA	EOGT	ENSG00000163378.14	transcript	ENST00000383701.8	protein_coding	3/17			chr3	TogoVar
EOLA1_chrX_149536012_149553331	149539081	A A	AAAAGAGA others(4): Show AAAAGAGACGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0013 a0002c0004t0013	a0002c0004t0013g0021 a0002c0004t0013g0021	2	315	0.0064	11	c.-24 others(22): Show c.-2492_-2491insAAAGAGACGTT	EOLA1	ENSG00000197620.11	transcript	ENST00000393985.8	protein_coding		1930		chrX	TogoVar
EOLA2_chrX_149927197_149943491	149936084	T T	TTATGTCA others(4): Show TTATGTCACTCC	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	331	0.0030	11	c.-16 others(30): Show c.-163+1338_-163+1348dupGGAGTGACATA	EOLA2	ENSG00000197021.9	transcript	ENST00000370406.8	protein_coding	2/4			chrX	TogoVar
EOLA2_chrX_149927197_149943491	149939972	C C	CAGGGTGG others(4): Show CAGGGTGGAGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	331	0.0030	11	c.-19 others(22): Show c.-1991_-1990insAGCTCCACCCT	EOLA2	ENSG00000197021.9	transcript	ENST00000370406.8	protein_coding		1482		chrX	TogoVar
EOMES_chr3_27710953_27727323	27711316	A A	ATATATAT others(4): Show ATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 NA19079.hp1 HG02965.hp1 NA19079.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0004 a0001c0001t0005 a0002c0002t0004	a0001c0001t0005g0031 a0002c0002t0004g0015 a0001c0001t0005g0031 a0002c0002t0004g0015	2	400	0.0050	11	c.57 others(22): Show c.5753_*5754insATATATATATA	EOMES	ENSG00000163508.13	transcript	ENST00000449599.4	protein_coding		4636		chr3	TogoVar
EOMES_chr3_27710953_27727323	27711317	T T	TATATATA others(4): Show TATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG03239.hp2 HG01123.hp1 HG03239.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0001 a0002c0002t0002g0013 a0001c0001t0001g0001 a0002c0002t0002g0013	2	400	0.0050	11	c.57 others(22): Show c.5752_*5753insTATATATATAT	EOMES	ENSG00000163508.13	transcript	ENST00000449599.4	protein_coding		4635		chr3	TogoVar
EP300_chr22_41087592_41185077	41167814	G G	GGTTTTTT others(4): Show GGTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0196 a0001c0001t0015g0196	1	300	0.0033	11	c.387 others(28): Show c.3875-635_3875-634insGTTTTTTTTTT	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	23/30			chr22	TogoVar
EP400_chr12_131944942_132085460	132058513	G G	GGCTAATT others(4): Show GGCTAATTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG02965.hp1 others(5): Show HG01167.hp1 HG01169.hp2 HG02965.hp1 HG02976.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG06807.hp2	a0003 a0008 a0003 a0008	a0003c0009 a0003c0010 a0008c0028 a0003c0009 a0003c0010 a0008c0028	a0003c0009t0004 a0003c0010t0004 a0008c0028t0004 a0003c0009t0004 a0003c0010t0004 a0008c0028t0004	a0003c0009t0004g0078 a0003c0009t0004g0079 a0003c0009t0004g0153 others(5): Show a0003c0009t0004g0078 a0003c0009t0004g0079 a0003c0009t0004g0153 a0003c0009t0004g0156 a0003c0010t0004g0150 a0003c0010t0004g0154 a0003c0010t0004g0157 a0008c0028t0004g0155	8	208	0.0385	11	c.788 others(30): Show c.7884+3315_7884+3316insTGCTAATTTTT	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	45/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
EP400_chr12_131944942_132085460	132083498	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02258.hp1 HG02630.hp2 others(3): Show HG02109.hp2 HG02258.hp1 HG02630.hp2 HG02647.hp2 HG03453.hp1 NA19043.hp2	a0002 a0004 a0005 others(1): Show a0002 a0004 a0005 a0006	a0002c0001 a0002c0022 a0004c0013 others(2): Show a0002c0001 a0002c0022 a0004c0013 a0005c0007 a0006c0054	a0002c0001t0003 a0002c0022t0003 a0004c0013t0006 others(2): Show a0002c0001t0003 a0002c0022t0003 a0004c0013t0006 a0005c0007t0003 a0006c0054t0001	a0002c0001t0003g0133 a0002c0022t0003g0131 a0004c0013t0006g0054 others(3): Show a0002c0001t0003g0133 a0002c0022t0003g0131 a0004c0013t0006g0054 a0004c0013t0006g0055 a0005c0007t0003g0135 a0006c0054t0001g0026	6	208	0.0289	11	c.58 others(22): Show c.5825_*5826insAAAAAAAAAAA	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding		3039		chr12	TogoVar
EPAS1_chr2_46292407_46391697	46359257	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01993.hp1 NA18985.hp2 others(2): Show HG01952.hp1 HG01993.hp1 NA18985.hp2 NA19081.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0190 a0001c0001t0001g0209 others(2): Show a0001c0001t0001g0123 a0001c0001t0001g0190 a0001c0001t0001g0209 a0001c0001t0001g0235 a0001c0001t0001g0236	5	326	0.0153	11	c.455 others(28): Show c.455-1367_455-1357dupAAAAAAAAAAA	EPAS1	ENSG00000116016.14	transcript	ENST00000263734.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPB41L1_chr20_36149740_36237799	36204471	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0087 a0001c0002t0010g0087	1	236	0.0042	11	c.166 others(30): Show c.1669-5001_1669-4991dupTTTTTTTTTTT	EPB41L1	ENSG00000088367.23	transcript	ENST00000338074.7	protein_coding	14/21		INFO_REALIGN_3_PRIME	chr20	TogoVar
EPB41L2_chr6_130834347_131068245	130937821	G G	GAAAAAAA others(4): Show GAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02451.hp1 HG02717.hp1 others(3): Show HG02280.hp1 HG02451.hp1 HG02717.hp1 HG03098.hp2 HG03209.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0327 others(3): Show a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0327 a0001c0001t0001g0334 a0001c0001t0001g0340 a0001c0001t0002g0328	6	356	0.0169	11	c.706 others(30): Show c.706-11123_706-11113dupTTTTTTTTTTT	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	3/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	130954040	C C	CTTTCTTT others(4): Show CTTTCTTTTTTT	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0129 a0001c0001t0013g0129	1	356	0.0028	11	c.705 others(28): Show c.705+1064_705+1065insAAAAAAAGAAA	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	3/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	130954040	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG03579.hp2 HG01123.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0100 a0001c0001t0005g0011 a0001c0001t0002g0100 a0001c0001t0005g0011	2	356	0.0056	11	c.705 others(28): Show c.705+1054_705+1064dupAAAAAAAAAAA	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	3/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	130974351	T T	TCTATGGT others(4): Show TCTATGGTATTA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02970.hp2 HG03579.hp1 others(1): Show HG01891.hp2 HG02970.hp2 HG03579.hp1 HG06807.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0008c0010 a0001c0001 a0001c0002 a0008c0010	a0001c0001t0004 a0001c0002t0007 a0008c0010t0004 a0001c0001t0004 a0001c0002t0007 a0008c0010t0004	a0001c0001t0004g0239 a0001c0001t0004g0240 a0001c0002t0007g0238 others(1): Show a0001c0001t0004g0239 a0001c0001t0004g0240 a0001c0002t0007g0238 a0008c0010t0004g0241	4	356	0.0112	11	c.-14 others(30): Show c.-14-17853_-14-17852insTAATACCATAG	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	1/19			chr6	TogoVar
EPB41L3_chr18_5387386_5548997	5541252	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02809.hp2 HG01884.hp1 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0027 a0001c0002t0002g0028	2	222	0.0090	11	c.-12 others(28): Show c.-12+2650_-12+2660dupTTTTTTTTTTT	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding	1/22			chr18	TogoVar

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