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
KLHDC4_chr16_87702812_87770986	87726297	G G	GCCGCGCC others(93): Show GCCGCGCCTCGCCCCGTCTCCCCACGCCGCGCCTCGCCCCGTCTCCCCCA CGCCGCGCCTCGCCCGTCTCCCCACGCCGCGCCTCGCCCGTCTCCCCACC A	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0132 a0004c0004t0001g0132	1	380	0.0026	100	c.759 others(115): Show c.759+467_759+468insTGGTGGGGAGACGGGCGAGGCGCGGCGTGG GGAGACGGGCGAGGCGCGGCGTGGGGGAGACGGGGCGAGGCGCGGCGTGG GGAGACGGGGCGAGGCGCGG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	7/11			chr16	TogoVar
KLHL18_chr3_47277944_47351816	47316723	G G	GTGTATAT others(93): Show GTGTATATATACATATATACGTATATATGTATATGTATATATGTGTATAT ATACACATATATACGTATATATGTGTATATATACACATATATACGTATAT A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0322 a0001c0001t0001g0322	1	338	0.0030	100	c.130 others(117): Show c.130-2927_130-2926insATATATACATATATACGTATATATGTAT ATGTATATATGTGTATATATACACATATATACGTATATATGTGTATATAT ACACATATATACGTATATATGT	KLHL18	ENSG00000114648.12	transcript	ENST00000232766.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
KLHL1_chr13_69695597_70113452	69721062	G G	GATATATA others(93): Show GATATATATATACACAAATTCCTTGTAAGGGAGGTACATAGCTTTATATA TATATATATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03486.hp2 HG03453.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0088 a0001c0001t0010g0048 a0001c0001t0002g0088 a0001c0001t0010g0048	2	182	0.0110	100	c.180 others(119): Show c.1803-1482_1803-1481insATATATATATATATATATATATATAT ATATATATATATATATATATATATATATATAAAGCTATGTACCTCCCTTA CAAGGAATTTGTGTATATATATAT	KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	8/10			chr13	TogoVar
KLHL1_chr13_69695597_70113452	69721062	G G	GATATATA others(93): Show GATATATATATATATATATATATATATATATATATATATATATATATATA TATATATACAAATTCCTTGTAAGGGAGGTACATAGCTTTATATATATATA T	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0015 a0001c0001t0004g0015	1	182	0.0055	100	c.180 others(119): Show c.1803-1482_1803-1481insATATATATATATAAAGCTATGTACCT CCCTTACAAGGAATTTGTATATATATATATATATATATATATATATATAT ATATATATATATATATATATATAT	KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	8/10			chr13	TogoVar
KLHL1_chr13_69695597_70113452	69721062	G G	GATATATA others(93): Show GATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATACAAATTCCTTGTAAGGGAGGTACATAGCTTTATATATATA T	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01433.hp1 HG01175.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0055 a0001c0001t0001g0059	2	182	0.0110	100	c.180 others(119): Show c.1803-1482_1803-1481insATATATATATAAAGCTATGTACCTCC CTTACAAGGAATTTGTATATATATATATATATATATATATATATATATAT ATATATATATATATATATATATAT	KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	8/10			chr13	TogoVar
KLHL1_chr13_69695597_70113452	69721062	G G	GATATATA others(93): Show GATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATACAAATTCCTTGTAAGGGAGGTACATAGCTTTA T	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	182	0.0055	100	c.180 others(119): Show c.1803-1482_1803-1481insATAAAGCTATGTACCTCCCTTACAAG GAATTTGTATATATATATATATATATATATATATATATATATATATATAT ATATATATATATATATATATATAT	KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	8/10			chr13	TogoVar
KLHL25_chr15_85754326_85799925	85757581	T T	TCCTCCTC others(93): Show TCCTCCTCCTCCTCCCCCTCCCCCTCCTGCTCCCCCCCCTCCCCCTCCTC CCCCCTTCCTCCCCCTCCCCCCCTCCCCTCCCCCCTCCTCCCTCCCCTCC C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0339 a0001c0004t0008g0339	1	406	0.0025	100	c.34 others(111): Show c.3454_*3455insGGGAGGGGAGGGAGGAGGGGGGAGGGGAGGGGGG GAGGGGGAGGAAGGGGGGAGGAGGGGGAGGGGGGGGAGCAGGAGGGGGAG GGGGAGGAGGAGGAGG	KLHL25	ENSG00000183655.13	transcript	ENST00000337975.6	protein_coding		1744		chr15	TogoVar
KLHL6_chr3_183482551_183560706	183534073	C C	CCTTTAAA others(93): Show CCTTTAAAAGTACTTTACTTTTAAAGTACTTTTACTTTTAAAGTACTTTT AAAGTACTTTTACTTTTAAAGTACTTTAAAAGTACTTTTACTTTTAAAGT A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02647.hp2 HG02809.hp2 others(2): Show HG02258.hp1 HG02647.hp2 HG02809.hp2 HG03225.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0103 a0003c0009t0016 a0001c0001t0103 a0003c0009t0016	a0001c0001t0103g0059 a0003c0009t0016g0003 a0003c0009t0016g0069 others(1): Show a0001c0001t0103g0059 a0003c0009t0016g0003 a0003c0009t0016g0069 a0003c0009t0016g0070	5	298	0.0168	100	c.294 others(117): Show c.294-6064_294-6063insTACTTTAAAAGTAAAAGTACTTTTAAAG TACTTTAAAAGTAAAAGTACTTTAAAAGTACTTTAAAAGTAAAAGTACTT TAAAAGTAAAGTACTTTTAAAG	KLHL6	ENSG00000172578.12	transcript	ENST00000341319.8	protein_coding	1/6			chr3	TogoVar
KRTAP19-7_chr21_30555875_30566314	30562376	T T	TATATATA others(93): Show TATATATATATATATATATATATGCATATATATATATATACATATATATA TATATACATATATATATGCATATATATATATATACATATATATATATATA C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	422	0.0024	100	c.-10 others(111): Show c.-1088_-1087insGTATATATATATATATGTATATATATATATATGC ATATATATATGTATATATATATATATGTATATATATATATATGCATATAT ATATATATATATATAT	KRTAP19-7	ENSG00000244362.3	transcript	ENST00000334849.2	protein_coding		1063		chr21	TogoVar
KRTAP21-2_chr21_30741794_30752259	30743599	T T	TATATATA others(93): Show TATATATACGTATATATATACGTATATATATACGAATATATTCGTATATA TATACGAATATATTCGTATATATATACGAATATATTCGTATATATATACG A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 NA19012.hp2 HG02922.hp1 NA19012.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	2	380	0.0053	100	c.33 others(111): Show c.3351_*3352insTCGTATATATATACGAATATATTCGTATATATAT ACGAATATATTCGTATATATATACGAATATATTCGTATATATATACGTAT ATATATACGTATATAT	KRTAP21-2	ENSG00000187026.3	transcript	ENST00000333892.3	protein_coding		3194		chr21	TogoVar
KSR2_chr12_117448012_117973990	117606501	C C	CCTCCTTC others(93): Show CCTCCTTCCTCCCTCCCTCCTCTCCTTCCTTCCTCCATCCCCTCCTTCCT CCCTCCCTCCCCTCCTTCCTCCCTCCCTCCCCTCCTTCCTCCCTCCCTCC T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG01071.hp1 others(38): Show HG00280.hp1 HG00597.hp1 HG01071.hp1 HG01074.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01346.hp2 HG01361.hp2 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02055.hp1 HG02074.hp1 HG02895.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03669.hp2 HG03831.hp2 HG03834.hp2 HG06807.hp2 NA18943.hp1 NA18944.hp2 NA18962.hp1 NA18964.hp1 NA18973.hp1 NA18975.hp2 NA18983.hp1 NA19011.hp2 NA19056.hp2 NA19064.hp1 NA19066.hp1 NA19081.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0010 a0003c0018	a0001c0001t0045 a0001c0002t0001 a0001c0002t0002 others(35): Show a0001c0001t0045 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0009 a0001c0002t0012 a0001c0002t0015 a0001c0002t0022 a0001c0002t0031 a0001c0002t0038 a0001c0002t0039 a0001c0002t0041 a0001c0002t0051 a0001c0002t0052 a0001c0002t0053 a0001c0002t0062 a0001c0002t0066 a0001c0002t0075 a0001c0002t0079 a0001c0002t0113 a0001c0002t0115 a0001c0002t0124 a0001c0002t0131 a0001c0002t0145 a0001c0002t0147 a0001c0002t0148 a0001c0003t0004 a0001c0004t0003 a0001c0004t0006 a0001c0004t0014 a0001c0004t0056 a0001c0004t0082 a0001c0004t0096 a0001c0004t0117 a0001c0004t0146 a0002c0010t0013 a0003c0018t0049	a0001c0001t0045g0017 a0001c0002t0001g0112 a0001c0002t0002g0086 others(38): Show a0001c0001t0045g0017 a0001c0002t0001g0112 a0001c0002t0002g0086 a0001c0002t0002g0091 a0001c0002t0002g0158 a0001c0002t0003g0010 a0001c0002t0004g0109 a0001c0002t0009g0183 a0001c0002t0012g0035 a0001c0002t0015g0076 a0001c0002t0022g0160 a0001c0002t0031g0005 a0001c0002t0038g0021 a0001c0002t0039g0023 a0001c0002t0041g0027 a0001c0002t0051g0034 a0001c0002t0052g0041 a0001c0002t0053g0038 a0001c0002t0062g0056 a0001c0002t0066g0047 a0001c0002t0075g0069 a0001c0002t0079g0077 a0001c0002t0113g0156 a0001c0002t0115g0110 a0001c0002t0124g0123 a0001c0002t0131g0085 a0001c0002t0145g0193 a0001c0002t0147g0188 a0001c0002t0148g0186 a0001c0003t0004g0146 a0001c0004t0003g0029 a0001c0004t0006g0090 a0001c0004t0014g0070 a0001c0004t0056g0033 a0001c0004t0082g0078 a0001c0004t0096g0105 a0001c0004t0117g0092 a0001c0004t0146g0185 a0002c0010t0013g0049 a0002c0010t0013g0050 a0003c0018t0049g0037	41	196	0.2092	100	c.117 others(121): Show c.1172-24143_1172-24142insAGGAGGGAGGGAGGAAGGAGGGGA GGGAGGGAGGAAGGAGGGGAGGGAGGGAGGAAGGAGGGGATGGAGGAAGG AAGGAGAGGAGGGAGGGAGGAAGGAG	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	5/19			chr12	TogoVar
LAMA2_chr6_128878138_129521566	129200253	T T	TACACGTG others(93): Show TACACGTGTACACATATACATGTGTATATATATACACGTGTACACATATA CATGTGTATATATATACACGTGTACACATATACATGTGTATATATATATA C	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0005 a0005	a0005c0042 a0005c0042	a0005c0042t0002 a0005c0042t0002	a0005c0042t0002g0007 a0005c0042t0002g0007	1	88	0.0114	100	c.178 others(119): Show c.1782+7402_1782+7403insACGTGTACACATATACATGTGTATAT ATATACACGTGTACACATATACATGTGTATATATATACACGTGTACACAT ATACATGTGTATATATATATACAC	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	12/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA5_chr20_62304065_62372312	62360602	G G	GTGGGTGG others(93): Show GTGGGTGGGTGGATGGATAGGTGGATGGGTGGGTGGAGGAATAGATGGGT GGGTGGGTGGGTGGGTGGATGGATAGGTGGGTGGGTGGGTGGAGGAATAG A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00544.hp1 others(34): Show HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00673.hp2 HG01256.hp1 HG01515.hp2 HG02040.hp2 HG02071.hp2 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02602.hp1 HG02630.hp2 HG03017.hp2 HG03239.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03927.hp1 HG04199.hp2 NA18612.hp1 NA18612.hp2 NA18943.hp1 NA18943.hp2 NA18947.hp1 NA18947.hp2 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA19012.hp1 NA19088.hp1 NA20752.hp2 NA20905.hp1	a0000 a0001 a0002 others(16): Show a0000 a0001 a0002 a0003 a0004 a0005 a0008 a0016 a0017 a0022 a0033 a0039 a0040 a0044 a0046 a0056 a0067 a0068 a0075	a0000c0075 a0000c0098 a0000c0109 others(23): Show a0000c0075 a0000c0098 a0000c0109 a0001c0001 a0001c0005 a0001c0007 a0001c0010 a0002c0003 a0003c0002 a0004c0004 a0004c0092 a0005c0018 a0008c0009 a0016c0047 a0016c0093 a0017c0083 a0022c0074 a0033c0107 a0039c0087 a0040c0089 a0044c0095 a0046c0105 a0056c0104 a0067c0076 a0068c0072 a0075c0110	a0000c0075t0001 a0000c0098t0001 a0000c0109t0001 others(25): Show a0000c0075t0001 a0000c0098t0001 a0000c0109t0001 a0001c0001t0001 a0001c0005t0001 a0001c0007t0001 a0001c0010t0001 a0001c0010t0002 a0002c0003t0001 a0003c0002t0001 a0004c0004t0001 a0004c0092t0001 a0005c0018t0001 a0005c0018t0002 a0008c0009t0001 a0016c0047t0001 a0016c0093t0001 a0017c0083t0001 a0022c0074t0001 a0033c0107t0001 a0039c0087t0001 a0040c0089t0001 a0044c0095t0001 a0046c0105t0001 a0056c0104t0001 a0067c0076t0001 a0068c0072t0001 a0075c0110t0001	a0000c0075t0001g0120 a0000c0098t0001g0124 a0000c0109t0001g0113 others(34): Show a0000c0075t0001g0120 a0000c0098t0001g0124 a0000c0109t0001g0113 a0001c0001t0001g0110 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0005t0001g0121 a0001c0005t0001g0127 a0001c0007t0001g0149 a0001c0010t0001g0119 a0001c0010t0001g0125 a0001c0010t0002g0117 a0002c0003t0001g0130 a0002c0003t0001g0132 a0003c0002t0001g0048 a0004c0004t0001g0112 a0004c0004t0001g0133 a0004c0004t0001g0165 a0004c0092t0001g0107 a0005c0018t0001g0118 a0005c0018t0002g0122 a0008c0009t0001g0114 a0008c0009t0001g0135 a0008c0009t0001g0136 a0016c0047t0001g0086 a0016c0093t0001g0123 a0017c0083t0001g0129 a0022c0074t0001g0134 a0033c0107t0001g0111 a0039c0087t0001g0108 a0040c0089t0001g0109 a0044c0095t0001g0163 a0046c0105t0001g0140 a0056c0104t0001g0131 a0067c0076t0001g0160 a0068c0072t0001g0159 a0075c0110t0001g0162	37	186	0.1989	100	c.450 others(117): Show c.450+1797_450+1798insTCTATTCCTCCACCCACCCACCCACCTA TCCATCCACCCACCCACCCACCCACCCATCTATTCCTCCACCCACCCATC CACCTATCCATCCACCCACCCA	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62360602	G G	GTGGGTGG others(93): Show GTGGGTGGGTGGATGGATAGGTGGGTGGGTGGGTGGAGGAATAGATGGGT GGGTGGGTGGGTGGGTGGATGGATAGGTGGGTGGGTGGGTGGAGGAATAG A	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0085 a0001c0007t0001g0085	1	186	0.0054	100	c.450 others(117): Show c.450+1797_450+1798insTCTATTCCTCCACCCACCCACCCACCTA TCCATCCACCCACCCACCCACCCACCCATCTATTCCTCCACCCACCCACC CACCTATCCATCCACCCACCCA	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62360614	A A	ATGGATAG others(93): Show ATGGATAGGTGGATGGGTGGGTGGAGGAATAGATGGGTGGGTGGGTGGGT GGGTGGATGGATAGGTGGGTGGGTGGGTGGAGGAATAGATGGGTGGGTGG G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0161 a0001c0005t0001g0161	1	186	0.0054	100	c.450 others(117): Show c.450+1785_450+1786insCCCACCCACCCATCTATTCCTCCACCCA CCCACCCACCTATCCATCCACCCACCCACCCACCCACCCATCTATTCCTC CACCCACCCATCCACCTATCCA	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79			chr20	TogoVar
LASP1NB_chr17_38920614_38934381	38930756	G G	GCGGGGGA others(93): Show GCGGGGGAGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00597.hp1 others(68): Show HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00733.hp1 HG00733.hp2 HG01243.hp1 HG01884.hp2 HG01891.hp1 HG01943.hp1 HG01981.hp1 HG02015.hp2 HG02055.hp2 HG02083.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03688.hp1 HG03942.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18940.hp1 NA18946.hp2 NA18948.hp1 NA18968.hp1 NA18970.hp2 NA18980.hp1 NA18988.hp2 NA18992.hp2 NA18998.hp2 NA19005.hp2 NA19043.hp2 NA19058.hp1 NA19064.hp2 NA19077.hp2 NA19085.hp2 NA19240.hp1 NA20752.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0021 a0001c0001t0022 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0041	a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0007g0001 others(13): Show a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0007g0001 a0001c0001t0008g0001 a0001c0001t0010g0001 a0001c0001t0011g0001 a0001c0001t0012g0001 a0001c0001t0014g0001 a0001c0001t0021g0001 a0001c0001t0022g0001 a0001c0001t0028g0001 a0001c0001t0029g0001 a0001c0001t0030g0001 a0001c0001t0031g0001 a0001c0001t0032g0001 a0001c0001t0041g0001	71	422	0.1683	100	c.44 others(111): Show c.4460_*4461insCGGGGGAGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGC	LASP1NB	ENSG00000263874.3	transcript	ENST00000583195.3	protein_coding		1376		chr17	TogoVar
LASP1NB_chr17_38920614_38934381	38930762	G G	GAGCTGAC others(93): Show GAGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01516.hp2 HG01517.hp1 others(5): Show HG01515.hp2 HG01516.hp2 HG01517.hp1 HG02683.hp1 HG02738.hp2 HG02886.hp2 HG04228.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0001 a0001c0001t0003g0001 a0001c0001t0002g0001 a0001c0001t0003g0001	8	422	0.0190	100	c.44 others(111): Show c.4466_*4467insAGCTGACCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGC	LASP1NB	ENSG00000263874.3	transcript	ENST00000583195.3	protein_coding		1382		chr17	TogoVar
LCN15_chr9_136754634_136769518	136769256	A A	ACCCCTCC others(93): Show ACCCCTCCATGCACTGCCCCCCCCGCCACCCCTCCATGCACTGCCCCCCC CGCCACCCCTCCATGCACTGCCCCCCCCGCCACCCCTCCATGCACTGCCC C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	356	0.0028	100	c.-47 others(111): Show c.-4769_-4768insGGGGCAGTGCATGGAGGGGTGGCGGGGGGGGCAG TGCATGGAGGGGTGGCGGGGGGGGCAGTGCATGGAGGGGTGGCGGGGGGG GCAGTGCATGGAGGGG	LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding		4739		chr9	TogoVar
LCN15_chr9_136754634_136769518	136769290	A A	ACCCCCCC others(93): Show ACCCCCCCATGCACTGCCCCCCCCGCCACCCCTCCATGCACTGCCCCCCC CGCCACCCCTCCATGCACTGCCCCCCCCGCCACCCCTCCATGCACTGCCC C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	356	0.0028	100	c.-48 others(111): Show c.-4803_-4802insGGGGCAGTGCATGGAGGGGTGGCGGGGGGGGCAG TGCATGGAGGGGTGGCGGGGGGGGCAGTGCATGGAGGGGTGGCGGGGGGG GCAGTGCATGGGGGGG	LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding		4773		chr9	TogoVar
LCN15_chr9_136754634_136769518	136769432	T T	TCCCCCCC others(93): Show TCCCCCCCGCCACCCCGCCACCCCCCATGCACTGCCCCCCCCGACACCCC GACACCCCCCATGCACTGCCCCCCCGCCACCCCGCCACCCCCCATGCACT G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	356	0.0028	100	c.-49 others(111): Show c.-4945_-4944insCAGTGCATGGGGGGTGGCGGGGTGGCGGGGGGGC AGTGCATGGGGGGTGTCGGGGTGTCGGGGGGGGCAGTGCATGGGGGGTGG CGGGGTGGCGGGGGGG	LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding		4915		chr9	TogoVar
LHPP_chr10_124456823_124619141	124507279	T T	TGGGGGGG others(93): Show TGGGGGGGTAGGGAGGATTTCAGGTCGGGGGGGGTAGGGAGGATTTCAGG TGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGT G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0058 a0002c0002t0001g0058	1	260	0.0039	100	c.624 others(117): Show c.624+9175_624+9176insCGGGGGGGGTAGGGAGGATTTCAGGTGT GGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGG GGGGGTAGGGAGGATTTCAGGT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LIG4_chr13_108202442_108220536	108215427	C C	CCTCCCAA others(93): Show CCTCCCAACCCCCCACCCCCCCGCCCCCACCTCCCAACCCCCCACCCCCC CGCCCCCACCTCCCAACCCCCCACCCCCCCCGCCCCCACCTCCCAACCCC T	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0053 a0001c0004t0004g0053	1	374	0.0027	100	c.-10 others(115): Show c.-102+56_-102+57insAGGGGTTGGGAGGTGGGGGCGGGGGGGGTG GGGGGTTGGGAGGTGGGGGCGGGGGGGTGGGGGGTTGGGAGGTGGGGGCG GGGGGGTGGGGGGTTGGGAG	LIG4	ENSG00000174405.15	transcript	ENST00000442234.6	protein_coding	1/2			chr13	TogoVar
LIG4_chr13_108202442_108220536	108215427	C C	CCTCCCAA others(93): Show CCTCCCAACCCCCCCACCCCCCCGCCCCCACCTCCCAACCCCCCACCCCC CCGCCCCCACCTCCCAACCCCCCACCCCCCCGCCCCCACCTCCCAACCCC T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0054 a0001c0004t0004g0054	1	374	0.0027	100	c.-10 others(115): Show c.-102+56_-102+57insAGGGGTTGGGAGGTGGGGGCGGGGGGGTGG GGGGTTGGGAGGTGGGGGCGGGGGGGTGGGGGGTTGGGAGGTGGGGGCGG GGGGGTGGGGGGGTTGGGAG	LIG4	ENSG00000174405.15	transcript	ENST00000442234.6	protein_coding	1/2			chr13	TogoVar
LIN28B_chr6_104952107_105088332	105023557	A A	ATATATTA others(93): Show ATATATTATATATTATATATAATATATATTATATATTTTATATATATAAT ATATATTATATATTTTATATATATAAAATATATAATATATATTATATATA T	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0236 a0001c0001t0002g0236	1	278	0.0036	100	c.199 others(117): Show c.199-2736_199-2735insTATATATTATATATAATATATATTATAT ATTTTATATATATAATATATATTATATATTTTATATATATAAAATATATA ATATATATTATATATATTATAT	LIN28B	ENSG00000187772.8	transcript	ENST00000345080.5	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
LIN28B_chr6_104952107_105088332	105023557	A A	ATATATTA others(93): Show ATATATTATATATTATATATAATATATATTATATATTTTATATATTTTAT ATATATAATATATATTATATATTTTATATATATAAAATATATAATATATA T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	278	0.0036	100	c.199 others(117): Show c.199-2736_199-2735insTATATATTATATATAATATATATTATAT ATTTTATATATTTTATATATATAATATATATTATATATTTTATATATATA AAATATATAATATATATTATAT	LIN28B	ENSG00000187772.8	transcript	ENST00000345080.5	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
LIN28B_chr6_104952107_105088332	105023557	A A	ATATATTA others(93): Show ATATATTATATATTATATATAATATATATTATATATTTTATATATTTTAT ATATATAATATATATTATATATTTTATATATATATAATATATAATATATA T	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0214 a0001c0001t0002g0214	1	278	0.0036	100	c.199 others(117): Show c.199-2736_199-2735insTATATATTATATATAATATATATTATAT ATTTTATATATTTTATATATATAATATATATTATATATTTTATATATATA TAATATATAATATATATTATAT	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(93): Show GAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGGAGGGAAGAA GGAAGGGAGGGAGGAAGGAAGGGAGGGAAGAAGGAAGGAAGGGAGGGAGG A	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	62	0.0161	100	c.-36 others(121): Show c.-36+105606_-36+105607insTCCTCCCTCCCTTCCTTCCTTCTT CCCTCCCTTCCTTCCTCCCTCCCTTCCTTCTTCCCTCCCTCCCTTCCTTC CTTCCTCCCTTCCTTCCTTCCTCCCT	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	6/6			chr9	TogoVar
LIPM_chr10_88797730_88825546	88808910	C C	CATTTTAT others(93): Show CATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT T	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0196 a0001c0002t0001g0196	1	462	0.0022	100	c.265 others(115): Show c.265+555_265+556insATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTT	LIPM	ENSG00000173239.14	transcript	ENST00000404743.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF2_chr22_50497949_50512702	50504140	A A	ACCCCCCC others(93): Show ACCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACC CCCCCCCGCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCC C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0281 a0001c0002t0001g0281	1	414	0.0024	100	c.171 others(117): Show c.1718+199_1718+200insGGGGGTGTGGAGCCCGGGGTGCAGGGGT AAGGCCGGGCACCGGCGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAA GGCCGGGCACCGGGGGGGGGGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LMLN_chr3_197955217_198048720	198004926	T T	TATCTATA others(93): Show TATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTTTGCCA TCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTTTGA C	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	258	0.0039	100	c.131 others(119): Show c.1319+1847_1319+1848insCCATCTATCTATATATCATCTATACA GATACATATCATACGTAGTAAGTTTGACATCTATATATCATCTATACAGA TACATATCATACGTAGTAAGTTTG	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
LMO2_chr11_33853576_33897076	33880162	C C	CATGATAT others(93): Show CATGATATATACACATGATATATATATATCATATATACACATGATATATA TATATCATATATACACATGATATATATATATCATATATACACATGATATA T	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0332 a0001c0002t0007g0332	1	442	0.0023	100	c.-27 others(119): Show c.-272+1661_-272+1662insATATATCATGTGTATATATGATATAT ATATATCATGTGTATATATGATATATATATATCATGTGTATATATGATAT ATATATATCATGTGTATATATCAT	LMO2	ENSG00000135363.12	transcript	ENST00000257818.3	protein_coding	2/5			chr11	TogoVar
LOC122319696_chrX_149409877_149420506	149418487	A A	ATATATAT others(93): Show ATATATATATATCATATATATAATATATATTATATTATATATATATCATA TATATAATATATATTATATTATATATATCATATATATAATATATATCATA T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp1 NA19054.hp1 NA18966.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	313	0.0064	100	c.-30 others(111): Show c.-3011_-3010insATATGATATATATTATATATATGATATATATAAT ATAATATATATTATATATATGATATATATATAATATAATATATATTATAT ATATGATATATATATA	LOC122319696	ENSG00000287585.2	transcript	ENST00000653668.2	protein_coding		2982		chrX	TogoVar
LOC122319696_chrX_149409877_149420506	149418487	A A	ATATATAT others(93): Show ATATATATATATCATATATATAATATATATTATATTATATATATATCATA TATATAATATATATTATATTATATATATCATATATATAATATATATTATA T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00423.hp2 others(114): Show HG00140.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01192.hp1 HG01258.hp1 HG01261.hp1 HG01361.hp2 HG01433.hp1 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp1 HG02559.hp2 HG02698.hp1 HG02735.hp1 HG03017.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03704.hp2 HG03834.hp2 HG03927.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18946.hp1 NA18949.hp2 NA18951.hp2 NA18953.hp1 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18964.hp2 NA18965.hp1 NA18970.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18979.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18989.hp1 NA18990.hp1 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19011.hp1 NA19055.hp1 NA19056.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19072.hp1 NA19075.hp1 NA19076.hp1 NA19080.hp2 NA19083.hp1 NA19085.hp1 NA19087.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0003 others(1): Show a0001c0001 a0001c0004 a0002c0003 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0004t0001 a0002c0003t0001 a0003c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0002g0010 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0002g0010 a0001c0001t0003g0014 a0001c0004t0001g0005 a0002c0003t0001g0004 a0003c0006t0001g0008	117	313	0.3738	100	c.-30 others(111): Show c.-3011_-3010insATATAATATATATTATATATATGATATATATAAT ATAATATATATTATATATATGATATATATATAATATAATATATATTATAT ATATGATATATATATA	LOC122319696	ENSG00000287585.2	transcript	ENST00000653668.2	protein_coding		2982		chrX	TogoVar
LOC128462377_chr16_89312046_89423292	89323504	C C	CAGGGCAG others(93): Show CAGGGCAGGGGGGCTGAGCCGAGGGCAGGGGGGCTGAGCCGAGGGCAGGG GGGCAGAGCCCAGGGCAGGGGGGCAGAGCCCAGGGCAGGGGGGCTGAGCC G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01346.hp2 HG02040.hp1 others(17): Show HG01243.hp2 HG01346.hp2 HG02040.hp1 HG02148.hp2 HG02165.hp1 HG02523.hp1 HG02647.hp2 HG03490.hp2 HG03492.hp2 HG03927.hp1 NA18945.hp1 NA18966.hp2 NA18977.hp1 NA18982.hp2 NA18986.hp2 NA18995.hp1 NA18998.hp2 NA19062.hp2 NA19079.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0027 a0001c0001t0000g0037 a0001c0001t0000g0039 others(17): Show a0001c0001t0000g0027 a0001c0001t0000g0037 a0001c0001t0000g0039 a0001c0001t0000g0050 a0001c0001t0000g0084 a0001c0001t0000g0100 a0001c0001t0000g0101 a0001c0001t0000g0103 a0001c0001t0000g0121 a0001c0001t0000g0124 a0001c0001t0000g0146 a0001c0001t0000g0147 a0001c0001t0000g0155 a0001c0001t0000g0166 a0001c0001t0000g0170 a0001c0001t0000g0177 a0001c0001t0000g0183 a0001c0001t0000g0187 a0001c0001t0000g0196 a0001c0001t0000g0357	20	366	0.0546	100	c.10- others(115): Show c.10-6430_10-6429insCGGCTCAGCCCCCCTGCCCTGGGCTCTGCC CCCCTGCCCTGGGCTCTGCCCCCCTGCCCTCGGCTCAGCCCCCCTGCCCT CGGCTCAGCCCCCCTGCCCT	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
LOC128462377_chr16_89312046_89423292	89323526	G G	GGGCAGGG others(93): Show GGGCAGGGGGGCTGAGCCGAGGGCAGGGGGGCAGAGCCCAGGGCAGGGGG GCAGAGCCCAGGGCAGGGGGGCTGAGCCGAGGGCAGGGGGGCTGAGCCGA A	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA19086.hp1 HG00423.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0123 a0001c0001t0000g0148 a0001c0001t0000g0123 a0001c0001t0000g0148	2	366	0.0055	100	c.10- others(115): Show c.10-6452_10-6451insTTCGGCTCAGCCCCCCTGCCCTCGGCTCAG CCCCCCTGCCCTGGGCTCTGCCCCCCTGCCCTGGGCTCTGCCCCCCTGCC CTCGGCTCAGCCCCCCTGCC	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
LOC128462377_chr16_89312046_89423292	89323579	A A	AAGCCCAG others(93): Show AAGCCCAGGGCAGGGGGGCTGAGCCCAGGGCAGGGGGGCTGAGCCCAGGG CAGGGGGGCTGAGCCCAGGGCAGGGGGGCTGAGCCCAGGGCAGGGGGGCT G	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0230 a0001c0001t0000g0230	1	366	0.0027	100	c.10- others(115): Show c.10-6505_10-6504insCAGCCCCCCTGCCCTGGGCTCAGCCCCCCT GCCCTGGGCTCAGCCCCCCTGCCCTGGGCTCAGCCCCCCTGCCCTGGGCT CAGCCCCCCTGCCCTGGGCT	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
LOC400499_chr16_11367015_11532247	11494117	G G	GGGGGCGG others(93): Show GGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGGCGGG GCAGTGGCGTGGGGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCG T	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0014 a0014	a0014c0011 a0014c0011	a0014c0011t0001 a0014c0011t0001	a0014c0011t0001g0173 a0014c0011t0001g0173	1	310	0.0032	100	c.143 others(117): Show c.1432-322_1432-321insACGCCACTGCCCCGCCCCCCACGCCACT GCCCCGCCCCCCCACGCCACTGCCCCGCCCCCCCACGCCACTGCCCCGCC CCCCACGCCACTGCCCCGCCCC	LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	11/66			chr16	TogoVar
LOXHD1_chr18_46472273_46662220	46546293	T T	TACTCCAT others(93): Show TACTCCATTCCATTCTACTCCACTCCACTCCACTCCATTCCAATACATTT CATTCCAATACATTCCATTCCAACCCATCCCATTCCATTCCATTCCAATC C	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0260 a0001c0009t0001g0260	1	270	0.0037	100	c.351 others(117): Show c.3514+502_3514+601dupGGATTGGAATGGAATGGAATGGGATGGG TTGGAATGGAATGTATTGGAATGAAATGTATTGGAATGGAGTGGAGTGGA GTGGAGTAGAATGGAATGGAGT	LOXHD1	ENSG00000167210.17	transcript	ENST00000642948.1	protein_coding	22/40			chr18	TogoVar
LPCAT1_chr5_1456427_1528960	1483711	A A	AAGGAACA others(93): Show AAGGAACACTTTCTGTTTTAACATCGCGCACAAGCTGGAAGGCGTCTGTG GAGGGACACTTGCTATTATAACATTGCGCACGAGCTGGAAGACATCCGTG G	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0215 a0001c0003t0001g0215	1	386	0.0026	100	c.668 others(115): Show c.668-226_668-225insCCACGGATGTCTTCCAGCTCGTGCGCAATG TTATAATAGCAAGTGTCCCTCCACAGACGCCTTCCAGCTTGTGCGCGATG TTAAAACAGAAAGTGTTCCT	LPCAT1	ENSG00000153395.10	transcript	ENST00000283415.4	protein_coding	5/13			chr5	TogoVar
LPCAT1_chr5_1456427_1528960	1483728	T T	TTAACATC others(93): Show TTAACATCGCGCACAAGCTGGAAGGCGTCTGTGGAGGGACACTTGCTATT ATAACATTGCGCACGAGCTGGAAGACATCCGTGGAGGGACACTTTCTGCT G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02109.hp2 HG00741.hp1 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0087 a0001c0001t0004g0042 a0001c0001t0002g0087 a0001c0001t0004g0042	2	386	0.0052	100	c.668 others(115): Show c.668-243_668-242insCAGCAGAAAGTGTCCCTCCACGGATGTCTT CCAGCTCGTGCGCAATGTTATAATAGCAAGTGTCCCTCCACAGACGCCTT CCAGCTTGTGCGCGATGTTA	LPCAT1	ENSG00000153395.10	transcript	ENST00000283415.4	protein_coding	5/13			chr5	TogoVar
LPCAT1_chr5_1456427_1528960	1483728	T T	TTAACATC others(93): Show TTAACATCGCGCACCAGCTGGAAGGCGTCTGTGGAGGGACACTTGCTATT ATAACATTGCGCACGAGCTGGAAGACATCCGTGGAGGGACACTTTCTGCT G	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0040 a0001c0001t0013g0040	1	386	0.0026	100	c.668 others(115): Show c.668-243_668-242insCAGCAGAAAGTGTCCCTCCACGGATGTCTT CCAGCTCGTGCGCAATGTTATAATAGCAAGTGTCCCTCCACAGACGCCTT CCAGCTGGTGCGCGATGTTA	LPCAT1	ENSG00000153395.10	transcript	ENST00000283415.4	protein_coding	5/13			chr5	TogoVar
LPCAT1_chr5_1456427_1528960	1483742	G G	AAGCTGGA others(93): Show AAGCTGGAAGGCGTCTGTGGAGGGACACTTGCTATTATAACATTGCGCAC GAGCTGGAAGACATCCGTGGAGGGACACTTTCTGCTGTAACATCGCGCAC C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01515.hp2 HG00741.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0241 a0001c0001t0002g0362 a0001c0001t0002g0241 a0001c0001t0002g0362	2	386	0.0052	100	c.668 others(112): Show c.668-256delCinsGGTGCGCGATGTTACAGCAGAAAGTGTCCCTCCA CGGATGTCTTCCAGCTCGTGCGCAATGTTATAATAGCAAGTGTCCCTCCA CAGACGCCTTCCAGCTT	LPCAT1	ENSG00000153395.10	transcript	ENST00000283415.4	protein_coding	5/13			chr5	TogoVar
LPCAT1_chr5_1456427_1528960	1483742	G G	GAGCTGGA others(93): Show GAGCTGGAAGGCGTCTGTGGAGGGACACTTGCTATTATAACATTGCGCAC GAGCTGGAAGACATCCGTGGAGGGACACTTTCTGCTGTAACATCGCGCAC C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00597.hp1 others(25): Show HG00099.hp2 HG00323.hp2 HG00597.hp1 HG00639.hp1 HG00733.hp2 HG00738.hp2 HG01099.hp2 HG01516.hp1 HG02109.hp2 HG02155.hp1 HG02723.hp1 HG02738.hp1 HG03017.hp1 HG03041.hp2 HG03225.hp2 HG03654.hp1 HG03834.hp2 HG03927.hp1 NA18906.hp1 NA18959.hp1 NA18974.hp1 NA18979.hp2 NA18980.hp1 NA19005.hp2 NA19059.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0002c0005 a0003c0008 a0004c0014	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(9): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 a0002c0005t0003 a0002c0005t0004 a0002c0005t0031 a0003c0008t0002 a0004c0014t0034	a0001c0001t0002g0087 a0001c0001t0002g0189 a0001c0001t0002g0347 others(24): Show a0001c0001t0002g0087 a0001c0001t0002g0189 a0001c0001t0002g0347 a0001c0001t0004g0050 a0001c0001t0005g0056 a0001c0001t0007g0271 a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0119 a0001c0002t0001g0276 a0001c0002t0001g0313 a0001c0002t0004g0143 a0001c0002t0004g0273 a0001c0003t0001g0206 a0001c0003t0001g0272 a0002c0005t0003g0048 a0002c0005t0003g0065 a0002c0005t0003g0308 a0002c0005t0003g0330 a0002c0005t0004g0146 a0002c0005t0031g0219 a0003c0008t0002g0009 a0003c0008t0002g0212 a0003c0008t0002g0353 a0004c0014t0034g0145	28	386	0.0725	100	c.668 others(115): Show c.668-356_668-257dupGGTGCGCGATGTTACAGCAGAAAGTGTCCC TCCACGGATGTCTTCCAGCTCGTGCGCAATGTTATAATAGCAAGTGTCCC TCCACAGACGCCTTCCAGCT	LPCAT1	ENSG00000153395.10	transcript	ENST00000283415.4	protein_coding	5/13			chr5	TogoVar
LPCAT1_chr5_1456427_1528960	1483742	G G	GAGCTGGA others(93): Show GAGCTGGAAGGCGTCTGTGGAGGGACACTTGCTATTATAACATTGCGCAC GAGCTGGAAGACATCCGTGGAGGGACACTTTCTGTTTTAACATCGCGCAC C	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0309 a0001c0002t0001g0309	1	386	0.0026	100	c.668 others(115): Show c.668-257_668-256insGGTGCGCGATGTTAAAACAGAAAGTGTCCC TCCACGGATGTCTTCCAGCTCGTGCGCAATGTTATAATAGCAAGTGTCCC TCCACAGACGCCTTCCAGCT	LPCAT1	ENSG00000153395.10	transcript	ENST00000283415.4	protein_coding	5/13			chr5	TogoVar
LPCAT1_chr5_1456427_1528960	1483778	A A	ATAACATT others(93): Show ATAACATTGCGCACGAGCTGGAAGACATCCGTGGAGGGACACTTTCTGCT GTAACATCGCGCACCAGCTGGAAGGCGTCTGTGGAGGGACACTTGCTATT G	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03516.hp2 HG03195.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0026 a0001c0001t0005g0265 a0001c0001t0005g0026 a0001c0001t0005g0265	2	386	0.0052	100	c.668 others(115): Show c.668-293_668-292insCAATAGCAAGTGTCCCTCCACAGACGCCTT CCAGCTGGTGCGCGATGTTACAGCAGAAAGTGTCCCTCCACGGATGTCTT CCAGCTCGTGCGCAATGTTA	LPCAT1	ENSG00000153395.10	transcript	ENST00000283415.4	protein_coding	5/13			chr5	TogoVar
LPCAT1_chr5_1456427_1528960	1483787	C C	CGCACGAG others(93): Show CGCACGAGCTGGAAGACATCCGTGGAGGGACACTTTCTGCTGTAACATCG CGCACCAGCTGGAAGGCGTCTGTGGAGGGACACTTGCTATTATAACATTG T	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0232 a0001c0002t0001g0232	1	386	0.0026	100	c.668 others(115): Show c.668-302_668-301insACAATGTTATAATAGCAAGTGTCCCTCCAC AGACGCCTTCCAGCTGGTGCGCGATGTTACAGCAGAAAGTGTCCCTCCAC GGATGTCTTCCAGCTCGTGC	LPCAT1	ENSG00000153395.10	transcript	ENST00000283415.4	protein_coding	5/13			chr5	TogoVar
LPCAT1_chr5_1456427_1528960	1483936	G G	GCGCACCA others(93): Show GCGCACCAGCTGGAAGGCGTCTGTGGAGGGACACTTGCTATTATAACATT GCGCACGAGCTGGAAGACATCCGTGGAGGGACACTTTCTGCTGTAACATC A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0021 a0001c0002t0004g0021	1	386	0.0026	100	c.668 others(115): Show c.668-451_668-450insTGATGTTACAGCAGAAAGTGTCCCTCCACG GATGTCTTCCAGCTCGTGCGCAATGTTATAATAGCAAGTGTCCCTCCACA GACGCCTTCCAGCTGGTGCG	LPCAT1	ENSG00000153395.10	transcript	ENST00000283415.4	protein_coding	5/13			chr5	TogoVar
LRBA_chr4_150259435_151020284	150660238	C C	CGTCCGGG others(93): Show CGTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCCCCGCCCGACCAGCCGCC CCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG03516.hp2 HG00597.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0122 a0001c0001t0001g0109 a0001c0001t0001g0122	2	180	0.0111	100	c.592 others(121): Show c.5921+23312_5921+23313insAGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGTCGGGCGGGGGGGC CGACCCCCCCCACCTCCCTCCCGGAC	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	37/56			chr4	TogoVar
LRFN5_chr14_41601876_41909549	41826848	T T	TAATAAGT others(93): Show TAATAAGTAATTATTTTGATTCACAAAATAAGTAATTATTTTGATTCACA AAATAAGTAATTATTTTGATTCACAAAATAAGTAATTATTTTGATTCACA A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00544.hp2 others(31): Show HG00140.hp2 HG00408.hp2 HG00544.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG01070.hp1 HG01099.hp1 HG01106.hp2 HG01123.hp2 HG01175.hp2 HG01255.hp1 HG01346.hp2 HG01361.hp1 HG01515.hp1 HG01517.hp2 HG02055.hp2 HG02523.hp2 HG02630.hp2 HG02735.hp1 HG03130.hp1 HG03239.hp2 HG03453.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03710.hp1 HG03942.hp2 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18964.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0021	a0001c0001t0001g0005 a0001c0001t0001g0049 a0001c0001t0001g0095 others(31): Show a0001c0001t0001g0005 a0001c0001t0001g0049 a0001c0001t0001g0095 a0001c0001t0002g0007 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0070 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0007g0093 a0001c0001t0010g0269 a0001c0001t0010g0270 a0001c0002t0001g0054 a0001c0002t0001g0146 a0001c0002t0001g0214 a0001c0002t0002g0016 a0001c0002t0002g0020 a0001c0002t0002g0022 a0001c0002t0002g0024 a0001c0002t0002g0051 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0083 a0001c0002t0003g0273 a0001c0002t0021g0039	34	280	0.1214	100	c.-20 others(119): Show c.-20-59733_-20-59634dupAAATAAGTAATTATTTTGATTCACAA AATAAGTAATTATTTTGATTCACAAAATAAGTAATTATTTTGATTCACAA AATAAGTAATTATTTTGATTCACA	LRFN5	ENSG00000165379.14	transcript	ENST00000298119.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
LRP8_chr1_53237364_53333070	53283477	T T	TTACTACA others(93): Show TTACTACATACCCGGGCCACTTACTTACTTACTACATACCCGGGCCACTT ACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGCCACTTAC A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG03195.hp2 HG00609.hp1 HG03195.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0002 a0002c0002t0010 a0001c0004t0002 a0002c0002t0010	a0001c0004t0002g0258 a0002c0002t0010g0042 a0001c0004t0002g0258 a0002c0002t0010g0042	2	296	0.0068	100	c.368 others(117): Show c.368-2763_368-2762insTGTAAGTGGCCCGGGTATGTAGTAAGTA AGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAG TAAGTGGCCCGGGTATGTAGTA	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar

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Search Results (Total: 10000 hits)