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
EVX2_chr2_176072472_176088962	176084733	A A	AAGAGAGA others(21): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0014 a0001c0002t0008g0014	1	430	0.0023	28	c.-95 others(37): Show c.-958_-957insCTCTCTCTCTCTCTCTCTCTCTCTCTCT	EVX2	ENSG00000174279.5	transcript	ENST00000308618.5	protein_coding		772		chr2	TogoVar
EXD1_chr15_41177728_41235757	41179536	A A	AAAGGAAG others(21): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00673.hp2 HG01109.hp2 others(27): Show HG00558.hp2 HG00673.hp2 HG01109.hp2 HG01167.hp1 HG01192.hp1 HG01433.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02109.hp1 HG02165.hp1 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG03098.hp2 HG03688.hp2 HG04115.hp1 NA18975.hp2 NA18978.hp1 NA18984.hp2 NA19001.hp2 NA19002.hp1 NA19004.hp1 NA19010.hp1 NA19010.hp2 NA19091.hp2 NA19240.hp2 NA20805.hp1 NA20905.hp1	a0001 a0007 a0001 a0007	a0001c0002 a0001c0006 a0007c0016 a0001c0002 a0001c0006 a0007c0016	a0001c0002t0001 a0001c0002t0006 a0001c0002t0013 others(2): Show a0001c0002t0001 a0001c0002t0006 a0001c0002t0013 a0001c0006t0001 a0007c0016t0001	a0001c0002t0001g0128 a0001c0002t0001g0196 a0001c0002t0001g0198 others(27): Show a0001c0002t0001g0128 a0001c0002t0001g0196 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0205 a0001c0002t0001g0212 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0219 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0229 a0001c0002t0001g0231 a0001c0002t0001g0234 a0001c0002t0001g0239 a0001c0002t0001g0242 a0001c0002t0001g0248 a0001c0002t0001g0255 a0001c0002t0001g0282 a0001c0002t0001g0284 a0001c0002t0001g0289 a0001c0002t0001g0296 a0001c0002t0001g0298 a0001c0002t0001g0313 a0001c0002t0006g0003 a0001c0002t0006g0004 a0001c0002t0013g0238 a0001c0006t0001g0230 a0007c0016t0001g0243	30	318	0.0943	28	c.43 others(39): Show c.4394_*4395insCCTTCCTTCCTTCCTTCCTTCCTTCCTT	EXD1	ENSG00000178997.12	transcript	ENST00000458580.7	protein_coding		3191		chr15	TogoVar
EXD1_chr15_41177728_41235757	41234027	C C	CGGGGGGG others(21): Show CGGGGGGGGGGGGGGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0190	1	318	0.0031	28	c.-36 others(39): Show c.-3603_-3602insCCCCCCCCCCCCCCCCCCCCCCCCCCCC	EXD1	ENSG00000178997.12	transcript	ENST00000458580.7	protein_coding		3271		chr15	TogoVar
EXD3_chr9_137301896_137428162	137408546	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG03688.hp1 HG01993.hp2 HG03688.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0021 a0002c0002 a0004c0021	a0002c0002t0001 a0004c0021t0001 a0002c0002t0001 a0004c0021t0001	a0002c0002t0001g0056 a0004c0021t0001g0069 a0002c0002t0001g0056 a0004c0021t0001g0069	2	82	0.0244	28	c.-47 others(47): Show c.-47-13143_-47-13142insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	1/21			chr9	TogoVar
EXOC2_chr6_480154_698139	501242	C C	CTATATAT others(21): Show CTATATATTATATATATCTATATATATTA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03471.hp2 HG01884.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0011 a0001c0003t0017 a0001c0001t0011 a0001c0003t0017	a0001c0001t0011g0267 a0001c0003t0017g0193 a0001c0001t0011g0267 a0001c0003t0017g0193	2	272	0.0074	28	c.238 others(47): Show c.2381-1543_2381-1542insTAATATATATAGATATATATAATATA TA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	501375	A A	ATTATATA others(21): Show ATTATATATATCTATATATTATATATATC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0007 a0001c0022t0007	a0001c0022t0007g0163 a0001c0022t0007g0163	1	272	0.0037	28	c.238 others(47): Show c.2381-1676_2381-1675insGATATATATAATATATAGATATATAT AA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	501405	A A	ATCTATAT others(21): Show ATCTATATATTATATATATCTATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0229 a0001c0001t0002g0229	1	272	0.0037	28	c.238 others(47): Show c.2381-1706_2381-1705insATATATATAGATATATATAATATATA GA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC3L4_chr14_103089725_103115559	103109689	C C	CTCCCTCC others(21): Show CTCCCTCCCTCTCCACCCTGTCCCCGTGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02056.hp1 HG01891.hp1 HG02056.hp1	a0002 a0029 a0002 a0029	a0002c0025 a0029c0044 a0002c0025 a0029c0044	a0002c0025t0001 a0029c0044t0002 a0002c0025t0001 a0029c0044t0002	a0002c0025t0001g0241 a0029c0044t0002g0322 a0002c0025t0001g0241 a0029c0044t0002g0322	2	404	0.0050	28	c.197 others(45): Show c.1977-342_1977-341insTCCCTCCCTCTCCACCCTGTCCCCGTGT	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11			chr14	TogoVar
EXOC3_chr5_438176_472290	441497	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0166	1	418	0.0024	28	c.-18 others(39): Show c.-1850_-1849insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	EXOC3	ENSG00000180104.16	transcript	ENST00000512944.6	protein_coding		1678		chr5	TogoVar
EXOC4_chr7_133248078_134070761	133604706	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0005 a0001c0003t0002g0005	1	102	0.0098	28	c.141 others(49): Show c.1418-25336_1418-25335insTTTTTTTTTTTTTTTTTTTTTTTT TTTT	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133840494	T T	TTTTATTT others(21): Show TTTTATTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0058 a0001c0003t0018g0058	1	102	0.0098	28	c.173 others(49): Show c.1734+22977_1734+22978insATTTATTTATTTATTTATTTATTT ATTT	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133855120	T T	TATATAAA others(21): Show TATATAAATATATATATAAATATATATAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02976.hp1 HG02280.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0019 a0001c0004t0004 a0001c0001t0019 a0001c0004t0004	a0001c0001t0019g0085 a0001c0004t0004g0037 a0001c0001t0019g0085 a0001c0004t0004g0037	2	102	0.0196	28	c.173 others(49): Show c.1734+37581_1734+37582insAATATATATATAAATATATATAAA TATA	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133857148	G G	GTATATAT others(21): Show GTATATATATATACACATACACGTATATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0012 a0001c0005t0012	a0001c0005t0012g0024 a0001c0005t0012g0024	1	102	0.0098	28	c.173 others(49): Show c.1735-38439_1735-38438insCACATACACGTATATATATATATA TATA	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133941821	T T	TTCTCTCT others(21): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	102	0.0098	28	c.220 others(47): Show c.2206+3755_2206+3782dupTCTCTCTCTCTCTCTCTCTCTCTCTC TC	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC6B_chr2_72170984_72831033	72767808	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0033 a0001c0001t0008g0033	1	104	0.0096	28	c.114 others(47): Show c.114-26340_114-26339insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	1/21			chr2	TogoVar
EXOSC10_chr1_11061618_11104869	11069244	T T	TGTGTGTG others(21): Show TGTGTGTGTGTGTGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02056.hp2 HG04228.hp1 others(4): Show HG00609.hp1 HG02056.hp2 HG04228.hp1 NA18941.hp2 NA18966.hp1 NA18988.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0126 others(4): Show a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0126 a0001c0001t0001g0169 a0001c0009t0001g0144 a0001c0009t0001g0145 a0001c0009t0001g0162	7	284	0.0247	28	c.248 others(45): Show c.2488+314_2488+315insTCTCTCTCTCTCTCTCACACACACACAC	EXOSC10	ENSG00000171824.14	transcript	ENST00000376936.9	protein_coding	22/24			chr1	TogoVar
EXOSC10_chr1_11061618_11104869	11069244	T T	TGTGTGTG others(21): Show TGTGTGTGTGTGTGTGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	284	0.0035	28	c.248 others(45): Show c.2488+314_2488+315insTCTCTCTCTCTCTCACACACACACACAC	EXOSC10	ENSG00000171824.14	transcript	ENST00000376936.9	protein_coding	22/24			chr1	TogoVar
EXT1_chr8_117789490_118116826	117858840	G G	GGAAAGAA others(21): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	190	0.0053	28	c.963 others(47): Show c.963-21640_963-21639insTTTCTTTCTTTCTTTCTTTCTTTCTT TC	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	117973930	C C	CAAGGAAG others(21): Show CAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0083 a0001c0002t0010g0083	1	190	0.0053	28	c.962 others(49): Show c.962+136127_962+136154dupCCTTCCTTCCTTCCTTCCTTCCTT CCTT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	118113695	C C	CTCTCTCT others(21): Show CTCTCTCTATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0118 a0001c0001t0003g0118	1	190	0.0053	28	c.-26 others(39): Show c.-2650_-2649insTATATATATATATATATATATAGAGAGA	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding		1870		chr8	TogoVar
EXT2_chr11_44090678_44256962	44119124	T T	TTTTATAT others(21): Show TTTTATATATGTATATGTATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA18522.hp1 HG03453.hp2 NA18522.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0019 a0002c0005t0019	a0002c0005t0019g0236 a0002c0005t0019g0240 a0002c0005t0019g0236 a0002c0005t0019g0240	2	334	0.0060	28	c.743 others(45): Show c.743+4824_743+4825insTTATATATGTATATGTATATATATATAT	EXT2	ENSG00000151348.16	transcript	ENST00000533608.7	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
EXT2_chr11_44090678_44256962	44119169	T T	TATATATA others(21): Show TATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01255.hp2 NA18942.hp2 NA18987.hp2 others(1): Show HG01255.hp2 NA18942.hp2 NA18987.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0004 a0001c0002t0017 others(1): Show a0001c0001t0005 a0001c0002t0004 a0001c0002t0017 a0001c0002t0041	a0001c0001t0005g0286 a0001c0002t0004g0049 a0001c0002t0017g0048 others(1): Show a0001c0001t0005g0286 a0001c0002t0004g0049 a0001c0002t0017g0048 a0001c0002t0041g0024	4	334	0.0120	28	c.743 others(45): Show c.743+4869_743+4870insTATATATATATATATATATATATACACA	EXT2	ENSG00000151348.16	transcript	ENST00000533608.7	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
EXTL1_chr1_26016775_26041464	26027693	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG03017.hp1 HG01257.hp2 HG03017.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0034 a0002c0002t0003g0034	2	372	0.0054	28	c.780 others(45): Show c.780-1485_780-1484insAAAAAAAAAAAAGAAAAAAAAAAAAAAA	EXTL1	ENSG00000158008.10	transcript	ENST00000374280.4	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EYA1_chr8_71192433_71367069	71207751	G G	GAAAACAC others(21): Show GAAAACACAAATATCAGAGTTTATTATCA	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0126 a0001c0005t0001g0126	1	232	0.0043	28	c.169 others(47): Show c.1698+3377_1698+3404dupTGATAATAAACTCTGATATTTGTGTT TT	EYA1	ENSG00000104313.20	transcript	ENST00000340726.8	protein_coding	17/17			chr8	TogoVar
EYA2_chr20_46889843_47193844	46987916	G G	GACACTCT others(21): Show GACACTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0198 a0001c0003t0002g0198	1	238	0.0042	28	c.-10 others(45): Show c.-10-2085_-10-2084insACACTCTCTCTCTCTCTCTCTCTCTCTC	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15			chr20	TogoVar
EYA2_chr20_46889843_47193844	46987916	G G	GACTCACT others(21): Show GACTCACTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0121 a0001c0001t0003g0121	1	238	0.0042	28	c.-10 others(45): Show c.-10-2085_-10-2084insACTCACTCTCTCTCTCTCTCTCTCTCTC	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15			chr20	TogoVar
EYA2_chr20_46889843_47193844	46987916	G G	GACTCTCT others(21): Show GACTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0036	1	238	0.0042	28	c.-10 others(45): Show c.-10-2085_-10-2084insACTCTCTCTCTCTCTCTCTCTCTCTCTC	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15			chr20	TogoVar
EYA2_chr20_46889843_47193844	46987964	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0171 a0001c0002t0001g0171	1	238	0.0042	28	c.-10 others(45): Show c.-10-2036_-10-2035insCTCTCTCTCTATATATATATATATATAT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	46987964	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0040 a0001c0002t0001g0040	1	238	0.0042	28	c.-10 others(45): Show c.-10-2036_-10-2035insCTCTCTCTCTCTCTATATATATATATAT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	46987964	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0024 a0001c0012t0001g0024	1	238	0.0042	28	c.-10 others(45): Show c.-10-2036_-10-2035insCTCTCTCTCTCTCTCTATATATATATAT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	46987964	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0078 a0001c0001t0003g0078	1	238	0.0042	28	c.-10 others(45): Show c.-10-2036_-10-2035insCTCTCTCTCTCTCTCTCTATATATATAT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	46987964	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	238	0.0042	28	c.-10 others(45): Show c.-10-2036_-10-2035insCTCTCTCTCTCTCTCTCTCTCTATATAT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	46987964	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0176 a0001c0001t0003g0176	1	238	0.0042	28	c.-10 others(45): Show c.-10-2036_-10-2035insCTCTCTCTCTCTCTCTCTCTCTCTATAT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	47057139	G G	GAGGAAGG others(21): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0129 a0001c0002t0001g0129	1	238	0.0042	28	c.416 others(47): Show c.416-15028_416-15001dupGGAAGGAAGGAAGGAAGGAAGGAAGG AA	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	47148058	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG03041.hp2 HG02897.hp1 HG03041.hp2	a0004 a0004	a0004c0008 a0004c0011 a0004c0008 a0004c0011	a0004c0008t0001 a0004c0011t0001 a0004c0008t0001 a0004c0011t0001	a0004c0008t0001g0147 a0004c0011t0001g0099 a0004c0008t0001g0147 a0004c0011t0001g0099	2	238	0.0084	28	c.978 others(45): Show c.978+4925_978+4926insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	47182628	T T	TCAAAAAA others(21): Show TCAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02615.hp2 HG01358.hp1 HG02615.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0006c0010 a0001c0002 a0006c0010	a0001c0002t0001 a0006c0010t0001 a0001c0002t0001 a0006c0010t0001	a0001c0002t0001g0073 a0006c0010t0001g0168 a0001c0002t0001g0073 a0006c0010t0001g0168	2	238	0.0084	28	c.143 others(45): Show c.1436-663_1436-662insCAAAAAAAAAAAAAAAAAAAAAAAAAAA	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	14/15			chr20	TogoVar
EYA3_chr1_27965344_28093610	28073103	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0383 a0001c0001t0004g0383	1	392	0.0026	28	c.-68 others(47): Show c.-68-15010_-68-15009insTATATATATATATATATATATATATA TA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	392	0.0026	28	c.-68 others(47): Show c.-68-15034_-68-15033insAAAATATATATATATATATATATATA TA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(21): Show ATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG04204.hp1 others(2): Show HG01515.hp1 HG01517.hp1 HG04204.hp1 NA19000.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0014 a0001c0001t0003g0016 a0001c0001t0003g0017 others(2): Show a0001c0001t0003g0014 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0045 a0001c0001t0009g0208	5	392	0.0128	28	c.-68 others(47): Show c.-68-15034_-68-15033insAAAAAATATATATATATATATATATA TA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(21): Show ATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG03098.hp1 HG00642.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0019 a0001c0001t0003g0022 a0001c0001t0003g0019 a0001c0001t0003g0022	2	392	0.0051	28	c.-68 others(47): Show c.-68-15034_-68-15033insAAAAAAAATATATATATATATATATA TA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA4_chr6_133236357_133537128	133273097	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0124 a0002c0002t0003g0124	1	264	0.0038	28	c.-65 others(45): Show c.-65-1599_-65-1598insTATATATATATATATATATATATATATA	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
EYS_chr6_63714980_65712226	65271128	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0003 a0003	a0003c0019 a0003c0019	a0003c0019t0001 a0003c0019t0001	a0003c0019t0001g0006 a0003c0019t0001g0006	1	24	0.0417	28	c.202 others(49): Show c.2023+24734_2023+24735insTATATATATATATATATATATATA TATA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	12/42			chr6	TogoVar
EYS_chr6_63714980_65712226	65338287	A A	AAATTTTA others(21): Show AAATTTTATACATATATAAAATTACACAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02809.hp1 HG02630.hp1 HG02809.hp1	a0002 a0011 a0002 a0011	a0002c0008 a0011c0001 a0002c0008 a0011c0001	a0002c0008t0002 a0011c0001t0001 a0002c0008t0002 a0011c0001t0001	a0002c0008t0002g0020 a0011c0001t0001g0013 a0002c0008t0002g0020 a0011c0001t0001g0013	2	24	0.0833	28	c.160 others(47): Show c.1600-3142_1600-3141insATGTGTAATTTTATATATGTATAAAA TT	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	10/42			chr6	TogoVar
EZH2_chr7_148802383_148889291	148839053	T T	TAAGGAAG others(21): Show TAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	380	0.0026	28	c.247 others(45): Show c.247-6331_247-6304dupCCTTCCTTCCTTCCTTCCTTCCTTCCTT	EZH2	ENSG00000106462.12	transcript	ENST00000320356.7	protein_coding	3/19			chr7	TogoVar
EZHIP_chrX_51401948_51413843	51409476	G G	GGGGTGTG others(21): Show GGGGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp1 NA18949.hp2 NA18961.hp1 others(4): Show NA18945.hp1 NA18949.hp2 NA18961.hp1 NA18963.hp1 NA18975.hp1 NA18980.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	7	295	0.0237	28	c.94 others(37): Show c.948_*949insGGGTGTGTGTGTGTGTGTGTGTGTGTGT	EZHIP	ENSG00000187690.4	transcript	ENST00000342995.4	protein_coding		634		chrX	TogoVar
EZHIP_chrX_51401948_51413843	51409476	G G	GGTGTGTG others(21): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02109.hp2 HG02145.hp1 others(4): Show HG01243.hp1 HG02109.hp2 HG02145.hp1 HG02895.hp1 HG02897.hp2 HG03225.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0001t0001g0000 a0001c0002t0001g0000	7	295	0.0237	28	c.94 others(37): Show c.948_*949insGTGTGTGTGTGTGTGTGTGTGTGTGTGT	EZHIP	ENSG00000187690.4	transcript	ENST00000342995.4	protein_coding		634		chrX	TogoVar
F13A1_chr6_6139084_6325662	6210324	G G	GATATATA others(21): Show GATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp2 HG03139.hp2 others(8): Show HG00408.hp2 HG00597.hp2 HG03139.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp2 NA18906.hp1 NA18941.hp2 NA18974.hp2 NA19065.hp1 NA20752.hp2	a0001 a0003 a0012 a0001 a0003 a0012	a0001c0001 a0001c0006 a0003c0003 others(2): Show a0001c0001 a0001c0006 a0003c0003 a0003c0015 a0012c0027	a0001c0001t0001 a0001c0001t0002 a0001c0006t0002 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0002 a0003c0003t0005 a0003c0015t0002 a0012c0027t0003	a0001c0001t0001g0147 a0001c0001t0001g0180 a0001c0001t0001g0232 others(8): Show a0001c0001t0001g0147 a0001c0001t0001g0180 a0001c0001t0001g0232 a0001c0001t0001g0265 a0001c0001t0002g0095 a0001c0001t0002g0102 a0001c0001t0002g0175 a0001c0006t0002g0253 a0003c0003t0005g0085 a0003c0015t0002g0286 a0012c0027t0003g0112	11	292	0.0377	28	c.111 others(49): Show c.1112+11708_1112+11709insATATATATATATATATATATATAT ATAT	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	8/14			chr6	TogoVar
F13A1_chr6_6139084_6325662	6238715	C C	CATATATA others(21): Show CATATATATATATATATATATATGTATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0277 a0002c0002t0004g0277	1	292	0.0034	28	c.798 others(45): Show c.798+9596_798+9597insATATACATATATATATATATATATATAT	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	6/14			chr6	TogoVar
F13A1_chr6_6139084_6325662	6321373	C C	CTCTTTCT others(21): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0237 a0001c0001t0002g0237	1	292	0.0034	28	c.-80 others(37): Show c.-806_-805insAAGAAAGAAAGAAAGAAAGAAAGAAAGA	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding		712		chr6	TogoVar
F2_chr11_46714213_46744506	46721350	G G	GTGGACGA others(21): Show GTGGACGAGTGCACTAGTCGATTCTAGGC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0055 a0001c0004t0001g0055	1	350	0.0029	28	c.316 others(43): Show c.316+511_316+512insGGACGAGTGCACTAGTCGATTCTAGGCT	F2	ENSG00000180210.15	transcript	ENST00000311907.10	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr11	TogoVar

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