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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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
CHGB_chr20_5906510_5930353	5926076	TATATATA others(19): Show TATATATATATATATATATATATATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG02155.hp1 NA19083.hp2 HG00323.hp2 HG02155.hp1 NA19083.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0002	a0006c0006t0002g0008 a0006c0006t0002g0088 a0006c0006t0002g0008 a0006c0006t0002g0088	3	440	0.0068	-26	c.10 others(37): Show c.1028_*1053delATATATATATATATATATATATATAC	CHGB	ENSG00000089199.10	transcript	ENST00000378961.9	protein_coding		724		chr20	TogoVar
CHL1_chr3_191763_414417	252361	GATATATA others(19): Show GATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03486.hp2 HG02055.hp2 HG03486.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0006 a0003c0003t0002 a0002c0002t0006 a0003c0003t0002	a0002c0002t0006g0231 a0003c0003t0002g0096 a0002c0002t0006g0231 a0003c0003t0002g0096	2	290	0.0069	-26	c.-95 others(43): Show c.-95+7684_-95+7709delATATATATATATATATATATATATAT	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHM_chrX_85856180_86052558	85913334	AAGAAAGA others(19): Show AAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01517.hp2 HG02056.hp1 others(3): Show HG00597.hp1 HG01517.hp2 HG02056.hp1 NA18953.hp1 NA18957.hp1 NA18999.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0041 a0001c0002t0002g0043 a0001c0002t0002g0050 others(3): Show a0001c0002t0002g0041 a0001c0002t0002g0043 a0001c0002t0002g0050 a0001c0002t0002g0054 a0001c0002t0002g0059 a0001c0002t0002g0060	6	245	0.0245	-26	c.116 others(45): Show c.1167-2022_1167-1997delCTTTCTTTCTTTCTTTCTTTCTTTCT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHN2_chr7_29189775_29519328	29273326	CATATATA others(19): Show CATATATATATATATGTGTATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	232	0.0043	-26	c.49+ others(43): Show c.49+78351_49+78376delGTGTATATATATATATATATATATAT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29273343	GTATATAT others(19): Show GTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00673.hp2 HG02040.hp2 others(18): Show HG00639.hp2 HG00673.hp2 HG02040.hp2 HG02074.hp2 HG02602.hp1 HG02735.hp2 HG04184.hp1 NA18942.hp1 NA18948.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp2 NA18986.hp1 NA18991.hp2 NA19000.hp2 NA19005.hp2 NA19060.hp1 NA19060.hp2 NA19074.hp1 NA19079.hp2 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0008 others(2): Show a0001c0001 a0001c0002 a0001c0008 a0002c0003 a0002c0004	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 others(8): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0002t0002 a0001c0002t0004 a0001c0008t0011 a0002c0003t0004 a0002c0004t0001 a0002c0004t0007	a0001c0001t0003g0087 a0001c0001t0003g0108 a0001c0001t0003g0109 others(18): Show a0001c0001t0003g0087 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0005g0006 a0001c0001t0006g0037 a0001c0001t0007g0003 a0001c0001t0009g0090 a0001c0001t0009g0091 a0001c0001t0009g0158 a0001c0001t0009g0232 a0001c0002t0002g0007 a0001c0002t0002g0105 a0001c0002t0004g0095 a0001c0002t0004g0118 a0001c0002t0004g0132 a0001c0002t0004g0216 a0001c0008t0011g0230 a0002c0003t0004g0071 a0002c0003t0004g0072 a0002c0004t0001g0038 a0002c0004t0007g0094	21	232	0.0905	-26	c.49+ others(43): Show c.49+78374_49+78399delTATATATATATATATATATATATATA	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29273364	TATATATA others(19): Show TATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG00597.hp1 others(42): Show HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00673.hp1 HG01081.hp2 HG01168.hp2 HG01192.hp1 HG01257.hp1 HG01257.hp2 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG02040.hp1 HG02071.hp2 HG02080.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02602.hp2 HG02723.hp1 HG03041.hp1 HG03195.hp2 HG03239.hp1 HG03491.hp1 HG03579.hp1 HG03704.hp2 HG03831.hp1 HG04228.hp1 NA18612.hp1 NA18971.hp2 NA18972.hp1 NA18986.hp2 NA19000.hp1 NA19012.hp1 NA19063.hp1 NA19082.hp2 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(15): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0019 a0001c0001t0024 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0010 a0001c0002t0027 a0001c0005t0007 a0002c0003t0004 a0002c0004t0001 a0002c0004t0005	a0001c0001t0001g0224 a0001c0001t0005g0018 a0001c0001t0005g0028 others(42): Show a0001c0001t0001g0224 a0001c0001t0005g0018 a0001c0001t0005g0028 a0001c0001t0005g0156 a0001c0001t0005g0193 a0001c0001t0006g0066 a0001c0001t0006g0145 a0001c0001t0006g0147 a0001c0001t0007g0075 a0001c0001t0007g0116 a0001c0001t0007g0123 a0001c0001t0007g0205 a0001c0001t0007g0212 a0001c0001t0007g0222 a0001c0001t0007g0223 a0001c0001t0008g0065 a0001c0001t0008g0131 a0001c0001t0008g0176 a0001c0001t0008g0178 a0001c0001t0008g0228 a0001c0001t0009g0017 a0001c0001t0012g0040 a0001c0001t0012g0170 a0001c0001t0019g0115 a0001c0001t0024g0080 a0001c0002t0001g0063 a0001c0002t0002g0041 a0001c0002t0002g0081 a0001c0002t0002g0219 a0001c0002t0004g0004 a0001c0002t0004g0042 a0001c0002t0004g0088 a0001c0002t0004g0199 a0001c0002t0010g0061 a0001c0002t0010g0062 a0001c0002t0010g0155 a0001c0002t0027g0060 a0001c0005t0007g0092 a0002c0003t0004g0021 a0002c0003t0004g0101 a0002c0003t0004g0146 a0002c0003t0004g0203 a0002c0004t0001g0059 a0002c0004t0005g0175 a0002c0004t0005g0202	45	232	0.1940	-26	c.49+ others(43): Show c.49+78376_49+78401delTATATATATATATATATATATATACA	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29405164	TACACACA others(19): Show TACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG03486.hp2 HG01175.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0002 a0001c0001t0006 a0001c0002t0002	a0001c0001t0006g0039 a0001c0002t0002g0077 a0001c0001t0006g0039 a0001c0002t0002g0077	2	232	0.0086	-26	c.576 others(43): Show c.576+4369_576+4394delACACACACACACACACACACACACAC	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHP1_chr15_41226268_41286887	41229407	GGAGGTTG others(19): Show GGAGGTTGCAGTGAGCCGAAAATGCAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0193 a0001c0001t0026g0193	1	298	0.0034	-26	c.-19 others(37): Show c.-1975_-1950delGAGGTTGCAGTGAGCCGAAAATGCAC	CHP1	ENSG00000187446.12	transcript	ENST00000334660.10	protein_coding		1860		chr15	TogoVar
CHRDL1_chrX_110668856_110800817	110669054	ATATATAT others(19): Show ATATATATATATATTTATATATATATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02622.hp1 HG03130.hp1 others(4): Show HG02615.hp1 HG02622.hp1 HG03130.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0007 a0001c0002t0011 a0001c0002t0003 a0001c0002t0007 a0001c0002t0011	a0001c0002t0003g0001 a0001c0002t0003g0004 a0001c0002t0003g0022 others(3): Show a0001c0002t0003g0001 a0001c0002t0003g0004 a0001c0002t0003g0022 a0001c0002t0007g0017 a0001c0002t0007g0165 a0001c0002t0011g0009	7	172	0.0407	-26	c.71 others(37): Show c.7151_*7176delAATATATATATAAATATATATATATA	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding		4801		chrX	TogoVar
CHRDL1_chrX_110668856_110800817	110669068	TTATATAT others(19): Show TTATATATATATTTATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG02572.hp1 others(6): Show HG01109.hp1 HG01243.hp1 HG02572.hp1 HG02615.hp2 HG03195.hp2 HG03516.hp2 HG03540.hp2 NA18522.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0012 a0001c0002t0008 a0001c0002t0012 others(3): Show a0001c0001t0012 a0001c0002t0008 a0001c0002t0012 a0001c0002t0022 a0001c0002t0023 a0001c0006t0008	a0001c0001t0012g0131 a0001c0002t0008g0010 a0001c0002t0008g0014 others(6): Show a0001c0001t0012g0131 a0001c0002t0008g0010 a0001c0002t0008g0014 a0001c0002t0008g0111 a0001c0002t0012g0011 a0001c0002t0012g0015 a0001c0002t0022g0028 a0001c0002t0023g0013 a0001c0006t0008g0006	9	172	0.0523	-26	c.71 others(37): Show c.7137_*7162delTATATATATATATAAATATATATATA	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding		4787		chrX	TogoVar
CHRDL1_chrX_110668856_110800817	110669080	TTATATAT others(19): Show TTATATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02809.hp2 HG02897.hp1 others(1): Show HG02622.hp2 HG02809.hp2 HG02897.hp1 HG03041.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0041 a0002c0003t0043 a0002c0003t0045 others(1): Show a0002c0003t0041 a0002c0003t0043 a0002c0003t0045 a0002c0003t0047	a0002c0003t0041g0024 a0002c0003t0043g0016 a0002c0003t0045g0008 others(1): Show a0002c0003t0041g0024 a0002c0003t0043g0016 a0002c0003t0045g0008 a0002c0003t0047g0127	4	172	0.0233	-26	c.71 others(37): Show c.7125_*7150delTATATATATATATATATATATATATA	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding		4775		chrX	TogoVar
CHRDL1_chrX_110668856_110800817	110697814	CCACACAC others(19): Show CCACACACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02630.hp2 HG02895.hp1 others(4): Show HG01106.hp1 HG02630.hp2 HG02895.hp1 HG02897.hp2 HG03471.hp1 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007	a0001c0002t0003g0035 a0001c0002t0003g0036 a0001c0002t0003g0037 others(4): Show a0001c0002t0003g0035 a0001c0002t0003g0036 a0001c0002t0003g0037 a0001c0002t0003g0078 a0001c0002t0003g0171 a0001c0002t0004g0038 a0001c0002t0007g0165	7	172	0.0407	-26	c.609 others(43): Show c.609+2814_609+2839delTGTGTGTGTGTGTGTGTGTGTGTGTG	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	7/11			chrX	TogoVar
CHRM2_chr7_136863652_137025213	136867623	TTTTTGAG others(19): Show TTTTTGAGAGAGATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 homoSapiens_chm13v2.hp1 HG02451.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0078 a0001c0001t0004g0079 a0001c0001t0004g0078 a0001c0001t0004g0079	2	320	0.0063	-26	c.-16 others(37): Show c.-1651_-1626delTTTTGAGAGAGATATATATATATATA	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding		1028		chr7	TogoVar
CHRM2_chr7_136863652_137025213	136938915	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01978.hp1 HG02809.hp1 others(7): Show HG00639.hp1 HG01978.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp2 HG03098.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 a0001c0001t0031 a0001c0001t0055 a0004c0009t0028	a0001c0001t0001g0312 a0001c0001t0005g0127 a0001c0001t0011g0002 others(6): Show a0001c0001t0001g0312 a0001c0001t0005g0127 a0001c0001t0011g0002 a0001c0001t0011g0209 a0001c0001t0011g0210 a0001c0001t0011g0211 a0001c0001t0031g0096 a0001c0001t0055g0261 a0004c0009t0028g0303	10	320	0.0313	-26	c.-12 others(47): Show c.-124-53249_-124-53224delAAAAAAAAAAAAAAAAAAAAAAAA AA	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM2_chr7_136863652_137025213	137003473	TACACACA others(19): Show TACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0045 a0001c0001t0021g0045	1	320	0.0031	-26	c.-47 others(45): Show c.-47+11248_-47+11273delACACACACACACACACACACACACAC	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM3_chr1_239381568_239920450	239552214	TTATATAT others(19): Show TTATATATGTATAGATGATATGTATCA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00639.hp1 HG00738.hp2 others(27): Show HG00438.hp1 HG00639.hp1 HG00738.hp2 HG01109.hp2 HG01255.hp2 HG01256.hp1 HG01261.hp2 HG01346.hp2 HG01515.hp2 HG01981.hp1 HG02615.hp1 HG02735.hp2 HG02738.hp2 HG03139.hp1 HG03239.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG06807.hp2 NA18906.hp2 NA18939.hp1 NA18943.hp1 NA18944.hp2 NA18955.hp1 NA19000.hp2 NA19012.hp2 NA19068.hp1 NA19240.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0020 a0001c0001t0025 a0001c0001t0032 a0001c0001t0043 a0001c0001t0047 a0001c0001t0050 a0001c0001t0052 a0001c0001t0059 a0001c0001t0061 a0003c0004t0041	a0001c0001t0001g0013 a0001c0001t0001g0105 a0001c0001t0002g0048 others(27): Show a0001c0001t0001g0013 a0001c0001t0001g0105 a0001c0001t0002g0048 a0001c0001t0003g0047 a0001c0001t0003g0057 a0001c0001t0003g0115 a0001c0001t0004g0016 a0001c0001t0004g0030 a0001c0001t0004g0064 a0001c0001t0007g0055 a0001c0001t0007g0068 a0001c0001t0008g0067 a0001c0001t0008g0082 a0001c0001t0009g0111 a0001c0001t0010g0103 a0001c0001t0010g0110 a0001c0001t0013g0085 a0001c0001t0014g0095 a0001c0001t0015g0063 a0001c0001t0018g0042 a0001c0001t0020g0021 a0001c0001t0025g0097 a0001c0001t0032g0086 a0001c0001t0043g0046 a0001c0001t0047g0070 a0001c0001t0050g0015 a0001c0001t0052g0106 a0001c0001t0059g0062 a0001c0001t0061g0027 a0003c0004t0041g0043	30	116	0.2586	-26	c.-31 others(45): Show c.-313+6521_-313+6546delATATGTATAGATGATATGTATCATAT	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239732534	CTTAGATA others(19): Show CTTAGATAAGTATACCTAATATCTCAT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02818.hp1 HG03831.hp1 others(3): Show HG01255.hp2 HG02818.hp1 HG03831.hp1 NA18939.hp1 NA19012.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 a0001c0001t0017 a0001c0001t0060	a0001c0001t0002g0048 a0001c0001t0003g0057 a0001c0001t0004g0064 others(3): Show a0001c0001t0002g0048 a0001c0001t0003g0057 a0001c0001t0004g0064 a0001c0001t0013g0078 a0001c0001t0017g0050 a0001c0001t0060g0001	6	116	0.0517	-26	c.-14 others(47): Show c.-147+54272_-147+54297delTTTAGATAAGTATACCTAATATCT CA	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRNA1_chr2_174742592_174769472	174768215	CAAACATA others(19): Show CAAACATATACAATAAATTATATATGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG02109.hp2 HG02451.hp1 others(16): Show HG01496.hp1 HG02109.hp2 HG02451.hp1 HG02486.hp1 HG02615.hp1 HG02647.hp2 HG02698.hp2 HG02895.hp1 HG02897.hp1 HG02976.hp1 HG02976.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03710.hp2 NA18522.hp1 NA19030.hp1 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0007t0008	a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0068 others(11): Show a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0001t0007g0082 a0001c0001t0009g0171 a0001c0007t0008g0168	19	370	0.0514	-26	c.-38 others(37): Show c.-3847_-3822delACATATATAATTTATTGTATATGTTT	CHRNA1	ENSG00000138435.16	transcript	ENST00000348749.9	protein_coding		3744		chr2	TogoVar
CHRNA4_chr20_63338223_63366349	63366080	GCTCCCTG others(19): Show GCTCCCTGCCCCCGGCTGTGCTCTCAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG01258.hp1 others(9): Show HG00544.hp2 HG00597.hp1 HG01258.hp1 HG02015.hp1 HG02622.hp1 HG03239.hp2 HG03688.hp1 NA18612.hp2 NA18747.hp2 NA19043.hp2 NA19064.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0003 a0001c0003t0036 a0001c0004t0005 others(1): Show a0001c0001t0003 a0001c0003t0036 a0001c0004t0005 a0001c0005t0031	a0001c0001t0003g0132 a0001c0003t0036g0133 a0001c0004t0005g0012 others(7): Show a0001c0001t0003g0132 a0001c0003t0036g0133 a0001c0004t0005g0012 a0001c0004t0005g0013 a0001c0004t0005g0106 a0001c0004t0005g0136 a0001c0004t0005g0137 a0001c0004t0005g0139 a0001c0004t0005g0144 a0001c0005t0031g0138	12	168	0.0714	-26	c.-49 others(37): Show c.-4941_-4916delTTGAGAGCACAGCCGGGGGCAGGGAG	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		4732		chr20	TogoVar
CHRNB1_chr17_7440061_7462710	7446303	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTCTG	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA18522.hp2 HG02818.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0264 a0001c0001t0001g0265	2	368	0.0054	-26	c.243 others(41): Show c.243+214_243+239delCTGTGTGTGTGTGTGTGTGTGTGTGT	CHRNB1	ENSG00000170175.11	transcript	ENST00000306071.7	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
CHST11_chr12_104451948_104767014	104598890	AGTTGGGA others(19): Show AGTTGGGAGGTGACCCTCACCTCACAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(122): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01496.hp2 HG01517.hp1 HG01891.hp1 HG02040.hp1 HG02040.hp2 HG02074.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02258.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02683.hp2 HG02698.hp1 HG02723.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp2 NA18979.hp1 NA18979.hp2 NA18986.hp1 NA18987.hp2 NA18993.hp1 NA18993.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19030.hp1 NA19030.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19068.hp1 NA19077.hp1 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19086.hp1 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(47): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0040 a0001c0001t0042 a0001c0001t0044 a0001c0001t0045 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0056 a0001c0001t0058 a0001c0001t0061 a0001c0001t0063 a0001c0001t0066 a0001c0001t0068 a0001c0001t0071 a0001c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0018 others(122): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0066 a0001c0001t0001g0074 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0122 a0001c0001t0001g0135 a0001c0001t0001g0143 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0234 a0001c0001t0002g0022 a0001c0001t0002g0076 a0001c0001t0002g0096 a0001c0001t0002g0101 a0001c0001t0002g0108 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0002g0137 a0001c0001t0002g0141 a0001c0001t0002g0149 a0001c0001t0002g0204 a0001c0001t0002g0208 a0001c0001t0002g0221 a0001c0001t0003g0016 a0001c0001t0003g0021 a0001c0001t0003g0030 a0001c0001t0003g0035 a0001c0001t0003g0040 a0001c0001t0003g0050 a0001c0001t0003g0070 a0001c0001t0003g0073 a0001c0001t0003g0075 a0001c0001t0003g0090 a0001c0001t0003g0144 a0001c0001t0003g0216 a0001c0001t0003g0218 a0001c0001t0003g0228 a0001c0001t0003g0230 a0001c0001t0003g0237 a0001c0001t0004g0011 a0001c0001t0004g0063 a0001c0001t0004g0086 a0001c0001t0004g0106 a0001c0001t0004g0223 a0001c0001t0005g0239 a0001c0001t0006g0133 a0001c0001t0006g0138 a0001c0001t0006g0162 a0001c0001t0006g0236 a0001c0001t0007g0072 a0001c0001t0007g0214 a0001c0001t0007g0215 a0001c0001t0008g0163 a0001c0001t0009g0031 a0001c0001t0009g0043 a0001c0001t0010g0012 a0001c0001t0010g0014 a0001c0001t0010g0038 a0001c0001t0010g0123 a0001c0001t0011g0097 a0001c0001t0011g0105 a0001c0001t0012g0175 a0001c0001t0012g0188 a0001c0001t0013g0178 a0001c0001t0013g0179 a0001c0001t0013g0191 a0001c0001t0014g0192 a0001c0001t0014g0198 a0001c0001t0015g0061 a0001c0001t0015g0128 a0001c0001t0016g0084 a0001c0001t0018g0103 a0001c0001t0018g0205 a0001c0001t0019g0006 a0001c0001t0019g0136 a0001c0001t0019g0157 a0001c0001t0021g0183 a0001c0001t0021g0197 a0001c0001t0024g0182 a0001c0001t0024g0195 a0001c0001t0025g0181 a0001c0001t0026g0026 a0001c0001t0026g0047 a0001c0001t0027g0121 a0001c0001t0028g0151 a0001c0001t0030g0032 a0001c0001t0031g0010 a0001c0001t0031g0013 a0001c0001t0032g0093 a0001c0001t0032g0120 a0001c0001t0033g0055 a0001c0001t0034g0170 a0001c0001t0035g0171 a0001c0001t0040g0160 a0001c0001t0042g0194 a0001c0001t0044g0184 a0001c0001t0045g0189 a0001c0001t0047g0017 a0001c0001t0048g0094 a0001c0001t0049g0168 a0001c0001t0050g0148 a0001c0001t0051g0104 a0001c0001t0052g0071 a0001c0001t0053g0057 a0001c0001t0054g0003 a0001c0001t0056g0202 a0001c0001t0058g0119 a0001c0001t0061g0091 a0001c0001t0063g0058 a0001c0001t0066g0053 a0001c0001t0068g0059 a0001c0001t0071g0174 a0001c0003t0001g0115	125	240	0.5208	-26	c.119 others(43): Show c.119-3009_119-2984delAGGTGACCCTCACCTCACAGGTTGGG	CHST11	ENSG00000171310.11	transcript	ENST00000303694.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
CHST11_chr12_104451948_104767014	104610043	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA19068.hp1 HG00544.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0049 a0001c0001t0004 a0001c0001t0049	a0001c0001t0004g0086 a0001c0001t0049g0168 a0001c0001t0004g0086 a0001c0001t0049g0168	2	240	0.0083	-26	c.204 others(43): Show c.204+8080_204+8105delGTGTGTGTGTGTGTGTGTGTGTGTGT	CHST11	ENSG00000171310.11	transcript	ENST00000303694.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
CHST15_chr10_124002668_124098598	124034747	ACCCCCTA others(19): Show ACCCCCTAACAGGGACGCCGGCTCCAC	A A	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	392	0.0026	-26	c.119 others(45): Show c.1190+3742_1190+3767delGTGGAGCCGGCGTCCCTGTTAGGGGG	CHST15	ENSG00000182022.18	transcript	ENST00000435907.6	protein_coding	5/7			chr10	TogoVar
CHST8_chr19_33616953_33778506	33694169	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA19004.hp2 HG04199.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0224 a0001c0001t0002g0052 a0001c0001t0001g0224 a0001c0001t0002g0052	2	254	0.0079	-26	c.130 others(43): Show c.130+4804_130+4829delTATATATATATATATATATATATATA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33757434	GAAAGAAA others(19): Show GAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01258.hp2 HG00639.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0140 a0001c0001t0001g0111 a0001c0001t0001g0140	2	254	0.0079	-26	c.131 others(45): Show c.131-13977_131-13952delAAGAAAGAAAGAAAGAAAGAAAGAAA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHTF8_chr16_69113010_69137588	69134485	TTGAATTG others(19): Show TTGAATTGCCTTCAGGGAAGGCAATTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00544.hp2 others(104): Show HG00099.hp1 HG00280.hp2 HG00544.hp2 HG00621.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01109.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01884.hp2 HG01891.hp2 HG02004.hp2 HG02055.hp2 HG02145.hp1 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp2 NA18948.hp2 NA18951.hp1 NA18957.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp2 NA18968.hp2 NA18985.hp1 NA18998.hp1 NA19001.hp1 NA19007.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19064.hp2 NA19067.hp2 NA19072.hp2 NA19087.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0013 a0002c0002t0001	a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0015 others(76): Show a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0186 a0001c0001t0004g0049 a0001c0001t0004g0201 a0001c0001t0004g0202 a0001c0001t0006g0044 a0001c0001t0013g0184 a0002c0002t0001g0195	107	364	0.2940	-26	c.-20 others(37): Show c.-2063_-2038delGAATTGCCTTCCCTGAAGGCAATTCA	CHTF8	ENSG00000168802.14	transcript	ENST00000448552.7	protein_coding		1898		chr16	TogoVar
CHTOP_chr1_153629066_153651306	153651164	TATATATA others(19): Show TATATATAGATATATAGATAGATATAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01192.hp1 NA20805.hp1 HG01081.hp2 HG01192.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0004 a0001c0001t0007g0004	3	372	0.0081	-26	c.58 others(37): Show c.5896_*5921delATATATAGATATATAGATAGATATAG	CHTOP	ENSG00000160679.14	transcript	ENST00000368694.8	protein_coding		4859		chr1	TogoVar
CIP2A_chr3_108544864_108594438	108588321	ATGGGCAC others(19): Show ATGGGCACTTGAAGTAGGGAAAAGAGG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02109.hp1 HG02723.hp1 others(2): Show HG01106.hp2 HG02109.hp1 HG02723.hp1 HG02809.hp1 HG03486.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0007 a0005c0006t0007	a0005c0006t0007g0289 a0005c0006t0007g0290 a0005c0006t0007g0291 others(2): Show a0005c0006t0007g0289 a0005c0006t0007g0290 a0005c0006t0007g0291 a0005c0006t0007g0292 a0005c0006t0007g0293	5	372	0.0134	-26	c.102 others(41): Show c.102+927_102+952delCCTCTTTTCCCTACTTCAAGTGCCCA	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	1/20			chr3	TogoVar
CISH_chr3_50601489_50616774	50602042	GCGCGTGC others(19): Show GCGCGTGCGCGCGCACACACACACACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	360	0.0028	-26	c.55 others(37): Show c.5539_*5564delTGTGTGTGTGTGTGCGCGCGCACGCG	CISH	ENSG00000114737.16	transcript	ENST00000348721.4	protein_coding		4446		chr3	TogoVar
CISH_chr3_50601489_50616774	50602054	GCACACAC others(19): Show GCACACACACACACACACACACACACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	360	0.0028	-26	c.55 others(37): Show c.5527_*5552delTGTGTGTGTGTGTGTGTGTGTGTGTG	CISH	ENSG00000114737.16	transcript	ENST00000348721.4	protein_coding		4434		chr3	TogoVar
CIT_chr12_119680791_119882320	119701185	AAGGGGGA others(19): Show AAGGGGGAGGGGAGGGAGGGGATGGGG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01109.hp1 HG01168.hp1 others(36): Show HG00741.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02559.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03453.hp2 HG03540.hp2 HG03579.hp2 HG06807.hp1 HG06807.hp2 NA18939.hp2 NA18960.hp1 NA19030.hp1 NA19240.hp2 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0005 others(8): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0013 a0001c0028 a0001c0030 a0002c0004 a0002c0016 a0003c0019 a0005c0020	a0001c0001t0005 a0001c0002t0018 a0001c0002t0020 others(13): Show a0001c0001t0005 a0001c0002t0018 a0001c0002t0020 a0001c0005t0008 a0001c0005t0010 a0001c0005t0022 a0001c0007t0005 a0001c0013t0005 a0001c0028t0003 a0001c0030t0005 a0002c0004t0007 a0002c0004t0011 a0002c0004t0019 a0002c0016t0001 a0003c0019t0003 a0005c0020t0001	a0001c0001t0005g0020 a0001c0002t0018g0068 a0001c0002t0020g0069 others(36): Show a0001c0001t0005g0020 a0001c0002t0018g0068 a0001c0002t0020g0069 a0001c0005t0008g0021 a0001c0005t0008g0022 a0001c0005t0008g0085 a0001c0005t0008g0182 a0001c0005t0008g0215 a0001c0005t0010g0042 a0001c0005t0010g0216 a0001c0005t0010g0217 a0001c0005t0010g0221 a0001c0005t0022g0041 a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0218 a0001c0007t0005g0219 a0001c0007t0005g0220 a0001c0007t0005g0228 a0001c0013t0005g0029 a0001c0028t0003g0229 a0001c0030t0005g0032 a0002c0004t0007g0033 a0002c0004t0007g0050 a0002c0004t0007g0052 a0002c0004t0007g0053 a0002c0004t0007g0054 a0002c0004t0007g0055 a0002c0004t0007g0057 a0002c0004t0011g0035 a0002c0004t0011g0038 a0002c0004t0011g0056 a0002c0004t0011g0162 a0002c0004t0019g0051 a0002c0016t0001g0014 a0002c0016t0001g0061 a0003c0019t0003g0002 a0003c0019t0003g0231 a0005c0020t0001g0027	39	236	0.1653	-26	c.554 others(43): Show c.5543-386_5543-361delCCCCATCCCCTCCCTCCCCTCCCCCT	CIT	ENSG00000122966.18	transcript	ENST00000392521.7	protein_coding	43/47			chr12	TogoVar
CKAP5_chr11_46738048_46851280	46805517	TCTTTTTT others(19): Show TCTTTTTTCCATTTCACCATTTCCCCA	T T	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	294	0.0034	-26	c.978 others(43): Show c.978+2488_978+2513delTGGGGAAATGGTGAAATGGAAAAAAG	CKAP5	ENSG00000175216.15	transcript	ENST00000529230.6	protein_coding	8/43			chr11	TogoVar
CKM_chr19_45301413_45327875	45314115	GGGAAGGG others(19): Show GGGAAGGGAAGGAAGGGAGGGAGGGAA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp2 HG02257.hp1 others(1): Show HG01891.hp2 HG02109.hp2 HG02257.hp1 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0014 a0001c0002 a0001c0003 a0001c0014	a0001c0002t0001 a0001c0003t0001 a0001c0014t0001 a0001c0002t0001 a0001c0003t0001 a0001c0014t0001	a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0003t0001g0223 others(1): Show a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0003t0001g0223 a0001c0014t0001g0328	4	392	0.0102	-26	c.481 others(43): Show c.481+1324_481+1349delTTCCCTCCCTCCCTTCCTTCCCTTCC	CKM	ENSG00000104879.5	transcript	ENST00000221476.4	protein_coding	4/7			chr19	TogoVar
CLASP1_chr2_121332776_121654462	121384086	GTATATAT others(19): Show GTATATATACACACATATATATGTATA	G G	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 NA18946.hp2 others(1): Show HG02896.hp2 HG02897.hp1 NA18946.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0050 a0001c0002t0070 a0001c0002t0015 a0001c0002t0050 a0001c0002t0070	a0001c0002t0015g0143 a0001c0002t0015g0144 a0001c0002t0050g0004 others(1): Show a0001c0002t0015g0143 a0001c0002t0015g0144 a0001c0002t0050g0004 a0001c0002t0070g0207	4	214	0.0187	-26	c.343 others(45): Show c.3438-1788_3438-1763delTATACATATATATGTGTGTATATATA	CLASP1	ENSG00000074054.21	transcript	ENST00000696935.1	protein_coding	33/40			chr2	TogoVar
CLCN3_chr4_169615578_169728673	169663131	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01175.hp2 HG01346.hp1 others(44): Show HG00639.hp2 HG01175.hp2 HG01346.hp1 HG01358.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01981.hp1 HG02055.hp2 HG02132.hp2 HG02145.hp2 HG02280.hp1 HG02451.hp1 HG02559.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp2 HG03704.hp2 HG03927.hp2 HG04204.hp2 NA18940.hp1 NA18982.hp1 NA18984.hp2 NA18989.hp2 NA18994.hp2 NA19009.hp2 NA19030.hp1 NA19066.hp2 NA20129.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0004 a0001c0003t0020 others(7): Show a0001c0003t0003 a0001c0003t0004 a0001c0003t0020 a0001c0003t0022 a0001c0003t0023 a0001c0003t0029 a0001c0003t0037 a0001c0003t0039 a0001c0003t0040 a0001c0003t0049	a0001c0003t0003g0001 a0001c0003t0003g0003 a0001c0003t0003g0013 others(42): Show a0001c0003t0003g0001 a0001c0003t0003g0003 a0001c0003t0003g0013 a0001c0003t0003g0016 a0001c0003t0003g0017 a0001c0003t0003g0018 a0001c0003t0003g0019 a0001c0003t0003g0020 a0001c0003t0003g0021 a0001c0003t0003g0023 a0001c0003t0003g0024 a0001c0003t0003g0025 a0001c0003t0003g0026 a0001c0003t0003g0027 a0001c0003t0003g0028 a0001c0003t0003g0029 a0001c0003t0003g0269 a0001c0003t0003g0271 a0001c0003t0003g0272 a0001c0003t0003g0277 a0001c0003t0004g0033 a0001c0003t0004g0036 a0001c0003t0004g0037 a0001c0003t0004g0039 a0001c0003t0004g0041 a0001c0003t0004g0042 a0001c0003t0004g0043 a0001c0003t0004g0044 a0001c0003t0004g0045 a0001c0003t0004g0046 a0001c0003t0004g0048 a0001c0003t0004g0049 a0001c0003t0004g0050 a0001c0003t0004g0051 a0001c0003t0020g0183 a0001c0003t0020g0184 a0001c0003t0022g0207 a0001c0003t0022g0208 a0001c0003t0023g0035 a0001c0003t0023g0038 a0001c0003t0029g0047 a0001c0003t0037g0040 a0001c0003t0039g0015 a0001c0003t0040g0278 a0001c0003t0049g0270	47	288	0.1632	-26	c.161 others(45): Show c.161-16906_161-16881delTGTGTGTATATATATGTGTGTGTGTG	CLCN3	ENSG00000109572.16	transcript	ENST00000513761.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
CLCN5_chrX_49917596_50104230	50027048	CCTGTTGC others(19): Show CCTGTTGCCCAGGCTGGAGTACAATGG	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02280.hp1 HG02809.hp2 others(5): Show HG00738.hp1 HG02280.hp1 HG02809.hp2 HG02922.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0027 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0027 a0001c0003t0003	a0001c0001t0001g0123 a0001c0001t0004g0169 a0001c0001t0027g0132 others(5): Show a0001c0001t0001g0123 a0001c0001t0004g0169 a0001c0001t0027g0132 a0001c0003t0003g0018 a0001c0003t0003g0161 a0001c0003t0003g0162 a0001c0003t0003g0168 a0001c0003t0003g0175	8	175	0.0457	-26	c.17- others(43): Show c.17-15265_17-15240delGTTGCCCAGGCTGGAGTACAATGGCT	CLCN5	ENSG00000171365.17	transcript	ENST00000376091.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chrX	TogoVar
CLCN5_chrX_49917596_50104230	50062394	ATCAAAAG others(19): Show ATCAAAAGAGACAAAGAAGGCCATTAC	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	175	0.0057	-26	c.164 others(43): Show c.164-7484_164-7459delTCAAAAGAGACAAAGAAGGCCATTAC	CLCN5	ENSG00000171365.17	transcript	ENST00000376091.8	protein_coding	4/14			chrX	TogoVar
CLCNKA_chr1_16017036_16039050	16037991	AACACACA others(19): Show AACACACACACACACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00423.hp2 others(40): Show HG00323.hp1 HG00423.hp1 HG00423.hp2 HG01168.hp2 HG01255.hp2 HG01346.hp1 HG01496.hp1 HG01515.hp1 HG01934.hp1 HG01993.hp2 HG02015.hp2 HG02040.hp2 HG02280.hp1 HG02451.hp2 HG02602.hp1 HG02630.hp2 HG03239.hp2 HG03942.hp1 NA18612.hp2 NA18747.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp2 NA18950.hp2 NA18954.hp2 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18968.hp2 NA18977.hp2 NA18978.hp1 NA18984.hp2 NA18987.hp2 NA18988.hp1 NA18995.hp2 NA19003.hp1 NA19005.hp2 NA19007.hp2 NA19054.hp2 NA19056.hp2 NA19064.hp1 NA19066.hp1 NA19070.hp2	a0003 a0007 a0019 a0003 a0007 a0019	a0003c0003 a0003c0024 a0007c0008 others(1): Show a0003c0003 a0003c0024 a0007c0008 a0019c0030	a0003c0003t0002 a0003c0024t0002 a0007c0008t0002 others(1): Show a0003c0003t0002 a0003c0024t0002 a0007c0008t0002 a0019c0030t0002	a0003c0003t0002g0002 a0003c0003t0002g0012 a0003c0003t0002g0064 others(9): Show a0003c0003t0002g0002 a0003c0003t0002g0012 a0003c0003t0002g0064 a0003c0003t0002g0089 a0003c0003t0002g0090 a0003c0003t0002g0091 a0003c0003t0002g0092 a0003c0003t0002g0093 a0003c0003t0002g0094 a0003c0024t0002g0088 a0007c0008t0002g0017 a0019c0030t0002g0049	43	392	0.1097	-26	c.43 others(37): Show c.4334_*4359delACACACACACACACACACACACACAC	CLCNKA	ENSG00000186510.12	transcript	ENST00000331433.5	protein_coding		3942		chr1	TogoVar
CLDN11_chr3_170413868_170439691	170436592	AAAAAAAA others(19): Show AAAAAAAAAAAAAGAAAAAGAAAAAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	408	0.0025	-26	c.38 others(37): Show c.3837_*3862delAAAAAAAAAAAAGAAAAAGAAAAAGG	CLDN11	ENSG00000013297.12	transcript	ENST00000064724.8	protein_coding		1902		chr3	TogoVar
CLEC16A_chr16_10939564_11187186	11077964	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0115 a0001c0001t0009g0115	1	274	0.0037	-26	c.211 others(47): Show c.2116+16963_2116+16988delGTGTGTGTGTGTGTGTGTGTGTGT GT	CLEC16A	ENSG00000038532.17	transcript	ENST00000409790.6	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CLEC16A_chr16_10939564_11187186	11114128	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0053 a0001c0002t0001g0053	1	274	0.0037	-26	c.211 others(45): Show c.2117-6462_2117-6437delGTGTGTGTGTGTGTGTGTGTGTGTGT	CLEC16A	ENSG00000038532.17	transcript	ENST00000409790.6	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CLEC1A_chr12_10064554_10103985	10087472	TTATATAT others(19): Show TTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	384	0.0026	-26	c.214 others(43): Show c.214+1626_214+1651delTATATATATATATATATATATATATA	CLEC1A	ENSG00000150048.10	transcript	ENST00000315330.8	protein_coding	2/5			chr12	TogoVar
CLEC5A_chr7_141922357_141951974	141933575	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0152 a0001c0001t0003g0152	1	386	0.0026	-26	c.346 others(43): Show c.346-1775_346-1750delATATATATATATATATATATATATAT	CLEC5A	ENSG00000258227.7	transcript	ENST00000546910.6	protein_coding	5/6			chr7	TogoVar
CLEC5A_chr7_141922357_141951974	141951252	TTGACTCC others(19): Show TTGACTCCTTCAGTAACCTCCAAAGAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	386	0.0026	-26	c.-44 others(37): Show c.-4492_-4467delTTCTTTGGAGGTTACTGAAGGAGTCA	CLEC5A	ENSG00000258227.7	transcript	ENST00000546910.6	protein_coding		4279		chr7	TogoVar
CLIC4_chr1_24740447_24849321	24766473	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03516.hp2 NA18522.hp2 HG02055.hp1 HG03516.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0134 a0001c0001t0002g0222 a0001c0001t0004g0099 a0001c0001t0002g0134 a0001c0001t0002g0222 a0001c0001t0004g0099	3	344	0.0087	-26	c.72+ others(43): Show c.72+20871_72+20896delTTTTTTTTTTTTTTTTTTTTTTTTTT	CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CLIC4_chr1_24740447_24849321	24804505	GTGTGTGT others(19): Show GTGTGTGTATGTGGGTGGGTGGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01106.hp2 HG01891.hp1 others(8): Show HG01069.hp1 HG01106.hp2 HG01891.hp1 HG02109.hp1 HG02486.hp1 HG02559.hp2 HG02630.hp1 HG02965.hp2 HG03225.hp2 HG03453.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0015 others(1): Show a0001c0001t0002 a0001c0001t0014 a0001c0001t0015 a0001c0001t0021	a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 others(8): Show a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0237 a0001c0001t0002g0244 a0001c0001t0014g0004 a0001c0001t0015g0110 a0001c0001t0021g0230	11	344	0.0320	-26	c.182 others(43): Show c.182+6689_182+6714delTGTGGGTGGGTGGGGGGATGTGTGTA	CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CLIC4_chr1_24740447_24849321	24804540	TGTGGGTG others(19): Show TGTGGGTGGGTGGGGGGATGTGTGTAC	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0334 a0001c0001t0004g0334	1	344	0.0029	-26	c.182 others(43): Show c.182+6704_182+6729delGGATGTGTGTACGTGGGTGGGTGGGG	CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CLIC5_chr6_45893456_46020860	45958422	TTATATAT others(19): Show TTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0151 a0005c0007t0002g0151	1	340	0.0029	-26	c.64- others(41): Show c.64-3204_64-3179delTATATATATATATATATATATATATA	CLIC5	ENSG00000112782.19	transcript	ENST00000339561.12	protein_coding	1/5			chr6	TogoVar
CLIC5_chr6_45893456_46020860	46006101	TATATATA others(19): Show TATATATATATACACATGTATAAATAC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA18950.hp2 NA19086.hp2 HG02922.hp1 NA18950.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0037 a0001c0001t0002g0219 a0001c0001t0002g0289 a0001c0001t0001g0037 a0001c0001t0002g0219 a0001c0001t0002g0289	3	340	0.0088	-26	c.63+ others(41): Show c.63+9353_63+9378delGTATTTATACATGTGTATATATATAT	CLIC5	ENSG00000112782.19	transcript	ENST00000339561.12	protein_coding	1/5			chr6	TogoVar
CLIP1_chr12_122266469_122427669	122341762	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03831.hp2 NA19005.hp1 HG02683.hp2 HG03831.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0163 a0001c0001t0011g0230 a0001c0001t0011g0231 a0001c0001t0001g0163 a0001c0001t0011g0230 a0001c0001t0011g0231	3	234	0.0128	-26	c.150 others(41): Show c.1507-91_1507-66delAAAAAAAAAAAAAAAAAAAAAAAAAA	CLIP1	ENSG00000130779.22	transcript	ENST00000620786.5	protein_coding	10/25			chr12	TogoVar

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Search Results (Total: 6759 hits)