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
GCNT2_chr6_10516351_10634368	10585032	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0264 a0001c0001t0002g0264	1	324	0.0031	-16	c.926 others(35): Show c.926-36287_926-36272delTGTGTGTGTGTGTGTG	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10516351_10634368	10585064	TGTGTGTG others(9): Show TGTGTGTGTGTGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02559.hp2 HG03540.hp2 HG02109.hp2 HG02559.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0018 a0001c0001t0001g0247 a0001c0001t0001g0248	3	324	0.0093	-16	c.926 others(35): Show c.926-36285_926-36270delTGTGTGTGTGTGTGCG	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10516351_10634368	10585066	TGTGTGTG others(9): Show TGTGTGTGTGTGTGCGC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02895.hp2 HG03540.hp1 HG02818.hp1 HG02895.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0073 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0073	3	324	0.0093	-16	c.926 others(35): Show c.926-36283_926-36268delTGTGTGTGTGTGCGCG	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10516351_10634368	10615697	CCACTCCA others(9): Show CCACTCCATAGACAGAG	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01175.hp1 HG01361.hp2 others(32): Show HG00735.hp2 HG01175.hp1 HG01361.hp2 HG01891.hp2 HG01978.hp2 HG02273.hp1 HG02280.hp2 HG02451.hp2 HG02572.hp2 HG02615.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp2 HG03471.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG04199.hp1 HG06807.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0021 a0001c0001t0023	a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0015 others(32): Show a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0045 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0259 a0001c0001t0001g0299 a0001c0001t0001g0317 a0001c0001t0001g0321 a0001c0001t0003g0234 a0001c0001t0004g0020 a0001c0001t0004g0253 a0001c0001t0004g0314 a0001c0001t0004g0316 a0001c0001t0005g0026 a0001c0001t0008g0219 a0001c0001t0011g0002 a0001c0001t0021g0064 a0001c0001t0023g0313	35	324	0.1080	-16	c.926 others(33): Show c.926-5651_926-5636delCTCCATAGACAGAGCA	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10550809_10634368	10563665	CCAGGAGG others(9): Show CCAGGAGGCGGAGCTTG	C C	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	344	0.0029	-16	c.919 others(33): Show c.919+6327_919+6342delGAGGCGGAGCTTGCAG	GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10550809_10634368	10563769	AAAAAAAA others(9): Show AAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0311	1	344	0.0029	-16	c.919 others(33): Show c.919+6429_919+6444delAAAAAAAATATATATA	GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10550809_10634368	10563771	AAAAAAAA others(9): Show AAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02896.hp2 HG02622.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0310 a0001c0001t0003g0300 a0001c0001t0001g0310 a0001c0001t0003g0300	2	344	0.0058	-16	c.919 others(33): Show c.919+6431_919+6446delAAAAAATATATATATA	GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10550809_10634368	10563773	AAAAAATA others(9): Show AAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0276 a0001c0001t0004g0276	1	344	0.0029	-16	c.919 others(33): Show c.919+6433_919+6448delAAAATATATATATATA	GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10550809_10634368	10585028	AGTCAGTG others(9): Show AGTCAGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG02451.hp2 others(11): Show HG01884.hp1 HG02109.hp1 HG02451.hp2 HG02486.hp2 HG02622.hp2 HG02717.hp2 HG02922.hp1 HG03041.hp2 HG03130.hp1 HG03471.hp2 HG03486.hp2 NA19030.hp2 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0016	a0001c0001t0001g0095 a0001c0001t0001g0310 a0001c0001t0001g0313 others(11): Show a0001c0001t0001g0095 a0001c0001t0001g0310 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0316 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0327 a0001c0001t0003g0312 a0001c0001t0005g0045 a0001c0001t0007g0016 a0001c0001t0010g0309 a0001c0001t0016g0334	14	344	0.0407	-16	c.919 others(35): Show c.919+27689_919+27704delCAGTGTGTGTGTGTGT	GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10550809_10634368	10585032	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0166	1	344	0.0029	-16	c.919 others(35): Show c.919+27722_919+27737delTGTGTGTGTGTGTGTG	GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10550809_10634368	10585064	TGTGTGTG others(9): Show TGTGTGTGTGTGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02559.hp2 HG03540.hp1 HG02109.hp2 HG02559.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0311 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0311	3	344	0.0087	-16	c.919 others(35): Show c.919+27724_919+27739delTGTGTGTGTGTGTGCG	GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10550809_10634368	10585066	TGTGTGTG others(9): Show TGTGTGTGTGTGTGCGC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02895.hp2 HG03540.hp2 HG02818.hp2 HG02895.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0001g0091 a0001c0001t0001g0318 a0001c0001t0001g0320	3	344	0.0087	-16	c.919 others(35): Show c.919+27726_919+27741delTGTGTGTGTGTGCGCG	GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10550809_10634368	10615697	CCACTCCA others(9): Show CCACTCCATAGACAGAG	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01070.hp2 HG01175.hp2 others(33): Show HG00735.hp2 HG01070.hp2 HG01175.hp2 HG01358.hp1 HG01361.hp1 HG01891.hp1 HG01978.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02572.hp1 HG02615.hp2 HG02698.hp2 HG02717.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03471.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG04199.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0002t0001 a0001c0004t0003 a0002c0003t0001 a0002c0003t0010 a0002c0003t0011	a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0018 others(33): Show a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0088 a0001c0001t0001g0103 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0213 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0280 a0001c0001t0001g0288 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0311 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0001g0333 a0001c0001t0003g0032 a0001c0001t0003g0238 a0001c0001t0004g0268 a0001c0001t0005g0326 a0001c0001t0007g0016 a0001c0002t0001g0284 a0001c0004t0003g0328 a0001c0004t0003g0330 a0002c0003t0001g0269 a0002c0003t0010g0270 a0002c0003t0011g0264	36	344	0.1047	-16	c.920 others(33): Show c.920-5651_920-5636delCTCCATAGACAGAGCA	GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT3_chr15_59606783_59627723	59610144	GGCCTGCC others(9): Show GGCCTGCCTGCCTGCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02257.hp2 HG02647.hp1 HG01891.hp1 HG02257.hp2 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0106 a0001c0002t0034 a0001c0002t0106	a0001c0002t0034g0112 a0001c0002t0034g0113 a0001c0002t0106g0109 a0001c0002t0034g0112 a0001c0002t0034g0113 a0001c0002t0106g0109	3	428	0.0070	-16	c.-20 others(27): Show c.-2087_-2072delGCCTGCCTGCCTGCCT	GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding		1638		chr15	TogoVar
GCNT3_chr15_59606783_59627723	59610197	GCCTTCCT others(9): Show GCCTTCCTTCCTTCCTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00597.hp1 HG00621.hp2 others(41): Show HG00280.hp2 HG00597.hp1 HG00621.hp2 HG00642.hp1 HG00733.hp1 HG00738.hp1 HG01109.hp1 HG01123.hp2 HG01243.hp1 HG01257.hp2 HG01261.hp1 HG01433.hp1 HG01496.hp1 HG01928.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02083.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02615.hp1 HG02647.hp2 HG02683.hp2 HG02818.hp2 HG02965.hp2 HG03098.hp1 HG03195.hp1 HG03516.hp1 HG03688.hp2 HG04184.hp2 NA18943.hp2 NA18954.hp1 NA18956.hp1 NA18962.hp1 NA18977.hp2 NA18990.hp2 NA19004.hp1 NA19004.hp2 NA19043.hp1 NA19077.hp2 NA19085.hp1 NA19088.hp2 NA20752.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0011 a0001c0001 a0005c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0015 a0001c0001t0017 a0001c0001t0022 a0001c0001t0027 a0001c0001t0045 a0001c0001t0051 a0001c0001t0052 a0001c0001t0058 a0001c0001t0066 a0001c0001t0074 a0001c0001t0089 a0005c0011t0050	a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0026 others(35): Show a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0042 a0001c0001t0001g0083 a0001c0001t0001g0105 a0001c0001t0002g0019 a0001c0001t0002g0026 a0001c0001t0002g0092 a0001c0001t0003g0001 a0001c0001t0003g0005 a0001c0001t0003g0009 a0001c0001t0003g0015 a0001c0001t0003g0023 a0001c0001t0003g0051 a0001c0001t0004g0001 a0001c0001t0004g0003 a0001c0001t0004g0006 a0001c0001t0004g0024 a0001c0001t0004g0042 a0001c0001t0004g0065 a0001c0001t0004g0101 a0001c0001t0006g0003 a0001c0001t0006g0078 a0001c0001t0010g0081 a0001c0001t0015g0003 a0001c0001t0017g0009 a0001c0001t0017g0022 a0001c0001t0022g0001 a0001c0001t0027g0097 a0001c0001t0045g0104 a0001c0001t0051g0052 a0001c0001t0052g0086 a0001c0001t0058g0001 a0001c0001t0066g0001 a0001c0001t0074g0004 a0001c0001t0089g0004 a0005c0011t0050g0055	44	428	0.1028	-16	c.-20 others(27): Show c.-2034_-2019delCCTTCCTTCCTTCCTT	GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding		1585		chr15	TogoVar
GCNT3_chr15_59606783_59627723	59611088	CCCCCTCC others(9): Show CCCCCTCCCCTTCTCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 NA18972.hp2 HG02055.hp1 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0087 a0001c0001t0078 a0001c0001t0087	a0001c0001t0078g0016 a0001c0001t0087g0004 a0001c0001t0078g0016 a0001c0001t0087g0004	2	428	0.0047	-16	c.-11 others(27): Show c.-1143_-1128delCCCCTCCCCTTCTCCT	GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding		694		chr15	TogoVar
GCNT3_chr15_59606783_59627723	59611166	TTCTCCTC others(9): Show TTCTCCTCCCCTCCCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG03453.hp2 HG03669.hp1 others(1): Show HG02572.hp1 HG03453.hp2 HG03669.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0001t0035 a0001c0001t0036 others(1): Show a0001c0001t0014 a0001c0001t0035 a0001c0001t0036 a0001c0002t0098	a0001c0001t0014g0002 a0001c0001t0035g0028 a0001c0001t0036g0028 others(1): Show a0001c0001t0014g0002 a0001c0001t0035g0028 a0001c0001t0036g0028 a0001c0002t0098g0002	4	428	0.0094	-16	c.-10 others(27): Show c.-1065_-1050delTCTCCTCCCCTCCCCC	GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding		616		chr15	TogoVar
GCNT4_chr5_75020346_75057558	75032872	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02615.hp2 NA19087.hp2 others(1): Show HG02273.hp1 HG02615.hp2 NA19087.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0048 a0002c0002t0014 a0002c0002t0019 others(1): Show a0001c0001t0048 a0002c0002t0014 a0002c0002t0019 a0002c0002t0053	a0001c0001t0048g0239 a0002c0002t0014g0271 a0002c0002t0019g0287 others(1): Show a0001c0001t0048g0239 a0002c0002t0014g0271 a0002c0002t0019g0287 a0002c0002t0053g0218	4	382	0.0105	-16	c.-1- others(31): Show c.-1-2850_-1-2835delACACACACACACACAC	GCNT4	ENSG00000176928.7	transcript	ENST00000652361.2	protein_coding	3/3			chr5	TogoVar
GCSH_chr16_81076945_81101395	81079749	AAAAAAAA others(9): Show AAAAAAAAAAGAAAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00621.hp2 others(47): Show HG00323.hp1 HG00423.hp1 HG00621.hp2 HG00735.hp2 HG01070.hp2 HG01081.hp1 HG01346.hp1 HG01993.hp1 HG02015.hp2 HG02071.hp1 HG02074.hp2 HG02165.hp1 HG02258.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02809.hp2 HG03098.hp2 HG03471.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03942.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18941.hp2 NA18947.hp1 NA18948.hp1 NA18959.hp1 NA18965.hp1 NA18968.hp2 NA18978.hp1 NA18984.hp1 NA18988.hp1 NA18991.hp1 NA18995.hp1 NA18997.hp2 NA19004.hp1 NA19054.hp1 NA19057.hp2 NA19064.hp2 NA19068.hp1 NA19074.hp2 NA19081.hp2 NA19082.hp1 NA19085.hp1 NA19088.hp1 NA19090.hp1 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0004 others(1): Show a0001c0001 a0002c0002 a0002c0004 a0003c0003	a0001c0001t0002 a0002c0002t0002 a0002c0002t0014 others(2): Show a0001c0001t0002 a0002c0002t0002 a0002c0002t0014 a0002c0004t0002 a0003c0003t0004	a0001c0001t0002g0119 a0001c0001t0002g0135 a0001c0001t0002g0144 others(18): Show a0001c0001t0002g0119 a0001c0001t0002g0135 a0001c0001t0002g0144 a0002c0002t0002g0002 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0028 a0002c0002t0002g0074 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0014g0073 a0002c0004t0002g0014 a0002c0004t0002g0029 a0002c0004t0002g0031 a0002c0004t0002g0032 a0002c0004t0002g0085 a0002c0004t0002g0086 a0003c0003t0004g0042	50	354	0.1412	-16	c.31 others(27): Show c.3101_*3116delCTTTTTCTTTTTTTTT	GCSH	ENSG00000140905.11	transcript	ENST00000315467.9	protein_coding		2195		chr16	TogoVar
GCSH_chr16_81076945_81101395	81093967	TCTAGGCT others(9): Show TCTAGGCTCGCTGCAAC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0085 a0002c0004t0002g0085	1	354	0.0028	-16	c.148 others(33): Show c.148+2148_148+2163delGTTGCAGCGAGCCTAG	GCSH	ENSG00000140905.11	transcript	ENST00000315467.9	protein_coding	1/4			chr16	TogoVar
GDAP1L1_chr20_44242308_44285947	44276412	AAAAGAAA others(9): Show AAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	392	0.0026	-16	c.761 others(33): Show c.761-2505_761-2490delGAAAGAAAGAAAGAAA	GDAP1L1	ENSG00000124194.17	transcript	ENST00000342560.10	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
GDAP1_chr8_74345403_74371876	74356676	GTGTGTGT others(9): Show GTGTGTGTGTGTGTGTT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	430	0.0023	-16	c.311 others(33): Show c.311-3449_311-3434delGTGTTTGTGTGTGTGT	GDAP1	ENSG00000104381.14	transcript	ENST00000220822.12	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
GDA_chr9_72144440_72257224	72148309	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02622.hp1 HG03041.hp1 others(2): Show HG02280.hp2 HG02622.hp1 HG03041.hp1 HG03453.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 others(2): Show a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305	5	312	0.0160	-16	c.-12 others(27): Show c.-1250_-1235delTGTGTGTGTGTGTGTG	GDA	ENSG00000119125.17	transcript	ENST00000358399.8	protein_coding		1130		chr9	TogoVar
GDE1_chr16_19496693_19527098	19507141	AAAATAAA others(9): Show AAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0048 a0001c0001t0014g0048	1	398	0.0025	-16	c.636 others(31): Show c.636+530_636+545delATTTATTTATTTATTT	GDE1	ENSG00000006007.12	transcript	ENST00000353258.8	protein_coding	4/5			chr16	TogoVar
GDE1_chr16_19496693_19527098	19511685	ACCAAATT others(9): Show ACCAAATTCTCCTTATT	A A	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0096 a0001c0001t0005g0096	1	398	0.0025	-16	c.438 others(31): Show c.438-757_438-742delAATAAGGAGAATTTGG	GDE1	ENSG00000006007.12	transcript	ENST00000353258.8	protein_coding	2/5			chr16	TogoVar
GDF1_chr19_18863545_18901158	18897899	TTCAAGGG others(9): Show TTCAAGGGATTCTCCTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0170 a0002c0002t0003g0170	1	380	0.0026	-16	c.-31 others(27): Show c.-3165_-3150delCAGGAGAATCCCTTGA	GDF1	ENSG00000130283.9	transcript	ENST00000247005.8	protein_coding		1742		chr19	TogoVar
GDF1_chr19_18863545_18901158	18898645	CCTACCAG others(9): Show CCTACCAGGCTGGGGGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0009 a0002c0002t0002g0009	1	380	0.0026	-16	c.-39 others(27): Show c.-3911_-3896delACCCCCAGCCTGGTAG	GDF1	ENSG00000130283.9	transcript	ENST00000247005.8	protein_coding		2488		chr19	TogoVar
GDF5_chr20_35428347_35443228	35435450	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00673.hp1 HG00673.hp2 others(50): Show HG00408.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG01243.hp2 HG01261.hp2 HG01361.hp1 HG01891.hp2 HG01975.hp2 HG02109.hp2 HG02135.hp2 HG02258.hp1 HG02280.hp1 HG02683.hp1 HG02683.hp2 HG02738.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03491.hp1 HG03516.hp2 HG03669.hp2 HG03942.hp2 HG04115.hp2 NA18612.hp1 NA18612.hp2 NA18940.hp1 NA18940.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18956.hp1 NA18961.hp2 NA18979.hp2 NA18983.hp2 NA18984.hp1 NA18994.hp1 NA19000.hp2 NA19009.hp1 NA19009.hp2 NA19060.hp1 NA19064.hp2 NA19066.hp2 NA19077.hp1 NA19077.hp2 NA19087.hp1 NA19090.hp2 NA20300.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 a0002c0002t0007 a0003c0004t0002	a0001c0001t0001g0002 a0001c0001t0001g0069 a0001c0001t0001g0072 others(7): Show a0001c0001t0001g0002 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0002g0015 a0001c0001t0008g0046 a0001c0001t0011g0075 a0002c0002t0007g0024 a0003c0004t0002g0020 a0003c0004t0002g0037	53	360	0.1472	-16	c.632 others(31): Show c.632-683_632-668delTTTTTTTTTTTTTTTT	GDF5	ENSG00000125965.9	transcript	ENST00000374369.8	protein_coding	1/1			chr20	TogoVar
GDF6_chr8_96137333_96165806	96144244	TAGAGAGA others(9): Show TAGAGAGAGAGAGAGAG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03669.hp2 NA20905.hp1 HG03669.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0024 a0001c0001t0045g0024	2	368	0.0054	-16	c.30 others(25): Show c.303_*318delCTCTCTCTCTCTCTCT	GDF6	ENSG00000156466.11	transcript	ENST00000287020.7	protein_coding	2/2	303		chr8	TogoVar
GDI2_chr10_5760223_5818434	5794188	AATATATA others(9): Show AATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA19000.hp2 NA19065.hp2 HG00558.hp2 NA19000.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0160 a0001c0001t0001g0181 a0001c0001t0001g0129 a0001c0001t0001g0160 a0001c0001t0001g0181	3	398	0.0075	-16	c.388 others(31): Show c.388+681_388+696delATATATATATATATAT	GDI2	ENSG00000057608.17	transcript	ENST00000380191.9	protein_coding	4/10			chr10	TogoVar
GDPD3_chr16_30099810_30118537	30099845	TACACACA others(9): Show TACACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	390	0.0026	-16	c.50 others(27): Show c.5011_*5026delGTGTGTGTGTGTGTGT	GDPD3	ENSG00000102886.15	transcript	ENST00000406256.8	protein_coding		4964		chr16	TogoVar
GDPD4_chr11_77211558_77306686	77304988	TCACACAC others(9): Show TCACACACACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0117 a0002c0002t0003g0117	1	350	0.0029	-16	c.-36 others(27): Show c.-3653_-3638delTGTGTGTGTGTGTGTG	GDPD4	ENSG00000178795.10	transcript	ENST00000315938.5	protein_coding		3303		chr11	TogoVar
GDPD5_chr11_75429640_75530941	75485510	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03130.hp2 HG03139.hp2 others(1): Show HG01891.hp2 HG03130.hp2 HG03139.hp2 HG03471.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0001 a0001c0004t0002g0001	4	322	0.0124	-16	c.-61 others(33): Show c.-61+4711_-61+4726delGTGTGTGTGTGTGTGT	GDPD5	ENSG00000158555.15	transcript	ENST00000336898.8	protein_coding	2/16			chr11	TogoVar
GDPGP1_chr15_90229209_90250811	90243640	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG02129.hp2 others(6): Show HG01257.hp2 HG01258.hp2 HG02129.hp2 NA18612.hp2 NA18957.hp2 NA18983.hp1 NA19001.hp2 NA19010.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0042 a0001c0001t0065 a0001c0001t0010 a0001c0001t0042 a0001c0001t0065	a0001c0001t0010g0003 a0001c0001t0010g0029 a0001c0001t0010g0077 others(2): Show a0001c0001t0010g0003 a0001c0001t0010g0029 a0001c0001t0010g0077 a0001c0001t0042g0005 a0001c0001t0065g0003	9	438	0.0206	-16	c.15 others(27): Show c.1589_*1604delTTTTTTTTTTTTTTTT	GDPGP1	ENSG00000183208.13	transcript	ENST00000329600.8	protein_coding	4/4	1589	INFO_REALIGN_3_PRIME	chr15	TogoVar
GDPGP1_chr15_90229209_90250811	90246787	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02965.hp1 NA19070.hp1 HG02895.hp1 HG02965.hp1 NA19070.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0003 a0004c0004t0011 a0004c0004t0097 a0001c0001t0003 a0004c0004t0011 a0004c0004t0097	a0001c0001t0003g0005 a0004c0004t0011g0010 a0004c0004t0097g0010 a0001c0001t0003g0005 a0004c0004t0011g0010 a0004c0004t0097g0010	3	438	0.0069	-16	c.47 others(27): Show c.4722_*4737delAAAAAAAAAAAAAAAA	GDPGP1	ENSG00000183208.13	transcript	ENST00000329600.8	protein_coding		977		chr15	TogoVar
GDPGP1_chr15_90229209_90250811	90248718	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01496.hp1 HG02145.hp2 others(13): Show HG01346.hp2 HG01496.hp1 HG02145.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp1 HG03041.hp1 HG03486.hp1 NA19060.hp1 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0015 a0003c0003 others(1): Show a0001c0001 a0001c0015 a0003c0003 a0004c0004	a0001c0001t0002 a0001c0015t0099 a0003c0003t0005 others(7): Show a0001c0001t0002 a0001c0015t0099 a0003c0003t0005 a0003c0003t0031 a0003c0003t0135 a0004c0004t0011 a0004c0004t0096 a0004c0004t0097 a0004c0004t0098 a0004c0004t0104	a0001c0001t0002g0017 a0001c0015t0099g0069 a0003c0003t0005g0007 others(8): Show a0001c0001t0002g0017 a0001c0015t0099g0069 a0003c0003t0005g0007 a0003c0003t0031g0032 a0003c0003t0135g0032 a0004c0004t0011g0010 a0004c0004t0011g0037 a0004c0004t0096g0068 a0004c0004t0097g0010 a0004c0004t0098g0010 a0004c0004t0104g0037	16	438	0.0365	-16	c.66 others(27): Show c.6653_*6668delAAAAAAAAAAAAAAAA	GDPGP1	ENSG00000183208.13	transcript	ENST00000329600.8	protein_coding		2908		chr15	TogoVar
GEMIN2_chr14_39109323_39141973	39141576	GGCCCCAC others(9): Show GGCCCCACACCTGCAGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00621.hp2 HG00673.hp1 others(38): Show HG00597.hp2 HG00621.hp2 HG00673.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01071.hp2 HG01109.hp2 HG01123.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01975.hp1 HG01981.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02155.hp2 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG04204.hp2 NA18939.hp2 NA18945.hp2 NA18960.hp1 NA18968.hp2 NA18974.hp1 NA18990.hp2 NA18993.hp2 NA18998.hp2 NA18999.hp2 NA19009.hp2 NA19012.hp1 NA19058.hp1 NA19060.hp1 NA19063.hp2 NA19064.hp1 NA19066.hp2 NA19090.hp1 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0031 a0001c0001t0001g0270 others(36): Show a0001c0001t0001g0011 a0001c0001t0001g0031 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335	41	424	0.0967	-16	c.50 others(27): Show c.5098_*5113delGCCCCACACCTGCAGC	GEMIN2	ENSG00000092208.19	transcript	ENST00000308317.12	protein_coding		4604		chr14	TogoVar
GEMIN6_chr2_38773210_38790002	38773412	GCCTCCCT others(9): Show GCCTCCCTCCCTCCCTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0051 a0001c0001t0008g0051	1	412	0.0024	-16	c.-48 others(27): Show c.-4888_-4873delCCTCCCTCCCTCCCTC	GEMIN6	ENSG00000152147.11	transcript	ENST00000281950.8	protein_coding		4797		chr2	TogoVar
GEMIN6_chr2_38773210_38790002	38773781	CTCTTTCT others(9): Show CTCTTTCTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01070.hp1 HG01106.hp2 others(19): Show HG00323.hp2 HG01070.hp1 HG01106.hp2 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01516.hp1 HG02040.hp2 HG02523.hp2 HG03139.hp1 HG03540.hp1 NA18906.hp1 NA18943.hp1 NA18953.hp2 NA18967.hp1 NA19068.hp1 NA19079.hp1 NA19079.hp2 NA19090.hp1 NA20300.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0030 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0030 a0001c0001t0053 a0001c0005t0001 a0002c0002t0001 a0002c0002t0006 a0002c0002t0060 a0002c0002t0061	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0116 a0001c0001t0003g0009 a0001c0001t0030g0016 a0001c0001t0053g0001 a0001c0005t0001g0003 a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0019 a0002c0002t0001g0046 a0002c0002t0001g0103 a0002c0002t0006g0038 a0002c0002t0060g0001 a0002c0002t0061g0038	22	412	0.0534	-16	c.-45 others(27): Show c.-4519_-4504delTCTTTCTTTCTTTCTT	GEMIN6	ENSG00000152147.11	transcript	ENST00000281950.8	protein_coding		4428		chr2	TogoVar
GEMIN6_chr2_38773210_38790002	38773821	TTCTTTCT others(9): Show TTCTTTCTTTCTTTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	412	0.0024	-16	c.-44 others(27): Show c.-4479_-4464delTCTTTCTTTCTTTCTC	GEMIN6	ENSG00000152147.11	transcript	ENST00000281950.8	protein_coding		4388		chr2	TogoVar
GEMIN6_chr2_38773210_38790002	38779636	CTATATAT others(9): Show CTATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp1 HG01884.hp2 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0051 a0001c0001t0008g0051	2	412	0.0049	-16	c.128 others(31): Show c.128+532_128+547delATATATATATATATAT	GEMIN6	ENSG00000152147.11	transcript	ENST00000281950.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
GEMIN6_chr2_38773210_38790002	38779654	ATATATAT others(9): Show ATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0052 a0001c0001t0034g0052	1	412	0.0024	-16	c.128 others(31): Show c.128+538_128+553delATATATATATTTTTTT	GEMIN6	ENSG00000152147.11	transcript	ENST00000281950.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
GEMIN6_chr2_38773210_38790002	38779656	ATATATAT others(9): Show ATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	412	0.0024	-16	c.128 others(31): Show c.128+540_128+555delATATATATTTTTTTTT	GEMIN6	ENSG00000152147.11	transcript	ENST00000281950.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
GEMIN8_chrX_14001726_14034892	14019723	TATATAAA others(9): Show TATATAAAATGAGTTTA	T T	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	273	0.0037	-16	c.472 others(31): Show c.472+339_472+354delTAAACTCATTTTATAT	GEMIN8	ENSG00000046647.14	transcript	ENST00000680255.1	protein_coding	4/4			chrX	TogoVar
GEMIN8_chrX_14001726_14034892	14021814	GTATATAT others(9): Show GTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00733.hp2 HG01069.hp1 others(46): Show HG00280.hp1 HG00733.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01261.hp1 HG01975.hp1 HG01993.hp1 HG02004.hp2 HG02257.hp1 HG02280.hp2 HG02451.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02738.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03239.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG03704.hp1 HG03831.hp2 HG04204.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 a0001c0001 a0001c0005 a0001c0006	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0014 a0001c0005t0004 a0001c0006t0002	a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0009 others(30): Show a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0016 a0001c0001t0002g0029 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0004g0005 a0001c0001t0004g0174 a0001c0001t0004g0176 a0001c0001t0005g0027 a0001c0001t0005g0162 a0001c0001t0005g0164 a0001c0001t0010g0183 a0001c0001t0014g0041 a0001c0005t0004g0177 a0001c0006t0002g0163	49	273	0.1795	-16	c.-33 others(31): Show c.-33-319_-33-304delTATATATATATATATA	GEMIN8	ENSG00000046647.14	transcript	ENST00000680255.1	protein_coding	2/4			chrX	TogoVar
GEN1_chr2_17749138_17793946	17778416	GTGTGTAC others(9): Show GTGTGTACATATATGTA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0047 a0003c0003t0003g0047	1	318	0.0031	-16	c.126 others(33): Show c.1264+355_1264+370delGTGTACATATATGTAT	GEN1	ENSG00000178295.15	transcript	ENST00000381254.7	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
GET1_chr21_39375326_39402889	39378582	CCTTTCTT others(9): Show CCTTTCTTTCTTTCTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(34): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00544.hp1 HG00639.hp1 HG00735.hp2 HG01071.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp2 HG01257.hp2 HG01433.hp2 HG01975.hp2 HG01981.hp1 HG02080.hp1 HG02148.hp2 HG02559.hp2 HG02602.hp2 HG02647.hp1 HG02647.hp2 HG02886.hp2 HG02976.hp1 HG03017.hp2 HG03669.hp1 HG04199.hp1 HG04204.hp2 NA18906.hp1 NA18939.hp2 NA18942.hp2 NA18946.hp2 NA18968.hp1 NA18975.hp1 NA18980.hp1 NA18982.hp2 NA19054.hp2 NA19063.hp2 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0016 a0002c0002t0005 a0002c0002t0008	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0098 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0124 a0001c0001t0001g0145 a0001c0001t0002g0009 a0001c0001t0002g0143 a0001c0001t0010g0001 a0001c0001t0016g0001 a0002c0002t0005g0087 a0002c0002t0008g0042	37	338	0.1095	-16	c.-18 others(27): Show c.-1802_-1787delCTTTCTTTCTTTCTTT	GET1	ENSG00000182093.16	transcript	ENST00000649170.1	protein_coding		1743		chr21	TogoVar
GET4_chr7_871554_901436	876521	CCCGACTG others(9): Show CCCGACTGCGCGCGACT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG04204.hp1 HG02698.hp2 HG04204.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0244 a0001c0003t0002g0252 a0001c0003t0002g0244 a0001c0003t0002g0252	2	384	0.0052	-16	c.-12 others(25): Show c.-124_-109delCCGACTGCGCGCGACT	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding		32		chr7	TogoVar
GFM2_chr5_74716206_74772117	74728748	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02615.hp2 HG02723.hp2 others(9): Show HG02559.hp1 HG02615.hp2 HG02723.hp2 HG02886.hp2 HG02976.hp2 HG03130.hp1 HG03139.hp1 HG03453.hp1 HG03486.hp1 HG03579.hp1 NA19030.hp2 NA20300.hp1	a0002 a0012 a0002 a0012	a0002c0006 a0012c0019 a0002c0006 a0012c0019	a0002c0006t0001 a0012c0019t0001 a0002c0006t0001 a0012c0019t0001	a0002c0006t0001g0127 a0002c0006t0001g0132 a0002c0006t0001g0135 others(9): Show a0002c0006t0001g0127 a0002c0006t0001g0132 a0002c0006t0001g0135 a0002c0006t0001g0136 a0002c0006t0001g0137 a0002c0006t0001g0138 a0002c0006t0001g0139 a0002c0006t0001g0140 a0002c0006t0001g0141 a0002c0006t0001g0142 a0002c0006t0001g0143 a0012c0019t0001g0144	12	372	0.0323	-16	c.172 others(35): Show c.1726+1496_1726+1511delAAAAAAAAAAAAAAAA	GFM2	ENSG00000164347.18	transcript	ENST00000296805.8	protein_coding	17/20			chr5	TogoVar
GFM2_chr5_74716206_74772117	74760074	AAGGCAGT others(9): Show AAGGCAGTTACATTTGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	372	0.0027	-16	c.149 others(31): Show c.149-664_149-649delACAAATGTAACTGCCT	GFM2	ENSG00000164347.18	transcript	ENST00000296805.8	protein_coding	3/20			chr5	TogoVar

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