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
GATAD2B_chr1_153799725_153927972	153816059	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02293.hp2 NA18966.hp2 NA19007.hp2 HG02293.hp2 NA18966.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0262 a0001c0001t0001g0305 a0001c0001t0001g0244 a0001c0001t0001g0262 a0001c0001t0001g0305	3	349	0.0086	13	c.121 others(30): Show c.1216+213_1216+214insGTGTGTGTGTGTG	GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	7/10			chr1	TogoVar
GATAD2B_chr1_153799725_153927972	153839108	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03834.hp2 HG02965.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0073 a0001c0001t0004g0060 a0001c0001t0001g0073 a0001c0001t0004g0060	2	349	0.0057	13	c.-1- others(30): Show c.-1-10773_-1-10761dupTTTTTTTTTTTTT	GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	1/10			chr1	TogoVar
GATAD2B_chr1_153799725_153927972	153876227	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03710.hp1 NA18977.hp1 others(1): Show HG03225.hp1 HG03710.hp1 NA18977.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0022 a0001c0001t0026 others(1): Show a0001c0001t0004 a0001c0001t0022 a0001c0001t0026 a0001c0001t0030	a0001c0001t0004g0134 a0001c0001t0022g0210 a0001c0001t0026g0234 others(1): Show a0001c0001t0004g0134 a0001c0001t0022g0210 a0001c0001t0026g0234 a0001c0001t0030g0158	4	349	0.0115	13	c.-2+ others(30): Show c.-2+46493_-2+46505dupTTTTTTTTTTTTT	GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	1/10			chr1	TogoVar
GATAD2B_chr1_153799725_153927972	153901852	T T	TAAATAAA others(6): Show TAAATAAATAAATA	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0291	1	349	0.0029	13	c.-2+ others(30): Show c.-2+20880_-2+20881insTATTTATTTATTT	GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	1/10			chr1	TogoVar
GATB_chr4_151665504_151766007	151686652	G G	GCCCCGCC others(6): Show GCCCCGCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG03195.hp2 HG01978.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0179 a0001c0001t0001g0093 a0001c0001t0001g0179	2	320	0.0063	13	c.133 others(32): Show c.1331+1977_1331+1978insGGGGGGGGCGGGG	GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding	10/12			chr4	TogoVar
GATB_chr4_151665504_151766007	151765889	A A	AGAGAGAG others(6): Show AGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	320	0.0031	13	c.-49 others(24): Show c.-4908_-4907insCTCTCTCTCTCTC	GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding		4883		chr4	TogoVar
GATC_chr12_120441444_120468749	120451872	A A	ATTCTTTT others(6): Show ATTCTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01099.hp1 HG02486.hp1 others(9): Show HG00741.hp2 HG01099.hp1 HG02486.hp1 HG02523.hp1 HG03225.hp2 HG03486.hp1 HG03486.hp2 NA18980.hp1 NA18985.hp1 NA19000.hp1 NA19030.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0008 a0001c0001t0014 others(3): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0014 a0001c0002t0002 a0001c0002t0013 a0001c0002t0018	a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0008g0126 others(8): Show a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0008g0126 a0001c0001t0014g0125 a0001c0002t0002g0033 a0001c0002t0002g0060 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0116 a0001c0002t0013g0076 a0001c0002t0018g0079	12	408	0.0294	13	c.254 others(30): Show c.254+5046_254+5058dupCTTTTTTTTTTTT	GATC	ENSG00000257218.6	transcript	ENST00000551765.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
GATC_chr12_120441444_120468749	120451875	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTCT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG01975.hp1 others(33): Show HG00323.hp1 HG00408.hp1 HG01975.hp1 HG01993.hp1 HG02015.hp1 HG02027.hp1 HG02155.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp2 HG02698.hp1 HG02818.hp2 HG02922.hp2 HG02970.hp1 HG03130.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03579.hp2 NA18612.hp1 NA18747.hp2 NA18941.hp1 NA18946.hp1 NA18959.hp2 NA18961.hp1 NA18965.hp2 NA18967.hp2 NA18986.hp2 NA18999.hp2 NA19000.hp2 NA19005.hp1 NA19043.hp2 NA19079.hp1 NA19081.hp2 NA19087.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0022 a0001c0001t0003 a0001c0001t0007 a0001c0001t0022	a0001c0001t0003g0004 a0001c0001t0003g0009 a0001c0001t0003g0017 others(14): Show a0001c0001t0003g0004 a0001c0001t0003g0009 a0001c0001t0003g0017 a0001c0001t0003g0035 a0001c0001t0003g0054 a0001c0001t0003g0063 a0001c0001t0003g0071 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0118 a0001c0001t0007g0004 a0001c0001t0007g0048 a0001c0001t0007g0066 a0001c0001t0007g0091 a0001c0001t0007g0155 a0001c0001t0007g0156 a0001c0001t0022g0067	36	408	0.0882	13	c.254 others(30): Show c.254+5057_254+5058insCTTTTTTTTTTTT	GATC	ENSG00000257218.6	transcript	ENST00000551765.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
GATC_chr12_120441444_120468749	120451875	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01169.hp1 HG01192.hp1 others(11): Show HG00099.hp2 HG01169.hp1 HG01192.hp1 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02258.hp1 HG03471.hp1 HG03490.hp1 HG03492.hp1 HG03688.hp1 HG03704.hp1 NA18947.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0022 a0001c0001t0030 others(1): Show a0001c0001t0003 a0001c0001t0022 a0001c0001t0030 a0001c0001t0040	a0001c0001t0003g0012 a0001c0001t0003g0041 a0001c0001t0003g0128 others(8): Show a0001c0001t0003g0012 a0001c0001t0003g0041 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0140 a0001c0001t0022g0141 a0001c0001t0030g0012 a0001c0001t0040g0012	14	408	0.0343	13	c.254 others(30): Show c.254+5054_254+5066dupTTTTTTTTTTTTT	GATC	ENSG00000257218.6	transcript	ENST00000551765.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
GATC_chr12_120441444_120468749	120451876	T T	TTTTTTTT others(6): Show TTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0086 a0001c0002t0002g0086	1	408	0.0025	13	c.254 others(30): Show c.254+5059_254+5060insCTTTTTTTTTTTT	GATC	ENSG00000257218.6	transcript	ENST00000551765.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
GBE1_chr3_81484703_81766645	81710232	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02809.hp1 HG03471.hp2 others(1): Show HG02572.hp1 HG02809.hp1 HG03471.hp2 NA18522.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0008 a0001c0004t0007 a0001c0004t0008	a0001c0004t0007g0301 a0001c0004t0008g0295 a0001c0004t0008g0297 others(1): Show a0001c0004t0007g0301 a0001c0004t0008g0295 a0001c0004t0008g0297 a0001c0004t0008g0302	4	304	0.0132	13	c.144 others(30): Show c.144-4632_144-4620dupAAAAAAAAAAAAA	GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	1/15			chr3	TogoVar
GBE1_chr3_81484703_81766645	81728934	C C	CTCAAGAA others(6): Show CTCAAGAAGCTGGT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0017 a0001c0004t0001g0017	1	304	0.0033	13	c.144 others(32): Show c.144-23334_144-23322dupACCAGCTTCTTGA	GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	1/15			chr3	TogoVar
GBF1_chr10_102240532_102387896	102271196	C C	CAAAGATC others(6): Show CAAAGATCAAAACA	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0091	1	330	0.0030	13	c.163 others(32): Show c.163+11080_163+11081insAAAGATCAAAACA	GBF1	ENSG00000107862.7	transcript	ENST00000369983.5	protein_coding	3/39			chr10	TogoVar
GBF1_chr10_102240532_102387896	102293764	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01516.hp1 HG01517.hp1 HG01099.hp1 HG01516.hp1 HG01517.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0108 a0002c0002t0001g0172 a0002c0002t0001g0203 a0002c0002t0001g0108 a0002c0002t0001g0172 a0002c0002t0001g0203	3	330	0.0091	13	c.163 others(32): Show c.163+33652_163+33653insTTTTTTTTTTTTT	GBF1	ENSG00000107862.7	transcript	ENST00000369983.5	protein_coding	3/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
GBP2_chr1_89101132_89131114	89102941	A A	ATATATAT others(6): Show ATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0003 a0002c0002t0003g0003	1	414	0.0024	13	c.52 others(24): Show c.5233_*5234insATATATATATATA	GBP2	ENSG00000162645.13	transcript	ENST00000370466.4	protein_coding		3190		chr1	TogoVar
GBP3_chr1_89001680_89027866	89021544	A A	ACACACAC others(6): Show ACACACACACACCC	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA19057.hp1 NA18964.hp1 NA19057.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0110 a0004c0004t0001g0120 a0004c0004t0001g0110 a0004c0004t0001g0120	2	436	0.0046	13	c.-22 others(28): Show c.-22-802_-22-801insGGGTGTGTGTGTG	GBP3	ENSG00000117226.12	transcript	ENST00000370481.9	protein_coding	1/10			chr1	TogoVar
GBP3_chr1_89001680_89027866	89021832	A A	AGAGAGAG others(6): Show AGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA19076.hp2 HG03831.hp2 NA19076.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0006 a0002c0002t0003 a0002c0002t0006	a0002c0002t0003g0168 a0002c0002t0006g0167 a0002c0002t0003g0168 a0002c0002t0006g0167	2	436	0.0046	13	c.-23 others(28): Show c.-23+851_-23+852insCTCTCTCTCTCTC	GBP3	ENSG00000117226.12	transcript	ENST00000370481.9	protein_coding	1/10			chr1	TogoVar
GCA_chr2_162339132_162368123	162345136	T T	TGGTGGTG others(6): Show TGGTGGTGGTGGTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	366	0.0027	13	c.27+ others(26): Show c.27+861_27+862insGGTGGTGGTGGTG	GCA	ENSG00000115271.11	transcript	ENST00000437150.7	protein_coding	1/7			chr2	TogoVar
GCC2_chr2_108444206_108514415	108459745	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02622.hp2 HG03669.hp2 others(5): Show HG02486.hp2 HG02622.hp2 HG03669.hp2 NA18940.hp2 NA18962.hp2 NA18994.hp1 NA19056.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 others(2): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 a0001c0001t0049 a0001c0006t0018	a0001c0001t0003g0120 a0001c0001t0003g0123 a0001c0001t0005g0138 others(5): Show a0001c0001t0003g0120 a0001c0001t0003g0123 a0001c0001t0005g0138 a0001c0001t0016g0113 a0001c0001t0016g0121 a0001c0001t0016g0124 a0001c0001t0049g0122 a0001c0006t0018g0148	8	276	0.0290	13	c.216 others(30): Show c.216+7300_216+7312dupTTTTTTTTTTTTT	GCC2	ENSG00000135968.22	transcript	ENST00000309863.11	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
GCC2_chr2_108444206_108514415	108476054	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0050 a0009c0017t0050	a0009c0017t0050g0163 a0009c0017t0050g0163	1	276	0.0036	13	c.306 others(30): Show c.3060+218_3060+230dupTTTTTTTTTTTTT	GCC2	ENSG00000135968.22	transcript	ENST00000309863.11	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
GCC2_chr2_108444206_108514415	108478240	G G	GTATAATT others(6): Show GTATAATTATAAAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp1 HG01074.hp1 others(68): Show HG00323.hp1 HG00639.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01884.hp1 HG01891.hp2 HG01981.hp2 HG02055.hp1 HG02056.hp1 HG02145.hp2 HG02258.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02738.hp1 HG02818.hp2 HG02886.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG04184.hp1 HG04199.hp2 NA18522.hp2 NA18940.hp2 NA18947.hp1 NA18954.hp2 NA18960.hp1 NA18962.hp2 NA18970.hp2 NA18994.hp1 NA19056.hp1 NA19062.hp2 NA19066.hp2 NA19067.hp1 NA19074.hp1 NA19080.hp2 NA19081.hp2 NA19088.hp2 NA19089.hp1 NA19240.hp2 NA20805.hp2 NA21309.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0006 a0001c0008 others(4): Show a0001c0001 a0001c0006 a0001c0008 a0001c0009 a0001c0019 a0002c0003 a0009c0017	a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 others(16): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0016 a0001c0001t0017 a0001c0001t0025 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0001t0045 a0001c0001t0048 a0001c0001t0049 a0001c0006t0018 a0001c0006t0032 a0001c0008t0014 a0001c0009t0003 a0001c0019t0010 a0002c0003t0003 a0009c0017t0050	a0001c0001t0003g0004 a0001c0001t0003g0096 a0001c0001t0003g0099 others(66): Show a0001c0001t0003g0004 a0001c0001t0003g0096 a0001c0001t0003g0099 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0114 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0123 a0001c0001t0003g0125 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0135 a0001c0001t0003g0141 a0001c0001t0003g0143 a0001c0001t0003g0145 a0001c0001t0005g0004 a0001c0001t0005g0006 a0001c0001t0005g0093 a0001c0001t0005g0094 a0001c0001t0005g0101 a0001c0001t0005g0136 a0001c0001t0005g0138 a0001c0001t0005g0140 a0001c0001t0005g0142 a0001c0001t0011g0129 a0001c0001t0011g0130 a0001c0001t0011g0139 a0001c0001t0011g0150 a0001c0001t0011g0151 a0001c0001t0016g0113 a0001c0001t0016g0121 a0001c0001t0016g0124 a0001c0001t0017g0097 a0001c0001t0017g0098 a0001c0001t0017g0126 a0001c0001t0025g0095 a0001c0001t0025g0100 a0001c0001t0036g0115 a0001c0001t0037g0134 a0001c0001t0039g0137 a0001c0001t0045g0153 a0001c0001t0048g0144 a0001c0001t0049g0122 a0001c0006t0018g0146 a0001c0006t0018g0148 a0001c0006t0018g0149 a0001c0006t0032g0147 a0001c0008t0014g0160 a0001c0008t0014g0161 a0001c0008t0014g0162 a0001c0009t0003g0005 a0001c0019t0010g0154 a0002c0003t0003g0106 a0002c0003t0003g0107 a0002c0003t0003g0108 a0002c0003t0003g0109 a0002c0003t0003g0110 a0002c0003t0003g0111 a0002c0003t0003g0112 a0009c0017t0050g0163	71	276	0.2573	13	c.306 others(32): Show c.3060+2391_3060+2392insATAATTATAAATT	GCC2	ENSG00000135968.22	transcript	ENST00000309863.11	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
GCC2_chr2_108444206_108514415	108509733	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02486.hp2 HG03195.hp1 HG02055.hp1 HG02486.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0011 a0001c0006t0018 a0001c0001t0011 a0001c0006t0018	a0001c0001t0011g0129 a0001c0006t0018g0146 a0001c0006t0018g0148 a0001c0001t0011g0129 a0001c0006t0018g0146 a0001c0006t0018g0148	3	276	0.0109	13	c.21 others(24): Show c.2103_*2104insTTTTTTTTTTTTT	GCC2	ENSG00000135968.22	transcript	ENST00000309863.11	protein_coding		319		chr2	TogoVar
GCH1_chr14_54837017_54907826	54855505	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02630.hp2 NA19000.hp2 others(2): Show HG00609.hp2 HG02630.hp2 NA19000.hp2 NA19010.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0024 a0001c0001t0002g0056 a0001c0001t0002g0059 others(2): Show a0001c0001t0002g0024 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0248 a0001c0001t0008g0290	5	346	0.0145	13	c.509 others(30): Show c.509+4163_509+4175dupTTTTTTTTTTTTT	GCH1	ENSG00000131979.20	transcript	ENST00000491895.7	protein_coding	3/5			chr14	TogoVar
GCH1_chr14_54837017_54907826	54867589	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG04204.hp1 HG03492.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0278 a0001c0001t0007g0280 a0001c0001t0007g0278 a0001c0001t0007g0280	2	346	0.0058	13	c.344 others(30): Show c.344-2166_344-2154dupTTTTTTTTTTTTT	GCH1	ENSG00000131979.20	transcript	ENST00000491895.7	protein_coding	1/5			chr14	TogoVar
GCH1_chr14_54837017_54907826	54880522	T T	TATATATA others(6): Show TATATATACACTCC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0271 a0001c0001t0010g0271	1	346	0.0029	13	c.344 others(32): Show c.344-15087_344-15086insGGAGTGTATATAT	GCH1	ENSG00000131979.20	transcript	ENST00000491895.7	protein_coding	1/5			chr14	TogoVar
GCHFR_chr15_40759068_40772708	40766942	C C	CCATGGTC others(6): Show CCATGGTCAGACTA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	416	0.0024	13	c.132 others(28): Show c.132-284_132-283insCATGGTCAGACTA	GCHFR	ENSG00000137880.6	transcript	ENST00000260447.6	protein_coding	2/2			chr15	TogoVar
GCLM_chr1_93880199_93914430	93898303	G G	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0073 a0001c0001t0005g0073	1	382	0.0026	13	c.278 others(28): Show c.278-418_278-406dupTTTTTTTTTTTTT	GCLM	ENSG00000023909.10	transcript	ENST00000370238.8	protein_coding	3/6			chr1	TogoVar
GCLM_chr1_93880199_93914430	93913781	C C	CCTGCTTC others(6): Show CCTGCTTCTTGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	382	0.0026	13	c.-46 others(24): Show c.-4619_-4618insATTCAAGAAGCAG	GCLM	ENSG00000023909.10	transcript	ENST00000370238.8	protein_coding		4352		chr1	TogoVar
GCM1_chr6_53121961_53153841	53128028	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0150 a0001c0001t0030g0150	1	412	0.0024	13	c.16 others(22): Show c.165_*177dupTTTTTTTTTTTTT	GCM1	ENSG00000137270.11	transcript	ENST00000259803.8	protein_coding	6/6	177		chr6	TogoVar
GCN1_chr12_120122202_120199715	120169295	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03041.hp1 NA19030.hp1 HG02258.hp1 HG03041.hp1 NA19030.hp1	a0001 a0001	a0001c0005 a0001c0006 a0001c0009 a0001c0005 a0001c0006 a0001c0009	a0001c0005t0002 a0001c0006t0002 a0001c0009t0002 a0001c0005t0002 a0001c0006t0002 a0001c0009t0002	a0001c0005t0002g0057 a0001c0006t0002g0017 a0001c0009t0002g0026 a0001c0005t0002g0057 a0001c0006t0002g0017 a0001c0009t0002g0026	3	312	0.0096	13	c.151 others(30): Show c.1519+873_1519+874insCTTTTTTTTTTTT	GCN1	ENSG00000089154.11	transcript	ENST00000300648.7	protein_coding	15/57			chr12	TogoVar
GCNT2_chr6_10516351_10634368	10517706	G G	GGCACCCG others(6): Show GGCACCCGCCCACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0271 a0001c0001t0022g0271	1	324	0.0031	13	c.-41 others(24): Show c.-4180_-4179insGCACCCGCCCACT	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding		3644		chr6	TogoVar
GCNT2_chr6_10516351_10634368	10520264	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	324	0.0031	13	c.-16 others(24): Show c.-1622_-1621insAAAAAAAAAAAAA	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding		1086		chr6	TogoVar
GCNT2_chr6_10516351_10634368	10538431	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	324	0.0031	13	c.925 others(30): Show c.925+8595_925+8596insTATATATATATAT	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4			chr6	TogoVar
GCNT2_chr6_10516351_10634368	10617750	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA20129.hp2 HG01109.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0027 a0001c0001t0005 a0001c0001t0027	a0001c0001t0005g0213 a0001c0001t0027g0003 a0001c0001t0005g0213 a0001c0001t0027g0003	2	324	0.0062	13	c.926 others(30): Show c.926-3591_926-3579dupTTTTTTTTTTTTT	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10516351_10634368	10632552	T T	TTTTAATG others(6): Show TTTTAATGGCTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	324	0.0031	13	c.59 others(24): Show c.5945_*5946insTTTAATGGCTGCC	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding		3185		chr6	TogoVar
GCNT2_chr6_10516351_10634368	10632881	G G	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02451.hp1 others(10): Show HG01884.hp2 HG01891.hp1 HG02451.hp1 HG02451.hp2 HG02572.hp2 HG02630.hp1 HG02647.hp2 HG02896.hp1 HG03041.hp1 HG03540.hp2 NA18522.hp1 NA19030.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0017 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0017 a0001c0001t0023	a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0065 others(10): Show a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0065 a0001c0001t0001g0074 a0001c0001t0001g0105 a0001c0001t0001g0226 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0004g0035 a0001c0001t0004g0069 a0001c0001t0004g0298 a0001c0001t0017g0067 a0001c0001t0023g0313	13	324	0.0401	13	c.62 others(24): Show c.6274_*6275insAAAAAAAAAAAAA	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding		3514		chr6	TogoVar
GCNT2_chr6_10550809_10634368	10617750	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA20129.hp2 HG01109.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0010 a0001c0001t0005 a0001c0001t0010	a0001c0001t0005g0301 a0001c0001t0010g0309 a0001c0001t0005g0301 a0001c0001t0010g0309	2	344	0.0058	13	c.920 others(30): Show c.920-3591_920-3579dupTTTTTTTTTTTTT	GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10550809_10634368	10632552	T T	TTTTAATG others(6): Show TTTTAATGGCTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	344	0.0029	13	c.59 others(24): Show c.5945_*5946insTTTAATGGCTGCC	GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding		3185		chr6	TogoVar
GCNT2_chr6_10550809_10634368	10632881	G G	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02451.hp1 others(9): Show HG01884.hp2 HG01891.hp2 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02630.hp2 HG02896.hp2 HG03041.hp1 HG03540.hp1 NA18522.hp1 NA19030.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 a0001c0002t0001 a0001c0002t0003 a0002c0003t0011	a0001c0001t0001g0018 a0001c0001t0001g0090 a0001c0001t0001g0124 others(9): Show a0001c0001t0001g0018 a0001c0001t0001g0090 a0001c0001t0001g0124 a0001c0001t0001g0266 a0001c0001t0001g0292 a0001c0001t0001g0311 a0001c0001t0003g0300 a0001c0001t0003g0312 a0001c0001t0016g0334 a0001c0002t0001g0283 a0001c0002t0003g0290 a0002c0003t0011g0264	12	344	0.0349	13	c.62 others(24): Show c.6274_*6275insAAAAAAAAAAAAA	GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding		3514		chr6	TogoVar
GCNT3_chr15_59606783_59627723	59610604	T T	TCCCTCCC others(6): Show TCCCTCCCTCCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0106 a0001c0001t0004g0106	1	428	0.0023	13	c.-16 others(24): Show c.-1628_-1627insCCCTCCCTCCTTC	GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding		1178		chr15	TogoVar
GCNT3_chr15_59606783_59627723	59621586	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00423.hp2 HG02080.hp2 HG00423.hp2 HG02080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0101 a0001c0002t0103 a0001c0002t0101 a0001c0002t0103	a0001c0002t0101g0007 a0001c0002t0103g0048 a0001c0002t0101g0007 a0001c0002t0103g0048	2	428	0.0047	13	c.20 others(24): Show c.2036_*2037insTTTTTTTTTTTTT	GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding	3/3	2037	INFO_REALIGN_3_PRIME	chr15	TogoVar
GCSH_chr16_81076945_81101395	81078569	G G	GAACTTGT others(6): Show GAACTTGTGCTACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	354	0.0028	13	c.42 others(24): Show c.4296_*4297insTGTAGCACAAGTT	GCSH	ENSG00000140905.11	transcript	ENST00000315467.9	protein_coding		3375		chr16	TogoVar
GCSH_chr16_81076945_81101395	81080667	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0078 a0002c0002t0002g0078	1	354	0.0028	13	c.21 others(24): Show c.2198_*2199insAAAAAAAAAAAAA	GCSH	ENSG00000140905.11	transcript	ENST00000315467.9	protein_coding		1277		chr16	TogoVar
GDAP1L1_chr20_44242308_44285947	44276412	A A	AGAAAGAA others(6): Show AGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0319 a0001c0001t0001g0319	1	392	0.0026	13	c.761 others(30): Show c.761-2545_761-2544insGAAAGAAAGAAAG	GDAP1L1	ENSG00000124194.17	transcript	ENST00000342560.10	protein_coding	5/5			chr20	TogoVar
GDAP1L1_chr20_44242308_44285947	44276467	A A	AGAAAGAA others(6): Show AGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	392	0.0026	13	c.761 others(30): Show c.761-2490_761-2489insGAAAGAAAGAAAG	GDAP1L1	ENSG00000124194.17	transcript	ENST00000342560.10	protein_coding	5/5			chr20	TogoVar
GDF10_chr10_47295197_47318577	47296866	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG01070.hp1 HG01071.hp1 others(34): Show HG00280.hp2 HG01070.hp1 HG01071.hp1 HG01261.hp2 HG02004.hp2 HG02165.hp2 HG03492.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp2 NA18940.hp1 NA18943.hp1 NA18945.hp1 NA18952.hp2 NA18954.hp2 NA18960.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18972.hp2 NA18975.hp1 NA18978.hp2 NA18982.hp1 NA18989.hp1 NA18991.hp1 NA18995.hp1 NA19004.hp1 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19062.hp2 NA19065.hp2 NA19070.hp2 NA19081.hp1 NA19084.hp1 NA19085.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0016	a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0013 others(7): Show a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0046 a0001c0001t0001g0104 a0001c0001t0002g0051 a0001c0001t0003g0006 a0001c0001t0016g0013	37	398	0.0930	13	c.-37 others(24): Show c.-3786_-3785insTTTTTTTTTTTTT	GDF10	ENSG00000266524.3	transcript	ENST00000580279.2	protein_coding		3330		chr10	TogoVar
GDF15_chr19_18381158_18394176	18387813	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp2 HG02976.hp1 HG02976.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0026 a0004c0004t0001g0026	2	424	0.0047	13	c.278 others(28): Show c.278-459_278-447dupTTTTTTTTTTTTT	GDF15	ENSG00000130513.7	transcript	ENST00000252809.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr19	TogoVar
GDF1_chr19_18863545_18901158	18894950	C C	CCTTCCAA others(6): Show CCTTCCAACCAGCT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0230 a0003c0003t0002g0230	1	380	0.0026	13	c.-10 others(32): Show c.-1074+861_-1074+873dupAGCTGGTTGGAAG	GDF1	ENSG00000130283.9	transcript	ENST00000247005.8	protein_coding	1/7			chr19	TogoVar
GDF3_chr12_7684784_7700775	7699407	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 NA18747.hp2 HG02698.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	2	468	0.0043	13	c.-36 others(24): Show c.-3680_-3679insTTTTTTTTTTTTT	GDF3	ENSG00000184344.4	transcript	ENST00000329913.4	protein_coding		3633		chr12	TogoVar
GDF5_chr20_35428347_35443228	35438860	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01099.hp2 HG02523.hp1 others(6): Show HG00323.hp1 HG01099.hp2 HG02523.hp1 HG03491.hp1 HG03540.hp2 NA18947.hp2 NA18950.hp1 NA18956.hp1 NA19081.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0005 a0003c0004t0002 a0001c0001t0001 a0001c0001t0005 a0003c0004t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0069 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0069 a0001c0001t0005g0016 a0001c0001t0005g0066 a0003c0004t0002g0009	9	360	0.0250	13	c.-93 others(22): Show c.-933_-932insCACACACACACAC	GDF5	ENSG00000125965.9	transcript	ENST00000374369.8	protein_coding		633		chr20	TogoVar

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