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
LUZP1_chr1_23079030_23173856	23117454	C C	CCTCCCTC others(19): Show CCTCCCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02965.hp1 NA19043.hp2 HG02451.hp2 HG02965.hp1 NA19043.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0009 a0008c0008t0009	a0008c0008t0009g0156 a0008c0008t0009g0168 a0008c0008t0009g0169 a0008c0008t0009g0156 a0008c0008t0009g0168 a0008c0008t0009g0169	3	322	0.0093	26	c.-22 others(45): Show c.-225-8328_-225-8327insAGAGAGAGAGAGAGAGAGAGAGGGAG	LUZP1	ENSG00000169641.15	transcript	ENST00000302291.9	protein_coding	1/3			chr1	TogoVar
LUZP2_chr11_24492053_25087638	24601877	C C	CATGTATA others(19): Show CATGTATATATGTATATATATGTATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0032 a0001c0003t0032	a0001c0003t0032g0056 a0001c0003t0032g0056	1	116	0.0086	26	c.62+ others(45): Show c.62+104590_62+104591insATGTATATATGTATATATGTATATAT	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
LUZP2_chr11_24492053_25087638	24774362	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTCTCTCTA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0112 a0001c0001t0033g0112	1	116	0.0086	26	c.396 others(45): Show c.396+11055_396+11056insCTCTCTCTCTCTCTCTCTCTCTCTAT	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
LUZP2_chr11_24492053_25087638	24984549	T T	TATATATA others(19): Show TATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG02145.hp2 others(4): Show HG01891.hp1 HG02055.hp1 HG02145.hp2 HG03098.hp1 NA18612.hp2 NA18981.hp1 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0002c0002t0001	a0001c0001t0002g0065 a0001c0001t0003g0024 a0001c0001t0003g0031 others(4): Show a0001c0001t0002g0065 a0001c0001t0003g0024 a0001c0001t0003g0031 a0001c0001t0004g0078 a0001c0001t0011g0107 a0002c0002t0001g0013 a0002c0002t0001g0066	7	116	0.0603	26	c.765 others(43): Show c.765+1257_765+1258insTATATATATATATATATATATATAAA	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
LUZP2_chr11_24492053_25087638	25040343	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02523.hp1 HG02965.hp1 HG02145.hp1 HG02523.hp1 HG02965.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0013 a0002c0002t0009 a0001c0001t0004 a0001c0001t0013 a0002c0002t0009	a0001c0001t0004g0062 a0001c0001t0013g0039 a0002c0002t0009g0043 a0001c0001t0004g0062 a0001c0001t0013g0039 a0002c0002t0009g0043	3	116	0.0259	26	c.766 others(43): Show c.766-9675_766-9674insTTTTTTTTTTTTTTTTTTTTTTTTTT	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
LUZP2_chr11_24492053_25087638	25043583	G G	GAGATATA others(19): Show GAGATATATGTATCCAGGATATATGAT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0083 a0002c0002t0001g0083	1	116	0.0086	26	c.766 others(43): Show c.766-6454_766-6453insGATATATGTATCCAGGATATATGATA	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
LUZP2_chr11_24492053_25087638	25044006	T T	TAGTCTAT others(19): Show TAGTCTATATATATCTGATATATATAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02055.hp2 HG02258.hp1 others(8): Show HG01109.hp1 HG02055.hp2 HG02258.hp1 HG02451.hp2 HG02896.hp1 HG02970.hp1 HG03130.hp2 HG03209.hp2 HG03540.hp1 NA19030.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 others(3): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0001c0001t0016 a0001c0001t0039	a0001c0001t0003g0036 a0001c0001t0003g0095 a0001c0001t0005g0049 others(8): Show a0001c0001t0003g0036 a0001c0001t0003g0095 a0001c0001t0005g0049 a0001c0001t0006g0035 a0001c0001t0006g0047 a0001c0001t0006g0115 a0001c0001t0013g0051 a0001c0001t0013g0086 a0001c0001t0016g0033 a0001c0001t0016g0088 a0001c0001t0039g0034	11	116	0.0948	26	c.766 others(43): Show c.766-6018_766-5993dupCTGATATATATAGAGTCTATATATAT	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
LVRN_chr5_115957475_116032606	115961358	A A	ACACACAC others(19): Show ACACACACACACACACGCGCGCGCGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0236 a0001c0004t0001g0236	1	418	0.0024	26	c.-12 others(37): Show c.-1260_-1259insCACACACACACACACGCGCGCGCGCG	LVRN	ENSG00000172901.21	transcript	ENST00000357872.9	protein_coding		1116		chr5	TogoVar
LVRN_chr5_115957475_116032606	116012657	T T	TTAATTTA others(19): Show TTAATTTACCTGCAAAGCACGTGCATG	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	418	0.0024	26	c.234 others(43): Show c.2342+192_2342+217dupATTTACCTGCAAAGCACGTGCATGTA	LVRN	ENSG00000172901.21	transcript	ENST00000357872.9	protein_coding	15/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
LY75_chr2_159798355_159909756	159848093	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0003 a0003c0001t0003	a0003c0001t0003g0170 a0003c0001t0003g0170	1	330	0.0030	26	c.315 others(45): Show c.3150+1886_3150+1887insGTGTGTGTGTGTGTGTGTGTGTGTGT	LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	23/34			chr2	TogoVar
LY75_chr2_159798355_159909756	159848093	T T	TATACACA others(19): Show TATACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02735.hp2 NA18954.hp2 others(3): Show HG01123.hp1 HG02735.hp2 NA18954.hp2 NA18964.hp1 NA18979.hp2 NA19091.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0044	a0001c0003 a0001c0015 a0003c0065 others(2): Show a0001c0003 a0001c0015 a0003c0065 a0004c0010 a0044c0059	a0001c0003t0003 a0001c0015t0002 a0003c0065t0003 others(2): Show a0001c0003t0003 a0001c0015t0002 a0003c0065t0003 a0004c0010t0001 a0044c0059t0001	a0001c0003t0003g0283 a0001c0003t0003g0304 a0001c0015t0002g0293 others(3): Show a0001c0003t0003g0283 a0001c0003t0003g0304 a0001c0015t0002g0293 a0003c0065t0003g0044 a0004c0010t0001g0121 a0044c0059t0001g0267	6	330	0.0182	26	c.315 others(45): Show c.3150+1886_3150+1887insGTGTGTGTGTGTGTGTGTGTGTGTAT	LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	23/34			chr2	TogoVar
LY75_chr2_159798355_159909756	159848093	T T	TATATACA others(19): Show TATATACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01192.hp2 HG01993.hp2 others(1): Show HG00738.hp2 HG01192.hp2 HG01993.hp2 HG02559.hp1	a0002 a0008 a0016 a0002 a0008 a0016	a0002c0002 a0008c0009 a0016c0027 a0002c0002 a0008c0009 a0016c0027	a0002c0002t0002 a0008c0009t0002 a0016c0027t0001 a0002c0002t0002 a0008c0009t0002 a0016c0027t0001	a0002c0002t0002g0061 a0008c0009t0002g0279 a0008c0009t0002g0292 others(1): Show a0002c0002t0002g0061 a0008c0009t0002g0279 a0008c0009t0002g0292 a0016c0027t0001g0280	4	330	0.0121	26	c.315 others(45): Show c.3150+1886_3150+1887insGTGTGTGTGTGTGTGTGTGTGTATAT	LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	23/34			chr2	TogoVar
LY75_chr2_159798355_159909756	159850773	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02809.hp1 HG02895.hp2 others(2): Show HG00735.hp1 HG02809.hp1 HG02895.hp2 HG02897.hp1 HG03130.hp2	a0004 a0019 a0042 a0004 a0019 a0042	a0004c0005 a0019c0020 a0042c0050 a0004c0005 a0019c0020 a0042c0050	a0004c0005t0001 a0019c0020t0001 a0042c0050t0002 a0004c0005t0001 a0019c0020t0001 a0042c0050t0002	a0004c0005t0001g0136 a0004c0005t0001g0140 a0004c0005t0001g0215 others(2): Show a0004c0005t0001g0136 a0004c0005t0001g0140 a0004c0005t0001g0215 a0019c0020t0001g0132 a0042c0050t0002g0124	5	330	0.0152	26	c.288 others(43): Show c.2884-332_2884-307dupATATATATATATATATATATATATAT	LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	21/34			chr2	TogoVar
LY75_chr2_159798355_159909756	159850789	T T	TATATATA others(19): Show TATATATATATATATATATATATAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18968.hp1 NA19088.hp2 HG02027.hp2 NA18968.hp1 NA19088.hp2	a0002 a0011 a0002 a0011	a0002c0002 a0011c0013 a0002c0002 a0011c0013	a0002c0002t0002 a0011c0013t0001 a0002c0002t0002 a0011c0013t0001	a0002c0002t0002g0004 a0011c0013t0001g0064 a0002c0002t0002g0004 a0011c0013t0001g0064	3	330	0.0091	26	c.288 others(43): Show c.2884-323_2884-322insTTTTATATATATATATATATATATAT	LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	21/34			chr2	TogoVar
LY75_chr2_159798355_159909756	159850789	T T	TATATATA others(19): Show TATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18957.hp2 NA18985.hp1 others(2): Show NA18941.hp1 NA18957.hp2 NA18985.hp1 NA19009.hp1 NA19082.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0068 a0002c0002t0002g0078 a0002c0002t0002g0081 others(2): Show a0002c0002t0002g0068 a0002c0002t0002g0078 a0002c0002t0002g0081 a0002c0002t0002g0086 a0002c0002t0002g0087	5	330	0.0152	26	c.288 others(43): Show c.2884-323_2884-322insTTATATATATATATATATATATATAT	LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	21/34			chr2	TogoVar
LY75_chr2_159798355_159909756	159850791	T T	TATATATA others(19): Show TATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG02257.hp1 HG01257.hp1 HG01258.hp1 HG02257.hp1	a0009 a0010 a0009 a0010	a0009c0012 a0010c0014 a0009c0012 a0010c0014	a0009c0012t0001 a0010c0014t0002 a0009c0012t0001 a0010c0014t0002	a0009c0012t0001g0231 a0010c0014t0002g0005 a0009c0012t0001g0231 a0010c0014t0002g0005	3	330	0.0091	26	c.288 others(43): Show c.2884-325_2884-324insTTATATATATATATATATATATATAT	LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	21/34			chr2	TogoVar
LY86_chr6_6583720_6659982	6585671	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	424	0.0024	26	c.-30 others(37): Show c.-3064_-3063insTATATATATATATATATATATATATA	LY86	ENSG00000112799.9	transcript	ENST00000230568.5	protein_coding		3048		chr6	TogoVar
LYN_chr8_55874835_56019169	55887575	T T	TATATACA others(19): Show TATATACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG06807.hp2 NA19000.hp2 others(1): Show HG02523.hp2 HG06807.hp2 NA19000.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0071 others(1): Show a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0071 a0001c0001t0004g0105	4	288	0.0139	26	c.-6+ others(41): Show c.-6+7473_-6+7474insTATACACACACACACACACACACACA	LYN	ENSG00000254087.8	transcript	ENST00000519728.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
LYN_chr8_55874835_56019169	55887575	T T	TATATATA others(19): Show TATATATACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01168.hp1 HG01175.hp2 others(17): Show HG00423.hp1 HG01168.hp1 HG01175.hp2 HG01261.hp1 HG01358.hp1 HG01884.hp2 HG01928.hp1 HG01975.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02622.hp1 HG03041.hp1 HG03486.hp2 NA18941.hp1 NA18952.hp1 NA19003.hp2 NA19091.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0030 a0001c0001t0036 others(4): Show a0001c0001t0001 a0001c0001t0030 a0001c0001t0036 a0001c0001t0039 a0001c0002t0001 a0001c0002t0017 a0001c0003t0005	a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0092 others(17): Show a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0001t0001g0240 a0001c0001t0030g0126 a0001c0001t0036g0015 a0001c0001t0039g0103 a0001c0002t0001g0095 a0001c0002t0017g0060 a0001c0002t0017g0061 a0001c0003t0005g0094	20	288	0.0694	26	c.-6+ others(41): Show c.-6+7473_-6+7474insTATATACACACACACACACACACACA	LYN	ENSG00000254087.8	transcript	ENST00000519728.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
LYN_chr8_55874835_56019169	55887575	T T	TATATATA others(19): Show TATATATATACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	288	0.0035	26	c.-6+ others(41): Show c.-6+7473_-6+7474insTATATATACACACACACACACACACA	LYN	ENSG00000254087.8	transcript	ENST00000519728.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
LYN_chr8_55874835_56019169	55911182	T T	TGCATATA others(19): Show TGCATATATATACACGTATATATATGC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0005 a0001c0002t0022g0005	1	288	0.0035	26	c.-5- others(43): Show c.-5-30673_-5-30672insGCATATATATACACGTATATATATGC	LYN	ENSG00000254087.8	transcript	ENST00000519728.6	protein_coding	1/12			chr8	TogoVar
LYN_chr8_55874835_56019169	55911250	T T	TGTGTGTG others(19): Show TGTGTGTGTGTGTATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0037 a0001c0001t0004g0037	1	288	0.0035	26	c.-5- others(43): Show c.-5-30597_-5-30596insGTGTATATATATATATACGTGTGTGT	LYN	ENSG00000254087.8	transcript	ENST00000519728.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
LYPD6B_chr2_149033699_149220262	149120361	G G	GTGTGTGT others(19): Show GTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	264	0.0038	26	c.-66 others(45): Show c.-66-10521_-66-10520insGTGTGTATATATATATATATATATAT	LYPD6B	ENSG00000150556.17	transcript	ENST00000409642.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
LYPD6B_chr2_149033699_149220262	149120383	A A	ATATATAT others(19): Show ATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	264	0.0038	26	c.-66 others(45): Show c.-66-10499_-66-10498insATATATATATATATATTTTTTTTTTT	LYPD6B	ENSG00000150556.17	transcript	ENST00000409642.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
LYPD6B_chr2_149033699_149220262	149120383	A A	ATATATAT others(19): Show ATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02451.hp1 NA20300.hp2 HG02258.hp2 HG02451.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0246 a0001c0001t0001g0249 a0001c0001t0001g0250	3	264	0.0114	26	c.-66 others(45): Show c.-66-10499_-66-10498insATATATATATTTTTTTTTTTTTTTTT	LYPD6B	ENSG00000150556.17	transcript	ENST00000409642.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
LYPD6B_chr2_149033699_149220262	149189365	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	264	0.0038	26	c.78- others(43): Show c.78-15885_78-15884insTATATATATATATATATATATACATA	LYPD6B	ENSG00000150556.17	transcript	ENST00000409642.8	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
LYPD6B_chr2_149033699_149220262	149189367	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp1 HG01884.hp2 others(6): Show HG00140.hp2 HG00544.hp1 HG01884.hp2 HG02027.hp1 HG02129.hp1 HG03669.hp2 NA18973.hp2 NA19007.hp1 NA19054.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0005 a0003c0003t0001 a0001c0001t0001 a0001c0001t0005 a0003c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0058 others(6): Show a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0058 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0116 a0001c0001t0001g0166 a0001c0001t0005g0069 a0003c0003t0001g0108	9	264	0.0341	26	c.78- others(43): Show c.78-15885_78-15884insTATATATATATATATATATATATACA	LYPD6B	ENSG00000150556.17	transcript	ENST00000409642.8	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
LYPD8_chr1_248734415_248760759	248753649	T T	TACCACAC others(19): Show TACCACACAGCCCACACAACACACACA	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	374	0.0027	26	c.-50 others(43): Show c.-50+1589_-50+1590insTGTGTGTGTTGTGTGGGCTGTGTGGT	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	2/6			chr1	TogoVar
LYPD8_chr1_248734415_248760759	248759962	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03209.hp2 NA18906.hp2 HG03139.hp1 HG03209.hp2 NA18906.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0002 a0001c0001t0005 a0004c0004t0001 a0001c0001t0002 a0001c0001t0005 a0004c0004t0001	a0001c0001t0002g0078 a0001c0001t0005g0080 a0004c0004t0001g0152 a0001c0001t0002g0078 a0001c0001t0005g0080 a0004c0004t0001g0152	3	374	0.0080	26	c.-44 others(37): Show c.-4456_-4455insTATATATATATATATATATATATATA	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding		4204		chr1	TogoVar
LYPLAL1_chr1_219168878_219217858	219217407	T T	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTGTGTGTGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	358	0.0028	26	c.56 others(37): Show c.5679_*5680insGTGTGTGTGTGTGTGTGTGTGTGTGA	LYPLAL1	ENSG00000143353.12	transcript	ENST00000366928.10	protein_coding		4550		chr1	TogoVar
LYRM1_chr16_20895771_20930006	20927049	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01109.hp2 HG01123.hp2 others(7): Show HG00639.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG02109.hp2 HG02683.hp2 NA18940.hp1 NA18966.hp1 NA18975.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0034 others(7): Show a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0034 a0001c0001t0001g0112 a0001c0001t0001g0124 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0219 a0001c0001t0002g0100	10	382	0.0262	26	c.29 others(37): Show c.2933_*2934insATATATATATATATATATATATATAT	LYRM1	ENSG00000102897.10	transcript	ENST00000567954.6	protein_coding		2044		chr16	TogoVar
LYRM4_chr6_5103419_5265950	5118094	A A	ATATATAT others(19): Show ATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18998.hp2 NA19000.hp2 NA18942.hp2 NA18998.hp2 NA19000.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0222 a0002c0002t0003g0225 a0002c0002t0003g0272 a0002c0002t0003g0222 a0002c0002t0003g0225 a0002c0002t0003g0272	3	286	0.0105	26	c.208 others(43): Show c.208-8604_208-8603insAAAAAAAAAATATATATATATATATA	LYRM4	ENSG00000214113.11	transcript	ENST00000330636.9	protein_coding	2/2			chr6	TogoVar
LYRM4_chr6_5103419_5265950	5118094	A A	ATATATAT others(19): Show ATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0223 a0002c0002t0003g0223	1	286	0.0035	26	c.208 others(43): Show c.208-8604_208-8603insAAAAAAAAAAAATATATATATATATA	LYRM4	ENSG00000214113.11	transcript	ENST00000330636.9	protein_coding	2/2			chr6	TogoVar
LYSMD1_chr1_151154748_151170902	151160238	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00733.hp2 HG00738.hp2 others(10): Show HG00099.hp1 HG00733.hp2 HG00738.hp2 HG01074.hp2 HG02486.hp2 HG02896.hp2 HG02965.hp2 HG03041.hp2 NA18950.hp1 NA18950.hp2 NA20129.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0010 a0003c0004t0010 a0001c0001t0010 a0003c0004t0010	a0001c0001t0010g0008 a0001c0001t0010g0107 a0001c0001t0010g0108 others(2): Show a0001c0001t0010g0008 a0001c0001t0010g0107 a0001c0001t0010g0108 a0001c0001t0010g0137 a0003c0004t0010g0133	13	344	0.0378	26	c.64 others(35): Show c.643_*644insTTTTTTTTTTTTTTTTTTTTTTTTTT	LYSMD1	ENSG00000163155.12	transcript	ENST00000368908.10	protein_coding	3/3	643		chr1	TogoVar
LYSMD3_chr5_90510626_90534584	90514755	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0028 a0001c0001t0003g0028	1	410	0.0024	26	c.40 others(37): Show c.4063_*4064insGTGTGTGTGTGTGTGTGTGTGTGTGT	LYSMD3	ENSG00000176018.13	transcript	ENST00000315948.11	protein_coding		870		chr5	TogoVar
LYZL2_chr10_30606779_30634753	30611722	G G	GAAAGAAA others(19): Show GAAAGAAAGAAAGAAAGAAAGAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	456	0.0022	26	c.23 others(35): Show c.232_*233insTTCTTTCTTTCTTTCTTTCTTTCTTT	LYZL2	ENSG00000151033.10	transcript	ENST00000647634.2	protein_coding		56		chr10	TogoVar
LZTS1_chr8_20241165_20308963	20274961	C C	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp2 HG02572.hp2 others(5): Show HG02055.hp2 HG02258.hp2 HG02572.hp2 HG02615.hp1 HG02647.hp1 HG02723.hp2 HG03098.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0013 a0001c0001 a0001c0002 a0001c0013	a0001c0001t0004 a0001c0001t0010 a0001c0001t0021 others(5): Show a0001c0001t0004 a0001c0001t0010 a0001c0001t0021 a0001c0001t0051 a0001c0002t0003 a0001c0002t0008 a0001c0002t0056 a0001c0013t0010	a0001c0001t0004g0023 a0001c0001t0010g0230 a0001c0001t0021g0391 others(5): Show a0001c0001t0004g0023 a0001c0001t0010g0230 a0001c0001t0021g0391 a0001c0001t0051g0380 a0001c0002t0003g0193 a0001c0002t0008g0194 a0001c0002t0056g0397 a0001c0013t0010g0231	8	406	0.0197	26	c.-13 others(47): Show c.-134-19647_-134-19646insCACACACACACACACACACACACA CA	LZTS1	ENSG00000061337.16	transcript	ENST00000381569.5	protein_coding	1/3			chr8	TogoVar
MACF1_chr1_39199695_39492138	39296815	G G	GAAGGAAG others(19): Show GAAGGAAGGAAGGAAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00735.hp1 HG01433.hp1 others(14): Show HG00544.hp2 HG00735.hp1 HG01433.hp1 HG02015.hp2 HG02132.hp1 HG02155.hp1 HG02523.hp1 HG02738.hp2 HG03239.hp1 NA18942.hp2 NA18960.hp1 NA18969.hp2 NA18973.hp1 NA19000.hp1 NA19010.hp2 NA19080.hp2 NA21309.hp2	a0001 a0007 a0017 others(1): Show a0001 a0007 a0017 a0044	a0001c0001 a0001c0018 a0007c0007 others(2): Show a0001c0001 a0001c0018 a0007c0007 a0017c0020 a0044c0032	a0001c0001t0001 a0001c0001t0006 a0001c0018t0002 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0018t0002 a0007c0007t0001 a0007c0007t0002 a0017c0020t0001 a0044c0032t0001	a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0045 others(14): Show a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0006g0066 a0001c0018t0002g0036 a0007c0007t0001g0056 a0007c0007t0001g0081 a0007c0007t0001g0082 a0007c0007t0001g0101 a0007c0007t0002g0054 a0007c0007t0002g0057 a0017c0020t0001g0085 a0017c0020t0001g0086 a0044c0032t0001g0102	17	246	0.0691	26	c.235 others(43): Show c.2356-791_2356-790insAAGAAAGAAAGAAAGGAAGGAAGGAA	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	20/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39393192	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0207 a0005c0008t0001g0207	1	246	0.0041	26	c.158 others(47): Show c.15816+4535_15816+4536insTATATATATATATATATATATATA TA	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	58/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACO1_chr1_25425897_25505209	25454466	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	282	0.0036	26	c.473 others(39): Show c.473+85_473+86insATATATATATATATATATATATATAT	MACO1	ENSG00000204178.11	transcript	ENST00000374343.5	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACROD2_chr20_13990516_16058197	14230669	C C	CCATATAT others(19): Show CCATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG03209.hp1 HG01168.hp2 HG03209.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0007 a0001c0001t0005 a0002c0002t0007	a0001c0001t0005g0003 a0002c0002t0007g0013 a0001c0001t0005g0003 a0002c0002t0007g0013	2	24	0.0833	26	c.271 others(47): Show c.271+144941_271+144942insCATATATATATATATATATATATA TA	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	3/17			chr20	TogoVar
MACROD2_chr20_13990516_16058197	14322175	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0006 a0001c0001t0013g0006	1	24	0.0417	26	c.272 others(47): Show c.272-171303_272-171278dupATATATATATATATATATATATAT AT	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MACROD2_chr20_13990516_16058197	15869238	T T	TATATATA others(19): Show TATATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0007 a0002c0002t0010g0007	1	24	0.0417	26	c.727 others(43): Show c.727+6413_727+6414insTATATATATATATATAGAGAGAGAGA	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MACROD2_chr20_13990516_16058197	15876109	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	24	0.0417	26	c.728 others(43): Show c.728-9652_728-9651insATATATATATATATATATATATGTAT	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MACROD2_chr20_13990516_16058197	16056137	C C	CTCTTTCT others(19): Show CTCTTTCTTTCTTTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0013 a0002c0002t0007g0013	1	24	0.0417	26	c.62 others(37): Show c.6261_*6262insTCTTTCTTTCTTTTTCTTTCTTTCTT	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding		2941		chr20	TogoVar
MAD1L1_chr7_1810795_2237945	1822442	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	264	0.0038	26	c.199 others(45): Show c.1999-6215_1999-6214insAATATATATATATATATATATATATA	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	18/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1870941	T T	TGCTGAAC others(19): Show TGCTGAACCCACCGTAACACCTGCCAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp2 HG00099.hp1 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0189 a0001c0001t0001g0131 a0001c0001t0001g0189	2	264	0.0076	26	c.199 others(47): Show c.1998+27233_1998+27258dupGTGGCAGGTGTTACGGTGGGTTCA GC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	18/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1929386	T T	TGGCCCAG others(19): Show TGGCCCAGCCTGGACGTGGCAGGGGGG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0203 a0002c0005t0001g0203	1	264	0.0038	26	c.180 others(45): Show c.1807+7275_1807+7300dupCCCCCCTGCCACGTCCAGGCTGGGCC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1929944	C C	CACTGCCA others(19): Show CACTGCCACGTCCCACCGCCACGTCCA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0066 a0001c0003t0001g0066	1	264	0.0038	26	c.180 others(45): Show c.1807+6742_1807+6743insTGGACGTGGCGGTGGGACGTGGCAGT	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1930350	C C	CCCCACTG others(19): Show CCCCACTGCCACGTCCCCTCGCCCCGT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp2 HG01069.hp1 others(7): Show HG00639.hp1 HG00735.hp2 HG01069.hp1 HG01099.hp2 HG01496.hp1 HG02293.hp1 HG02523.hp1 HG03927.hp1 HG04115.hp1 HG04199.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0001 a0001c0004t0003 a0001c0003t0001 a0001c0004t0001 a0001c0004t0003	a0001c0003t0001g0132 a0001c0004t0001g0093 a0001c0004t0001g0094 others(7): Show a0001c0003t0001g0132 a0001c0004t0001g0093 a0001c0004t0001g0094 a0001c0004t0001g0097 a0001c0004t0001g0099 a0001c0004t0001g0100 a0001c0004t0001g0205 a0001c0004t0003g0118 a0001c0004t0003g0119 a0001c0004t0003g0180	10	264	0.0379	26	c.180 others(45): Show c.1807+6336_1807+6337insACGGGGCGAGGGGACGTGGCAGTGGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar

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