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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ZMAT4_chr8_40525590_40902826	40601606	GAAAGAAA others(92): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01123.hp2 HG02486.hp2 others(6): Show HG01074.hp2 HG01123.hp2 HG02486.hp2 HG02602.hp1 HG02809.hp2 HG02897.hp2 NA18939.hp2 NA19240.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0002c0002t0001	a0001c0001t0001g0012 a0001c0001t0001g0051 a0001c0001t0001g0060 others(6): Show a0001c0001t0001g0012 a0001c0001t0001g0051 a0001c0001t0001g0060 a0001c0001t0001g0144 a0001c0001t0002g0039 a0001c0001t0002g0220 a0001c0001t0003g0124 a0001c0001t0004g0048 a0002c0002t0001g0046	9	228	0.0395	-99	c.578 others(118): Show c.578-20444_578-20346delTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTC TTTCTTTCTTTCTTTCTTTCTTT		ZMAT4	ENSG00000165061.15	transcript	ENST00000297737.11	protein_coding	5/6						chr8	TogoVar
ZMAT4_chr8_40525590_40902826	40601632	AAGAGAAA others(92): Show AAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAG	A A	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG04228.hp1 HG06807.hp2 HG03942.hp1 HG04228.hp1 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0001 a0002c0002t0003	a0001c0001t0001g0036 a0002c0002t0001g0184 a0002c0002t0003g0024 a0001c0001t0001g0036 a0002c0002t0001g0184 a0002c0002t0003g0024	3	228	0.0132	-99	c.578 others(118): Show c.578-20470_578-20372delCTCTTTCTTTCTTTCTTTCTTTCTTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTCT		ZMAT4	ENSG00000165061.15	transcript	ENST00000297737.11	protein_coding	5/6						chr8	TogoVar
ZNF100_chr19_21717771_21772579	21721687	TGGGGGGG others(92): Show TGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCAGGAGGGGGGA GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01884.hp2 HG01891.hp2 others(9): Show HG01109.hp2 HG01884.hp2 HG01891.hp2 HG02145.hp2 HG02257.hp2 HG02647.hp1 HG02895.hp1 HG02897.hp2 HG03453.hp2 HG03540.hp2 HG06807.hp2 NA20300.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0006 a0002c0001t0001 a0002c0001t0006	a0002c0001t0001g0014 a0002c0001t0001g0065 a0002c0001t0001g0089 others(8): Show a0002c0001t0001g0014 a0002c0001t0001g0065 a0002c0001t0001g0089 a0002c0001t0001g0090 a0002c0001t0001g0093 a0002c0001t0001g0097 a0002c0001t0001g0102 a0002c0001t0001g0103 a0002c0001t0001g0104 a0002c0001t0001g0108 a0002c0001t0006g0092	12	365	0.0329	-99	c.48 others(110): Show c.4897_*4995delCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCTCCCCCCTCCTGGACGGGGCGGCTGGCCGGGTGG GGGGCTGACCCCCCC		ZNF100	ENSG00000197020.12	transcript	ENST00000358296.11	protein_coding					1083		chr19	TogoVar
ZNF169_chr9_94254298_94306829	94270826	ATAAAATA others(92): Show ATAAAATATATATATTATATTATATAAATATATATAATAATATATATATT ATATTATATAAATATATATAATAATATATATATTATATTATATTATATAT	A A	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG02145.hp1 HG01516.hp1 HG01517.hp1 HG02145.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0110 a0003c0003t0001g0111 a0003c0003t0001g0117 a0003c0003t0001g0110 a0003c0003t0001g0111 a0003c0003t0001g0117	3	382	0.0079	-99	c.-55 others(116): Show c.-55-7931_-55-7833delTAAAATATATATATTATATTATATAAAT ATATATAATAATATATATATTATATTATATAAATATATATAATAATATAT ATATTATATTATATTATATAT		ZNF169	ENSG00000175787.17	transcript	ENST00000395395.7	protein_coding	1/4						chr9	TogoVar
ZNF169_chr9_94254298_94306829	94270827	TAAAATAT others(92): Show TAAAATATATATATTATATTATATAAATATATATAATAATATATATATTA TATTATATAAATATATATAATAATATATATATTATATTATATTATATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(86): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00597.hp1 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01243.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp2 HG01993.hp1 HG02071.hp2 HG02129.hp2 HG02148.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02970.hp1 HG03017.hp2 HG03041.hp2 HG03139.hp1 HG03225.hp2 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03669.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04228.hp1 NA18939.hp2 NA18945.hp1 NA18955.hp2 NA18965.hp1 NA18979.hp2 NA18983.hp1 NA18990.hp1 NA19000.hp2 NA19001.hp2 NA19003.hp1 NA19004.hp2 NA19009.hp2 NA19054.hp1 NA19055.hp1 NA19060.hp1 NA19075.hp1 NA19079.hp1 NA19082.hp2 NA19086.hp2 NA19240.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0008 a0011 a0012	a0001c0001 a0002c0002 a0003c0003 others(5): Show a0001c0001 a0002c0002 a0003c0003 a0003c0006 a0003c0018 a0008c0011 a0011c0012 a0012c0019	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0002c0002t0004 a0003c0003t0001 a0003c0003t0003 a0003c0003t0010 a0003c0006t0001 a0003c0018t0001 a0008c0011t0001 a0011c0012t0001 a0012c0019t0003	a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 others(76): Show a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0046 a0001c0001t0001g0061 a0001c0001t0003g0001 a0001c0001t0003g0011 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0038 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0055 a0001c0001t0003g0063 a0001c0001t0006g0039 a0001c0001t0006g0056 a0002c0002t0004g0036 a0002c0002t0004g0047 a0002c0002t0004g0059 a0003c0003t0001g0004 a0003c0003t0001g0012 a0003c0003t0001g0021 a0003c0003t0001g0103 a0003c0003t0001g0112 a0003c0003t0001g0113 a0003c0003t0001g0114 a0003c0003t0001g0115 a0003c0003t0001g0116 a0003c0003t0001g0118 a0003c0003t0001g0119 a0003c0003t0001g0120 a0003c0003t0001g0121 a0003c0003t0001g0122 a0003c0003t0001g0123 a0003c0003t0001g0124 a0003c0003t0001g0127 a0003c0003t0001g0128 a0003c0003t0001g0129 a0003c0003t0001g0130 a0003c0003t0001g0131 a0003c0003t0001g0132 a0003c0003t0001g0145 a0003c0003t0001g0147 a0003c0003t0001g0148 a0003c0003t0001g0150 a0003c0003t0001g0151 a0003c0003t0001g0152 a0003c0003t0001g0153 a0003c0003t0001g0156 a0003c0003t0001g0163 a0003c0003t0001g0229 a0003c0003t0001g0230 a0003c0003t0001g0283 a0003c0003t0003g0013 a0003c0003t0003g0053 a0003c0003t0003g0054 a0003c0003t0003g0058 a0003c0003t0003g0066 a0003c0003t0003g0081 a0003c0003t0010g0049 a0003c0006t0001g0037 a0003c0006t0001g0045 a0003c0006t0001g0048 a0003c0006t0001g0050 a0003c0006t0001g0051 a0003c0006t0001g0052 a0003c0006t0001g0060 a0003c0006t0001g0062 a0003c0006t0001g0064 a0003c0006t0001g0065 a0003c0018t0001g0108 a0008c0011t0001g0133 a0008c0011t0001g0154 a0008c0011t0001g0155 a0011c0012t0001g0044 a0011c0012t0001g0057 a0012c0019t0003g0149	89	382	0.2330	-99	c.-55 others(116): Show c.-55-7928_-55-7830delAATATATATATTATATTATATAAATATA TATAATAATATATATATTATATTATATAAATATATATAATAATATATATA TTATATTATATTATATATAAA		ZNF169	ENSG00000175787.17	transcript	ENST00000395395.7	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr9	TogoVar
ZNF276_chr16_89716537_89745925	89717908	ATCCCACG others(92): Show ATCCCACGTCCAGTGGCTCCCCCGACCTCTGTGCTCCCACGTCCAGTGGC TCCCCCGACCTCTGTGCTCCCACGTCCAGTGGCTCCCCCGACCTCTGTGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0066 a0002c0002t0003g0066	1	420	0.0024	-99	c.-37 others(110): Show c.-3732_-3634delTCCCACGTCCAGTGGCTCCCCCGACCTCTGTGCT CCCACGTCCAGTGGCTCCCCCGACCTCTGTGCTCCCACGTCCAGTGGCTC CCCCGACCTCTGTGC		ZNF276	ENSG00000158805.12	transcript	ENST00000443381.7	protein_coding					3628		chr16	TogoVar
ZNF573_chr19_37733302_37784586	37751069	TATATATA others(92): Show TATATATACTGTGTATATATACAGTATAGACAGCATATATACTGTGTATA TATACAGTATAGACAGCATATATACTGTGTATATATACAGTATAGACAGC	T T	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0118 a0002c0002t0002g0118	1	350	0.0029	-99	c.296 others(118): Show c.296-10974_296-10876delGCTGTCTATACTGTATATATACACAG TATATATGCTGTCTATACTGTATATATACACAGTATATATGCTGTCTATA CTGTATATATACACAGTATATAT		ZNF573	ENSG00000189144.15	transcript	ENST00000536220.7	protein_coding	4/4						chr19	TogoVar
ZNF576_chr19_43591595_43606157	43592517	CCAGCAGC others(92): Show CCAGCAGCAGTGCCCCTGCCTGGGCTGGGGGGAGCGCTCGCCGCAGCCAT TCGCATAGCCCTGGGAGTCCGCCAGGCCGTAGGGGGAACACTGGCGGCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	-99	c.-42 others(110): Show c.-4241_-4143delCAGCAGCAGTGCCCCTGCCTGGGCTGGGGGGAGC GCTCGCCGCAGCCATTCGCATAGCCCTGGGAGTCCGCCAGGCCGTAGGGG GAACACTGGCGGCGG		ZNF576	ENSG00000124444.16	transcript	ENST00000336564.5	protein_coding					4077		chr19	TogoVar
ZNF641_chr12_48332180_48355919	48332597	CCCCCCCC others(92): Show CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG03195.hp2 NA20129.hp2 HG02559.hp1 HG03195.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	408	0.0074	-99	c.10 others(112): Show c.10277_*10375delTCGGCCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGG		ZNF641	ENSG00000167528.13	transcript	ENST00000547026.6	protein_coding					4582		chr12	TogoVar
ZNF723_chr19_22827291_22863667	22862517	TGTAATAT others(92): Show TGTAATATAATATATAATATATGTAATATAATATATATTATATATGTAAT ATAATATATATTATATATGTAATATAATATATATTATATATGTAATATAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0238 a0002c0002t0002g0238	1	364	0.0028	-99	c.40 others(110): Show c.4085_*4183delGTAATATAATATATAATATATGTAATATAATATA TATTATATATGTAATATAATATATATTATATATGTAATATAATATATATT ATATATGTAATATAA		ZNF723	ENSG00000268696.3	transcript	ENST00000600766.3	protein_coding					3851		chr19	TogoVar
ZNF799_chr19_12385016_12406271	12390467	TAGTGAGT others(92): Show TAGTGAGTCTTTTTATGTCTATGCAAGGAACTGAGAGAAGCAAATGCTTT CCCACATTCCTTACATCCATACGGGTTCTCTCCAGTGTGAGTTTTTTTCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02965.hp2 HG02965.hp2	a0016 a0016	a0016c0011 a0016c0011	a0016c0011t0001 a0016c0011t0001	a0016c0011t0001g0047 a0016c0011t0001g0047	1	446	0.0022	-99	c.183 others(108): Show c.1832_1930delGGAAAAAAACTCACACTGGAGAGAACCCGTATGGAT GTAAGGAATGTGGGAAAGCATTTGCTTCTCTCAGTTCCTTGCATAGACAT AAAAAGACTCACT	p.Trp others(13): Show p.Trp611_His643del	ZNF799	ENSG00000196466.10	transcript	ENST00000430385.3	protein_coding	4/4	2131/2583	1832/1932	611/643			chr19	TogoVar
ZNF862_chr7_149833375_149872479	149858875	ATGGGCCA others(92): Show ATGGGCCAGCTGTGGGGGCAGAGGGGCACACGCATGGGCCAGCTGTGGGG GCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01175.hp1 NA18940.hp1 others(1): Show HG00597.hp2 HG01175.hp1 NA18940.hp1 NA18946.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0127 a0001c0002t0001g0156 a0001c0002t0003g0302 others(1): Show a0001c0002t0001g0127 a0001c0002t0001g0156 a0001c0002t0003g0302 a0001c0002t0003g0316	4	412	0.0097	-99	c.111 others(116): Show c.1118-514_1118-416delATGGGCCAGCTGTGGGGGCAGAGGGGCA CACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTG TGGGGGCAGAGGGGCACACGC		ZNF862	ENSG00000106479.11	transcript	ENST00000223210.5	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr7	TogoVar
ABR_chr17_998519_1184981	1162657	TGGCTCAC others(91): Show TGGCTCACACCTCTCATCCCAGCACTTTGAAAGGCTAGGCCAAGCACAGT GGCTCACACCTGTCATCCCAGCACTTTGAAAGGCTAGGCCAAGCACCCC	T T	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG03130.hp1 HG02083.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0003 a0001c0001t0011	a0001c0001t0003g0150 a0001c0001t0011g0246 a0001c0001t0003g0150 a0001c0001t0011g0246	2	337	0.0059	-98	c.61+ others(115): Show c.61+16912_61+17009delGGGGTGCTTGGCCTAGCCTTTCAAAGTG CTGGGATGACAGGTGTGAGCCACTGTGCTTGGCCTAGCCTTTCAAAGTGC TGGGATGAGAGGTGTGAGCC		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22						chr17	TogoVar
ACACB_chr12_109111587_109273226	109194510	GCATGTGT others(91): Show GCATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTACATTGGC CTCCCAAAGTGCTGGGATTACAGTCATGAGCCACCCCCTGGCCTCTGCC	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00639.hp2 HG01106.hp2 others(13): Show HG00558.hp1 HG00639.hp2 HG01106.hp2 HG01258.hp2 HG01891.hp1 HG02071.hp2 HG02080.hp1 HG03017.hp2 HG03490.hp2 HG03710.hp2 HG04184.hp1 HG04184.hp2 NA18980.hp1 NA18987.hp1 NA19003.hp2 NA21309.hp1	a0001 a0002 a0009 others(2): Show a0001 a0002 a0009 a0012 a0028	a0001c0002 a0001c0003 a0001c0074 others(7): Show a0001c0002 a0001c0003 a0001c0074 a0002c0006 a0002c0014 a0002c0036 a0002c0043 a0009c0025 a0012c0035 a0028c0100	a0001c0002t0001 a0001c0003t0002 a0001c0074t0004 others(7): Show a0001c0002t0001 a0001c0003t0002 a0001c0074t0004 a0002c0006t0003 a0002c0014t0003 a0002c0036t0006 a0002c0043t0003 a0009c0025t0001 a0012c0035t0004 a0028c0100t0001	a0001c0002t0001g0035 a0001c0003t0002g0077 a0001c0003t0002g0101 others(13): Show a0001c0002t0001g0035 a0001c0003t0002g0077 a0001c0003t0002g0101 a0001c0003t0002g0103 a0001c0003t0002g0112 a0001c0003t0002g0244 a0001c0074t0004g0229 a0002c0006t0003g0095 a0002c0014t0003g0083 a0002c0036t0006g0223 a0002c0043t0003g0012 a0009c0025t0001g0269 a0009c0025t0001g0301 a0012c0035t0004g0063 a0012c0035t0004g0082 a0028c0100t0001g0070	16	308	0.0520	-98	c.248 others(115): Show c.2481+782_2481+879delCATGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTTTACATTGGCCTCCCAAAGTGCTGGGATTACAGTCATGA GCCACCCCCTGGCCTCTGCC		ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	16/52						chr12	TogoVar
ACAP3_chr1_1287391_1312930	1289165	TCCCCCGT others(91): Show TCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	295	0.0034	-98	c.43 others(109): Show c.4301_*4398delGGACGGAGCAGAGACACGGGACGGAGCAGAGACA CGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGAG CAGAGACACGGGGG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3225		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289335	TCCCCCGT others(91): Show TCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0211 a0003c0004t0001g0211	1	295	0.0034	-98	c.41 others(109): Show c.4131_*4228delGGACGGAGCAGAGACACGGGACGGAGCAGAGACA CGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGAG CAGAGACACGGGGG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3055		chr1	TogoVar
ACTN2_chr1_236681499_236769631	236756625	TGCCCGCT others(91): Show TGCCCGCTGCCACCGTTAGAACCCTGGTTATAGAGTATATACTGCAGAGT GCCCGCTGCCACCGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGG	T T	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA18983.hp1 NA18993.hp2 others(1): Show HG02080.hp2 NA18983.hp1 NA18993.hp2 NA19000.hp1	a0002 a0002	a0002c0005 a0002c0008 a0002c0005 a0002c0008	a0002c0005t0004 a0002c0008t0004 a0002c0005t0004 a0002c0008t0004	a0002c0005t0004g0009 a0002c0005t0004g0035 a0002c0005t0004g0305 others(1): Show a0002c0005t0004g0009 a0002c0005t0004g0035 a0002c0005t0004g0305 a0002c0008t0004g0277	4	344	0.0116	-98	c.215 others(115): Show c.2155-848_2155-751delCGTTAGAACCCTGGTTATAGAGTATATA CTGCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTAATAGAGTATATAC TGCAGAGGGCCCGCTGCCAC		ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236756674	TGCCCGCT others(91): Show TGCCCGCTGCCACCGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGG GCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGG	T T	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0109 a0001c0001t0012g0109	1	344	0.0029	-98	c.215 others(115): Show c.2155-799_2155-702delCGTTAGAACCCTGGTAATAGAGTATATA CTGCAGAGGGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATAC TGCAGAGGGCCCGCTGCCAC		ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
ACYP2_chr2_53966113_54310300	54095584	CGGACGGG others(91): Show CGGACGGGGCGGCTGGCCGAGTGGGGGGCTGACCCCCCCACCTCCCTCCC AGATGGGGCGGCTGGCCGCGCGGGGGGCTGACCCCCCCACCTCCCTCCT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03486.hp1 HG02451.hp2 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0009 a0001c0002t0003 a0001c0002t0009	a0001c0002t0003g0085 a0001c0002t0009g0086 a0001c0002t0003g0085 a0001c0002t0009g0086	2	272	0.0074	-98	c.277 others(117): Show c.277+38243_277+38340delAGTGGGGGGCTGACCCCCCCACCTCC CTCCCAGATGGGGCGGCTGGCCGCGCGGGGGGCTGACCCCCCCACCTCCC TCCTGGACGGGGCGGCTGGCCG		ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
ADAM32_chr8_39102734_39289917	39150837	AATATTTC others(91): Show AATATTTCATAATTCTGCCAAATTTTATTTTTAAAAGTAAAGTTTCTTAT TATATACATTTGTCATATATGCAGTATAATCATTTTTCAAAAGCATGGC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(216): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02148.hp1 HG02148.hp2 HG02273.hp1 HG02273.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03927.hp1 HG03927.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18993.hp1 NA18993.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0007 a0008 a0009 a0010	a0001c0001 a0001c0002 a0002c0003 others(7): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005 a0003c0004 a0005c0006 a0007c0009 a0008c0014 a0009c0010 a0010c0012	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0002c0003t0002 a0002c0005t0001 a0002c0005t0002 a0003c0004t0002 a0005c0006t0001 a0007c0009t0001 a0008c0014t0002 a0009c0010t0001 a0010c0012t0002	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(214): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0067 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0089 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0002t0001g0145 a0001c0002t0001g0147 a0001c0002t0001g0161 a0001c0002t0001g0177 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0204 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0002g0001 a0001c0002t0002g0009 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0084 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0094 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0120 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0130 a0001c0002t0002g0131 a0002c0003t0001g0150 a0002c0003t0001g0156 a0002c0003t0001g0164 a0002c0003t0001g0165 a0002c0003t0001g0180 a0002c0003t0001g0181 a0002c0003t0001g0207 a0002c0003t0001g0213 a0002c0003t0001g0230 a0002c0003t0001g0231 a0002c0003t0001g0232 a0002c0003t0001g0253 a0002c0003t0001g0254 a0002c0003t0002g0048 a0002c0003t0002g0049 a0002c0005t0001g0006 a0002c0005t0001g0249 a0002c0005t0001g0250 a0002c0005t0002g0093 a0002c0005t0002g0095 a0002c0005t0002g0115 a0003c0004t0002g0047 a0005c0006t0001g0143 a0005c0006t0001g0215 a0005c0006t0001g0221 a0005c0006t0001g0222 a0007c0009t0001g0151 a0008c0014t0002g0106 a0009c0010t0001g0077 a0010c0012t0002g0119	219	257	0.8521	-98	c.354 others(113): Show c.354-440_354-343delTATTTCATAATTCTGCCAAATTTTATTTTT AAAAGTAAAGTTTCTTATTATATACATTTGTCATATATGCAGTATAATCA TTTTTCAAAAGCATGGCA		ADAM32	ENSG00000197140.15	transcript	ENST00000379907.9	protein_coding	5/24					INFO_REALIGN_3_PRIME	chr8	TogoVar
ADGRA3_chr4_22382376_22521066	22500441	ATCAACAT others(91): Show ATCAACATTCCAACGTTGGTTGTTATTAGAACTTTCAAATCAGTTAAGGA CACTTGCAACACGGTTCTGAAAGTCAAAGAGCTCTACAGACACCTGAAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00597.hp2 others(74): Show HG00140.hp1 HG00408.hp1 HG00597.hp2 HG00609.hp1 HG00733.hp2 HG00741.hp2 HG01106.hp2 HG01255.hp2 HG01257.hp2 HG01358.hp1 HG01928.hp1 HG01934.hp1 HG02080.hp2 HG02132.hp1 HG02135.hp1 HG02155.hp1 HG02258.hp2 HG02293.hp1 HG02451.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02723.hp1 HG02886.hp1 HG02895.hp2 HG02922.hp2 HG03195.hp1 HG03579.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18946.hp1 NA18949.hp1 NA18950.hp1 NA18951.hp2 NA18954.hp1 NA18964.hp1 NA18969.hp1 NA18972.hp1 NA18975.hp2 NA18977.hp2 NA18980.hp2 NA18983.hp1 NA18986.hp1 NA18998.hp1 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19010.hp2 NA19030.hp2 NA19054.hp1 NA19055.hp1 NA19057.hp1 NA19066.hp1 NA19074.hp2 NA19076.hp1 NA19080.hp1 NA19084.hp1 NA19085.hp1 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA20805.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0002 a0001c0011 others(14): Show a0001c0001 a0001c0002 a0001c0011 a0001c0029 a0001c0038 a0002c0003 a0002c0004 a0002c0005 a0002c0008 a0002c0017 a0002c0026 a0003c0006 a0003c0010 a0004c0007 a0005c0034 a0006c0009 a0007c0012	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0011t0001 a0001c0029t0002 a0001c0038t0001 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0005t0001 a0002c0008t0001 a0002c0017t0001 a0002c0026t0001 a0003c0006t0001 a0003c0006t0002 a0003c0010t0001 a0004c0007t0002 a0005c0034t0002 a0006c0009t0001 a0007c0012t0001	a0001c0001t0001g0159 a0001c0001t0001g0168 a0001c0001t0001g0169 others(74): Show a0001c0001t0001g0159 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0189 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0014 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0161 a0001c0002t0001g0181 a0001c0002t0001g0184 a0001c0002t0001g0188 a0001c0002t0001g0262 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0002g0007 a0001c0002t0002g0016 a0001c0002t0004g0178 a0001c0011t0001g0164 a0001c0011t0001g0174 a0001c0029t0002g0018 a0001c0038t0001g0277 a0002c0003t0001g0170 a0002c0003t0001g0177 a0002c0003t0001g0179 a0002c0003t0002g0017 a0002c0004t0001g0151 a0002c0004t0001g0162 a0002c0004t0001g0166 a0002c0004t0001g0185 a0002c0004t0001g0186 a0002c0004t0001g0190 a0002c0004t0001g0204 a0002c0004t0001g0207 a0002c0004t0001g0267 a0002c0005t0001g0183 a0002c0005t0001g0206 a0002c0008t0001g0156 a0002c0008t0001g0194 a0002c0017t0001g0180 a0002c0017t0001g0193 a0002c0026t0001g0205 a0003c0006t0001g0152 a0003c0006t0001g0153 a0003c0006t0001g0154 a0003c0006t0001g0155 a0003c0006t0001g0157 a0003c0006t0001g0158 a0003c0006t0002g0003 a0003c0010t0001g0175 a0003c0010t0001g0176 a0003c0010t0001g0182 a0003c0010t0001g0192 a0003c0010t0001g0196 a0004c0007t0002g0004 a0004c0007t0002g0005 a0004c0007t0002g0006 a0004c0007t0002g0010 a0004c0007t0002g0011 a0004c0007t0002g0012 a0004c0007t0002g0015 a0005c0034t0002g0008 a0006c0009t0001g0163 a0006c0009t0001g0172 a0006c0009t0001g0173 a0006c0009t0001g0191 a0007c0012t0001g0150 a0007c0012t0001g0160 a0007c0012t0001g0268	77	290	0.2655	-98	c.257 others(117): Show c.257+14989_257+15086delCTTCAGGTGTCTGTAGAGCTCTTTGA CTTTCAGAACCGTGTTGCAAGTGTCCTTAACTGATTTGAAAGTTCTAATA ACAACCAACGTTGGAATGTTGA		ADGRA3	ENSG00000152990.14	transcript	ENST00000334304.10	protein_coding	1/18						chr4	TogoVar
AGBL1_chr15_86074871_86921156	86410835	TATATATA others(91): Show TATATATAATATACTATTTTATATATAAAATATATAATATATATTATAAT ATATATTATATAATATTATATATAATATATGTTATATAATATATATAAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0125 a0001c0003t0008g0125	1	132	0.0076	-98	c.255 others(119): Show c.2555+13296_2555+13393delAATATACTATTTTATATATAAAAT ATATAATATATATTATAATATATATTATATAATATTATATATAATATATG TTATATAATATATATAACATATAT		AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	18/22					INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86633784	GTATATAT others(91): Show GTATATATATATAATGTATATATATATAATGTATGTATATATATATAATG TATATATATATAATGTATATATATATATAATGTATATATATAATGTATA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0053 a0001c0008t0053	a0001c0008t0053g0042 a0001c0008t0053g0042	1	132	0.0076	-98	c.299 others(119): Show c.2995-40460_2995-40363delTGTATGTATATATATATAATGTAT ATATATATAATGTATATATATATATAATGTATATATATAATGTATATATA TATATATAATGTATATATATATAA		AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	21/22					INFO_REALIGN_3_PRIME	chr15	TogoVar
AHRR_chr5_316714_443285	391438	CGGGCGCA others(91): Show CGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGC GGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGA	C C	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA19091.hp1 NA18967.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0064 a0001c0001t0003 a0001c0001t0064	a0001c0001t0003g0162 a0001c0001t0064g0128 a0001c0001t0003g0162 a0001c0001t0064g0128	2	268	0.0075	-98	c.351 others(117): Show c.351+14771_351+14868delCGGGCGCAGGGTGAGGCAGGGCCAGA GCGTGCATGGGGGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAG CGTGCACGGGGGCAGGGCGAGG		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	391618	CGGACACA others(91): Show CGGACACAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCAT GGGGGCAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCAT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA19043.hp1 HG03471.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0009 a0001c0001t0007 a0001c0001t0009	a0001c0001t0007g0032 a0001c0001t0009g0030 a0001c0001t0007g0032 a0001c0001t0009g0030	2	268	0.0075	-98	c.351 others(117): Show c.351+14905_351+15002delACACAGGGCGAGGAGGGCGCAGGGTG AGGCAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGAGGGCGCAGGGTGA GGCAGGGCCAGAGCGTGCATGG		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	391743	CGAGGCAG others(91): Show CGAGGCAGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGAGGGCGCAGGGC GAGGCAGGGCCAGAGCGTGCACGGACACAGGGCGAGGAGGGCGCAGGGT	C C	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0200 a0003c0004t0004g0200	1	268	0.0037	-98	c.351 others(117): Show c.351+15053_351+15150delGGCAGGGCGAGGAGGGCGCAGGGCGA GGCAGGGCCAGAGCGTGCACGGACACAGGGCGAGGAGGGCGCAGGGTGAG GCAGGGCCAGAGCGTGCACGGG		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
AMTN_chr4_70513569_70537743	70516306	ATATATAT others(91): Show ATATATATATATATATATACGTATATATATATATACGTATATATATACAT ATATATGTATATATATACATGTATATATATACGTATATATATATATACG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01358.hp2 HG03098.hp1 others(9): Show HG01123.hp1 HG01358.hp2 HG03098.hp1 NA18612.hp1 NA18947.hp1 NA18956.hp2 NA18964.hp2 NA18985.hp2 NA19001.hp1 NA19067.hp2 NA19077.hp1 NA20752.hp2	a0001 a0009 a0001 a0009	a0001c0002 a0009c0010 a0001c0002 a0009c0010	a0001c0002t0001 a0009c0010t0001 a0001c0002t0001 a0009c0010t0001	a0001c0002t0001g0001 a0001c0002t0001g0018 a0001c0002t0001g0025 others(3): Show a0001c0002t0001g0001 a0001c0002t0001g0018 a0001c0002t0001g0025 a0001c0002t0001g0040 a0001c0002t0001g0073 a0009c0010t0001g0068	12	458	0.0262	-98	c.-23 others(109): Show c.-2363_-2266delTATATATATATATATATACGTATATATATATATA CGTATATATATACATATATATGTATATATATACATGTATATATATACGTA TATATATATATACG		AMTN	ENSG00000187689.10	transcript	ENST00000339336.9	protein_coding					2262		chr4	TogoVar
ANO1_chr11_70073317_70194530	70126794	GTGAATGC others(91): Show GTGAATGCTAGAGGCCTCGGTACAGGCTGGTGCTCCCAGGAGGTGAGACG TGAACGCTAGAGGCCTCGGTGCAGGCTGGCACTTGCGGGAGGTGAGACA	G G	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	302	0.0033	-98	c.109 others(115): Show c.1097+752_1097+849delGCTAGAGGCCTCGGTGCAGGCTGGCACT TGCGGGAGGTGAGACATGAATGCTAGAGGCCTCGGTACAGGCTGGTGCTC CCAGGAGGTGAGACGTGAAC		ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding	10/25					INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO9_chr11_412938_447011	436697	GGGGGTAA others(91): Show GGGGGTAAGCAGGGGGTGAGCAGGGGGTGAGCTGGGGGTGAGCAGGGGGT GAGCAGGGGGTAAGCAGGGGGTGAGCAGGGGGTGAGCTGGGGGTGAGCT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01517.hp1 HG00438.hp2 HG01517.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0004c0004t0001 a0002c0002t0001 a0004c0004t0001	a0002c0002t0001g0024 a0004c0004t0001g0030 a0002c0002t0001g0024 a0004c0004t0001g0030	2	286	0.0070	-98	c.7-2 others(111): Show c.7-2697_7-2600delAGCTCACCCCCAGCTCACCCCCTGCTCACCCC CTGCTTACCCCCTGCTCACCCCCTGCTCACCCCCAGCTCACCCCCTGCTC ACCCCCTGCTTACCCC		ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	1/22						chr11	TogoVar
ARHGAP21_chr10_24578614_24728887	24656661	TGCCCGGC others(91): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp2 others(31): Show HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG01099.hp1 HG01256.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG02027.hp2 HG02055.hp1 HG02074.hp2 HG02080.hp1 HG02148.hp1 HG02451.hp1 HG02630.hp1 HG02698.hp2 HG02723.hp2 HG02895.hp2 HG03017.hp2 HG03139.hp1 HG03239.hp1 HG03453.hp1 HG03486.hp1 NA18522.hp1 NA18953.hp2 NA18995.hp1 NA19065.hp2 NA19070.hp1 NA19081.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0002c0017 others(1): Show a0001c0001 a0002c0002 a0002c0017 a0005c0005	a0001c0001t0003 a0002c0002t0001 a0002c0002t0007 others(3): Show a0001c0001t0003 a0002c0002t0001 a0002c0002t0007 a0002c0002t0014 a0002c0017t0001 a0005c0005t0001	a0001c0001t0003g0155 a0002c0002t0001g0017 a0002c0002t0001g0019 others(31): Show a0001c0001t0003g0155 a0002c0002t0001g0017 a0002c0002t0001g0019 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0153 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0283 a0002c0002t0007g0008 a0002c0002t0007g0009 a0002c0002t0014g0105 a0002c0017t0001g0041 a0005c0005t0001g0103 a0005c0005t0001g0104 a0005c0005t0001g0284	34	352	0.0966	-98	c.268 others(117): Show c.268+10226_268+10323delGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGC		ARHGAP21	ENSG00000107863.20	transcript	ENST00000396432.7	protein_coding	4/25						chr10	TogoVar
ARHGAP8_chr22_44747575_44867784	44800665	CCTCCCCG others(91): Show CCTCCCCGCAGCTGTCCATGTGTGGGGGGCGCCCCTCCCCGCAGCTGTCC GTGTGAGGGGGTGCCTCTCCCCGCAGCTGTCCGTGTGTGGGGGCCGCCT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0122 a0001c0001t0003g0122	1	390	0.0026	-98	c.80- others(113): Show c.80-1395_80-1298delATGTGTGGGGGGCGCCCCTCCCCGCAGCTG TCCGTGTGAGGGGGTGCCTCTCCCCGCAGCTGTCCGTGTGTGGGGGCCGC CTCTCCCCGCAGCTGTCC		ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ARHGAP8_chr22_44747575_44867784	44800698	CCTCCCCG others(91): Show CCTCCCCGCAGCTGTCCGTGTGAGGGGGTGCCTCTCCCCGCAGCTGTCCG TGTGTGGGGGCCGCCTCTCCCCGCAGCTGTCCGTGTGTGGGGGCCGCCT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0069 a0001c0007t0001g0069	1	390	0.0026	-98	c.80- others(113): Show c.80-1357_80-1260delAGGGGGTGCCTCTCCCCGCAGCTGTCCGTG TGTGGGGGCCGCCTCTCCCCGCAGCTGTCCGTGTGTGGGGGCCGCCTCTC CCCGCAGCTGTCCGTGTG		ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ARHGEF7_chr13_111110310_111310732	111221253	ATCTATAT others(91): Show ATCTATATAGATATATATGTCTATATATATCTATATAGATATATATGTCT ATATATATCTATATATAGATATATATGTCTATATATATCTATATATATG	A A	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0085 a0001c0001t0003g0085	1	274	0.0037	-98	c.670 others(115): Show c.670+3382_670+3479delGATATATATGTCTATATATATCTATATA GATATATATGTCTATATATATCTATATATAGATATATATGTCTATATATA TCTATATATATGTCTATATA		ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	5/21					INFO_REALIGN_3_PRIME	chr13	TogoVar
ARRB2_chr17_4705632_4726497	4714684	GAAATAGG others(91): Show GAAATAGGAAGGACCTTCCGGGAAGAAGGGTTCCCCTTGCCACCACGTTA GAAATAGGAAGGACCTTCCGGGAAGAAGGGTTCCCCTTGCCACCACGTT	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	432	0.0023	-98	c.24- others(111): Show c.24-327_24-230delAATAGGAAGGACCTTCCGGGAAGAAGGGTTCC CCTTGCCACCACGTTAGAAATAGGAAGGACCTTCCGGGAAGAAGGGTTCC CCTTGCCACCACGTTA		ARRB2	ENSG00000141480.18	transcript	ENST00000269260.7	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr17	TogoVar
ATP8B4_chr15_49853238_50124233	50086659	TAGAGATC others(91): Show TAGAGATCTATATTTATTATATATAATAAAATAATAGAGATCTATATTAT TATATATAATAAAATAATATAGAGATCTATATTTATTATATATAAAATA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00735.hp1 HG02004.hp2 others(2): Show HG00280.hp1 HG00735.hp1 HG02004.hp2 HG03491.hp2 HG03492.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0002c0002t0006 others(1): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0006 a0003c0003t0001	a0001c0001t0001g0113 a0001c0001t0003g0122 a0001c0001t0003g0123 others(2): Show a0001c0001t0001g0113 a0001c0001t0003g0122 a0001c0001t0003g0123 a0002c0002t0006g0104 a0003c0003t0001g0106	5	254	0.0197	-98	c.29- others(115): Show c.29-12572_29-12475delTATTTTATATATAATAAATATAGATCTC TATATTATTTTATTATATATAATAATATAGATCTCTATTATTTTATTATA TATAATAAATATAGATCTCT		ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27						chr15	TogoVar
AURKA_chr20_56364390_56397215	56365905	AAGTGCTA others(91): Show AAGTGCTAGGATTACAGGCGTGAGCCACTGCACCTGGCCACTAAGACTTT TATTCATTCAGCTACTTCATTACATTTTTTAAAATACTGTAAATCTTAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00642.hp2 HG00741.hp2 others(39): Show HG00639.hp1 HG00642.hp2 HG00741.hp2 HG01069.hp1 HG01074.hp2 HG01106.hp1 HG01167.hp1 HG01169.hp1 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01361.hp2 HG01433.hp2 HG01517.hp1 HG02055.hp2 HG02257.hp1 HG02280.hp2 HG02486.hp2 HG02572.hp1 HG02602.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp2 HG02735.hp1 HG02895.hp1 HG02897.hp2 HG03017.hp1 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp1 NA19043.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0002 a0001c0001t0003 a0002c0002t0002 others(1): Show a0001c0001t0002 a0001c0001t0003 a0002c0002t0002 a0003c0003t0002	a0001c0001t0002g0012 a0001c0001t0002g0026 a0001c0001t0002g0029 others(31): Show a0001c0001t0002g0012 a0001c0001t0002g0026 a0001c0001t0002g0029 a0001c0001t0002g0081 a0001c0001t0002g0093 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0183 a0001c0001t0002g0188 a0001c0001t0002g0206 a0001c0001t0002g0210 a0001c0001t0002g0243 a0001c0001t0002g0249 a0001c0001t0002g0265 a0001c0001t0003g0035 a0001c0001t0003g0075 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0201 a0001c0001t0003g0222 a0001c0001t0003g0266 a0001c0001t0003g0270 a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0038 a0002c0002t0002g0063 a0002c0002t0002g0111 a0002c0002t0002g0130 a0002c0002t0002g0246 a0003c0003t0002g0067 a0003c0003t0002g0156 a0003c0003t0002g0191 a0003c0003t0002g0212	42	384	0.1094	-98	c.41 others(109): Show c.4155_*4252delATAAGATTTACAGTATTTTAAAAAATGTAATGAA GTAGCTGAATGAATAAAAGTCTTAGTGGCCAGGTGCAGTGGCTCACGCCT GTAATCCTAGCACT		AURKA	ENSG00000087586.18	transcript	ENST00000395915.8	protein_coding					3484		chr20	TogoVar
BBS4_chr15_72681207_72743473	72725798	CCCCCATC others(91): Show CCCCCATCCCCCTTCCCCCATCCCCCTTTCCCCATCCCCCTTTCCCCATC CCCCTTTCCCCATCCCCCTTTCCCCATCCCCCTTTCCCCATCCCCCTTT	C C	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0359 a0001c0004t0001g0359	1	398	0.0025	-98	c.587 others(115): Show c.587+1157_587+1254delCCCCCATCCCCCTTTCCCCATCCCCCTT TCCCCATCCCCCTTTCCCCATCCCCCTTTCCCCATCCCCCTTTCCCCATC CCCCTTTCCCCATCCCCCTT		BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	8/15					INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72725833	CCCCCTTT others(91): Show CCCCCTTTCCCCATCCCCCTTTCCCCATCCCCCTTTCCCCATCCCCCTTT CCCCATCCCCCTTTCCCCATCCCCCTTTCCCCATCCCCCTTCCCCCTTT	C C	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19079.hp1 NA19054.hp1 NA19079.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0291 a0002c0002t0001g0339 a0002c0002t0001g0291 a0002c0002t0001g0339	2	398	0.0050	-98	c.587 others(115): Show c.587+1185_587+1282delTCCCCATCCCCCTTTCCCCATCCCCCTT TCCCCATCCCCCTTTCCCCATCCCCCTTTCCCCATCCCCCTTTCCCCATC CCCCTTCCCCCTTTCCCCTT		BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	8/15					INFO_REALIGN_3_PRIME	chr15	TogoVar
BBX_chr3_107517962_107816339	107584085	ATATCATA others(91): Show ATATCATATATTATATATATTATATATTATATATAATATATATATTATTA TATATATTATATATAATATATGATATATATATTATTATATATATTATAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00738.hp1 HG01070.hp1 others(31): Show HG00735.hp2 HG00738.hp1 HG01070.hp1 HG01256.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01993.hp2 HG02145.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02922.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03209.hp1 HG03239.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03831.hp2 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0007 a0002c0002 others(1): Show a0001c0001 a0001c0007 a0002c0002 a0004c0005	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(18): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0020 a0001c0001t0023 a0001c0001t0025 a0001c0001t0029 a0001c0001t0042 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0059 a0001c0007t0014 a0002c0002t0002 a0002c0002t0005 a0002c0002t0050 a0004c0005t0001 a0004c0005t0002	a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0013 others(31): Show a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0013 a0001c0001t0002g0031 a0001c0001t0002g0200 a0001c0001t0004g0017 a0001c0001t0006g0203 a0001c0001t0010g0036 a0001c0001t0010g0100 a0001c0001t0010g0103 a0001c0001t0014g0030 a0001c0001t0014g0208 a0001c0001t0015g0037 a0001c0001t0015g0038 a0001c0001t0020g0023 a0001c0001t0020g0098 a0001c0001t0023g0102 a0001c0001t0025g0171 a0001c0001t0029g0160 a0001c0001t0042g0007 a0001c0001t0052g0029 a0001c0001t0053g0032 a0001c0001t0054g0022 a0001c0001t0059g0012 a0001c0007t0014g0047 a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0008 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0005g0010 a0002c0002t0050g0011 a0004c0005t0001g0064 a0004c0005t0002g0161	34	222	0.1532	-98	c.-84 others(117): Show c.-84+57688_-84+57785delTATCATATATTATATATATTATATAT TATATATAATATATATATTATTATATATATTATATATAATATATGATATA TATATTATTATATATATTATAT		BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	2/17						chr3	TogoVar
BDP1_chr5_71450651_71572820	71525467	CGGGGCGG others(91): Show CGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCTACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCTCCCCACCTCCCTCCCGGAT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0035 a0035	a0035c0032 a0035c0032	a0035c0032t0001 a0035c0032t0001	a0035c0032t0001g0114 a0035c0032t0001g0114	1	325	0.0031	-98	c.577 others(117): Show c.5772+1173_5772+1270delACCCCTACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCTGACCTCCCCACCTCCCTCCCGGATGGGGCG GCTGGCCGGGCGGGGGGCTGAC		BDP1	ENSG00000145734.20	transcript	ENST00000358731.9	protein_coding	25/38					INFO_REALIGN_3_PRIME	chr5	TogoVar
BLOC1S2_chr10_100268293_100291680	100277557	GGGGGTCA others(91): Show GGGGGTCAGCCCCCCGCCCGGCCAGCCGCTCCGTCCGGGAGGGAGGTGGG AGGGGGTCAGCCCCCCTGCCCAGCCAGCCACCCCGTCCAGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0212 a0002c0002t0007g0212	1	378	0.0027	-98	c.398 others(115): Show c.398-2162_398-2065delACCTCCCTCCTGGACGGGGTGGCTGGCT GGGCAGGGGGGCTGACCCCCTCCCACCTCCCTCCCGGACGGAGCGGCTGG CCGGGCGGGGGGCTGACCCC		BLOC1S2	ENSG00000196072.12	transcript	ENST00000370372.7	protein_coding	4/4						chr10	TogoVar
C12orf56_chr12_64259762_64395758	64366268	TTATATAT others(91): Show TTATATATTATATATAATATACAGTTTATATATTATATATTATATACAGT TTATTATATATTATATACAGTTTATATATTATATATTATATACAGTTTA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03471.hp1 HG02451.hp1 HG03471.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0007c0016 a0002c0002 a0007c0016	a0002c0002t0001 a0007c0016t0002 a0002c0002t0001 a0007c0016t0002	a0002c0002t0001g0306 a0007c0016t0002g0305 a0002c0002t0001g0306 a0007c0016t0002g0305	2	312	0.0064	-98	c.253 others(117): Show c.253-13310_253-13213delTAAACTGTATATAATATATAATATAT AAACTGTATATAATATATAATAAACTGTATATAATATATAATATATAAAC TGTATATTATATATAATATATA		C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	1/12						chr12	TogoVar
C2CD4C_chr19_400445_414147	404269	TCCTGAGG others(91): Show TCCTGAGGGGTCTGAGGGGGGGACGGGGTCCTGCCCTGAGGGGGTGTGGG GGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGGGACGGGGTCCTGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00423.hp2 others(66): Show HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01258.hp2 HG01361.hp1 HG01516.hp1 HG01516.hp2 HG01952.hp1 HG01975.hp1 HG02129.hp1 HG02165.hp1 HG02258.hp2 HG02735.hp1 HG03017.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03834.hp1 HG04228.hp1 NA18906.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp2 NA18956.hp2 NA18960.hp1 NA18967.hp1 NA18967.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18980.hp1 NA18980.hp2 NA18990.hp2 NA18995.hp2 NA18997.hp1 NA19005.hp2 NA19054.hp2 NA19056.hp2 NA19063.hp1 NA19067.hp2 NA19088.hp2 NA20129.hp1 NA20752.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 a0000 a0001 a0002	a0000c0003 a0001c0001 a0001c0002 others(1): Show a0000c0003 a0001c0001 a0001c0002 a0002c0005	a0000c0003t0001 a0000c0003t0021 a0001c0001t0001 others(33): Show a0000c0003t0001 a0000c0003t0021 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0014 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0030 a0001c0001t0034 a0001c0001t0046 a0001c0001t0054 a0001c0001t0065 a0001c0001t0075 a0001c0001t0086 a0001c0001t0100 a0001c0001t0101 a0001c0001t0128 a0001c0001t0134 a0001c0001t0139 a0001c0002t0001 a0001c0002t0002 a0001c0002t0011 a0001c0002t0028 a0001c0002t0029 a0001c0002t0037 a0001c0002t0039 a0001c0002t0068 a0001c0002t0072 a0001c0002t0074 a0002c0005t0001 a0002c0005t0006 a0002c0005t0023	a0000c0003t0001g0023 a0000c0003t0021g0120 a0001c0001t0001g0001 others(35): Show a0000c0003t0001g0023 a0000c0003t0021g0120 a0001c0001t0001g0001 a0001c0001t0001g0177 a0001c0001t0002g0033 a0001c0001t0005g0006 a0001c0001t0006g0005 a0001c0001t0009g0061 a0001c0001t0014g0009 a0001c0001t0021g0022 a0001c0001t0024g0017 a0001c0001t0025g0021 a0001c0001t0030g0042 a0001c0001t0034g0031 a0001c0001t0046g0152 a0001c0001t0054g0160 a0001c0001t0065g0071 a0001c0001t0075g0072 a0001c0001t0086g0076 a0001c0001t0100g0164 a0001c0001t0101g0080 a0001c0001t0128g0103 a0001c0001t0134g0107 a0001c0001t0139g0112 a0001c0002t0001g0058 a0001c0002t0002g0003 a0001c0002t0011g0007 a0001c0002t0028g0037 a0001c0002t0029g0038 a0001c0002t0037g0051 a0001c0002t0037g0059 a0001c0002t0039g0138 a0001c0002t0068g0129 a0001c0002t0072g0133 a0001c0002t0074g0054 a0002c0005t0001g0147 a0002c0005t0006g0169 a0002c0005t0023g0145	69	322	0.2143	-98	c.27 others(109): Show c.2729_*2826delGCAGGACCCCGTCCCCCCCCCACACCCCTCAGGG CAGGACCCCGTCCCCCCCACACCCCCTCAGGGCAGGACCCCGTCCCCCCC TCAGACCCCTCAGG		C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding					1175		chr19	TogoVar
C2CD4C_chr19_400445_414147	404307	AGGGGGTG others(91): Show AGGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGGGA CGGGGTCCTGCCCTGAGGGGTCTGAGGGGGGGACGGGGTCCTGCCCTGA	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	322	0.0031	-98	c.26 others(109): Show c.2691_*2788delTCAGGGCAGGACCCCGTCCCCCCCTCAGACCCCT CAGGGCAGGACCCCGTCCCCCCCCCACACCCCTCAGGGCAGGACCCCGTC CCCCCCACACCCCC		C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding					1137		chr19	TogoVar
C2_chr6_31922717_31950672	31931870	AGGGCGGC others(91): Show AGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACG GCGCGGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACG	A A	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18968.hp1 NA18981.hp2 others(4): Show NA18944.hp2 NA18968.hp1 NA18981.hp2 NA19060.hp1 NA19076.hp1 NA19083.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0096 a0001c0001t0001g0100 others(1): Show a0001c0001t0001g0017 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0131	7	395	0.0177	-98	c.443 others(115): Show c.443-1691_443-1594delGGCGCGGCTGGCCGGGCGGGGGGCTGAT CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGAC		C2	ENSG00000166278.16	transcript	ENST00000299367.10	protein_coding	3/17					INFO_REALIGN_3_PRIME	chr6	TogoVar
C4BPB_chr1_207083860_207104993	207098959	ATCTCATC others(91): Show ATCTCATCTGGGAGTGATGGGAGACAGTGACAGATCATCAGGCATTAGAT TCTCATCTGGGAGTGATGGGAGACAGTGACAGATCATCAGGCATTAGAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02109.hp2 HG02717.hp1 HG01109.hp2 HG02109.hp2 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0111 a0001c0002t0001g0024 a0001c0002t0001g0111	3	388	0.0077	-98	c.619 others(113): Show c.619-737_619-640delTTAGATTCTCATCTGGGAGTGATGGGAGAC AGTGACAGATCATCAGGCATTAGATTCTCATCTGGGAGTGATGGGAGACA GTGACAGATCATCAGGCA		C4BPB	ENSG00000123843.13	transcript	ENST00000367078.8	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
C8orf33_chr8_145047467_145061030	145052242	CCGCCCCG others(91): Show CCGCCCCGCCCGCTCCCCGCCCCGCCCGCGCCCCGCCCGCGCCCCGCCCC GCCCGCGCCCCGCCCGCGCCCCGCCCGCGCCCCGCCCGCGCCCCGCCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	406	0.0025	-98	c.-24 others(107): Show c.-249_-152delCGCCCCGCCCGCTCCCCGCCCCGCCCGCGCCCCGCC CGCGCCCCGCCCCGCCCGCGCCCCGCCCGCGCCCCGCCCGCGCCCCGCCC GCGCCCCGCCCG		C8orf33	ENSG00000182307.14	transcript	ENST00000331434.7	protein_coding					224		chr8	TogoVar
CAB39L_chr13_49303650_49449064	49318483	AGGGAAAG others(91): Show AGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAG GGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00639.hp1 HG00642.hp1 others(9): Show HG00438.hp1 HG00639.hp1 HG00642.hp1 HG02293.hp2 HG02300.hp2 NA18959.hp1 NA18991.hp2 NA19065.hp2 NA19066.hp2 NA19086.hp1 NA19091.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0175 a0001c0001t0002g0191 a0001c0002t0002g0074 others(9): Show a0001c0001t0002g0175 a0001c0001t0002g0191 a0001c0002t0002g0074 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0118 a0001c0002t0002g0168 a0001c0002t0002g0188 a0001c0002t0002g0224 a0001c0002t0002g0226 a0001c0002t0002g0241 a0001c0002t0002g0256	12	324	0.0370	-98	c.835 others(115): Show c.835-7588_835-7491delCCTTTCCCTTTCCCTTTCCCTTTCCCTT TCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTC CCTTTCCCTTTCCCTTTCCC		CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10						chr13	TogoVar
CACHD1_chr1_64465129_64698053	64502596	GTACAGCA others(91): Show GTACAGCATAAAATCTTTTTAGATTATAATTTTTGTTTCTATTGCACATT CTCTTATGGTGGGGGAATTTCAGGTTAAAAAGGAAAATACCAACTCTGT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01192.hp1 HG01192.hp2 others(29): Show HG00639.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG02257.hp2 HG02258.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG06807.hp2 NA18522.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0003t0004 a0001c0004t0012	a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0110 others(29): Show a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0002g0013 a0001c0001t0003g0162 a0001c0001t0004g0108 a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0008 a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0008g0005 a0001c0001t0008g0009 a0001c0001t0008g0010 a0001c0001t0013g0114 a0001c0001t0014g0006 a0001c0001t0019g0109 a0001c0002t0001g0112 a0001c0002t0001g0158 a0001c0002t0001g0163 a0001c0002t0004g0166 a0001c0002t0005g0004 a0001c0002t0005g0007 a0001c0002t0005g0016 a0001c0003t0004g0117 a0001c0004t0012g0115	32	166	0.1928	-98	c.198 others(117): Show c.198+31655_198+31752delTACAGCATAAAATCTTTTTAGATTAT AATTTTTGTTTCTATTGCACATTCTCTTATGGTGGGGGAATTTCAGGTTA AAAAGGAAAATACCAACTCTGT		CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	1/26						chr1	TogoVar
CACNA1I_chr22_39565753_39694735	39653046	GGTGGCTA others(91): Show GGTGGCTAAGAGGGCTGACTGCATTGTGGGTGCACGGAGCCCCCCACACG GTGGCTAAGAGGGCTGACTGCATTGTGGGTGCACGGAGCCCCCCACACA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp1 HG02486.hp1 others(5): Show HG01243.hp2 HG02055.hp1 HG02486.hp1 HG02572.hp1 HG03139.hp2 HG03453.hp2 HG06807.hp2 NA19043.hp1	a0001 a0014 a0020 a0001 a0014 a0020	a0001c0009 a0014c0033 a0020c0042 a0001c0009 a0014c0033 a0020c0042	a0001c0009t0002 a0001c0009t0003 a0001c0009t0004 others(3): Show a0001c0009t0002 a0001c0009t0003 a0001c0009t0004 a0001c0009t0007 a0014c0033t0002 a0020c0042t0005	a0001c0009t0002g0009 a0001c0009t0003g0103 a0001c0009t0004g0132 others(5): Show a0001c0009t0002g0009 a0001c0009t0003g0103 a0001c0009t0004g0132 a0001c0009t0007g0104 a0001c0009t0007g0105 a0001c0009t0007g0135 a0014c0033t0002g0078 a0020c0042t0005g0077	8	236	0.0339	-98	c.199 others(117): Show c.1992+3147_1992+3244delTGGGTGCACGGAGCCCCCCACACGGT GGCTAAGAGGGCTGACTGCATTGTGGGTGCACGGAGCCCCCCACACAGTG GCTAAGAGGGCTGACTGCATTG		CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	10/36					INFO_REALIGN_3_PRIME	chr22	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)