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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
COL6A6_chr3_130512177_130682042	130590297	ATATTTTT others(7): Show ATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0016 a0016	a0016c0020 a0016c0020	a0016c0020t0001 a0016c0020t0001	a0016c0020t0001g0144 a0016c0020t0001g0144	1	264	0.0038	-14	c.421 others(31): Show c.4219-742_4219-729delATTTTTTTTTTTTT	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	12/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130637082	TTCTCTCC others(7): Show TTCTCTCCCTCCCCC	T T	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0005 a0005	a0005c0003 a0005c0003	a0005c0003t0006 a0005c0003t0006	a0005c0003t0006g0051 a0005c0003t0006g0051	1	264	0.0038	-14	c.509 others(33): Show c.5091+1338_5091+1351delTCTCCCTCCCCCTC	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	28/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99658115	AAAAAAAC others(7): Show AAAAAAACAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02630.hp2 HG03209.hp1 others(3): Show HG02109.hp1 HG02630.hp2 HG03209.hp1 HG03471.hp1 HG03516.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0002t0010 a0001c0001t0014 a0001c0002t0010	a0001c0001t0014g0005 a0001c0001t0014g0205 a0001c0002t0010g0039 others(3): Show a0001c0001t0014g0005 a0001c0001t0014g0205 a0001c0002t0010g0039 a0001c0002t0010g0040 a0001c0002t0010g0041 a0001c0002t0010g0042	6	262	0.0229	-14	c.-12 others(35): Show c.-129+19458_-129+19471delCAAAAAACAAAAAA	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A2_chr1_36090239_36130222	36090679	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0013 a0001c0018t0013	a0001c0018t0013g0275 a0001c0018t0013g0275	1	390	0.0026	-14	c.68 others(25): Show c.6876_*6889delTTTTTTTTTTTTTT	COL8A2	ENSG00000171812.13	transcript	ENST00000397799.2	protein_coding		4559		chr1	TogoVar
COL9A1_chr6_70211126_70308084	70293631	TCACACAC others(7): Show TCACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0015 a0015	a0015c0032 a0015c0032	a0015c0032t0013 a0015c0032t0013	a0015c0032t0013g0341 a0015c0032t0013g0341	1	362	0.0028	-14	c.696 others(29): Show c.696+522_696+535delTGTGTGTGTGTGTG	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	5/37			chr6	TogoVar
COLEC10_chr8_119062247_119113455	119069629	AATATATA others(7): Show AATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02257.hp1 HG02809.hp1 others(3): Show HG01167.hp1 HG02257.hp1 HG02809.hp1 HG02976.hp1 NA18522.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0004 a0001c0001t0007 a0001c0002t0004	a0001c0001t0007g0229 a0001c0002t0004g0230 a0001c0002t0004g0231 others(3): Show a0001c0001t0007g0229 a0001c0002t0004g0230 a0001c0002t0004g0231 a0001c0002t0004g0232 a0001c0002t0004g0233 a0001c0002t0004g0236	6	388	0.0155	-14	c.148 others(31): Show c.148+2219_148+2232delATATATATATATAT	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC10_chr8_119062247_119113455	119078990	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01943.hp1 others(14): Show HG01256.hp2 HG01258.hp1 HG01943.hp1 HG02145.hp1 HG02258.hp1 HG02615.hp2 HG02622.hp2 HG02698.hp1 HG02922.hp2 HG02976.hp2 HG03139.hp2 HG03195.hp1 HG03540.hp2 HG03710.hp1 NA18957.hp1 NA19056.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0005 a0001c0001t0007	a0001c0001t0005g0008 a0001c0001t0005g0192 a0001c0001t0005g0193 others(12): Show a0001c0001t0005g0008 a0001c0001t0005g0192 a0001c0001t0005g0193 a0001c0001t0005g0195 a0001c0001t0005g0196 a0001c0001t0005g0197 a0001c0001t0005g0198 a0001c0001t0005g0199 a0001c0001t0005g0341 a0001c0001t0005g0370 a0001c0001t0007g0010 a0001c0001t0007g0201 a0001c0001t0007g0217 a0001c0001t0007g0218 a0001c0001t0007g0234	17	388	0.0438	-14	c.149 others(33): Show c.149-10649_149-10636delACACACACACACAC	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC10_chr8_119062247_119113455	119091597	GAAAGAAA others(7): Show GAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01123.hp2 HG01256.hp1 others(25): Show HG01099.hp2 HG01123.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01943.hp1 HG02145.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02698.hp1 HG02896.hp2 HG02897.hp2 HG03195.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp2 HG03710.hp1 HG03834.hp2 HG03927.hp1 HG04184.hp2 NA18957.hp1 NA19030.hp2 NA19056.hp2 NA19081.hp1 NA19083.hp2 NA20752.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 others(3): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0019	a0001c0001t0005g0008 a0001c0001t0005g0192 a0001c0001t0005g0193 others(24): Show a0001c0001t0005g0008 a0001c0001t0005g0192 a0001c0001t0005g0193 a0001c0001t0005g0194 a0001c0001t0005g0195 a0001c0001t0005g0196 a0001c0001t0005g0197 a0001c0001t0005g0198 a0001c0001t0005g0199 a0001c0001t0005g0203 a0001c0001t0005g0207 a0001c0001t0005g0208 a0001c0001t0005g0209 a0001c0001t0005g0212 a0001c0001t0005g0219 a0001c0001t0005g0223 a0001c0001t0005g0225 a0001c0001t0005g0228 a0001c0001t0005g0235 a0001c0001t0005g0341 a0001c0001t0005g0370 a0001c0001t0007g0218 a0001c0001t0009g0037 a0001c0001t0009g0038 a0001c0001t0010g0324 a0001c0001t0012g0221 a0001c0001t0019g0073	28	388	0.0722	-14	c.292 others(29): Show c.292+379_292+392delAAGAAAGAAAGAAA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC11_chr2_3590112_3649644	3592265	CGGGGACG others(7): Show CGGGGACGGGGACGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0174 a0001c0001t0004g0174	1	378	0.0027	-14	c.-29 others(25): Show c.-2929_-2916delGGGGACGGGGACGG	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding		2846		chr2	TogoVar
COLEC11_chr2_3590112_3649644	3592282	ACGGGGAC others(7): Show ACGGGGACGGGGACG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0318 a0002c0002t0001g0318	1	378	0.0027	-14	c.-29 others(25): Show c.-2912_-2899delCGGGGACGGGGACG	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding		2829		chr2	TogoVar
COLEC11_chr2_3590112_3649644	3609352	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0036 a0002c0002t0001g0036	1	378	0.0027	-14	c.131 others(31): Show c.131-3938_131-3925delTTTTTTTTTTTTTT	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
COLEC11_chr2_3590112_3649644	3631183	ATTGCACT others(7): Show ATTGCACTACTGCAC	A A	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	378	0.0027	-14	c.203 others(31): Show c.203-6348_203-6335delTGCACTACTGCACT	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
COLEC12_chr18_311737_505701	315232	TCACACAC others(7): Show TCACACACACACACA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01515.hp2 HG02257.hp2 others(8): Show HG01099.hp1 HG01515.hp2 HG02257.hp2 HG02572.hp1 HG02602.hp2 HG02735.hp1 HG03098.hp1 HG03831.hp1 NA20300.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0012	a0001c0003 a0001c0004 a0002c0001 others(4): Show a0001c0003 a0001c0004 a0002c0001 a0002c0007 a0003c0010 a0004c0006 a0012c0024	a0001c0003t0093 a0001c0004t0051 a0001c0004t0155 others(8): Show a0001c0003t0093 a0001c0004t0051 a0001c0004t0155 a0002c0001t0045 a0002c0001t0095 a0002c0001t0101 a0002c0001t0249 a0002c0007t0045 a0003c0010t0091 a0004c0006t0202 a0012c0024t0114	a0001c0003t0093g0306 a0001c0004t0051g0006 a0001c0004t0155g0135 others(8): Show a0001c0003t0093g0306 a0001c0004t0051g0006 a0001c0004t0155g0135 a0002c0001t0045g0038 a0002c0001t0095g0204 a0002c0001t0101g0079 a0002c0001t0249g0361 a0002c0007t0045g0238 a0003c0010t0091g0092 a0004c0006t0202g0342 a0012c0024t0114g0151	11	366	0.0301	-14	c.47 others(25): Show c.4799_*4812delTGTGTGTGTGTGTG	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding		1504		chr18	TogoVar
COLEC12_chr18_311737_505701	319333	AAAAAAAA others(7): Show AAAAAAAAAATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0194 a0003c0002t0194	a0003c0002t0194g0331 a0003c0002t0194g0331	1	366	0.0027	-14	c.69 others(23): Show c.698_*711delATATATTTTTTTTT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	10/10	698		chr18	TogoVar
COLEC12_chr18_311737_505701	319740	GATTGGAG others(7): Show GATTGGAGTGTTCCA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02486.hp2 HG03579.hp1 HG02486.hp2 HG03579.hp1	a0001 a0003 a0001 a0003	a0001c0005 a0003c0002 a0001c0005 a0003c0002	a0001c0005t0247 a0003c0002t0246 a0001c0005t0247 a0003c0002t0246	a0001c0005t0247g0355 a0003c0002t0246g0359 a0001c0005t0247g0355 a0003c0002t0246g0359	2	366	0.0055	-14	c.29 others(23): Show c.291_*304delTGGAACACTCCAAT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	10/10	291		chr18	TogoVar
COLEC12_chr18_311737_505701	390293	CTCCTTCG others(7): Show CTCCTTCGAGCTATT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00642.hp1 HG00738.hp2 others(47): Show HG00408.hp1 HG00642.hp1 HG00738.hp2 HG01074.hp2 HG01081.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp2 HG01256.hp2 HG01258.hp1 HG01346.hp2 HG01361.hp1 HG01934.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02015.hp2 HG02083.hp2 HG02273.hp1 HG02280.hp2 HG02300.hp1 HG02602.hp1 HG02602.hp2 HG02683.hp1 HG03017.hp1 HG03490.hp2 HG03654.hp2 HG04228.hp2 NA18957.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18982.hp1 NA18985.hp1 NA18989.hp1 NA18994.hp1 NA19002.hp1 NA19003.hp1 NA19005.hp2 NA19006.hp2 NA19057.hp2 NA19064.hp1 NA19082.hp1 NA19088.hp2 NA19091.hp2 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0003 a0001c0004 a0002c0001 others(4): Show a0001c0003 a0001c0004 a0002c0001 a0002c0012 a0003c0002 a0003c0010 a0005c0014	a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 others(39): Show a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0006 a0001c0003t0013 a0001c0003t0016 a0001c0003t0018 a0001c0003t0038 a0001c0003t0056 a0001c0003t0057 a0001c0003t0058 a0001c0003t0060 a0001c0003t0154 a0001c0003t0166 a0001c0003t0189 a0001c0004t0024 a0001c0004t0039 a0002c0001t0001 a0002c0001t0003 a0002c0001t0023 a0002c0001t0037 a0002c0001t0104 a0002c0001t0125 a0002c0001t0141 a0002c0001t0159 a0002c0001t0161 a0002c0001t0171 a0002c0001t0214 a0002c0001t0224 a0002c0012t0179 a0003c0002t0007 a0003c0002t0010 a0003c0002t0011 a0003c0002t0014 a0003c0002t0110 a0003c0002t0111 a0003c0002t0122 a0003c0002t0135 a0003c0002t0138 a0003c0010t0091 a0005c0014t0034	a0001c0003t0002g0198 a0001c0003t0002g0199 a0001c0003t0003g0352 others(46): Show a0001c0003t0002g0198 a0001c0003t0002g0199 a0001c0003t0003g0352 a0001c0003t0004g0266 a0001c0003t0005g0044 a0001c0003t0005g0153 a0001c0003t0005g0329 a0001c0003t0006g0018 a0001c0003t0013g0002 a0001c0003t0016g0047 a0001c0003t0016g0328 a0001c0003t0018g0100 a0001c0003t0038g0016 a0001c0003t0056g0174 a0001c0003t0057g0037 a0001c0003t0058g0089 a0001c0003t0060g0162 a0001c0003t0154g0171 a0001c0003t0166g0046 a0001c0003t0189g0190 a0001c0004t0024g0017 a0001c0004t0039g0322 a0002c0001t0001g0272 a0002c0001t0001g0290 a0002c0001t0003g0136 a0002c0001t0003g0255 a0002c0001t0023g0268 a0002c0001t0037g0081 a0002c0001t0104g0220 a0002c0001t0125g0299 a0002c0001t0141g0178 a0002c0001t0159g0195 a0002c0001t0161g0286 a0002c0001t0171g0064 a0002c0001t0214g0213 a0002c0001t0224g0158 a0002c0012t0179g0327 a0003c0002t0007g0182 a0003c0002t0010g0043 a0003c0002t0011g0032 a0003c0002t0011g0291 a0003c0002t0014g0205 a0003c0002t0110g0084 a0003c0002t0111g0297 a0003c0002t0122g0252 a0003c0002t0135g0098 a0003c0002t0138g0068 a0003c0010t0091g0092 a0005c0014t0034g0025	50	366	0.1366	-14	c.59- others(31): Show c.59-32785_59-32772delAATAGCTCGAAGGA	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	2/9			chr18	TogoVar
COLEC12_chr18_311737_505701	442002	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0173 a0002c0001t0173	a0002c0001t0173g0022 a0002c0001t0173g0022	1	366	0.0027	-14	c.58+ others(31): Show c.58+38691_58+38704delGTGTGTGTGTGTGT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	2/9			chr18	TogoVar
COLEC12_chr18_311737_505701	497383	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG00558.hp1 others(80): Show HG00140.hp2 HG00438.hp1 HG00558.hp1 HG00673.hp2 HG01081.hp1 HG01106.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01256.hp1 HG01261.hp1 HG01361.hp2 HG01884.hp1 HG01891.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02055.hp2 HG02074.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02155.hp2 HG02257.hp2 HG02300.hp2 HG02486.hp1 HG02572.hp1 HG02602.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02735.hp2 HG02738.hp2 HG02886.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03490.hp1 HG03491.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG04199.hp2 NA18522.hp1 NA18906.hp2 NA18946.hp1 NA18948.hp1 NA18954.hp2 NA18966.hp2 NA18968.hp2 NA18970.hp2 NA18975.hp2 NA18979.hp1 NA18982.hp1 NA18986.hp2 NA18989.hp2 NA19002.hp1 NA19003.hp2 NA19005.hp2 NA19006.hp1 NA19030.hp2 NA19066.hp1 NA19070.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0011	a0001c0003 a0001c0004 a0001c0005 others(7): Show a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0002c0001 a0002c0007 a0003c0002 a0003c0013 a0004c0006 a0011c0025	a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 others(65): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0006 a0001c0003t0009 a0001c0003t0012 a0001c0003t0027 a0001c0003t0042 a0001c0003t0050 a0001c0003t0061 a0001c0003t0063 a0001c0003t0076 a0001c0003t0093 a0001c0003t0133 a0001c0003t0151 a0001c0003t0163 a0001c0003t0256 a0001c0004t0036 a0001c0004t0037 a0001c0004t0052 a0001c0004t0097 a0001c0004t0168 a0001c0004t0227 a0001c0004t0243 a0001c0005t0029 a0001c0005t0077 a0001c0005t0197 a0001c0005t0248 a0001c0005t0255 a0001c0008t0146 a0002c0001t0001 a0002c0001t0003 a0002c0001t0008 a0002c0001t0019 a0002c0001t0020 a0002c0001t0023 a0002c0001t0037 a0002c0001t0101 a0002c0001t0123 a0002c0001t0125 a0002c0001t0136 a0002c0001t0137 a0002c0001t0149 a0002c0001t0161 a0002c0001t0181 a0002c0001t0182 a0002c0001t0184 a0002c0001t0198 a0002c0001t0216 a0002c0007t0230 a0003c0002t0010 a0003c0002t0011 a0003c0002t0032 a0003c0002t0033 a0003c0002t0041 a0003c0002t0053 a0003c0002t0111 a0003c0002t0122 a0003c0002t0129 a0003c0002t0158 a0003c0002t0194 a0003c0002t0200 a0003c0002t0204 a0003c0013t0190 a0004c0006t0185 a0004c0006t0202 a0004c0006t0207 a0011c0025t0228	a0001c0003t0001g0302 a0001c0003t0002g0254 a0001c0003t0004g0266 others(80): Show a0001c0003t0001g0302 a0001c0003t0002g0254 a0001c0003t0004g0266 a0001c0003t0004g0278 a0001c0003t0004g0279 a0001c0003t0004g0294 a0001c0003t0006g0277 a0001c0003t0009g0344 a0001c0003t0012g0284 a0001c0003t0027g0265 a0001c0003t0042g0343 a0001c0003t0050g0004 a0001c0003t0061g0292 a0001c0003t0063g0295 a0001c0003t0076g0301 a0001c0003t0093g0306 a0001c0003t0133g0256 a0001c0003t0151g0289 a0001c0003t0163g0281 a0001c0003t0256g0356 a0001c0004t0036g0271 a0001c0004t0036g0315 a0001c0004t0037g0314 a0001c0004t0052g0005 a0001c0004t0097g0080 a0001c0004t0168g0257 a0001c0004t0227g0288 a0001c0004t0243g0275 a0001c0005t0029g0287 a0001c0005t0029g0316 a0001c0005t0077g0304 a0001c0005t0197g0009 a0001c0005t0248g0357 a0001c0005t0255g0358 a0001c0008t0146g0317 a0002c0001t0001g0267 a0002c0001t0001g0272 a0002c0001t0001g0273 a0002c0001t0001g0280 a0002c0001t0001g0290 a0002c0001t0003g0253 a0002c0001t0003g0255 a0002c0001t0003g0274 a0002c0001t0008g0298 a0002c0001t0019g0008 a0002c0001t0019g0308 a0002c0001t0020g0311 a0002c0001t0023g0268 a0002c0001t0037g0081 a0002c0001t0101g0079 a0002c0001t0123g0296 a0002c0001t0125g0299 a0002c0001t0136g0305 a0002c0001t0137g0310 a0002c0001t0149g0260 a0002c0001t0161g0286 a0002c0001t0181g0269 a0002c0001t0182g0318 a0002c0001t0184g0276 a0002c0001t0198g0259 a0002c0001t0216g0303 a0002c0007t0230g0270 a0003c0002t0010g0282 a0003c0002t0010g0319 a0003c0002t0011g0285 a0003c0002t0011g0291 a0003c0002t0032g0293 a0003c0002t0032g0300 a0003c0002t0033g0309 a0003c0002t0041g0307 a0003c0002t0053g0003 a0003c0002t0111g0297 a0003c0002t0122g0252 a0003c0002t0129g0283 a0003c0002t0158g0345 a0003c0002t0194g0331 a0003c0002t0200g0332 a0003c0002t0204g0007 a0003c0013t0190g0330 a0004c0006t0185g0313 a0004c0006t0202g0342 a0004c0006t0207g0312 a0011c0025t0228g0258	83	366	0.2268	-14	c.7+3 others(27): Show c.7+3111_7+3124delACACACACACACAC	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	1/9			chr18	TogoVar
COMMD10_chr5_116080025_116298287	116158123	TCCCTCCC others(7): Show TCCCTCCCTCCCTTC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02717.hp1 HG02723.hp1 others(2): Show HG02055.hp2 HG02717.hp1 HG02723.hp1 HG03453.hp2 NA18962.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0002g0293 a0001c0001t0002g0295 a0001c0001t0002g0296 others(2): Show a0001c0001t0002g0293 a0001c0001t0002g0295 a0001c0001t0002g0296 a0002c0003t0001g0020 a0002c0003t0001g0054	5	350	0.0143	-14	c.510 others(33): Show c.510+23972_510+23985delTCCCCTCCCTCCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116215695	AATATATA others(7): Show AATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02071.hp1 HG02717.hp1 others(5): Show HG01496.hp2 HG02071.hp1 HG02717.hp1 HG02723.hp1 HG02970.hp2 HG03453.hp2 HG04199.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 a0001c0001t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0001g0069 a0001c0001t0001g0077 a0001c0001t0001g0298 others(5): Show a0001c0001t0001g0069 a0001c0001t0001g0077 a0001c0001t0001g0298 a0001c0001t0002g0293 a0001c0001t0002g0295 a0001c0001t0002g0296 a0002c0003t0001g0056 a0002c0003t0001g0067	8	350	0.0229	-14	c.511 others(33): Show c.511-75799_511-75786delATATATATATATAT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD1_chr2_61900674_62141058	61960113	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	286	0.0035	-14	c.181 others(33): Show c.181-40580_181-40567delGTGTGTGTGTGTGT	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD1_chr2_61900674_62141058	62002491	GAAAAAAA others(7): Show GAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03471.hp2 HG02965.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0002 a0001c0005t0001g0126 a0001c0001t0001g0002 a0001c0005t0001g0126	2	286	0.0070	-14	c.462 others(31): Show c.462+1529_462+1542delAAAAAAAAAAAAAA	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD1_chr2_61900674_62141058	62008361	GACACACA others(7): Show GACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	286	0.0035	-14	c.462 others(31): Show c.462+7395_462+7408delCACACACACACACA	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD1_chr2_61900674_62141058	62014542	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02451.hp1 HG02109.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0002g0225 a0001c0003t0001g0272 a0001c0001t0002g0225 a0001c0003t0001g0272	2	286	0.0070	-14	c.462 others(33): Show c.462+13584_462+13597delTTTTTTTTTTTTTT	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD3_chr10_22311388_22325306	22312421	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	308	0.0033	-14	c.-39 others(25): Show c.-3996_-3983delAAAAAAAAAAAAAA	COMMD3	ENSG00000148444.16	transcript	ENST00000376836.8	protein_coding		3966		chr10	TogoVar
COMMD8_chr4_47445787_47468702	47456267	CATATATA others(7): Show CATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp2 HG01257.hp2 others(29): Show HG00597.hp1 HG00609.hp2 HG01257.hp2 HG01891.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02155.hp2 HG02523.hp2 HG02735.hp2 HG02738.hp2 HG03491.hp1 HG03540.hp2 HG03688.hp2 HG03927.hp1 HG04228.hp2 NA18943.hp2 NA18946.hp2 NA18954.hp2 NA18974.hp1 NA18974.hp2 NA18987.hp1 NA18989.hp2 NA18990.hp1 NA18994.hp1 NA19030.hp1 NA19058.hp1 NA19075.hp1 NA19080.hp2 NA19086.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0024 a0001c0001t0001g0042 others(6): Show a0001c0001t0001g0005 a0001c0001t0001g0024 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0068 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117	32	396	0.0808	-14	c.375 others(29): Show c.375+296_375+309delATATATATATATAT	COMMD8	ENSG00000169019.11	transcript	ENST00000381571.6	protein_coding	3/4			chr4	TogoVar
COMP_chr19_18777773_18796305	18786763	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(48): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00673.hp1 HG00673.hp2 HG01099.hp1 HG01515.hp2 HG01516.hp1 HG01928.hp1 HG02027.hp2 HG02056.hp1 HG02080.hp1 HG02257.hp1 HG02559.hp1 HG03017.hp2 HG03130.hp2 HG03239.hp2 HG03492.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp1 HG04115.hp2 HG04199.hp1 NA18747.hp1 NA18948.hp1 NA18951.hp1 NA18957.hp2 NA18966.hp1 NA18971.hp1 NA18973.hp2 NA18977.hp2 NA18981.hp1 NA18982.hp2 NA18985.hp1 NA18986.hp1 NA19000.hp1 NA19011.hp2 NA19054.hp2 NA19055.hp2 NA19060.hp1 NA19067.hp1 NA19068.hp1 NA19074.hp2 NA19077.hp2 NA19080.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0001 a0001c0001t0001 a0001c0012t0001	a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0015 others(20): Show a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0040 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0012t0001g0167	51	398	0.1281	-14	c.113 others(31): Show c.1136-127_1136-114delAAAAAAAAAAAAAA	COMP	ENSG00000105664.11	transcript	ENST00000222271.7	protein_coding	10/18			chr19	TogoVar
COMP_chr19_18777773_18796305	18787872	TTCTTTCT others(7): Show TTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	398	0.0025	-14	c.976 others(29): Show c.976-236_976-223delGAAAGAAAGAAAGA	COMP	ENSG00000105664.11	transcript	ENST00000222271.7	protein_coding	9/18			chr19	TogoVar
COMT_chr22_19936772_19974975	19938443	CACCATAC others(7): Show CACCATACACATTCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00423.hp2 HG00733.hp1 others(48): Show HG00323.hp2 HG00423.hp2 HG00733.hp1 HG00738.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01175.hp2 HG01243.hp2 HG01496.hp1 HG01981.hp1 HG02055.hp2 HG02486.hp2 HG02559.hp1 HG02602.hp1 HG02683.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG03041.hp2 HG03098.hp2 HG03486.hp1 HG03579.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 NA18940.hp1 NA18946.hp2 NA18951.hp1 NA18953.hp2 NA18959.hp2 NA18977.hp1 NA18986.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19043.hp2 NA19054.hp1 NA19058.hp1 NA19060.hp1 NA19064.hp1 NA19088.hp1 NA19090.hp1 NA20752.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0004 others(2): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0002c0001	a0001c0002t0001 a0001c0002t0003 a0001c0003t0005 others(10): Show a0001c0002t0001 a0001c0002t0003 a0001c0003t0005 a0001c0003t0016 a0001c0004t0001 a0001c0004t0003 a0001c0004t0013 a0001c0005t0004 a0002c0001t0001 a0002c0001t0005 a0002c0001t0007 a0002c0001t0012 a0002c0001t0022	a0001c0002t0001g0258 a0001c0002t0001g0274 a0001c0002t0001g0275 others(45): Show a0001c0002t0001g0258 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0003g0244 a0001c0002t0003g0257 a0001c0003t0005g0016 a0001c0003t0016g0016 a0001c0004t0001g0271 a0001c0004t0003g0210 a0001c0004t0013g0251 a0001c0005t0004g0018 a0001c0005t0004g0272 a0002c0001t0001g0002 a0002c0001t0001g0017 a0002c0001t0001g0236 a0002c0001t0001g0239 a0002c0001t0001g0240 a0002c0001t0001g0241 a0002c0001t0001g0242 a0002c0001t0001g0243 a0002c0001t0001g0247 a0002c0001t0001g0249 a0002c0001t0001g0250 a0002c0001t0001g0252 a0002c0001t0001g0253 a0002c0001t0001g0254 a0002c0001t0001g0255 a0002c0001t0001g0256 a0002c0001t0001g0260 a0002c0001t0001g0261 a0002c0001t0001g0262 a0002c0001t0001g0263 a0002c0001t0001g0268 a0002c0001t0001g0269 a0002c0001t0001g0270 a0002c0001t0001g0273 a0002c0001t0001g0276 a0002c0001t0001g0280 a0002c0001t0005g0264 a0002c0001t0007g0002 a0002c0001t0007g0245 a0002c0001t0007g0246 a0002c0001t0007g0248 a0002c0001t0007g0259 a0002c0001t0007g0265 a0002c0001t0012g0237 a0002c0001t0012g0238 a0002c0001t0022g0266	51	426	0.1197	-14	c.-35 others(25): Show c.-3545_-3532delACCATACACATTCA	COMT	ENSG00000093010.15	transcript	ENST00000361682.11	protein_coding		3328		chr22	TogoVar
COP1_chr1_175939831_176212286	175966280	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG01109.hp1 others(27): Show HG00099.hp1 HG00140.hp2 HG01109.hp1 HG01167.hp2 HG01169.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG01993.hp2 HG02055.hp1 HG02293.hp1 HG02300.hp1 HG02647.hp2 HG02735.hp1 HG02818.hp1 HG03130.hp1 HG03486.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG04184.hp2 HG06807.hp2 NA18954.hp2 NA18981.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005	a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0284 others(27): Show a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0004g0272 a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0004g0277 a0001c0001t0004g0278 a0001c0001t0004g0279 a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0001t0005g0275 a0001c0001t0005g0276	30	300	0.1000	-14	c.213 others(35): Show c.2134-19055_2134-19042delGTGTGTGTGTGTGT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar
COP1_chr1_175939831_176212286	176120438	AAAAAAAA others(7): Show AAAAAAAAGCTTAAT	A A	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	300	0.0033	-14	c.969 others(31): Show c.969-3771_969-3758delATTAAGCTTTTTTT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	8/19			chr1	TogoVar
COP1_chr1_175939831_176212286	176128004	ATCTATGT others(7): Show ATCTATGTCTTCTTT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp2 HG00642.hp2 others(86): Show HG00597.hp2 HG00609.hp2 HG00642.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp2 HG01261.hp1 HG01358.hp2 HG01891.hp2 HG02004.hp2 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02135.hp1 HG02145.hp1 HG02451.hp1 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02723.hp2 HG02738.hp1 HG02886.hp1 HG02922.hp2 HG03041.hp1 HG03471.hp1 HG03492.hp1 HG03492.hp2 HG03669.hp2 HG03688.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18946.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18955.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18961.hp1 NA18965.hp1 NA18967.hp2 NA18970.hp1 NA18974.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18986.hp1 NA18989.hp2 NA18990.hp2 NA18993.hp1 NA19002.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp2 NA19030.hp1 NA19054.hp1 NA19056.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19066.hp1 NA19068.hp1 NA19074.hp2 NA19079.hp2 NA19080.hp1 NA19084.hp1 NA19085.hp2 NA19090.hp1 NA20805.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0005 a0001c0001 a0002c0003 a0004c0005	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0002c0003t0001 a0004c0005t0001	a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 others(86): Show a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0261 a0001c0001t0007g0002 a0001c0001t0009g0059 a0001c0001t0010g0098 a0002c0003t0001g0262 a0002c0003t0001g0263 a0002c0003t0001g0264 a0002c0003t0001g0265 a0002c0003t0001g0266 a0004c0005t0001g0031	89	300	0.2967	-14	c.968 others(31): Show c.968+6992_968+7005delAAAGAAGACATAGA	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	8/19			chr1	TogoVar
COP1_chr1_175939831_176212286	176151333	AAGAAGGA others(7): Show AAGAAGGAAGGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03942.hp2 HG03834.hp2 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0023 a0001c0002t0002g0004 a0001c0002t0002g0023	2	300	0.0067	-14	c.763 others(31): Show c.763-2273_763-2260delCTTTCCTTCCTTCT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	5/19			chr1	TogoVar
COPB1_chr11_14452512_14504811	14470899	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00544.hp2 others(74): Show HG00140.hp2 HG00280.hp1 HG00544.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01256.hp1 HG01257.hp2 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02055.hp1 HG02165.hp1 HG02293.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp2 HG02683.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG03017.hp2 HG03239.hp2 HG03490.hp2 HG03492.hp2 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp2 NA18942.hp2 NA18944.hp1 NA18949.hp1 NA18954.hp1 NA18955.hp1 NA18959.hp1 NA18965.hp1 NA18967.hp1 NA18970.hp2 NA18981.hp2 NA18990.hp2 NA19003.hp2 NA19006.hp2 NA19009.hp2 NA19012.hp1 NA19056.hp2 NA19058.hp1 NA19065.hp2 NA19070.hp1 NA19072.hp2 NA19079.hp1 NA19081.hp1 NA19084.hp2 NA19086.hp2 NA19090.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0016 others(67): Show a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0117 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0293 a0001c0001t0001g0307 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340	77	386	0.1995	-14	c.173 others(33): Show c.1738-1350_1738-1337delGTGTGTGTGTGTGT	COPB1	ENSG00000129083.13	transcript	ENST00000439561.7	protein_coding	14/21			chr11	TogoVar
COPB1_chr11_14452512_14504811	14501167	TGCTGTCC others(7): Show TGCTGTCCTTTGATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0121 a0001c0001t0001g0122	2	386	0.0052	-14	c.-15 others(25): Show c.-1532_-1519delTATCAAAGGACAGC	COPB1	ENSG00000129083.13	transcript	ENST00000439561.7	protein_coding		1357		chr11	TogoVar
COPG2_chr7_130501238_130673748	130513304	AAAAAATA others(7): Show AAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02647.hp2 HG02723.hp1 others(1): Show HG02630.hp2 HG02647.hp2 HG02723.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0247 a0001c0001t0005g0251 a0001c0001t0005g0254 others(1): Show a0001c0001t0005g0247 a0001c0001t0005g0251 a0001c0001t0005g0254 a0001c0001t0005g0258	4	326	0.0123	-14	c.215 others(33): Show c.2150-4659_2150-4646delATATATATATTTTT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	20/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130651494	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02717.hp1 NA18941.hp1 HG02486.hp2 HG02717.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0002t0001g0118 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0002t0001g0118	3	326	0.0092	-14	c.323 others(31): Show c.323+1361_323+1374delAAAAAAAAAAAAAA	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	5/23			chr7	TogoVar
COPRS_chr17_31846871_31864244	31854355	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02572.hp1 HG02622.hp1 others(3): Show HG02451.hp1 HG02572.hp1 HG02622.hp1 HG02647.hp1 HG02922.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0075 a0001c0001t0001g0101 others(1): Show a0001c0001t0001g0021 a0001c0001t0001g0075 a0001c0001t0001g0101 a0001c0001t0001g0102	6	372	0.0161	-14	c.167 others(31): Show c.167-1339_167-1326delTTTTTTTTTTTTTT	COPRS	ENSG00000172301.11	transcript	ENST00000302362.11	protein_coding	2/3			chr17	TogoVar
COPS4_chr4_83030183_83080818	83064869	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	372	0.0027	-14	c.887 others(31): Show c.887-1551_887-1538delTTTTTTTTTTTTTT	COPS4	ENSG00000138663.9	transcript	ENST00000264389.7	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
COPS5_chr8_67038079_67067133	67041968	TACACACA others(7): Show TACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02258.hp1 HG02486.hp1 others(6): Show HG02145.hp2 HG02258.hp1 HG02486.hp1 HG02895.hp2 HG03139.hp1 HG03540.hp2 NA18906.hp2 NA18946.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0143 a0001c0002t0001g0179 a0001c0002t0001g0180 others(6): Show a0001c0001t0001g0143 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0193 a0001c0002t0001g0196 a0001c0002t0001g0201 a0001c0002t0002g0251 a0001c0002t0002g0255	9	292	0.0308	-14	c.12 others(25): Show c.1251_*1264delGTGTGTGTGTGTGT	COPS5	ENSG00000121022.14	transcript	ENST00000357849.9	protein_coding		1110		chr8	TogoVar
COPS5_chr8_67038079_67067133	67056650	AAAATATA others(7): Show AAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01928.hp1 NA19063.hp1 HG01928.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0141 a0001c0001t0001g0047 a0001c0001t0001g0141	2	292	0.0069	-14	c.574 others(27): Show c.574-60_574-47delATATATATATATTT	COPS5	ENSG00000121022.14	transcript	ENST00000357849.9	protein_coding	4/7			chr8	TogoVar
COPS5_chr8_67038079_67067133	67056652	AATATATA others(7): Show AATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01106.hp1 HG00735.hp2 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0001g0147 a0001c0001t0001g0152	2	292	0.0069	-14	c.574 others(27): Show c.574-62_574-49delATATATATATATAT	COPS5	ENSG00000121022.14	transcript	ENST00000357849.9	protein_coding	4/7			chr8	TogoVar
COPS5_chr8_67038079_67067133	67056698	TATATATA others(7): Show TATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02056.hp2 HG03516.hp1 others(1): Show HG01981.hp2 HG02056.hp2 HG03516.hp1 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0248 a0001c0002t0002g0253 a0001c0002t0002g0254 others(1): Show a0001c0002t0002g0248 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0256	4	292	0.0137	-14	c.574 others(28): Show c.574-108_574-95delTTATATATATATAT	COPS5	ENSG00000121022.14	transcript	ENST00000357849.9	protein_coding	4/7			chr8	TogoVar
COPS7A_chr12_6719046_6736865	6733427	ATTGTTTT others(7): Show ATTGTTTTTTGTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 NA19240.hp1 HG03453.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0043 a0001c0001t0008g0043	2	474	0.0042	-14	c.23 others(25): Show c.2389_*2402delTTGTTTTTTGTTTT	COPS7A	ENSG00000111652.10	transcript	ENST00000543155.6	protein_coding		1563		chr12	TogoVar
COPS7B_chr2_231781445_231814253	231808798	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0009 a0001c0001t0044g0009	1	348	0.0029	-14	c.11 others(25): Show c.1184_*1197delGTGTGTGTGTGTGT	COPS7B	ENSG00000144524.18	transcript	ENST00000350033.8	protein_coding	7/7	1184	INFO_REALIGN_3_PRIME	chr2	TogoVar
COPS8_chr2_237080889_237105474	237100795	GTGTATAT others(7): Show GTGTATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0099 a0001c0001t0025g0099	1	348	0.0029	-14	c.30 others(25): Show c.3054_*3067delTGTATATATATATA	COPS8	ENSG00000198612.11	transcript	ENST00000354371.7	protein_coding		322		chr2	TogoVar
COPZ1_chr12_54320131_54356846	54326961	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	368	0.0027	-14	c.18+ others(29): Show c.18+1804_18+1817delTTTTTTTTTTTTTT	COPZ1	ENSG00000111481.10	transcript	ENST00000262061.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
COPZ1_chr12_54320131_54356846	54339980	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0198 a0001c0001t0002g0198	1	368	0.0027	-14	c.19- others(27): Show c.19-540_19-527delGTGTGTGTGTGTGT	COPZ1	ENSG00000111481.10	transcript	ENST00000262061.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
COPZ2_chr17_48021167_48042797	48030289	AACACACA others(7): Show AACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	396	0.0025	-14	c.495 others(31): Show c.495-1127_495-1114delGTGTGTGTGTGTGT	COPZ2	ENSG00000005243.10	transcript	ENST00000621465.5	protein_coding	6/8			chr17	TogoVar
COPZ2_chr17_48021167_48042797	48042122	CTTTTTCT others(7): Show CTTTTTCTTTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	396	0.0025	-14	c.-43 others(25): Show c.-4359_-4346delAAGAAAAAGAAAAA	COPZ2	ENSG00000005243.10	transcript	ENST00000621465.5	protein_coding		4326		chr17	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)