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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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
LSG1_chr3_194635791_194677191	194645549	CACACACA others(15): Show CACACACACACACACACACACAG	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01069.hp2 HG01952.hp1 others(17): Show HG00438.hp2 HG01069.hp2 HG01952.hp1 HG02027.hp1 HG02135.hp2 HG02155.hp2 HG03239.hp1 HG03491.hp2 NA18939.hp2 NA18954.hp1 NA18970.hp1 NA18973.hp1 NA18978.hp2 NA18980.hp2 NA18981.hp2 NA18994.hp1 NA19000.hp2 NA19007.hp2 NA19089.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0011	a0001c0003 a0002c0002 a0003c0004 others(1): Show a0001c0003 a0002c0002 a0003c0004 a0011c0021	a0001c0003t0002 a0001c0003t0005 a0001c0003t0008 others(11): Show a0001c0003t0002 a0001c0003t0005 a0001c0003t0008 a0001c0003t0015 a0001c0003t0022 a0001c0003t0027 a0001c0003t0036 a0001c0003t0071 a0001c0003t0090 a0002c0002t0025 a0003c0004t0001 a0003c0004t0003 a0003c0004t0004 a0011c0021t0002	a0001c0003t0002g0180 a0001c0003t0005g0173 a0001c0003t0008g0192 others(16): Show a0001c0003t0002g0180 a0001c0003t0005g0173 a0001c0003t0008g0192 a0001c0003t0008g0211 a0001c0003t0015g0204 a0001c0003t0022g0202 a0001c0003t0027g0222 a0001c0003t0036g0172 a0001c0003t0036g0177 a0001c0003t0071g0148 a0001c0003t0090g0184 a0002c0002t0025g0339 a0003c0004t0001g0002 a0003c0004t0001g0032 a0003c0004t0001g0038 a0003c0004t0001g0045 a0003c0004t0003g0062 a0003c0004t0004g0056 a0011c0021t0002g0171	20	408	0.0490	-22	c.162 others(39): Show c.1623+593_1623+614delCTGTGTGTGTGTGTGTGTGTGT	LSG1	ENSG00000041802.11	transcript	ENST00000265245.10	protein_coding	12/13			chr3	TogoVar
LSG1_chr3_194635791_194677191	194645553	CACACACA others(15): Show CACACACACACACACACAGACAG	C C	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0298 a0001c0001t0006g0298	1	408	0.0025	-22	c.162 others(39): Show c.1623+589_1623+610delCTGTCTGTGTGTGTGTGTGTGT	LSG1	ENSG00000041802.11	transcript	ENST00000265245.10	protein_coding	12/13			chr3	TogoVar
LSM12_chr17_44029328_44071671	44066608	CGGCGGCG others(15): Show CGGCGGCGGCGGCGGCAGCAGCG	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0276 a0001c0001t0015g0276	1	298	0.0034	-22	c.-43 others(29): Show c.-43_-22delCGCTGCTGCCGCCGCCGCCGCC	LSM12	ENSG00000161654.10	transcript	ENST00000293406.8	protein_coding	1/5	22		chr17	TogoVar
LSM3_chr3_14173817_14206122	14180820	CCTTTTTT others(15): Show CCTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA19009.hp2 NA19068.hp1 others(1): Show NA18967.hp1 NA19009.hp2 NA19068.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0188 others(1): Show a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189	4	396	0.0101	-22	c.22- others(35): Show c.22-739_22-718delCTTTTTTTTTTTTTTTTTTTTT	LSM3	ENSG00000170860.4	transcript	ENST00000306024.4	protein_coding	1/3			chr3	TogoVar
LSM3_chr3_14173817_14206122	14180837	TTTTTTTT others(15): Show TTTTTTTTTTTTTTTTTTTTTAA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02976.hp2 HG03471.hp2 HG02615.hp2 HG02976.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0036 a0001c0001t0025 a0001c0001t0036	a0001c0001t0025g0037 a0001c0001t0025g0101 a0001c0001t0036g0037 a0001c0001t0025g0037 a0001c0001t0025g0101 a0001c0001t0036g0037	3	396	0.0076	-22	c.22- others(35): Show c.22-722_22-701delTTTTTTTTTTTTTTTTTTTTAA	LSM3	ENSG00000170860.4	transcript	ENST00000306024.4	protein_coding	1/3			chr3	TogoVar
LSM6_chr4_146170718_146196535	146172142	TTTCTTCT others(15): Show TTTCTTCTTTCTTTCTTTCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0042 a0001c0001t0004g0042	1	376	0.0027	-22	c.-36 others(33): Show c.-3679_-3658delTTCTTCTTTCTTTCTTTCTTCC	LSM6	ENSG00000164167.12	transcript	ENST00000296581.11	protein_coding		3575		chr4	TogoVar
LSM8_chr7_118179164_118209035	118181591	ATATTATT others(15): Show ATATTATTTTATTTTAAAAAACT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01070.hp1 NA20752.hp1 HG00639.hp1 HG01070.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0109 a0001c0001t0111 a0001c0001t0112 a0001c0001t0109 a0001c0001t0111 a0001c0001t0112	a0001c0001t0109g0003 a0001c0001t0111g0003 a0001c0001t0112g0003 a0001c0001t0109g0003 a0001c0001t0111g0003 a0001c0001t0112g0003	3	414	0.0073	-22	c.-26 others(33): Show c.-2632_-2611delTATTATTTTATTTTAAAAAACT	LSM8	ENSG00000128534.8	transcript	ENST00000249299.7	protein_coding		2572		chr7	TogoVar
LSM8_chr7_118179164_118209035	118206968	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG02809.hp2 HG01069.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0103 a0001c0001t0117 a0001c0001t0103 a0001c0001t0117	a0001c0001t0103g0011 a0001c0001t0117g0022 a0001c0001t0103g0011 a0001c0001t0117g0022	2	414	0.0048	-22	c.14 others(35): Show c.14967_*14988delTATATATATATATATATATATA	LSM8	ENSG00000128534.8	transcript	ENST00000249299.7	protein_coding		2934		chr7	TogoVar
LST1_chr6_31581277_31593909	31593326	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	423	0.0024	-22	c.46 others(33): Show c.4651_*4672delTGTGTGTGTGTGTGTGTGTGTG	LST1	ENSG00000204482.11	transcript	ENST00000438075.7	protein_coding		4418		chr6	TogoVar
LTBP1_chr2_32941953_33404509	32975583	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	164	0.0061	-22	c.565 others(41): Show c.565+26655_565+26676delTTTTTTTTTTTTTTTTTTTTTT	LTBP1	ENSG00000049323.16	transcript	ENST00000404816.7	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr2	TogoVar
LTBP1_chr2_32941953_33404509	33103606	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGTGTGA	T T	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0003 a0003	a0003c0021 a0003c0021	a0003c0021t0002 a0003c0021t0002	a0003c0021t0002g0101 a0003c0021t0002g0101	1	164	0.0061	-22	c.864 others(39): Show c.864-6971_864-6950delGTGTGTGTGTGTGTGTGAGTGT	LTBP1	ENSG00000049323.16	transcript	ENST00000404816.7	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr2	TogoVar
LTBP1_chr2_32941953_33404509	33123037	ACTTTTCC others(15): Show ACTTTTCCTCACTCTCTTTATAG	A A	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0032 a0001c0002t0032	a0001c0002t0032g0011 a0001c0002t0032g0011	1	164	0.0061	-22	c.103 others(43): Show c.1034-11742_1034-11721delTCTTTATAGCTTTTCCTCACTC	LTBP1	ENSG00000049323.16	transcript	ENST00000404816.7	protein_coding	4/33		INFO_REALIGN_3_PRIME	chr2	TogoVar
LTBP1_chr2_32941953_33404509	33256724	CTATATAT others(15): Show CTATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02896.hp2 HG03139.hp2 HG01496.hp1 HG02896.hp2 HG03139.hp2	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0020 a0002c0030 a0012c0041 a0001c0020 a0002c0030 a0012c0041	a0001c0020t0001 a0002c0030t0005 a0012c0041t0008 a0001c0020t0001 a0002c0030t0005 a0012c0041t0008	a0001c0020t0001g0109 a0002c0030t0005g0151 a0012c0041t0008g0078 a0001c0020t0001g0109 a0002c0030t0005g0151 a0012c0041t0008g0078	3	164	0.0183	-22	c.216 others(39): Show c.2168-527_2168-506delTATATATATATATATATATATA	LTBP1	ENSG00000049323.16	transcript	ENST00000404816.7	protein_coding	11/33		INFO_REALIGN_3_PRIME	chr2	TogoVar
LTBP1_chr2_32941953_33404509	33354683	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp1 HG01256.hp1 others(3): Show HG00639.hp1 HG00735.hp1 HG01256.hp1 HG01261.hp1 HG03516.hp1 HG03927.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0009c0033	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0002t0001 a0001c0005t0001 a0009c0033t0026	a0001c0001t0001g0100 a0001c0001t0005g0142 a0001c0001t0009g0050 others(3): Show a0001c0001t0001g0100 a0001c0001t0005g0142 a0001c0001t0009g0050 a0001c0002t0001g0062 a0001c0005t0001g0025 a0009c0033t0026g0121	6	164	0.0366	-22	c.400 others(41): Show c.4001-5889_4001-5868delACACACACACACACACACACAC	LTBP1	ENSG00000049323.16	transcript	ENST00000404816.7	protein_coding	26/33		INFO_REALIGN_3_PRIME	chr2	TogoVar
LTBP4_chr19_40596369_40634818	40625252	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02647.hp1 HG02886.hp2 others(1): Show HG02080.hp1 HG02647.hp1 HG02886.hp2 NA19004.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0129 a0001c0001t0001g0143 a0002c0002t0001g0300 others(1): Show a0001c0001t0001g0129 a0001c0001t0001g0143 a0002c0002t0001g0300 a0002c0002t0001g0305	4	338	0.0118	-22	c.383 others(39): Show c.3833-561_3833-540delATATATATATATATATATATAT	LTBP4	ENSG00000090006.18	transcript	ENST00000396819.8	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr19	TogoVar
LTC4S_chr5_179788986_179801647	179791100	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00741.hp2 HG01106.hp2 others(4): Show HG00609.hp1 HG00741.hp2 HG01106.hp2 HG02071.hp2 HG02738.hp1 NA19009.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0002g0002 a0001c0001t0002g0010	7	418	0.0168	-22	c.-29 others(33): Show c.-2980_-2959delTTTTTTTTTTTTTTTTTTTTTT	LTC4S	ENSG00000213316.10	transcript	ENST00000292596.15	protein_coding		2885		chr5	TogoVar
LTF_chr3_46430645_46469905	46441930	AGAGAGTG others(15): Show AGAGAGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA19030.hp2 HG01884.hp1 NA19030.hp2	a0001 a0024 a0001 a0024	a0001c0007 a0024c0026 a0001c0007 a0024c0026	a0001c0007t0003 a0024c0026t0003 a0001c0007t0003 a0024c0026t0003	a0001c0007t0003g0223 a0024c0026t0003g0222 a0001c0007t0003g0223 a0024c0026t0003g0222	2	428	0.0047	-22	c.165 others(39): Show c.1656-469_1656-448delACACACACACACACACACTCTC	LTF	ENSG00000012223.13	transcript	ENST00000231751.9	protein_coding	13/16			chr3	TogoVar
LTF_chr3_46430645_46469905	46441932	AGAGTGTG others(15): Show AGAGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0164 a0005c0005t0002g0164	1	428	0.0023	-22	c.165 others(39): Show c.1656-471_1656-450delACACACACACACACACACACTC	LTF	ENSG00000012223.13	transcript	ENST00000231751.9	protein_coding	13/16			chr3	TogoVar
LUC7L2_chr7_139354894_139428454	139416040	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19077.hp1 NA19088.hp1 NA19010.hp2 NA19077.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0173 a0001c0001t0001g0180 a0002c0003t0001g0208 a0001c0001t0001g0173 a0001c0001t0001g0180 a0002c0003t0001g0208	3	276	0.0109	-22	c.810 others(39): Show c.810-1469_810-1448delATATATATATATATATATATAT	LUC7L2	ENSG00000146963.18	transcript	ENST00000354926.9	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
LUC7L3_chr17_50714603_50761219	50718699	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02258.hp2 HG02559.hp2 HG02055.hp1 HG02258.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0075 a0001c0001t0012g0076 a0001c0001t0012g0198 a0001c0001t0012g0075 a0001c0001t0012g0076 a0001c0001t0012g0198	3	392	0.0077	-22	c.-10 others(33): Show c.-1033_-1012delTGTGTGTGTGTGTGTGTGTATG	LUC7L3	ENSG00000108848.16	transcript	ENST00000505658.6	protein_coding		903		chr17	TogoVar
LUC7L3_chr17_50714603_50761219	50729896	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA18955.hp1 NA18985.hp2 others(1): Show HG02145.hp1 NA18955.hp1 NA18985.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0044 a0001c0001t0003 a0001c0001t0006 a0001c0001t0044	a0001c0001t0003g0067 a0001c0001t0003g0136 a0001c0001t0006g0331 others(1): Show a0001c0001t0003g0067 a0001c0001t0003g0136 a0001c0001t0006g0331 a0001c0001t0044g0319	4	392	0.0102	-22	c.100 others(39): Show c.100-7036_100-7015delATATATATATATATATATATAT	LUC7L3	ENSG00000108848.16	transcript	ENST00000505658.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
LUM_chr12_91097629_91116494	91107255	GAAAGAAA others(15): Show GAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02622.hp2 NA19030.hp2 HG02109.hp2 HG02622.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0019 a0001c0001t0003g0159 a0001c0001t0003g0163 a0001c0001t0003g0019 a0001c0001t0003g0159 a0001c0001t0003g0163	3	384	0.0078	-22	c.862 others(37): Show c.862+841_862+862delTTCTTTCTTTCTTTCTTTCTTT	LUM	ENSG00000139329.5	transcript	ENST00000266718.5	protein_coding	2/2			chr12	TogoVar
LUM_chr12_91097629_91116494	91107265	AAGAAAGA others(15): Show AAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0074 a0001c0002t0002g0074	1	384	0.0026	-22	c.862 others(37): Show c.862+831_862+852delCTTTCTTTCTTTCTTTCTTTCT	LUM	ENSG00000139329.5	transcript	ENST00000266718.5	protein_coding	2/2			chr12	TogoVar
LUZP2_chr11_24492053_25087638	24682520	AATTCAGT others(15): Show AATTCAGTAGGTTCAGTGTGTAT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0046 a0001c0003t0012g0046	1	116	0.0086	-22	c.63- others(39): Show c.63-46646_63-46625delTCAGTAGGTTCAGTGTGTATAT	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
LUZP2_chr11_24492053_25087638	25024913	AACCAAAA others(15): Show AACCAAAACAGCATGGTACTGGT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0105 a0001c0001t0004g0105	1	116	0.0086	-22	c.766 others(41): Show c.766-25114_766-25093delCATGGTACTGGTACCAAAACAG	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
LUZP2_chr11_24492053_25087638	25044249	GTGTGTGT others(15): Show GTGTGTGTGTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02559.hp2 HG02717.hp1 others(1): Show HG01071.hp2 HG02559.hp2 HG02717.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0006 a0001c0001t0005g0029 a0001c0001t0005g0030 others(1): Show a0001c0001t0005g0006 a0001c0001t0005g0029 a0001c0001t0005g0030 a0001c0001t0005g0101	4	116	0.0345	-22	c.766 others(39): Show c.766-5787_766-5766delGTGTGTGTATATATATATATAT	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
LY6E_chr8_143013529_143027409	143015833	AGGGGGAG others(15): Show AGGGGGAGGGAGTCCTGTGTGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp2 NA19058.hp1 NA18984.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	2	377	0.0053	-22	c.-28 others(33): Show c.-2810_-2789delGGGGGAGGGAGTCCTGTGTGAG	LY6E	ENSG00000160932.11	transcript	ENST00000292494.11	protein_coding		2695		chr8	TogoVar
LY86_chr6_6583720_6659982	6647968	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	424	0.0024	-22	c.353 others(39): Show c.353-1634_353-1613delACACACACACACACACACACAC	LY86	ENSG00000112799.9	transcript	ENST00000230568.5	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
LYN_chr8_55874835_56019169	55931134	TAATAAAA others(15): Show TAATAAAATATATTATATTTTTA	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0005 a0001c0002t0022g0005	1	288	0.0035	-22	c.-5- others(39): Show c.-5-10700_-5-10679delTAAATAAAATATATTATATTTT	LYN	ENSG00000254087.8	transcript	ENST00000519728.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
LYPD4_chr19_41832074_41849683	41843056	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA18942.hp1 HG02451.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0161 a0001c0001t0001g0162	2	428	0.0047	-22	c.-12 others(39): Show c.-121+500_-121+521delGTTTTTTTTTTTTTTTTTTTTT	LYPD4	ENSG00000273111.6	transcript	ENST00000609812.6	protein_coding	1/4			chr19	TogoVar
LYPD6_chr2_149325587_149479138	149468132	AACACACA others(15): Show AACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01943.hp1 HG01978.hp1 others(17): Show HG00558.hp1 HG01943.hp1 HG01978.hp1 HG01993.hp2 HG02293.hp2 HG02698.hp1 HG03490.hp2 HG03492.hp1 HG03831.hp2 HG04184.hp2 NA18612.hp1 NA18747.hp1 NA18946.hp1 NA18951.hp2 NA18965.hp2 NA18985.hp2 NA19003.hp1 NA19004.hp2 NA19062.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 a0001c0001t0001 a0001c0001t0002 a0001c0001t0020	a0001c0001t0001g0017 a0001c0001t0002g0001 a0001c0001t0002g0039 others(16): Show a0001c0001t0001g0017 a0001c0001t0002g0001 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0054 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0129 a0001c0001t0002g0143 a0001c0001t0002g0148 a0001c0001t0002g0178 a0001c0001t0020g0146	20	230	0.0870	-22	c.218 others(37): Show c.218-478_218-457delACACACACACACACACACACAC	LYPD6	ENSG00000187123.15	transcript	ENST00000334166.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
LYPLAL1_chr1_219168878_219217858	219170346	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	358	0.0028	-22	c.-35 others(33): Show c.-3544_-3523delTGTGTGTGTGTGTGTGTGTGTG	LYPLAL1	ENSG00000143353.12	transcript	ENST00000366928.10	protein_coding		3531		chr1	TogoVar
LYRM4_chr6_5103419_5265950	5245109	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	286	0.0035	-22	c.86+ others(39): Show c.86+15517_86+15538delATATATATATATATATATTTTT	LYRM4	ENSG00000214113.11	transcript	ENST00000330636.9	protein_coding	1/2			chr6	TogoVar
LYRM4_chr6_5103419_5265950	5245113	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA19240.hp1 HG02258.hp2 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0015 a0002c0002t0002g0017 a0002c0002t0002g0015 a0002c0002t0002g0017	2	286	0.0070	-22	c.86+ others(39): Show c.86+15513_86+15534delATATATATATATATATATATAT	LYRM4	ENSG00000214113.11	transcript	ENST00000330636.9	protein_coding	1/2			chr6	TogoVar
LYRM7_chr5_131165944_131210428	131181470	TATATATA others(15): Show TATATATAACATATATATGTATA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01891.hp2 HG02717.hp2 others(3): Show HG00639.hp1 HG01891.hp2 HG02717.hp2 HG02886.hp1 HG03195.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0053 a0001c0001t0015 a0001c0001t0053	a0001c0001t0015g0008 a0001c0001t0015g0087 a0001c0001t0015g0088 others(2): Show a0001c0001t0015g0008 a0001c0001t0015g0087 a0001c0001t0015g0088 a0001c0001t0015g0090 a0001c0001t0053g0089	6	300	0.0200	-22	c.92- others(35): Show c.92-758_92-737delATATATAACATATATATGTATA	LYRM7	ENSG00000186687.16	transcript	ENST00000379380.9	protein_coding	2/4			chr5	TogoVar
LYRM7_chr5_131165944_131210428	131192032	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0036	1	300	0.0033	-22	c.244 others(39): Show c.244+4951_244+4972delCACACACACACACACACACACA	LYRM7	ENSG00000186687.16	transcript	ENST00000379380.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
LYRM9_chr17_27873358_27898365	27874141	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01069.hp1 HG01071.hp2 others(29): Show HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01261.hp2 HG01433.hp2 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01993.hp1 HG02071.hp2 HG02258.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02922.hp1 HG03017.hp2 HG03195.hp2 HG03225.hp1 HG03486.hp2 HG03704.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA19030.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012	a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0024 others(23): Show a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0082 a0001c0001t0001g0117 a0001c0001t0001g0128 a0001c0001t0001g0154 a0001c0001t0001g0169 a0001c0001t0003g0011 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0204 a0001c0001t0003g0212 a0001c0001t0008g0173 a0001c0001t0011g0083 a0001c0001t0012g0129	32	394	0.0812	-22	c.53 others(33): Show c.5310_*5331delCACACACACACACACACACACA	LYRM9	ENSG00000232859.10	transcript	ENST00000379102.8	protein_coding		4216		chr17	TogoVar
LYRM9_chr17_27873358_27898365	27887713	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0272 a0001c0001t0016g0272	1	394	0.0025	-22	c.-18 others(39): Show c.-18-5023_-18-5002delACACACACACACACACACACAC	LYRM9	ENSG00000232859.10	transcript	ENST00000379102.8	protein_coding	1/3			chr17	TogoVar
LYST_chr1_235656041_235871906	235730565	ATATGTGT others(15): Show ATATGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02818.hp1 NA18906.hp1 HG01106.hp1 HG02818.hp1 NA18906.hp1	a0002 a0008 a0002 a0008	a0002c0027 a0002c0036 a0008c0017 a0002c0027 a0002c0036 a0008c0017	a0002c0027t0001 a0002c0036t0001 a0008c0017t0001 a0002c0027t0001 a0002c0036t0001 a0008c0017t0001	a0002c0027t0001g0127 a0002c0036t0001g0109 a0008c0017t0001g0098 a0002c0027t0001g0127 a0002c0036t0001g0109 a0008c0017t0001g0098	3	236	0.0127	-22	c.904 others(39): Show c.9044+260_9044+281delCACACACACACACACACACATA	LYST	ENSG00000143669.16	transcript	ENST00000389793.7	protein_coding	36/52			chr1	TogoVar
LYST_chr1_235656041_235871906	235799928	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG03471.hp2 HG00558.hp1 HG00558.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0038 a0001c0001 a0001c0038	a0001c0001t0001 a0001c0038t0001 a0001c0001t0001 a0001c0038t0001	a0001c0001t0001g0158 a0001c0001t0001g0212 a0001c0038t0001g0106 a0001c0001t0001g0158 a0001c0001t0001g0212 a0001c0038t0001g0106	3	236	0.0127	-22	c.400 others(39): Show c.4006+370_4006+391delAAAAAAAAAAAAAAAAAAAAAA	LYST	ENSG00000143669.16	transcript	ENST00000389793.7	protein_coding	10/52			chr1	TogoVar
LZTS1_chr8_20241165_20308963	20251098	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03139.hp1 NA18951.hp1 others(3): Show HG02895.hp2 HG03139.hp1 NA18951.hp1 NA19007.hp1 NA19011.hp2 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0004 a0002c0003t0005 a0001c0001t0004 a0002c0003t0005	a0001c0001t0004g0191 a0001c0001t0004g0324 a0002c0003t0005g0052 others(3): Show a0001c0001t0004g0191 a0001c0001t0004g0324 a0002c0003t0005g0052 a0002c0003t0005g0356 a0002c0003t0005g0357 a0002c0003t0005g0358	6	406	0.0148	-22	c.115 others(39): Show c.1150-757_1150-736delATATATATATATATATATATAT	LZTS1	ENSG00000061337.16	transcript	ENST00000381569.5	protein_coding	3/3			chr8	TogoVar
LZTS1_chr8_20241165_20308963	20304885	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02723.hp1 HG02818.hp1 others(1): Show HG02055.hp2 HG02723.hp1 HG02818.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 others(1): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0004g0023	4	406	0.0099	-22	c.-13 others(33): Show c.-1302_-1281delCACACACACACACACACACACA	LZTS1	ENSG00000061337.16	transcript	ENST00000381569.5	protein_coding		923		chr8	TogoVar
M1AP_chr2_74552883_74653330	74587139	TTCCTTTT others(15): Show TTCCTTTTCTCTCATCCACAAAA	T T	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0067 a0003c0003t0002g0067	1	248	0.0040	-22	c.596 others(39): Show c.596-5314_596-5293delTTTTGTGGATGAGAGAAAAGGA	M1AP	ENSG00000159374.18	transcript	ENST00000421985.2	protein_coding	4/10			chr2	TogoVar
MACF1_chr1_39199695_39492138	39360006	AAAAAAAA others(15): Show AAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02602.hp1 HG00733.hp2 HG02602.hp1	a0003 a0045 a0003 a0045	a0003c0002 a0045c0070 a0003c0002 a0045c0070	a0003c0002t0001 a0045c0070t0001 a0003c0002t0001 a0045c0070t0001	a0003c0002t0001g0108 a0045c0070t0001g0144 a0003c0002t0001g0108 a0045c0070t0001g0144	2	246	0.0081	-22	c.122 others(41): Show c.12244+744_12245-764delAAAAAATATATATATATATATA	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	47/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39360008	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp1 HG00639.hp1 others(12): Show HG00558.hp2 HG00609.hp1 HG00639.hp1 HG00642.hp2 HG02135.hp2 HG02165.hp1 HG02523.hp2 HG02683.hp1 HG02738.hp1 HG02809.hp1 HG03540.hp2 HG03927.hp2 NA18939.hp2 NA18980.hp2 NA19084.hp1	a0003 a0010 a0019 others(1): Show a0003 a0010 a0019 a0048	a0003c0002 a0010c0016 a0010c0064 others(2): Show a0003c0002 a0010c0016 a0010c0064 a0019c0028 a0048c0065	a0003c0002t0001 a0010c0016t0004 a0010c0064t0004 others(2): Show a0003c0002t0001 a0010c0016t0004 a0010c0064t0004 a0019c0028t0001 a0048c0065t0001	a0003c0002t0001g0109 a0003c0002t0001g0110 a0003c0002t0001g0115 others(12): Show a0003c0002t0001g0109 a0003c0002t0001g0110 a0003c0002t0001g0115 a0003c0002t0001g0135 a0003c0002t0001g0147 a0003c0002t0001g0154 a0003c0002t0001g0156 a0003c0002t0001g0159 a0010c0016t0004g0136 a0010c0016t0004g0140 a0010c0016t0004g0145 a0010c0064t0004g0133 a0019c0028t0001g0130 a0019c0028t0001g0132 a0048c0065t0001g0141	15	246	0.0610	-22	c.122 others(41): Show c.12244+746_12245-762delAAAATATATATATATATATATA	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	47/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39360010	AAAATATA others(15): Show AAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 NA18975.hp2 HG00735.hp2 NA18975.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0111 a0003c0002t0001g0148 a0003c0002t0001g0111 a0003c0002t0001g0148	2	246	0.0081	-22	c.122 others(41): Show c.12244+748_12245-760delAATATATATATATATATATATA	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	47/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39417713	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02886.hp2 HG02922.hp2 others(1): Show HG02486.hp1 HG02886.hp2 HG02922.hp2 NA20129.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0009 a0002c0004t0001g0010 a0002c0004t0001g0011 others(1): Show a0002c0004t0001g0009 a0002c0004t0001g0010 a0002c0004t0001g0011 a0002c0004t0001g0012	4	246	0.0163	-22	c.158 others(43): Show c.15817-4646_15817-4625delTTTTTTTTTTTTTTTTTTTTTT	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	58/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39477045	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02896.hp1 HG02897.hp1 others(1): Show HG01243.hp1 HG02896.hp1 HG02897.hp1 NA20805.hp2	a0002 a0014 a0043 a0002 a0014 a0043	a0002c0003 a0014c0021 a0043c0057 a0002c0003 a0014c0021 a0043c0057	a0002c0003t0002 a0014c0021t0001 a0043c0057t0001 a0002c0003t0002 a0014c0021t0001 a0043c0057t0001	a0002c0003t0002g0188 a0014c0021t0001g0226 a0014c0021t0001g0227 others(1): Show a0002c0003t0002g0188 a0014c0021t0001g0226 a0014c0021t0001g0227 a0043c0057t0001g0168	4	246	0.0163	-22	c.219 others(43): Show c.21959-2728_21959-2707delTATATATATATATATATATATA	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	97/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39477070	TATATATA others(15): Show TATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01243.hp2 HG02717.hp2 others(2): Show HG00642.hp1 HG01243.hp2 HG02717.hp2 HG02818.hp2 HG02895.hp1	a0005 a0020 a0037 a0005 a0020 a0037	a0005c0008 a0020c0075 a0037c0058 a0005c0008 a0020c0075 a0037c0058	a0005c0008t0001 a0005c0008t0007 a0020c0075t0001 others(1): Show a0005c0008t0001 a0005c0008t0007 a0020c0075t0001 a0037c0058t0001	a0005c0008t0001g0207 a0005c0008t0001g0210 a0005c0008t0007g0166 others(2): Show a0005c0008t0001g0207 a0005c0008t0001g0210 a0005c0008t0007g0166 a0020c0075t0001g0211 a0037c0058t0001g0245	5	246	0.0203	-22	c.219 others(43): Show c.21959-2726_21959-2705delTATATATATATATATATATACA	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	97/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACO1_chr1_25425897_25505209	25480929	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02895.hp2 HG02145.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0019 a0001c0001t0002 a0001c0001t0019	a0001c0001t0002g0086 a0001c0001t0019g0125 a0001c0001t0002g0086 a0001c0001t0019g0125	2	282	0.0071	-22	c.115 others(41): Show c.1155-3162_1155-3141delATATATATATATATATATATAT	MACO1	ENSG00000204178.11	transcript	ENST00000374343.5	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr1	TogoVar

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