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
DOCK8_chr9_209865_470255	400386	C C	CATCACCA others(11): Show CATCACCACCACCTCCACT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp2 HG00621.hp1 others(8): Show HG00558.hp2 HG00609.hp2 HG00621.hp1 HG01884.hp1 HG02109.hp2 HG02895.hp1 HG02897.hp2 HG03834.hp2 NA18939.hp2 NA18942.hp1 NA19010.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0002 a0001c0003 a0002c0007 others(4): Show a0001c0002 a0001c0003 a0002c0007 a0002c0020 a0002c0110 a0003c0004 a0007c0109	a0001c0002t0001 a0001c0003t0001 a0002c0007t0001 others(4): Show a0001c0002t0001 a0001c0003t0001 a0002c0007t0001 a0002c0020t0003 a0002c0110t0002 a0003c0004t0001 a0007c0109t0002	a0001c0002t0001g0043 a0001c0002t0001g0049 a0001c0002t0001g0221 others(8): Show a0001c0002t0001g0043 a0001c0002t0001g0049 a0001c0002t0001g0221 a0001c0003t0001g0117 a0002c0007t0001g0194 a0002c0020t0003g0038 a0002c0020t0003g0039 a0002c0110t0002g0040 a0003c0004t0001g0156 a0003c0004t0001g0160 a0007c0109t0002g0094	11	256	0.0430	18	c.323 others(37): Show c.3234+1144_3234+1145insTATCACCACCACCTCCAC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400548	C C	CCACCTCC others(11): Show CCACCTCCCCCACTACCAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03654.hp2 HG00639.hp1 HG03654.hp2	a0002 a0039 a0002 a0039	a0002c0102 a0039c0052 a0002c0102 a0039c0052	a0002c0102t0001 a0039c0052t0001 a0002c0102t0001 a0039c0052t0001	a0002c0102t0001g0204 a0039c0052t0001g0079 a0002c0102t0001g0204 a0039c0052t0001g0079	2	256	0.0078	18	c.323 others(37): Show c.3234+1291_3234+1292insCCTCCCCCACTACCAACA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400557	T T	TCACCATC others(11): Show TCACCATCACCACCACCTC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0107 a0002c0107	a0002c0107t0001 a0002c0107t0001	a0002c0107t0001g0073 a0002c0107t0001g0073	1	256	0.0039	18	c.323 others(37): Show c.3234+1314_3234+1315insTCCACCATCACCACCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400638	C C	CCACCACC others(11): Show CCACCACCACCAGCATCTT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG03017.hp2 NA18964.hp2 others(3): Show HG02071.hp1 HG03017.hp2 NA18964.hp2 NA18987.hp2 NA19090.hp1 NA19091.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0010	a0001c0002 a0001c0059 a0001c0072 others(3): Show a0001c0002 a0001c0059 a0001c0072 a0003c0001 a0005c0160 a0010c0103	a0001c0002t0001 a0001c0059t0001 a0001c0072t0004 others(3): Show a0001c0002t0001 a0001c0059t0001 a0001c0072t0004 a0003c0001t0001 a0005c0160t0005 a0010c0103t0003	a0001c0002t0001g0041 a0001c0059t0001g0100 a0001c0072t0004g0239 others(3): Show a0001c0002t0001g0041 a0001c0059t0001g0100 a0001c0072t0004g0239 a0003c0001t0001g0048 a0005c0160t0005g0129 a0010c0103t0003g0230	6	256	0.0234	18	c.323 others(37): Show c.3234+1384_3234+1385insCCACCAGCATCTTCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400719	C C	CCACCACC others(11): Show CCACCACCACCTCCACCAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01993.hp1 HG03098.hp2 HG01109.hp1 HG01993.hp1 HG03098.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0107 a0003c0001 a0001c0002 a0002c0107 a0003c0001	a0001c0002t0001 a0002c0107t0001 a0003c0001t0009 a0001c0002t0001 a0002c0107t0001 a0003c0001t0009	a0001c0002t0001g0115 a0002c0107t0001g0073 a0003c0001t0009g0167 a0001c0002t0001g0115 a0002c0107t0001g0073 a0003c0001t0009g0167	3	256	0.0117	18	c.323 others(37): Show c.3234+1477_3234+1478insTCACCACCACCTCCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400803	C C	CCACCACC others(11): Show CCACCACCACCAGCATCTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0107 a0002c0107	a0002c0107t0001 a0002c0107t0001	a0002c0107t0001g0073 a0002c0107t0001g0073	1	256	0.0039	18	c.323 others(37): Show c.3234+1549_3234+1550insCCACCAGCATCTTCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400977	T T	TCACCACC others(11): Show TCACCACCTCCACCATCAC	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA19070.hp1 NA19074.hp1 NA18939.hp1 NA19070.hp1 NA19074.hp1	a0002 a0003 a0002 a0003	a0002c0005 a0003c0001 a0002c0005 a0003c0001	a0002c0005t0001 a0003c0001t0001 a0002c0005t0001 a0003c0001t0001	a0002c0005t0001g0096 a0003c0001t0001g0130 a0003c0001t0001g0154 a0002c0005t0001g0096 a0003c0001t0001g0130 a0003c0001t0001g0154	3	256	0.0117	18	c.323 others(37): Show c.3234+1728_3234+1729insACCATCACCACCACCTCC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400989	C C	CCACCATC others(11): Show CCACCATCACCACCTCCTT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0018 a0018	a0018c0085 a0018c0085	a0018c0085t0006 a0018c0085t0006	a0018c0085t0006g0029 a0018c0085t0006g0029	1	256	0.0039	18	c.323 others(37): Show c.3234+1735_3234+1736insTCACCACCTCCTTCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	415692	G G	GCACACAC others(11): Show GCACACACGCACACACACA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0053 a0053	a0053c0139 a0053c0139	a0053c0139t0003 a0053c0139t0003	a0053c0139t0003g0177 a0053c0139t0003g0177	1	256	0.0039	18	c.370 others(35): Show c.3700+748_3700+749insGCACACACACACACACAC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	29/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	415692	G G	GCACACAC others(11): Show GCACACACGCACGCACACA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0010 a0010	a0010c0092 a0010c0092	a0010c0092t0011 a0010c0092t0011	a0010c0092t0011g0126 a0010c0092t0011g0126	1	256	0.0039	18	c.370 others(35): Show c.3700+748_3700+749insGCACGCACACACACACAC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	29/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	444335	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18943.hp1 NA18970.hp1 others(3): Show HG02109.hp1 NA18943.hp1 NA18970.hp1 NA18990.hp2 NA19070.hp2 NA19079.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0054	a0001c0049 a0002c0005 a0003c0001 others(1): Show a0001c0049 a0002c0005 a0003c0001 a0054c0137	a0001c0049t0013 a0002c0005t0001 a0003c0001t0001 others(1): Show a0001c0049t0013 a0002c0005t0001 a0003c0001t0001 a0054c0137t0001	a0001c0049t0013g0219 a0002c0005t0001g0109 a0002c0005t0001g0180 others(3): Show a0001c0049t0013g0219 a0002c0005t0001g0109 a0002c0005t0001g0180 a0003c0001t0001g0131 a0003c0001t0001g0133 a0054c0137t0001g0139	6	256	0.0234	18	c.558 others(35): Show c.5580+832_5580+849dupAATAATAATAATAATAAT	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	43/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK9_chr13_98788429_98983064	98791319	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0144 a0001c0010t0002g0144	1	348	0.0029	18	c.33 others(29): Show c.3306_*3307insAAAAAAAAAAAAAAAAAA	DOCK9	ENSG00000088387.22	transcript	ENST00000682017.1	protein_coding		2109		chr13	TogoVar
DOCK9_chr13_98788429_98983064	98859749	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	348	0.0029	18	c.369 others(35): Show c.3697+655_3697+656insTATATATATATATATATA	DOCK9	ENSG00000088387.22	transcript	ENST00000682017.1	protein_coding	33/52			chr13	TogoVar
DOCK9_chr13_98788429_98983064	98887125	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03834.hp2 others(9): Show HG03490.hp2 HG03492.hp2 HG03834.hp2 HG04204.hp2 NA18961.hp1 NA18969.hp1 NA18979.hp2 NA18995.hp1 NA19066.hp1 NA19068.hp2 NA19070.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0006 others(1): Show a0001c0002 a0001c0003 a0001c0006 a0001c0010	a0001c0002t0013 a0001c0003t0002 a0001c0006t0001 others(1): Show a0001c0002t0013 a0001c0003t0002 a0001c0006t0001 a0001c0010t0002	a0001c0002t0013g0292 a0001c0003t0002g0091 a0001c0003t0002g0094 others(9): Show a0001c0002t0013g0292 a0001c0003t0002g0091 a0001c0003t0002g0094 a0001c0003t0002g0111 a0001c0003t0002g0119 a0001c0003t0002g0120 a0001c0003t0002g0122 a0001c0003t0002g0135 a0001c0006t0001g0107 a0001c0010t0002g0143 a0001c0010t0002g0146 a0001c0010t0002g0147	12	348	0.0345	18	c.204 others(35): Show c.2044-519_2044-502dupTATATATATATATATATA	DOCK9	ENSG00000088387.22	transcript	ENST00000682017.1	protein_coding	18/52			chr13	TogoVar
DOCK9_chr13_98788429_98983064	98951903	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01361.hp2 HG01516.hp1 others(2): Show HG01106.hp1 HG01361.hp2 HG01516.hp1 HG03239.hp2 HG03688.hp1	a0001 a0002 a0001 a0002	a0001c0018 a0002c0008 a0001c0018 a0002c0008	a0001c0018t0007 a0002c0008t0005 a0001c0018t0007 a0002c0008t0005	a0001c0018t0007g0004 a0002c0008t0005g0003 a0002c0008t0005g0006 others(2): Show a0001c0018t0007g0004 a0002c0008t0005g0003 a0002c0008t0005g0006 a0002c0008t0005g0007 a0002c0008t0005g0008	5	348	0.0144	18	c.243 others(35): Show c.243+3531_243+3532insAAAAAAAAAAAAAAAAAA	DOCK9	ENSG00000088387.22	transcript	ENST00000682017.1	protein_coding	2/52			chr13	TogoVar
DOCK9_chr13_98788429_98983064	98954863	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00621.hp2 HG00673.hp2 others(16): Show HG00408.hp1 HG00621.hp2 HG00673.hp2 HG02083.hp2 HG03710.hp2 NA18942.hp2 NA18943.hp2 NA18945.hp2 NA18953.hp1 NA18964.hp2 NA18971.hp2 NA18973.hp2 NA19005.hp2 NA19009.hp1 NA19054.hp2 NA19060.hp2 NA19066.hp2 NA19068.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0001t0003 a0001c0007t0002 a0001c0001t0002 a0001c0001t0003 a0001c0007t0002	a0001c0001t0002g0200 a0001c0001t0002g0287 a0001c0001t0003g0293 others(16): Show a0001c0001t0002g0200 a0001c0001t0002g0287 a0001c0001t0003g0293 a0001c0001t0003g0295 a0001c0001t0003g0299 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0319 a0001c0001t0003g0320 a0001c0001t0003g0326 a0001c0001t0003g0331 a0001c0001t0003g0333 a0001c0001t0003g0334 a0001c0001t0003g0335 a0001c0001t0003g0341 a0001c0001t0003g0342 a0001c0007t0002g0284	19	348	0.0546	18	c.243 others(33): Show c.243+554_243+571dupGTGTGTGTGTGTGTGTGT	DOCK9	ENSG00000088387.22	transcript	ENST00000682017.1	protein_coding	2/52			chr13	TogoVar
DOCK9_chr13_98788429_98983064	98979229	T T	TAGTAGTA others(11): Show TAGTAGTAGCAGCAGCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG01516.hp1 HG02300.hp2 others(3): Show HG01361.hp2 HG01516.hp1 HG02300.hp2 HG02602.hp2 HG03239.hp2 HG03688.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0018 a0002c0008 a0001c0003 a0001c0018 a0002c0008	a0001c0003t0007 a0001c0018t0007 a0002c0008t0005 a0001c0003t0007 a0001c0018t0007 a0002c0008t0005	a0001c0003t0007g0009 a0001c0018t0007g0004 a0002c0008t0005g0005 others(3): Show a0001c0003t0007g0009 a0001c0018t0007g0004 a0002c0008t0005g0005 a0002c0008t0005g0006 a0002c0008t0005g0007 a0002c0008t0005g0008	6	348	0.0172	18	c.-13 others(29): Show c.-1321_-1320insGCTGCTGCTGCTACTACT	DOCK9	ENSG00000088387.22	transcript	ENST00000682017.1	protein_coding		1166		chr13	TogoVar
DOCK9_chr13_98788429_98983064	98979229	T T	TAGTAGTA others(11): Show TAGTAGTAGTAGTAGTAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0109 a0001c0003t0002g0109	1	348	0.0029	18	c.-13 others(29): Show c.-1321_-1320insGCTACTACTACTACTACT	DOCK9	ENSG00000088387.22	transcript	ENST00000682017.1	protein_coding		1166		chr13	TogoVar
DOK3_chr5_177496904_177514826	177497008	G G	GGGAGGGG others(11): Show GGGAGGGGAGGGGAGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 HG04199.hp2 HG04184.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0002 a0001c0001t0004g0024 a0001c0001t0002g0002 a0001c0001t0004g0024	2	436	0.0046	18	c.69 others(29): Show c.6974_*6975insTCCCCTCCCCTCCCCTCC	DOK3	ENSG00000146094.16	transcript	ENST00000510898.7	protein_coding		4895		chr5	TogoVar
DOK4_chr16_57466922_57491493	57471735	T T	TGGTGGGG others(11): Show TGGTGGGGGTGGGGGTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG03486.hp2 HG03579.hp2 others(2): Show HG00609.hp1 HG03486.hp2 HG03579.hp2 NA18963.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 a0001c0001 a0001c0007 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0007t0003 a0002c0002t0002	a0001c0001t0002g0013 a0001c0001t0003g0158 a0001c0001t0011g0231 others(2): Show a0001c0001t0002g0013 a0001c0001t0003g0158 a0001c0001t0011g0231 a0001c0007t0003g0169 a0002c0002t0002g0165	5	410	0.0122	18	c.16 others(29): Show c.1624_*1641dupCCCACCCCCACCCCCACC	DOK4	ENSG00000125170.11	transcript	ENST00000340099.10	protein_coding		186		chr16	TogoVar
DOK4_chr16_57466922_57491493	57475693	T T	TCTCTCTC others(11): Show TCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG01433.hp2 HG00544.hp1 HG00544.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0111 a0001c0001t0002g0112 a0001c0001t0004g0067 a0001c0001t0001g0111 a0001c0001t0002g0112 a0001c0001t0004g0067	3	410	0.0073	18	c.175 others(31): Show c.175-74_175-73insGGAGAGAGAGAGAGAGAG	DOK4	ENSG00000125170.11	transcript	ENST00000340099.10	protein_coding	3/8			chr16	TogoVar
DOK5_chr20_54470593_54656169	54542099	T T	TACACACA others(11): Show TACACACAGACACACACAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02809.hp2 HG03540.hp2 others(1): Show HG02109.hp1 HG02809.hp2 HG03540.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0001t0021 a0001c0002t0015 a0001c0001t0012 a0001c0001t0021 a0001c0002t0015	a0001c0001t0012g0121 a0001c0001t0012g0122 a0001c0001t0021g0125 others(1): Show a0001c0001t0012g0121 a0001c0001t0012g0122 a0001c0001t0021g0125 a0001c0002t0015g0109	4	130	0.0308	18	c.67- others(35): Show c.67-12827_67-12826insGACACACACACACACACA	DOK5	ENSG00000101134.12	transcript	ENST00000262593.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
DOK5_chr20_54470593_54656169	54645925	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03139.hp1 HG02451.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0018 a0001c0001t0014 a0001c0001t0018	a0001c0001t0014g0089 a0001c0001t0018g0087 a0001c0001t0014g0089 a0001c0001t0018g0087	2	130	0.0154	18	c.856 others(35): Show c.856+2361_856+2378dupAAAAAAAAAAAAAAAAAA	DOK5	ENSG00000101134.12	transcript	ENST00000262593.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
DOK5_chr20_54470593_54656169	54646248	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	130	0.0077	18	c.856 others(35): Show c.856+2677_856+2694dupTTTTTTTTTTTTTTTTTT	DOK5	ENSG00000101134.12	transcript	ENST00000262593.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
DOK6_chr18_69395888_69854087	69412168	G G	GTTACACC others(11): Show GTTACACCATTTCTTGAAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01255.hp2 HG01243.hp1 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0043 a0001c0003t0056 a0001c0001t0043 a0001c0003t0056	a0001c0001t0043g0003 a0001c0003t0056g0002 a0001c0001t0043g0003 a0001c0003t0056g0002	2	170	0.0118	18	c.66+ others(35): Show c.66+10859_66+10860insTACACCATTTCTTGAATT	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DOK6_chr18_69395888_69854087	69435021	G G	GAGGGAGG others(11): Show GAGGGAGGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02735.hp2 HG02895.hp1 others(4): Show HG00544.hp1 HG02735.hp2 HG02895.hp1 HG03540.hp2 NA18968.hp2 NA18979.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0009 a0001c0001t0044 a0001c0001t0104 others(4): Show a0001c0001t0009 a0001c0001t0044 a0001c0001t0104 a0001c0002t0028 a0001c0003t0006 a0001c0003t0070 a0001c0005t0102	a0001c0001t0009g0103 a0001c0001t0044g0037 a0001c0001t0104g0090 others(4): Show a0001c0001t0009g0103 a0001c0001t0044g0037 a0001c0001t0104g0090 a0001c0002t0028g0156 a0001c0003t0006g0152 a0001c0003t0070g0120 a0001c0005t0102g0085	7	170	0.0412	18	c.66+ others(35): Show c.66+33711_66+33712insAGGGAGGGAAGGAAGGAA	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	1/7			chr18	TogoVar
DOK6_chr18_69395888_69854087	69435021	G G	GAGGGAGG others(11): Show GAGGGAGGGAGGGAAGGAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA20129.hp1 HG01243.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0015 a0001c0002t0079 a0001c0001t0015 a0001c0002t0079	a0001c0001t0015g0040 a0001c0002t0079g0050 a0001c0001t0015g0040 a0001c0002t0079g0050	2	170	0.0118	18	c.66+ others(35): Show c.66+33711_66+33712insAGGGAGGGAGGGAAGGAA	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	1/7			chr18	TogoVar
DOK6_chr18_69395888_69854087	69700216	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG00544.hp2 others(11): Show HG00423.hp1 HG00544.hp1 HG00544.hp2 HG01106.hp2 HG01496.hp1 HG01496.hp2 HG02735.hp1 HG04204.hp1 HG06807.hp2 NA18968.hp2 NA18983.hp2 NA19005.hp1 NA19043.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0003c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0064 a0001c0001t0072 a0001c0002t0007 a0001c0005t0102 a0003c0006t0050	a0001c0001t0001g0059 a0001c0001t0001g0146 a0001c0001t0001g0162 others(11): Show a0001c0001t0001g0059 a0001c0001t0001g0146 a0001c0001t0001g0162 a0001c0001t0004g0107 a0001c0001t0004g0137 a0001c0001t0007g0154 a0001c0001t0008g0151 a0001c0001t0009g0103 a0001c0001t0012g0097 a0001c0001t0064g0096 a0001c0001t0072g0073 a0001c0002t0007g0158 a0001c0005t0102g0085 a0003c0006t0050g0135	14	170	0.0824	18	c.599 others(35): Show c.599+1624_599+1641dupATATATATATATATATAT	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DOK6_chr18_69395888_69854087	69768954	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00738.hp2 HG01109.hp1 others(14): Show HG00323.hp2 HG00738.hp2 HG01109.hp1 HG02027.hp1 HG02280.hp1 HG02630.hp1 HG02698.hp1 HG02735.hp1 HG02738.hp2 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 NA18979.hp1 NA18979.hp2 NA19005.hp1 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0013 a0001c0001t0034 a0001c0001t0046 a0001c0001t0063 a0001c0001t0068 a0001c0002t0001 a0001c0002t0007 a0001c0002t0008 a0001c0003t0006 a0001c0003t0010 a0001c0003t0014 a0001c0003t0016 a0001c0003t0065 a0003c0006t0050	a0001c0001t0001g0146 a0001c0001t0002g0115 a0001c0001t0012g0097 others(14): Show a0001c0001t0001g0146 a0001c0001t0002g0115 a0001c0001t0012g0097 a0001c0001t0013g0110 a0001c0001t0034g0116 a0001c0001t0046g0104 a0001c0001t0063g0036 a0001c0001t0068g0001 a0001c0002t0001g0005 a0001c0002t0007g0142 a0001c0002t0008g0114 a0001c0003t0006g0152 a0001c0003t0010g0066 a0001c0003t0014g0024 a0001c0003t0016g0123 a0001c0003t0065g0012 a0003c0006t0050g0135	17	170	0.1000	18	c.856 others(37): Show c.856+11092_856+11109dupGTGTGTGTGTGTGTGTGT	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DOK6_chr18_69395888_69854087	69774133	G G	GATATATA others(11): Show GATATATATAGATATATAT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18971.hp2 NA18979.hp2 NA18966.hp2 NA18971.hp2 NA18979.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0046 a0002c0004t0019 a0001c0001t0046 a0002c0004t0019	a0001c0001t0046g0104 a0002c0004t0019g0083 a0002c0004t0019g0084 a0001c0001t0046g0104 a0002c0004t0019g0083 a0002c0004t0019g0084	3	170	0.0177	18	c.856 others(37): Show c.856+16269_856+16270insGATATATATATATATATA	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DOK6_chr18_69395888_69854087	69774133	G G	GATATATA others(11): Show GATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp2 HG00642.hp2 others(17): Show HG00423.hp1 HG00558.hp2 HG00642.hp2 HG00735.hp1 HG01074.hp2 HG01106.hp1 HG01255.hp2 HG02083.hp2 HG02145.hp2 HG02698.hp1 HG02735.hp2 HG02738.hp2 HG03688.hp2 HG03834.hp2 HG04199.hp1 HG06807.hp2 NA18960.hp2 NA19000.hp2 NA19079.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(15): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0001t0012 a0001c0001t0042 a0001c0001t0043 a0001c0001t0080 a0001c0001t0085 a0001c0002t0001 a0001c0002t0007 a0001c0002t0052 a0001c0002t0066 a0001c0002t0098 a0001c0002t0099 a0001c0003t0010 a0001c0003t0014 a0001c0003t0016 a0001c0003t0070	a0001c0001t0001g0059 a0001c0001t0001g0100 a0001c0001t0001g0162 others(17): Show a0001c0001t0001g0059 a0001c0001t0001g0100 a0001c0001t0001g0162 a0001c0001t0004g0107 a0001c0001t0011g0095 a0001c0001t0012g0144 a0001c0001t0042g0169 a0001c0001t0043g0003 a0001c0001t0080g0167 a0001c0001t0085g0127 a0001c0002t0001g0072 a0001c0002t0007g0124 a0001c0002t0052g0098 a0001c0002t0066g0164 a0001c0002t0098g0086 a0001c0002t0099g0091 a0001c0003t0010g0066 a0001c0003t0014g0024 a0001c0003t0016g0123 a0001c0003t0070g0120	20	170	0.1177	18	c.856 others(37): Show c.856+16266_856+16283dupTATATATATATATATATA	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DOK7_chr4_3458306_3499482	3491174	T T	TTCATTCC others(11): Show TTCATTCCTTCCCCCCTGC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0132	1	404	0.0025	18	c.772 others(35): Show c.772+1408_772+1425dupCCCCTGCTCATTCCTTCC	DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
DONSON_chr21_33572551_33593684	33580463	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0306 a0001c0001t0035g0306	1	426	0.0024	18	c.135 others(35): Show c.1350+821_1350+838dupTTTTTTTTTTTTTTTTTT	DONSON	ENSG00000159147.18	transcript	ENST00000303071.10	protein_coding	8/9			chr21	TogoVar
DONSON_chr21_33572551_33593684	33583200	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02886.hp2 HG04228.hp2 others(1): Show HG00735.hp2 HG02886.hp2 HG04228.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0062 a0001c0001t0083 others(1): Show a0001c0001t0054 a0001c0001t0062 a0001c0001t0083 a0001c0001t0122	a0001c0001t0054g0135 a0001c0001t0062g0215 a0001c0001t0083g0168 others(1): Show a0001c0001t0054g0135 a0001c0001t0062g0215 a0001c0001t0083g0168 a0001c0001t0122g0288	4	426	0.0094	18	c.964 others(33): Show c.964+270_964+287dupTTTTTTTTTTTTTTTTTT	DONSON	ENSG00000159147.18	transcript	ENST00000303071.10	protein_coding	5/9			chr21	TogoVar
DOP1B_chr21_36151824_36299274	36176087	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGCGTGTGT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0002 a0001c0026t0002	a0001c0026t0002g0010 a0001c0026t0002g0010	1	292	0.0034	18	c.138 others(37): Show c.138+11225_138+11226insTGCGTGTGTGTGTGTGTG	DOP1B	ENSG00000142197.13	transcript	ENST00000691173.1	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr21	TogoVar
DOP1B_chr21_36151824_36299274	36176087	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0177 a0001c0015t0001g0178 a0001c0015t0001g0177 a0001c0015t0001g0178	2	292	0.0069	18	c.138 others(37): Show c.138+11225_138+11226insTGTGTGTGTGTGTGTGTG	DOP1B	ENSG00000142197.13	transcript	ENST00000691173.1	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr21	TogoVar
DOP1B_chr21_36151824_36299274	36176097	C C	CGTGTGCG others(11): Show CGTGTGCGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG03710.hp2 HG01346.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0045 a0001c0002t0001g0046	2	292	0.0069	18	c.138 others(37): Show c.138+11231_138+11232insCGTGTGTGTGTGTGTGTG	DOP1B	ENSG00000142197.13	transcript	ENST00000691173.1	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr21	TogoVar
DOP1B_chr21_36151824_36299274	36176097	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG01069.hp2 others(18): Show HG00140.hp1 HG00639.hp1 HG01069.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG02055.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG03139.hp1 HG03831.hp2 NA19030.hp2 NA19091.hp1 NA20129.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0034 a0002c0004 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0001c0003t0001 a0001c0003t0004 a0001c0005t0001 a0001c0034t0001 a0002c0004t0001 a0004c0007t0001	a0001c0001t0001g0281 a0001c0001t0002g0062 a0001c0001t0006g0080 others(18): Show a0001c0001t0001g0281 a0001c0001t0002g0062 a0001c0001t0006g0080 a0001c0002t0001g0099 a0001c0002t0001g0276 a0001c0002t0001g0284 a0001c0003t0001g0175 a0001c0003t0001g0275 a0001c0003t0004g0097 a0001c0005t0001g0259 a0001c0005t0001g0263 a0001c0005t0001g0270 a0001c0005t0001g0271 a0001c0005t0001g0272 a0001c0005t0001g0273 a0001c0005t0001g0274 a0001c0034t0001g0261 a0002c0004t0001g0050 a0004c0007t0001g0087 a0004c0007t0001g0094 a0004c0007t0001g0095	21	292	0.0719	18	c.138 others(37): Show c.138+11234_138+11251dupTGTGTGTGTGTGTGTGTG	DOP1B	ENSG00000142197.13	transcript	ENST00000691173.1	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr21	TogoVar
DOP1B_chr21_36151824_36299274	36201345	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01069.hp2 HG01168.hp2 others(14): Show HG00140.hp1 HG01069.hp2 HG01168.hp2 HG01169.hp2 HG01516.hp2 HG02602.hp2 HG03239.hp1 HG03540.hp2 HG03669.hp1 HG03831.hp1 NA18942.hp2 NA18973.hp1 NA18987.hp2 NA19074.hp2 NA19090.hp2 NA20752.hp2 NA20805.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0020 a0021	a0001c0001 a0001c0002 a0003c0008 others(3): Show a0001c0001 a0001c0002 a0003c0008 a0004c0007 a0020c0037 a0021c0029	a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 a0003c0008t0001 a0003c0008t0002 a0004c0007t0001 a0020c0037t0001 a0021c0029t0001	a0001c0001t0001g0078 a0001c0001t0001g0085 a0001c0001t0001g0102 others(14): Show a0001c0001t0001g0078 a0001c0001t0001g0085 a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0001g0225 a0001c0001t0001g0241 a0001c0001t0008g0224 a0001c0002t0001g0269 a0003c0008t0001g0115 a0003c0008t0002g0041 a0004c0007t0001g0087 a0004c0007t0001g0091 a0004c0007t0001g0092 a0004c0007t0001g0094 a0004c0007t0001g0096 a0020c0037t0001g0077 a0021c0029t0001g0103	17	292	0.0582	18	c.491 others(33): Show c.491+847_491+864dupTTTTTTTTTTTTTTTTTT	DOP1B	ENSG00000142197.13	transcript	ENST00000691173.1	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr21	TogoVar
DOP1B_chr21_36151824_36299274	36242151	C C	CATTATTG others(11): Show CATTATTGTTATTATTATT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00621.hp1 HG00621.hp2 others(30): Show HG00609.hp1 HG00621.hp1 HG00621.hp2 HG01123.hp1 HG01516.hp1 HG01928.hp2 HG01975.hp1 HG01978.hp2 HG02040.hp2 HG02074.hp2 HG02083.hp2 HG02155.hp1 HG02451.hp2 HG02738.hp1 HG02886.hp2 HG03098.hp1 HG03654.hp1 HG03669.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG04184.hp2 HG04199.hp2 NA18942.hp1 NA18953.hp2 NA18959.hp2 NA18966.hp1 NA18966.hp2 NA18971.hp1 NA19011.hp2 NA19066.hp2 NA19087.hp2 NA19090.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0012 a0016 a0023	a0001c0002 a0002c0004 a0003c0008 others(4): Show a0001c0002 a0002c0004 a0003c0008 a0003c0012 a0012c0020 a0016c0041 a0023c0023	a0001c0002t0001 a0001c0002t0002 a0002c0004t0001 others(7): Show a0001c0002t0001 a0001c0002t0002 a0002c0004t0001 a0002c0004t0002 a0003c0008t0001 a0003c0008t0002 a0003c0012t0001 a0012c0020t0001 a0016c0041t0001 a0023c0023t0001	a0001c0002t0001g0045 a0001c0002t0001g0084 a0001c0002t0001g0099 others(30): Show a0001c0002t0001g0045 a0001c0002t0001g0084 a0001c0002t0001g0099 a0001c0002t0001g0107 a0001c0002t0001g0146 a0001c0002t0001g0155 a0001c0002t0001g0173 a0001c0002t0002g0038 a0002c0004t0001g0050 a0002c0004t0001g0121 a0002c0004t0001g0126 a0002c0004t0001g0150 a0002c0004t0001g0228 a0002c0004t0001g0244 a0002c0004t0001g0247 a0002c0004t0002g0007 a0002c0004t0002g0019 a0002c0004t0002g0020 a0002c0004t0002g0022 a0002c0004t0002g0028 a0002c0004t0002g0031 a0002c0004t0002g0066 a0002c0004t0002g0068 a0003c0008t0001g0109 a0003c0008t0001g0116 a0003c0008t0001g0125 a0003c0008t0001g0288 a0003c0008t0002g0035 a0003c0012t0001g0254 a0012c0020t0001g0153 a0012c0020t0001g0186 a0016c0041t0001g0277 a0023c0023t0001g0240	33	292	0.1130	18	c.306 others(37): Show c.3067+2202_3067+2203insGTTATTATTATTATTATT	DOP1B	ENSG00000142197.13	transcript	ENST00000691173.1	protein_coding	18/36		INFO_REALIGN_3_PRIME	chr21	TogoVar
DOP1B_chr21_36151824_36299274	36242151	C C	CATTATTG others(11): Show CATTATTGTTGTTATTATT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03942.hp1 NA18956.hp2 others(2): Show HG03490.hp1 HG03942.hp1 NA18956.hp2 NA18963.hp1 NA20752.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0020	a0001c0002 a0002c0004 a0003c0012 others(1): Show a0001c0002 a0002c0004 a0003c0012 a0020c0037	a0001c0002t0001 a0001c0002t0002 a0002c0004t0001 others(2): Show a0001c0002t0001 a0001c0002t0002 a0002c0004t0001 a0003c0012t0001 a0020c0037t0001	a0001c0002t0001g0079 a0001c0002t0002g0021 a0002c0004t0001g0117 others(2): Show a0001c0002t0001g0079 a0001c0002t0002g0021 a0002c0004t0001g0117 a0003c0012t0001g0104 a0020c0037t0001g0077	5	292	0.0171	18	c.306 others(37): Show c.3067+2202_3067+2203insGTTGTTATTATTATTATT	DOP1B	ENSG00000142197.13	transcript	ENST00000691173.1	protein_coding	18/36		INFO_REALIGN_3_PRIME	chr21	TogoVar
DOP1B_chr21_36151824_36299274	36257948	T T	TGTAGGTA others(11): Show TGTAGGTAGATGTAGGTAG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0021 a0021	a0021c0029 a0021c0029	a0021c0029t0001 a0021c0029t0001	a0021c0029t0001g0103 a0021c0029t0001g0103	1	292	0.0034	18	c.526 others(37): Show c.5260-2682_5260-2665dupGTAGGTAGGTAGGTAGAT	DOP1B	ENSG00000142197.13	transcript	ENST00000691173.1	protein_coding	23/36		INFO_REALIGN_3_PRIME	chr21	TogoVar
DOT1L_chr19_2158933_2237578	2200779	T T	TCATTCCT others(11): Show TCATTCCTCGTCCTCCCCG	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0100	1	378	0.0027	18	c.707 others(33): Show c.707+858_707+875dupGCATTCCTCGTCCTCCCC	DOT1L	ENSG00000104885.19	transcript	ENST00000398665.8	protein_coding	8/27		INFO_REALIGN_3_PRIME	chr19	TogoVar
DOT1L_chr19_2158933_2237578	2200932	A A	ATCCTCCC others(11): Show ATCCTCCCCGCATTCCTCG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02145.hp2 HG02257.hp2 others(3): Show HG00639.hp2 HG02145.hp2 HG02257.hp2 HG02559.hp2 HG02622.hp1 NA20805.hp2	a0001 a0002 a0013 a0001 a0002 a0013	a0001c0001 a0002c0004 a0002c0014 others(1): Show a0001c0001 a0002c0004 a0002c0014 a0013c0022	a0001c0001t0002 a0002c0004t0004 a0002c0014t0003 others(1): Show a0001c0001t0002 a0002c0004t0004 a0002c0014t0003 a0013c0022t0024	a0001c0001t0002g0257 a0002c0004t0004g0105 a0002c0004t0004g0106 others(3): Show a0001c0001t0002g0257 a0002c0004t0004g0105 a0002c0004t0004g0106 a0002c0014t0003g0314 a0002c0014t0003g0316 a0013c0022t0024g0311	6	378	0.0159	18	c.707 others(35): Show c.707+1020_707+1037dupGCATTCCTCGTCCTCCCC	DOT1L	ENSG00000104885.19	transcript	ENST00000398665.8	protein_coding	8/27		INFO_REALIGN_3_PRIME	chr19	TogoVar
DOT1L_chr19_2158933_2237578	2200971	C C	CTCCCCTC others(11): Show CTCCCCTCATTCCTCGTCG	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA19006.hp1 NA18950.hp1 NA19006.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0049 a0003c0002t0001g0274 a0003c0002t0001g0049 a0003c0002t0001g0274	2	378	0.0053	18	c.707 others(35): Show c.707+1050_707+1067dupGTCCCCTCATTCCTCGTC	DOT1L	ENSG00000104885.19	transcript	ENST00000398665.8	protein_coding	8/27		INFO_REALIGN_3_PRIME	chr19	TogoVar
DOT1L_chr19_2158933_2237578	2200995	T T	TCATTCCT others(11): Show TCATTCCTCGTCCTCCCCG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01261.hp2 HG04115.hp1 others(1): Show HG01175.hp2 HG01261.hp2 HG04115.hp1 NA19060.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0005 a0003c0002t0001 a0003c0002t0037 a0001c0001t0005 a0003c0002t0001 a0003c0002t0037	a0001c0001t0005g0132 a0003c0002t0001g0043 a0003c0002t0001g0051 others(1): Show a0001c0001t0005g0132 a0003c0002t0001g0043 a0003c0002t0001g0051 a0003c0002t0037g0076	4	378	0.0106	18	c.707 others(35): Show c.707+1109_707+1126dupCGCATTCCTCGTCCTCCC	DOT1L	ENSG00000104885.19	transcript	ENST00000398665.8	protein_coding	8/27		INFO_REALIGN_3_PRIME	chr19	TogoVar
DOT1L_chr19_2158933_2237578	2201085	T T	TCATTCCT others(11): Show TCATTCCTCGTCCTCCCCG	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0156	1	378	0.0027	18	c.707 others(35): Show c.707+1200_707+1217dupGCATTCCTCGTCCTCCCC	DOT1L	ENSG00000104885.19	transcript	ENST00000398665.8	protein_coding	8/27		INFO_REALIGN_3_PRIME	chr19	TogoVar
DOT1L_chr19_2158933_2237578	2201097	C C	CTCCCTGC others(11): Show CTCCCTGCATTCCTCGTCG	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02074.hp1 HG02109.hp1 HG01515.hp1 HG02074.hp1 HG02109.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0003c0002t0001 a0001c0001t0001 a0003c0002t0001	a0001c0001t0001g0068 a0003c0002t0001g0135 a0003c0002t0001g0181 a0001c0001t0001g0068 a0003c0002t0001g0135 a0003c0002t0001g0181	3	378	0.0079	18	c.707 others(35): Show c.707+1162_707+1163insTGCATTCCTCGTCGTCCC	DOT1L	ENSG00000104885.19	transcript	ENST00000398665.8	protein_coding	8/27		INFO_REALIGN_3_PRIME	chr19	TogoVar
DOT1L_chr19_2158933_2237578	2201103	G G	GCATTCCT others(11): Show GCATTCCTCGTCGTCCCCT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0182 a0003c0002t0001g0182	1	378	0.0027	18	c.707 others(35): Show c.707+1175_707+1176insGTCCCCTCATTCCTCGTC	DOT1L	ENSG00000104885.19	transcript	ENST00000398665.8	protein_coding	8/27		INFO_REALIGN_3_PRIME	chr19	TogoVar
DOT1L_chr19_2158933_2237578	2201157	T T	TCATTCCT others(11): Show TCATTCCTCGTCCTCCCCG	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02109.hp1 HG01515.hp1 HG02109.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0135 a0003c0002t0001g0181 a0003c0002t0001g0135 a0003c0002t0001g0181	2	378	0.0053	18	c.707 others(35): Show c.707+1236_707+1253dupGCATTCCTCGTCCTCCCC	DOT1L	ENSG00000104885.19	transcript	ENST00000398665.8	protein_coding	8/27		INFO_REALIGN_3_PRIME	chr19	TogoVar

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