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
GPC3_chrX_133530745_133990594	133540915	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	152	0.0066	-14	c.157 others(33): Show c.1574-4636_1574-4623delACACACACACACAC	GPC3	ENSG00000147257.16	transcript	ENST00000370818.8	protein_coding	7/7			chrX	TogoVar
GPC3_chrX_133530745_133990594	133661568	TTCTCTCT others(7): Show TTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02109.hp1 HG01943.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0085 a0001c0001t0001g0076 a0001c0001t0001g0085	2	152	0.0132	-14	c.141 others(31): Show c.1413+148_1413+161delGAGAGAGAGAGAGA	GPC3	ENSG00000147257.16	transcript	ENST00000370818.8	protein_coding	6/7			chrX	TogoVar
GPC3_chrX_133530745_133990594	133661621	TCTCTCTC others(7): Show TCTCTCTCTCTCTCC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03130.hp1 HG06807.hp1 HG02572.hp1 HG03130.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0002 a0001c0002t0005	a0001c0002t0002g0061 a0001c0002t0002g0063 a0001c0002t0005g0060 a0001c0002t0002g0061 a0001c0002t0002g0063 a0001c0002t0005g0060	3	152	0.0197	-14	c.141 others(30): Show c.1413+95_1413+108delGGAGAGAGAGAGAG	GPC3	ENSG00000147257.16	transcript	ENST00000370818.8	protein_coding	6/7			chrX	TogoVar
GPC3_chrX_133530745_133990594	133661636	CCCCCCCC others(7): Show CCCCCCCCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	152	0.0066	-14	c.141 others(29): Show c.1413+80_1413+93delAGAGAGAGGGGGGG	GPC3	ENSG00000147257.16	transcript	ENST00000370818.8	protein_coding	6/7			chrX	TogoVar
GPC3_chrX_133530745_133990594	133693156	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03516.hp1 HG02572.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0005 a0001c0001t0001 a0001c0002t0005	a0001c0001t0001g0016 a0001c0002t0005g0060 a0001c0001t0001g0016 a0001c0002t0005g0060	2	152	0.0132	-14	c.116 others(31): Show c.1167-676_1167-663delACACACACACACAC	GPC3	ENSG00000147257.16	transcript	ENST00000370818.8	protein_coding	4/7			chrX	TogoVar
GPC4_chrX_133295103_133420489	133344191	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0163 a0001c0001t0003g0163	1	221	0.0045	-14	c.161 others(31): Show c.161-4864_161-4851delAAAAAAAAAAAAAA	GPC4	ENSG00000076716.9	transcript	ENST00000370828.4	protein_coding	1/8			chrX	TogoVar
GPC4_chrX_133295103_133420489	133409320	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	221	0.0045	-14	c.160 others(31): Show c.160+5472_160+5485delTTTTTTTTTTTTTT	GPC4	ENSG00000076716.9	transcript	ENST00000370828.4	protein_coding	1/8			chrX	TogoVar
GPC5_chr13_91393621_92872237	91478812	TATATATA others(7): Show TATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	42	0.0238	-14	c.325 others(33): Show c.325+29892_325+29905delTATATATATACACA	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC5_chr13_91393621_92872237	91586499	GATATATA others(7): Show GATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03471.hp1 HG03579.hp2 HG02622.hp2 HG03471.hp1 HG03579.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0004 a0003c0003 a0004c0006 a0001c0004 a0003c0003 a0004c0006	a0001c0004t0001 a0003c0003t0002 a0004c0006t0001 a0001c0004t0001 a0003c0003t0002 a0004c0006t0001	a0001c0004t0001g0017 a0003c0003t0002g0016 a0004c0006t0001g0028 a0001c0004t0001g0017 a0003c0003t0002g0016 a0004c0006t0001g0028	3	42	0.0714	-14	c.326 others(35): Show c.326-106639_326-106626delATATATATATATAT	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC5_chr13_91393621_92872237	91600305	CAGAGAGA others(7): Show CAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	42	0.0238	-14	c.326 others(33): Show c.326-92851_326-92838delAGAGAGAGAGAGAG	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC5_chr13_91393621_92872237	91689218	TATATATA others(7): Show TATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0008	1	42	0.0238	-14	c.326 others(31): Show c.326-3967_326-3954delTATATATATATACA	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC5_chr13_91393621_92872237	91864630	TACTTTTA others(7): Show TACTTTTAAGTAATA	T T	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03540.hp1 HG03471.hp2 HG03540.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0020 a0003c0003t0001g0010 a0001c0001t0001g0020 a0003c0003t0001g0010	2	42	0.0476	-14	c.128 others(35): Show c.1281-43306_1281-43293delACTTTTAAGTAATA	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	5/7			chr13	TogoVar
GPC5_chr13_91393621_92872237	91959057	AACACACA others(7): Show AACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	42	0.0238	-14	c.140 others(35): Show c.1401+51032_1401+51045delCACACACACACACA	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC5_chr13_91393621_92872237	92161956	CATATATA others(7): Show CATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03486.hp2 HG03239.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0036 a0001c0001t0003g0002 a0001c0001t0002g0036 a0001c0001t0003g0002	2	42	0.0476	-14	c.156 others(35): Show c.1561+16994_1561+17007delATATATATATATAT	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC5_chr13_91393621_92872237	92166948	TCTCTCTC others(7): Show TCTCTCTCTCACACA	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0008	1	42	0.0238	-14	c.156 others(35): Show c.1561+21961_1561+21974delTCTCTCTCACACAC	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC5_chr13_91393621_92872237	92166950	TCTCTCTC others(7): Show TCTCTCTCACACACA	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	42	0.0238	-14	c.156 others(35): Show c.1561+21963_1561+21976delTCTCTCACACACAC	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC5_chr13_91393621_92872237	92264876	CTCTGTGT others(7): Show CTCTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03471.hp2 HG01261.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0020 a0001c0001t0001g0005 a0001c0001t0001g0020	2	42	0.0476	-14	c.156 others(37): Show c.1561+119889_1561+119902delCTGTGTGTGTGTGT	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC5_chr13_91393621_92872237	92264878	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03486.hp2 HG03579.hp2 HG02280.hp2 HG03486.hp2 HG03579.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0002 a0002c0002t0004 a0003c0003t0002 a0001c0001t0002 a0002c0002t0004 a0003c0003t0002	a0001c0001t0002g0036 a0002c0002t0004g0026 a0003c0003t0002g0016 a0001c0001t0002g0036 a0002c0002t0004g0026 a0003c0003t0002g0016	3	42	0.0714	-14	c.156 others(37): Show c.1561+119923_1561+119936delGTGTGTGTGTGTGT	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC5_chr13_91393621_92872237	92525437	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp2 HG02896.hp2 HG01261.hp1 HG01261.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0005 a0001c0001t0002g0037 a0001c0001t0003g0004 a0001c0001t0001g0005 a0001c0001t0002g0037 a0001c0001t0003g0004	3	42	0.0714	-14	c.156 others(37): Show c.1562-340815_1562-340802delTGTGTGTGTGTGTG	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC5_chr13_91393621_92872237	92527235	AAGAAAGA others(7): Show AAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	42	0.0238	-14	c.156 others(37): Show c.1562-339031_1562-339018delGAAAGAAAGAAAGA	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC5_chr13_91393621_92872237	92579266	CCTCCCTC others(7): Show CCTCCCTCCCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02258.hp2 HG02615.hp2 others(2): Show HG01109.hp2 HG02258.hp2 HG02615.hp2 HG02897.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0001t0001 a0001c0001t0002 a0001c0004t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0025 others(2): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0025 a0001c0001t0002g0034 a0001c0004t0001g0024	5	42	0.1191	-14	c.156 others(37): Show c.1562-287012_1562-286999delCCTCCCTCTCTCTC	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC5_chr13_91393621_92872237	92613657	TTATATAT others(7): Show TTATATATTTTATTA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02922.hp1 HG06807.hp1 HG02622.hp2 HG02922.hp1 HG06807.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0004c0006t0001 a0001c0001t0001 a0001c0001t0002 a0004c0006t0001	a0001c0001t0001g0033 a0001c0001t0002g0042 a0004c0006t0001g0028 a0001c0001t0001g0033 a0001c0001t0002g0042 a0004c0006t0001g0028	3	42	0.0714	-14	c.156 others(37): Show c.1562-252612_1562-252599delTATATATATTTTAT	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC5_chr13_91393621_92872237	92663856	CTATATAT others(7): Show CTATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02922.hp1 HG03041.hp2 HG02145.hp2 HG02922.hp1 HG03041.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0030 a0001c0001t0001g0033 a0002c0002t0002g0038 a0001c0001t0001g0030 a0001c0001t0001g0033 a0002c0002t0002g0038	3	42	0.0714	-14	c.156 others(37): Show c.1562-202391_1562-202378delTATATATATATATA	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC5_chr13_91393621_92872237	92708857	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp2 HG02280.hp1 others(3): Show HG01109.hp1 HG01891.hp2 HG02280.hp1 HG02280.hp2 HG03486.hp2 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0004 a0001c0001t0001 a0001c0001t0002 a0002c0002t0004	a0001c0001t0001g0018 a0001c0001t0001g0032 a0001c0001t0002g0036 others(3): Show a0001c0001t0001g0018 a0001c0001t0001g0032 a0001c0001t0002g0036 a0001c0001t0002g0039 a0001c0001t0002g0040 a0002c0002t0004g0026	6	42	0.1429	-14	c.156 others(37): Show c.1562-157395_1562-157382delTTTTTTTTTTTTTT	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC5_chr13_91393621_92872237	92840078	CATATATA others(7): Show CATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03486.hp1 HG03041.hp1 HG03486.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0005c0005t0002 a0001c0001t0001 a0005c0005t0002	a0001c0001t0001g0021 a0005c0005t0002g0035 a0001c0001t0001g0021 a0005c0005t0002g0035	2	42	0.0476	-14	c.156 others(35): Show c.1562-26171_1562-26158delATATATATATATAT	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC6_chr13_93221807_94413020	93276458	CAGAGAGA others(7): Show CAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0007 a0001c0001t0029g0007	1	76	0.0132	-14	c.160 others(33): Show c.160+48867_160+48880delAGAGAGAGAGAGAG	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC6_chr13_93221807_94413020	93276485	AGAGAGAG others(7): Show AGAGAGAGAGAGTGT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0034 a0001c0001t0007g0034	1	76	0.0132	-14	c.160 others(33): Show c.160+48871_160+48884delAGAGAGAGAGTGTG	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC6_chr13_93221807_94413020	93276491	AGAGAGTG others(7): Show AGAGAGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01433.hp1 HG01981.hp1 others(6): Show HG01074.hp2 HG01433.hp1 HG01981.hp1 HG02055.hp1 HG02055.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 NA19012.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0024 a0001c0001t0036 others(4): Show a0001c0001t0001 a0001c0001t0024 a0001c0001t0036 a0001c0003t0011 a0002c0002t0002 a0002c0002t0008 a0002c0002t0014	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0024g0014 others(6): Show a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0024g0014 a0001c0001t0036g0001 a0001c0003t0011g0015 a0002c0002t0002g0008 a0002c0002t0002g0039 a0002c0002t0008g0023 a0002c0002t0014g0022	9	76	0.1184	-14	c.160 others(33): Show c.160+48877_160+48890delAGAGTGTGTGTGTG	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC6_chr13_93221807_94413020	93276493	AGAGTGTG others(7): Show AGAGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0030 a0001c0003t0030	a0001c0003t0030g0024 a0001c0003t0030g0024	1	76	0.0132	-14	c.160 others(33): Show c.160+48879_160+48892delAGTGTGTGTGTGTG	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC6_chr13_93221807_94413020	93325092	GAAAGATG others(7): Show GAAAGATGAAAAATT	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01167.hp2 HG01433.hp1 others(4): Show HG00558.hp1 HG01167.hp2 HG01433.hp1 HG03041.hp2 HG03098.hp1 NA19012.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0008 a0001c0001t0020 others(4): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0020 a0001c0001t0029 a0002c0002t0002 a0002c0002t0008 a0002c0002t0028	a0001c0001t0002g0017 a0001c0001t0008g0060 a0001c0001t0020g0061 others(4): Show a0001c0001t0002g0017 a0001c0001t0008g0060 a0001c0001t0020g0061 a0001c0001t0029g0007 a0002c0002t0002g0039 a0002c0002t0008g0023 a0002c0002t0028g0004	7	76	0.0921	-14	c.160 others(33): Show c.160+97477_160+97490delAAAGATGAAAAATT	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	1/8			chr13	TogoVar
GPC6_chr13_93221807_94413020	93588367	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG01074.hp2 others(32): Show HG00558.hp1 HG00558.hp2 HG01074.hp2 HG01167.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01975.hp2 HG02055.hp2 HG02258.hp1 HG02451.hp2 HG02615.hp1 HG02615.hp2 HG02895.hp1 HG02922.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03471.hp1 HG03486.hp2 HG03540.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA19012.hp1 NA19091.hp1 NA19240.hp1 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0025 a0001c0001t0027 a0001c0001t0029 a0001c0001t0035 a0001c0003t0003 a0001c0003t0026 a0002c0002t0002 a0002c0002t0008 a0002c0002t0014 a0002c0002t0028 a0002c0002t0033 a0003c0004t0003	a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0028 others(32): Show a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0043 a0001c0001t0001g0071 a0001c0001t0002g0017 a0001c0001t0003g0065 a0001c0001t0005g0057 a0001c0001t0007g0020 a0001c0001t0009g0016 a0001c0001t0009g0038 a0001c0001t0010g0059 a0001c0001t0012g0002 a0001c0001t0012g0003 a0001c0001t0013g0055 a0001c0001t0015g0036 a0001c0001t0016g0018 a0001c0001t0017g0056 a0001c0001t0021g0053 a0001c0001t0025g0066 a0001c0001t0027g0005 a0001c0001t0029g0007 a0001c0001t0035g0073 a0001c0003t0003g0063 a0001c0003t0026g0006 a0002c0002t0002g0039 a0002c0002t0002g0046 a0002c0002t0002g0064 a0002c0002t0008g0023 a0002c0002t0014g0022 a0002c0002t0028g0004 a0002c0002t0033g0041 a0003c0004t0003g0054 a0003c0004t0003g0058	35	76	0.4605	-14	c.319 others(33): Show c.319+42967_319+42980delGTGTGTGTGTGTGT	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC6_chr13_93221807_94413020	93596602	AATAAATA others(7): Show AATAAATAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01981.hp1 HG02055.hp1 others(5): Show HG01975.hp1 HG01981.hp1 HG02055.hp1 HG02886.hp2 HG02895.hp2 HG03041.hp1 HG03540.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 a0001c0001t0015 a0001c0001t0031 a0001c0001t0036 a0002c0002t0002	a0001c0001t0001g0026 a0001c0001t0005g0062 a0001c0001t0007g0034 others(5): Show a0001c0001t0001g0026 a0001c0001t0005g0062 a0001c0001t0007g0034 a0001c0001t0013g0030 a0001c0001t0015g0048 a0001c0001t0031g0031 a0001c0001t0036g0001 a0002c0002t0002g0008	8	76	0.1053	-14	c.319 others(33): Show c.319+51185_319+51198delAATAAATATATATA	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC6_chr13_93221807_94413020	93698485	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0008 a0002c0002t0002g0008	1	76	0.0132	-14	c.320 others(35): Show c.320-131657_320-131644delTTTTTTTTTTTTTT	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC6_chr13_93221807_94413020	93789598	CATATATA others(7): Show CATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0001 a0001c0001t0036g0001	1	76	0.0132	-14	c.320 others(33): Show c.320-40522_320-40509delTATATATATATATA	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC6_chr13_93221807_94413020	93833107	TAGAGAGA others(7): Show TAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03225.hp1 HG03540.hp1 others(1): Show HG03017.hp2 HG03225.hp1 HG03540.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0031 others(1): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0031 a0001c0001t0032	a0001c0001t0003g0065 a0001c0001t0007g0034 a0001c0001t0031g0031 others(1): Show a0001c0001t0003g0065 a0001c0001t0007g0034 a0001c0001t0031g0031 a0001c0001t0032g0027	4	76	0.0526	-14	c.711 others(31): Show c.711+2600_711+2613delGAGAGAGAGAGAGA	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC6_chr13_93221807_94413020	93895234	GTATATAT others(7): Show GTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03098.hp1 HG03471.hp1 others(1): Show HG02895.hp2 HG03098.hp1 HG03471.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 others(1): Show a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0001t0029	a0001c0001t0008g0060 a0001c0001t0009g0038 a0001c0001t0015g0048 others(1): Show a0001c0001t0008g0060 a0001c0001t0009g0038 a0001c0001t0015g0048 a0001c0001t0029g0007	4	76	0.0526	-14	c.711 others(33): Show c.711+64719_711+64732delATATATATATATAT	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC6_chr13_93221807_94413020	93977467	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	76	0.0132	-14	c.712 others(33): Show c.712-50224_712-50211delTGTGTGTGTGTGTG	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC6_chr13_93221807_94413020	94121371	ACTTTTGT others(7): Show ACTTTTGTATATTAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01496.hp2 HG01243.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0043 a0001c0001t0005g0057 a0001c0001t0001g0043 a0001c0001t0005g0057	2	76	0.0263	-14	c.877 others(33): Show c.877+93479_877+93492delTTTTGTATATTATC	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC6_chr13_93221807_94413020	94392414	AATTTTTT others(7): Show AATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0011 a0002c0002t0003g0011	1	76	0.0132	-14	c.129 others(33): Show c.1290-6051_1290-6038delATTTTTTTTTTTTT	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	7/8			chr13	TogoVar
GPC6_chr13_93221807_94413020	94392415	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG02258.hp2 others(9): Show HG01243.hp1 HG01884.hp2 HG02258.hp2 HG02818.hp1 HG02886.hp2 HG02922.hp2 HG03041.hp2 HG03209.hp1 HG03225.hp1 HG03540.hp1 HG03579.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 others(4): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0020 a0001c0001t0022 a0001c0001t0032	a0001c0001t0004g0033 a0001c0001t0004g0042 a0001c0001t0007g0020 others(9): Show a0001c0001t0004g0033 a0001c0001t0004g0042 a0001c0001t0007g0020 a0001c0001t0007g0034 a0001c0001t0007g0052 a0001c0001t0010g0051 a0001c0001t0010g0059 a0001c0001t0013g0030 a0001c0001t0013g0055 a0001c0001t0020g0061 a0001c0001t0022g0040 a0001c0001t0032g0027	12	76	0.1579	-14	c.129 others(33): Show c.1290-6035_1290-6022delTTTTTTTTTTTTTT	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPCPD1_chr20_5539439_5616006	5581814	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01943.hp1 HG02523.hp1 others(2): Show HG01069.hp1 HG01943.hp1 HG02523.hp1 HG02738.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0141 a0001c0001t0004g0142 a0001c0001t0004g0235 others(2): Show a0001c0001t0004g0141 a0001c0001t0004g0142 a0001c0001t0004g0235 a0001c0001t0004g0238 a0001c0001t0004g0245	5	386	0.0130	-14	c.350 others(31): Show c.350-1697_350-1684delAAAAAAAAAAAAAA	GPCPD1	ENSG00000125772.14	transcript	ENST00000379019.7	protein_coding	6/19			chr20	TogoVar
GPCPD1_chr20_5539439_5616006	5582186	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0039 a0001c0004t0039	a0001c0004t0039g0295 a0001c0004t0039g0295	1	386	0.0026	-14	c.350 others(31): Show c.350-2069_350-2056delTTTTTTTTTTTTTT	GPCPD1	ENSG00000125772.14	transcript	ENST00000379019.7	protein_coding	6/19			chr20	TogoVar
GPCPD1_chr20_5539439_5616006	5611423	AATACAAA others(7): Show AATACAAAATTAGCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	386	0.0026	-14	c.-62 others(23): Show c.-624_-611delGGCTAATTTTGTAT	GPCPD1	ENSG00000125772.14	transcript	ENST00000379019.7	protein_coding		418		chr20	TogoVar
GPD1L_chr3_32101620_32173709	32115758	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA19078.hp1 HG03540.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0114 a0001c0001t0002g0167 a0001c0001t0001g0114 a0001c0001t0002g0167	2	360	0.0056	-14	c.47+ others(29): Show c.47+9035_47+9048delTTTTTTTTTTTTTT	GPD1L	ENSG00000152642.11	transcript	ENST00000282541.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
GPD1L_chr3_32101620_32173709	32121551	ATATATAT others(7): Show ATATATATTTCTATG	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0102 a0001c0002t0001g0102	1	360	0.0028	-14	c.48- others(29): Show c.48-6511_48-6498delGTATATATTTCTAT	GPD1L	ENSG00000152642.11	transcript	ENST00000282541.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
GPD1L_chr3_32101620_32173709	32121714	CATATATT others(7): Show CATATATTTCTATAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02040.hp1 HG02074.hp1 others(48): Show HG01884.hp2 HG02040.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02132.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02647.hp2 HG02976.hp1 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG06807.hp2 NA18942.hp2 NA18945.hp1 NA18947.hp2 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18983.hp1 NA18990.hp2 NA18992.hp2 NA19043.hp2 NA19063.hp1 NA19064.hp1 NA19068.hp1 NA19079.hp2 NA19082.hp2 NA19083.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0013 a0001c0001t0017 a0001c0001t0033 a0001c0001t0034 a0001c0007t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(44): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0120 a0001c0001t0001g0314 a0001c0001t0002g0045 a0001c0001t0002g0284 a0001c0001t0003g0038 a0001c0001t0003g0043 a0001c0001t0003g0046 a0001c0001t0007g0262 a0001c0001t0013g0028 a0001c0001t0017g0033 a0001c0001t0017g0041 a0001c0001t0033g0266 a0001c0001t0034g0030 a0001c0007t0001g0036	51	360	0.1417	-14	c.48- others(29): Show c.48-6327_48-6314delTTCTATATATATAT	GPD1L	ENSG00000152642.11	transcript	ENST00000282541.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
GPHB5_chr14_63307835_63323935	63320744	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01433.hp2 HG02451.hp1 others(7): Show HG01175.hp1 HG01433.hp2 HG02451.hp1 HG02486.hp1 HG03516.hp2 NA18946.hp1 NA18949.hp1 NA18957.hp2 NA19001.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0022 a0001c0001t0001g0044 a0001c0001t0001g0005 a0001c0001t0001g0022 a0001c0001t0001g0044	10	422	0.0237	-14	c.-19 others(25): Show c.-1936_-1923delTTTTTTTTTTTTTT	GPHB5	ENSG00000179600.4	transcript	ENST00000621500.2	protein_coding		1810		chr14	TogoVar
GPHN_chr14_66503147_67186803	66778726	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02280.hp2 HG02976.hp2 HG01175.hp2 HG02280.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124	3	234	0.0128	-14	c.201 others(31): Show c.201+2220_201+2233delTTTTTTTTTTTTTT	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GPHN_chr14_66503147_67186803	66845847	GTGTGTGT others(7): Show GTGTGTGTGTGTGTC	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0230 a0002c0003t0001g0230	1	234	0.0043	-14	c.294 others(33): Show c.294+21288_294+21301delTGTGTGTCTGTGTG	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GPHN_chr14_66503147_67186803	66961935	TATATATA others(7): Show TATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	234	0.0043	-14	c.829 others(31): Show c.829-3254_829-3241delTATATATATATACA	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr14	TogoVar

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