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
ZNF618_chr9_113871309_114061593	113951427	G G	GTATATAT others(93): Show GTATATATATATACACACATATATGTGTGTGTATATATATATATACACAT ACACATATATGTGTGTATATATACACATATATGTGTATATATACATATAT A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0010 a0001c0003t0003g0010	1	264	0.0038	100	c.34- others(117): Show c.34-17689_34-17688insATATATATATACACACATATATGTGTGT GTATATATATATATACACATACACATATATGTGTGTATATATACACATAT ATGTGTATATATACATATATAT	ZNF618	ENSG00000157657.15	transcript	ENST00000374126.10	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
ZNF644_chr1_90910304_91027035	90950277	A A	AAGGGGAG others(93): Show AAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0300 a0001c0001t0005g0300	1	314	0.0032	100	c.45- others(115): Show c.45-8969_45-8968insCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCT	ZNF644	ENSG00000122482.22	transcript	ENST00000337393.10	protein_coding	2/5			chr1	TogoVar
ZNF644_chr1_90910304_91027035	90950292	A A	AAGGGGAG others(93): Show AAGGGGAGGGGAGGGGAGGGCAGGGCAGGGCAGGGCAGGGCAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01257.hp1 HG01258.hp2 others(10): Show HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01884.hp1 HG02015.hp1 HG02109.hp1 HG02135.hp2 NA18994.hp1 NA19004.hp1 NA19006.hp1 NA19006.hp2 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0001 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0022 a0001c0001t0001g0046 a0001c0001t0001g0048 others(10): Show a0001c0001t0001g0022 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0103 a0001c0001t0001g0131 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0003g0010 a0001c0001t0003g0122 a0001c0001t0008g0085 a0001c0001t0008g0203	13	314	0.0414	100	c.45- others(115): Show c.45-8984_45-8983insCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTGCCCTGCCCTGCCCTGCCCT GCCCTCCCCTCCCCTCCCCT	ZNF644	ENSG00000122482.22	transcript	ENST00000337393.10	protein_coding	2/5			chr1	TogoVar
ZNF644_chr1_90910304_91027035	90950292	A A	AAGGGGAG others(93): Show AAGGGGAGGGGAGGGGAGGGGAGGGCAGGGCAGGGCAGGGCAGGGCAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG G	intron_variant intron_variant	MODIFIER	HG01258.hp1 NA18983.hp2 NA19086.hp2 HG01258.hp1 NA18983.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0173 a0001c0001t0001g0179 a0001c0001t0001g0163 a0001c0001t0001g0173 a0001c0001t0001g0179	3	314	0.0096	100	c.45- others(115): Show c.45-8984_45-8983insCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTGCCCTGCCCTGCCCTGCCCTGCCCT CCCCTCCCCTCCCCTCCCCT	ZNF644	ENSG00000122482.22	transcript	ENST00000337393.10	protein_coding	2/5			chr1	TogoVar
ZNF644_chr1_90910304_91027035	90950292	A A	AAGGGGAG others(93): Show AAGGGGAGGGGAGGGGAGGGGAGGGCAGGGCAGGGCAGGGCAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG G	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA19063.hp2 NA20129.hp1 others(1): Show HG03098.hp2 NA19063.hp2 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0204 a0001c0001t0001g0209 others(1): Show a0001c0001t0001g0186 a0001c0001t0001g0204 a0001c0001t0001g0209 a0001c0001t0001g0211	4	314	0.0127	100	c.45- others(115): Show c.45-8984_45-8983insCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTGCCCTGCCCTGCCCTGCCCT CCCCTCCCCTCCCCTCCCCT	ZNF644	ENSG00000122482.22	transcript	ENST00000337393.10	protein_coding	2/5			chr1	TogoVar
ZNF644_chr1_90910304_91027035	90950307	G G	GAGGGCAG others(93): Show GAGGGCAGGGCAGGGCAGGGCAGGGCAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGACAAAAGAAAAGAA A	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA21309.hp2 HG02015.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0105 a0001c0001t0001g0017 a0001c0001t0001g0105	2	314	0.0064	100	c.45- others(115): Show c.45-8999_45-8998insTTTCTTTTCTTTTGTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTGCCCT GCCCTGCCCTGCCCTGCCCT	ZNF644	ENSG00000122482.22	transcript	ENST00000337393.10	protein_coding	2/5			chr1	TogoVar
ZNF644_chr1_90910304_91027035	90950307	G G	GAGGGCAG others(93): Show GAGGGCAGGGCAGGGCAGGGCAGGGCAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGACAAAAGAA A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00438.hp1 others(21): Show HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00597.hp2 HG01081.hp1 HG01261.hp1 HG01515.hp2 HG01975.hp2 HG03942.hp1 NA18747.hp1 NA18954.hp2 NA18963.hp1 NA18978.hp2 NA18981.hp2 NA18983.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA19060.hp1 NA19064.hp1 NA19064.hp2 NA19083.hp2 NA20805.hp2 NA20905.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0010 a0001c0001 a0009c0010	a0001c0001t0001 a0009c0010t0001 a0001c0001t0001 a0009c0010t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 others(21): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0024 a0001c0001t0001g0081 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0205 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0274 a0009c0010t0001g0138	24	314	0.0764	100	c.45- others(115): Show c.45-8999_45-8998insTTTCTTTTGTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTGCCCT GCCCTGCCCTGCCCTGCCCT	ZNF644	ENSG00000122482.22	transcript	ENST00000337393.10	protein_coding	2/5			chr1	TogoVar
ZNF681_chr19_23734195_23763891	23761901	A A	ATTCTTTC others(93): Show ATTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTC TCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp1 NA19074.hp1 NA19082.hp2 NA19068.hp1 NA19074.hp1 NA19082.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0023 a0002c0002t0001g0223 a0002c0002t0001g0235 a0002c0002t0001g0023 a0002c0002t0001g0223 a0002c0002t0001g0235	3	394	0.0076	100	c.-31 others(111): Show c.-3153_-3152insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAAAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAA	ZNF681	ENSG00000196172.9	transcript	ENST00000402377.3	protein_coding		3011		chr19	TogoVar
ZNF681_chr19_23734195_23763891	23761901	A A	ATTCTTTC others(93): Show ATTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTC TCTCTCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 NA19030.hp2 HG02280.hp1 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0055 a0002c0002t0014g0237 a0002c0002t0014g0055 a0002c0002t0014g0237	2	394	0.0051	100	c.-31 others(111): Show c.-3153_-3152insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAAAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAA	ZNF681	ENSG00000196172.9	transcript	ENST00000402377.3	protein_coding		3011		chr19	TogoVar
ZNF681_chr19_23734195_23763891	23761901	A A	ATTCTTTC others(93): Show ATTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC TCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0054 a0002c0002t0001g0054	1	394	0.0025	100	c.-31 others(111): Show c.-3153_-3152insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAAAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAA	ZNF681	ENSG00000196172.9	transcript	ENST00000402377.3	protein_coding		3011		chr19	TogoVar
ZNF723_chr19_22827291_22863667	22862560	A A	ATGTAATA others(93): Show ATGTAATATAATATATATATTATATATGTAATATAATATATATATTATAT GTGTAATATAATATATATATTATATGTGTAATATAATATATATATTATAT G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG02258.hp1 HG02523.hp2 others(2): Show HG00558.hp2 HG02258.hp1 HG02523.hp2 HG02735.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0092 others(2): Show a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0122	5	364	0.0137	100	c.41 others(111): Show c.4127_*4128insTGTAATATAATATATATATTATATATGTAATATA ATATATATATTATATGTGTAATATAATATATATATTATATGTGTAATATA ATATATATATTATATG	ZNF723	ENSG00000268696.3	transcript	ENST00000600766.3	protein_coding		3894		chr19	TogoVar
ZNF723_chr19_22827291_22863667	22862560	A A	ATGTAATA others(93): Show ATGTAATATAATATATATATTATATGTGTAATATAATATATATATTATAT GTGTAATATAATATATATATTATATGTGTAATATAATATATATATTATAT G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01978.hp1 HG02055.hp2 HG01081.hp2 HG01978.hp1 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0118 a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0118	3	364	0.0082	100	c.41 others(111): Show c.4127_*4128insTGTAATATAATATATATATTATATGTGTAATATA ATATATATATTATATGTGTAATATAATATATATATTATATGTGTAATATA ATATATATATTATATG	ZNF723	ENSG00000268696.3	transcript	ENST00000600766.3	protein_coding		3894		chr19	TogoVar
ZNF732_chr4_265675_310474	299444	T T	TATACACA others(93): Show TATACACATATATACACATATGTGTATATATATACACATATATACACATA TGTGTATATATATATACACATATATACACATATGTGTATATATATATACA C	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03927.hp1 HG02738.hp2 HG03927.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0099 a0003c0004t0001g0248 a0003c0004t0001g0099 a0003c0004t0001g0248	2	326	0.0061	100	c.4-3 others(113): Show c.4-3290_4-3289insGTGTATATATATATACACATATGTGTATATAT GTGTATATATATATACACATATGTGTATATATGTGTATATATATACACAT ATGTGTATATATGTGTAT	ZNF732	ENSG00000186777.13	transcript	ENST00000419098.6	protein_coding	1/3			chr4	TogoVar
ZNF736_chr7_64308961_64361634	64357844	C C	CCCACAGC others(93): Show CCCACAGCCACTTTTGTGGGCCCACCTGGGCCTCCTCACTCCACTGGCCA GTGAAACCCAACTGGAATTCCTGAGTCCAGAATTCACATTTGGTTCTAGA A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp2 others(260): Show HG00140.hp1 HG00140.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03710.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18955.hp2 NA18956.hp1 NA18959.hp1 NA18961.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp2 NA18970.hp2 NA18971.hp1 NA18976.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18982.hp1 NA18985.hp2 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19003.hp2 NA19004.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19072.hp2 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0002c0002 a0002c0003 others(5): Show a0001c0001 a0002c0002 a0002c0003 a0003c0004 a0004c0005 a0005c0007 a0006c0006 a0007c0008	a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 others(55): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0017 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0085 a0001c0001t0086 a0002c0002t0002 a0002c0002t0004 a0002c0002t0010 a0002c0002t0014 a0002c0002t0016 a0002c0002t0022 a0002c0002t0023 a0002c0002t0030 a0002c0002t0032 a0002c0002t0034 a0002c0002t0058 a0002c0002t0061 a0002c0002t0066 a0002c0002t0067 a0002c0002t0068 a0002c0002t0069 a0002c0002t0070 a0002c0002t0071 a0002c0002t0073 a0002c0002t0084 a0002c0003t0004 a0002c0003t0009 a0002c0003t0010 a0002c0003t0019 a0002c0003t0020 a0002c0003t0021 a0002c0003t0031 a0002c0003t0033 a0002c0003t0059 a0002c0003t0063 a0002c0003t0064 a0002c0003t0065 a0003c0004t0007 a0003c0004t0025 a0004c0005t0029 a0004c0005t0060 a0004c0005t0062 a0004c0005t0072 a0005c0007t0010 a0006c0006t0002 a0007c0008t0009	a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 others(236): Show a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0270 a0001c0001t0005g0031 a0001c0001t0005g0234 a0001c0001t0005g0235 a0001c0001t0005g0240 a0001c0001t0005g0241 a0001c0001t0005g0243 a0001c0001t0005g0244 a0001c0001t0005g0245 a0001c0001t0005g0247 a0001c0001t0005g0249 a0001c0001t0005g0250 a0001c0001t0005g0251 a0001c0001t0005g0252 a0001c0001t0005g0253 a0001c0001t0005g0254 a0001c0001t0005g0255 a0001c0001t0005g0256 a0001c0001t0005g0257 a0001c0001t0005g0258 a0001c0001t0005g0260 a0001c0001t0005g0261 a0001c0001t0005g0262 a0001c0001t0005g0263 a0001c0001t0007g0043 a0001c0001t0007g0154 a0001c0001t0007g0155 a0001c0001t0007g0157 a0001c0001t0007g0158 a0001c0001t0007g0164 a0001c0001t0007g0165 a0001c0001t0007g0166 a0001c0001t0007g0167 a0001c0001t0011g0024 a0001c0001t0011g0025 a0001c0001t0011g0040 a0001c0001t0011g0168 a0001c0001t0011g0170 a0001c0001t0011g0171 a0001c0001t0011g0174 a0001c0001t0017g0030 a0001c0001t0017g0238 a0001c0001t0017g0239 a0001c0001t0025g0161 a0001c0001t0026g0031 a0001c0001t0026g0259 a0001c0001t0027g0236 a0001c0001t0027g0237 a0001c0001t0039g0169 a0001c0001t0040g0264 a0001c0001t0042g0147 a0001c0001t0045g0246 a0001c0001t0046g0248 a0001c0001t0047g0242 a0001c0001t0048g0131 a0001c0001t0085g0173 a0001c0001t0086g0172 a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0041 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0093 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0120 a0002c0002t0004g0007 a0002c0002t0010g0008 a0002c0002t0010g0224 a0002c0002t0010g0225 a0002c0002t0010g0226 a0002c0002t0010g0228 a0002c0002t0014g0012 a0002c0002t0014g0071 a0002c0002t0014g0077 a0002c0002t0014g0078 a0002c0002t0014g0079 a0002c0002t0014g0109 a0002c0002t0014g0119 a0002c0002t0016g0029 a0002c0002t0016g0230 a0002c0002t0016g0232 a0002c0002t0016g0233 a0002c0002t0022g0016 a0002c0002t0022g0094 a0002c0002t0022g0106 a0002c0002t0023g0019 a0002c0002t0023g0020 a0002c0002t0023g0115 a0002c0002t0030g0032 a0002c0002t0030g0265 a0002c0002t0032g0016 a0002c0002t0032g0112 a0002c0002t0034g0075 a0002c0002t0034g0086 a0002c0002t0058g0032 a0002c0002t0061g0266 a0002c0002t0066g0118 a0002c0002t0067g0095 a0002c0002t0068g0108 a0002c0002t0069g0004 a0002c0002t0070g0076 a0002c0002t0071g0092 a0002c0002t0073g0231 a0002c0002t0084g0229 a0002c0003t0004g0027 a0002c0003t0004g0028 a0002c0003t0004g0182 a0002c0003t0004g0189 a0002c0003t0004g0191 a0002c0003t0004g0196 a0002c0003t0004g0197 a0002c0003t0004g0198 a0002c0003t0004g0201 a0002c0003t0004g0202 a0002c0003t0004g0203 a0002c0003t0004g0207 a0002c0003t0004g0208 a0002c0003t0004g0209 a0002c0003t0004g0211 a0002c0003t0004g0212 a0002c0003t0004g0213 a0002c0003t0004g0214 a0002c0003t0004g0215 a0002c0003t0004g0216 a0002c0003t0004g0217 a0002c0003t0004g0220 a0002c0003t0004g0221 a0002c0003t0009g0026 a0002c0003t0009g0175 a0002c0003t0009g0176 a0002c0003t0009g0177 a0002c0003t0009g0179 a0002c0003t0009g0180 a0002c0003t0009g0181 a0002c0003t0009g0185 a0002c0003t0009g0195 a0002c0003t0009g0199 a0002c0003t0009g0200 a0002c0003t0010g0183 a0002c0003t0010g0190 a0002c0003t0019g0204 a0002c0003t0019g0205 a0002c0003t0019g0206 a0002c0003t0019g0219 a0002c0003t0020g0006 a0002c0003t0020g0210 a0002c0003t0021g0186 a0002c0003t0021g0187 a0002c0003t0021g0192 a0002c0003t0031g0188 a0002c0003t0031g0194 a0002c0003t0033g0218 a0002c0003t0033g0222 a0002c0003t0059g0026 a0002c0003t0063g0223 a0002c0003t0064g0178 a0002c0003t0065g0193 a0003c0004t0007g0042 a0003c0004t0007g0153 a0003c0004t0007g0156 a0003c0004t0007g0159 a0003c0004t0007g0160 a0003c0004t0007g0162 a0003c0004t0025g0163 a0004c0005t0029g0033 a0004c0005t0060g0268 a0004c0005t0062g0269 a0004c0005t0072g0267 a0005c0007t0010g0227 a0006c0006t0002g0107 a0007c0008t0009g0184	263	408	0.6446	100	c.86 others(111): Show c.8697_*8698insCCACAGCCACTTTTGTGGGCCCACCTGGGCCTCC TCACTCCACTGGCCAGTGAAACCCAACTGGAATTCCTGAGTCCAGAATTC ACATTTGGTTCTAGAA	ZNF736	ENSG00000234444.10	transcript	ENST00000423484.3	protein_coding		1211		chr7	TogoVar
ZNF98_chr19_22386019_22427346	22426345	A A	AATCCCCT others(93): Show AATCCCCTAAGCAACCCCAGGAAGGGTTTTATTTAATCAAGAAAAAAGGA GTCCCACCTCCACTCACACAGGCACTGGTCCTTACATACATTAGAGAACA G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0140 a0003c0004t0001g0140	1	378	0.0027	100	c.-42 others(111): Show c.-4221_-4122dupCTGTTCTCTAATGTATGTAAGGACCAGTGCCTGT GTGAGTGGAGGTGGGACTCCTTTTTTCTTGATTAAATAAAACCCTTCCTG GGGTTGCTTAGGGGAT	ZNF98	ENSG00000197360.9	transcript	ENST00000357774.9	protein_coding		4000		chr19	TogoVar
ZYG11A_chr1_52837760_52899998	52869942	T T	TGGCTGGC others(93): Show TGGCTGGCCGGGCCGGGGGCTGACCCCCCAACACCTCCCTCCCGGACGGG GCTGCTGGCTGGGTGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGG C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02109.hp2 others(8): Show HG01884.hp2 HG02055.hp1 HG02109.hp2 HG02145.hp2 HG02572.hp2 HG02622.hp1 HG02896.hp2 HG02897.hp1 HG03486.hp2 HG03516.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0017 a0001c0001t0020 a0001c0001t0004 a0001c0001t0017 a0001c0001t0020	a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0025 others(8): Show a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0004g0028 a0001c0001t0004g0029 a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0017g0034 a0001c0001t0020g0032	11	290	0.0379	100	c.154 others(119): Show c.1542+2177_1542+2178insCGGGGGCTGACCCCCCAACACCTCCC TCCCGGACGGGGCTGCTGGCTGGGTGGGGGGCTGACCCCCCCACCTCCCT CCTGGACGGGGCGGCTGGCCGGGC	ZYG11A	ENSG00000203995.11	transcript	ENST00000371528.2	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZYG11A_chr1_52837760_52899998	52869966	C C	CCCCCCAA others(93): Show CCCCCCAACACCTCCCTCCCGGACGGGGCTGCTGGCTGGGTGGGGGGCTG ACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	290	0.0035	100	c.154 others(119): Show c.1542+2194_1542+2195insAACACCTCCCTCCCGGACGGGGCTGC TGGCTGGGTGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCT GGCCGGGCGGGGGGCTGATCCCCC	ZYG11A	ENSG00000203995.11	transcript	ENST00000371528.2	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZYG11B_chr1_52721453_52832336	52783838	A A	ATATGTAC others(93): Show ATATGTACATACACGTGTGCGTATGTACATACACGTGTGCGTATGTACAT ACACGTGTGCGTATGTACATACACGTGTGCGTATGTACATACACGTGTGC G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01192.hp1 HG01516.hp2 HG00735.hp2 HG01192.hp1 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0153 a0001c0001t0011g0155 a0001c0001t0011g0156 a0001c0001t0011g0153 a0001c0001t0011g0155 a0001c0001t0011g0156	3	352	0.0085	100	c.109 others(119): Show c.1093-1021_1093-1020insCGTATGTACATACACGTGTGCGTATG TACATACACGTGTGCGTATGTACATACACGTGTGCGTATGTACATACACG TGTGCGTATGTACATACACGTGTG	ZYG11B	ENSG00000162378.13	transcript	ENST00000294353.7	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZYG11B_chr1_52721453_52832336	52783838	A A	ATATGTAC others(93): Show ATATGTACATACACGTGTGCGTATGTACATACACGTGTGCGTATGTACAT ACACGTGTGCGTATGTACATACACGTGTGCGTATGTACATACACGTGTGT G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01175.hp1 HG01109.hp2 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0060 a0001c0001t0058 a0001c0001t0060	a0001c0001t0058g0150 a0001c0001t0060g0154 a0001c0001t0058g0150 a0001c0001t0060g0154	2	352	0.0057	100	c.109 others(119): Show c.1093-1021_1093-1020insCGTATGTACATACACGTGTGCGTATG TACATACACGTGTGCGTATGTACATACACGTGTGCGTATGTACATACACG TGTGTGTATGTACATACACGTGTG	ZYG11B	ENSG00000162378.13	transcript	ENST00000294353.7	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZYG11B_chr1_52721453_52832336	52783909	C C	CATACACG others(93): Show CATACACGTGTGTGTATGTACATACATGTGTGTGTGTATGTACATATACG TGTGTGTATATACATCTATACATATATGTGTATATACATCTATACATGTG T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01261.hp1 HG01433.hp2 others(19): Show HG00639.hp2 HG01261.hp1 HG01433.hp2 HG01993.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02602.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp2 HG02809.hp1 HG02895.hp2 HG03098.hp2 HG03209.hp1 HG03927.hp2 HG06807.hp2 NA18989.hp1 NA19004.hp1 NA19084.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0025 others(5): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0025 a0001c0001t0034 a0001c0001t0037 a0001c0001t0053 a0001c0001t0057 a0001c0001t0070	a0001c0001t0006g0002 a0001c0001t0006g0003 a0001c0001t0006g0178 others(19): Show a0001c0001t0006g0002 a0001c0001t0006g0003 a0001c0001t0006g0178 a0001c0001t0006g0186 a0001c0001t0006g0187 a0001c0001t0006g0262 a0001c0001t0008g0162 a0001c0001t0008g0163 a0001c0001t0008g0164 a0001c0001t0008g0165 a0001c0001t0008g0168 a0001c0001t0008g0174 a0001c0001t0008g0175 a0001c0001t0008g0183 a0001c0001t0025g0189 a0001c0001t0025g0191 a0001c0001t0034g0179 a0001c0001t0034g0182 a0001c0001t0037g0166 a0001c0001t0053g0004 a0001c0001t0057g0172 a0001c0001t0070g0256	22	352	0.0625	100	c.109 others(117): Show c.1093-966_1093-965insACACGTGTGTGTATGTACATACATGTGT GTGTGTATGTACATATACGTGTGTGTATATACATCTATACATATATGTGT ATATACATCTATACATGTGTAT	ZYG11B	ENSG00000162378.13	transcript	ENST00000294353.7	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AATK_chr17_81112295_81171221	81140924	A A	ACCATGGG others(94): Show ACCATGGGGCCGTGAGCCGTGGGGACCGTGAGCCGTGGGGCCGTGGGGAC TGTGAACTGTGGGGCCGTGAGCCGTGGGGCCGTGGGGACCGTGAGCTGTG AG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp1 HG00733.hp2 others(29): Show HG00280.hp1 HG00642.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG01192.hp1 HG01192.hp2 HG01257.hp2 HG01258.hp2 HG01496.hp2 HG02258.hp2 HG02273.hp1 HG02559.hp2 HG02647.hp1 HG02683.hp2 HG02717.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03195.hp2 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 NA18747.hp1 NA18945.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0016 a0018 a0037	a0001c0001 a0001c0011 a0002c0002 others(13): Show a0001c0001 a0001c0011 a0002c0002 a0002c0073 a0003c0003 a0003c0007 a0003c0023 a0003c0044 a0004c0005 a0004c0029 a0004c0035 a0005c0021 a0006c0017 a0016c0026 a0018c0072 a0037c0036	a0001c0001t0001 a0001c0011t0001 a0002c0002t0001 others(15): Show a0001c0001t0001 a0001c0011t0001 a0002c0002t0001 a0002c0073t0007 a0003c0003t0002 a0003c0007t0001 a0003c0007t0019 a0003c0023t0001 a0003c0044t0002 a0004c0005t0001 a0004c0005t0005 a0004c0029t0001 a0004c0035t0001 a0005c0021t0001 a0006c0017t0002 a0016c0026t0001 a0018c0072t0001 a0037c0036t0001	a0001c0001t0001g0005 a0001c0001t0001g0098 a0001c0011t0001g0198 others(26): Show a0001c0001t0001g0005 a0001c0001t0001g0098 a0001c0011t0001g0198 a0002c0002t0001g0128 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0073t0007g0196 a0003c0003t0002g0096 a0003c0003t0002g0197 a0003c0003t0002g0220 a0003c0003t0002g0307 a0003c0007t0001g0190 a0003c0007t0019g0321 a0003c0023t0001g0172 a0003c0023t0001g0202 a0003c0044t0002g0252 a0004c0005t0001g0086 a0004c0005t0001g0180 a0004c0005t0001g0181 a0004c0005t0005g0024 a0004c0029t0001g0021 a0004c0035t0001g0114 a0005c0021t0001g0206 a0005c0021t0001g0337 a0006c0017t0002g0124 a0006c0017t0002g0126 a0016c0026t0001g0011 a0018c0072t0001g0322 a0037c0036t0001g0079	32	368	0.0870	101	c.56- others(116): Show c.56-6424_56-6423insCTCACAGCTCACGGTCCCCACGGCCCCACG GCTCACGGCCCCACAGTTCACAGTCCCCACGGCCCCACGGCTCACGGTCC CCACGGCTCACGGCCCCATGG	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	1/13			chr17	TogoVar
ABCA1_chr9_104776006_104933155	104862701	G G	GGCAGGGC others(94): Show GGCAGGGCAGGGCCGGGCAGGGCCGGGCAGGGCCGGGCCGGCCCCCCACC CCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCC CA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0005 a0005	a0005c0051 a0005c0051	a0005c0051t0019 a0005c0051t0019	a0005c0051t0019g0164 a0005c0051t0019g0164	1	318	0.0031	101	c.422 others(116): Show c.422-902_422-901insTGGGGGTGGGGGTGGGGGTGGGGGTGGGGG TGGGGGTGGGGGTGGGGGTGGGGGTGGGGGGCCGGCCCGGCCCTGCCCGG CCCTGCCCGGCCCTGCCCTGC	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104862701	G G	GGCCGGGC others(94): Show GGCCGGGCCGGCCCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACC CCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCC CA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0212 a0006c0012t0001g0212	1	318	0.0031	101	c.422 others(116): Show c.422-902_422-901insTGGGGGTGGGGGTGGGGGTGGGGGTGGGGG TGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTG GGGGTGGGGGGCCGGCCCGGC	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA7_chr19_1035107_1070572	1049491	C C	CCCCCCCA others(94): Show CCCCCCCACTCCCACCCCGTGAGCTGCCCCCACCACTCCCTCCCCGTGAG CCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCATG AA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0016	1	30	0.0333	101	c.255 others(116): Show c.2552+62_2552+63insTCCCACCCCGTGAGCTGCCCCCACCACTCC CTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACT CCCTCCCCATGAACCCCCCAC	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1049592	G G	GCCCCCCC others(94): Show GCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCACCACTCCCTCCCCGTG AACCCCCCACCACTCCCTCCCCGTGAGGCCCCCACCACTCCCTCCCCGTG AA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0014 a0014	a0014c0019 a0014c0019	a0014c0019t0002 a0014c0019t0002	a0014c0019t0002g0029 a0014c0019t0002g0029	1	30	0.0333	101	c.255 others(118): Show c.2552+161_2552+162insCACCACTCCCTCCCCGTGAGGCCCCCAC CACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGGCCCCCAC CACTCCCTCCCCGTGAACCCCCC	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr19	TogoVar
ABCC4_chr13_95014835_95306451	95244644	A A	AGGAAGGA others(94): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAACGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0007 a0007	a0007c0069 a0007c0069	a0007c0069t0009 a0007c0069t0009	a0007c0069t0009g0043 a0007c0069t0009g0043	1	248	0.0040	101	c.306 others(118): Show c.306+2330_306+2331insCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCGTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCC	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	3/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95244644	A A	AGGAAGGA others(94): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAACGAAGGAAGGAAGGAAGGAAGGA AG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0150 a0001c0010t0001g0150	1	248	0.0040	101	c.306 others(118): Show c.306+2330_306+2331insCTTCCTTCCTTCCTTCCTTCCTTCGTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCC	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	3/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95244652	A A	AGAAAGGA others(94): Show AGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAACGAAGGAACGAAGGAACGAAGGAAGGAAGGAAGGAAGGAAGGA AG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp2 HG03471.hp2 HG02055.hp1 HG02145.hp2 HG03471.hp2	a0002 a0002	a0002c0015 a0002c0020 a0002c0028 a0002c0015 a0002c0020 a0002c0028	a0002c0015t0011 a0002c0020t0004 a0002c0028t0010 a0002c0015t0011 a0002c0020t0004 a0002c0028t0010	a0002c0015t0011g0018 a0002c0020t0004g0016 a0002c0028t0010g0014 a0002c0015t0011g0018 a0002c0020t0004g0016 a0002c0028t0010g0014	3	248	0.0121	101	c.306 others(118): Show c.306+2322_306+2323insCTTCCTTCCTTCCTTCCTTCCTTCCTTC GTTCCTTCGTTCCTTCGTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTTC	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	3/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95244652	A A	AGGAAGGA others(94): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAACGAAGGAAGGAAGGAAGGA AG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0005 a0001c0026t0005	a0001c0026t0005g0133 a0001c0026t0005g0133	1	248	0.0040	101	c.306 others(118): Show c.306+2322_306+2323insCTTCCTTCCTTCCTTCCTTCGTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCC	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	3/30			chr13	TogoVar
ABCC6_chr16_16144565_16228494	16171923	G G	GATGGATA others(94): Show GATGGATAAATGGGTGGGTGGGATGGATAAATGAGTTGGTGGGAGGGATG GATAAATGAGTAGGTGGGATGGATGGATAAATGAATGGGTGGGTGGGTGG GA	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA19000.hp2 HG00597.hp1 NA19000.hp2	a0001 a0021 a0001 a0021	a0001c0006 a0021c0079 a0001c0006 a0021c0079	a0001c0006t0001 a0021c0079t0001 a0001c0006t0001 a0021c0079t0001	a0001c0006t0001g0329 a0021c0079t0001g0238 a0001c0006t0001g0329 a0021c0079t0001g0238	2	357	0.0056	101	c.278 others(120): Show c.2787+1360_2787+1361insTCCCACCCACCCACCCATTCATTTAT CCATCCATCCCACCTACTCATTTATCCATCCCTCCCACCAACTCATTTAT CCATCCCACCCACCCATTTATCCAT	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ABHD13_chr13_108213392_108239243	108215427	C C	CCTCCCAA others(94): Show CCTCCCAACCCCCCACCCCCCCCGCCCCCACCTCCCAACCCCCCACCCCC CCGCCCCCACCTCCCAACCCCCCACCCCCCCCGCCCCCACCTCCCAACCC CT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0008 a0001c0001t0006g0008	1	390	0.0026	101	c.-32 others(112): Show c.-3253_-3252insCTCCCAACCCCCCACCCCCCCCGCCCCCACCTCC CAACCCCCCACCCCCCCGCCCCCACCTCCCAACCCCCCACCCCCCCCGCC CCCACCTCCCAACCCCT	ABHD13	ENSG00000139826.6	transcript	ENST00000375898.4	protein_coding		2964		chr13	TogoVar
ABHD5_chr3_43685938_43727725	43700732	C C	CCCAGCTA others(94): Show CCCAGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGG GA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03927.hp1 NA18967.hp2 others(1): Show HG03490.hp1 HG03927.hp1 NA18967.hp2 NA18982.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0018 a0001c0002t0038 a0001c0002t0005 a0001c0002t0018 a0001c0002t0038	a0001c0002t0005g0153 a0001c0002t0005g0158 a0001c0002t0018g0159 others(1): Show a0001c0002t0005g0153 a0001c0002t0005g0158 a0001c0002t0018g0159 a0001c0002t0038g0160	4	286	0.0140	101	c.133 others(118): Show c.133+1384_133+1385insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC AGTGGCGGGACCAGCTAATTTTT	ABHD5	ENSG00000011198.10	transcript	ENST00000644371.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
ABR_chr17_998519_1184981	1163490	G G	GCCCCAGA others(94): Show GCCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGCATCC AGGTGGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGACGCAGG GA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0279 a0001c0001t0005g0279	1	337	0.0030	101	c.61+ others(118): Show c.61+16076_61+16176dupTCCCTGCGTCTGGATTCAGTGCTGTGTG TGACACTTTGCCAGGGTCCCACCTGGATGCTCCGACATCCATGTTCACTG GGCGTCTTGCAGTTTATCTGGGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACAP3_chr1_1287391_1312930	1289847	G G	GTCTCTGC others(94): Show GTCTCTGCTCCATTCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCA TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCATTCCCCGTGTCTCT GC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	295	0.0034	101	c.37 others(112): Show c.3716_*3717insGCAGAGACACGGGGAATGGAGCAGAGACACGGGA CGGAGCAGAGACACGGGATGGAGCAGAGACACGGGACGGAGCAGAGACAC GGGGAATGGAGCAGAGA	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2543		chr1	TogoVar
ACR_chr22_50733204_50750339	50748737	C C	CCGAGGGG others(94): Show CCGAGGGGTGTGCCCACCTAGACAATCTGAGGGGTGTGCCCACCTAGACA TCCGAGGGGTGTGCCCACCTAGACAACCGAGGGGTGTGCCCACCTGGACA AT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	464	0.0022	101	c.35 others(112): Show c.3530_*3531insCGAGGGGTGTGCCCACCTAGACAATCTGAGGGGT GTGCCCACCTAGACATCCGAGGGGTGTGCCCACCTAGACAACCGAGGGGT GTGCCCACCTGGACAAT	ACR	ENSG00000100312.11	transcript	ENST00000216139.10	protein_coding		3399		chr22	TogoVar
ACSM2B_chr16_20531226_20581367	20566645	C C	CTATATAT others(94): Show CTATATATACTATATATATACTATATATACTATATATACTATATATAGTA TATATAGTATATACTATATATACTATATATAGTATATATAGTATATACTA TA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	388	0.0026	101	c.-8- others(116): Show c.-8-1793_-8-1792insTATAGTATATACTATATATACTATATATAG TATATATAGTATATACTATATATACTATATATAGTATATATAGTATATAT AGTATATATATAGTATATATA	ACSM2B	ENSG00000066813.14	transcript	ENST00000329697.10	protein_coding	1/13			chr16	TogoVar
ADAMTS2_chr5_179105853_179350461	179135028	A A	AGCTCCAG others(94): Show AGCTCCAGCCCCCAGCTCCGAGCCTCTAGCCCCCAGCTCCCGGCTGCAGC CCCCAGCTCCCGGCTCCAGCCCCCAGCTCCCGGCTCCAGCTCCCAGCTCC CG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02976.hp2 HG02818.hp1 HG02976.hp2	a0003 a0019 a0003 a0019	a0003c0108 a0019c0084 a0003c0108 a0019c0084	a0003c0108t0008 a0019c0084t0008 a0003c0108t0008 a0019c0084t0008	a0003c0108t0008g0207 a0019c0084t0008g0198 a0003c0108t0008g0207 a0019c0084t0008g0198	2	276	0.0073	101	c.208 others(118): Show c.2085+880_2085+881insCGGGAGCTGGGAGCTGGAGCCGGGAGCT GGGGGCTGGAGCCGGGAGCTGGGGGCTGCAGCCGGGAGCTGGGGGCTAGA GGCTCGGAGCTGGGGGCTGGAGC	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	13/21			chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179135037	C C	CCCCAGCT others(94): Show CCCCAGCTCCGAGCCTCTAGCCCCCAGCTCCCGGCTCCAGCCCCCAGCTC CCGGCTCCAGCTCCCAGCTCCCGGCTCCAGCCCCCAGCTCCCGGCTCCAG CT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0029 a0002c0007t0002g0029	1	276	0.0036	101	c.208 others(118): Show c.2085+871_2085+872insAGCTGGAGCCGGGAGCTGGGGGCTGGAG CCGGGAGCTGGGAGCTGGAGCCGGGAGCTGGGGGCTGGAGCCGGGAGCTG GGGGCTAGAGGCTCGGAGCTGGG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	13/21			chr5	TogoVar
ADAMTS3_chr4_72275969_72574221	72400561	A A	ACGTGTGC others(94): Show ACGTGTGCATATACACACGGTGTGTATATATACGTGTGCATAGATATACA CACGGTGTGTATATATACGTGTGCATAGATATACACACGGTGTGTATATA TC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02886.hp2 HG02622.hp2 HG02886.hp2	a0001 a0003 a0001 a0003	a0001c0012 a0003c0007 a0001c0012 a0003c0007	a0001c0012t0001 a0003c0007t0012 a0001c0012t0001 a0003c0007t0012	a0001c0012t0001g0080 a0003c0007t0012g0003 a0001c0012t0001g0080 a0003c0007t0012g0003	2	182	0.0110	101	c.661 others(120): Show c.661+14253_661+14254insGATATATACACACCGTGTGTATATCT ATGCACACGTATATATACACACCGTGTGTATATCTATGCACACGTATATA TACACACCGTGTGTATATGCACACG	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	4/21			chr4	TogoVar
ADAP1_chr7_892900_959680	906503	G G	GGAGAAAG others(94): Show GGAGAAAGGAGAAAGGAGAAAGGAGAAAGGAGAAGGAGAAAGGAGAAAGG AGAAAGGAGAAAGGAGAAAGGGAAAGGAGAAAGGAGAAAGGGAAAGGAGA AA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	14	0.0714	101	c.389 others(118): Show c.389-1332_389-1331insTTTCTCCTTTCCCTTTCTCCTTTCTCCT TTCCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTCTCCTTTC TCCTTTCTCCTTTCTCCTTTCTC	ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	4/10			chr7	TogoVar
ADAP1_chr7_892900_959680	924446	C C	CAGGTCCA others(94): Show CAGGTCCATGCTGCACCCCCTCCCCGCCCTCCAGGTCCACACTGCACCCC CTGCCCTCCAGGTTACACAGCGGGTCCACGCTGCACCCCTCCCCCACCCT CG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	14	0.0714	101	c.305 others(118): Show c.305+2106_305+2107insCGAGGGTGGGGGAGGGGTGCAGCGTGGA CCCGCTGTGTAACCTGGAGGGCAGGGGGTGCAGTGTGGACCTGGAGGGCG GGGAGGGGGTGCAGCATGGACCT	ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	3/10			chr7	TogoVar
ADARB2_chr10_1172313_1742525	1576120	A A	AGGGGGCC others(94): Show AGGGGGCCCAGGGTCACGGGAGGGGGCTCAGAGTCACAGGAGGGGGCCCA GGGTCACGGGAGGGGCATCAGGGTCACAGGAGGGGGCCCAGGGTCACAGG AG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0066 a0002c0002t0002g0066	1	106	0.0094	101	c.100 others(122): Show c.100+160930_100+160931insCTCCTGTGACCCTGGGCCCCCTCC TGTGACCCTGATGCCCCTCCCGTGACCCTGGGCCCCCTCCTGTGACTCTG AGCCCCCTCCCGTGACCCTGGGCCCCC	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADGRB3_chr6_68630282_69394506	69031550	T T	TTTCTTTC others(94): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC TCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0052 a0001c0002t0002g0052	1	120	0.0083	101	c.210 others(122): Show c.2107+13053_2107+13054insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTT	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	13/31		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRB3_chr6_68630282_69394506	69031550	T T	TTTCTTTC others(94): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTT TC	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0069 a0001c0002t0002g0069	1	120	0.0083	101	c.210 others(122): Show c.2107+13053_2107+13054insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCT CTTTCTTTCTTTCTTTCTTTCTTTCTT	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	13/31		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRG6_chr6_142297007_142451261	142318279	A A	ATATATAT others(94): Show ATATATATTTATATATTATATATATTTATATTATATATTTATATATTATA TATATTTATATTATATATTTATATTATATATTTATATATTATATATTTAT AT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0062 a0001c0001t0011g0062	1	260	0.0039	101	c.103 others(118): Show c.103+8708_103+8709insTATATATTTATATATTATATATTTATAT TATATATTTATATATTATATATATTTATATTATATATTTATATATTATAT ATATTTATATTATATATTTATAT	ADGRG6	ENSG00000112414.15	transcript	ENST00000367609.8	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRL3_chr4_61195326_62083335	61847874	A A	AAAATATA others(94): Show AAAATATATTATATATATAATATAAAATATATTATATATATAATATAAAA TATATTATATATATAATATAAAATATATTATATATATAATATAAAATATA TT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	58	0.0172	101	c.148 others(122): Show c.1480+33985_1480+33986insAAATATATTATATATATAATATAA AATATATTATATATATAATATAAAATATATTATATATATAATATAAAATA TATTATATATATAATATAAAATATATT	ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	9/26			chr4	TogoVar
AHNAK2_chr14_104932253_104983374	104933898	G G	GCTGAGGG others(94): Show GCTGAGGGGACAGGGAGGGCGGGAGGGGACCCGCGGCTGAGTGAGGGGAG GGTGGGAGGGGACCCGCGGCTGAGGGGACAGGGAGGGCGGGAGGGGACCC GC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 NA19030.hp2 HG00639.hp1 NA19030.hp2	a0100 a0101 a0100 a0101	a0100c0062 a0101c0063 a0100c0062 a0101c0063	a0100c0062t0002 a0101c0063t0002 a0100c0062t0002 a0101c0063t0002	a0100c0062t0002g0154 a0101c0063t0002g0155 a0100c0062t0002g0154 a0101c0063t0002g0155	2	356	0.0056	101	c.41 others(112): Show c.4164_*4165insGCGGGTCCCCTCCCGCCCTCCCTGTCCCCTCAGC CGCGGGTCCCCTCCCACCCTCCCCTCACTCAGCCGCGGGTCCCCTCCCGC CCTCCCTGTCCCCTCAG	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding		3354		chr14	TogoVar
AHRR_chr5_316714_443285	324005	C C	CCCTTTCC others(94): Show CCCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTC TT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0035 a0007c0007t0035	a0007c0007t0035g0222 a0007c0007t0035g0222	1	268	0.0037	101	c.-11 others(118): Show c.-11+2186_-11+2187insCCTTTCCTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTTCTTTCTTTCTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10			chr5	TogoVar
AKAP13_chr15_85375603_85754355	85613713	T T	TATATATA others(94): Show TATATATATATGTATGTATATATATATATATATATGTGTGTGTATATATA TGTATACATATATATATGTGTGTGTATATATATGTATATATATATATATA TA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0043 a0043	a0043c0069 a0043c0069	a0043c0069t0002 a0043c0069t0002	a0043c0069t0002g0253 a0043c0069t0002g0253	1	314	0.0032	101	c.416 others(122): Show c.4162-25661_4162-25660insATATATATATGTATGTATATATAT ATATATATATGTGTGTGTATATATATGTATACATATATATATGTGTGTGT ATATATATGTATATATATATATATATA	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	8/36			chr15	TogoVar
AKAP13_chr15_85375603_85754355	85613713	T T	TATATATA others(94): Show TATATATATGTATGTATATATATATATATATATATGTGTGTGTATATATA TGTATACATATATATATGTGTGTGTATATATATGTATATATATATATATA TA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG04115.hp1 NA18944.hp2 others(5): Show HG02015.hp2 HG04115.hp1 NA18944.hp2 NA18971.hp1 NA18994.hp1 NA19003.hp2 NA19064.hp2 NA19081.hp2	a0002 a0039 a0002 a0039	a0002c0001 a0039c0061 a0002c0001 a0039c0061	a0002c0001t0002 a0002c0001t0007 a0002c0001t0045 others(1): Show a0002c0001t0002 a0002c0001t0007 a0002c0001t0045 a0039c0061t0002	a0002c0001t0002g0185 a0002c0001t0002g0186 a0002c0001t0002g0188 others(5): Show a0002c0001t0002g0185 a0002c0001t0002g0186 a0002c0001t0002g0188 a0002c0001t0002g0192 a0002c0001t0002g0238 a0002c0001t0007g0176 a0002c0001t0045g0190 a0039c0061t0002g0255	8	314	0.0255	101	c.416 others(122): Show c.4162-25661_4162-25660insATATATATGTATGTATATATATAT ATATATATATGTGTGTGTATATATATGTATACATATATATATGTGTGTGT ATATATATGTATATATATATATATATA	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	8/36			chr15	TogoVar

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Search Results (Total: 10000 hits)