Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
LEP_chr7_128236278_128262629	128258721	C C	CTCTTTCT others(41): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	395	0.0025	48	c.39 others(59): Show c.3958_*3959insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTT	LEP	ENSG00000174697.5	transcript	ENST00000308868.5	protein_coding		1093		chr7	TogoVar
LGR6_chr1_202188799_202324761	202204508	C C	CACACACA others(41): Show CACACACACACCTCCAAACACACACACACCTAACACACACCTCCTCCAA	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0173 a0003c0004t0001g0173	1	262	0.0038	48	c.212 others(67): Show c.212+10333_212+10334insACCTAACACACACCTCCTCCAAACAC ACACACCTCCAAACACACACAC	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LGR6_chr1_202188799_202324761	202205406	A A	ACACCTAA others(41): Show ACACCTAACACACACCTCCTTCAAACACACACACACCTAACACACACCT	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18612.hp1 NA18945.hp1 others(3): Show HG02027.hp1 NA18612.hp1 NA18945.hp1 NA18984.hp2 NA18998.hp2 NA19002.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0159 others(3): Show a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0159 a0002c0002t0002g0126 a0002c0002t0002g0128 a0002c0002t0002g0142	6	262	0.0229	48	c.212 others(67): Show c.212+11206_212+11207insACCTAACACACACCTCCTTCAAACAC ACACACACCTAACACACACCTC	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LHFPL3_chr7_104323603_104913561	104430392	A A	ATACATGT others(41): Show ATACATGTATATATATATATATACGTGTATATATATATATATATACATG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	86	0.0116	48	c.445 others(69): Show c.445+101170_445+101171insCATGTATATATATATATATACGTG TATATATATATATATATACATGTA	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LHFPL6_chr13_39337892_39608193	39369597	T T	TCCTTCCC others(41): Show TCCTTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTC	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA20129.hp2 NA19063.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0083 a0001c0001t0010g0071 a0001c0001t0001g0083 a0001c0001t0010g0071	2	242	0.0083	48	c.484 others(65): Show c.484+8830_484+8831insGAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAGGGAGGGAGGGAAGG	LHFPL6	ENSG00000183722.9	transcript	ENST00000379589.4	protein_coding	3/3			chr13	TogoVar
LHFPL6_chr13_39337892_39608193	39369597	T T	TCCTTCCT others(41): Show TCCTTCCTTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTC	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA19240.hp2 HG02257.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0002 a0001c0001t0005 a0001c0002t0002	a0001c0001t0005g0070 a0001c0002t0002g0008 a0001c0001t0005g0070 a0001c0002t0002g0008	2	242	0.0083	48	c.484 others(65): Show c.484+8830_484+8831insGAGGAAGGAAGGAAGGAAGGAAGGAAGG AGGGAGGGAGGGAAGGAAGG	LHFPL6	ENSG00000183722.9	transcript	ENST00000379589.4	protein_coding	3/3			chr13	TogoVar
LHPP_chr10_124456823_124619141	124506917	G G	GGGGTAGA others(41): Show GGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01346.hp1 HG01517.hp2 others(4): Show HG01081.hp1 HG01346.hp1 HG01517.hp2 HG02486.hp2 HG03017.hp2 HG03490.hp2 HG03831.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0004 a0003c0003t0006 a0001c0001t0001 a0001c0001t0004 a0003c0003t0006	a0001c0001t0001g0110 a0001c0001t0001g0189 a0001c0001t0004g0059 others(4): Show a0001c0001t0001g0110 a0001c0001t0001g0189 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0004g0114 a0001c0001t0004g0115 a0003c0003t0006g0153	7	260	0.0269	48	c.624 others(65): Show c.624+8811_624+8858dupGGGGGGTAGGGAGGATTTCAGGTGGGCG GGTAGACAGGATTTCAGGTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124506987	A A	AGGGGGGT others(41): Show AGGGGGGTAGGGAGGATTTCAGGTGTAGGGGTAGACAGGATTTCAGGTG	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0053 a0001c0001t0001g0054	2	260	0.0077	48	c.624 others(65): Show c.624+8882_624+8883insGTAGGGGTAGACAGGATTTCAGGTGGGG GGGTAGGGAGGATTTCAGGT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507011	C C	CGGGGGGT others(41): Show CGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTG	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	260	0.0039	48	c.624 others(65): Show c.624+8907_624+8908insGGGGGGTAGGGAGGATTTCAGGTGGGGG GGTAGACAGGATTTCAGGTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507162	G G	GATAGGGA others(41): Show GATAGGGAAGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02055.hp2 HG01099.hp1 HG02055.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0010 a0003c0003t0002g0011 a0003c0003t0002g0010 a0003c0003t0002g0011	2	260	0.0077	48	c.624 others(65): Show c.624+9034_624+9035insATAGGGAAGATTTCAGGTGTGGAGGGTA GACAGGATTTCAGGTGGGGA	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6			chr10	TogoVar
LHPP_chr10_124456823_124619141	124507252	G G	GGTGGGGG others(41): Show GGTGGGGGGGTAGGCAGGATTTCAGGTCGGGGGGGTAGACAGGATTTCA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01258.hp2 HG03130.hp1 HG00735.hp1 HG01258.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0161 a0001c0001t0001g0181 a0001c0001t0001g0103 a0001c0001t0001g0161 a0001c0001t0001g0181	3	260	0.0115	48	c.624 others(65): Show c.624+9126_624+9127insGGGGGGGTAGGCAGGATTTCAGGTCGGG GGGGTAGACAGGATTTCAGT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507316	C C	CAGGATTT others(41): Show CAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGGGGTAGGG	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18969.hp1 NA19065.hp2 others(2): Show NA18966.hp2 NA18969.hp1 NA19065.hp2 NA19077.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 others(2): Show a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0165	5	260	0.0192	48	c.624 others(65): Show c.624+9206_624+9207insATAGGGAGTATTTCAGGTGGGGGGGTAG GGAGGATTTCAGGTGGGGGG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507338	G G	GGGAGGAT others(41): Show GGGAGGATTTCAGGTGAGGGGGGTAGGGAGTATTTCAGGTGGGGGGGTA	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	260	0.0039	48	c.624 others(65): Show c.624+9225_624+9226insAGGGGGGTAGGGAGTATTTCAGGTGGGG GGGTAGGAGGATTTCAGGTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507402	G G	GGGGGGGT others(41): Show GGGGGGGTAGGGAGGATTTCAGGTGTGGGGGGTAGACAGGATTTCAGGT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	260	0.0039	48	c.624 others(65): Show c.624+9277_624+9278insGGGTAGGGAGGATTTCAGGTGTGGGGGG TAGACAGGATTTCAGGTGGG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507599	G G	GGGGGGGT others(41): Show GGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGT	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	260	0.0039	48	c.624 others(65): Show c.624+9471_624+9472insGGGGGGTAGGGAGGATTTCAGGTGTGGA GGGTAGACAGGATTTCAGGT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6			chr10	TogoVar
LHPP_chr10_124456823_124619141	124507611	C C	CAGGATTT others(41): Show CAGGATTTCAGGTGGGGGGGTAGGGAGTATTTCAGGTGGGGGGGTAGGG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01361.hp1 HG00735.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0181 a0001c0001t0001g0046 a0001c0001t0001g0181	2	260	0.0077	48	c.624 others(65): Show c.624+9496_624+9497insGGGGGGTAGGGAGTATTTCAGGTGGGGG GGTAGGGAGGATTTCAGGTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507685	C C	CAGGATTT others(41): Show CAGGATTTCAGGTGGGGGGGTAGGGAGTATTTCAGGTGGGGGGGTAGGG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	260	0.0039	48	c.625 others(65): Show c.625-9482_625-9481insGGGGGGTAGGGAGTATTTCAGGTGGGGG GGTAGGGAGGATTTCAGGTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507796	G G	GGGGGGGT others(41): Show GGGGGGGTAGGCAGGATTTCAGGTCGGGGGGGTAGACAGGATTTCAGGT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02965.hp1 HG01433.hp1 HG02965.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0142 a0002c0002t0001g0078 a0001c0001t0001g0142 a0002c0002t0001g0078	2	260	0.0077	48	c.625 others(65): Show c.625-9378_625-9377insTAGGCAGGATTTCAGGTCGGGGGGGTAG ACAGGATTTCAGGTGGGGGG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507905	A A	ACAGGATT others(41): Show ACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	260	0.0039	48	c.625 others(65): Show c.625-9258_625-9257insGGGTAGGGAGGATTTCAGGTGGGGGGGT AGGCAGGATTTCAGGTGGGG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124610764	C C	CGGGTGAG others(41): Show CGGGTGAGGGTGCTGATGGAGCGGGTGTGGGTGCTGATGGAGTGGGTGT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	260	0.0039	48	c.717 others(65): Show c.717-2474_717-2473insTGGGTGCTGATGGAGTGGGTGTGGGTGA GGGTGCTGATGGAGCGGGTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHX5_chr12_113457033_113476871	113461038	C C	CTCTTTCT others(41): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	48	c.21 others(59): Show c.2151_*2152insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGA	LHX5	ENSG00000089116.4	transcript	ENST00000261731.4	protein_coding		994		chr12	TogoVar
LIMS1_chr2_108529470_108692246	108569764	C C	CTTTTTTT others(41): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0232 a0001c0002t0004g0232	1	246	0.0041	48	c.32+ others(65): Show c.32+35189_32+35190insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTT	LIMS1	ENSG00000169756.17	transcript	ENST00000544547.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
LIN28B_chr6_104952107_105088332	105023299	T T	TTATATAT others(41): Show TTATATATAATTATATTATATATAATATATATAATTATATTATATATAA	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	278	0.0036	48	c.199 others(65): Show c.199-2833_199-2786dupTAATATATATAATTATATTATATATAAT ATATATAATTATATTATATA	LIN28B	ENSG00000187772.8	transcript	ENST00000345080.5	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
LINGO2_chr9_27932617_29218601	28189601	G G	GAGGGAGG others(41): Show GAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAAGGAAGGGAGGGAAGA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01071.hp1 HG00642.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0016 a0001c0001t0004 a0001c0001t0016	a0001c0001t0004g0022 a0001c0001t0016g0011 a0001c0001t0004g0022 a0001c0001t0016g0011	2	62	0.0323	48	c.-36 others(69): Show c.-36+105606_-36+105607insTCTTCCCTCCCTTCCTTCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCT	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	6/6			chr9	TogoVar
LINGO2_chr9_27932617_29218601	28837649	A A	AATATATA others(41): Show AATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	62	0.0161	48	c.-39 others(71): Show c.-395+110168_-395+110169insATATATATATATATATATATAT ATATATATATATATATATATATATAT	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	2/6			chr9	TogoVar
LIPG_chr18_49557057_49604185	49579001	G G	GGGGAGAC others(41): Show GGGGAGACGGAGACGGAGACGGAGAGGGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0115 a0001c0001t0115	a0001c0001t0115g0045 a0001c0001t0115g0045	1	384	0.0026	48	c.794 others(65): Show c.794-2408_794-2407insCGGAGACGGAGACGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGA	LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
LIPG_chr18_49557057_49604185	49579001	G G	GGGGAGAC others(41): Show GGGGAGACGGAGACGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0035 a0001c0001t0044g0035	1	384	0.0026	48	c.794 others(65): Show c.794-2408_794-2407insCGGAGACGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGA	LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
LIPG_chr18_49557057_49604185	49579001	G G	GGGGAGAC others(41): Show GGGGAGACGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01934.hp2 HG00099.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0034 a0001c0001t0006g0042 a0001c0001t0006g0034 a0001c0001t0006g0042	2	384	0.0052	48	c.794 others(65): Show c.794-2408_794-2407insCGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGA	LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
LIPG_chr18_49557057_49604185	49579001	G G	GGGGAGAG others(41): Show GGGGAGAGGGAGAGGGAGAGGGAGAGGGACAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0231 a0001c0001t0019g0231	1	384	0.0026	48	c.794 others(65): Show c.794-2386_794-2385insCAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGA	LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
LIPG_chr18_49557057_49604185	49579001	G G	GGGGAGAG others(41): Show GGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp1 HG01123.hp1 others(13): Show HG00639.hp1 HG00735.hp1 HG01123.hp1 HG01175.hp2 HG02451.hp1 HG02523.hp2 HG02735.hp1 HG02886.hp2 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03239.hp1 HG03831.hp2 NA18944.hp1 NA18962.hp2 NA18982.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002 a0006c0008	a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 others(11): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0013 a0001c0001t0082 a0001c0001t0089 a0001c0001t0108 a0001c0001t0142 a0001c0003t0099 a0001c0005t0103 a0002c0002t0005 a0002c0002t0054 a0002c0002t0072 a0006c0008t0008	a0001c0001t0002g0134 a0001c0001t0003g0010 a0001c0001t0003g0011 others(13): Show a0001c0001t0002g0134 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0139 a0001c0001t0012g0087 a0001c0001t0013g0106 a0001c0001t0082g0272 a0001c0001t0089g0253 a0001c0001t0108g0153 a0001c0001t0142g0159 a0001c0003t0099g0198 a0001c0005t0103g0176 a0002c0002t0005g0371 a0002c0002t0054g0344 a0002c0002t0072g0363 a0006c0008t0008g0295	16	384	0.0417	48	c.794 others(65): Show c.794-2224_794-2177dupAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGG	LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
LMAN2_chr5_177326567_177356668	177343584	C C	CACACACA others(41): Show CACACACACACACACACGGAATGTGGTCTAGACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp1 HG02723.hp1 others(6): Show HG01243.hp1 HG01891.hp1 HG02723.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG03225.hp1 NA18522.hp2 NA19030.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0007 a0005c0003 a0001c0001 a0001c0007 a0005c0003	a0001c0001t0001 a0001c0007t0001 a0005c0003t0001 a0001c0001t0001 a0001c0007t0001 a0005c0003t0001	a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0234 others(6): Show a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0234 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0007t0001g0247 a0005c0003t0001g0041	9	376	0.0239	48	c.316 others(65): Show c.316-4980_316-4979insTTGTGTGTGTGTGTGTGTCTAGACCACA TTCCGTGTGTGTGTGTGTGT	LMAN2	ENSG00000169223.16	transcript	ENST00000303127.12	protein_coding	2/7			chr5	TogoVar
LMBRD1_chr6_69669010_69802010	69774948	T T	TGGAAGGA others(41): Show TGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0314 a0002c0002t0002g0314	1	348	0.0029	48	c.307 others(65): Show c.307+5545_307+5546insTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCC	LMBRD1	ENSG00000168216.13	transcript	ENST00000649934.3	protein_coding	3/15			chr6	TogoVar
LMF1_chr16_848634_975984	857569	G G	GTGGTGTC others(41): Show GTGGTGTCTCGGGACGGGTGTGCCGTGGTGTCTCGGGACGGGTGTGCCC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0053 a0001c0053	a0001c0053t0002 a0001c0053t0002	a0001c0053t0002g0031 a0001c0053t0002g0031	1	294	0.0034	48	c.153 others(67): Show c.1530-2864_1530-2863insGGGCACACCCGTCCCGAGACACCACG GCACACCCGTCCCGAGACACCA	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	857600	A A	ACGGGATG others(41): Show ACGGGATGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0020 a0020	a0020c0059 a0020c0059	a0020c0059t0002 a0020c0059t0002	a0020c0059t0002g0199 a0020c0059t0002g0199	1	294	0.0034	48	c.153 others(67): Show c.1530-2895_1530-2894insAGACACCACTGCACACCCGTCCCGAG ACACCACTGCACACCCATCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858332	G G	GCAGTGGT others(41): Show GCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGC	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0196 a0001c0001t0003g0196	1	294	0.0034	48	c.153 others(67): Show c.1530-3627_1530-3626insGCACACCCATCCCGAGACACCACTCA CACCCATCCCGAGACACCACTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858379	G G	GCAGTGGT others(41): Show GCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01361.hp2 HG01934.hp2 others(6): Show HG01074.hp2 HG01361.hp2 HG01934.hp2 HG02145.hp1 HG02451.hp1 HG03831.hp2 HG04228.hp1 NA18982.hp2 NA19064.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0044 a0002c0054 a0006c0021	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 others(5): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0044t0001 a0002c0054t0001 a0006c0021t0001	a0001c0001t0001g0107 a0001c0003t0001g0133 a0001c0003t0001g0179 others(6): Show a0001c0001t0001g0107 a0001c0003t0001g0133 a0001c0003t0001g0179 a0001c0004t0001g0077 a0001c0005t0001g0116 a0001c0006t0001g0055 a0001c0044t0001g0034 a0002c0054t0001g0114 a0006c0021t0001g0020	9	294	0.0306	48	c.153 others(67): Show c.1530-3674_1530-3673insGCACACCCATCCCGAGACACCACTCA CACCCATCCCGAGACACCACTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858660	G G	GAGTGTTG others(41): Show GAGTGTTGTCTCGGGACCGGTGTGCAGTGTTGTCTCGGGACCGGTGTGC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0071 a0001c0008t0002g0071	1	294	0.0034	48	c.153 others(67): Show c.1530-3955_1530-3954insGCACACCGGTCCCGAGACAACACTGC ACACCGGTCCCGAGACAACACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858845	G G	GAGTGTTG others(41): Show GAGTGTTGTCTCGGGACCGGTGTGCAGTGTTGTCTCGGGACCGGTGTGC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0266 a0001c0001t0002g0266	1	294	0.0034	48	c.153 others(67): Show c.1530-4140_1530-4139insGCACACCGGTCCCGAGACAACACTGC ACACCGGTCCCGAGACAACACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858850	G G	GTGTCTCG others(41): Show GTGTCTCGGGACGGGTGTGCAGTGATGTCTCGGGACGGGTGTGCACTGA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0011 a0011	a0011c0038 a0011c0038	a0011c0038t0001 a0011c0038t0001	a0011c0038t0001g0245 a0011c0038t0001g0245	1	294	0.0034	48	c.153 others(67): Show c.1530-4145_1530-4144insTCAGTGCACACCCGTCCCGAGACATC ACTGCACACCCGTCCCGAGACA	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858982	G G	GGTGTGCA others(41): Show GGTGTGCAGTGGTGTCACGGGACGCGTGTGCAGTGGTGTCACGGGACGC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0001 a0005c0019t0001	a0005c0019t0001g0060 a0005c0019t0001g0060	1	294	0.0034	48	c.153 others(67): Show c.1530-4277_1530-4276insGCGTCCCGTGACACCACTGCACACGC GTCCCGTGACACCACTGCACAC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	859063	G G	GTGTCTCG others(41): Show GTGTCTCGAGACGGGTGTGCAGTGATGTCTCGGGACGGGTGTGCACTGA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0008 a0008	a0008c0061 a0008c0061	a0008c0061t0003 a0008c0061t0003	a0008c0061t0003g0210 a0008c0061t0003g0210	1	294	0.0034	48	c.153 others(67): Show c.1530-4358_1530-4357insTCAGTGCACACCCGTCCCGAGACATC ACTGCACACCCGTCTCGAGACA	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CCCCCGGT others(41): Show CCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0281 a0001c0002t0001g0281	1	414	0.0024	48	c.171 others(65): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LMLN_chr3_197955217_198048720	198004306	T T	TATCTGTA others(41): Show TATCTGTATATCATCTATACAGATACATATCATACGTAGTAAGTTTGAC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0053 a0002c0002t0053	a0002c0002t0053g0061 a0002c0002t0053g0061	1	258	0.0039	48	c.131 others(67): Show c.1319+1185_1319+1186insGTATATCATCTATACAGATACATATC ATACGTAGTAAGTTTGACATCT	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
LMLN_chr3_197955217_198048720	198004410	T T	TATCTATA others(41): Show TATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTTTGAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0133 a0001c0001t0027g0133	1	258	0.0039	48	c.131 others(67): Show c.1319+1331_1319+1332insACATCTATATATCATCTATACAGATA CATATCATACGTAGTAAGTTTG	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
LMNB1_chr5_126772136_126842020	126795933	C C	CTTTTTTT others(41): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0028 a0001c0001t0001g0030	2	374	0.0054	48	c.360 others(65): Show c.360-8827_360-8826insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTT	LMNB1	ENSG00000113368.12	transcript	ENST00000261366.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
LMO2_chr11_33853576_33897076	33880162	C C	CATGATAT others(41): Show CATGATATATACACATGATATATATATATCATATATACACATGATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01106.hp1 HG01978.hp2 others(4): Show HG00738.hp2 HG01106.hp1 HG01978.hp2 HG01993.hp2 HG02451.hp1 HG04199.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0024 a0001c0002t0004 a0001c0002t0005	a0001c0001t0001g0354 a0001c0001t0002g0194 a0001c0001t0012g0222 others(4): Show a0001c0001t0001g0354 a0001c0001t0002g0194 a0001c0001t0012g0222 a0001c0001t0012g0234 a0001c0001t0024g0300 a0001c0002t0004g0301 a0001c0002t0005g0176	7	442	0.0158	48	c.-27 others(67): Show c.-272+1661_-272+1662insATATATCATGTGTATATATGATATAT ATATATCATGTGTATATATCAT	LMO2	ENSG00000135363.12	transcript	ENST00000257818.3	protein_coding	2/5			chr11	TogoVar
LMO2_chr11_33853576_33897076	33880206	T T	TATATATA others(41): Show TATATATATCATATATACACATGATATATATATATCATATATACACATG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	442	0.0023	48	c.-27 others(67): Show c.-272+1617_-272+1618insCATGTGTATATATGATATATATATAT CATGTGTATATATGATATATAT	LMO2	ENSG00000135363.12	transcript	ENST00000257818.3	protein_coding	2/5			chr11	TogoVar
LMO7_chr13_75631330_75864866	75771545	T T	TCTTTAAA others(41): Show TCTTTAAAAATAGAATTTTTAAAGACTTTAAAAACAGAATTTTTAAAGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00738.hp1 others(20): Show HG00639.hp1 HG00639.hp2 HG00738.hp1 HG01106.hp1 HG01168.hp1 HG01169.hp2 HG01261.hp1 HG01361.hp1 HG01515.hp2 HG01981.hp2 HG02280.hp2 HG02735.hp2 HG03490.hp2 HG03491.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp2 HG03831.hp1 HG04184.hp2 NA18980.hp1 NA18987.hp2 NA20752.hp1 NA20905.hp2	a0001 a0002 a0018 others(1): Show a0001 a0002 a0018 a0022	a0001c0001 a0002c0003 a0002c0007 others(2): Show a0001c0001 a0002c0003 a0002c0007 a0018c0028 a0022c0025	a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 a0002c0003t0002 a0002c0007t0003 a0002c0007t0004 a0018c0028t0004 a0022c0025t0003	a0001c0001t0001g0135 a0001c0001t0002g0055 a0002c0003t0001g0121 others(20): Show a0001c0001t0001g0135 a0001c0001t0002g0055 a0002c0003t0001g0121 a0002c0003t0001g0137 a0002c0003t0001g0138 a0002c0003t0001g0139 a0002c0003t0001g0154 a0002c0003t0001g0192 a0002c0003t0001g0203 a0002c0003t0001g0211 a0002c0003t0001g0238 a0002c0003t0001g0239 a0002c0003t0001g0240 a0002c0003t0002g0134 a0002c0007t0003g0176 a0002c0007t0003g0178 a0002c0007t0003g0180 a0002c0007t0003g0181 a0002c0007t0004g0098 a0002c0007t0004g0260 a0002c0007t0004g0261 a0018c0028t0004g0133 a0022c0025t0003g0177	23	272	0.0846	48	c.317 others(67): Show c.317+10516_317+10517insTAGAATTTTTAAAGACTTTAAAAACA GAATTTTTAAAGACTTTAAAAA	LMO7	ENSG00000136153.20	transcript	ENST00000377534.8	protein_coding	4/30		INFO_REALIGN_3_PRIME	chr13	TogoVar
LMOD1_chr1_201891456_201951548	201948342	A A	AAAAGAAA others(41): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 NA18968.hp2 NA19043.hp1 others(1): Show HG02258.hp1 NA18968.hp2 NA19043.hp1 NA19070.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0175 a0001c0001t0001g0289 a0001c0001t0001g0329 others(1): Show a0001c0001t0001g0175 a0001c0001t0001g0289 a0001c0001t0001g0329 a0002c0002t0002g0184	4	400	0.0100	48	c.-20 others(59): Show c.-2003_-2002insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTT	LMOD1	ENSG00000163431.14	transcript	ENST00000367288.5	protein_coding		1795		chr1	TogoVar
LMOD3_chr3_69101065_69127595	69110853	A A	AAAAAAAA others(41): Show AAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0130 a0001c0001t0062g0130	1	428	0.0023	48	c.165 others(67): Show c.1657-1733_1657-1732insATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTTTTTTT	LMOD3	ENSG00000163380.16	transcript	ENST00000420581.7	protein_coding	2/2			chr3	TogoVar

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