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
ZNF723_chr19_22827291_22863667	22862367	ATGTAATA others(160): Show ATGTAATATAATATATATATTATATATATGTAATATAATATATATGTAAT ATAATATATATATTATATATATGTAATATAATATATATATTATATATATG TAATATAATATATATATTATATATATGTAATATAATATATATATTATATA TGTAATATAATATATAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02895.hp1 HG02897.hp2 others(4): Show HG02723.hp1 HG02895.hp1 HG02897.hp2 HG02976.hp1 HG03130.hp2 HG03540.hp2 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0010 a0002c0002t0002g0043 a0002c0002t0002g0044 others(1): Show a0002c0002t0002g0010 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0055	7	364	0.0192	-167	c.39 others(11): Show c.3935_*4101del	ZNF723	ENSG00000268696.3	transcript	ENST00000600766.3	protein_coding		3701		chr19	TogoVar
ZSCAN5A_chr19_56216303_56319839	56306311	GTACTAAG others(160): Show GTACTAAGGACAGATGGGAGATTTCTCTTCCCTTGATAGCTACAAAGAGG CTCCTCCCTGGCCTCTCCCACGTCGCCAGAGAAAGTACTAAGGACAGATG GGAGACTTCTCTTCCCTCGGTATCTGCAAAGAGGGTCCCCCCCGGCCTCT CCCCTGTTGCCAGAGAAA	G G	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	362	0.0028	-167	c.-12 others(19): Show c.-128+6805_-128+6971del	ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5			chr19	TogoVar
ACAP3_chr1_1287391_1312930	1288226	TCTCTGCT others(159): Show TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCC GTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCC TGCTCCGTCCCGTGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 NA18999.hp2 HG02155.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0001t0002 a0001c0003t0002	a0001c0001t0002g0025 a0001c0003t0002g0010 a0001c0001t0002g0025 a0001c0003t0002g0010	2	295	0.0068	-166	c.51 others(11): Show c.5172_*5337del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4164		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288276	CCCGAGTC others(159): Show CCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCC GTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCC TGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTG TCCCTGCTCCGTCCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0156 a0001c0001t0005g0156	1	295	0.0034	-166	c.51 others(11): Show c.5122_*5287del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4114		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288299	GTCTGCTC others(159): Show GTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	295	0.0034	-166	c.50 others(11): Show c.5099_*5264del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4091		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288589	CCGTGTCT others(159): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	295	0.0034	-166	c.48 others(11): Show c.4809_*4974del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3801		chr1	TogoVar
ADARB2_chr10_1172313_1742525	1237901	TCTCCCTC others(159): Show TCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTC TGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCCT GCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGC CTCCCGGTGTTTACTCC	T T	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0090 a0003c0006t0003g0090	1	106	0.0094	-166	c.136 others(19): Show c.1361+4064_1362-4057del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1238775	CCCCTCTC others(159): Show CCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCC CCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCC TCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTCC CTCCCTCTGGCGATACT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0030 a0001c0001t0017g0030	1	106	0.0094	-166	c.136 others(19): Show c.1361+3190_1361+3355del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1239430	CCCTCTGC others(159): Show CCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCC CTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCT CTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCT CCCTCCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0058 a0002c0002t0008g0058	1	106	0.0094	-166	c.136 others(19): Show c.1361+2535_1361+2700del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1541610	AGACCCTG others(159): Show AGACCCTGGATCCGTCCAGACCCCACTCAGACGCAGTTCGGACCCTGGAT CACAGCCGCCCAGACCCCACTCAGACGCAGTTCAGACCCTGGATCCGTCC AGACCCCACTCAGACGTAGTTCAGACCCTGGATCACAGCCGTCCAGACCC CACTCAGACGCAGTTCG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	106	0.0094	-166	c.101 others(21): Show c.101-162616_101-162451del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADH4_chr4_99118658_99149297	99149131	TGAAAAGA others(159): Show TGAAAAGACCCCTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(333): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010	a0001c0001 a0002c0002 a0002c0003 others(8): Show a0001c0001 a0002c0002 a0002c0003 a0003c0004 a0004c0005 a0005c0010 a0006c0008 a0007c0007 a0008c0009 a0009c0006 a0010c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0002c0002t0002 a0002c0003t0003 a0003c0004t0001 a0004c0005t0001 a0005c0010t0003 a0006c0008t0001 a0007c0007t0001 a0008c0009t0001 a0009c0006t0001 a0010c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(92): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0003g0008 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0056 a0001c0001t0004g0093 a0001c0001t0005g0091 a0001c0001t0006g0051 a0002c0002t0002g0007 a0002c0002t0002g0010 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0095 a0002c0003t0003g0013 a0002c0003t0003g0021 a0003c0004t0001g0015 a0004c0005t0001g0027 a0005c0010t0003g0057 a0006c0008t0001g0081 a0007c0007t0001g0080 a0008c0009t0001g0069 a0009c0006t0001g0094 a0010c0011t0001g0054	336	338	0.9941	-166	c.-50 others(11): Show c.-5075_-4910del	ADH4	ENSG00000198099.10	transcript	ENST00000265512.12	protein_coding		4835		chr4	TogoVar
ASAP1_chr8_130047104_130448674	130049318	AGGGGAAC others(159): Show AGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGAGAACA CATGGGGGGCAGAGGGGAACACATGGGGGGCAGAGGGGAACACATGGGGG GCAGAGGAGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAG AACACATGGGGGCAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	308	0.0033	-166	c.52 others(11): Show c.5247_*5412del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2785		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049352	GGGGCAGA others(159): Show GGGGCAGAGGAGAACACATGGGGGGCAGAGGGGAACACATGGGGGGCAGA GGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATAC ATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGGAACACATGGGGGC AGAGGGGAACACATGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 NA18998.hp1 HG02257.hp2 NA18998.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0013 a0002c0002t0003g0283 a0001c0001t0001g0013 a0002c0002t0003g0283	2	308	0.0065	-166	c.52 others(11): Show c.5213_*5378del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2751		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050049	TACATGGG others(159): Show TACATGGGGGGCAGAGGAGAACACATGGAGGGCAGAGGAGAACACATGGG GGGCAGAGGAGAACACATGGGGGGCAGAGGGGAACACATGGGGGCAGAGG GGAATACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATACAT GGGGGGCAGAGGAGAAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0010	a0002c0003t0010g0018 a0002c0003t0010g0018	1	308	0.0033	-166	c.45 others(11): Show c.4516_*4681del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2054		chr8	TogoVar
ATP11A_chr13_112685038_112892168	112803981	CCCCTCAT others(159): Show CCCCTCATTCCCCTCCTTCCCTCCTTCACCTCCCTCCCTGCCATCCCCTC TCTGCCCTCCTTCCCTCCTTTTCCTCCTTCCCTCCTTCACCTCCCTCCCC CCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCACCTCCCTC CCCCCATCCCCTCTCTG	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0012 a0012	a0012c0043 a0012c0043	a0012c0043t0001 a0012c0043t0001	a0012c0043t0001g0069 a0012c0043t0001g0069	1	254	0.0039	-166	c.163 others(15): Show c.163-970_163-805del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
C7orf50_chr7_992006_1143247	1116311	CGGACAGG others(159): Show CGGACAGGCTTCCATCACCAACGCCCATGCAGGATGATGACATCACTACA GCTCTAGGGACAGCTTCCATCACCGACGCCCACGCAGGATGATGACATGA CTGCAGCTCTACGGACCGGCTTCCATCACCGACGTCCACGCAGGATGATG ACATCACTGCAGTTCTA	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0005 a0006c0006t0005	a0006c0006t0005g0296 a0006c0006t0005g0296	1	326	0.0031	-166	c.129 others(19): Show c.129+10780_129+10945del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CAPZB_chr1_19333775_19490539	19434933	ACAGAACA others(159): Show ACAGAACAAGGGGCCTGATAATCAAGTCAGTCAAAAAGTTTTTTTTTTCC TTTCTGTCTCAAAGGAAAAAAAAAAACACACTCATTATAATATGGAATTA AACATATACACGCACACTCTCACTTATGTAAGTTAACATTCCCTAAAGGC ATGAGAGTGGGTAGCCC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(75): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00544.hp1 HG00558.hp2 HG00621.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01346.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02148.hp1 HG02257.hp2 HG02258.hp1 HG02300.hp1 HG02717.hp2 HG02735.hp2 HG03098.hp2 HG03239.hp1 HG03471.hp2 HG03490.hp1 HG03669.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04199.hp2 NA18522.hp2 NA18612.hp1 NA18939.hp2 NA18940.hp2 NA18942.hp1 NA18946.hp1 NA18948.hp2 NA18950.hp2 NA18953.hp2 NA18956.hp1 NA18960.hp1 NA18969.hp2 NA18971.hp2 NA18975.hp1 NA18983.hp1 NA18986.hp2 NA18989.hp1 NA18995.hp1 NA18998.hp2 NA18999.hp2 NA19002.hp2 NA19004.hp1 NA19007.hp1 NA19009.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA19067.hp2 NA19068.hp1 NA19077.hp2 NA19079.hp2 NA19081.hp2 NA19083.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp2 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 a0001c0001t0017 a0001c0002t0002	a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0030 others(75): Show a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0130 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0201 a0001c0001t0001g0207 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0285 a0001c0001t0001g0292 a0001c0001t0001g0305 a0001c0001t0001g0360 a0001c0001t0001g0363 a0001c0001t0002g0045 a0001c0001t0002g0054 a0001c0001t0002g0064 a0001c0001t0002g0093 a0001c0001t0002g0107 a0001c0001t0002g0142 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0214 a0001c0001t0002g0241 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0284 a0001c0001t0002g0286 a0001c0001t0002g0310 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0321 a0001c0001t0002g0326 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0341 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0003g0011 a0001c0001t0003g0032 a0001c0001t0003g0055 a0001c0001t0003g0091 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0109 a0001c0001t0003g0132 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0350 a0001c0001t0004g0046 a0001c0001t0004g0108 a0001c0001t0004g0147 a0001c0001t0004g0160 a0001c0001t0004g0221 a0001c0001t0004g0238 a0001c0001t0004g0257 a0001c0001t0004g0320 a0001c0001t0004g0323 a0001c0001t0004g0333 a0001c0001t0004g0335 a0001c0001t0004g0346 a0001c0001t0015g0328 a0001c0001t0017g0186 a0001c0002t0002g0342	78	364	0.2143	-166	c.4-1 others(15): Show c.4-15349_4-15184del	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	1/8			chr1	TogoVar
CDH12_chr5_21745673_22858344	22314953	TTTTTTTT others(159): Show TTTTTTTTTTTTTTTTTTTGAGATGGAGTATCCCTCTGTCACCCAGGCTG GAGTGCAGTGGCGCGATCTAGGCTCACTGCAAGCTCCGCCTCCCAGGTTC ATGCCATTCTCCTGCCTCCTGCCTCAGTAGCCAGGACTACAGGCGCCTGC CACCGTGCCTGCCTGGC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03486.hp1 HG03579.hp2 HG02809.hp2 HG03486.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0013 a0001c0002t0015 a0001c0001t0001 a0001c0001t0013 a0001c0002t0015	a0001c0001t0001g0050 a0001c0001t0013g0049 a0001c0002t0015g0032 a0001c0001t0001g0050 a0001c0001t0013g0049 a0001c0002t0015g0032	3	60	0.0500	-166	c.-33 others(21): Show c.-333+90138_-333+90303del	CDH12	ENSG00000154162.15	transcript	ENST00000382254.6	protein_coding	3/14			chr5	TogoVar
CENPE_chr4_103100811_103203343	103112718	ATATAAGT others(159): Show ATATAAGTGTATATATATACTTATAAGTATATAAGTGTATATATATACTT ATAAGTATATAAGTGTATATATATACTTATAAGTATATAAGTGTATATAT ATACTTATAAGTATATAAGTGTATATATATACTTATAAGTATATAAGTGT ACATATATACTTATAAG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02258.hp1 HG02615.hp1 others(1): Show HG01243.hp2 HG02258.hp1 HG02615.hp1 NA20129.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0295 a0006c0008t0001g0296 a0006c0008t0001g0297 others(1): Show a0006c0008t0001g0295 a0006c0008t0001g0296 a0006c0008t0001g0297 a0006c0008t0001g0298	4	320	0.0125	-166	c.754 others(19): Show c.7540+1571_7541-1708del	CENPE	ENSG00000138778.14	transcript	ENST00000265148.9	protein_coding	46/48			chr4	TogoVar
CLSTN2_chr3_139930185_140582397	140419623	ATATATGT others(159): Show ATATATGTATATATACATATATATGTACACGTATATATACATATATGAAT ATGTATATACGTATATATACGTATATGAATATGTATATATGTATATATAC GTATATACATGTATATACGTATATATACACATATACGTGTATACACGTGT ATACACGTATATACACG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02965.hp1 HG03041.hp1 HG02109.hp1 HG02965.hp1 HG03041.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0015 a0002c0005 a0001c0001 a0001c0015 a0002c0005	a0001c0001t0001 a0001c0015t0001 a0002c0005t0001 a0001c0001t0001 a0001c0015t0001 a0002c0005t0001	a0001c0001t0001g0093 a0001c0015t0001g0021 a0002c0005t0001g0034 a0001c0001t0001g0093 a0001c0015t0001g0021 a0002c0005t0001g0034	3	110	0.0273	-166	c.638 others(17): Show c.638-1497_638-1332del	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CYP4F12_chr19_15668087_15702174	15676707	TCACTCAA others(159): Show TCACTCAACTCATTCCTCACTCACTCATTCCTCTCCTCACTCACTCATTC CCCTCCTCACTCACTCATTTCTCTCCTCACTCATTCATTCCTTTACCCAC TCACTCATTCCTCTACCCACTCACTCATTCCTCTCCTCACTCATTCCCTT CCTCCCATTCCTTTACC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(238): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01515.hp2 HG01517.hp2 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02135.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18978.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0007 a0008 a0010 a0011 a0017	a0001c0001 a0001c0008 a0001c0011 others(7): Show a0001c0001 a0001c0008 a0001c0011 a0002c0002 a0003c0003 a0007c0009 a0008c0010 a0010c0024 a0011c0023 a0017c0017	a0001c0001t0001 a0001c0001t0006 a0001c0008t0002 others(10): Show a0001c0001t0001 a0001c0001t0006 a0001c0008t0002 a0001c0011t0001 a0002c0002t0001 a0003c0003t0002 a0003c0003t0004 a0003c0003t0005 a0007c0009t0001 a0008c0010t0001 a0010c0024t0002 a0011c0023t0002 a0017c0017t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(135): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0006g0002 a0001c0001t0006g0037 a0001c0008t0002g0083 a0001c0008t0002g0086 a0001c0008t0002g0111 a0001c0011t0001g0030 a0002c0002t0001g0009 a0002c0002t0001g0059 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0113 a0002c0002t0001g0120 a0002c0002t0001g0127 a0002c0002t0001g0128 a0003c0003t0002g0011 a0003c0003t0002g0016 a0003c0003t0002g0029 a0003c0003t0002g0042 a0003c0003t0002g0043 a0003c0003t0002g0044 a0003c0003t0002g0045 a0003c0003t0002g0046 a0003c0003t0002g0130 a0003c0003t0002g0131 a0003c0003t0002g0169 a0003c0003t0002g0170 a0003c0003t0002g0171 a0003c0003t0002g0172 a0003c0003t0002g0173 a0003c0003t0002g0174 a0003c0003t0002g0176 a0003c0003t0002g0180 a0003c0003t0002g0181 a0003c0003t0002g0182 a0003c0003t0002g0183 a0003c0003t0002g0184 a0003c0003t0002g0185 a0003c0003t0002g0186 a0003c0003t0002g0187 a0003c0003t0002g0188 a0003c0003t0002g0189 a0003c0003t0002g0190 a0003c0003t0002g0191 a0003c0003t0002g0195 a0003c0003t0004g0177 a0003c0003t0005g0047 a0003c0003t0005g0192 a0003c0003t0005g0193 a0007c0009t0001g0007 a0007c0009t0001g0092 a0008c0010t0001g0036 a0010c0024t0002g0179 a0011c0023t0002g0029 a0017c0017t0001g0002	241	410	0.5878	-166	c.199 others(17): Show c.199-1547_199-1382del	CYP4F12	ENSG00000186204.15	transcript	ENST00000550308.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYTH1_chr17_78669048_78787273	78760379	ATATATAC others(159): Show ATATATACACACACATACATATATATATGTGTATATATATATATATACAC ATACATATATATATGTATATATATATACATACATATATATATGTATATAT ATGTATGTATATATATATACATATATATGTATATATATGTATATATATAT ATACATACATATATATG	A A	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0031 a0001c0001t0005g0031	1	378	0.0027	-166	c.22+ others(17): Show c.22+21657_22+21822del	CYTH1	ENSG00000108669.18	transcript	ENST00000446868.8	protein_coding	1/13			chr17	TogoVar
DGKB_chr7_14140049_14907751	14411639	ATCTTTCA others(159): Show ATCTTTCAAGGTGGCTGTAAGATAAACAGTATAATACACACATCTTAACA CATTTTCTGACAATGATAACTGTTCTTCAGACAAAAACTTCTATCCTAAT AGTTTCTCATCTTTCTCCCCTACCTCTTTCTTTTTTTTCTGGAAATAATT ATAGATACAAAGAAAGC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp1 HG00558.hp2 others(94): Show HG00280.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01515.hp1 HG01515.hp2 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04204.hp2 HG06807.hp1 NA18612.hp2 NA18951.hp2 NA18960.hp1 NA18960.hp2 NA18968.hp1 NA18968.hp2 NA18984.hp1 NA18988.hp2 NA18993.hp1 NA18993.hp2 NA19030.hp1 NA19030.hp2 NA19057.hp2 NA19062.hp2 NA19081.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0012 a0001c0013 a0001c0014 a0001c0017 a0002c0005 a0002c0007 a0003c0010 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(50): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 a0001c0001t0020 a0001c0001t0023 a0001c0001t0025 a0001c0001t0039 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0012 a0001c0002t0013 a0001c0002t0022 a0001c0002t0029 a0001c0002t0030 a0001c0002t0031 a0001c0002t0038 a0001c0002t0042 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0008 a0001c0003t0010 a0001c0003t0013 a0001c0003t0014 a0001c0003t0015 a0001c0003t0035 a0001c0003t0037 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0005 a0001c0004t0026 a0001c0004t0027 a0001c0006t0004 a0001c0006t0008 a0001c0008t0003 a0001c0012t0003 a0001c0013t0017 a0001c0014t0001 a0001c0017t0024 a0002c0005t0011 a0002c0007t0006 a0003c0010t0033 a0004c0011t0002	a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0034 others(94): Show a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0091 a0001c0001t0001g0098 a0001c0001t0001g0140 a0001c0001t0002g0025 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0099 a0001c0001t0002g0109 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0143 a0001c0001t0003g0051 a0001c0001t0004g0142 a0001c0001t0007g0037 a0001c0001t0007g0121 a0001c0001t0007g0132 a0001c0001t0008g0123 a0001c0001t0016g0042 a0001c0001t0020g0097 a0001c0001t0023g0122 a0001c0001t0025g0021 a0001c0001t0039g0022 a0001c0002t0001g0017 a0001c0002t0001g0070 a0001c0002t0002g0020 a0001c0002t0002g0065 a0001c0002t0002g0102 a0001c0002t0002g0107 a0001c0002t0002g0128 a0001c0002t0003g0003 a0001c0002t0003g0010 a0001c0002t0003g0027 a0001c0002t0003g0055 a0001c0002t0003g0058 a0001c0002t0003g0069 a0001c0002t0003g0081 a0001c0002t0004g0088 a0001c0002t0012g0046 a0001c0002t0012g0120 a0001c0002t0013g0104 a0001c0002t0022g0013 a0001c0002t0029g0002 a0001c0002t0030g0092 a0001c0002t0031g0008 a0001c0002t0038g0093 a0001c0002t0042g0148 a0001c0003t0001g0087 a0001c0003t0001g0136 a0001c0003t0002g0028 a0001c0003t0002g0063 a0001c0003t0002g0116 a0001c0003t0003g0056 a0001c0003t0004g0009 a0001c0003t0004g0012 a0001c0003t0005g0073 a0001c0003t0005g0124 a0001c0003t0008g0011 a0001c0003t0010g0089 a0001c0003t0013g0066 a0001c0003t0014g0075 a0001c0003t0014g0076 a0001c0003t0015g0086 a0001c0003t0035g0126 a0001c0003t0037g0005 a0001c0004t0001g0026 a0001c0004t0001g0035 a0001c0004t0001g0040 a0001c0004t0001g0071 a0001c0004t0001g0085 a0001c0004t0001g0103 a0001c0004t0001g0108 a0001c0004t0002g0112 a0001c0004t0002g0115 a0001c0004t0002g0131 a0001c0004t0003g0067 a0001c0004t0004g0113 a0001c0004t0004g0118 a0001c0004t0005g0023 a0001c0004t0026g0138 a0001c0004t0027g0059 a0001c0006t0004g0145 a0001c0006t0008g0080 a0001c0008t0003g0077 a0001c0008t0003g0078 a0001c0012t0003g0015 a0001c0013t0017g0084 a0001c0014t0001g0018 a0001c0017t0024g0146 a0002c0005t0011g0079 a0002c0007t0006g0041 a0003c0010t0033g0007 a0004c0011t0002g0110	97	148	0.6554	-166	c.183 others(21): Show c.1835+66356_1836-66249del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	21/25			chr7	TogoVar
EIF3H_chr8_116637130_116760823	116680021	GTCCGGGA others(159): Show GTCCGGGAGGGAGGCGGGGGGGGGGTCGGCCAGCCGCCCTGTCCAGGAGG GAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCTGGGAGGT GAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTG CCTGGCCAGCCGCCCCT	G G	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0017 a0001c0001t0003g0017	1	336	0.0030	-166	c.290 others(19): Show c.290-21207_290-21042del	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	2/7			chr8	TogoVar
ERICH1_chr8_659200_736224	675237	CGGCGAGG others(159): Show CGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGG CCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGC GGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGA GACGCGGCGCCCCCTCG	C C	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	378	0.0027	-166	c.305 others(17): Show c.305-1356_305-1191del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	695533	TCCTCTCG others(159): Show TCCTCTCGCCCTCCACTCCTCTCCTTCCTCCCCATCAGCCTGCGCCTGTG CTGGCTCCTCTCGCCCTCCACTCCTCTCCTTCCTCCCCATCAGCCTGCAC CTGTGCTTGCTCCTCTCGCCCTCCACTCCTCTCCTTCCTCCCCATCAGCC TGCACCTGTGCTTGCTC	T T	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	378	0.0027	-166	c.170 others(17): Show c.170-3087_170-2922del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ESYT2_chr7_158725997_158834509	158729292	GGGGGAAG others(159): Show GGGGGAAGAGCAAGCGTGGAGGTGTTGGGAGAAGCAAGTGTGGATGTGCA AGCGTGGAGGTGGGGGGCTTGGCGCAAGCGTGGAGGTGCTGGGGGGAGGA GCAAGGTGGAGGTTGGGACTGGAGCAAATGTGGAGGTGCTGGGGGGAGGA GCAGGTGTGGAGATAGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 NA19240.hp1 HG03540.hp1 NA19240.hp1	a0001 a0001	a0001c0007 a0001c0019 a0001c0007 a0001c0019	a0001c0007t0036 a0001c0019t0032 a0001c0007t0036 a0001c0019t0032	a0001c0007t0036g0032 a0001c0019t0032g0222 a0001c0007t0036g0032 a0001c0019t0032g0222	2	370	0.0054	-166	c.47 others(11): Show c.4749_*4914del	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding		1704		chr7	TogoVar
FAM161A_chr2_61819848_61859060	61848929	TATATATA others(159): Show TATATATATATTTATATATATTTATATATATATTTATATATATATATATT TATATATTTATATATATTTATATATATATTTATATATTTATATATATTTA TATATATATTTATATATTTATATATATTTATATATATATAAATATATATA TTTATATATATATTTAA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02630.hp2 HG03540.hp1 HG02145.hp2 HG02630.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	3	400	0.0075	-166	c.183 others(17): Show c.183+4764_183+4929del	FAM161A	ENSG00000170264.13	transcript	ENST00000404929.6	protein_coding	1/6			chr2	TogoVar
FSTL5_chr4_161378897_162169000	161460346	GTCATTTA others(159): Show GTCATTTACATTAGGTGTATCTCCTAATGCTATCCCTCCCCCCTCCCCCC ACCTCACAACAGGCCCGGGTGTGTGATGTTCCCCACCCCGTGTCCAAGTG TTCTCATTGTTCAATTCCCACCTATGAGTGAGGGATGAAGCTAGAAACCA TCATCCTTAGAGAATTT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp2 HG00621.hp2 others(35): Show HG00140.hp2 HG00438.hp2 HG00621.hp2 HG00642.hp1 HG01069.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01346.hp1 HG01952.hp2 HG02074.hp2 HG02155.hp2 HG02165.hp2 HG02293.hp1 HG02293.hp2 HG02559.hp2 HG02818.hp2 HG03017.hp2 HG03130.hp2 HG03239.hp1 HG03471.hp2 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18945.hp1 NA18948.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp2 NA19002.hp2 NA19060.hp1 NA19065.hp1 NA19079.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010 a0001c0012 a0002c0004 a0003c0005 a0003c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0022 a0001c0002t0001 a0001c0002t0003 a0001c0002t0008 a0001c0002t0016 a0001c0002t0017 a0001c0002t0018 a0001c0002t0021 a0001c0003t0001 a0001c0010t0002 a0001c0012t0001 a0002c0004t0003 a0003c0005t0005 a0003c0014t0005	a0001c0001t0001g0037 a0001c0001t0001g0048 a0001c0001t0001g0064 others(35): Show a0001c0001t0001g0037 a0001c0001t0001g0048 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0086 a0001c0001t0002g0007 a0001c0001t0002g0012 a0001c0001t0003g0104 a0001c0001t0003g0108 a0001c0001t0004g0126 a0001c0001t0004g0130 a0001c0001t0006g0137 a0001c0001t0007g0059 a0001c0001t0011g0006 a0001c0001t0022g0138 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0031 a0001c0002t0001g0060 a0001c0002t0001g0062 a0001c0002t0001g0068 a0001c0002t0003g0113 a0001c0002t0008g0103 a0001c0002t0008g0106 a0001c0002t0008g0120 a0001c0002t0016g0135 a0001c0002t0016g0136 a0001c0002t0017g0080 a0001c0002t0018g0088 a0001c0002t0021g0134 a0001c0003t0001g0100 a0001c0010t0002g0011 a0001c0012t0001g0071 a0002c0004t0003g0107 a0003c0005t0005g0051 a0003c0005t0005g0078 a0003c0014t0005g0065	38	142	0.2676	-166	c.160 others(19): Show c.1609-1193_1609-1028del	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	13/15			chr4	TogoVar
FZR1_chr19_3501311_3543334	3530281	GATGGGAG others(159): Show GATGGGAGAGCGCAGGGGAGAGCGGAGGAGAGAGCGGAGGAGAGTGGTTG AGGGAGTGGATGGTTGAGCAGAAGGGAGAGCGGATGGGAGAGCGGATGGG TGAGCAGATGGGTGAGCGGATGGGAGAGCGCATGGGAGAGCGCATGGGAG AGCGGATGGGAGAGCGC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02280.hp2 HG02717.hp2 others(5): Show HG02145.hp2 HG02280.hp2 HG02717.hp2 HG02895.hp1 HG02970.hp1 HG03098.hp2 HG03471.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0020 a0001c0001t0032 a0001c0001t0010 a0001c0001t0020 a0001c0001t0032	a0001c0001t0010g0046 a0001c0001t0010g0047 a0001c0001t0010g0053 others(5): Show a0001c0001t0010g0046 a0001c0001t0010g0047 a0001c0001t0010g0053 a0001c0001t0010g0054 a0001c0001t0010g0055 a0001c0001t0020g0040 a0001c0001t0020g0237 a0001c0001t0032g0052	8	314	0.0255	-166	c.655 others(15): Show c.655-497_655-332del	FZR1	ENSG00000105325.15	transcript	ENST00000441788.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
GCC2_chr2_108444206_108514415	108514086	GTGCCGGA others(159): Show GTGCCGGATTCTAGTAAGAGTTACCTTTTGGTAAGAGCACTGCTTGTTAA CTATAGTTGATTGCTTTAGATGTCTAGTGTGTACACAAAAGCATGAATTT TATTCCTTATAACCAAAGTAGAAACCTACTCTGAGCAATTTGACAAAAGG TTTACATTATTTATTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0020 a0005c0010t0020	a0005c0010t0020g0159 a0005c0010t0020g0159	1	276	0.0036	-166	c.64 others(11): Show c.6457_*6622del	GCC2	ENSG00000135968.22	transcript	ENST00000309863.11	protein_coding		4672		chr2	TogoVar
GGT5_chr22_24214660_24250082	24238767	ATATATAT others(159): Show ATATATATATATAATATATATTATATATTTATATATATATAATATATTAT ATATATATATATATATTTATATATATATATTATATATATTATATATATAA TATATATAATATATATTATATATTTTATATATATATATATTATATATATT ATATATATAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01952.hp2 others(2): Show HG01070.hp2 HG01071.hp1 HG01952.hp2 HG02148.hp2 HG02293.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0218 a0001c0003t0001g0219 a0001c0003t0001g0220 others(2): Show a0001c0003t0001g0218 a0001c0003t0001g0219 a0001c0003t0001g0220 a0001c0003t0001g0255 a0001c0003t0001g0256	5	420	0.0119	-166	c.174 others(17): Show c.174-4929_174-4764del	GGT5	ENSG00000099998.19	transcript	ENST00000327365.10	protein_coding	1/11			chr22	TogoVar
GLB1L3_chr11_134271379_134324564	134308214	CCATCACC others(159): Show CCATCACCATCACCACCACCACCATCACCATCACCACCATCACCACCACC ACCACCACCACCACCACCAAATACCACCACCACCACCACCACCACCACTA CCACCACCATCACCATCACCATCACCATCATCACCATCACCACTACCACC ACCACCACCACCACCAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02818.hp1 HG02922.hp2 others(2): Show HG02055.hp2 HG02818.hp1 HG02922.hp2 HG03453.hp1 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0019 a0001c0002t0001g0161 a0001c0002t0001g0163 others(1): Show a0001c0002t0001g0019 a0001c0002t0001g0161 a0001c0002t0001g0163 a0001c0002t0002g0369	5	422	0.0119	-166	c.961 others(17): Show c.961+1009_961+1174del	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
HACL1_chr3_15555699_15606569	15592852	ACGCACAT others(159): Show ACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATAC ACATGTACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGT GTATACACATGTACGCACATGTGTGCGTGTATACACATGTACGCACATGT GTGCGTGTATACACATG	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02080.hp2 HG02738.hp2 others(8): Show HG01069.hp1 HG02080.hp2 HG02738.hp2 HG02818.hp2 HG02970.hp1 HG03098.hp2 HG03491.hp1 HG03492.hp1 NA18966.hp2 NA20129.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 a0001c0004t0001	a0001c0001t0001g0051 a0001c0001t0001g0091 a0001c0001t0001g0105 others(8): Show a0001c0001t0001g0051 a0001c0001t0001g0091 a0001c0001t0001g0105 a0001c0001t0001g0139 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0168 a0001c0001t0001g0391 a0001c0003t0001g0046 a0001c0003t0003g0055 a0001c0004t0001g0162	11	428	0.0257	-166	c.228 others(17): Show c.228-1338_228-1173del	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16			chr3	TogoVar
HS3ST5_chr6_114050596_114348023	114326009	ACAAGGAA others(159): Show ACAAGGAACTACCCCTTATTTAAATTGCAATGCAATAATTTACTTTCTCA CCTGACTCCTTGAAGCCAGAGGACTGTGTTTTATCTCTATTAAAAAAGTA GGCCCACTGGGCCTGGTGGCTCATGCCTATAATCCTTTGGGAGGGTGAAC TGGGTGGGTCACCTGAG	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0203 a0001c0001t0002g0203	1	206	0.0049	-166	c.-33 others(21): Show c.-339+16020_-339+16185del	HS3ST5	ENSG00000249853.9	transcript	ENST00000312719.10	protein_coding	1/4			chr6	TogoVar
ITGB3BP_chr1_63435770_63528225	63473800	GGTCAGCC others(159): Show GGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGC CACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	374	0.0027	-166	c.254 others(17): Show c.254+4798_254+4963del	ITGB3BP	ENSG00000142856.17	transcript	ENST00000271002.15	protein_coding	4/8			chr1	TogoVar
KIRREL3_chr11_126418358_127005770	126450333	GCGTGGGC others(159): Show GCGTGGGCATGTGTGTCCATGTGCATGTGTGCATGTGTGAGTGTGCATGT GTGAGTGTGGGTATGTGTGAGTGTGTGCATGTGTGAGTGGGCATGTATGT GTCCATGTGTATGTGCGCATCTGTGAGTGTGTGAATGTGTGCATGTGTGT GGGTGTGAGTGTGTGCA	G G	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0034 a0001c0001t0008g0034	1	114	0.0088	-166	c.849 others(17): Show c.849-1342_849-1177del	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	7/16			chr11	TogoVar
KNDC1_chr10_133155219_133231412	133223020	TGTGTGTG others(159): Show TGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTG TGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGAGAG CCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGAGAGCCCATCCA GGCATGCTCTTCCCGGC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02109.hp2 HG02572.hp2 others(1): Show HG00735.hp2 HG02109.hp2 HG02572.hp2 NA18906.hp2	a0001 a0003 a0020 a0001 a0003 a0020	a0001c0001 a0003c0015 a0003c0049 others(1): Show a0001c0001 a0003c0015 a0003c0049 a0020c0055	a0001c0001t0002 a0003c0015t0002 a0003c0049t0002 others(1): Show a0001c0001t0002 a0003c0015t0002 a0003c0049t0002 a0020c0055t0002	a0001c0001t0002g0247 a0003c0015t0002g0238 a0003c0049t0002g0023 others(1): Show a0001c0001t0002g0247 a0003c0015t0002g0238 a0003c0049t0002g0023 a0020c0055t0002g0241	4	332	0.0121	-166	c.501 others(19): Show c.5019-1627_5019-1462del	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRBA_chr4_150259435_151020284	150658528	CCTCTCCC others(159): Show CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TGCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0002 a0006c0008t0002	a0006c0008t0002g0116 a0006c0008t0002g0116	1	180	0.0056	-166	c.592 others(21): Show c.5921+24857_5921+25022del	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	37/56			chr4	TogoVar
MAPK8IP2_chr22_50595793_50618978	50608299	CCAGCTCT others(159): Show CCAGCTCTGGGGTGGAGAGGTGGGACAGCGGGCAGGGGCGCAGACCAGAC AGCGGGGCCAGCTCTGGGGTGGAAAGGTGGGACAGTGGGCAGGGGCGCAG ACCAGACAGTGGGGCCAGCTCTGGGGTCACCAGGACAGCGAACGGGGCGC AGACCAGACAGCAGGGA	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01069.hp1 HG01071.hp1 others(6): Show HG00733.hp1 HG01069.hp1 HG01071.hp1 HG01099.hp1 HG03209.hp1 HG03491.hp1 HG03492.hp1 NA18974.hp2 NA19059.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0010 others(1): Show a0001c0001 a0001c0002 a0001c0010 a0004c0014	a0001c0001t0001 a0001c0002t0025 a0001c0010t0013 others(1): Show a0001c0001t0001 a0001c0002t0025 a0001c0010t0013 a0004c0014t0001	a0001c0001t0001g0019 a0001c0002t0025g0098 a0001c0010t0013g0031 others(1): Show a0001c0001t0001g0019 a0001c0002t0025g0098 a0001c0010t0013g0031 a0004c0014t0001g0034	9	436	0.0206	-166	c.230 others(19): Show c.2303+1381_2303+1546del	MAPK8IP2	ENSG00000008735.14	transcript	ENST00000329492.6	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
MAPK8IP2_chr22_50595793_50618978	50608556	GGGGCGCA others(159): Show GGGGCGCAGACCAGACAGTGGGGCCAGCTCTGGGGTCACCGGGACAGCGA ACGGGGCGCAGACCAGACAGCAGGGACAGCTCTGGGGTGGAGAGGTGGGA CAGCGGGCAGGGGCGCAGACCAGACAGCAGGGACAGCTCTGGGGTGGAGA GGTGGGACAGTGGGCAC	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0009 a0001c0010t0009	a0001c0010t0009g0045 a0001c0010t0009g0045	1	436	0.0023	-166	c.230 others(19): Show c.2304-1607_2304-1442del	MAPK8IP2	ENSG00000008735.14	transcript	ENST00000329492.6	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
MIER2_chr19_300573_349796	349131	AAAAAAAA others(159): Show AAAAAAAAACTTAGTCTATTCGTGCTGCTGTAATAAAGCACCACGGATGA GGTAGTTTATATATACATATTTTAAGAACACATTTATTTATCACAGTTCT GGAGGCTGGAAAGCCTTGATCAAGGCGCCGGCAGTTTTGGTGTCTGGTGA GAGCCTGGTCTCTGCTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	384	0.0026	-166	c.-45 others(11): Show c.-4515_-4350del	MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding		4336		chr19	TogoVar
MLPH_chr2_237482251_237560322	237544484	TGGGGGGG others(159): Show TGGGGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGGGACAG TTGTTGAGTTGGGGGACACTTTAGTGTTGGGGGGGACATTGTTTATTGGG GGCATAGTGGTGTGTGGTTGTCAGTGTGTGGTGGTGGTCAGTGGTGATTG GGCACTGTAGTGAGTGG	T T	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02451.hp1 HG02572.hp1 others(3): Show HG02074.hp1 HG02451.hp1 HG02572.hp1 HG02622.hp1 HG02647.hp1 NA18522.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0003c0003 a0004c0005 a0002c0002 a0003c0003 a0004c0005	a0002c0002t0002 a0003c0003t0001 a0004c0005t0004 a0002c0002t0002 a0003c0003t0001 a0004c0005t0004	a0002c0002t0002g0095 a0003c0003t0001g0106 a0003c0003t0001g0107 others(3): Show a0002c0002t0002g0095 a0003c0003t0001g0106 a0003c0003t0001g0107 a0003c0003t0001g0108 a0003c0003t0001g0239 a0004c0005t0004g0187	6	286	0.0210	-166	c.153 others(19): Show c.1539+1830_1540-1952del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYOCD_chr17_12660890_12773949	12700576	GCTAATTT others(159): Show GCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATTTTGGCCA GAATGGTCTCGATCTCCTGACCTCGTGATCCACCCGTCTGGGCCTCCCAA AGTGCTGGGATTACAGGCTTGAGGCAGTGGGAGATTTTTATAAACTTCGT CTTCATTTGATTAAGAT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02486.hp1 HG02055.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0040 a0001c0006t0093 a0001c0001t0040 a0001c0006t0093	a0001c0001t0040g0256 a0001c0006t0093g0294 a0001c0001t0040g0256 a0001c0006t0093g0294	2	346	0.0058	-166	c.56- others(15): Show c.56-4548_56-4383del	MYOCD	ENSG00000141052.18	transcript	ENST00000425538.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
MYOM2_chr8_2040046_2150456	2085955	CTTTGTGG others(159): Show CTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTG ATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGT CGTGATCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCA CTGTTGTGATCTCTTTG	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01496.hp1 HG01891.hp1 others(7): Show HG01069.hp1 HG01496.hp1 HG01891.hp1 HG02572.hp2 HG02717.hp2 HG03195.hp2 HG03225.hp2 NA18953.hp1 NA19068.hp1 NA19082.hp2	a0001 a0008 a0010 others(2): Show a0001 a0008 a0010 a0030 a0034	a0001c0002 a0001c0022 a0001c0023 others(6): Show a0001c0002 a0001c0022 a0001c0023 a0001c0024 a0001c0038 a0008c0008 a0010c0199 a0030c0054 a0034c0127	a0001c0002t0001 a0001c0002t0003 a0001c0022t0001 others(7): Show a0001c0002t0001 a0001c0002t0003 a0001c0022t0001 a0001c0023t0001 a0001c0024t0002 a0001c0038t0001 a0008c0008t0001 a0010c0199t0001 a0030c0054t0001 a0034c0127t0001	a0001c0002t0001g0097 a0001c0002t0003g0096 a0001c0022t0001g0396 others(7): Show a0001c0002t0001g0097 a0001c0002t0003g0096 a0001c0022t0001g0396 a0001c0023t0001g0137 a0001c0024t0002g0332 a0001c0038t0001g0077 a0008c0008t0001g0177 a0010c0199t0001g0094 a0030c0054t0001g0005 a0034c0127t0001g0398	10	403	0.0248	-166	c.164 others(17): Show c.1644+567_1644+732del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086009	CTTTGTGG others(159): Show CTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTG ATCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCACTGT TGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCA CTGTTGTGATCTCTGCG	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0001 a0002c0017t0001	a0002c0017t0001g0071 a0002c0017t0001g0071	1	403	0.0025	-166	c.164 others(17): Show c.1644+621_1644+786del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYRIP_chr3_39804609_40265321	40091167	CTGCTGGG others(159): Show CTGCTGGGATTATCCCCAGCTGAGCCACTGAAGGGGTCAACTATTAACTG AGAGGGTAGAGTAGAAGAGGGTCTGGCTATGAGAGTGAGACCCACATTTT GGGTTTCCTGGCCAGATGCTTCACCTTAGTAAAACCTTTCCTTCTAGTAC TAGCCACTGACCTGTTA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01168.hp2 HG01192.hp1 others(29): Show HG00735.hp1 HG01168.hp2 HG01192.hp1 HG01256.hp2 HG02027.hp2 HG02040.hp1 HG02109.hp1 HG02559.hp1 HG02615.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp2 HG03130.hp2 HG04115.hp2 NA18612.hp2 NA18906.hp1 NA18946.hp1 NA18947.hp1 NA18950.hp2 NA18964.hp1 NA18970.hp1 NA18986.hp2 NA18990.hp2 NA19030.hp2 NA19043.hp1 NA19065.hp1 NA19081.hp1 NA19082.hp1 NA19085.hp1 NA20300.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0002 a0001c0006 others(5): Show a0001c0001 a0001c0002 a0001c0006 a0002c0012 a0003c0003 a0003c0007 a0004c0009 a0006c0016	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0015 a0001c0001t0017 a0001c0002t0002 a0001c0006t0006 a0002c0012t0006 a0003c0003t0002 a0003c0007t0001 a0004c0009t0005 a0006c0016t0008	a0001c0001t0001g0010 a0001c0001t0001g0024 a0001c0001t0001g0050 others(29): Show a0001c0001t0001g0010 a0001c0001t0001g0024 a0001c0001t0001g0050 a0001c0001t0001g0074 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0164 a0001c0001t0003g0119 a0001c0001t0005g0137 a0001c0001t0015g0029 a0001c0001t0017g0097 a0001c0002t0002g0075 a0001c0002t0002g0099 a0001c0006t0006g0084 a0001c0006t0006g0085 a0002c0012t0006g0087 a0002c0012t0006g0091 a0002c0012t0006g0092 a0003c0003t0002g0012 a0003c0003t0002g0013 a0003c0007t0001g0064 a0003c0007t0001g0073 a0003c0007t0001g0130 a0004c0009t0005g0101 a0006c0016t0008g0139	32	170	0.1882	-166	c.332 others(19): Show c.332+46979_332+47144del	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
NKD2_chr5_1003802_1043943	1025825	TAGTGGGC others(159): Show TAGTGGGCATCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCG TCCCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCCCAGCCC ATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCATTGTCCCT GCTCTTCCCACCCGCTA	T T	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0017 a0009c0013t0017	a0009c0013t0017g0098 a0009c0013t0017g0098	1	319	0.0031	-166	c.142 others(17): Show c.142-6326_142-6161del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9			chr5	TogoVar
NLRP8_chr19_55942832_55993629	55993448	CTCCCCCC others(159): Show CTCCCCCCTCTCTCCCCCCTCTCTCCCCCCTCCCTCCCCCTCTCCCCCCT CCCCTCCTCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCTCTCCCCTCCTCTCCTCCCCCCTCCTC CTCTCAACCTCCCCTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG04204.hp2 HG03491.hp2 HG04204.hp2	a0000 a0000	a0000c0014 a0000c0014	a0000c0014t0001 a0000c0014t0004 a0000c0014t0001 a0000c0014t0004	a0000c0014t0001g0005 a0000c0014t0004g0204 a0000c0014t0001g0005 a0000c0014t0004g0204	2	350	0.0057	-166	c.55 others(11): Show c.5536_*5701del	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4820		chr19	TogoVar
NPRL3_chr16_80386_143673	131340	GTGGTGGT others(159): Show GTGGTGGTGGGTGCCTGTAGTCCCAGCTACTCTGGAGGGTGAGGCAAGAG AATGGTGTGAACCCGGGAAGCAGAGCTTGCAGTGAGCCAAGATCGCGCCA CTGTACTCCAGCCTGGGAGACACGGCAAGACTCCGTCTCAAAAAAAAAAA AAAAAATTAGCCGGGCA	G G	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02258.hp2 HG02451.hp1 others(25): Show HG02148.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02717.hp2 HG02809.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03225.hp1 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp2 NA18906.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0007 a0009	a0001c0001 a0002c0003 a0003c0004 others(3): Show a0001c0001 a0002c0003 a0003c0004 a0005c0007 a0007c0012 a0009c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0014 a0001c0001t0016 a0002c0003t0009 a0002c0003t0022 a0003c0004t0002 a0005c0007t0002 a0007c0012t0002 a0009c0009t0002	a0001c0001t0001g0289 a0001c0001t0002g0131 a0001c0001t0002g0137 others(25): Show a0001c0001t0001g0289 a0001c0001t0002g0131 a0001c0001t0002g0137 a0001c0001t0002g0140 a0001c0001t0002g0147 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0328 a0001c0001t0003g0136 a0001c0001t0003g0138 a0001c0001t0007g0139 a0001c0001t0007g0144 a0001c0001t0007g0145 a0001c0001t0007g0146 a0001c0001t0014g0135 a0001c0001t0016g0142 a0002c0003t0009g0344 a0002c0003t0009g0345 a0002c0003t0009g0346 a0002c0003t0022g0347 a0003c0004t0002g0141 a0003c0004t0002g0143 a0005c0007t0002g0150 a0005c0007t0002g0155 a0007c0012t0002g0148 a0009c0009t0002g0133	28	350	0.0800	-166	c.119 others(15): Show c.119-915_119-750del	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding	2/13			chr16	TogoVar

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Search Results (Total: 10000 hits)