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
KHSRP_chr19_6408102_6429811	6429100	T T	TATATATA others(101): Show TATATATAATATATATATTATATATATGTTATATATATATATAATATATA TATTATATATATGTTACATATATATAATATATATATTATATATATTATAT ATATGTTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA19000.hp2 NA19068.hp2 NA18953.hp1 NA19000.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0002 a0001c0001t0014	a0001c0001t0002g0156 a0001c0001t0002g0158 a0001c0001t0014g0013 a0001c0001t0002g0156 a0001c0001t0002g0158 a0001c0001t0014g0013	3	386	0.0078	108	c.-44 others(119): Show c.-4400_-4399insGTAACATATATATAATATATATAATATATATATT ATATATATGTAACATATATATAATATATATATTATATATATATATAACAT ATATATAATATATATATTATATAT	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4290		chr19	TogoVar
KIAA0930_chr22_45187244_45245894	45229168	G G	GCCATCAC others(101): Show GCCATCACCACTCACCTGAGATCCCTCTCCACCCCCCAACCACCACTCAC CTGAGATCCCTCTCCACCCCCGCCATCACCACTCACCTGAAAGATCCCTC TCCACATCC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02970.hp1 NA18522.hp1 others(2): Show HG02451.hp1 HG02970.hp1 NA18522.hp1 NA19054.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0055 a0001c0001t0082 a0001c0001t0017 a0001c0001t0055 a0001c0001t0082	a0001c0001t0017g0039 a0001c0001t0017g0042 a0001c0001t0017g0048 others(2): Show a0001c0001t0017g0039 a0001c0001t0017g0042 a0001c0001t0017g0048 a0001c0001t0055g0077 a0001c0001t0082g0041	5	398	0.0126	108	c.64+ others(125): Show c.64+11471_64+11472insGGATGTGGAGAGGGATCTTTCAGGTGAG TGGTGATGGCGGGGGTGGAGAGGGATCTCAGGTGAGTGGTGGTTGGGGGG TGGAGAGGGATCTCAGGTGAGTGGTGATGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45229265	A A	AAAGATCC others(101): Show AAAGATCCCTCTCCACCCCCCAACCACCACTCACCTGAGAGATCCCTCTC CACCCCCGCCATCACCACTCACCTGAGATCCCTCTCCACCCCCCAACCAC CACTCACCT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0142 a0001c0001t0142	a0001c0001t0142g0044 a0001c0001t0142g0044	1	398	0.0025	108	c.64+ others(125): Show c.64+11374_64+11375insAGGTGAGTGGTGGTTGGGGGGTGGAGAG GGATCTCAGGTGAGTGGTGATGGCGGGGGTGGAGAGGGATCTCTCAGGTG AGTGGTGGTTGGGGGGTGGAGAGGGATCTT	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIF1A_chr2_240708767_240825219	240780928	A A	ACACACAC others(101): Show ACACACACACACACACACAGCGCCACACACACACAGCTCCACACACACAC ACAGCTCCACACACACACAGCTCCACACACACACACACAGCTCCACACAC ACACAGCTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01167.hp2 HG01168.hp2 others(4): Show HG00099.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01261.hp2 HG02004.hp1 HG02895.hp2	a0002 a0002	a0002c0002 a0002c0013 a0002c0002 a0002c0013	a0002c0002t0002 a0002c0002t0006 a0002c0002t0007 others(1): Show a0002c0002t0002 a0002c0002t0006 a0002c0002t0007 a0002c0013t0003	a0002c0002t0002g0192 a0002c0002t0002g0193 a0002c0002t0002g0194 others(4): Show a0002c0002t0002g0192 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0006g0215 a0002c0002t0006g0216 a0002c0002t0007g0111 a0002c0013t0003g0214	7	330	0.0212	108	c.882 others(125): Show c.882+1661_882+1662insGAGCTGTGTGTGTGTGGAGCTGTGTGTG TGTGTGTGGAGCTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGGAGCTGTG TGTGTGTGGCGCTGTGTGTGTGTGTGTGTG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar
KLHL1_chr13_69695597_70113452	69721062	G G	GATATATA others(101): Show GATATATATATATATATATATATATATATATATATATACAAATTCCTTGT AAGGGAGGTACATAGCTTTATATATATATATATATATATATATATATATA TATATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0005 a0003c0006t0005	a0003c0006t0005g0005 a0003c0006t0005g0005	1	182	0.0055	108	c.180 others(127): Show c.1803-1482_1803-1481insATATATATATATATATATATATATAT ATATATATATATATAAAGCTATGTACCTCCCTTACAAGGAATTTGTATAT ATATATATATATATATATATATATATATATAT	KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	8/10			chr13	TogoVar
KLHL1_chr13_69695597_70113452	69721062	G G	GATATATA others(101): Show GATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATACAAATTCCTTGTAAGGGAGGTACATAGCTTTA TATATATAT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02273.hp2 HG01993.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0033 a0001c0001t0001g0036	2	182	0.0110	108	c.180 others(127): Show c.1803-1482_1803-1481insATATATATATAAAGCTATGTACCTCC CTTACAAGGAATTTGTATATATATATATATATATATATATATATATATAT ATATATATATATATATATATATATATATATAT	KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	8/10			chr13	TogoVar
KLHL6_chr3_183482551_183560706	183534073	C C	CCTTTAAA others(101): Show CCTTTAAAAGTACTTTACTTTTAAAGTACTTTAAAAGTACTTTACTTTTA AAGTACTTTAAAAGTACTTTACTTTTAAAGTACTTTAAAAGTACTTTACT TTTAAAGTA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00621.hp1 HG01256.hp1 others(23): Show HG00558.hp2 HG00621.hp1 HG01256.hp1 HG01257.hp1 HG01261.hp2 HG01981.hp1 HG02132.hp1 HG02135.hp1 HG02258.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02886.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03831.hp1 NA18954.hp2 NA18955.hp2 NA18980.hp1 NA19004.hp1 NA19043.hp2 NA19062.hp2 NA19240.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0011 a0001c0014 a0001c0017 a0005c0018	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(14): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0015 a0001c0001t0034 a0001c0001t0037 a0001c0001t0083 a0001c0001t0096 a0001c0001t0097 a0001c0002t0071 a0001c0004t0049 a0001c0011t0002 a0001c0014t0062 a0001c0017t0073 a0005c0018t0024	a0001c0001t0001g0103 a0001c0001t0001g0111 a0001c0001t0001g0155 others(23): Show a0001c0001t0001g0103 a0001c0001t0001g0111 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0222 a0001c0001t0001g0230 a0001c0001t0001g0266 a0001c0001t0004g0113 a0001c0001t0005g0110 a0001c0001t0005g0125 a0001c0001t0006g0109 a0001c0001t0006g0133 a0001c0001t0006g0171 a0001c0001t0007g0120 a0001c0001t0015g0276 a0001c0001t0034g0246 a0001c0001t0037g0190 a0001c0001t0083g0183 a0001c0001t0096g0140 a0001c0001t0097g0262 a0001c0002t0071g0180 a0001c0004t0049g0255 a0001c0011t0002g0232 a0001c0014t0062g0218 a0001c0017t0073g0177 a0005c0018t0024g0187	26	298	0.0873	108	c.294 others(125): Show c.294-6064_294-6063insTACTTTAAAAGTAAAGTACTTTTAAAGT ACTTTAAAAGTAAAGTACTTTTAAAGTACTTTAAAAGTAAAGTACTTTTA AAGTACTTTAAAAGTAAAGTACTTTTAAAG	KLHL6	ENSG00000172578.12	transcript	ENST00000341319.8	protein_coding	1/6			chr3	TogoVar
KLHL6_chr3_183482551_183560706	183534073	C C	CCTTTAAA others(101): Show CCTTTAAAAGTACTTTACTTTTAAGGTACTTTAAAAGTACTTTACTTTTA AGGTACTTTAAAAGTACTTTACTTTTAAGGTACTTTAAAAGTACTTTACT TTTAAGGTA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0079 a0001c0002t0079	a0001c0002t0079g0085 a0001c0002t0079g0085	1	298	0.0034	108	c.294 others(125): Show c.294-6064_294-6063insTACCTTAAAAGTAAAGTACTTTTAAAGT ACCTTAAAAGTAAAGTACTTTTAAAGTACCTTAAAAGTAAAGTACTTTTA AAGTACCTTAAAAGTAAAGTACTTTTAAAG	KLHL6	ENSG00000172578.12	transcript	ENST00000341319.8	protein_coding	1/6			chr3	TogoVar
KLRB1_chr12_9589551_9612916	9607335	C C	CCTTCCTT others(101): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0114 a0002c0002t0001g0114	1	436	0.0023	108	c.85+ others(121): Show c.85+419_85+420insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAG	KLRB1	ENSG00000111796.4	transcript	ENST00000229402.4	protein_coding	1/5			chr12	TogoVar
KNDC1_chr10_133155219_133231412	133163979	G G	GCCACCTG others(101): Show GCCACCTGCCTTCCCAAATCCCTCCTCCCACCTGGGATGGGGGTGGAGTT CGTGGCCACCTGCCTTCCCAAATCCCTCCTCCCACGTGGGATGGGGGTGG AGTTCATGT	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA20300.hp1 HG02145.hp1 NA20300.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0001 a0003c0011t0001	a0003c0011t0001g0153 a0003c0011t0001g0154 a0003c0011t0001g0153 a0003c0011t0001g0154	2	332	0.0060	108	c.103 others(125): Show c.103-3372_103-3371insCTGGGATGGGGGTGGAGTTCGTGGCCAC CTGCCTTCCCAAATCCCTCCTCCCACGTGGGATGGGGGTGGAGTTCATGT CCACCTGCCTTCCCAAATCCCTCCTCCCAC	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
KREMEN1_chr22_29068035_29151820	29120026	G G	GGGAGGAG others(101): Show GGGAGGAGGGAGAGGTGATGATGGAAATGGAGGAGGGAGAGGTGATGAAG GAAATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTG ATGATGGAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0198 a0001c0001t0006g0198	1	368	0.0027	108	c.353 others(125): Show c.353-1331_353-1330insGGAGGAGGGAGAGGTGATGATGGAAATG GAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGA AACAGGGAGGAGGGAGAGGTGATGATGGAA	KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	3/8			chr22	TogoVar
KRTAP19-7_chr21_30555875_30566314	30562375	A A	ATATATAT others(101): Show ATATATATATATATATATATATATATATATATACACGTATATATATATAT ATACATATATATATATATACACGTATATATATATATATACATATATATAT ATATATACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	422	0.0024	108	c.-10 others(119): Show c.-1087_-1086insCGTATATATATATATATATGTATATATATATATA TACGTGTATATATATATATATGTATATATATATATATACGTGTATATATA TATATATATATATATATATATATA	KRTAP19-7	ENSG00000244362.3	transcript	ENST00000334849.2	protein_coding		1062		chr21	TogoVar
L3MBTL4_chr18_5949717_6419911	6003021	A A	AAGTATCT others(101): Show AAGTATCTCTATTTATAGAGATGATACTATATAAAATATAGTATCTCTAT TTATAGAGATACTATATAAAATATAGTATCTCTATTTATAGAGATACTAT ATAAAATAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	94	0.0106	108	c.144 others(129): Show c.1445-33460_1445-33459insATATTTTATATAGTATCTCTATAA ATAGAGATACTATATTTTATATAGTATCTCTATAAATAGAGATACTATAT TTTATATAGTATCATCTCTATAAATAGAGATACT	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	16/18			chr18	TogoVar
LCN15_chr9_136754634_136769518	136769383	C C	CCCCGCCA others(101): Show CCCCGCCACCCCCCATGCACTGCCCCCCCCGACACCCCGACACCCCCCAT GCACTGCCCCCCCGCCACCCCGCCACCCCCCATGCACTGCCCCCCCCGAC ACCCCGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG02922.hp2 HG06807.hp1 others(1): Show HG02735.hp1 HG02922.hp2 HG06807.hp1 NA18959.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	4	356	0.0112	108	c.-48 others(119): Show c.-4896_-4895insTGTCGGGGTGTCGGGGGGGGCAGTGCATGGGGGG TGGCGGGGTGGCGGGGGGGCAGTGCATGGGGGGTGTCGGGGTGTCGGGGG GGGCAGTGCATGGGGGGTGGCGGG	LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding		4866		chr9	TogoVar
LCN15_chr9_136754634_136769518	136769477	A A	ACCCCCGC others(101): Show ACCCCCGCCACCCCTCCATGCACTGCCCCCCCCGCCACCCCTCCATGCAC TGCCCCCCCCGCCACCCCTCCATGCACTGCCCCCCCCCGCCACCCCTCCA TGCACTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	356	0.0028	108	c.-49 others(119): Show c.-4990_-4989insGGCAGTGCATGGAGGGGTGGCGGGGGGGGGCAGT GCATGGAGGGGTGGCGGGGGGGGCAGTGCATGGAGGGGTGGCGGGGGGGG CAGTGCATGGAGGGGTGGCGGGGG	LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding		4960		chr9	TogoVar
LFNG_chr7_2514774_2533429	2514816	G G	GTCCATCC others(101): Show GTCCATCCATCCATCCATCCATCCATCCATTCATCTGTCCATCCATCCAT CCATCCATCTATCCATCCATCCATCCATCCATTCATCTGTCCATCCATCC ATCCATCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	414	0.0024	108	c.-50 others(119): Show c.-5046_-5045insTCCATCCATCCATCCATCCATCCATCCATTCATC TGTCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATTCA TCTGTCCATCCATCCATCCATCCA	LFNG	ENSG00000106003.14	transcript	ENST00000222725.10	protein_coding		4957		chr7	TogoVar
LHPP_chr10_124456823_124619141	124471465	T T	TTTATATA others(101): Show TTTATATATATTTTTATATATATTCGTATATATTTATATATATTTTATAT ATATATTCGTATATATTTATATATATTTTTTATATATTTATATATATATA TTATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00735.hp1 others(16): Show HG00099.hp2 HG00408.hp2 HG00735.hp1 HG01123.hp1 HG01361.hp1 HG02135.hp1 HG02523.hp2 HG02683.hp1 HG03831.hp1 HG03927.hp2 NA18942.hp1 NA18950.hp1 NA18954.hp1 NA18986.hp2 NA18990.hp2 NA19068.hp2 NA19077.hp1 NA19091.hp2 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0001c0001t0003 a0004c0007t0003 a0001c0001t0001 a0001c0001t0003 a0004c0007t0003	a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0036 others(16): Show a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0074 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0109 a0001c0001t0001g0181 a0001c0001t0001g0191 a0001c0001t0001g0216 a0001c0001t0003g0205 a0004c0007t0003g0215	19	260	0.0731	108	c.125 others(125): Show c.125+9479_125+9480insTATATATATTTTTATATATATTCGTATA TATTTATATATATTTTATATATATATTCGTATATATTTATATATATTTTT TATATATTTATATATATATATTATATATAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LIPG_chr18_49557057_49604185	49579001	G G	GGGGAGAG others(101): Show GGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01069.hp2 HG01071.hp2 others(3): Show HG00438.hp1 HG01069.hp2 HG01071.hp2 NA18974.hp1 NA19056.hp1 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0008 a0001c0001t0037 others(2): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0037 a0001c0001t0044 a0002c0002t0023	a0001c0001t0001g0226 a0001c0001t0008g0002 a0001c0001t0037g0077 others(2): Show a0001c0001t0001g0226 a0001c0001t0008g0002 a0001c0001t0037g0077 a0001c0001t0044g0238 a0002c0002t0023g0307	6	384	0.0156	108	c.794 others(125): Show c.794-2284_794-2177dupAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGG	LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
LMF1_chr16_848634_975984	961414	C C	CAGACTCA others(101): Show CAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCACGGT GACAGCACGGGATCACGACCCAGACAGACTCACGGTGACAGCACGGGATC ACGACCCAG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0248 a0001c0005t0001g0248	1	294	0.0034	108	c.194 others(125): Show c.194-6749_194-6748insCTGGGTCGTGATCCCGTGCTGTCACCGT GAGTCTGTCTGGGTCGTGATCCCGTGCTGTCACCGTGAGTCTGTGTCTGG GTCGTGATCCCGTGCTGTCACCGTGAGTCT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
LMF1_chr16_848634_975984	961602	C C	CAGACTCA others(101): Show CAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCACGGT GACAGCACGGGATCACGACCCAGACAGACTCACGGTGACAGCACGGGATC ACGACCCAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01081.hp1 HG01361.hp2 others(4): Show HG00323.hp2 HG01081.hp1 HG01361.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp2 HG02300.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0001c0010 a0002c0054 a0001c0005 a0001c0010 a0002c0054	a0001c0005t0001 a0001c0005t0012 a0001c0010t0001 others(1): Show a0001c0005t0001 a0001c0005t0012 a0001c0010t0001 a0002c0054t0001	a0001c0005t0001g0111 a0001c0005t0001g0112 a0001c0005t0001g0113 others(4): Show a0001c0005t0001g0111 a0001c0005t0001g0112 a0001c0005t0001g0113 a0001c0005t0001g0116 a0001c0005t0012g0110 a0001c0010t0001g0115 a0002c0054t0001g0114	7	294	0.0238	108	c.194 others(125): Show c.194-6937_194-6936insCTGGGTCGTGATCCCGTGCTGTCACCGT GAGTCTGTCTGGGTCGTGATCCCGTGCTGTCACCGTGAGTCTGTGTCTGG GTCGTGATCCCGTGCTGTCACCGTGAGTCT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
LMLN_chr3_197955217_198048720	198004562	C C	CATCTATC others(101): Show CATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTTT GCCATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGT TTGCCATCT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02886.hp1 HG02451.hp2 HG02886.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0012 a0002c0002t0002g0013	2	258	0.0078	108	c.131 others(127): Show c.1319+1443_1319+1444insCTATATATCATCTATACAGATACATA TCATACGTAGTAAGTTTGCCATCTATCTATATATCATCTATACAGATACA TATCATACGTAGTAAGTTTGCCATCTATCTAT	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
LOC114841035_chr11_64236095_64249132	64237126	G G	GAGAGAGA others(101): Show GAGAGAGAGAGAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATATATATATATAT ATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	330	0.0030	108	c.-41 others(119): Show c.-4154_-4153insAGAGAGAGAGAAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GATATATATATATATATATATATA	LOC114841035	ENSG00000286264.2	transcript	ENST00000652762.2	protein_coding		3968		chr11	TogoVar
LRBA_chr4_150259435_151020284	150658505	G G	GTCTCCCT others(101): Show GTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCC	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0147 a0002c0003t0002g0147	1	180	0.0056	108	c.592 others(129): Show c.5921+24938_5921+25045dupGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	37/56			chr4	TogoVar
LRCH3_chr3_197786254_197893436	197876950	G G	GCAGTGAT others(101): Show GCAGTGATTCTCTTTACCCAACTCACCGCACCCATGACAGTGATTCTCTT TACCCAACTCACCGCACCCATGACAGTGATTCTCTTTACCCAACTCACCG CACCCATGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02818.hp2 HG03130.hp2 HG02622.hp2 HG02818.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0070 a0001c0001t0011g0074 a0001c0001t0011g0078 a0001c0001t0011g0070 a0001c0001t0011g0074 a0001c0001t0011g0078	3	292	0.0103	108	c.220 others(127): Show c.2208+1210_2208+1211insACAGTGATTCTCTTTACCCAACTCAC CGCACCCATGACAGTGATTCTCTTTACCCAACTCACCGCACCCATGACAG TGATTCTCTTTACCCAACTCACCGCACCCATG	LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRCH3_chr3_197786254_197893436	197877007	C C	CTCACCGC others(101): Show CTCACCGCACCCATGGCAGTGATTCTCTTTACCCAGTTCACCGCACCCAT GACAGTGATTCTCTTTACCCAGTTCACCGCACCCATGGCAGTGATTCTCT TTACCCAGT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA20905.hp2 NA19009.hp1 NA20905.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0028 a0002c0003t0002 a0002c0003t0028	a0002c0003t0002g0112 a0002c0003t0028g0184 a0002c0003t0002g0112 a0002c0003t0028g0184	2	292	0.0069	108	c.220 others(127): Show c.2208+1266_2208+1267insGTTCACCGCACCCATGACAGTGATTC TCTTTACCCAGTTCACCGCACCCATGGCAGTGATTCTCTTTACCCAGTTC ACCGCACCCATGGCAGTGATTCTCTTTACCCA	LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRCH3_chr3_197786254_197893436	197877094	G G	GCAGTGAT others(101): Show GCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCTT TACCCAACTCACCGCACCCATGACAGTGATTCTCTTTACCCAACTCACCG CACCCATGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0146 a0001c0001t0066g0146	1	292	0.0034	108	c.220 others(127): Show c.2208+1390_2208+1391insACAGTGATTCTCTTTACCCAACTCAC CGCACCCATGACAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAG TGATTCTCTTTACCCAACTCACCGCACCCATG	LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRCH3_chr3_197786254_197893436	197877187	T T	TTCACCGC others(101): Show TTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCAT GGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCT TTACCCAGT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0085 a0001c0001t0062g0085	1	292	0.0034	108	c.220 others(127): Show c.2208+1627_2208+1734dupGTTCACCGCACCCATGGCAGTGATTC TCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTC ACCGCACCCATGGCAGTGATTCTCTTTACCCA	LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRCH3_chr3_197786254_197893436	197877202	G G	GCAGTGAT others(101): Show GCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCTT TACCCAACTCACCGCACCCATGACAGTGATTCTCTTTACCCAACTCACCG CACCCATGA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0161 a0001c0007t0006g0161	1	292	0.0034	108	c.220 others(127): Show c.2208+1498_2208+1499insACAGTGATTCTCTTTACCCAACTCAC CGCACCCATGACAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAG TGATTCTCTTTACCCAACTCACCGCACCCATG	LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRCH3_chr3_197786254_197893436	197877310	G G	GCAGTGAT others(101): Show GCAGTGATTCTCTTTACCCAGTTCACCGCACCCATGGCAGTGATTCTCTT TACCCAACTCACCGCACCCATGACAGTGATTCTCTTTACCCAACTCACCG CACCCATGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0136 a0001c0001t0011g0136	1	292	0.0034	108	c.220 others(127): Show c.2208+1554_2208+1555insGTTCACCGCACCCATGGCAGTGATTC TCTTTACCCAACTCACCGCACCCATGACAGTGATTCTCTTTACCCAACTC ACCGCACCCATGACAGTGATTCTCTTTACCCA	LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRCH3_chr3_197786254_197893436	197877403	T T	TTCACCGC others(101): Show TTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCAT GACAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCT TTACCCAAC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02080.hp1 HG02071.hp1 HG02080.hp1	a0002 a0008 a0002 a0008	a0002c0003 a0008c0014 a0002c0003 a0008c0014	a0002c0003t0002 a0008c0014t0009 a0002c0003t0002 a0008c0014t0009	a0002c0003t0002g0094 a0008c0014t0009g0224 a0002c0003t0002g0094 a0008c0014t0009g0224	2	292	0.0069	108	c.220 others(127): Show c.2208+1678_2208+1679insACAGTGATTCTCTTTACCCAACTCAC CGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAG TGATTCTCTTTACCCAACTCACCGCACCCATG	LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRCH3_chr3_197786254_197893436	197877439	C C	CTCACCGC others(101): Show CTCACCGCACCCATGACAGTGATTCTCTTTACCCAACTCACCGCACCCAT GGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCT TTACCCAGT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00738.hp1 HG01515.hp1 others(6): Show HG00733.hp2 HG00738.hp1 HG01515.hp1 HG02135.hp2 HG02723.hp2 HG03927.hp2 HG04204.hp1 NA19043.hp2 NA19058.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0062 a0002c0003t0002 a0002c0003t0009 others(2): Show a0001c0001t0062 a0002c0003t0002 a0002c0003t0009 a0002c0003t0031 a0002c0003t0039	a0001c0001t0062g0085 a0002c0003t0002g0060 a0002c0003t0002g0115 others(6): Show a0001c0001t0062g0085 a0002c0003t0002g0060 a0002c0003t0002g0115 a0002c0003t0002g0139 a0002c0003t0002g0160 a0002c0003t0009g0052 a0002c0003t0009g0244 a0002c0003t0031g0089 a0002c0003t0039g0037	9	292	0.0308	108	c.220 others(127): Show c.2208+1678_2208+1679insACAGTGATTCTCTTTACCCAACTCAC CGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAG TGATTCTCTTTACCCAGTTCACCGCACCCATG	LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRCH3_chr3_197786254_197893436	197877547	C C	CTCACCGC others(101): Show CTCACCGCACCCATGACAGTGATTCTCTTTACCCAACTCACCGCACCCAT GACAGTGATTCTCTTTACCCAGTTCACCGCACCCATGGCAGTGATTCTCT TTACCCAGT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0012 a0001c0012t0012	a0001c0012t0012g0048 a0001c0012t0012g0048	1	292	0.0034	108	c.220 others(127): Show c.2208+1806_2208+1807insACTCACCGCACCCATGACAGTGATTC TCTTTACCCAGTTCACCGCACCCATGGCAGTGATTCTCTTTACCCAGTTC ACCGCACCCATGACAGTGATTCTCTTTACCCA	LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRCH3_chr3_197786254_197893436	197877547	C C	CTCACCGC others(101): Show CTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCAT GGCAGTGATTCTCTTTACCCAGTTCACCGCACCCATGGCAGTGATTCTCT TTACCCAGT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0161 a0001c0007t0006g0161	1	292	0.0034	108	c.220 others(127): Show c.2208+1786_2208+1787insGCAGTGATTCTCTTTACCCAACTCAC CGCACCCATGGCAGTGATTCTCTTTACCCAGTTCACCGCACCCATGGCAG TGATTCTCTTTACCCAGTTCACCGCACCCATG	LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRRC27_chr10_132327193_132386508	132356351	G G	GCCAAGAT others(101): Show GCCAAGATTGCCAGCTCTTAAGCTATGGGACATGGGATATCCTGAGTACC GTCCCCCAAGATTGCCAGCTCTTAAGCTATGGGACATGGGATATCCTGAG TACCGTCCC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0110 a0001c0010t0001g0110	1	290	0.0035	108	c.117 others(125): Show c.1170+514_1170+515insGTCCCCCAAGATTGCCAGCTCTTAAGCT ATGGGACATGGGATATCCTGAGTACCGTCCCCCAAGATTGCCAGCTCTTA AGCTATGGGACATGGGATATCCTGAGTACC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRK2_chr12_40219997_40374285	40298860	A A	ATATTATA others(101): Show ATATTATATATATACTATATATAATACTTATTATATATATACTATATATA ATACTTATTATATATATACTATATATAATACTTATTATATATATACTATA TATAATACT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02280.hp2 HG03195.hp1 others(1): Show HG02257.hp1 HG02280.hp2 HG03195.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0011 a0001c0002t0002 a0001c0002t0011	a0001c0002t0002g0070 a0001c0002t0002g0091 a0001c0002t0011g0304 others(1): Show a0001c0002t0002g0070 a0001c0002t0002g0091 a0001c0002t0011g0304 a0001c0002t0011g0305	4	382	0.0105	108	c.334 others(125): Show c.3348-182_3348-181insCTATATATAATACTTATTATATATATAC TATATATAATACTTATTATATATATACTATATATAATACTTATTATATAT ATACTATATATAATACTTATTATATATATA	LRRK2	ENSG00000188906.17	transcript	ENST00000298910.12	protein_coding	24/50		INFO_REALIGN_3_PRIME	chr12	TogoVar
LTBP2_chr14_74493183_74617237	74564115	A A	ATATATTT others(101): Show ATATATTTATATATATTTATATATATATATTTATATATATTTATATATAT ATTTATATATATATTTATATATATTTATATATATTTATATATATATTTAT ATATATATT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01257.hp1 HG01258.hp1 others(1): Show HG01175.hp2 HG01257.hp1 HG01258.hp1 HG03540.hp1	a0002 a0002	a0002c0004 a0002c0006 a0002c0004 a0002c0006	a0002c0004t0001 a0002c0006t0002 a0002c0006t0006 a0002c0004t0001 a0002c0006t0002 a0002c0006t0006	a0002c0004t0001g0143 a0002c0006t0002g0004 a0002c0006t0006g0043 a0002c0004t0001g0143 a0002c0006t0002g0004 a0002c0006t0006g0043	4	282	0.0142	108	c.831 others(125): Show c.831-8423_831-8422insAATATATATATAAATATATATATAAATA TATATAAATATATATAAATATATATATAAATATATATATAAATATATATA AATATATATATATAAATATATATAAATATA	LTBP2	ENSG00000119681.12	transcript	ENST00000261978.9	protein_coding	3/35			chr14	TogoVar
LTBP2_chr14_74493183_74617237	74564309	A A	ATATATAT others(101): Show ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATATTTATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATATT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0013 a0001c0001t0004g0013	1	282	0.0036	108	c.831 others(125): Show c.831-8617_831-8616insAATATATATATAAATATATATAAATATA TATATAAATATATATAAATATATATAAATATATATATAAATATATATATA AATATATATAAATATATATATAAATATATA	LTBP2	ENSG00000119681.12	transcript	ENST00000261978.9	protein_coding	3/35			chr14	TogoVar
LTBP3_chr11_65533559_65563359	65540703	C C	CGGGCGGG others(101): Show CGGGCGGGGCCTACAGGAGGGGCGGGGCCTACAGGAGGGGCGGGGCCTAC AGGAGGGGCGGGGCCTACAGGAGGGGCGGGGCCTACAGGAGGGGCGGGGC CTACAGGAG	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA19074.hp2 NA18989.hp1 NA19074.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0041 a0004c0005t0001g0041	2	316	0.0063	108	c.297 others(123): Show c.2978-90_2978-89insCTCCTGTAGGCCCCGCCCCTCCTGTAGGCC CCGCCCCTCCTGTAGGCCCCGCCCCTCCTGTAGGCCCCGCCCCTCCTGTA GGCCCCGCCCCTCCTGTAGGCCCCGCCC	LTBP3	ENSG00000168056.18	transcript	ENST00000301873.11	protein_coding	21/27			chr11	TogoVar
LUC7L_chr16_183990_234449	186812	C C	CGGGAGGA others(101): Show CGGGAGGAACAGCGACACGGGAGGAACAGCGACACGGGAGGGAGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGAGGAACA GCGACACGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	350	0.0029	108	c.23 others(119): Show c.2385_*2386insCCGTGTCGCTGTTCCTCCCGTGTCGCTGTTCCCC CCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCTCCCGTGTCGCTGT TCCTCCCGTGTCGCTGTTCCTCCC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2177		chr16	TogoVar
LUZP2_chr11_24492053_25087638	24919187	G G	GTTATATA others(101): Show GTTATATATGACATATATTGATAATATATGTTATATATTATATATGACAT ATATTGATAATATATGTTATATATTATATATGACATATATTGATAATATA TGTTATATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	116	0.0086	108	c.522 others(125): Show c.522+4838_522+4945dupGACATATATTGATAATATATGTTATATA TTATATATGACATATATTGATAATATATGTTATATATTATATATGACATA TATTGATAATATATGTTATATATTATATAT	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
LY6E_chr8_143013529_143027409	143014597	T T	TGTGTGAG others(101): Show TGTGTGAGGAGGAGGGAGTGCCGTGTGAGGAGGAGGGAGTCCCGTGTGAG GAGGAGGGAGTGCTGTGTGAGGAGGAGGAGGGAGTCCTGTGTGAGGAGGA GGGAGTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01168.hp1 HG01169.hp1 others(1): Show HG00323.hp1 HG01168.hp1 HG01169.hp1 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	4	377	0.0106	108	c.-40 others(119): Show c.-4047_-4046insGTGTGAGGAGGAGGGAGTGCCGTGTGAGGAGGAG GGAGTCCCGTGTGAGGAGGAGGGAGTGCTGTGTGAGGAGGAGGAGGGAGT CCTGTGTGAGGAGGAGGGAGTCCC	LY6E	ENSG00000160932.11	transcript	ENST00000292494.11	protein_coding		3931		chr8	TogoVar
LY75_chr2_159798355_159909756	159874577	C C	CATATTTT others(101): Show CATATTTTGTAAATCTATATAAAGATATATATTTTGTAAATCTATATAAA GATATATATTTTGTAAATCTATATAAAGATATATATTTTGTAAATATATA TAAAGATAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0011 a0005c0006t0001g0011	1	330	0.0030	108	c.197 others(125): Show c.1974+866_1974+867insATATCTTTATATATATTTACAAAATATA TATCTTTATATAGATTTACAAAATATATATCTTTATATAGATTTACAAAA TATATATCTTTATATAGATTTACAAAATAT	LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	12/34			chr2	TogoVar
MAD1L1_chr7_1810795_2237945	1929702	G G	GCTGCCAT others(101): Show GCTGCCATGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGT CCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCC CCGTCCCCA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	264	0.0038	108	c.180 others(127): Show c.1807+6984_1807+6985insTGGGGACGGGGCGAGGGGACGTGGCA GTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGT GGCAGTGGGGACGGGGCGAGGGGACATGGCAG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1930378	C C	CCCCTACT others(101): Show CCCCTACTGCCACGTCCACCACCACGTCCACACTGCCATGTCCCCTCGCC CCATCCCCCACTGCCACGTCCCCTCACCCCGTCCCCACTGCCACGTCCCC TCACCCCGT	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0001 a0001c0001t0008g0001	1	264	0.0038	108	c.180 others(127): Show c.1807+6308_1807+6309insACGGGGTGAGGGGACGTGGCAGTGGG GACGGGGTGAGGGGACGTGGCAGTGGGGGATGGGGCGAGGGGACATGGCA GTGTGGACGTGGTGGTGGACGTGGCAGTAGGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1930516	C C	CCCCCACT others(101): Show CCCCCACTGCCACGTCCCCTCATCCCGTCCCCACTGCCACATCCCACCAC CACGTCCACACTGCCATGTCCCCTCGCCCCATCCCCCTGCCACGTCCGCT TACCCCATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	264	0.0038	108	c.180 others(127): Show c.1807+6170_1807+6171insTATGGGGTAAGCGGACGTGGCAGGGG GATGGGGCGAGGGGACATGGCAGTGTGGACGTGGTGGTGGGATGTGGCAG TGGGGACGGGATGAGGGGACGTGGCAGTGGGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1930522	T T	TGCCACAA others(101): Show TGCCACAACCCCTCATCCCGTCCCCTACTGCCACATCCCACCACCACGTC CACACTGCCATGTCCCCTCGCCCCATCCCCCTGCCACGTCCGCTTACCCC ATACCCACC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02257.hp1 HG02293.hp2 others(3): Show HG01433.hp1 HG02257.hp1 HG02293.hp2 HG02647.hp1 HG03579.hp1 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0152 a0001c0003t0001g0066 a0002c0002t0001g0013 others(3): Show a0001c0001t0001g0152 a0001c0003t0001g0066 a0002c0002t0001g0013 a0002c0002t0001g0031 a0002c0002t0001g0043 a0002c0002t0002g0002	6	264	0.0227	108	c.180 others(127): Show c.1807+6164_1807+6165insGGTGGGTATGGGGTAAGCGGACGTGG CAGGGGGATGGGGCGAGGGGACATGGCAGTGTGGACGTGGTGGTGGGATG TGGCAGTAGGGGACGGGATGAGGGGTTGTGGC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1930522	T T	TGCCACAA others(101): Show TGCCACAACCCCTCATCCCGTCCCCTACTGCCACATCCCACCACCACGTC CACACTGCCATGTCCCCTCGCCCCGTCCCCCTGCCACGTCCGCTTACCCC ATACCCACC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp2 NA18522.hp1 HG01884.hp2 HG02257.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0082 a0001c0001t0001g0148 a0001c0001t0001g0149	3	264	0.0114	108	c.180 others(127): Show c.1807+6164_1807+6165insGGTGGGTATGGGGTAAGCGGACGTGG CAGGGGGACGGGGCGAGGGGACATGGCAGTGTGGACGTGGTGGTGGGATG TGGCAGTAGGGGACGGGATGAGGGGTTGTGGC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAEA_chr4_1284891_1345137	1316913	C C	CAGACTCA others(101): Show CAGACTCACCTGCAGGCCCACCACGGCCCCACACTCTAGACTCACCCCCA GGCCCACCCTGGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCGGCC CCACACTCT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0378 a0001c0002t0001g0378	1	388	0.0026	108	c.456 others(125): Show c.456+1322_456+1323insTGCAGGCCCACCACGGCCCCACACTCTA GACTCACCCCCAGGCCCACCCTGGCCCCCACACTCCAGACTCACCTGCAG GCCCACCCGGCCCCACACTCTAGACTCACC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1330323	T T	TCTCTCTC others(101): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCTCTCTCGTC TCTCTCTCGTCTCTCTCTCGTCTCTCTCTCGTCTCTCTCTCGTCTCTCTC TCGTCTCTC	intron_variant intron_variant	MODIFIER	HG02148.hp1 NA18974.hp2 HG02148.hp1 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0164 a0001c0001t0001g0133 a0001c0001t0001g0164	2	388	0.0052	108	c.657 others(125): Show c.657-2432_657-2431insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCCTCTCTCGTCTCTCTCTCGTCTCTCTCTCGTCTCTCTCTCG TCTCTCTCTCGTCTCTCTCTCGTCTCTCCT	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAN2B2_chr4_6570189_6628362	6579135	C C	CCATCACC others(101): Show CCATCACCACCACCACCCTTCACCACCACCACCACCACCACCATCACCAC CACCACCCTTCACCACCATCACCACCACCACCACCACCACCATCACCACC ACCACCCTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18999.hp2 NA19080.hp1 others(1): Show HG00408.hp2 NA18999.hp2 NA19080.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 others(1): Show a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0321	4	362	0.0111	108	c.391 others(123): Show c.391+639_391+640insTCACCACCACCACCCTTCACCACCACCACC ACCACCACCATCACCACCACCACCCTTCACCACCATCACCACCACCACCA CCACCACCATCACCACCACCACCCTTCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar

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