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
COPB1_chr11_14452512_14504811	14470899	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG02258.hp1 others(2): Show HG01257.hp1 HG01258.hp2 HG02258.hp1 HG03516.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 others(2): Show a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0217 a0001c0001t0001g0229	5	386	0.0130	-12	c.173 others(31): Show c.1738-1348_1738-1337delGTGTGTGTGTGT	COPB1	ENSG00000129083.13	transcript	ENST00000439561.7	protein_coding	14/21			chr11	TogoVar
COPB1_chr11_14452512_14504811	14470934	ACACACAC others(5): Show ACACACACACACT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 NA20300.hp1 HG02895.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0277 a0001c0001t0001g0257 a0001c0001t0001g0277	2	386	0.0052	-12	c.173 others(31): Show c.1738-1383_1738-1372delAGTGTGTGTGTG	COPB1	ENSG00000129083.13	transcript	ENST00000439561.7	protein_coding	14/21			chr11	TogoVar
COPE_chr19_18894514_18924387	18897301	CCCTTGCC others(5): Show CCCTTGCCCCACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	330	0.0030	-12	c.23 others(23): Show c.2366_*2377delTGTGGGGCAAGG	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding		2212		chr19	TogoVar
COPE_chr19_18894514_18924387	18902772	AGAAGGAA others(5): Show AGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02602.hp1 NA19087.hp1 HG02523.hp1 HG02602.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0079 a0001c0001t0001g0089 a0001c0001t0001g0023 a0001c0001t0001g0079 a0001c0001t0001g0089	3	330	0.0091	-12	c.735 others(27): Show c.735+484_735+495delCTTCCTTCCTTC	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
COPG1_chr3_129244606_129282773	129263034	AAGAGTCC others(5): Show AAGAGTCCTTCTG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG02015.hp2 others(17): Show HG00408.hp1 HG00544.hp2 HG02015.hp2 HG02027.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02129.hp2 HG02165.hp1 HG03669.hp1 HG04228.hp1 NA18747.hp2 NA18950.hp2 NA18955.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	a0001c0002t0001g0067 a0001c0002t0001g0070 a0001c0002t0002g0005 others(9): Show a0001c0002t0001g0067 a0001c0002t0001g0070 a0001c0002t0002g0005 a0001c0002t0002g0027 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0068 a0001c0002t0002g0071 a0001c0002t0002g0074 a0001c0007t0002g0060	20	326	0.0614	-12	c.112 others(29): Show c.1129-869_1129-858delAGAGTCCTTCTG	COPG1	ENSG00000181789.14	transcript	ENST00000314797.10	protein_coding	12/23			chr3	TogoVar
COPG2_chr7_130501238_130673748	130513304	AAAAAATA others(5): Show AAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03209.hp1 HG02055.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0252 a0001c0001t0009g0256 a0001c0001t0009g0252 a0001c0001t0009g0256	2	326	0.0061	-12	c.215 others(31): Show c.2150-4657_2150-4646delATATATATTTTT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	20/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130540046	GGGGATGG others(5): Show GGGGATGGGGTTT	G G	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0076 a0001c0002t0005g0077 a0001c0002t0005g0076 a0001c0002t0005g0077	2	326	0.0061	-12	c.214 others(31): Show c.2149+7616_2149+7627delAAACCCCATCCC	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	20/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130607240	CATAAATA others(5): Show CATAAATAAATAA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01934.hp1 HG02165.hp1 others(3): Show HG00558.hp1 HG01934.hp1 HG02165.hp1 NA18969.hp2 NA18983.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 others(3): Show a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0312 a0001c0001t0001g0326	6	326	0.0184	-12	c.737 others(29): Show c.737+3701_737+3712delTTATTTATTTAT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	9/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130638711	TCAGCCCC others(5): Show TCAGCCCCCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(56): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00558.hp1 HG00639.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01168.hp2 HG01175.hp1 HG01256.hp2 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01934.hp1 HG01943.hp1 HG01978.hp1 HG02055.hp1 HG02109.hp2 HG02129.hp1 HG02155.hp1 HG02165.hp1 HG02258.hp2 HG02683.hp1 HG02698.hp1 HG02922.hp2 HG03041.hp1 HG03139.hp2 HG03453.hp2 HG03471.hp2 HG03540.hp1 HG03579.hp1 HG03688.hp1 HG03704.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18945.hp2 NA18952.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp2 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp2 NA18969.hp2 NA18978.hp1 NA18983.hp2 NA19003.hp1 NA19010.hp2 NA19063.hp1 NA19064.hp1 NA19068.hp1 NA19079.hp1 NA20129.hp2 NA20752.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0004 a0004c0011 a0001c0001 a0003c0004 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0003c0004t0001 a0004c0011t0001	a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 others(56): Show a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0002g0272 a0001c0001t0004g0267 a0001c0001t0004g0293 a0001c0001t0004g0308 a0001c0001t0004g0324 a0001c0001t0010g0001 a0003c0004t0001g0277 a0003c0004t0001g0297 a0004c0011t0001g0280	59	326	0.1810	-12	c.323 others(31): Show c.323+14146_323+14157delGAAAGGGGGCTG	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	5/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130646983	GTATATAT others(5): Show GTATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0222 a0001c0001t0002g0222	1	326	0.0031	-12	c.323 others(29): Show c.323+5874_323+5885delTATATATATATA	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	5/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130651494	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01515.hp2 HG01516.hp2 others(3): Show HG01069.hp1 HG01515.hp2 HG01516.hp2 HG02647.hp1 HG04115.hp2 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 others(3): Show a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0002g0219 a0001c0002t0001g0065 a0001c0002t0001g0079	6	326	0.0184	-12	c.323 others(29): Show c.323+1363_323+1374delAAAAAAAAAAAA	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	5/23			chr7	TogoVar
COPRS_chr17_31846871_31864244	31848576	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02809.hp1 HG03139.hp1 others(2): Show HG02647.hp2 HG02809.hp1 HG03139.hp1 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0046 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0046 a0001c0001t0001g0071 a0001c0001t0001g0078	5	372	0.0134	-12	c.35 others(23): Show c.3551_*3562delTTTTTTTTTTTT	COPRS	ENSG00000172301.11	transcript	ENST00000302362.11	protein_coding		3294		chr17	TogoVar
COPS2_chr15_49117727_49160599	49119203	TACACACA others(5): Show TACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01167.hp2 HG01169.hp1 others(22): Show HG01074.hp2 HG01167.hp2 HG01169.hp1 HG01891.hp2 HG01928.hp1 HG02083.hp2 HG02145.hp1 HG02145.hp2 HG02615.hp2 HG02970.hp2 HG03041.hp1 HG03195.hp2 HG03453.hp1 NA18944.hp2 NA18953.hp2 NA18965.hp2 NA18969.hp1 NA18997.hp1 NA19001.hp1 NA19006.hp1 NA19030.hp1 NA19043.hp1 NA19068.hp2 NA19079.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0013 a0001c0001t0024 others(1): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0024 a0001c0003t0027	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0014 others(14): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0090 a0001c0001t0001g0099 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0013g0097 a0001c0001t0024g0070 a0001c0003t0027g0173	25	398	0.0628	-12	c.87 others(23): Show c.8735_*8746delGTGTGTGTGTGT	COPS2	ENSG00000166200.15	transcript	ENST00000388901.10	protein_coding		3523		chr15	TogoVar
COPS3_chr17_17241616_17286246	17285102	GTTTTTTT others(5): Show GTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02559.hp1 HG02055.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0041 a0001c0001t0003g0042	2	352	0.0057	-12	c.-39 others(23): Show c.-3928_-3917delAAAAAAAAAAAA	COPS3	ENSG00000141030.13	transcript	ENST00000268717.10	protein_coding		3857		chr17	TogoVar
COPS5_chr8_67038079_67067133	67041954	TATACACA others(5): Show TATACACATACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	292	0.0034	-12	c.12 others(23): Show c.1267_*1278delGTGTATGTGTAT	COPS5	ENSG00000121022.14	transcript	ENST00000357849.9	protein_coding		1124		chr8	TogoVar
COPS5_chr8_67038079_67067133	67041968	TACACACA others(5): Show TACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG02622.hp1 HG02717.hp1 others(5): Show HG01261.hp2 HG02622.hp1 HG02717.hp1 HG03098.hp2 HG03471.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0070 a0001c0002t0001g0183 a0001c0002t0001g0191 others(5): Show a0001c0001t0001g0070 a0001c0002t0001g0183 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0002g0242 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0003g0240	8	292	0.0274	-12	c.12 others(23): Show c.1253_*1264delGTGTGTGTGTGT	COPS5	ENSG00000121022.14	transcript	ENST00000357849.9	protein_coding		1110		chr8	TogoVar
COPS5_chr8_67038079_67067133	67056650	AAAATATA others(5): Show AAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02083.hp1 HG02165.hp2 others(1): Show HG02027.hp2 HG02083.hp1 HG02165.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0217 a0001c0001t0001g0007 a0001c0001t0001g0217	4	292	0.0137	-12	c.574 others(25): Show c.574-58_574-47delATATATATATTT	COPS5	ENSG00000121022.14	transcript	ENST00000357849.9	protein_coding	4/7			chr8	TogoVar
COPS5_chr8_67038079_67067133	67056652	AATATATA others(5): Show AATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02074.hp1 HG02257.hp2 HG02040.hp2 HG02074.hp1 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0048 a0001c0001t0001g0219 a0001c0001t0001g0033 a0001c0001t0001g0048 a0001c0001t0001g0219	3	292	0.0103	-12	c.574 others(25): Show c.574-60_574-49delATATATATATAT	COPS5	ENSG00000121022.14	transcript	ENST00000357849.9	protein_coding	4/7			chr8	TogoVar
COPS5_chr8_67038079_67067133	67056700	TATATATA others(5): Show TATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02683.hp2 HG02055.hp1 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0044 a0001c0002t0002g0244 a0001c0001t0001g0044 a0001c0002t0002g0244	2	292	0.0069	-12	c.574 others(26): Show c.574-108_574-97delTTATATATATAT	COPS5	ENSG00000121022.14	transcript	ENST00000357849.9	protein_coding	4/7			chr8	TogoVar
COPS7A_chr12_6719046_6736865	6719240	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG01952.hp2 HG02647.hp1 others(8): Show HG00099.hp1 HG01952.hp2 HG02647.hp1 HG02738.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03130.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0002t0003	a0001c0001t0001g0098 a0001c0001t0002g0003 a0001c0001t0007g0023 others(3): Show a0001c0001t0001g0098 a0001c0001t0002g0003 a0001c0001t0007g0023 a0001c0001t0007g0099 a0001c0002t0003g0042 a0001c0002t0003g0096	11	474	0.0232	-12	c.-49 others(23): Show c.-4982_-4971delAAAAAAAAAAAA	COPS7A	ENSG00000111652.10	transcript	ENST00000543155.6	protein_coding		4805		chr12	TogoVar
COPS8_chr2_237080889_237105474	237100795	GTGTATAT others(5): Show GTGTATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02622.hp1 HG03139.hp2 others(1): Show HG02055.hp1 HG02622.hp1 HG03139.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0019 a0001c0001t0002 a0001c0001t0019	a0001c0001t0002g0026 a0001c0001t0002g0043 a0001c0001t0019g0044 a0001c0001t0002g0026 a0001c0001t0002g0043 a0001c0001t0019g0044	4	348	0.0115	-12	c.30 others(23): Show c.3054_*3065delTGTATATATATA	COPS8	ENSG00000198612.11	transcript	ENST00000354371.7	protein_coding		322		chr2	TogoVar
COPS9_chr2_240125828_240141305	240141220	GGGCAGGG others(5): Show GGGCAGGGCCATT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	442	0.0023	-12	c.-49 others(23): Show c.-4948_-4937delAATGGCCCTGCC	COPS9	ENSG00000172428.11	transcript	ENST00000607357.2	protein_coding		4916		chr2	TogoVar
COPZ1_chr12_54320131_54356846	54323657	TTTCTTTC others(5): Show TTTCTTTCTTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0200 a0001c0001t0002g0200	1	368	0.0027	-12	c.-15 others(23): Show c.-1506_-1495delTTCTTTCTTTCC	COPZ1	ENSG00000111481.10	transcript	ENST00000262061.7	protein_coding		1473		chr12	TogoVar
COPZ1_chr12_54320131_54356846	54323665	TTTCCTTC others(5): Show TTTCCTTCCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00621.hp2 HG01256.hp1 others(4): Show HG00408.hp1 HG00621.hp2 HG01256.hp1 HG01258.hp1 HG01978.hp2 HG03942.hp1 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0202 others(3): Show a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0213 a0001c0001t0001g0223	7	368	0.0190	-12	c.-14 others(23): Show c.-1498_-1487delTTCCTTCCTTCC	COPZ1	ENSG00000111481.10	transcript	ENST00000262061.7	protein_coding		1465		chr12	TogoVar
COPZ1_chr12_54320131_54356846	54326640	GGTGTGTG others(5): Show GGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0055 a0001c0001t0008g0055	1	368	0.0027	-12	c.18+ others(27): Show c.18+1488_18+1499delGTGTGTGTGTGT	COPZ1	ENSG00000111481.10	transcript	ENST00000262061.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
COPZ1_chr12_54320131_54356846	54326961	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03831.hp2 HG04184.hp1 HG03579.hp1 HG03831.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0002g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0002g0323	3	368	0.0082	-12	c.18+ others(27): Show c.18+1806_18+1817delTTTTTTTTTTTT	COPZ1	ENSG00000111481.10	transcript	ENST00000262061.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
COPZ1_chr12_54320131_54356846	54337019	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01361.hp2 NA18991.hp2 others(4): Show HG00423.hp2 HG01361.hp2 NA18991.hp2 NA18993.hp2 NA19012.hp1 NA19062.hp2 NA19077.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0023 a0001c0002t0003g0024 a0001c0002t0003g0025 others(4): Show a0001c0002t0003g0023 a0001c0002t0003g0024 a0001c0002t0003g0025 a0001c0002t0003g0026 a0001c0002t0003g0027 a0001c0002t0003g0028 a0001c0002t0003g0029	7	368	0.0190	-12	c.19- others(27): Show c.19-3514_19-3503delAAAAAAAAAAAA	COPZ1	ENSG00000111481.10	transcript	ENST00000262061.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
COPZ1_chr12_54320131_54356846	54339980	CGTGTGTG others(5): Show CGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	368	0.0027	-12	c.19- others(25): Show c.19-538_19-527delGTGTGTGTGTGT	COPZ1	ENSG00000111481.10	transcript	ENST00000262061.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
COPZ2_chr17_48021167_48042797	48021697	CTTTTTCT others(5): Show CTTTTTCTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	396	0.0025	-12	c.47 others(23): Show c.4719_*4730delAAAAAAGAAAAA	COPZ2	ENSG00000005243.10	transcript	ENST00000621465.5	protein_coding		4469		chr17	TogoVar
COQ10B_chr2_197448552_197480310	197461627	CAGAGAGA others(5): Show CAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA21309.hp2 NA18992.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0194 a0001c0002t0002g0200 a0001c0002t0002g0194 a0001c0002t0002g0200	2	390	0.0051	-12	c.255 others(27): Show c.255-885_255-874delAGAGAGAGAGAG	COQ10B	ENSG00000115520.9	transcript	ENST00000263960.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
COQ10B_chr2_197448552_197480310	197463934	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01074.hp2 others(27): Show HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01175.hp1 HG01192.hp1 HG01496.hp2 HG01943.hp1 HG02083.hp1 HG02132.hp1 HG02155.hp2 HG02300.hp1 HG04184.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18966.hp2 NA18978.hp2 NA18980.hp2 NA18986.hp1 NA18990.hp1 NA18992.hp2 NA18993.hp2 NA18999.hp2 NA19003.hp1 NA19009.hp2 NA19062.hp2 NA19068.hp1 NA19077.hp1 NA19088.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007	a0001c0001t0001g0025 a0001c0001t0001g0204 a0001c0001t0001g0231 others(24): Show a0001c0001t0001g0025 a0001c0001t0001g0204 a0001c0001t0001g0231 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0310 a0001c0002t0002g0002 a0001c0002t0002g0017 a0001c0002t0002g0158 a0001c0002t0002g0168 a0001c0002t0002g0181 a0001c0002t0002g0186 a0001c0002t0002g0187 a0001c0002t0002g0189 a0001c0002t0002g0196 a0001c0002t0002g0200 a0001c0002t0004g0002 a0001c0002t0004g0033 a0001c0002t0004g0160 a0001c0002t0004g0162 a0001c0002t0004g0167 a0001c0002t0004g0188 a0001c0002t0004g0191 a0001c0002t0004g0192 a0001c0002t0004g0203 a0001c0002t0007g0002 a0001c0002t0007g0199	30	390	0.0769	-12	c.447 others(29): Show c.447+1223_447+1234delAAAAAAAAAAAA	COQ10B	ENSG00000115520.9	transcript	ENST00000263960.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
COQ10B_chr2_197448552_197480310	197463954	AAAAAAAA others(5): Show AAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01069.hp2 HG01243.hp1 others(11): Show HG00323.hp2 HG01069.hp2 HG01243.hp1 HG01515.hp2 HG02055.hp1 HG02155.hp1 HG02451.hp2 NA18957.hp2 NA18968.hp1 NA18973.hp1 NA18985.hp1 NA18995.hp1 NA19005.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0002t0004	a0001c0001t0001g0227 a0001c0001t0001g0244 a0001c0001t0003g0035 others(11): Show a0001c0001t0001g0227 a0001c0001t0001g0244 a0001c0001t0003g0035 a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0002t0002g0193 a0001c0002t0002g0195 a0001c0002t0002g0197 a0001c0002t0002g0201 a0001c0002t0004g0071 a0001c0002t0004g0176 a0001c0002t0004g0177	14	390	0.0359	-12	c.447 others(29): Show c.447+1225_447+1236delAAAAAAAAAATA	COQ10B	ENSG00000115520.9	transcript	ENST00000263960.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
COQ10B_chr2_197448552_197480310	197463956	AAAAAAAA others(5): Show AAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0294 a0001c0001t0002g0294	1	390	0.0026	-12	c.447 others(29): Show c.447+1227_447+1238delAAAAAAAATATA	COQ10B	ENSG00000115520.9	transcript	ENST00000263960.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
COQ10B_chr2_197448552_197480310	197463958	AAAAAAAA others(5): Show AAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA18522.hp1 NA18941.hp2 HG02622.hp1 NA18522.hp1 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0003 a0001c0001t0001 a0001c0004t0003	a0001c0001t0001g0333 a0001c0001t0001g0340 a0001c0004t0003g0051 a0001c0001t0001g0333 a0001c0001t0001g0340 a0001c0004t0003g0051	3	390	0.0077	-12	c.447 others(29): Show c.447+1229_447+1240delAAAAAATATATA	COQ10B	ENSG00000115520.9	transcript	ENST00000263960.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
COQ10B_chr2_197448552_197480310	197463960	AAAAAATA others(5): Show AAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0327 a0001c0001t0001g0327	1	390	0.0026	-12	c.447 others(29): Show c.447+1231_447+1242delAAAATATATATA	COQ10B	ENSG00000115520.9	transcript	ENST00000263960.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
COQ10B_chr2_197448552_197480310	197463962	AAAATATA others(5): Show AAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0301 a0001c0001t0001g0301	1	390	0.0026	-12	c.447 others(29): Show c.447+1233_447+1244delAATATATATATA	COQ10B	ENSG00000115520.9	transcript	ENST00000263960.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
COQ10B_chr2_197448552_197480310	197464080	CATATATA others(5): Show CATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0342 a0001c0001t0001g0342	1	390	0.0026	-12	c.447 others(29): Show c.447+1351_447+1362delTATATATATATA	COQ10B	ENSG00000115520.9	transcript	ENST00000263960.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
COQ10B_chr2_197448552_197480310	197468867	AAAAAATA others(5): Show AAAAAATAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03041.hp2 HG02630.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0318 a0001c0001t0003g0320 a0001c0001t0003g0318 a0001c0001t0003g0320	2	390	0.0051	-12	c.448 others(29): Show c.448-1186_448-1175delATAAAAATAAAA	COQ10B	ENSG00000115520.9	transcript	ENST00000263960.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
COQ10B_chr2_197448552_197480310	197473415	AATATATA others(5): Show AATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	390	0.0026	-12	c.550 others(27): Show c.550-326_550-315delTATATATATATA	COQ10B	ENSG00000115520.9	transcript	ENST00000263960.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
COQ2_chr4_83258824_83289798	83277973	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(77): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00597.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01261.hp1 HG01496.hp2 HG01516.hp2 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp2 HG02615.hp1 HG02698.hp2 HG02738.hp2 HG02818.hp1 HG03225.hp1 HG03239.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03831.hp1 HG03834.hp2 HG04204.hp2 NA18944.hp2 NA18945.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18955.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18967.hp2 NA18973.hp1 NA18986.hp2 NA18990.hp2 NA18997.hp1 NA18999.hp2 NA19001.hp2 NA19007.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp2 NA19067.hp1 NA19068.hp2 NA19074.hp2 NA19076.hp1 NA19082.hp1 NA19086.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20805.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0007	a0001c0001 a0001c0006 a0001c0009 others(7): Show a0001c0001 a0001c0006 a0001c0009 a0002c0002 a0002c0003 a0002c0004 a0003c0005 a0004c0011 a0005c0016 a0007c0012	a0001c0001t0001 a0001c0006t0001 a0001c0009t0001 others(7): Show a0001c0001t0001 a0001c0006t0001 a0001c0009t0001 a0002c0002t0001 a0002c0003t0001 a0002c0004t0001 a0003c0005t0001 a0004c0011t0005 a0005c0016t0001 a0007c0012t0001	a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0042 others(43): Show a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0006t0001g0122 a0001c0006t0001g0123 a0001c0009t0001g0121 a0002c0002t0001g0002 a0002c0002t0001g0007 a0002c0002t0001g0011 a0002c0002t0001g0014 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0003t0001g0010 a0002c0003t0001g0022 a0002c0003t0001g0053 a0002c0003t0001g0056 a0002c0003t0001g0057 a0002c0003t0001g0069 a0002c0003t0001g0092 a0002c0004t0001g0061 a0002c0004t0001g0076 a0002c0004t0001g0077 a0003c0005t0001g0192 a0004c0011t0005g0048 a0005c0016t0001g0185 a0007c0012t0001g0049	80	344	0.2326	-12	c.420 others(27): Show c.420+963_420+974delGTGTGTGTGTGT	COQ2	ENSG00000173085.15	transcript	ENST00000647002.2	protein_coding	2/6			chr4	TogoVar
COQ3_chr6_99364401_99399195	99378105	CATATATA others(5): Show CATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01081.hp1 HG01106.hp1 others(20): Show HG00642.hp2 HG01081.hp1 HG01106.hp1 HG01346.hp1 HG02148.hp2 HG02300.hp2 HG02486.hp1 HG02622.hp1 HG02717.hp1 HG03041.hp2 HG03130.hp1 HG03491.hp1 HG03492.hp2 HG03579.hp2 HG03834.hp2 HG04184.hp1 HG04184.hp2 NA18962.hp2 NA19009.hp2 NA19030.hp1 NA19087.hp2 NA20129.hp2 NA20300.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0004 a0001c0001 a0003c0003 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0003c0003t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0003c0003t0003 a0003c0003t0004 a0004c0004t0003	a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0046 others(12): Show a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0083 a0001c0001t0001g0253 a0001c0001t0002g0003 a0001c0001t0002g0314 a0001c0001t0002g0339 a0003c0003t0003g0241 a0003c0003t0004g0279 a0004c0004t0003g0189 a0004c0004t0003g0259	23	434	0.0530	-12	c.387 others(27): Show c.387-632_387-621delATATATATATAT	COQ3	ENSG00000132423.12	transcript	ENST00000254759.8	protein_coding	3/6			chr6	TogoVar
COQ3_chr6_99364401_99399195	99378149	TATATATA others(5): Show TATATATATTTAG	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0292 a0002c0002t0002g0292	1	434	0.0023	-12	c.387 others(27): Show c.387-676_387-665delCTAAATATATAT	COQ3	ENSG00000132423.12	transcript	ENST00000254759.8	protein_coding	3/6			chr6	TogoVar
COQ3_chr6_99364401_99399195	99378155	TATTTAGA others(5): Show TATTTAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	434	0.0023	-12	c.387 others(27): Show c.387-682_387-671delCTCTCTCTAAAT	COQ3	ENSG00000132423.12	transcript	ENST00000254759.8	protein_coding	3/6			chr6	TogoVar
COQ3_chr6_99364401_99399195	99385987	AAAAAAAG others(5): Show AAAAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0062 a0002c0002t0001g0062	1	434	0.0023	-12	c.107 others(29): Show c.107-2175_107-2164delCTTTTCTTTTTT	COQ3	ENSG00000132423.12	transcript	ENST00000254759.8	protein_coding	1/6			chr6	TogoVar
COQ3_chr6_99364401_99399195	99388891	GCACACAC others(5): Show GCACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01891.hp1 HG02922.hp1 others(2): Show HG01099.hp2 HG01891.hp1 HG02922.hp1 HG03041.hp2 NA19010.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0002c0002t0001 a0004c0004t0003 a0001c0001t0001 a0002c0002t0001 a0004c0004t0003	a0001c0001t0001g0191 a0002c0002t0001g0196 a0004c0004t0003g0258 others(2): Show a0001c0001t0001g0191 a0002c0002t0001g0196 a0004c0004t0003g0258 a0004c0004t0003g0259 a0004c0004t0003g0260	5	434	0.0115	-12	c.107 others(29): Show c.107-5079_107-5068delTGTGTGTGTGTG	COQ3	ENSG00000132423.12	transcript	ENST00000254759.8	protein_coding	1/6			chr6	TogoVar
COQ3_chr6_99364401_99399195	99388923	ACACACAC others(5): Show ACACACACACACC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp2 HG00609.hp1 others(29): Show HG00140.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp2 HG01123.hp2 HG01361.hp1 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG02071.hp2 HG02074.hp2 NA18940.hp2 NA18944.hp1 NA18946.hp2 NA18948.hp1 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18967.hp1 NA18974.hp1 NA18975.hp2 NA18980.hp1 NA18984.hp1 NA18987.hp1 NA19003.hp1 NA19006.hp1 NA19010.hp2 NA19078.hp2 NA19081.hp2 NA19086.hp1 NA19091.hp1 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0003 a0001c0001t0001 a0002c0002t0001 a0003c0003t0003	a0001c0001t0001g0051 a0001c0001t0001g0160 a0001c0001t0001g0161 others(24): Show a0001c0001t0001g0051 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0174 a0001c0001t0001g0184 a0002c0002t0001g0179 a0003c0003t0003g0006 a0003c0003t0003g0024 a0003c0003t0003g0026 a0003c0003t0003g0150 a0003c0003t0003g0151 a0003c0003t0003g0154 a0003c0003t0003g0157 a0003c0003t0003g0158 a0003c0003t0003g0159 a0003c0003t0003g0162 a0003c0003t0003g0163 a0003c0003t0003g0164 a0003c0003t0003g0165 a0003c0003t0003g0166 a0003c0003t0003g0171 a0003c0003t0003g0172 a0003c0003t0003g0173 a0003c0003t0003g0175 a0003c0003t0003g0176 a0003c0003t0003g0177 a0003c0003t0003g0178	32	434	0.0737	-12	c.107 others(29): Show c.107-5111_107-5100delGGTGTGTGTGTG	COQ3	ENSG00000132423.12	transcript	ENST00000254759.8	protein_coding	1/6			chr6	TogoVar
COQ3_chr6_99364401_99399195	99391075	TTTTATTT others(5): Show TTTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp1 HG00738.hp1 others(32): Show HG00280.hp1 HG00642.hp1 HG00738.hp1 HG01070.hp2 HG01081.hp2 HG01099.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp2 HG01934.hp1 HG02055.hp2 HG02109.hp2 HG02148.hp1 HG02258.hp2 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG02615.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG03041.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03579.hp1 HG03710.hp2 HG06807.hp1 NA20752.hp1 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0005	a0001c0001t0001 a0002c0002t0001 a0003c0003t0003 others(2): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0003 a0004c0004t0003 a0005c0005t0003	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 others(20): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0269 a0001c0001t0001g0271 a0002c0002t0001g0254 a0003c0003t0003g0251 a0003c0003t0003g0266 a0003c0003t0003g0267 a0003c0003t0003g0268 a0003c0003t0003g0270 a0004c0004t0003g0258 a0004c0004t0003g0259 a0004c0004t0003g0260 a0005c0005t0003g0045 a0005c0005t0003g0255 a0005c0005t0003g0256 a0005c0005t0003g0257	35	434	0.0807	-12	c.106 others(29): Show c.106+2987_106+2998delTAAATAAATAAA	COQ3	ENSG00000132423.12	transcript	ENST00000254759.8	protein_coding	1/6			chr6	TogoVar
COQ5_chr12_120498279_120534158	120527988	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0048 a0001c0002t0002g0048	1	388	0.0026	-12	c.202 others(27): Show c.202+940_202+951delTTTTTTTTTTTT	COQ5	ENSG00000110871.15	transcript	ENST00000288532.11	protein_coding	1/6			chr12	TogoVar
COQ5_chr12_120498279_120534158	120530583	AAAATAAA others(5): Show AAAATAAATAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00438.hp2 others(106): Show HG00280.hp2 HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00621.hp2 HG00642.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01175.hp2 HG01243.hp1 HG01256.hp2 HG01258.hp2 HG01361.hp2 HG01928.hp1 HG01934.hp2 HG01993.hp2 HG02027.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02523.hp1 HG02602.hp1 HG02683.hp2 HG02735.hp1 HG02976.hp1 HG03017.hp1 HG03195.hp2 HG03490.hp1 HG03491.hp1 HG03516.hp1 HG03669.hp2 HG03710.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18939.hp2 NA18942.hp1 NA18943.hp2 NA18946.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18989.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp2 NA18998.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp2 NA19065.hp1 NA19066.hp2 NA19072.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA21309.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0002 a0001c0007 a0003c0005 others(1): Show a0001c0002 a0001c0007 a0003c0005 a0004c0006	a0001c0002t0002 a0001c0002t0004 a0001c0007t0002 others(2): Show a0001c0002t0002 a0001c0002t0004 a0001c0007t0002 a0003c0005t0002 a0004c0006t0002	a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0005 others(86): Show a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0011 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0004g0082 a0001c0002t0004g0101 a0001c0007t0002g0092 a0003c0005t0002g0039 a0003c0005t0002g0040 a0004c0006t0002g0053	109	388	0.2809	-12	c.-14 others(23): Show c.-1454_-1443delATTTATTTATTT	COQ5	ENSG00000110871.15	transcript	ENST00000288532.11	protein_coding		1426		chr12	TogoVar
COQ8A_chr1_226935294_226992544	226944738	AGAGAGAG others(5): Show AGAGAGAGAGAGT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG00735.hp2 others(5): Show HG00140.hp2 HG00642.hp1 HG00735.hp2 HG01496.hp2 HG02559.hp1 HG03831.hp1 HG04184.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0003t0003 a0001c0006t0003 a0001c0001t0001 a0001c0003t0003 a0001c0006t0003	a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0201 others(5): Show a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0003t0003g0062 a0001c0003t0003g0320 a0001c0006t0003g0321	8	412	0.0194	-12	c.-10 others(29): Show c.-10+4351_-10+4362delTGAGAGAGAGAG	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar

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