Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
COP1_chr1_175939831_176212286	175976270	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01169.hp2 HG01891.hp1 others(12): Show HG00609.hp1 HG01169.hp2 HG01891.hp1 HG02155.hp2 NA18946.hp2 NA18948.hp2 NA18956.hp1 NA18962.hp1 NA18979.hp2 NA18989.hp1 NA19007.hp1 NA19054.hp2 NA19062.hp2 NA19079.hp1 NA19080.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0144 a0001c0001t0001g0155 a0001c0001t0001g0170 others(12): Show a0001c0001t0001g0144 a0001c0001t0001g0155 a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0187 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0256 a0003c0004t0001g0195	15	300	0.0500	8	c.213 others(29): Show c.2133+10665_2133+10672dupAAAAAAAA	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar
COP1_chr1_175939831_176212286	176028696	C C	CATATATA others(1): Show CATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01358.hp1 HG01981.hp1 others(26): Show HG01256.hp2 HG01358.hp1 HG01981.hp1 HG02074.hp2 HG02080.hp2 HG02135.hp2 HG02258.hp1 HG02293.hp2 HG02647.hp2 HG02738.hp2 HG02886.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp2 HG03225.hp1 HG03669.hp1 HG04204.hp1 NA18954.hp1 NA18955.hp2 NA18962.hp1 NA18967.hp1 NA18980.hp1 NA19011.hp2 NA19062.hp2 NA19068.hp2 NA19074.hp1 NA19090.hp2 NA19240.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0006t0012	a0001c0001t0001g0034 a0001c0001t0001g0047 a0001c0001t0001g0050 others(26): Show a0001c0001t0001g0034 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0165 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0207 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0221 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0003g0300 a0001c0002t0002g0027 a0001c0006t0012g0268	29	300	0.0967	8	c.161 others(27): Show c.1613-1016_1613-1009dupATATATAT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	14/19			chr1	TogoVar
COP1_chr1_175939831_176212286	176127561	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01109.hp1 HG01167.hp2 others(9): Show HG00140.hp2 HG01109.hp1 HG01167.hp2 HG01169.hp1 HG01361.hp1 HG01433.hp1 HG01993.hp2 HG02300.hp1 HG02647.hp2 HG02818.hp1 HG03130.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0287 others(9): Show a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0003g0294 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0004g0277 a0001c0001t0004g0278 a0001c0001t0004g0279	12	300	0.0400	8	c.968 others(25): Show c.968+7441_968+7448dupCACACACA	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	8/19			chr1	TogoVar
COP1_chr1_175939831_176212286	176143123	C C	CGAGAGAG others(1): Show CGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01074.hp1 HG01109.hp1 others(46): Show HG00738.hp1 HG01074.hp1 HG01109.hp1 HG01192.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01884.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02258.hp2 HG02293.hp1 HG02300.hp1 HG02559.hp2 HG02622.hp1 HG02647.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp1 HG03139.hp1 HG03225.hp2 HG03540.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18962.hp2 NA18970.hp2 NA18995.hp1 NA19030.hp2 NA19064.hp2 NA19084.hp2 NA19240.hp1 NA20129.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0002t0008 a0001c0002t0011 a0003c0004t0001	a0001c0001t0001g0181 a0001c0001t0003g0282 a0001c0001t0003g0283 others(46): Show a0001c0001t0001g0181 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0027 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0008g0026 a0001c0002t0011g0267 a0003c0004t0001g0226 a0003c0004t0001g0227	49	300	0.1633	8	c.831 others(25): Show c.831+5875_831+5882dupTCTCTCTC	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	6/19			chr1	TogoVar
COP1_chr1_175939831_176212286	176143150	G G	GCGAGAGA others(1): Show GCGAGAGAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02976.hp1 HG03139.hp2 others(2): Show HG01891.hp1 HG02976.hp1 HG03139.hp2 HG03195.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 others(2): Show a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173	5	300	0.0167	8	c.831 others(25): Show c.831+5855_831+5856insTTCTCTCG	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	6/19			chr1	TogoVar
COP1_chr1_175939831_176212286	176151353	A A	AAAAGAAA others(1): Show AAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00642.hp1 HG01099.hp1 others(22): Show HG00597.hp1 HG00642.hp1 HG01099.hp1 HG01256.hp2 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01978.hp2 HG01993.hp2 HG02056.hp1 HG02135.hp2 HG02293.hp1 HG02300.hp1 HG02572.hp2 HG02602.hp1 HG03098.hp2 HG03130.hp1 HG03831.hp1 NA18948.hp2 NA18957.hp1 NA18979.hp2 NA18990.hp1 NA19068.hp2 NA19085.hp1 NA21309.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0004 a0005c0007 a0001c0001 a0003c0004 a0005c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0003c0004t0001 a0005c0007t0001	a0001c0001t0001g0135 a0001c0001t0001g0143 a0001c0001t0001g0146 others(22): Show a0001c0001t0001g0135 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0223 a0001c0001t0001g0233 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0253 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0287 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0004g0279 a0003c0004t0001g0189 a0003c0004t0001g0195 a0005c0007t0001g0215	25	300	0.0833	8	c.763 others(25): Show c.763-2287_763-2280dupCTTTCTTT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	5/19			chr1	TogoVar
COP1_chr1_175939831_176212286	176165361	C C	CGTGTGTG others(1): Show CGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01243.hp2 HG01993.hp1 others(5): Show HG00741.hp2 HG01243.hp2 HG01993.hp1 HG02145.hp1 HG03471.hp1 NA18954.hp2 NA18979.hp1 NA19080.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0004 a0004c0005t0001 a0001c0001t0001 a0001c0001t0004 a0004c0005t0001	a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0072 others(5): Show a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0072 a0001c0001t0001g0083 a0001c0001t0001g0136 a0001c0001t0001g0261 a0001c0001t0004g0274 a0004c0005t0001g0031	8	300	0.0267	8	c.566 others(25): Show c.566-1478_566-1471dupACACACAC	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	3/19			chr1	TogoVar
COP1_chr1_175939831_176212286	176173986	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp1 HG01175.hp1 others(33): Show HG00642.hp1 HG00738.hp1 HG01175.hp1 HG01257.hp1 HG01891.hp1 HG01934.hp1 HG01978.hp2 HG01993.hp2 HG02155.hp2 HG02300.hp2 HG02486.hp1 HG02572.hp2 HG02622.hp2 HG02886.hp2 HG02897.hp1 HG02976.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03579.hp2 HG04199.hp2 NA18946.hp2 NA18956.hp1 NA18970.hp2 NA18979.hp2 NA18980.hp1 NA18993.hp2 NA19005.hp2 NA19007.hp1 NA19011.hp1 NA19054.hp2 NA19062.hp2 NA19064.hp1 NA19084.hp2 NA19085.hp1 NA20300.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0003c0004 a0007c0009 a0001c0001 a0003c0004 a0007c0009	a0001c0001t0001 a0001c0001t0003 a0003c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0003c0004t0001 a0007c0009t0001	a0001c0001t0001g0135 a0001c0001t0001g0143 a0001c0001t0001g0144 others(33): Show a0001c0001t0001g0135 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0211 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0251 a0001c0001t0003g0284 a0003c0004t0001g0189 a0003c0004t0001g0226 a0003c0004t0001g0227 a0007c0009t0001g0247	36	300	0.1200	8	c.565 others(25): Show c.565+1916_565+1923dupTTTTTTTT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	3/19			chr1	TogoVar
COPA_chr1_160283594_160348250	160300344	A A	AAAATAAA others(1): Show AAAATAAAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01255.hp1 HG02132.hp2 others(3): Show HG00733.hp2 HG01255.hp1 HG02132.hp2 HG02572.hp1 NA18953.hp2 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0212 a0001c0001t0001g0264 a0001c0001t0001g0292 others(3): Show a0001c0001t0001g0212 a0001c0001t0001g0264 a0001c0001t0001g0292 a0001c0001t0001g0308 a0001c0001t0001g0313 a0001c0001t0007g0184	6	366	0.0164	8	c.166 others(27): Show c.1668-1088_1668-1081dupATTTATTT	COPA	ENSG00000122218.17	transcript	ENST00000241704.8	protein_coding	17/32			chr1	TogoVar
COPA_chr1_160283594_160348250	160322989	G G	GCACACAC others(1): Show GCACACACA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01109.hp1 HG02055.hp2 others(11): Show HG00741.hp1 HG01109.hp1 HG02055.hp2 HG02109.hp2 HG02451.hp1 HG02630.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02895.hp1 HG02965.hp1 HG03195.hp1 HG03225.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0007 a0002c0004t0004 a0001c0001t0007 a0002c0004t0004	a0001c0001t0007g0022 a0001c0001t0007g0084 a0001c0001t0007g0183 others(10): Show a0001c0001t0007g0022 a0001c0001t0007g0084 a0001c0001t0007g0183 a0001c0001t0007g0185 a0001c0001t0007g0186 a0001c0001t0007g0187 a0001c0001t0007g0188 a0002c0004t0004g0069 a0002c0004t0004g0071 a0002c0004t0004g0072 a0002c0004t0004g0073 a0002c0004t0004g0075 a0002c0004t0004g0076	14	366	0.0383	8	c.706 others(23): Show c.706+434_706+441dupTGTGTGTG	COPA	ENSG00000122218.17	transcript	ENST00000241704.8	protein_coding	8/32			chr1	TogoVar
COPB1_chr11_14452512_14504811	14470899	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG03195.hp2 NA18963.hp2 others(1): Show HG01192.hp1 HG03195.hp2 NA18963.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0328 a0001c0001t0001g0331 a0001c0001t0002g0008 a0001c0001t0001g0328 a0001c0001t0001g0331 a0001c0001t0002g0008	4	386	0.0104	8	c.173 others(27): Show c.1738-1344_1738-1337dupGTGTGTGT	COPB1	ENSG00000129083.13	transcript	ENST00000439561.7	protein_coding	14/21			chr11	TogoVar
COPB2_chr3_139352406_139394647	139388497	C C	CCTCTGTT others(1): Show CCTCTGTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00438.hp1 others(148): Show HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01978.hp1 HG01978.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02698.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG03017.hp2 HG03130.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18961.hp1 NA18961.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA18988.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19002.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19030.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19080.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0005t0001 a0002c0003t0001 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(83): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0003g0065 a0001c0001t0004g0154 a0001c0002t0001g0010 a0001c0005t0001g0152 a0002c0003t0001g0082 a0002c0003t0001g0091 a0002c0003t0001g0092 a0003c0004t0001g0058 a0003c0004t0001g0059	151	264	0.5720	8	c.3+1 others(21): Show c.3+1050_3+1051insAAACAGAG	COPB2	ENSG00000184432.11	transcript	ENST00000333188.10	protein_coding	1/21			chr3	TogoVar
COPG1_chr3_129244606_129282773	129247202	A A	ATGTGTGT others(1): Show ATGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02886.hp1 HG02922.hp1 others(5): Show HG02647.hp2 HG02886.hp1 HG02922.hp1 HG03209.hp1 HG03669.hp1 HG04199.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0001c0013	a0001c0001t0001 a0001c0002t0002 a0001c0009t0002 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0009t0002 a0001c0013t0002	a0001c0001t0001g0095 a0001c0002t0002g0026 a0001c0002t0002g0057 others(5): Show a0001c0001t0001g0095 a0001c0002t0002g0026 a0001c0002t0002g0057 a0001c0002t0002g0059 a0001c0002t0002g0063 a0001c0009t0002g0072 a0001c0009t0002g0073 a0001c0013t0002g0091	8	326	0.0245	8	c.-25 others(19): Show c.-2508_-2507insTGTGTGTG	COPG1	ENSG00000181789.14	transcript	ENST00000314797.10	protein_coding		2403		chr3	TogoVar
COPG1_chr3_129244606_129282773	129247228	G G	GTATATAT others(1): Show GTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01243.hp1 HG01255.hp2 others(6): Show HG01123.hp2 HG01243.hp1 HG01255.hp2 HG02055.hp2 HG02486.hp2 HG02896.hp2 HG03486.hp2 NA18522.hp2 NA18906.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0012 a0001c0006t0002g0028 a0001c0006t0002g0075 others(2): Show a0001c0006t0002g0012 a0001c0006t0002g0028 a0001c0006t0002g0075 a0001c0006t0002g0076 a0001c0006t0002g0077	9	326	0.0276	8	c.-24 others(19): Show c.-2482_-2481insTATATATA	COPG1	ENSG00000181789.14	transcript	ENST00000314797.10	protein_coding		2377		chr3	TogoVar
COPG1_chr3_129244606_129282773	129247228	G G	GTGTGTGT others(1): Show GTGTGTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG02015.hp2 others(18): Show HG00408.hp1 HG00544.hp2 HG02015.hp2 HG02074.hp1 HG02080.hp1 HG02129.hp2 HG02165.hp1 HG02738.hp1 HG03942.hp1 NA18747.hp2 NA18939.hp1 NA18950.hp2 NA18955.hp2 NA18966.hp1 NA18972.hp2 NA18990.hp2 NA19001.hp2 NA19043.hp2 NA19066.hp1 NA19074.hp2 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0001 a0001c0002t0002 a0001c0007t0002 a0001c0002t0001 a0001c0002t0002 a0001c0007t0002	a0001c0002t0001g0070 a0001c0002t0002g0005 a0001c0002t0002g0027 others(10): Show a0001c0002t0001g0070 a0001c0002t0002g0005 a0001c0002t0002g0027 a0001c0002t0002g0056 a0001c0002t0002g0058 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0065 a0001c0002t0002g0071 a0001c0007t0002g0060 a0001c0007t0002g0064 a0001c0007t0002g0066 a0001c0007t0002g0069	21	326	0.0644	8	c.-24 others(19): Show c.-2482_-2481insTGTGTGTA	COPG1	ENSG00000181789.14	transcript	ENST00000314797.10	protein_coding		2377		chr3	TogoVar
COPG2_chr7_130501238_130673748	130523119	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01891.hp2 HG02451.hp2 others(9): Show HG01258.hp1 HG01891.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02717.hp1 HG02735.hp2 HG02970.hp2 HG03195.hp1 HG03491.hp2 NA18522.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0005t0002	a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0008g0318 others(9): Show a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0008g0318 a0001c0001t0008g0321 a0001c0001t0008g0322 a0001c0002t0001g0039 a0001c0002t0001g0049 a0001c0002t0001g0099 a0001c0002t0003g0106 a0001c0002t0005g0076 a0001c0005t0002g0010 a0001c0005t0002g0011	12	326	0.0368	8	c.215 others(29): Show c.2150-14468_2150-14461dupTTTTTTTT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	20/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130557817	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01106.hp2 HG01167.hp1 others(45): Show HG01069.hp1 HG01106.hp2 HG01167.hp1 HG01243.hp1 HG01358.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01943.hp2 HG01952.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp2 HG02145.hp2 HG02280.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02723.hp2 HG02809.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp2 NA18522.hp2 NA18906.hp1 NA18980.hp1 NA19009.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19079.hp2 NA19081.hp2 NA20752.hp1	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0012 a0005c0010 a0008c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0002t0001 a0001c0005t0002 a0001c0012t0002 a0005c0010t0001 a0008c0013t0001	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 others(45): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0002g0026 a0001c0001t0002g0159 a0001c0001t0002g0163 a0001c0001t0002g0171 a0001c0001t0002g0173 a0001c0001t0002g0191 a0001c0001t0002g0194 a0001c0001t0002g0208 a0001c0001t0002g0214 a0001c0001t0002g0234 a0001c0001t0004g0128 a0001c0001t0004g0131 a0001c0001t0006g0149 a0001c0001t0006g0168 a0001c0002t0001g0062 a0001c0005t0002g0010 a0001c0005t0002g0011 a0001c0012t0002g0166 a0005c0010t0001g0147 a0008c0013t0001g0067	48	326	0.1472	8	c.112 others(27): Show c.1129-2693_1129-2686dupTTTTTTTT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	12/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130618100	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00621.hp1 HG00639.hp1 others(20): Show HG00140.hp2 HG00621.hp1 HG00639.hp1 HG01168.hp1 HG01175.hp2 HG01261.hp1 HG01496.hp2 HG01952.hp1 HG02451.hp1 HG02559.hp2 HG02818.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03942.hp1 HG04184.hp2 NA18947.hp2 NA18960.hp1 NA18978.hp2 NA18992.hp2 NA18994.hp1 NA19078.hp1 NA19082.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0009 a0001c0001 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0007c0009t0002	a0001c0001t0001g0030 a0001c0001t0001g0200 a0001c0001t0002g0025 others(20): Show a0001c0001t0001g0030 a0001c0001t0001g0200 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0163 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0184 a0001c0001t0002g0195 a0001c0001t0002g0202 a0001c0001t0002g0208 a0001c0001t0002g0215 a0001c0001t0002g0230 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0006g0172 a0001c0001t0006g0201 a0007c0009t0002g0217	23	326	0.0706	8	c.324 others(25): Show c.324-1043_324-1036dupTTTTTTTT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	5/23			chr7	TogoVar
COPRS_chr17_31846871_31864244	31855501	A A	AAAATAAA others(1): Show AAAATAAAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03453.hp1 HG03540.hp1 HG03098.hp1 HG03453.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0047 a0001c0001t0001g0072 a0001c0001t0001g0074	3	372	0.0081	8	c.166 others(25): Show c.166+1290_166+1297dupATTTATTT	COPRS	ENSG00000172301.11	transcript	ENST00000302362.11	protein_coding	2/3			chr17	TogoVar
COPS3_chr17_17241616_17286246	17255839	A A	AAAATAAA others(1): Show AAAATAAAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00408.hp2 others(159): Show HG00140.hp2 HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00738.hp2 HG00741.hp1 HG01074.hp1 HG01106.hp2 HG01123.hp1 HG01168.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp2 HG02300.hp2 HG02451.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02895.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03130.hp2 HG03139.hp1 HG03225.hp2 HG03486.hp2 HG03490.hp1 HG03540.hp2 HG03654.hp1 HG03704.hp2 HG03831.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18939.hp1 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18961.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp2 NA19043.hp2 NA19058.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 others(121): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0036 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0105 a0001c0001t0001g0212 a0001c0002t0001g0001 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0115 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0122 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0144 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0191 a0001c0002t0001g0193 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0209 a0001c0002t0001g0237 a0001c0003t0001g0190 a0001c0004t0001g0143	162	352	0.4602	8	c.937 others(23): Show c.937-902_937-895dupATTTATTT	COPS3	ENSG00000141030.13	transcript	ENST00000268717.10	protein_coding	8/11			chr17	TogoVar
COPS3_chr17_17241616_17286246	17261526	C C	CTAAATAA others(1): Show CTAAATAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02486.hp1 HG02559.hp2 others(9): Show HG02145.hp2 HG02486.hp1 HG02559.hp2 HG02622.hp1 HG02970.hp2 HG03041.hp2 HG03209.hp1 HG03471.hp1 HG03516.hp1 NA18906.hp2 NA19030.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0038 a0001c0001t0001g0039 others(4): Show a0001c0001t0001g0005 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048	12	352	0.0341	8	c.762 others(23): Show c.762+432_762+439dupTTTATTTA	COPS3	ENSG00000141030.13	transcript	ENST00000268717.10	protein_coding	7/11			chr17	TogoVar
COPS4_chr4_83030183_83080818	83031297	G G	GATATATA others(1): Show GATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG02622.hp1 HG02976.hp1 HG00423.hp2 HG02622.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0254 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0254	3	372	0.0081	8	c.-39 others(19): Show c.-3928_-3927insATATATAT	COPS4	ENSG00000138663.9	transcript	ENST00000264389.7	protein_coding		3885		chr4	TogoVar
COPS4_chr4_83030183_83080818	83034147	C C	CAAAAAAA others(1): Show CAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG01109.hp1 HG02004.hp2 others(24): Show HG00673.hp1 HG01109.hp1 HG02004.hp2 HG02055.hp2 HG02056.hp1 HG02258.hp1 HG02258.hp2 HG02622.hp2 HG02647.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03516.hp1 HG03540.hp2 NA18906.hp2 NA18991.hp1 NA18994.hp2 NA18995.hp2 NA19000.hp2 NA19043.hp1 NA19058.hp2 NA19240.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0035 others(23): Show a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0137 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0182 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0225 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0295	27	372	0.0726	8	c.-10 others(19): Show c.-1078_-1077insAAAAAAAA	COPS4	ENSG00000138663.9	transcript	ENST00000264389.7	protein_coding		1035		chr4	TogoVar
COPS4_chr4_83030183_83080818	83053839	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02055.hp1 HG02572.hp2 others(12): Show HG01109.hp2 HG02055.hp1 HG02572.hp2 HG02630.hp2 HG02647.hp2 HG03209.hp1 HG03486.hp1 HG03490.hp1 HG06807.hp2 NA18951.hp1 NA18977.hp2 NA18986.hp1 NA19068.hp1 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0028 a0001c0001t0001g0050 others(11): Show a0001c0001t0001g0009 a0001c0001t0001g0028 a0001c0001t0001g0050 a0001c0001t0001g0079 a0001c0001t0001g0098 a0001c0001t0001g0121 a0001c0001t0001g0197 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0333	15	372	0.0403	8	c.411 others(25): Show c.411-3081_411-3074dupAAAAAAAA	COPS4	ENSG00000138663.9	transcript	ENST00000264389.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
COPS5_chr8_67038079_67067133	67050558	A A	AGTGTGTG others(1): Show AGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01192.hp2 HG01978.hp1 others(12): Show HG00741.hp1 HG01192.hp2 HG01978.hp1 HG01981.hp2 HG02056.hp2 HG02145.hp2 HG02293.hp1 HG02615.hp2 HG02622.hp1 HG02809.hp2 HG03098.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0025 a0001c0002t0001g0180 a0001c0002t0001g0181 others(11): Show a0001c0002t0001g0025 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0250 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0256	15	292	0.0514	8	c.771 others(23): Show c.771+664_771+671dupACACACAC	COPS5	ENSG00000121022.14	transcript	ENST00000357849.9	protein_coding	6/7			chr8	TogoVar
COPS5_chr8_67038079_67067133	67050614	A A	AGTGTGTG others(1): Show AGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp1 HG03516.hp1 others(2): Show HG02109.hp2 HG02258.hp1 HG03516.hp1 HG03579.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0190 a0001c0002t0002g0251 a0001c0002t0002g0253 others(2): Show a0001c0002t0001g0190 a0001c0002t0002g0251 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0255	5	292	0.0171	8	c.771 others(23): Show c.771+608_771+615dupACACACAC	COPS5	ENSG00000121022.14	transcript	ENST00000357849.9	protein_coding	6/7			chr8	TogoVar
COPS7B_chr2_231781445_231814253	231808798	G G	GGTGTGTG others(1): Show GGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02109.hp1 others(23): Show HG01167.hp2 HG01169.hp2 HG02109.hp1 HG02129.hp2 HG02258.hp1 HG02572.hp2 HG02630.hp2 HG02698.hp2 HG02723.hp1 HG02818.hp1 HG02886.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03579.hp1 HG06807.hp1 NA18942.hp2 NA18971.hp2 NA18988.hp2 NA18999.hp1 NA19005.hp2 NA19010.hp1 NA19087.hp2 NA20300.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0009 a0001c0001t0038 a0001c0001t0006 a0001c0001t0009 a0001c0001t0038	a0001c0001t0006g0004 a0001c0001t0006g0006 a0001c0001t0006g0014 others(18): Show a0001c0001t0006g0004 a0001c0001t0006g0006 a0001c0001t0006g0014 a0001c0001t0006g0017 a0001c0001t0006g0022 a0001c0001t0006g0023 a0001c0001t0006g0060 a0001c0001t0006g0076 a0001c0001t0006g0084 a0001c0001t0006g0090 a0001c0001t0006g0106 a0001c0001t0006g0121 a0001c0001t0006g0152 a0001c0001t0006g0169 a0001c0001t0009g0001 a0001c0001t0009g0006 a0001c0001t0009g0007 a0001c0001t0009g0009 a0001c0001t0009g0102 a0001c0001t0009g0107 a0001c0001t0038g0083	26	348	0.0747	8	c.11 others(19): Show c.1190_*1197dupGTGTGTGT	COPS7B	ENSG00000144524.18	transcript	ENST00000350033.8	protein_coding	7/7	1198	INFO_REALIGN_3_PRIME	chr2	TogoVar
COPZ1_chr12_54320131_54356846	54323622	C C	CTCTCTCT others(1): Show CTCTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00738.hp2 HG01070.hp1 others(7): Show HG00408.hp2 HG00738.hp2 HG01070.hp1 HG01255.hp1 HG01981.hp2 HG03239.hp1 NA18986.hp1 NA18994.hp1 NA19010.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0175 a0001c0001t0002g0002 a0001c0001t0002g0004 others(7): Show a0001c0001t0001g0175 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0042 a0001c0001t0002g0173 a0001c0001t0002g0176 a0001c0001t0002g0196 a0001c0001t0002g0319	10	368	0.0272	8	c.-15 others(19): Show c.-1542_-1541insTCTCTCTT	COPZ1	ENSG00000111481.10	transcript	ENST00000262061.7	protein_coding		1508		chr12	TogoVar
COPZ1_chr12_54320131_54356846	54323622	C C	CTCTTTCT others(1): Show CTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00738.hp1 HG01069.hp2 others(48): Show HG00438.hp1 HG00738.hp1 HG01069.hp2 HG01071.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01255.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01891.hp1 HG01891.hp2 HG02132.hp1 HG02257.hp1 HG02280.hp2 HG02486.hp2 HG02572.hp2 HG02622.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03704.hp1 HG03704.hp2 NA18941.hp2 NA18942.hp1 NA18951.hp1 NA18957.hp2 NA18981.hp1 NA18991.hp2 NA18993.hp2 NA19006.hp1 NA19009.hp1 NA19056.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0002t0003 a0001c0003t0005	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 others(48): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0046 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0106 a0001c0001t0001g0133 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0155 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0257 a0001c0001t0001g0272 a0001c0001t0001g0276 a0001c0001t0001g0283 a0001c0001t0001g0287 a0001c0001t0001g0297 a0001c0001t0001g0301 a0001c0001t0001g0304 a0001c0001t0001g0333 a0001c0001t0002g0228 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0004g0292 a0001c0001t0005g0159 a0001c0001t0006g0047 a0001c0001t0007g0220 a0001c0001t0007g0299 a0001c0001t0008g0097 a0001c0002t0003g0023 a0001c0002t0003g0025 a0001c0002t0003g0026 a0001c0002t0003g0293 a0001c0003t0005g0158	51	368	0.1386	8	c.-15 others(19): Show c.-1542_-1541insTCTTTCTT	COPZ1	ENSG00000111481.10	transcript	ENST00000262061.7	protein_coding		1508		chr12	TogoVar
COPZ1_chr12_54320131_54356846	54339980	C C	CGTGTGTG others(1): Show CGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03669.hp1 NA18906.hp2 HG02109.hp2 HG03669.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0050 a0001c0001t0001g0071 a0001c0001t0009g0134 a0001c0001t0001g0050 a0001c0001t0001g0071 a0001c0001t0009g0134	3	368	0.0082	8	c.19- others(21): Show c.19-534_19-527dupGTGTGTGT	COPZ1	ENSG00000111481.10	transcript	ENST00000262061.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
COPZ1_chr12_54320131_54356846	54355327	A A	AGTGTGTG others(1): Show AGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00738.hp2 others(49): Show HG00323.hp2 HG00408.hp2 HG00738.hp2 HG01255.hp1 HG01256.hp2 HG01346.hp1 HG01358.hp2 HG01943.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp2 HG02293.hp2 HG02559.hp2 HG02622.hp2 HG03239.hp1 HG03831.hp1 HG03927.hp1 HG04115.hp2 HG04184.hp2 NA18939.hp1 NA18942.hp2 NA18945.hp1 NA18950.hp2 NA18952.hp2 NA18956.hp1 NA18960.hp2 NA18963.hp2 NA18965.hp1 NA18971.hp1 NA18977.hp2 NA18986.hp1 NA18988.hp2 NA18992.hp2 NA18994.hp1 NA18997.hp2 NA19004.hp2 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19054.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19085.hp2 NA19088.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0015 others(44): Show a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0062 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0231 a0001c0001t0002g0288 a0001c0001t0002g0312 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0317 a0001c0001t0002g0319 a0001c0001t0011g0191	52	368	0.1413	8	c.48 others(19): Show c.4804_*4805insGTGTGTGT	COPZ1	ENSG00000111481.10	transcript	ENST00000262061.7	protein_coding		3482		chr12	TogoVar
COPZ1_chr12_54320131_54356846	54355353	T T	TGTGTGTG others(1): Show TGTGTGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01123.hp2 HG03579.hp1 HG01070.hp1 HG01123.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0164 a0001c0001t0002g0323 a0001c0001t0002g0004 a0001c0001t0002g0164 a0001c0001t0002g0323	3	368	0.0082	8	c.48 others(19): Show c.4830_*4831insGTGTGTGC	COPZ1	ENSG00000111481.10	transcript	ENST00000262061.7	protein_coding		3508		chr12	TogoVar
COPZ2_chr17_48021167_48042797	48030289	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00741.hp2 others(13): Show HG00323.hp2 HG00408.hp1 HG00741.hp2 HG01169.hp2 HG01175.hp1 HG01433.hp2 HG01496.hp2 HG02486.hp1 HG02738.hp2 HG03654.hp1 HG03654.hp2 HG04184.hp2 HG04204.hp2 NA18942.hp1 NA19011.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0001c0001t0001 a0001c0001t0002 a0002c0002t0002	a0001c0001t0001g0011 a0001c0001t0001g0027 a0001c0001t0001g0064 others(4): Show a0001c0001t0001g0011 a0001c0001t0001g0027 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0002g0056 a0002c0002t0002g0031 a0002c0002t0002g0050	16	396	0.0404	8	c.495 others(25): Show c.495-1121_495-1114dupGTGTGTGT	COPZ2	ENSG00000005243.10	transcript	ENST00000621465.5	protein_coding	6/8			chr17	TogoVar
COQ10A_chr12_56261942_56275966	56266241	C C	CAAATAAA others(1): Show CAAATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp2 HG02451.hp1 HG02622.hp1 others(6): Show HG02148.hp2 HG02451.hp1 HG02622.hp1 HG02965.hp1 HG03130.hp2 NA18522.hp2 NA18906.hp2 NA18957.hp1 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0001 a0001c0001t0001g0009	9	332	0.0271	8	c.-87 others(17): Show c.-878_-877insAAATAAAT	COQ10A	ENSG00000135469.14	transcript	ENST00000308197.10	protein_coding		700		chr12	TogoVar
COQ10B_chr2_197448552_197480310	197452064	T T	TCTTTTTT others(1): Show TCTTTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01109.hp1 HG01175.hp1 others(18): Show HG00642.hp1 HG01109.hp1 HG01175.hp1 HG01361.hp1 HG02109.hp2 HG02602.hp2 HG02622.hp1 HG02976.hp2 HG03098.hp2 NA18522.hp2 NA18947.hp2 NA18972.hp1 NA18977.hp2 NA18988.hp1 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18995.hp2 NA19054.hp2 NA19082.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0026 others(17): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0026 a0001c0001t0001g0235 a0001c0001t0001g0242 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0269 a0001c0001t0001g0279 a0001c0001t0001g0282 a0001c0001t0001g0297 a0001c0001t0001g0328 a0001c0001t0001g0334 a0001c0001t0001g0337 a0001c0001t0001g0340 a0001c0001t0005g0330	21	390	0.0539	8	c.-14 others(19): Show c.-1497_-1496insCTTTTTTC	COQ10B	ENSG00000115520.9	transcript	ENST00000263960.7	protein_coding		1487		chr2	TogoVar
COQ3_chr6_99364401_99399195	99376994	A A	ATGTGTGT others(1): Show ATGTGTGTG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01070.hp2 HG01074.hp1 others(16): Show HG00738.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp2 HG01496.hp2 HG01934.hp1 HG02148.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG03710.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0246 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0271 a0001c0001t0002g0280	19	434	0.0438	8	c.486 others(23): Show c.486+384_486+391dupCACACACA	COQ3	ENSG00000132423.12	transcript	ENST00000254759.8	protein_coding	4/6			chr6	TogoVar
COQ3_chr6_99364401_99399195	99391075	T T	TTTTATTT others(1): Show TTTTATTTA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00673.hp2 others(44): Show HG00280.hp2 HG00408.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG01123.hp2 HG01192.hp2 HG01243.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG02129.hp1 HG02165.hp2 HG02451.hp2 HG02486.hp2 HG02723.hp2 HG02809.hp2 HG03017.hp2 HG03209.hp1 HG03209.hp2 HG03540.hp2 HG03688.hp2 NA18940.hp2 NA18944.hp1 NA18946.hp2 NA18948.hp1 NA18959.hp1 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18982.hp1 NA18983.hp1 NA18992.hp1 NA18998.hp2 NA19007.hp2 NA19010.hp1 NA19043.hp1 NA19058.hp1 NA19066.hp2 NA19076.hp2 NA19086.hp1 NA19087.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0003c0003t0003 a0004c0004t0003	a0001c0001t0001g0051 a0001c0001t0001g0174 a0001c0001t0002g0041 others(39): Show a0001c0001t0001g0051 a0001c0001t0001g0174 a0001c0001t0002g0041 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0348 a0001c0001t0002g0349 a0001c0001t0002g0350 a0001c0001t0002g0351 a0001c0001t0002g0352 a0001c0001t0002g0355 a0001c0001t0002g0356 a0001c0001t0002g0357 a0002c0002t0001g0014 a0002c0002t0001g0042 a0002c0002t0001g0065 a0002c0002t0001g0179 a0002c0002t0001g0196 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0002g0035 a0002c0002t0002g0296 a0002c0002t0002g0297 a0002c0002t0002g0298 a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0002t0002g0347 a0002c0002t0002g0360 a0003c0003t0003g0026 a0003c0003t0003g0027 a0003c0003t0003g0171 a0003c0003t0003g0172 a0003c0003t0003g0173 a0003c0003t0003g0175 a0003c0003t0003g0176 a0003c0003t0003g0177 a0003c0003t0003g0178 a0003c0003t0003g0180 a0003c0003t0003g0241 a0004c0004t0003g0064	47	434	0.1083	8	c.106 others(25): Show c.106+2991_106+2998dupTAAATAAA	COQ3	ENSG00000132423.12	transcript	ENST00000254759.8	protein_coding	1/6			chr6	TogoVar
COQ3_chr6_99364401_99399195	99391090	T T	TATTGATT others(1): Show TATTGATTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01928.hp2 NA18959.hp2 others(2): Show HG00323.hp1 HG01928.hp2 NA18959.hp2 NA18961.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0127 others(2): Show a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0144	5	434	0.0115	8	c.106 others(25): Show c.106+2983_106+2984insCAATCAAT	COQ3	ENSG00000132423.12	transcript	ENST00000254759.8	protein_coding	1/6			chr6	TogoVar
COQ3_chr6_99364401_99399195	99391094	T T	TATTGATT others(1): Show TATTGATTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00733.hp1 HG00741.hp1 others(56): Show HG00639.hp2 HG00733.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01123.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01891.hp2 HG01975.hp2 HG01993.hp1 HG02080.hp1 HG02083.hp2 HG02559.hp2 HG02717.hp2 HG02738.hp2 HG02809.hp1 HG03225.hp2 HG03490.hp2 HG03710.hp1 HG03831.hp2 HG03927.hp2 HG04115.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18747.hp2 NA18939.hp1 NA18943.hp2 NA18945.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18960.hp1 NA18962.hp1 NA18964.hp2 NA18977.hp1 NA18979.hp2 NA18982.hp2 NA18986.hp1 NA18991.hp2 NA19003.hp2 NA19058.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19070.hp1 NA19080.hp2 NA19082.hp1 NA19089.hp2 NA20752.hp2 NA20805.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0008c0009	a0001c0001t0001 a0002c0002t0001 a0003c0003t0003 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0003 a0008c0009t0001	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(50): Show a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0182 a0001c0001t0001g0183 a0002c0002t0001g0018 a0002c0002t0001g0103 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0121 a0002c0002t0001g0140 a0002c0002t0001g0141 a0003c0003t0003g0019 a0003c0003t0003g0077 a0003c0003t0003g0113 a0008c0009t0001g0044	59	434	0.1359	8	c.106 others(25): Show c.106+2979_106+2980insCAATCAAT	COQ3	ENSG00000132423.12	transcript	ENST00000254759.8	protein_coding	1/6			chr6	TogoVar
COQ3_chr6_99364401_99399195	99391098	T T	TATTGATT others(1): Show TATTGATTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01109.hp1 HG01175.hp1 others(26): Show HG00099.hp1 HG01109.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01943.hp1 HG01952.hp1 HG02004.hp1 HG02109.hp1 HG02145.hp1 HG02257.hp2 HG02293.hp1 HG02451.hp1 HG02572.hp1 HG02647.hp1 HG02735.hp1 HG02970.hp2 HG03017.hp1 HG03239.hp1 HG03688.hp1 HG03704.hp2 HG04184.hp2 HG04199.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0017 a0001c0001t0001g0052 a0001c0001t0001g0081 others(25): Show a0001c0001t0001g0017 a0001c0001t0001g0052 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0181 a0002c0002t0001g0082 a0002c0002t0001g0091	29	434	0.0668	8	c.106 others(25): Show c.106+2975_106+2976insCAATCAAT	COQ3	ENSG00000132423.12	transcript	ENST00000254759.8	protein_coding	1/6			chr6	TogoVar
COQ5_chr12_120498279_120534158	120526698	A A	ATTTTTTT others(1): Show ATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00733.hp2 HG00741.hp1 others(9): Show HG00609.hp1 HG00733.hp2 HG00741.hp1 HG01192.hp1 HG01346.hp2 HG01358.hp1 HG01952.hp2 HG03098.hp1 HG03209.hp1 NA18961.hp2 NA18998.hp1 NA20752.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0003 a0006c0010 a0001c0001 a0002c0003 a0006c0010	a0001c0001t0001 a0002c0003t0001 a0006c0010t0001 a0001c0001t0001 a0002c0003t0001 a0006c0010t0001	a0001c0001t0001g0135 a0001c0001t0001g0305 a0002c0003t0001g0010 others(7): Show a0001c0001t0001g0135 a0001c0001t0001g0305 a0002c0003t0001g0010 a0002c0003t0001g0126 a0002c0003t0001g0277 a0002c0003t0001g0291 a0002c0003t0001g0292 a0002c0003t0001g0329 a0002c0003t0001g0332 a0006c0010t0001g0335	12	388	0.0309	8	c.202 others(25): Show c.202+2234_202+2241dupAAAAAAAA	COQ5	ENSG00000110871.15	transcript	ENST00000288532.11	protein_coding	1/6			chr12	TogoVar
COQ5_chr12_120498279_120534158	120527988	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01243.hp2 HG01928.hp1 others(17): Show HG01070.hp1 HG01243.hp2 HG01928.hp1 HG02148.hp1 HG02300.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG03209.hp1 HG03486.hp1 HG03710.hp1 HG04199.hp2 NA18971.hp1 NA18975.hp1 NA18983.hp1 NA19030.hp1 NA19060.hp2 NA19065.hp1 NA19072.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 a0002c0003t0001	a0001c0001t0001g0021 a0001c0001t0001g0115 a0001c0001t0001g0305 others(15): Show a0001c0001t0001g0021 a0001c0001t0001g0115 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0002t0002g0020 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0004g0101 a0002c0003t0001g0307 a0002c0003t0001g0309 a0002c0003t0001g0333	20	388	0.0516	8	c.202 others(23): Show c.202+944_202+951dupTTTTTTTT	COQ5	ENSG00000110871.15	transcript	ENST00000288532.11	protein_coding	1/6			chr12	TogoVar
COQ5_chr12_120498279_120534158	120530583	A A	AAAATAAA others(1): Show AAAATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01952.hp1 HG02129.hp1 others(2): Show HG01070.hp2 HG01952.hp1 HG02129.hp1 HG03704.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0154 a0001c0001t0001g0160 others(2): Show a0001c0001t0001g0149 a0001c0001t0001g0154 a0001c0001t0001g0160 a0001c0001t0001g0170 a0001c0001t0001g0206	5	388	0.0129	8	c.-14 others(19): Show c.-1450_-1443dupATTTATTT	COQ5	ENSG00000110871.15	transcript	ENST00000288532.11	protein_coding		1426		chr12	TogoVar
COQ7_chr16_19062614_19085095	19063672	T T	TTGTGTGT others(1): Show TTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG02818.hp2 NA19240.hp1 others(1): Show HG01074.hp2 HG02818.hp2 NA19240.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0012 a0001c0001 a0002c0002 a0002c0012	a0001c0001t0004 a0002c0002t0013 a0002c0002t0022 others(1): Show a0001c0001t0004 a0002c0002t0013 a0002c0002t0022 a0002c0012t0013	a0001c0001t0004g0008 a0002c0002t0013g0044 a0002c0002t0022g0166 others(1): Show a0001c0001t0004g0008 a0002c0002t0013g0044 a0002c0002t0022g0166 a0002c0012t0013g0167	4	372	0.0108	8	c.-39 others(19): Show c.-3993_-3992insTGTGTGTG	COQ7	ENSG00000167186.11	transcript	ENST00000321998.10	protein_coding		3941		chr16	TogoVar
COQ7_chr16_19062614_19085095	19064345	C C	CTGTGTGT others(1): Show CTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02615.hp2 HG02970.hp1 HG02258.hp1 HG02615.hp2 HG02970.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0020 a0002c0002t0003 a0001c0001t0004 a0001c0001t0020 a0002c0002t0003	a0001c0001t0004g0099 a0001c0001t0020g0101 a0002c0002t0003g0011 a0001c0001t0004g0099 a0001c0001t0020g0101 a0002c0002t0003g0011	3	372	0.0081	8	c.-33 others(19): Show c.-3320_-3319insTGTGTGTG	COQ7	ENSG00000167186.11	transcript	ENST00000321998.10	protein_coding		3268		chr16	TogoVar
COQ7_chr16_19062614_19085095	19064347	C C	CTGTGTGT others(1): Show CTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG01884.hp1 HG02056.hp1 others(20): Show HG00609.hp1 HG01884.hp1 HG02056.hp1 HG02647.hp2 HG02698.hp2 HG02818.hp2 HG02896.hp2 HG03195.hp1 HG03490.hp2 HG03492.hp2 HG04228.hp2 NA18946.hp2 NA18956.hp1 NA18961.hp2 NA18966.hp2 NA18973.hp2 NA18977.hp2 NA19074.hp2 NA19080.hp2 NA19085.hp1 NA19087.hp1 NA20752.hp1 NA20752.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0010 a0001c0001 a0007c0010	a0001c0001t0001 a0001c0001t0004 a0001c0001t0015 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0015 a0007c0010t0004	a0001c0001t0001g0002 a0001c0001t0001g0153 a0001c0001t0001g0161 others(12): Show a0001c0001t0001g0002 a0001c0001t0001g0153 a0001c0001t0001g0161 a0001c0001t0004g0008 a0001c0001t0004g0021 a0001c0001t0004g0088 a0001c0001t0004g0098 a0001c0001t0004g0103 a0001c0001t0004g0106 a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0004g0110 a0001c0001t0004g0111 a0001c0001t0015g0008 a0007c0010t0004g0086	23	372	0.0618	8	c.-33 others(19): Show c.-3318_-3317insTGTGTGTG	COQ7	ENSG00000167186.11	transcript	ENST00000321998.10	protein_coding		3266		chr16	TogoVar
COQ8A_chr1_226935294_226992544	226976422	T T	TCGGGGCT others(1): Show TCGGGGCTG	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18984.hp1 NA18990.hp1 others(2): Show NA18945.hp2 NA18984.hp1 NA18990.hp1 NA18994.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0177 a0001c0001t0001g0178 others(2): Show a0001c0001t0001g0171 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0001g0183	5	412	0.0121	8	c.656 others(25): Show c.656-1008_656-1001dupGGGCTGCG	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
COQ8B_chr19_40686530_40721886	40697875	G G	GAGAGAGG others(1): Show GAGAGAGGC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02486.hp1 NA19043.hp1 HG02074.hp1 HG02486.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0001 a0002c0001t0001 a0001c0003t0001 a0002c0001t0001	a0001c0003t0001g0071 a0001c0003t0001g0209 a0002c0001t0001g0350 a0001c0003t0001g0071 a0001c0003t0001g0209 a0002c0001t0001g0350	3	410	0.0073	8	c.114 others(27): Show c.1144-1822_1144-1821insGCCTCTCT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ9_chr16_57442479_57466270	57455397	T T	TTATATAT others(1): Show TTATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00673.hp2 HG02109.hp1 others(3): Show HG00558.hp1 HG00673.hp2 HG02109.hp1 HG03491.hp1 HG03492.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0046 a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0046	6	404	0.0149	8	c.379 others(25): Show c.379-1094_379-1087dupTATATATA	COQ9	ENSG00000088682.14	transcript	ENST00000262507.11	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
CORIN_chr4_47589001_47843067	47623069	C C	CCTCTCTC others(1): Show CCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00741.hp1 others(15): Show HG00140.hp1 HG00408.hp1 HG00741.hp1 HG01358.hp2 HG02280.hp1 HG02717.hp2 HG02922.hp1 HG02976.hp1 HG03017.hp2 HG03225.hp2 HG03453.hp2 NA18906.hp2 NA18963.hp2 NA18982.hp2 NA19000.hp1 NA19010.hp1 NA19079.hp1 NA19086.hp2	a0001 a0002 a0013 a0001 a0002 a0013	a0001c0001 a0001c0002 a0001c0021 others(2): Show a0001c0001 a0001c0002 a0001c0021 a0002c0008 a0013c0016	a0001c0001t0001 a0001c0002t0001 a0001c0021t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0021t0001 a0002c0008t0001 a0013c0016t0001	a0001c0001t0001g0054 a0001c0001t0001g0090 a0001c0002t0001g0010 others(15): Show a0001c0001t0001g0054 a0001c0001t0001g0090 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0026 a0001c0002t0001g0060 a0001c0002t0001g0077 a0001c0002t0001g0082 a0001c0002t0001g0096 a0001c0002t0001g0112 a0001c0002t0001g0121 a0001c0002t0001g0130 a0001c0002t0001g0151 a0001c0002t0001g0156 a0001c0021t0001g0048 a0002c0008t0001g0221 a0002c0008t0001g0222 a0013c0016t0001g0066	18	264	0.0682	8	c.254 others(25): Show c.2540+494_2540+501dupAGAGAGAG	CORIN	ENSG00000145244.12	transcript	ENST00000273857.9	protein_coding	19/21			chr4	TogoVar

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