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
EXD1_chr15_41177728_41235757	41179536	A A	AAAGGAAG others(25): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0201 a0001c0002t0001g0201	1	318	0.0031	32	c.43 others(43): Show c.4394_*4395insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	EXD1	ENSG00000178997.12	transcript	ENST00000458580.7	protein_coding		3191		chr15	TogoVar
EXD3_chr9_137301896_137428162	137328085	T T	TATGATGA others(25): Show TATGATGAGTAAAAACAACAAGTACACACCCAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00741.hp1 HG00741.hp2 others(15): Show HG00099.hp1 HG00741.hp1 HG00741.hp2 HG01975.hp2 HG02004.hp1 HG02165.hp1 HG02165.hp2 HG02280.hp1 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03669.hp2 HG04184.hp2 NA19007.hp1 NA19007.hp2 NA19066.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0006 a0010 a0011 a0013 a0017 a0023 a0026 a0027 a0031	a0001c0001 a0002c0002 a0003c0003 others(9): Show a0001c0001 a0002c0002 a0003c0003 a0006c0004 a0010c0006 a0011c0011 a0013c0027 a0017c0030 a0023c0016 a0026c0025 a0027c0035 a0031c0033	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(9): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0006c0004t0001 a0010c0006t0001 a0011c0011t0001 a0013c0027t0001 a0017c0030t0001 a0023c0016t0001 a0026c0025t0001 a0027c0035t0001 a0031c0033t0001	a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0059 others(15): Show a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0070 a0002c0002t0001g0028 a0002c0002t0001g0030 a0003c0003t0001g0037 a0006c0004t0001g0027 a0010c0006t0001g0008 a0010c0006t0001g0047 a0011c0011t0001g0020 a0013c0027t0001g0064 a0017c0030t0001g0015 a0023c0016t0001g0019 a0026c0025t0001g0071 a0027c0035t0001g0040 a0031c0033t0001g0017	18	82	0.2195	32	c.199 others(51): Show c.1999-3943_1999-3942insGTGGGTGTGTACTTGTTGTTTTTACT CATCAT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137328149	C C	CACGATGA others(25): Show CACGATGAGTAAAAACAACTAATATACTCCCAT	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0016 a0016	a0016c0026 a0016c0026	a0016c0026t0001 a0016c0026t0001	a0016c0026t0001g0033 a0016c0026t0001g0033	1	82	0.0122	32	c.199 others(51): Show c.1999-4007_1999-4006insATGGGAGTATATTAGTTGTTTTTACT CATCGT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXOC2_chr6_480154_698139	501373	A A	ATATATTA others(25): Show ATATATTATATATATCTATATATTATATATATC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0118 a0001c0002t0002g0118	1	272	0.0037	32	c.238 others(51): Show c.2381-1674_2381-1673insGATATATATAATATATAGATATATAT AATATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	531401	G G	GCACAGAA others(25): Show GCACAGAAAAGTGTGTGCACAGAAAAGTGTGTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(103): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp2 HG00597.hp1 HG01081.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp2 HG01261.hp2 HG01361.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01975.hp2 HG02015.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp2 HG02717.hp1 HG02723.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03516.hp2 HG03540.hp2 HG03710.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18955.hp1 NA18957.hp2 NA18962.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18992.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19074.hp1 NA19077.hp1 NA19085.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0007	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0001c0010 a0001c0011 a0001c0017 a0001c0018 a0001c0019 a0001c0022 a0002c0005 a0004c0009 a0004c0014 a0005c0016 a0007c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(40): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0019 a0001c0001t0025 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0010 a0001c0002t0012 a0001c0002t0020 a0001c0002t0021 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0003t0007 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0005 a0001c0007t0002 a0001c0008t0013 a0001c0010t0002 a0001c0011t0008 a0001c0017t0005 a0001c0018t0003 a0001c0019t0007 a0001c0022t0007 a0002c0005t0002 a0002c0005t0011 a0004c0009t0002 a0004c0009t0009 a0004c0014t0003 a0005c0016t0001 a0007c0012t0001	a0001c0001t0001g0017 a0001c0001t0001g0046 a0001c0001t0001g0064 others(103): Show a0001c0001t0001g0017 a0001c0001t0001g0046 a0001c0001t0001g0064 a0001c0001t0001g0078 a0001c0001t0001g0120 a0001c0001t0002g0013 a0001c0001t0002g0025 a0001c0001t0002g0032 a0001c0001t0002g0106 a0001c0001t0002g0146 a0001c0001t0002g0162 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0174 a0001c0001t0002g0183 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0233 a0001c0001t0002g0235 a0001c0001t0003g0050 a0001c0001t0003g0059 a0001c0001t0003g0124 a0001c0001t0003g0179 a0001c0001t0003g0202 a0001c0001t0003g0232 a0001c0001t0003g0234 a0001c0001t0004g0002 a0001c0001t0004g0087 a0001c0001t0004g0143 a0001c0001t0004g0251 a0001c0001t0005g0088 a0001c0001t0005g0089 a0001c0001t0007g0212 a0001c0001t0011g0267 a0001c0001t0019g0090 a0001c0001t0025g0216 a0001c0002t0001g0008 a0001c0002t0001g0030 a0001c0002t0001g0054 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0073 a0001c0002t0001g0099 a0001c0002t0001g0139 a0001c0002t0001g0253 a0001c0002t0002g0031 a0001c0002t0002g0072 a0001c0002t0002g0118 a0001c0002t0002g0187 a0001c0002t0002g0191 a0001c0002t0003g0043 a0001c0002t0004g0018 a0001c0002t0004g0022 a0001c0002t0004g0250 a0001c0002t0006g0132 a0001c0002t0010g0035 a0001c0002t0010g0055 a0001c0002t0010g0248 a0001c0002t0012g0039 a0001c0002t0012g0044 a0001c0002t0020g0036 a0001c0002t0021g0037 a0001c0003t0001g0068 a0001c0003t0002g0061 a0001c0003t0002g0155 a0001c0003t0002g0178 a0001c0003t0002g0226 a0001c0003t0003g0161 a0001c0003t0003g0169 a0001c0003t0003g0205 a0001c0003t0003g0208 a0001c0003t0003g0223 a0001c0003t0005g0176 a0001c0003t0005g0230 a0001c0003t0007g0157 a0001c0004t0001g0213 a0001c0004t0001g0220 a0001c0004t0002g0156 a0001c0004t0003g0079 a0001c0004t0003g0116 a0001c0004t0004g0006 a0001c0004t0005g0219 a0001c0004t0005g0221 a0001c0004t0005g0224 a0001c0007t0002g0123 a0001c0008t0013g0270 a0001c0008t0013g0271 a0001c0010t0002g0264 a0001c0010t0002g0265 a0001c0011t0008g0154 a0001c0017t0005g0082 a0001c0018t0003g0192 a0001c0019t0007g0186 a0001c0022t0007g0163 a0002c0005t0002g0097 a0002c0005t0002g0152 a0002c0005t0002g0153 a0002c0005t0011g0266 a0004c0009t0002g0194 a0004c0009t0009g0148 a0004c0014t0003g0218 a0005c0016t0001g0172 a0007c0012t0001g0094	106	272	0.3897	32	c.238 others(51): Show c.2380+1067_2380+1068insAACACACTTTTCTGTGCACACACTTT TCTGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	658645	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0226 a0001c0003t0002g0226	1	272	0.0037	32	c.-43 others(51): Show c.-43-20785_-43-20784insTATATATATATATATATATATATATA TATATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	1/27			chr6	TogoVar
EXOC3L2_chr19_45207370_45250407	45245739	C C	CGGGGGGG others(25): Show CGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0001 a0006c0014t0001	a0006c0014t0001g0306 a0006c0014t0001g0306	1	356	0.0028	32	c.-41 others(41): Show c.-416_-415insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	EXOC3L2	ENSG00000283632.4	transcript	ENST00000413988.3	protein_coding		333		chr19	TogoVar
EXOC3L4_chr14_103089725_103115559	103109216	C C	CCCTCCCT others(25): Show CCCTCCCTCGCCACCCTGCCCCCATGTCTCCCT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0309 a0002c0006t0002g0309	1	404	0.0025	32	c.197 others(49): Show c.1976+707_1976+708insGCCACCCTGCCCCCATGTCTCCCTCCTC CCTC	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
EXOC4_chr7_133248078_134070761	133516758	A A	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0011 a0001c0005t0011	a0001c0005t0011g0043 a0001c0005t0011g0043	1	102	0.0098	32	c.141 others(53): Show c.1417+36634_1417+36635insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133857281	A A	ATATATAT others(25): Show ATATATATATACACGTATATATATATATACACG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0056 a0001c0002t0003g0056	1	102	0.0098	32	c.173 others(53): Show c.1735-38308_1735-38307insCACGTATATATATATATACACGTA TATATATA	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133857325	G G	GTATATAT others(25): Show GTATATATATATATATATATACACATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01192.hp1 HG00639.hp2 HG01192.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0099 a0001c0002t0003g0013 a0001c0002t0001g0099 a0001c0002t0003g0013	2	102	0.0196	32	c.173 others(53): Show c.1735-38254_1735-38253insCACATATATATATATATATATATA TATATATA	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC6B_chr2_72170984_72831033	72224994	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0023 a0001c0002t0009g0023	1	104	0.0096	32	c.219 others(53): Show c.2197-40808_2197-40807insTATATATATATATATATATATATA TATATATA	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	20/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72224994	G G	GTGTATAT others(25): Show GTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02257.hp1 HG01516.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0004 a0001c0001t0003 a0001c0002t0004	a0001c0001t0003g0058 a0001c0002t0004g0017 a0001c0001t0003g0058 a0001c0002t0004g0017	2	104	0.0192	32	c.219 others(53): Show c.2197-40808_2197-40807insTATATATATATATATATATATATA TATATACA	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	20/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72224994	G G	GTGTGTAT others(25): Show GTGTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0018 a0001c0002t0004g0018	1	104	0.0096	32	c.219 others(53): Show c.2197-40808_2197-40807insTATATATATATATATATATATATA TATACACA	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	20/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72397660	T T	TAAAATAA others(25): Show TAAAATAAAATAAAATAAAATAAAATAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18522.hp1 HG02109.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0010 a0001c0001t0003 a0001c0003t0010	a0001c0001t0003g0049 a0001c0003t0010g0074 a0001c0001t0003g0049 a0001c0003t0010g0074	2	104	0.0192	32	c.198 others(53): Show c.1981-17791_1981-17790insTTTTTTTATTTTATTTTATTTTAT TTTATTTT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	18/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72595263	A A	ATATATAT others(25): Show ATATATATATATAGATATATAGATATATATATC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0005 a0001c0009t0005	a0001c0009t0005g0021 a0001c0009t0005g0021	1	104	0.0096	32	c.670 others(51): Show c.670-19627_670-19596dupGATATATATATCTATATATCTATATA TATATA	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	6/21			chr2	TogoVar
EXOC6_chr10_92843520_93064490	92974587	T T	TCTCCCTC others(25): Show TCTCCCTCTCCGTCGTCTCCCTCTCCCGTCTCC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0051 a0001c0001t0008g0051	1	288	0.0035	32	c.195 others(49): Show c.1953+358_1953+359insCCTCTCCGTCGTCTCCCTCTCCCGTCTC CCTC	EXOC6	ENSG00000138190.17	transcript	ENST00000260762.10	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
EXOSC10_chr1_11061618_11104869	11069244	T T	TGTGTGTG others(25): Show TGTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19067.hp1 NA19054.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0138 a0001c0001t0001g0124 a0001c0001t0001g0138	2	284	0.0070	32	c.248 others(49): Show c.2488+314_2488+315insTCTCTCTCTCTCTCTCTCTCACACACAC ACAC	EXOSC10	ENSG00000171824.14	transcript	ENST00000376936.9	protein_coding	22/24			chr1	TogoVar
EXOSC10_chr1_11061618_11104869	11069244	T T	TGTGTGTG others(25): Show TGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01081.hp1 HG01975.hp1 others(6): Show HG00673.hp2 HG01081.hp1 HG01975.hp1 HG03491.hp1 NA18943.hp2 NA18950.hp2 NA18957.hp1 NA19083.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0115 a0001c0001t0001g0132 others(6): Show a0001c0001t0001g0030 a0001c0001t0001g0115 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0155 a0001c0001t0001g0166	9	284	0.0317	32	c.248 others(49): Show c.2488+314_2488+315insTCTCTCTCTCTCTCTCTCACACACACAC ACAC	EXOSC10	ENSG00000171824.14	transcript	ENST00000376936.9	protein_coding	22/24			chr1	TogoVar
EXOSC10_chr1_11061618_11104869	11069244	T T	TGTGTGTG others(25): Show TGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG03669.hp2 HG03710.hp2 others(6): Show HG02074.hp2 HG03669.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG04115.hp2 NA18966.hp2 NA18972.hp2 NA19088.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0192 a0002c0004t0001g0193 a0002c0004t0001g0195 others(6): Show a0002c0004t0001g0192 a0002c0004t0001g0193 a0002c0004t0001g0195 a0002c0004t0001g0200 a0002c0004t0001g0201 a0002c0004t0001g0202 a0002c0004t0001g0204 a0002c0004t0001g0205 a0002c0004t0001g0208	9	284	0.0317	32	c.248 others(49): Show c.2488+314_2488+315insTCTCTCTCTCTCTCTCACACACACACAC ACAC	EXOSC10	ENSG00000171824.14	transcript	ENST00000376936.9	protein_coding	22/24			chr1	TogoVar
EXOSC10_chr1_11061618_11104869	11069244	T T	TGTGTGTG others(25): Show TGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	284	0.0035	32	c.248 others(49): Show c.2488+314_2488+315insTCTCTCTCTCTCTCACACACACACACAC ACAC	EXOSC10	ENSG00000171824.14	transcript	ENST00000376936.9	protein_coding	22/24			chr1	TogoVar
EXPH5_chr11_108500435_108598768	108515461	A A	ATGGATTG others(25): Show ATGGATTGGAGCAATATATGTAATTAAAAGTGC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00544.hp2 others(127): Show HG00408.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00673.hp1 HG00738.hp2 HG01070.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01433.hp2 HG01884.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG04199.hp1 HG04204.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18942.hp1 NA18954.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18970.hp2 NA18973.hp1 NA18974.hp2 NA18978.hp2 NA18981.hp2 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18989.hp1 NA18992.hp2 NA18998.hp2 NA19002.hp2 NA19006.hp2 NA19007.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19057.hp1 NA19060.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19082.hp2 NA19087.hp2 NA19091.hp1 NA19240.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp2	a0002 a0005 a0007 others(21): Show a0002 a0005 a0007 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0020 a0022 a0023 a0024 a0025 a0027 a0028 a0029 a0031 a0032 a0033 a0035 a0036	a0002c0002 a0002c0028 a0002c0035 others(26): Show a0002c0002 a0002c0028 a0002c0035 a0005c0005 a0005c0040 a0005c0042 a0005c0048 a0007c0007 a0010c0008 a0011c0011 a0012c0012 a0013c0013 a0014c0017 a0015c0015 a0016c0014 a0017c0016 a0020c0019 a0022c0018 a0023c0041 a0024c0039 a0025c0043 a0027c0045 a0028c0026 a0029c0025 a0031c0030 a0032c0029 a0033c0024 a0035c0031 a0036c0027	a0002c0002t0003 a0002c0002t0007 a0002c0002t0009 others(53): Show a0002c0002t0003 a0002c0002t0007 a0002c0002t0009 a0002c0002t0010 a0002c0002t0013 a0002c0002t0028 a0002c0002t0029 a0002c0002t0031 a0002c0002t0032 a0002c0002t0039 a0002c0002t0040 a0002c0002t0043 a0002c0028t0033 a0002c0035t0044 a0005c0005t0003 a0005c0005t0009 a0005c0005t0010 a0005c0005t0020 a0005c0005t0030 a0005c0005t0034 a0005c0040t0003 a0005c0042t0003 a0005c0048t0003 a0007c0007t0004 a0007c0007t0012 a0007c0007t0021 a0007c0007t0038 a0010c0008t0006 a0010c0008t0037 a0011c0011t0004 a0011c0011t0012 a0011c0011t0021 a0011c0011t0024 a0012c0012t0015 a0012c0012t0016 a0012c0012t0023 a0012c0012t0046 a0013c0013t0006 a0014c0017t0015 a0014c0017t0016 a0015c0015t0014 a0016c0014t0004 a0017c0016t0003 a0020c0019t0022 a0022c0018t0019 a0023c0041t0004 a0024c0039t0003 a0025c0043t0004 a0027c0045t0003 a0028c0026t0016 a0029c0025t0045 a0031c0030t0036 a0032c0029t0004 a0033c0024t0027 a0035c0031t0004 a0036c0027t0041	a0002c0002t0003g0048 a0002c0002t0003g0049 a0002c0002t0003g0062 others(127): Show a0002c0002t0003g0048 a0002c0002t0003g0049 a0002c0002t0003g0062 a0002c0002t0003g0063 a0002c0002t0003g0072 a0002c0002t0003g0078 a0002c0002t0003g0079 a0002c0002t0003g0080 a0002c0002t0003g0126 a0002c0002t0003g0134 a0002c0002t0003g0150 a0002c0002t0003g0151 a0002c0002t0003g0165 a0002c0002t0003g0172 a0002c0002t0003g0174 a0002c0002t0003g0199 a0002c0002t0007g0041 a0002c0002t0007g0045 a0002c0002t0007g0046 a0002c0002t0007g0047 a0002c0002t0007g0108 a0002c0002t0007g0193 a0002c0002t0009g0081 a0002c0002t0009g0181 a0002c0002t0010g0043 a0002c0002t0010g0044 a0002c0002t0010g0183 a0002c0002t0013g0027 a0002c0002t0013g0028 a0002c0002t0013g0192 a0002c0002t0028g0060 a0002c0002t0029g0145 a0002c0002t0031g0191 a0002c0002t0032g0077 a0002c0002t0039g0026 a0002c0002t0040g0069 a0002c0002t0043g0094 a0002c0028t0033g0177 a0002c0035t0044g0090 a0005c0005t0003g0203 a0005c0005t0003g0209 a0005c0005t0003g0211 a0005c0005t0003g0212 a0005c0005t0003g0216 a0005c0005t0003g0219 a0005c0005t0003g0246 a0005c0005t0003g0247 a0005c0005t0003g0252 a0005c0005t0003g0253 a0005c0005t0003g0254 a0005c0005t0003g0262 a0005c0005t0003g0264 a0005c0005t0003g0269 a0005c0005t0003g0270 a0005c0005t0003g0284 a0005c0005t0003g0285 a0005c0005t0003g0287 a0005c0005t0003g0288 a0005c0005t0009g0263 a0005c0005t0009g0293 a0005c0005t0010g0306 a0005c0005t0020g0232 a0005c0005t0020g0307 a0005c0005t0030g0256 a0005c0005t0034g0235 a0005c0040t0003g0217 a0005c0042t0003g0271 a0005c0048t0003g0233 a0007c0007t0004g0029 a0007c0007t0004g0032 a0007c0007t0004g0035 a0007c0007t0004g0039 a0007c0007t0004g0109 a0007c0007t0004g0114 a0007c0007t0004g0164 a0007c0007t0004g0201 a0007c0007t0004g0202 a0007c0007t0012g0025 a0007c0007t0012g0040 a0007c0007t0021g0152 a0007c0007t0038g0038 a0010c0008t0006g0088 a0010c0008t0006g0105 a0010c0008t0006g0106 a0010c0008t0006g0107 a0010c0008t0006g0118 a0010c0008t0006g0120 a0010c0008t0037g0104 a0011c0011t0004g0206 a0011c0011t0004g0268 a0011c0011t0004g0272 a0011c0011t0012g0245 a0011c0011t0021g0250 a0011c0011t0024g0004 a0012c0012t0015g0012 a0012c0012t0016g0013 a0012c0012t0023g0197 a0012c0012t0023g0198 a0012c0012t0046g0196 a0013c0013t0006g0239 a0013c0013t0006g0240 a0013c0013t0006g0241 a0013c0013t0006g0242 a0014c0017t0015g0208 a0014c0017t0015g0221 a0014c0017t0016g0310 a0015c0015t0014g0031 a0015c0015t0014g0036 a0015c0015t0014g0037 a0016c0014t0004g0095 a0016c0014t0004g0098 a0016c0014t0004g0099 a0017c0016t0003g0007 a0017c0016t0003g0053 a0017c0016t0003g0054 a0020c0019t0022g0092 a0020c0019t0022g0124 a0022c0018t0019g0022 a0022c0018t0019g0023 a0023c0041t0004g0210 a0024c0039t0003g0294 a0025c0043t0004g0207 a0027c0045t0003g0230 a0028c0026t0016g0082 a0029c0025t0045g0112 a0031c0030t0036g0093 a0032c0029t0004g0113 a0033c0024t0027g0017 a0035c0031t0004g0184 a0036c0027t0041g0116	130	314	0.4140	32	c.632 others(47): Show c.632-587_632-586insGCACTTTTAATTACATATATTGCTCCAATC CA	EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	5/5			chr11	TogoVar
EXT1_chr8_117789490_118116826	117858844	G G	GGAAAGAA others(25): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	190	0.0053	32	c.963 others(51): Show c.963-21675_963-21644dupTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTC	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	117973930	C C	CAAGGAAG others(25): Show CAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0075 a0001c0001t0009g0075	1	190	0.0053	32	c.962 others(53): Show c.962+136123_962+136154dupCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	118113695	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01261.hp2 HG01074.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0007 a0001c0003t0002 a0001c0001t0007 a0001c0003t0002	a0001c0001t0007g0150 a0001c0003t0002g0154 a0001c0001t0007g0150 a0001c0003t0002g0154	2	190	0.0105	32	c.-26 others(43): Show c.-2650_-2649insTATATATATATATATATATATAGAGAGAGAGA	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding		1870		chr8	TogoVar
EXT2_chr11_44090678_44256962	44119139	T T	TATATATA others(25): Show TATATATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0204 a0001c0001t0002g0204	1	334	0.0030	32	c.743 others(49): Show c.743+4865_743+4866insCATACATATATATATATATATATATATA TATA	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(25): Show TATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0048 a0001c0002t0048	a0001c0002t0048g0051 a0001c0002t0048g0051	1	334	0.0030	32	c.743 others(49): Show c.743+4869_743+4870insTATATATATATATATATATATATATATA CACA	EXT2	ENSG00000151348.16	transcript	ENST00000533608.7	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
EYA2_chr20_46889843_47193844	46986403	G G	GATCTATA others(25): Show GATCTATATAATATCTATATATATAATATATAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01069.hp1 HG01069.hp2 others(82): Show HG00558.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01496.hp1 HG01884.hp2 HG02015.hp1 HG02015.hp2 HG02071.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18943.hp1 NA18944.hp2 NA18949.hp1 NA18954.hp1 NA18956.hp1 NA18963.hp2 NA18968.hp1 NA18970.hp2 NA18979.hp2 NA18982.hp1 NA18989.hp2 NA18998.hp2 NA19065.hp1 NA19090.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0005 a0003c0007 a0004c0008 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0004t0001 a0002c0005t0001 a0003c0007t0001 a0004c0008t0001 a0006c0010t0001	a0001c0001t0001g0035 a0001c0001t0001g0104 a0001c0001t0001g0138 others(82): Show a0001c0001t0001g0035 a0001c0001t0001g0104 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0172 a0001c0001t0002g0019 a0001c0001t0002g0039 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0061 a0001c0001t0002g0072 a0001c0001t0002g0086 a0001c0001t0002g0115 a0001c0001t0002g0118 a0001c0001t0002g0182 a0001c0001t0002g0188 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0202 a0001c0001t0002g0224 a0001c0001t0002g0229 a0001c0001t0002g0235 a0001c0001t0003g0013 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0036 a0001c0001t0003g0051 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0078 a0001c0001t0003g0083 a0001c0001t0003g0113 a0001c0001t0003g0121 a0001c0001t0003g0170 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0195 a0001c0001t0003g0197 a0001c0001t0003g0228 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0002t0001g0003 a0001c0002t0001g0009 a0001c0002t0001g0027 a0001c0002t0001g0029 a0001c0002t0001g0040 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0129 a0001c0002t0001g0133 a0001c0002t0001g0153 a0001c0002t0001g0171 a0001c0002t0001g0174 a0001c0002t0001g0212 a0001c0002t0001g0225 a0001c0002t0004g0028 a0001c0002t0004g0156 a0001c0002t0004g0169 a0001c0002t0004g0219 a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0103 a0001c0003t0001g0166 a0001c0003t0002g0010 a0001c0003t0002g0067 a0001c0003t0002g0068 a0001c0003t0002g0146 a0001c0003t0002g0175 a0001c0003t0002g0227 a0001c0003t0003g0018 a0001c0003t0003g0049 a0001c0003t0003g0085 a0001c0003t0003g0234 a0001c0004t0001g0006 a0002c0005t0001g0031 a0002c0005t0001g0032 a0002c0005t0001g0033 a0003c0007t0001g0023 a0004c0008t0001g0147 a0006c0010t0001g0168	85	238	0.3571	32	c.-10 others(49): Show c.-10-3597_-10-3566dupATCTATATAATATCTATATATATAATAT ATAA	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(25): Show CTCTCTCTCTCTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03516.hp1 HG03471.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0029 a0001c0002t0004g0002 a0001c0002t0001g0029 a0001c0002t0004g0002	2	238	0.0084	32	c.-10 others(49): Show c.-10-2036_-10-2035insCTCTCTCTCTATATATATATATATATAT ATAT	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(25): Show CTCTCTCTCTCTCTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	238	0.0042	32	c.-10 others(49): Show c.-10-2036_-10-2035insCTCTCTCTCTCTATATATATATATATAT ATAT	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(25): Show CTCTCTCTCTCTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA19003.hp2 HG04228.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0145 a0001c0001t0003g0190 a0001c0001t0002g0145 a0001c0001t0003g0190	2	238	0.0084	32	c.-10 others(49): Show c.-10-2036_-10-2035insCTCTCTCTCTCTCTCTCTATATATATAT ATAT	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(25): Show CTCTCTCTCTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	238	0.0042	32	c.-10 others(49): Show c.-10-2036_-10-2035insCTCTCTCTCTCTCTCTCTCTCTATATAT ATAT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	47148058	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	238	0.0042	32	c.978 others(49): Show c.978+4925_978+4926insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	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(25): Show TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0065 a0001c0002t0001g0065	1	238	0.0042	32	c.143 others(49): Show c.1436-663_1436-662insCAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	14/15			chr20	TogoVar
EYA3_chr1_27965344_28093610	28073103	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02965.hp1 HG03579.hp2 HG02132.hp2 HG02965.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0012 a0001c0001t0002 a0001c0001t0005 a0001c0001t0012	a0001c0001t0002g0253 a0001c0001t0005g0288 a0001c0001t0012g0364 a0001c0001t0002g0253 a0001c0001t0005g0288 a0001c0001t0012g0364	3	392	0.0077	32	c.-68 others(51): Show c.-68-15010_-68-15009insTATATATATATATATATATATATATA TATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073103	T T	TTCTATAT others(25): Show TTCTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18991.hp2 NA18967.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0039 a0001c0001t0003g0087 a0001c0001t0003g0039 a0001c0001t0003g0087	2	392	0.0051	32	c.-68 others(51): Show c.-68-15010_-68-15009insTATATATATATATATATATATATATA TATAGA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA19057.hp2 NA19082.hp2 HG02630.hp1 NA19057.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006	a0001c0001t0003g0026 a0001c0001t0004g0377 a0001c0001t0006g0365 a0001c0001t0003g0026 a0001c0001t0004g0377 a0001c0001t0006g0365	3	392	0.0077	32	c.-68 others(51): Show c.-68-15034_-68-15033insAAAATATATATATATATATATATATA TATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 NA18959.hp1 NA18984.hp1 others(1): Show HG01192.hp2 NA18959.hp1 NA18984.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 a0001c0001t0002 a0001c0001t0003 a0001c0001t0018	a0001c0001t0002g0261 a0001c0001t0003g0056 a0001c0001t0003g0086 others(1): Show a0001c0001t0002g0261 a0001c0001t0003g0056 a0001c0001t0003g0086 a0001c0001t0018g0303	4	392	0.0102	32	c.-68 others(51): Show c.-68-15034_-68-15033insAAAAAATATATATATATATATATATA TATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 NA18944.hp1 HG00140.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0062 a0001c0001t0003g0076 a0001c0001t0003g0062 a0001c0001t0003g0076	2	392	0.0051	32	c.-68 others(51): Show c.-68-15034_-68-15033insAAAAAAAATATATATATATATATATA TATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA4_chr6_133236357_133537128	133273097	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02896.hp1 HG02897.hp1 HG02723.hp2 HG02896.hp1 HG02897.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0009 a0002c0002t0001 a0001c0001t0004 a0001c0001t0009 a0002c0002t0001	a0001c0001t0004g0134 a0001c0001t0009g0137 a0002c0002t0001g0135 a0001c0001t0004g0134 a0001c0001t0009g0137 a0002c0002t0001g0135	3	264	0.0114	32	c.-65 others(49): Show c.-65-1599_-65-1598insTATATATATATATATATATATATATATA TATA	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
EYA4_chr6_133236357_133537128	133273097	G G	GTGTATAT others(25): Show GTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0099 a0002c0002t0006g0099	1	264	0.0038	32	c.-65 others(49): Show c.-65-1618_-65-1617insGTATATATATATATATATATATATATAT ATAT	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
EYA4_chr6_133236357_133537128	133273097	G G	GTGTGTAT others(25): Show GTGTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0051 a0002c0002t0051	a0002c0002t0051g0179 a0002c0002t0051g0179	1	264	0.0038	32	c.-65 others(49): Show c.-65-1618_-65-1617insGTGTATATATATATATATATATATATAT ATAT	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
EYS_chr6_63714980_65712226	64989394	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0006 a0006	a0006c0022 a0006c0022	a0006c0022t0001 a0006c0022t0001	a0006c0022t0001g0011 a0006c0022t0001g0011	1	24	0.0417	32	c.225 others(51): Show c.2259+8187_2259+8188insATATATATATATATATATATATATAT ATATAT	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	14/42			chr6	TogoVar
EYS_chr6_63714980_65712226	65443286	G G	GCATATAT others(25): Show GCATATATGCATACATGTGTGCACACATATAGA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02896.hp1 HG01169.hp2 HG02896.hp1	a0003 a0005 a0003 a0005	a0003c0019 a0005c0010 a0003c0019 a0005c0010	a0003c0019t0001 a0005c0010t0001 a0003c0019t0001 a0005c0010t0001	a0003c0019t0001g0006 a0005c0010t0001g0015 a0003c0019t0001g0006 a0005c0010t0001g0015	2	24	0.0833	32	c.863 others(51): Show c.863-37920_863-37919insTCTATATGTGTGCACACATGTATGCA TATATG	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	5/42			chr6	TogoVar
EYS_chr6_63714980_65712226	65443286	G G	GCATATAT others(25): Show GCATATATGCATACATGTGTGTACACATATAGA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02809.hp1 HG03098.hp2 others(1): Show HG02622.hp1 HG02809.hp1 HG03098.hp2 HG03209.hp1	a0002 a0009 a0013 others(1): Show a0002 a0009 a0013 a0016	a0002c0008 a0009c0006 a0013c0020 others(1): Show a0002c0008 a0009c0006 a0013c0020 a0016c0014	a0002c0008t0002 a0009c0006t0001 a0013c0020t0002 others(1): Show a0002c0008t0002 a0009c0006t0001 a0013c0020t0002 a0016c0014t0001	a0002c0008t0002g0020 a0009c0006t0001g0004 a0013c0020t0002g0022 others(1): Show a0002c0008t0002g0020 a0009c0006t0001g0004 a0013c0020t0002g0022 a0016c0014t0001g0005	4	24	0.1667	32	c.863 others(51): Show c.863-37951_863-37920dupTCTATATGTGTACACACATGTATGCA TATATG	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	5/42			chr6	TogoVar
EYS_chr6_63714980_65712226	65519708	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0003 a0003	a0003c0019 a0003c0019	a0003c0019t0001 a0003c0019t0001	a0003c0019t0001g0006 a0003c0019t0001g0006	1	24	0.0417	32	c.-33 others(53): Show c.-332-23716_-332-23715insAAAAAAAATATATATATATATATA TATATATA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	2/42			chr6	TogoVar
EZH2_chr7_148802383_148889291	148839053	T T	TAAGGAAG others(25): Show TAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	380	0.0026	32	c.247 others(49): Show c.247-6335_247-6304dupCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTT	EZH2	ENSG00000106462.12	transcript	ENST00000320356.7	protein_coding	3/19			chr7	TogoVar
F10_chr13_113117799_113154529	113148345	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0334 a0001c0002t0001g0334	1	412	0.0024	32	c.866 others(47): Show c.866-553_866-552insATATATATATATATATATATATATATATAT AT	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
F10_chr13_113117799_113154529	113154137	A A	AGGGCGCG others(25): Show AGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	412	0.0024	32	c.46 others(43): Show c.4620_*4621insGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCG	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		4609		chr13	TogoVar
F10_chr13_113117799_113154529	113154293	A A	AGGGCGCG others(25): Show AGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01943.hp2 HG02155.hp1 others(19): Show HG01261.hp1 HG01943.hp2 HG02155.hp1 HG02723.hp2 HG02970.hp2 HG03225.hp2 HG03579.hp2 NA18522.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18951.hp2 NA18963.hp1 NA18964.hp2 NA18983.hp2 NA19011.hp2 NA19056.hp2 NA19060.hp1 NA19070.hp1 NA19079.hp1 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0007t0001 a0002c0003t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0013 others(17): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0066 a0001c0002t0001g0015 a0001c0002t0001g0055 a0001c0002t0001g0065 a0001c0002t0001g0076 a0001c0002t0001g0101 a0001c0002t0001g0153 a0001c0002t0001g0199 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0275 a0001c0002t0001g0330 a0001c0002t0001g0340 a0001c0002t0001g0376 a0001c0004t0001g0372 a0001c0007t0001g0044 a0002c0003t0001g0020	22	412	0.0534	32	c.47 others(43): Show c.4776_*4777insGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCG	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		4765		chr13	TogoVar

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