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
COL8A1_chr3_99633594_99804217	99773838	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0029 a0001c0003t0029	a0001c0003t0029g0011 a0001c0003t0029g0011	1	262	0.0038	15	c.-3- others(32): Show c.-3-16842_-3-16841insATATATATATATATA	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3			chr3	TogoVar
COL8A2_chr1_36090239_36130222	36106945	A A	ATGAGTGA others(8): Show ATGAGTGAGGAGGGTC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0185 a0001c0002t0002g0185	1	390	0.0026	15	c.-16 others(32): Show c.-16-6702_-16-6688dupGACCCTCCTCACTCA	COL8A2	ENSG00000171812.13	transcript	ENST00000397799.2	protein_coding	2/3			chr1	TogoVar
COL9A1_chr6_70211126_70308084	70215912	A A	ACACACAC others(8): Show ACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0252 a0003c0003t0002g0252	1	362	0.0028	15	c.98 others(24): Show c.984_*985insGTGTGTGTGTGTGTG	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding		213		chr6	TogoVar
COL9A1_chr6_70211126_70308084	70267327	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0006 a0002c0018t0006	a0002c0018t0006g0343 a0002c0018t0006g0343	1	362	0.0028	15	c.128 others(32): Show c.1288-558_1288-557insAAAAAAAAAAAAAAA	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	17/37			chr6	TogoVar
COL9A1_chr6_70211126_70308084	70279648	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0008 a0002c0004t0008	a0002c0004t0008g0123 a0002c0004t0008g0123	1	362	0.0028	15	c.975 others(32): Show c.975+1149_975+1163dupTTTTTTTTTTTTTTT	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	10/37			chr6	TogoVar
COL9A2_chr1_40295489_40322286	40321119	A A	ATATATAT others(8): Show ATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	438	0.0023	15	c.-39 others(26): Show c.-3923_-3922insATATATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		3834		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40321122	A A	AAAATTTT others(8): Show AAAATTTTATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03209.hp1 HG03041.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0019 a0002c0002t0001g0089 a0002c0002t0001g0019 a0002c0002t0001g0089	2	438	0.0046	15	c.-39 others(26): Show c.-3926_-3925insATATATATAAAATTT	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		3837		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40321122	A A	AAATATAT others(8): Show AAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	438	0.0023	15	c.-39 others(26): Show c.-3926_-3925insATATATATATATATT	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		3837		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40321122	A A	AATTATAT others(8): Show AATTATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01123.hp2 HG02486.hp1 others(5): Show HG01074.hp2 HG01123.hp2 HG02486.hp1 HG04228.hp2 HG06807.hp2 NA18953.hp2 NA19011.hp2 NA19074.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0004c0003 a0006c0006 a0001c0001 a0004c0003 a0006c0006	a0001c0001t0001 a0004c0003t0001 a0006c0006t0001 a0001c0001t0001 a0004c0003t0001 a0006c0006t0001	a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0032 others(4): Show a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0032 a0001c0001t0001g0063 a0001c0001t0001g0186 a0004c0003t0001g0178 a0006c0006t0001g0145	8	438	0.0183	15	c.-39 others(26): Show c.-3926_-3925insATATATATATATAAT	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		3837		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40321167	A A	ATATATAT others(8): Show ATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	438	0.0023	15	c.-39 others(26): Show c.-3971_-3970insATATATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		3882		chr1	TogoVar
COL9A3_chr20_62812050_62846159	62824167	C C	CTGTGTGG others(8): Show CTGTGTGGAGTGGCCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00609.hp1 HG01070.hp2 others(28): Show HG00099.hp1 HG00609.hp1 HG01070.hp2 HG01081.hp1 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01256.hp2 HG01258.hp2 HG01981.hp1 HG01993.hp1 HG02015.hp1 HG02080.hp2 HG02273.hp2 HG02602.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04228.hp1 NA18944.hp1 NA18944.hp2 NA18957.hp1 NA18966.hp1 NA18966.hp2 NA18975.hp1 NA18995.hp2 NA18999.hp2 NA19011.hp2 NA19060.hp1 NA19079.hp1 NA19085.hp1	a0001 a0024 a0001 a0024	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0010 a0001c0047 a0001c0056 a0024c0046	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 a0001c0010t0002 a0001c0047t0001 a0001c0056t0001 a0024c0046t0001	a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0025 others(21): Show a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0224 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0003g0027 a0001c0001t0003g0240 a0001c0002t0001g0236 a0001c0002t0001g0239 a0001c0002t0001g0265 a0001c0004t0001g0041 a0001c0004t0001g0262 a0001c0005t0001g0042 a0001c0005t0001g0059 a0001c0010t0002g0263 a0001c0047t0001g0026 a0001c0056t0001g0241 a0024c0046t0001g0238	31	412	0.0752	15	c.520 others(30): Show c.520-278_520-277insTGTGTGGAGTGGCCT	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	10/31			chr20	TogoVar
COLEC10_chr8_119062247_119113455	119069629	A A	AAAAAAAT others(8): Show AAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA19005.hp1 HG06807.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0130 a0001c0001t0002g0131	2	388	0.0052	15	c.148 others(32): Show c.148+2201_148+2202insAAAAATATATATATA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC12_chr18_311737_505701	406515	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02615.hp1 HG01243.hp1 HG02615.hp1	a0002 a0003 a0002 a0003	a0002c0001 a0003c0002 a0002c0001 a0003c0002	a0002c0001t0019 a0003c0002t0096 a0002c0001t0019 a0003c0002t0096	a0002c0001t0019g0008 a0003c0002t0096g0027 a0002c0001t0019g0008 a0003c0002t0096g0027	2	366	0.0055	15	c.59- others(32): Show c.59-49008_59-48994dupTTTTTTTTTTTTTTT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	2/9			chr18	TogoVar
COLEC12_chr18_311737_505701	419148	C C	CTTCTATT others(8): Show CTTCTATTCTATTCTA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG03669.hp2 NA18994.hp2 others(1): Show HG01255.hp2 HG03669.hp2 NA18994.hp2 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0005 a0002c0001 a0003c0002 a0001c0005 a0002c0001 a0003c0002	a0001c0005t0197 a0002c0001t0113 a0002c0001t0237 others(1): Show a0001c0005t0197 a0002c0001t0113 a0002c0001t0237 a0003c0002t0119	a0001c0005t0197g0009 a0002c0001t0113g0149 a0002c0001t0237g0073 others(1): Show a0001c0005t0197g0009 a0002c0001t0113g0149 a0002c0001t0237g0073 a0003c0002t0119g0019	4	366	0.0109	15	c.58+ others(32): Show c.58+61544_58+61558dupTAGAATAGAATAGAA	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	2/9			chr18	TogoVar
COMMD10_chr5_116080025_116298287	116158485	C C	CTCTCCTC others(8): Show CTCTCCTCTCTCTCCG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp2 HG00735.hp1 others(29): Show HG00438.hp1 HG00621.hp2 HG00735.hp1 HG01261.hp1 HG02071.hp1 HG02083.hp1 HG02165.hp1 HG02165.hp2 HG02451.hp1 HG02723.hp2 HG02809.hp2 HG02895.hp2 HG02897.hp1 HG03041.hp2 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18943.hp2 NA18947.hp2 NA18962.hp1 NA18968.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp2 NA19088.hp1 NA19240.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0003 a0001c0001 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0001t0005 a0001c0005t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0005t0001 a0002c0003t0001	a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0001g0327 others(29): Show a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0001g0327 a0001c0001t0001g0335 a0001c0001t0005g0194 a0001c0005t0001g0105 a0002c0003t0001g0011 a0002c0003t0001g0014 a0002c0003t0001g0015 a0002c0003t0001g0016 a0002c0003t0001g0018 a0002c0003t0001g0021 a0002c0003t0001g0022 a0002c0003t0001g0025 a0002c0003t0001g0026 a0002c0003t0001g0028 a0002c0003t0001g0029 a0002c0003t0001g0032 a0002c0003t0001g0033 a0002c0003t0001g0035 a0002c0003t0001g0040 a0002c0003t0001g0041 a0002c0003t0001g0042 a0002c0003t0001g0043 a0002c0003t0001g0049 a0002c0003t0001g0051 a0002c0003t0001g0052 a0002c0003t0001g0054 a0002c0003t0001g0055 a0002c0003t0001g0056 a0002c0003t0001g0057 a0002c0003t0001g0067	32	350	0.0914	15	c.510 others(34): Show c.510+24318_510+24319insTCCGTCTCCTCTCTC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158495	T T	TCTCCTCT others(8): Show TCTCCTCTCCCCTCTC	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	350	0.0029	15	c.510 others(34): Show c.510+24318_510+24319insTCCTCTCCCCTCTCC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116295608	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 NA18965.hp2 HG02630.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0231 a0001c0001t0002g0294 a0001c0001t0001g0231 a0001c0001t0002g0294	2	350	0.0057	15	c.31 others(26): Show c.3119_*3120insAAAAAAAAAAAAAAT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding		2322		chr5	TogoVar
COMMD10_chr5_116080025_116298287	116295608	A A	AAAAAAAA others(8): Show AAAAAAAAAAAATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01993.hp1 NA18967.hp2 HG01934.hp1 HG01993.hp1 NA18967.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0003c0007t0001 a0001c0001t0001 a0003c0007t0001	a0001c0001t0001g0228 a0001c0001t0001g0252 a0003c0007t0001g0198 a0001c0001t0001g0228 a0001c0001t0001g0252 a0003c0007t0001g0198	3	350	0.0086	15	c.31 others(26): Show c.3119_*3120insAAAAAAAAAAATAAT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding		2322		chr5	TogoVar
COMMD10_chr5_116080025_116298287	116295608	A A	AAAAAAAA others(8): Show AAAAAAAAATAATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00621.hp2 HG00639.hp2 others(21): Show HG00597.hp1 HG00621.hp2 HG00639.hp2 HG01346.hp1 HG01361.hp2 HG01517.hp2 HG02015.hp2 HG02083.hp1 HG03471.hp1 HG04199.hp1 NA18957.hp1 NA18960.hp1 NA18962.hp1 NA18967.hp1 NA18981.hp1 NA18982.hp1 NA18991.hp1 NA19001.hp1 NA19002.hp1 NA19011.hp1 NA19054.hp1 NA19064.hp1 NA19082.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0002g0070 a0002c0003t0001g0001 a0002c0003t0001g0002 others(20): Show a0001c0001t0002g0070 a0002c0003t0001g0001 a0002c0003t0001g0002 a0002c0003t0001g0036 a0002c0003t0001g0037 a0002c0003t0001g0038 a0002c0003t0001g0039 a0002c0003t0001g0040 a0002c0003t0001g0041 a0002c0003t0001g0044 a0002c0003t0001g0046 a0002c0003t0001g0047 a0002c0003t0001g0048 a0002c0003t0001g0051 a0002c0003t0001g0053 a0002c0003t0001g0054 a0002c0003t0001g0058 a0002c0003t0001g0059 a0002c0003t0001g0061 a0002c0003t0001g0062 a0002c0003t0001g0063 a0002c0003t0001g0064 a0002c0003t0001g0066	24	350	0.0686	15	c.31 others(26): Show c.3119_*3120insAAAAAAAATAATAAT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding		2322		chr5	TogoVar
COMMD10_chr5_116080025_116298287	116295608	A A	AAAAAATA others(8): Show AAAAAATAATAATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp2 NA19090.hp1 NA18989.hp2 NA19090.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0045 a0002c0003t0001g0065 a0002c0003t0001g0045 a0002c0003t0001g0065	2	350	0.0057	15	c.31 others(26): Show c.3119_*3120insAAAAATAATAATAAT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding		2322		chr5	TogoVar
COMMD1_chr2_61900674_62141058	62027621	T T	TTTATGTT others(8): Show TTTATGTTATGTTATG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01261.hp1 NA18975.hp1 HG01167.hp1 HG01261.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0233 a0001c0001t0001g0249 a0001c0001t0001g0038 a0001c0001t0001g0233 a0001c0001t0001g0249	3	286	0.0105	15	c.462 others(34): Show c.462+26662_462+26676dupATGTTATGTTATGTT	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD3_chr10_22311388_22325306	22321860	C C	CGCCCCGC others(8): Show CGCCCCGCGCCTGCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	308	0.0033	15	c.18 others(26): Show c.1862_*1863insGCCCCGCGCCTGCCG	COMMD3	ENSG00000148444.16	transcript	ENST00000376836.8	protein_coding		1555		chr10	TogoVar
COMMD7_chr20_32697699_32748467	32712293	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	400	0.0025	15	c.242 others(32): Show c.242-5534_242-5533insCTTTTTTTTTTTTTT	COMMD7	ENSG00000149600.12	transcript	ENST00000278980.11	protein_coding	3/8			chr20	TogoVar
COMMD7_chr20_32697699_32748467	32714824	A A	AAACAACA others(8): Show AAACAACAACAACAAC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp2 HG01081.hp2 others(37): Show HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp1 HG01192.hp1 HG01192.hp2 HG01346.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01934.hp2 HG01975.hp1 HG01981.hp1 HG02109.hp2 HG02135.hp2 HG02615.hp2 HG02683.hp2 HG02735.hp1 HG02809.hp2 HG03669.hp1 HG03710.hp2 HG03831.hp1 NA18522.hp1 NA18906.hp2 NA18946.hp1 NA18950.hp2 NA18953.hp2 NA18959.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18985.hp2 NA18989.hp2 NA18991.hp2 NA18999.hp1 NA19056.hp2 NA19057.hp1 NA19240.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0051 others(35): Show a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0099 a0001c0001t0001g0119 a0001c0001t0001g0243 a0001c0001t0001g0301 a0001c0001t0001g0328 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0350 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0360 a0001c0001t0003g0296 a0001c0001t0005g0359	40	400	0.1000	15	c.242 others(32): Show c.242-8079_242-8065dupGTTGTTGTTGTTGTT	COMMD7	ENSG00000149600.12	transcript	ENST00000278980.11	protein_coding	3/8			chr20	TogoVar
COMMD7_chr20_32697699_32748467	32737379	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01074.hp2 HG01167.hp2 others(12): Show HG00280.hp2 HG01074.hp2 HG01167.hp2 HG01243.hp2 HG01891.hp2 HG02717.hp2 HG02735.hp1 HG03453.hp2 HG03486.hp2 NA18522.hp1 NA18948.hp1 NA18956.hp2 NA18988.hp1 NA19056.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 others(12): Show a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0035 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0098 a0001c0001t0001g0117 a0001c0001t0001g0263 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0005g0359	15	400	0.0375	15	c.84+ others(30): Show c.84+5928_84+5929insCTTTTTTTTTTTTTT	COMMD7	ENSG00000149600.12	transcript	ENST00000278980.11	protein_coding	1/8			chr20	TogoVar
COMMD8_chr4_47445787_47468702	47447407	A A	ACACACAC others(8): Show ACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	396	0.0025	15	c.42 others(26): Show c.4237_*4238insGTGTGTGTGTGTGTG	COMMD8	ENSG00000169019.11	transcript	ENST00000381571.6	protein_coding		3379		chr4	TogoVar
COMP_chr19_18777773_18796305	18787864	C C	CTTTTTCT others(8): Show CTTTTTCTTTTTTCTT	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	398	0.0025	15	c.976 others(30): Show c.976-215_976-214insAAGAAAAAAGAAAAA	COMP	ENSG00000105664.11	transcript	ENST00000222271.7	protein_coding	9/18			chr19	TogoVar
COMTD1_chr10_75228641_75240957	75232740	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp1 NA19005.hp1 NA19054.hp2 others(1): Show NA18995.hp1 NA19005.hp1 NA19054.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	410	0.0098	15	c.13 others(26): Show c.1332_*1333insAAAAAAAAAAAAAAA	COMTD1	ENSG00000165644.11	transcript	ENST00000372538.8	protein_coding		900		chr10	TogoVar
COP1_chr1_175939831_176212286	175949168	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03704.hp2 HG03831.hp2 others(2): Show HG02622.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp2 NA18962.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0008 a0001c0002t0011 a0001c0002t0002 a0001c0002t0008 a0001c0002t0011	a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0025 others(2): Show a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0025 a0001c0002t0008g0026 a0001c0002t0011g0267	5	300	0.0167	15	c.213 others(34): Show c.2134-1944_2134-1930dupTTTTTTTTTTTTTTT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar
COP1_chr1_175939831_176212286	175955801	C C	CACACACA others(8): Show CACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	300	0.0033	15	c.213 others(34): Show c.2134-8563_2134-8562insTGTGTGTGTGTGTGT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar
COP1_chr1_175939831_176212286	175976270	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	300	0.0033	15	c.213 others(36): Show c.2133+10658_2133+10672dupAAAAAAAAAAAAAAA	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar
COP1_chr1_175939831_176212286	176019463	A A	AAATAATA others(8): Show AAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	300	0.0033	15	c.172 others(34): Show c.1729+8094_1729+8108dupATTATTATTATTATT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	15/19			chr1	TogoVar
COP1_chr1_175939831_176212286	176093838	T T	TCAAAACA others(8): Show TCAAAACAAAACAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0012 a0001c0006t0012	a0001c0006t0012g0268 a0001c0006t0012g0268	1	300	0.0033	15	c.102 others(34): Show c.1027-7963_1027-7949dupTTTTGTTTTGTTTTG	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	9/19			chr1	TogoVar
COP1_chr1_175939831_176212286	176173986	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0270 a0001c0001t0004g0270	1	300	0.0033	15	c.565 others(32): Show c.565+1909_565+1923dupTTTTTTTTTTTTTTT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	3/19			chr1	TogoVar
COPB1_chr11_14452512_14504811	14454637	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00408.hp1 others(72): Show HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00544.hp1 HG00558.hp2 HG00621.hp2 HG00738.hp2 HG01081.hp1 HG01106.hp2 HG01169.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01496.hp2 HG01515.hp2 HG01884.hp1 HG01891.hp1 HG01975.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp2 HG02293.hp2 HG02559.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02896.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03453.hp2 HG03471.hp2 HG03540.hp2 HG03654.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG04115.hp1 NA18747.hp1 NA18945.hp1 NA18946.hp2 NA18949.hp2 NA18950.hp2 NA18955.hp2 NA18961.hp2 NA18964.hp1 NA18965.hp2 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18981.hp1 NA18982.hp1 NA18985.hp2 NA18986.hp1 NA19000.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19030.hp1 NA19062.hp2 NA19075.hp1 NA19076.hp2 NA19079.hp2 NA19084.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0002c0007t0001 a0001c0001t0001 a0001c0001t0002 a0002c0007t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(70): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0237 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0261 a0001c0001t0001g0265 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0335 a0001c0001t0002g0037 a0001c0001t0002g0103 a0002c0007t0001g0240	75	386	0.1943	15	c.31 others(26): Show c.3172_*3186dupTTTTTTTTTTTTTTT	COPB1	ENSG00000129083.13	transcript	ENST00000439561.7	protein_coding		2874		chr11	TogoVar
COPB1_chr11_14452512_14504811	14477389	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	386	0.0026	15	c.135 others(32): Show c.1359-389_1359-375dupTTTTTTTTTTTTTTT	COPB1	ENSG00000129083.13	transcript	ENST00000439561.7	protein_coding	11/21			chr11	TogoVar
COPE_chr19_18894514_18924387	18905494	A A	AGACGCTC others(8): Show AGACGCTCTGGGCTGT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0229 a0001c0002t0001g0229	1	330	0.0030	15	c.497 others(28): Show c.497+67_497+81dupACAGCCCAGAGCGTC	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	5/9			chr19	TogoVar
COPG2_chr7_130501238_130673748	130545170	T T	TATTTCAT others(8): Show TATTTCATTTCATTTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01255.hp2 HG02559.hp1 HG00099.hp1 HG01255.hp2 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0036 a0001c0002t0001g0060 a0001c0002t0002g0088 a0001c0002t0001g0036 a0001c0002t0001g0060 a0001c0002t0002g0088	3	326	0.0092	15	c.214 others(34): Show c.2149+2489_2149+2503dupGAAATGAAATGAAAT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	20/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130655768	G G	GTGTCTCT others(8): Show GTGTCTCTTTATCCCA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0022	1	326	0.0031	15	c.244 others(32): Show c.244-2821_244-2820insTGGGATAAAGAGACA	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	4/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130659354	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01070.hp1 HG01071.hp2 others(49): Show HG00558.hp1 HG01070.hp1 HG01071.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG02055.hp1 HG02129.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp2 HG02257.hp2 HG02300.hp1 HG02559.hp2 HG02572.hp1 HG02683.hp1 HG02738.hp1 HG02922.hp1 HG02970.hp2 HG03041.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03492.hp2 HG03540.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp2 NA18952.hp2 NA18955.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18978.hp2 NA18980.hp1 NA18994.hp1 NA18998.hp1 NA19004.hp1 NA19078.hp1 NA19082.hp2 NA19091.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0009 a0001c0001 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0007c0009t0002	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 others(49): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0200 a0001c0001t0001g0213 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0002g0026 a0001c0001t0002g0152 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0225 a0001c0001t0002g0231 a0001c0001t0004g0308 a0001c0001t0006g0149 a0001c0001t0006g0198 a0001c0001t0006g0201 a0001c0001t0008g0318 a0001c0001t0012g0206 a0007c0009t0002g0217	52	326	0.1595	15	c.243 others(32): Show c.243+3612_243+3613insTTTTTTTTTTTTTTT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	4/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130671851	C C	CTTTATTT others(8): Show CTTTATTTTATTTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG03490.hp1 HG03492.hp1 HG00099.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0036 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0036	3	326	0.0092	15	c.-31 others(26): Show c.-3198_-3184dupATAAAATAAAATAAA	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding		3104		chr7	TogoVar
COPS3_chr17_17241616_17286246	17274416	A A	ATTAGATA others(8): Show ATTAGATAATATCCAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00408.hp2 others(227): 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 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02055.hp2 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp2 NA18906.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 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18961.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 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19058.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19077.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 others(183): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 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 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0002g0028 a0001c0001t0002g0218 a0001c0002t0001g0001 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0237 a0001c0002t0004g0114 a0001c0003t0001g0190 a0001c0004t0001g0143	230	352	0.6534	15	c.185 others(32): Show c.185+1618_185+1619insATGGATATTATCTAA	COPS3	ENSG00000141030.13	transcript	ENST00000268717.10	protein_coding	2/11			chr17	TogoVar
COPS5_chr8_67038079_67067133	67056636	G G	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0182 a0001c0002t0001g0182	1	292	0.0034	15	c.574 others(28): Show c.574-47_574-33dupTTTTTTTTTTTTTTT	COPS5	ENSG00000121022.14	transcript	ENST00000357849.9	protein_coding	4/7			chr8	TogoVar
COPS9_chr2_240125828_240141305	240139566	A A	AGGGGAAG others(8): Show AGGGGAAGAGAGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0040 a0001c0001t0005g0040	1	442	0.0023	15	c.-32 others(26): Show c.-3283_-3282insCTCCCTCTCTTCCCC	COPS9	ENSG00000172428.11	transcript	ENST00000607357.2	protein_coding		3262		chr2	TogoVar
COPZ1_chr12_54320131_54356846	54323665	T T	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	368	0.0027	15	c.-14 others(26): Show c.-1499_-1498insTTCTTTCTTTCTTTC	COPZ1	ENSG00000111481.10	transcript	ENST00000262061.7	protein_coding		1465		chr12	TogoVar
COPZ1_chr12_54320131_54356846	54323668	C C	CTTTCTTT others(8): Show CTTTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	368	0.0027	15	c.-14 others(26): Show c.-1496_-1495insTTTCTTTCTTTCTTT	COPZ1	ENSG00000111481.10	transcript	ENST00000262061.7	protein_coding		1462		chr12	TogoVar
COPZ1_chr12_54320131_54356846	54326124	A A	AATAATAA others(8): Show AATAATAATTATTATT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0158 a0001c0003t0005g0158	1	368	0.0027	15	c.18+ others(28): Show c.18+945_18+946insAATAATTATTATTAT	COPZ1	ENSG00000111481.10	transcript	ENST00000262061.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
COPZ1_chr12_54320131_54356846	54326124	A A	AATAATTA others(8): Show AATAATTATTATTATT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0160 a0001c0003t0005g0161 a0001c0003t0005g0160 a0001c0003t0005g0161	2	368	0.0054	15	c.18+ others(28): Show c.18+945_18+946insAATTATTATTATTAT	COPZ1	ENSG00000111481.10	transcript	ENST00000262061.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
COPZ1_chr12_54320131_54356846	54326124	A A	AATTATTA others(8): Show AATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01346.hp1 HG01978.hp1 others(12): Show HG00323.hp2 HG01346.hp1 HG01978.hp1 HG02074.hp2 HG04184.hp2 NA18945.hp1 NA18963.hp2 NA18965.hp1 NA18986.hp1 NA18994.hp1 NA18997.hp2 NA19004.hp2 NA19054.hp1 NA19078.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0001 a0001c0001t0002 a0001c0001t0011	a0001c0001t0001g0194 a0001c0001t0002g0037 a0001c0001t0002g0038 others(12): Show a0001c0001t0001g0194 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0011g0191	15	368	0.0408	15	c.18+ others(28): Show c.18+959_18+973dupATTATTATTATTATT	COPZ1	ENSG00000111481.10	transcript	ENST00000262061.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
COQ5_chr12_120498279_120534158	120514745	A A	AAACAACA others(8): Show AAACAACAACAACAAC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0080 a0001c0002t0002g0080	1	388	0.0026	15	c.574 others(32): Show c.574+1807_574+1821dupGTTGTTGTTGTTGTT	COQ5	ENSG00000110871.15	transcript	ENST00000288532.11	protein_coding	3/6			chr12	TogoVar

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