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
EXOC4_chr7_133248078_134070761	133787955	TTATATAT others(11): Show TTATATATTTATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18948.hp1 NA18906.hp2 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0001 a0001c0001t0005 a0001c0002t0001	a0001c0001t0005g0040 a0001c0002t0001g0047 a0001c0001t0005g0040 a0001c0002t0001g0047	2	102	0.0196	-18	c.151 others(39): Show c.1515-29362_1515-29345delTTATATATATATATATAT	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133787963	TTATATAT others(11): Show TTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0063 a0001c0002t0001g0063	1	102	0.0098	-18	c.151 others(39): Show c.1515-29330_1515-29313delATATATATATATATATAT	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133857307	ATATATAT others(11): Show ATATATATATATATACACG	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02027.hp2 HG02080.hp1 others(1): Show HG01255.hp2 HG02027.hp2 HG02080.hp1 NA18948.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 others(1): Show a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0008	a0001c0003t0001g0023 a0001c0003t0002g0005 a0001c0004t0001g0067 others(1): Show a0001c0003t0001g0023 a0001c0003t0002g0005 a0001c0004t0001g0067 a0001c0004t0008g0028	4	102	0.0392	-18	c.173 others(39): Show c.1735-38277_1735-38260delCACGTATATATATATATA	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC6B_chr2_72170984_72831033	72305322	GTGTATAT others(11): Show GTGTATATGTATATGTATA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp2 HG00735.hp1 others(31): Show HG00323.hp1 HG00642.hp2 HG00735.hp1 HG01123.hp2 HG01256.hp2 HG01884.hp1 HG01981.hp2 HG02109.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp1 HG02622.hp2 HG02717.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03225.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03927.hp1 NA18906.hp2 NA19030.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0018 a0001c0001t0019 a0001c0001t0025 a0001c0002t0001 a0001c0002t0013	a0001c0001t0002g0027 a0001c0001t0002g0030 a0001c0001t0002g0031 others(31): Show a0001c0001t0002g0027 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0056 a0001c0001t0003g0029 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0049 a0001c0001t0003g0053 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0006g0055 a0001c0001t0007g0038 a0001c0001t0007g0042 a0001c0001t0007g0044 a0001c0001t0008g0033 a0001c0001t0011g0028 a0001c0001t0012g0039 a0001c0001t0012g0052 a0001c0001t0018g0063 a0001c0001t0019g0043 a0001c0001t0025g0059 a0001c0002t0001g0020 a0001c0002t0001g0022 a0001c0002t0013g0024	34	104	0.3269	-18	c.219 others(39): Show c.2196+29607_2196+29624delTATACATATACATATACA	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	20/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72335548	GCACACAC others(11): Show GCACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01515.hp2 others(3): Show HG01168.hp2 HG01169.hp1 HG01515.hp2 HG01516.hp1 NA19010.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0013 a0001c0002t0004g0014 a0001c0002t0004g0017 others(3): Show a0001c0002t0004g0013 a0001c0002t0004g0014 a0001c0002t0004g0017 a0001c0002t0004g0018 a0001c0002t0004g0103 a0001c0002t0004g0104	6	104	0.0577	-18	c.212 others(35): Show c.2123-546_2123-529delTGTGTGTGTGTGTGTGTG	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	19/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72374007	ACATTGCA others(11): Show ACATTGCAGTAAGCCAAGT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0019 a0001c0002t0024g0019	1	104	0.0096	-18	c.212 others(37): Show c.2122+5704_2122+5721delACTTGGCTTACTGCAATG	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	19/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72410365	GTGGTCTG others(11): Show GTGGTCTGTTTCATCTGAA	G G	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA20129.hp1 NA18906.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0006 a0001c0002t0001g0007	2	104	0.0192	-18	c.198 others(39): Show c.1981-30513_1981-30496delTTCAGATGAAACAGACCA	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	18/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72631459	TATAGAGA others(11): Show TATAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0076 a0001c0002t0009g0076	1	104	0.0096	-18	c.670 others(37): Show c.670-55809_670-55792delCTCTCTCTCTCTCTCTAT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	6/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72631461	TAGAGAGA others(11): Show TAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01168.hp2 HG01169.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0103 a0001c0002t0004g0104 a0001c0002t0004g0103 a0001c0002t0004g0104	2	104	0.0192	-18	c.670 others(37): Show c.670-55811_670-55794delCTCTCTCTCTCTCTCTCT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	6/21			chr2	TogoVar
EXOC6_chr10_92843520_93064490	92896173	ATATATAT others(11): Show ATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02886.hp2 NA19030.hp1 others(1): Show HG02622.hp2 HG02886.hp2 NA19030.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0079 a0001c0001t0007g0080 a0001c0001t0007g0143 others(1): Show a0001c0001t0007g0079 a0001c0001t0007g0080 a0001c0001t0007g0143 a0001c0001t0007g0284	4	288	0.0139	-18	c.412 others(35): Show c.412+1155_412+1172delATATATATTTTTTTTTTT	EXOC6	ENSG00000138190.17	transcript	ENST00000260762.10	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
EXOC6_chr10_92843520_93064490	92896177	ATATATTT others(11): Show ATATATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01070.hp2 HG01109.hp1 others(15): Show HG00735.hp2 HG01070.hp2 HG01109.hp1 HG01346.hp2 HG01952.hp2 HG01978.hp1 HG02074.hp2 HG02083.hp1 HG02135.hp2 HG02273.hp2 HG06807.hp1 NA18947.hp2 NA18971.hp1 NA19004.hp1 NA19064.hp1 NA19078.hp2 NA19081.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 others(15): Show a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0146 a0001c0001t0001g0247 a0001c0001t0002g0123	18	288	0.0625	-18	c.412 others(35): Show c.412+1159_412+1176delATATTTTTTTTTTTTTTT	EXOC6	ENSG00000138190.17	transcript	ENST00000260762.10	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
EXOC6_chr10_92843520_93064490	92896179	ATATTTTT others(11): Show ATATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02132.hp2 HG03195.hp1 others(1): Show HG00639.hp2 HG02132.hp2 HG03195.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0150 others(1): Show a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0150 a0001c0001t0001g0151	4	288	0.0139	-18	c.412 others(35): Show c.412+1161_412+1178delATTTTTTTTTTTTTTTTT	EXOC6	ENSG00000138190.17	transcript	ENST00000260762.10	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
EXOC6_chr10_92843520_93064490	92896181	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01256.hp1 HG02109.hp2 others(7): Show HG01099.hp2 HG01256.hp1 HG02109.hp2 HG02559.hp2 HG03017.hp1 HG03239.hp1 HG03491.hp2 HG04199.hp2 NA18943.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0004t0002	a0001c0001t0001g0094 a0001c0001t0001g0126 a0001c0001t0001g0127 others(7): Show a0001c0001t0001g0094 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0170 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0005g0273 a0001c0001t0005g0275 a0001c0004t0002g0145	10	288	0.0347	-18	c.412 others(35): Show c.412+1180_412+1197delTTTTTTTTTTTTTTTTTT	EXOC6	ENSG00000138190.17	transcript	ENST00000260762.10	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
EXOG_chr3_38491340_38531303	38492731	TACACACA others(11): Show TACACACACACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02135.hp2 HG02258.hp1 others(6): Show HG01243.hp2 HG02135.hp2 HG02258.hp1 HG02647.hp2 HG03453.hp1 HG03688.hp1 NA18973.hp1 NA18974.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0055 others(5): Show a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0055 a0001c0001t0001g0096 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0121 a0001c0001t0001g0172	9	412	0.0218	-18	c.-36 others(29): Show c.-3636_-3619delACACACACACACACACAC	EXOG	ENSG00000157036.13	transcript	ENST00000287675.10	protein_coding		3608		chr3	TogoVar
EXOG_chr3_38491340_38531303	38492787	CACACACA others(11): Show CACACACACACACACACAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG02148.hp2 others(3): Show HG01069.hp2 HG01071.hp2 HG02148.hp2 HG02257.hp2 NA18982.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0001 a0001c0001t0004 a0001c0001t0007	a0001c0001t0001g0002 a0001c0001t0001g0047 a0001c0001t0004g0002 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0047 a0001c0001t0004g0002 a0001c0001t0007g0022 a0001c0001t0007g0051	6	412	0.0146	-18	c.-35 others(29): Show c.-3580_-3563delACACACACACACACACAT	EXOG	ENSG00000157036.13	transcript	ENST00000287675.10	protein_coding		3552		chr3	TogoVar
EXOSC3_chr9_37774714_37790064	37777194	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01081.hp1 others(27): Show HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01123.hp2 HG01168.hp2 HG01192.hp1 HG01515.hp1 HG02300.hp2 HG02622.hp2 HG02630.hp1 HG03209.hp1 HG03654.hp2 HG03831.hp1 HG04184.hp1 NA18944.hp2 NA18948.hp1 NA18951.hp2 NA18960.hp1 NA18965.hp1 NA18968.hp1 NA18972.hp2 NA18978.hp1 NA18988.hp2 NA19004.hp2 NA19057.hp2 NA19076.hp2 NA19082.hp1 NA19091.hp2 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0005 a0001c0001t0002g0041 a0001c0001t0002g0044 others(2): Show a0001c0001t0002g0005 a0001c0001t0002g0041 a0001c0001t0002g0044 a0001c0001t0002g0047 a0001c0002t0001g0025	30	432	0.0694	-18	c.34 others(29): Show c.3467_*3484delTTTTTTTTTTTTTTTTTT	EXOSC3	ENSG00000107371.14	transcript	ENST00000327304.10	protein_coding		2519		chr9	TogoVar
EXOSC7_chr3_44971244_45016471	44975766	TCTCTCTC others(11): Show TCTCTCTCACACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0062 a0004c0004t0001g0062	1	340	0.0029	-18	c.-51 others(27): Show c.-511_-494delCTCTCTCACACACACACA	EXOSC7	ENSG00000075914.13	transcript	ENST00000265564.8	protein_coding		477		chr3	TogoVar
EXOSC7_chr3_44971244_45016471	44994856	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02135.hp2 HG02132.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0236 a0001c0001t0001g0239	2	340	0.0059	-18	c.255 others(35): Show c.255-2198_255-2181delGTGTGTGTGTGTGTGTGT	EXOSC7	ENSG00000075914.13	transcript	ENST00000265564.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
EXOSC7_chr3_44971244_45016471	45003334	CGTGCGTG others(11): Show CGTGCGTGCGTGCGTGCGT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	340	0.0029	-18	c.491 others(35): Show c.491+1730_491+1747delCGTGCGTGCGTGCGTGTG	EXOSC7	ENSG00000075914.13	transcript	ENST00000265564.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
EXOSC7_chr3_44971244_45016471	45006068	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01167.hp1 HG00280.hp2 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0223 a0001c0001t0001g0224	2	340	0.0059	-18	c.615 others(33): Show c.615+666_615+683delTTTTTTTTTTTTTTTTTT	EXOSC7	ENSG00000075914.13	transcript	ENST00000265564.8	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
EXPH5_chr11_108500435_108598768	108573170	AAGAAAGA others(11): Show AAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0014 a0014	a0014c0017 a0014c0017	a0014c0017t0016 a0014c0017t0016	a0014c0017t0016g0310 a0014c0017t0016g0310	1	314	0.0032	-18	c.119 others(37): Show c.119+20230_119+20247delCTTTCTTTCTTTCTTTCT	EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	1/5			chr11	TogoVar
EXPH5_chr11_108500435_108598768	108573180	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02109.hp1 HG01175.hp2 HG02109.hp1	a0007 a0034 a0007 a0034	a0007c0007 a0034c0032 a0007c0007 a0034c0032	a0007c0007t0004 a0034c0032t0001 a0007c0007t0004 a0034c0032t0001	a0007c0007t0004g0032 a0034c0032t0001g0024 a0007c0007t0004g0032 a0034c0032t0001g0024	2	314	0.0064	-18	c.119 others(37): Show c.119+20220_119+20237delTTCTTTCTTTCTTTCTTT	EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	1/5			chr11	TogoVar
EXT1_chr8_117789490_118116826	117790869	AAACAACA others(11): Show AAACAACAACAACAACAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02976.hp2 NA18906.hp2 others(2): Show HG02970.hp1 HG02976.hp2 NA18906.hp2 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0025 a0001c0003t0062 others(1): Show a0001c0003t0017 a0001c0003t0025 a0001c0003t0062 a0001c0003t0070	a0001c0003t0017g0186 a0001c0003t0025g0183 a0001c0003t0025g0184 others(2): Show a0001c0003t0017g0186 a0001c0003t0025g0183 a0001c0003t0025g0184 a0001c0003t0062g0166 a0001c0003t0070g0185	5	190	0.0263	-18	c.88 others(29): Show c.8825_*8842delGTTGTTGTTGTTGTTGTT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding		3620		chr8	TogoVar
EXT1_chr8_117789490_118116826	117980694	GGTGGTTT others(11): Show GGTGGTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	190	0.0053	-18	c.962 others(39): Show c.962+129373_962+129390delAAAAAAAAAAAAAACCAC	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	117980698	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp1 HG02257.hp1 others(9): Show HG02055.hp1 HG02145.hp1 HG02257.hp1 HG02280.hp1 HG02622.hp2 HG02630.hp2 HG02970.hp2 HG03041.hp1 HG03195.hp2 HG03225.hp1 NA18906.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0006 a0001c0001t0014 a0001c0001t0015 others(7): Show a0001c0001t0006 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0027 a0001c0001t0032 a0001c0001t0034 a0001c0002t0028 a0001c0006t0004	a0001c0001t0006g0156 a0001c0001t0014g0007 a0001c0001t0014g0009 others(9): Show a0001c0001t0006g0156 a0001c0001t0014g0007 a0001c0001t0014g0009 a0001c0001t0015g0089 a0001c0001t0016g0035 a0001c0001t0016g0076 a0001c0001t0018g0078 a0001c0001t0027g0003 a0001c0001t0032g0011 a0001c0001t0034g0016 a0001c0002t0028g0010 a0001c0006t0004g0020	12	190	0.0632	-18	c.962 others(39): Show c.962+129369_962+129386delAAAAAAAAAAAAAAAAAA	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	117984239	CAAAACCC others(11): Show CAAAACCCTGTCTTTACTA	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0034 a0001c0001t0019g0034	1	190	0.0053	-18	c.962 others(39): Show c.962+125828_962+125845delTAGTAAAGACAGGGTTTT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	118113644	GCTCTCTC others(11): Show GCTCTCTCTCTCTCTCTCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0082 a0001c0005t0010g0082	1	190	0.0053	-18	c.-26 others(29): Show c.-2616_-2599delAGAGAGAGAGAGAGAGAG	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding		1819		chr8	TogoVar
EXT1_chr8_117789490_118116826	118113683	CTCTCTCT others(11): Show CTCTCTCTCTCTCTATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0013 a0001c0007t0013	a0001c0007t0013g0014 a0001c0007t0013g0014	1	190	0.0053	-18	c.-26 others(29): Show c.-2655_-2638delTATATAGAGAGAGAGAGA	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding		1858		chr8	TogoVar
EXT1_chr8_117789490_118116826	118113685	CTCTCTCT others(11): Show CTCTCTCTCTCTATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0056 a0001c0010t0056	a0001c0010t0056g0081 a0001c0010t0056g0081	1	190	0.0053	-18	c.-26 others(29): Show c.-2657_-2640delTATATATAGAGAGAGAGA	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding		1860		chr8	TogoVar
EXT2_chr11_44090678_44256962	44119124	TTATATAT others(11): Show TTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03041.hp2 HG02145.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0311 a0001c0001t0010g0312 a0001c0001t0010g0311 a0001c0001t0010g0312	2	334	0.0060	-18	c.743 others(35): Show c.743+4852_743+4869delTATATATATATATATATA	EXT2	ENSG00000151348.16	transcript	ENST00000533608.7	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
EXT2_chr11_44090678_44256962	44119153	TATATATA others(11): Show TATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00609.hp1 HG00735.hp1 others(29): Show HG00099.hp2 HG00609.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01123.hp2 HG01168.hp2 HG01192.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG02280.hp2 HG02300.hp2 HG02615.hp1 HG02647.hp1 HG02698.hp2 HG02886.hp1 HG03239.hp1 HG04204.hp1 HG04228.hp2 NA18747.hp1 NA18941.hp1 NA18969.hp1 NA18977.hp1 NA18983.hp2 NA19064.hp2 NA19079.hp2 NA19082.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 others(7): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 a0001c0001t0013 a0001c0001t0021 a0001c0001t0025 a0001c0001t0026 a0001c0001t0039 a0001c0001t0057 a0001c0004t0030	a0001c0001t0003g0227 a0001c0001t0005g0017 a0001c0001t0005g0061 others(29): Show a0001c0001t0003g0227 a0001c0001t0005g0017 a0001c0001t0005g0061 a0001c0001t0005g0063 a0001c0001t0005g0064 a0001c0001t0005g0067 a0001c0001t0005g0068 a0001c0001t0005g0069 a0001c0001t0005g0071 a0001c0001t0005g0073 a0001c0001t0005g0075 a0001c0001t0005g0076 a0001c0001t0005g0077 a0001c0001t0005g0078 a0001c0001t0005g0079 a0001c0001t0005g0228 a0001c0001t0012g0004 a0001c0001t0012g0005 a0001c0001t0012g0006 a0001c0001t0012g0083 a0001c0001t0013g0065 a0001c0001t0013g0072 a0001c0001t0013g0080 a0001c0001t0021g0059 a0001c0001t0021g0060 a0001c0001t0025g0057 a0001c0001t0025g0058 a0001c0001t0026g0016 a0001c0001t0026g0082 a0001c0001t0039g0070 a0001c0001t0057g0066 a0001c0004t0030g0062	32	334	0.0958	-18	c.743 others(35): Show c.743+4854_743+4871delTATATATATATATATACA	EXT2	ENSG00000151348.16	transcript	ENST00000533608.7	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
EYA1_chr8_71192433_71367069	71334718	CAGCCATA others(11): Show CAGCCATATCTGACTGCCA	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02486.hp1 HG02622.hp2 others(3): Show HG01069.hp2 HG02486.hp1 HG02622.hp2 HG03098.hp2 HG03139.hp2 HG03225.hp1	a0002 a0002	a0002c0006 a0002c0008 a0002c0006 a0002c0008	a0002c0006t0003 a0002c0006t0026 a0002c0008t0002 a0002c0006t0003 a0002c0006t0026 a0002c0008t0002	a0002c0006t0003g0024 a0002c0006t0003g0025 a0002c0006t0026g0226 others(3): Show a0002c0006t0003g0024 a0002c0006t0003g0025 a0002c0006t0026g0226 a0002c0008t0002g0021 a0002c0008t0002g0022 a0002c0008t0002g0023	6	232	0.0259	-18	c.125 others(33): Show c.125-562_125-545delTGGCAGTCAGATATGGCT	EYA1	ENSG00000104313.20	transcript	ENST00000340726.8	protein_coding	3/17			chr8	TogoVar
EYA1_chr8_71192433_71367069	71364939	CATATATA others(11): Show CATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0224 a0001c0003t0002g0224	1	232	0.0043	-18	c.-33 others(29): Show c.-3365_-3348delATATATATATATATATAT	EYA1	ENSG00000104313.20	transcript	ENST00000340726.8	protein_coding		2871		chr8	TogoVar
EYA2_chr20_46889843_47193844	47011630	CCTTCGGG others(11): Show CCTTCGGGTGTCCACAAGT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00735.hp1 HG01069.hp1 others(44): Show HG00558.hp2 HG00735.hp1 HG01069.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp2 HG01258.hp2 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG02015.hp2 HG02071.hp2 HG02280.hp1 HG02280.hp2 HG02523.hp2 HG02572.hp1 HG02615.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02818.hp1 HG02886.hp2 HG03139.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03704.hp1 HG03834.hp1 NA18939.hp1 NA18940.hp1 NA18954.hp1 NA18956.hp1 NA18968.hp1 NA18989.hp2 NA18998.hp2 NA19240.hp2 NA20129.hp1 NA20752.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0004t0001	a0001c0001t0001g0035 a0001c0001t0001g0091 a0001c0001t0001g0102 others(44): Show a0001c0001t0001g0035 a0001c0001t0001g0091 a0001c0001t0001g0102 a0001c0001t0001g0138 a0001c0001t0001g0172 a0001c0001t0002g0019 a0001c0001t0002g0039 a0001c0001t0002g0044 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0072 a0001c0001t0002g0086 a0001c0001t0002g0115 a0001c0001t0002g0118 a0001c0001t0002g0182 a0001c0001t0002g0188 a0001c0001t0002g0202 a0001c0001t0002g0224 a0001c0001t0002g0229 a0001c0001t0002g0235 a0001c0001t0003g0016 a0001c0001t0003g0022 a0001c0001t0003g0070 a0001c0001t0003g0192 a0001c0001t0003g0195 a0001c0001t0003g0197 a0001c0001t0003g0228 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0002t0001g0009 a0001c0002t0001g0027 a0001c0002t0001g0040 a0001c0002t0001g0064 a0001c0002t0001g0143 a0001c0002t0001g0171 a0001c0002t0001g0174 a0001c0002t0001g0212 a0001c0002t0001g0236 a0001c0002t0004g0002 a0001c0003t0001g0098 a0001c0003t0002g0010 a0001c0003t0002g0067 a0001c0003t0002g0175 a0001c0003t0002g0227 a0001c0003t0003g0018 a0001c0003t0003g0108 a0001c0004t0001g0142	47	238	0.1975	-18	c.299 others(35): Show c.299-4547_299-4530delCGGGTGTCCACAAGTCTT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	47063374	TGTGTGTG others(11): Show TGTGTGTGTGTGCGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01891.hp1 HG01261.hp2 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0121 a0001c0002t0001g0004 a0001c0001t0003g0121 a0001c0002t0001g0004	2	238	0.0084	-18	c.416 others(35): Show c.416-8799_416-8782delCGTGTGCGTGTGTGTGTG	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	47067497	CCATTTAC others(11): Show CCATTTACCCTGATTTGAT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01106.hp1 HG01167.hp1 others(63): Show HG00438.hp1 HG01106.hp1 HG01167.hp1 HG01169.hp2 HG01243.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02071.hp1 HG02109.hp1 HG02129.hp2 HG02280.hp1 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03704.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA18940.hp2 NA18943.hp1 NA18944.hp2 NA18946.hp1 NA18950.hp2 NA18970.hp1 NA18975.hp1 NA18990.hp2 NA18994.hp1 NA18998.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp1 NA19009.hp1 NA19009.hp2 NA19043.hp2 NA19060.hp2 NA19066.hp1 NA19068.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0012 a0001c0013 a0002c0005 a0003c0007 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 a0001c0003t0003 a0001c0012t0001 a0001c0013t0001 a0002c0005t0001 a0003c0007t0001 a0005c0006t0002 a0005c0006t0003	a0001c0001t0001g0005 a0001c0001t0001g0030 a0001c0001t0001g0037 others(63): Show a0001c0001t0001g0005 a0001c0001t0001g0030 a0001c0001t0001g0037 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0105 a0001c0001t0001g0117 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0155 a0001c0001t0001g0164 a0001c0001t0001g0193 a0001c0001t0002g0044 a0001c0001t0002g0058 a0001c0001t0002g0075 a0001c0001t0002g0118 a0001c0001t0002g0135 a0001c0001t0002g0180 a0001c0001t0002g0187 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0224 a0001c0001t0002g0229 a0001c0001t0003g0051 a0001c0001t0003g0062 a0001c0001t0003g0107 a0001c0001t0003g0121 a0001c0001t0003g0158 a0001c0001t0003g0161 a0001c0001t0003g0170 a0001c0001t0003g0228 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0027 a0001c0002t0001g0040 a0001c0002t0001g0063 a0001c0002t0001g0073 a0001c0002t0001g0101 a0001c0002t0001g0122 a0001c0002t0001g0143 a0001c0002t0001g0159 a0001c0002t0001g0171 a0001c0002t0001g0174 a0001c0002t0001g0181 a0001c0002t0001g0211 a0001c0002t0004g0002 a0001c0002t0004g0156 a0001c0002t0004g0169 a0001c0002t0004g0219 a0001c0003t0001g0103 a0001c0003t0003g0045 a0001c0012t0001g0024 a0001c0013t0001g0025 a0002c0005t0001g0031 a0002c0005t0001g0032 a0002c0005t0001g0033 a0003c0007t0001g0007 a0005c0006t0002g0167 a0005c0006t0003g0165	66	238	0.2773	-18	c.416 others(35): Show c.416-4683_416-4666delTACCCTGATTTGATCATT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	47116707	CGCTCCCA others(11): Show CGCTCCCACTGTGTCAACA	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	238	0.0042	-18	c.888 others(37): Show c.888+19542_888+19559delTCCCACTGTGTCAACAGC	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	47154817	TTTTGTGT others(11): Show TTTTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02572.hp1 HG03471.hp2 HG01358.hp1 HG02572.hp1 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0027 a0001c0002t0001g0073 a0001c0002t0001g0174 a0001c0002t0001g0027 a0001c0002t0001g0073 a0001c0002t0001g0174	3	238	0.0126	-18	c.978 others(37): Show c.978+11671_978+11688delTTGTGTGTGTGTGTGTGT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	47156127	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0052 a0001c0001t0003g0052	1	238	0.0042	-18	c.979 others(37): Show c.979-12971_979-12954delATATATATATATATATAT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	47185276	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01192.hp2 HG01261.hp2 others(13): Show HG01175.hp2 HG01192.hp2 HG01261.hp2 HG01358.hp1 HG01884.hp1 HG01891.hp1 HG02074.hp2 HG02451.hp1 HG03098.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG04115.hp1 NA18989.hp1 NA19082.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0003c0007	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0003t0003 a0001c0004t0001 a0003c0007t0001	a0001c0001t0001g0020 a0001c0001t0001g0034 a0001c0001t0001g0163 others(13): Show a0001c0001t0001g0020 a0001c0001t0001g0034 a0001c0001t0001g0163 a0001c0001t0003g0052 a0001c0001t0003g0071 a0001c0001t0003g0121 a0001c0002t0001g0004 a0001c0002t0001g0073 a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0093 a0001c0003t0003g0018 a0001c0003t0003g0049 a0001c0003t0003g0183 a0001c0004t0001g0082 a0003c0007t0001g0007	16	238	0.0672	-18	c.153 others(37): Show c.1536+1910_1536+1927delTTTTTTTTTTTTTTTTTT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA3_chr1_27965344_28093610	27974272	AGAGAGAG others(11): Show AGAGAGAGAGGCAGAGAGG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG03486.hp1 others(1): Show HG02895.hp2 HG02897.hp2 HG03486.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0036 a0001c0001t0016 a0001c0001t0036	a0001c0001t0016g0028 a0001c0001t0016g0029 a0001c0001t0016g0030 others(1): Show a0001c0001t0016g0028 a0001c0001t0016g0029 a0001c0001t0016g0030 a0001c0001t0036g0024	4	392	0.0102	-18	c.17 others(27): Show c.176_*193delCCTCTCTGCCTCTCTCTC	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	18/18	176		chr1	TogoVar
EYA3_chr1_27965344_28093610	28014417	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0266 a0001c0001t0004g0266	1	392	0.0026	-18	c.586 others(35): Show c.586-1141_586-1124delTTTTTTTTTTTTTTTTTT	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	8/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28084556	AATATATA others(11): Show AATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0053 a0001c0001t0003g0053	1	392	0.0026	-18	c.-69 others(35): Show c.-69+3950_-69+3967delATATATATATATATATAT	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28084581	ATATATAT others(11): Show ATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0324 a0001c0001t0002g0324	1	392	0.0026	-18	c.-69 others(35): Show c.-69+3925_-69+3942delAAAATATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA4_chr6_133236357_133537128	133252942	AACACACA others(11): Show AACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0183 a0002c0002t0007g0183	1	264	0.0038	-18	c.-66 others(37): Show c.-66+11224_-66+11241delACACACACACACACACAC	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
EYA4_chr6_133236357_133537128	133342574	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00438.hp1 others(63): Show HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp2 HG00735.hp1 HG01070.hp1 HG01074.hp1 HG01081.hp2 HG01256.hp2 HG01258.hp1 HG01433.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02155.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02895.hp2 HG02897.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04228.hp2 NA18747.hp1 NA18906.hp1 NA18941.hp2 NA18947.hp1 NA18965.hp2 NA18979.hp2 NA18983.hp2 NA18985.hp1 NA18989.hp2 NA18992.hp2 NA18994.hp2 NA19004.hp1 NA19006.hp2 NA19012.hp1 NA19074.hp1 NA19076.hp1 NA19085.hp2 NA19088.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 a0001c0001t0018 a0001c0001t0030 a0001c0001t0037 a0001c0001t0040 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0008 a0002c0002t0009 a0002c0002t0017 a0002c0002t0022 a0002c0002t0023 a0002c0002t0038 a0002c0002t0039 a0002c0002t0052	a0001c0001t0001g0014 a0001c0001t0001g0063 a0001c0001t0001g0184 others(63): Show a0001c0001t0001g0014 a0001c0001t0001g0063 a0001c0001t0001g0184 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0208 a0001c0001t0001g0216 a0001c0001t0001g0220 a0001c0001t0001g0224 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0244 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0262 a0001c0001t0002g0199 a0001c0001t0002g0214 a0001c0001t0002g0225 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0003g0215 a0001c0001t0009g0230 a0001c0001t0011g0083 a0001c0001t0018g0222 a0001c0001t0018g0240 a0001c0001t0030g0139 a0001c0001t0037g0236 a0001c0001t0040g0250 a0002c0002t0001g0025 a0002c0002t0001g0040 a0002c0002t0001g0042 a0002c0002t0001g0061 a0002c0002t0001g0067 a0002c0002t0001g0077 a0002c0002t0001g0125 a0002c0002t0001g0182 a0002c0002t0001g0192 a0002c0002t0001g0198 a0002c0002t0001g0207 a0002c0002t0001g0212 a0002c0002t0001g0223 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0239 a0002c0002t0001g0252 a0002c0002t0002g0238 a0002c0002t0003g0002 a0002c0002t0004g0035 a0002c0002t0004g0181 a0002c0002t0005g0219 a0002c0002t0005g0226 a0002c0002t0005g0227 a0002c0002t0005g0241 a0002c0002t0005g0242 a0002c0002t0006g0044 a0002c0002t0006g0099 a0002c0002t0008g0264 a0002c0002t0009g0148 a0002c0002t0017g0201 a0002c0002t0022g0127 a0002c0002t0023g0204 a0002c0002t0023g0205 a0002c0002t0038g0248 a0002c0002t0039g0213 a0002c0002t0052g0197	66	264	0.2500	-18	c.34- others(35): Show c.34-39804_34-39787delTATATATATATATATATA	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
EYA4_chr6_133236357_133537128	133394282	GTGTTTTT others(11): Show GTGTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19004.hp2 NA19000.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0065 a0001c0001t0001g0004 a0001c0001t0001g0065	2	264	0.0076	-18	c.83+ others(35): Show c.83+11843_83+11860delGTTTTTTTTTTTTTTTTT	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
EYA4_chr6_133236357_133537128	133483698	GTTATTAT others(11): Show GTTATTATTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02040.hp1 HG02155.hp1 others(14): Show HG00609.hp1 HG02040.hp1 HG02155.hp1 HG02559.hp2 HG02965.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG06807.hp1 NA18522.hp2 NA18946.hp2 NA18983.hp1 NA19005.hp1 NA19030.hp1 NA19240.hp2 NA20300.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0006 a0002c0002t0008 others(2): Show a0002c0002t0004 a0002c0002t0006 a0002c0002t0008 a0002c0002t0009 a0002c0002t0015	a0002c0002t0004g0026 a0002c0002t0004g0048 a0002c0002t0004g0181 others(14): Show a0002c0002t0004g0026 a0002c0002t0004g0048 a0002c0002t0004g0181 a0002c0002t0006g0027 a0002c0002t0006g0072 a0002c0002t0006g0081 a0002c0002t0006g0097 a0002c0002t0006g0099 a0002c0002t0006g0245 a0002c0002t0008g0084 a0002c0002t0008g0091 a0002c0002t0008g0092 a0002c0002t0008g0264 a0002c0002t0009g0148 a0002c0002t0015g0101 a0002c0002t0015g0102 a0002c0002t0015g0103	17	264	0.0644	-18	c.119 others(35): Show c.1191+607_1191+624delATTATTATTATTATTATT	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
EYS_chr6_63714980_65712226	64151346	TATATATA others(11): Show TATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02970.hp1 HG02886.hp2 HG02970.hp1	a0001 a0010 a0001 a0010	a0001c0009 a0010c0003 a0001c0009 a0010c0003	a0001c0009t0001 a0010c0003t0001 a0001c0009t0001 a0010c0003t0001	a0001c0009t0001g0012 a0010c0003t0001g0016 a0001c0009t0001g0012 a0010c0003t0001g0016	2	24	0.0833	-18	c.642 others(39): Show c.6425-69362_6425-69345delTTATATATATATATATAT	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	31/42			chr6	TogoVar
EYS_chr6_63714980_65712226	64404372	AGTGTGAG others(11): Show AGTGTGAGAGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03098.hp1 HG02896.hp2 HG03098.hp1	a0006 a0018 a0006 a0018	a0006c0022 a0018c0016 a0006c0022 a0018c0016	a0006c0022t0001 a0018c0016t0001 a0006c0022t0001 a0018c0016t0001	a0006c0022t0001g0011 a0018c0016t0001g0003 a0006c0022t0001g0011 a0018c0016t0001g0003	2	24	0.0833	-18	c.592 others(39): Show c.5928-15550_5928-15533delACACACACACTCTCACAC	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	28/42			chr6	TogoVar

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