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
DHRSX_chrX_2214506_2505976	2371404	A A	ATTACCAT others(14): Show ATTACCATAGACCCTCCTTTCG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02293.hp1 HG02300.hp1 others(4): Show HG01496.hp1 HG02293.hp1 HG02300.hp1 HG02698.hp1 HG02886.hp1 HG02922.hp1 NA18960.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0003c0016 a0006c0013	a0001c0001t0001 a0001c0001t0012 a0002c0002t0003 others(3): Show a0001c0001t0001 a0001c0001t0012 a0002c0002t0003 a0003c0003t0002 a0003c0016t0002 a0006c0013t0015	a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0012g0027 others(4): Show a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0012g0027 a0002c0002t0003g0042 a0003c0003t0002g0018 a0003c0016t0002g0040 a0006c0013t0015g0011	7	50	0.1400	21	c.286 others(40): Show c.286+37340_286+37341insCGAAAGGAGGGTCTATGGTAA	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2371404	A A	ATTACCAT others(14): Show ATTACCATAGACCGTCCTTCCG	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02630.hp2 HG02922.hp2 others(3): Show HG02074.hp1 HG02630.hp2 HG02922.hp2 NA18966.hp1 NA18971.hp1 NA19066.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0012 a0010c0015 a0001c0001 a0001c0012 a0010c0015	a0001c0001t0001 a0001c0012t0010 a0010c0015t0007 a0001c0001t0001 a0001c0012t0010 a0010c0015t0007	a0001c0001t0001g0006 a0001c0001t0001g0025 a0001c0001t0001g0026 others(3): Show a0001c0001t0001g0006 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0038 a0001c0012t0010g0015 a0010c0015t0007g0036	6	50	0.1200	21	c.286 others(40): Show c.286+37340_286+37341insCGGAAGGACGGTCTATGGTAA	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2371404	A A	ATTACCAT others(14): Show ATTACCATAGTCCCTCCTTCCG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0005 a0004c0014t0005	a0004c0014t0005g0007 a0004c0014t0005g0007	1	50	0.0200	21	c.286 others(40): Show c.286+37340_286+37341insCGGAAGGAGGGACTATGGTAA	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2371560	C C	CCCTCCTT others(14): Show CCCTCCTTCCATTACCATAGTA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02293.hp1 HG02300.hp1 others(4): Show HG01496.hp1 HG02293.hp1 HG02300.hp1 HG02698.hp1 HG02886.hp1 HG02922.hp1 NA18960.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0003c0016 a0006c0013	a0001c0001t0001 a0001c0001t0012 a0002c0002t0003 others(3): Show a0001c0001t0001 a0001c0001t0012 a0002c0002t0003 a0003c0003t0002 a0003c0016t0002 a0006c0013t0015	a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0012g0027 others(4): Show a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0012g0027 a0002c0002t0003g0042 a0003c0003t0002g0018 a0003c0016t0002g0040 a0006c0013t0015g0011	7	50	0.1400	21	c.286 others(40): Show c.286+37164_286+37184dupTACTATGGTAATGGAAGGAGG	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHTKD1_chr10_12063954_12128221	12100287	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00621.hp1 HG00735.hp1 others(8): Show HG00140.hp1 HG00621.hp1 HG00735.hp1 HG01168.hp2 HG01891.hp2 HG01928.hp2 HG01981.hp1 HG02145.hp2 HG02293.hp1 NA19000.hp2 NA20905.hp1	a0000 a0001 a0009 a0000 a0001 a0009	a0000c0016 a0001c0001 a0009c0015 a0000c0016 a0001c0001 a0009c0015	a0000c0016t0021 a0001c0001t0001 a0001c0001t0003 others(5): Show a0000c0016t0021 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 a0001c0001t0018 a0001c0001t0030 a0009c0015t0010	a0000c0016t0021g0265 a0001c0001t0001g0002 a0001c0001t0001g0103 others(7): Show a0000c0016t0021g0265 a0001c0001t0001g0002 a0001c0001t0001g0103 a0001c0001t0001g0300 a0001c0001t0003g0328 a0001c0001t0005g0334 a0001c0001t0012g0112 a0001c0001t0018g0357 a0001c0001t0030g0100 a0009c0015t0010g0202	11	374	0.0294	21	c.175 others(36): Show c.1756+39_1756+40insTTTTTTTTTTTTTTTTTTTTT	DHTKD1	ENSG00000181192.12	transcript	ENST00000263035.9	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
DHX15_chr4_24522475_24589554	24550094	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	374	0.0027	21	c.108 others(40): Show c.1081-1093_1081-1073dupTTTTTTTTTTTTTTTTTTTTT	DHX15	ENSG00000109606.13	transcript	ENST00000336812.5	protein_coding	5/13			chr4	TogoVar
DHX15_chr4_24522475_24589554	24574205	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	374	0.0027	21	c.507 others(38): Show c.507+2017_507+2037dupTTTTTTTTTTTTTTTTTTTTT	DHX15	ENSG00000109606.13	transcript	ENST00000336812.5	protein_coding	2/13			chr4	TogoVar
DHX57_chr2_38792729_38880934	38837611	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03209.hp1 HG04115.hp2 others(1): Show HG02738.hp1 HG03209.hp1 HG04115.hp2 NA18956.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0001 a0002c0002t0004	a0002c0002t0001g0037 a0002c0002t0001g0050 a0002c0002t0001g0065 others(1): Show a0002c0002t0001g0037 a0002c0002t0001g0050 a0002c0002t0001g0065 a0002c0002t0004g0276	4	284	0.0141	21	c.254 others(38): Show c.2542+219_2542+220insTTTTTTTTTTTTTTTTTTTTT	DHX57	ENSG00000163214.21	transcript	ENST00000457308.6	protein_coding	13/23			chr2	TogoVar
DHX8_chr17_43478975_43530670	43511456	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0215 a0001c0001t0003g0215	1	354	0.0028	21	c.250 others(40): Show c.2503-1887_2503-1886insTTTTTTTTTTTTTTTTTTTTT	DHX8	ENSG00000067596.12	transcript	ENST00000262415.8	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
DIAPH2_chrX_96679842_97609997	96807944	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03492.hp1 NA20752.hp1 HG03492.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0109 a0001c0001t0005g0040 a0001c0001t0002g0109 a0001c0001t0005g0040	2	147	0.0136	21	c.447 others(40): Show c.447+49705_447+49725dupAAAAAAAAAAAAAAAAAAAAA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	4/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	96836718	T T	TATATATA others(14): Show TATATATACATATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0136 a0001c0003t0001g0136	1	147	0.0068	21	c.448 others(40): Show c.448-44861_448-44860insATATATACATATATATATATA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	4/26			chrX	TogoVar
DIAPH2_chrX_96679842_97609997	96939668	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	147	0.0068	21	c.132 others(38): Show c.1325+300_1325+301insTTTTTTTTTTTTTTTTTTTTT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	12/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97047542	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0136 a0001c0003t0001g0136	1	147	0.0068	21	c.205 others(42): Show c.2051-25392_2051-25372dupTTTTTTTTTTTTTTTTTTTTT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	17/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97300931	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01981.hp1 HG01943.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0122 a0001c0001t0002g0103 a0001c0001t0001g0122 a0001c0001t0002g0103	2	147	0.0136	21	c.284 others(42): Show c.2845-47171_2845-47151dupAAAAAAAAAAAAAAAAAAAAA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	23/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH3_chr13_59660583_60168928	59802667	A A	ATTATTAT others(14): Show ATTATTATTATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0046 a0002c0003t0002g0046	1	208	0.0048	21	c.316 others(40): Show c.3163+8120_3163+8121insAAAAAAAAAAAATAATAATAA	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	25/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	60125394	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0204 a0001c0013t0001g0204	1	208	0.0048	21	c.213 others(38): Show c.213+7542_213+7562dupAAAAAAAAAAAAAAAAAAAAA	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	2/27			chr13	TogoVar
DIDO1_chr20_62872743_62931505	62929692	A A	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG03516.hp2 HG01891.hp2 HG03516.hp2	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0001 a0008c0014t0001	a0008c0014t0001g0033 a0008c0014t0001g0034 a0008c0014t0001g0033 a0008c0014t0001g0034	2	320	0.0063	21	c.-34 others(32): Show c.-3454_-3453insATATATATATATATTTTTTTT	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		3188		chr20	TogoVar
DIP2A_chr21_46453891_46575015	46495240	T T	TCTCTCTC others(14): Show TCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0361 a0001c0003t0003g0361	1	374	0.0027	21	c.284 others(38): Show c.284-1748_284-1747insCTCTCTCTCTCTCTCTCTCTC	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	3/37			chr21	TogoVar
DIP2A_chr21_46453891_46575015	46519855	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0015 a0001c0013t0015	a0001c0013t0015g0172 a0001c0013t0015g0172	1	374	0.0027	21	c.110 others(40): Show c.1102+8258_1102+8278dupTTTTTTTTTTTTTTTTTTTTT	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	8/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2A_chr21_46453891_46575015	46527011	C C	CTTAATGT others(14): Show CTTAATGTGTTTAAGTTTGTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03041.hp2 HG03453.hp1 others(2): Show HG02630.hp1 HG03041.hp2 HG03453.hp1 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0021 a0001c0005t0004 a0001c0005t0021	a0001c0005t0004g0283 a0001c0005t0004g0284 a0001c0005t0004g0287 others(2): Show a0001c0005t0004g0283 a0001c0005t0004g0284 a0001c0005t0004g0287 a0001c0005t0021g0285 a0001c0005t0021g0286	5	374	0.0134	21	c.110 others(40): Show c.1103-2081_1103-2080insTTAATGTGTTTAAGTTTGTTT	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	8/37			chr21	TogoVar
DIP2A_chr21_46453891_46575015	46573645	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01070.hp1 HG01071.hp1 others(1): Show HG00735.hp2 HG01070.hp1 HG01071.hp1 NA18954.hp2	a0001 a0001	a0001c0005 a0001c0007 a0001c0005 a0001c0007	a0001c0005t0003 a0001c0007t0005 a0001c0005t0003 a0001c0007t0005	a0001c0005t0003g0322 a0001c0007t0005g0155 a0001c0007t0005g0156 others(1): Show a0001c0005t0003g0322 a0001c0007t0005g0155 a0001c0007t0005g0156 a0001c0007t0005g0158	4	374	0.0107	21	c.60 others(32): Show c.6023_*6024insAAAAAAAAAAAAAAAAAAAAA	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding		3631		chr21	TogoVar
DIP2B_chr12_50499985_50753657	50501219	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG01168.hp2 HG01192.hp2 others(15): Show HG00099.hp1 HG01168.hp2 HG01192.hp2 HG01255.hp1 HG02155.hp2 HG02717.hp2 HG02818.hp2 HG03041.hp2 HG03225.hp2 HG03453.hp2 HG03491.hp1 HG03834.hp2 NA18522.hp1 NA18942.hp2 NA18993.hp1 NA18999.hp2 NA19043.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0030 a0001c0002t0003 a0001c0002t0004 a0001c0002t0030	a0001c0002t0003g0202 a0001c0002t0003g0203 a0001c0002t0003g0220 others(15): Show a0001c0002t0003g0202 a0001c0002t0003g0203 a0001c0002t0003g0220 a0001c0002t0003g0231 a0001c0002t0003g0232 a0001c0002t0003g0247 a0001c0002t0003g0249 a0001c0002t0003g0263 a0001c0002t0003g0264 a0001c0002t0003g0267 a0001c0002t0003g0268 a0001c0002t0004g0183 a0001c0002t0004g0185 a0001c0002t0004g0217 a0001c0002t0004g0229 a0001c0002t0004g0230 a0001c0002t0004g0271 a0001c0002t0030g0188	18	284	0.0634	21	c.-39 others(32): Show c.-3922_-3921insAAAAAAAAAAAAAAAAAAAAA	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding		3765		chr12	TogoVar
DIP2B_chr12_50499985_50753657	50505001	T T	TGGCGGCG others(14): Show TGGCGGCGGCGGCGGCGGCGGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00140.hp2 HG01243.hp2 HG01517.hp1 HG00140.hp2 HG01243.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0079 a0001c0001t0011g0080 a0001c0001t0011g0097 a0001c0001t0011g0079 a0001c0001t0011g0080 a0001c0001t0011g0097	3	284	0.0106	21	c.-13 others(30): Show c.-137_-117dupCGGCGGCGGCGGCGGCGGCGG	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/38	116	INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50716958	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02074.hp1 HG02155.hp1 others(1): Show HG01257.hp2 HG02074.hp1 HG02155.hp1 HG02615.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0017 a0001c0001 a0006c0017	a0001c0001t0001 a0006c0017t0001 a0001c0001t0001 a0006c0017t0001	a0001c0001t0001g0144 a0001c0001t0001g0156 a0001c0001t0001g0157 others(1): Show a0001c0001t0001g0144 a0001c0001t0001g0156 a0001c0001t0001g0157 a0006c0017t0001g0138	4	284	0.0141	21	c.285 others(40): Show c.2852-1748_2852-1728dupTTTTTTTTTTTTTTTTTTTTT	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	23/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	358622	G G	GTGGGAGG others(14): Show GTGGGAGGTGGGGGACGGGGGA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00738.hp2 HG01975.hp2 others(10): Show HG00621.hp2 HG00738.hp2 HG01975.hp2 HG02040.hp2 HG02132.hp1 HG02155.hp2 HG02165.hp1 HG02280.hp1 HG03130.hp2 HG03225.hp2 HG03942.hp1 NA18906.hp2 NA18962.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0007 others(3): Show a0001c0002 a0001c0005 a0001c0007 a0001c0010 a0001c0015 a0001c0023	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(5): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0005t0002 a0001c0007t0007 a0001c0010t0002 a0001c0015t0002 a0001c0023t0003	a0001c0002t0001g0056 a0001c0002t0001g0066 a0001c0002t0001g0080 others(10): Show a0001c0002t0001g0056 a0001c0002t0001g0066 a0001c0002t0001g0080 a0001c0002t0002g0055 a0001c0002t0002g0067 a0001c0002t0003g0029 a0001c0002t0003g0047 a0001c0002t0003g0059 a0001c0005t0002g0010 a0001c0007t0007g0060 a0001c0010t0002g0001 a0001c0015t0002g0083 a0001c0023t0003g0071	13	88	0.1477	21	c.279 others(38): Show c.2795-706_2795-686dupTCCCCCGTCCCCCACCTCCCA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	22/36			chr10	TogoVar
DIP2C_chr10_269201_694668	358663	G G	GTGGGAGG others(14): Show GTGGGAGGTGGGGGACGGGGGA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0044 a0001c0014t0001g0044	1	88	0.0114	21	c.279 others(38): Show c.2795-747_2795-727dupTCCCCCGTCCCCCACCTCCCA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	22/36			chr10	TogoVar
DIP2C_chr10_269201_694668	429272	C C	CCCCCCCG others(14): Show CCCCCCCGGGCCCTGGCTGCCT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0058 a0001c0006t0002g0058	1	88	0.0114	21	c.395 others(38): Show c.395-6240_395-6239insAGGCAGCCAGGGCCCGGGGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	4/36			chr10	TogoVar
DIP2C_chr10_269201_694668	429404	C C	CCCCCCCG others(14): Show CCCCCCCGGGCCCTGGCTGCCT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02155.hp2 HG03942.hp1 HG01099.hp1 HG02155.hp2 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0013 a0001c0023 a0001c0002 a0001c0013 a0001c0023	a0001c0002t0003 a0001c0013t0002 a0001c0023t0003 a0001c0002t0003 a0001c0013t0002 a0001c0023t0003	a0001c0002t0003g0029 a0001c0013t0002g0035 a0001c0023t0003g0071 a0001c0002t0003g0029 a0001c0013t0002g0035 a0001c0023t0003g0071	3	88	0.0341	21	c.395 others(38): Show c.395-6372_395-6371insAGGCAGCCAGGGCCCGGGGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	4/36			chr10	TogoVar
DIP2C_chr10_269201_694668	524967	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18747.hp2 NA19081.hp1 HG02132.hp2 NA18747.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0003t0002g0021 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0003t0002g0021	3	88	0.0341	21	c.86- others(38): Show c.86-38438_86-38437insTTTTTTTTTTTTTTTTTTTTT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	565354	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03453.hp2 HG02809.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0001 a0001c0001t0002 a0001c0005t0001	a0001c0001t0002g0004 a0001c0005t0001g0009 a0001c0001t0002g0004 a0001c0005t0001g0009	2	88	0.0227	21	c.86- others(38): Show c.86-78825_86-78824insTTTTTTTTTTTTTTTTTTTTT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608431	C C	CCACACAC others(14): Show CCACACACCCCCAGCCCCCCCA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	88	0.0114	21	c.85+ others(38): Show c.85+81062_85+81063insTGGGGGGGCTGGGGGTGTGTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608438	C C	CCCCCAGC others(14): Show CCCCCAGCCCCCCCCACACACA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	88	0.0114	21	c.85+ others(38): Show c.85+81055_85+81056insTGTGTGTGGGGGGGGCTGGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608499	C C	CCCACACA others(14): Show CCCACACACACCCCCCCCCCCA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0060 a0001c0007t0007g0060	1	88	0.0114	21	c.85+ others(38): Show c.85+80994_85+80995insTGGGGGGGGGGGTGTGTGTGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608701	C C	CACACACA others(14): Show CACACACACACACATCCCCCCA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03579.hp1 NA19007.hp1 HG03453.hp2 HG03579.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0002t0001 a0001c0003t0002 a0001c0001t0002 a0001c0002t0001 a0001c0003t0002	a0001c0001t0002g0004 a0001c0002t0001g0061 a0001c0003t0002g0032 a0001c0001t0002g0004 a0001c0002t0001g0061 a0001c0003t0002g0032	3	88	0.0341	21	c.85+ others(38): Show c.85+80792_85+80793insTGGGGGGATGTGTGTGTGTGT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608701	C C	CCCACACA others(14): Show CCCACACACACACATCCCCCCA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0037 a0001c0003t0002g0037	1	88	0.0114	21	c.85+ others(38): Show c.85+80792_85+80793insTGGGGGGATGTGTGTGTGTGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	691405	G G	GGAAGACC others(14): Show GGAAGACCAACCAGGGAACGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0086 a0001c0004t0001g0086	1	88	0.0114	21	c.-18 others(32): Show c.-1828_-1827insAGCGTTCCCTGGTTGGTCTTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding		1738		chr10	TogoVar
DIPK1A_chr1_92837167_92966462	92959902	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02559.hp2 HG00408.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0008 a0001c0001t0002g0009	2	200	0.0100	21	c.54+ others(36): Show c.54+1473_54+1474insAAAAAAAAAAAAAAAAAAAAA	DIPK1A	ENSG00000154511.12	transcript	ENST00000370310.5	protein_coding	1/4			chr1	TogoVar
DIPK2A_chr3_143966823_143997368	143967802	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02717.hp2 HG02738.hp2 others(2): Show HG02630.hp1 HG02717.hp2 HG02738.hp2 HG02886.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0006 a0001c0002t0002 a0001c0001t0002 a0001c0001t0006 a0001c0002t0002	a0001c0001t0002g0166 a0001c0001t0006g0051 a0001c0001t0006g0251 others(1): Show a0001c0001t0002g0166 a0001c0001t0006g0051 a0001c0001t0006g0251 a0001c0002t0002g0208	5	408	0.0123	21	c.-45 others(32): Show c.-4531_-4530insTTTTTTTTTTTTTTTTTTTTT	DIPK2A	ENSG00000181744.9	transcript	ENST00000315691.8	protein_coding		4020		chr3	TogoVar
DIPK2A_chr3_143966823_143997368	143976584	G G	GAGAGAGA others(14): Show GAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0258 a0001c0001t0015g0258	1	408	0.0025	21	c.657 others(38): Show c.657+3596_657+3597insGAGAGAGAGAGAGAGAGAGAA	DIPK2A	ENSG00000181744.9	transcript	ENST00000315691.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
DIRAS3_chr1_68040962_68055627	68048049	A A	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	376	0.0027	21	c.-65 others(36): Show c.-65-688_-65-687insATATATATATATATATTTTTT	DIRAS3	ENSG00000162595.8	transcript	ENST00000646789.1	protein_coding	1/1			chr1	TogoVar
DIS3L2_chr2_231956713_232342192	232159667	T T	TGAAATTG others(14): Show TGAAATTGGTGAAATTGGTGAA	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA19000.hp1 NA19060.hp1 HG02056.hp1 NA19000.hp1 NA19060.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0005c0015 a0001c0002 a0005c0015	a0001c0002t0001 a0005c0015t0001 a0001c0002t0001 a0005c0015t0001	a0001c0002t0001g0036 a0001c0002t0001g0063 a0005c0015t0001g0026 a0001c0002t0001g0036 a0001c0002t0001g0063 a0005c0015t0001g0026	3	304	0.0099	21	c.951 others(38): Show c.951-3792_951-3791insGAAATTGGTGAAATTGGTGAA	DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	8/20			chr2	TogoVar
DIS3L2_chr2_231956713_232342192	232333149	A A	ACCTCCTC others(14): Show ACCTCCTCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	304	0.0033	21	c.201 others(38): Show c.2011-682_2011-681insCCTCCTCCTCCTCCTCCTCCT	DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIS3L2_chr2_231956713_232342192	232333176	G G	GCCTCCTC others(14): Show GCCTCCTCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03041.hp2 NA21309.hp1 HG02809.hp2 HG03041.hp2 NA21309.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0201 a0002c0005t0002g0202 a0002c0005t0002g0215 a0002c0005t0002g0201 a0002c0005t0002g0202 a0002c0005t0002g0215	3	304	0.0099	21	c.201 others(38): Show c.2011-640_2011-620dupTCCTCCTCCTCCTCCTCCTCC	DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIS3L2_chr2_231956713_232342192	232333227	G G	GCCTCCTC others(14): Show GCCTCCTCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01074.hp1 HG02976.hp1 others(1): Show HG00733.hp2 HG01074.hp1 HG02976.hp1 HG04184.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0001 a0001c0001t0004 a0002c0008t0008 a0001c0001t0001 a0001c0001t0004 a0002c0008t0008	a0001c0001t0001g0259 a0001c0001t0004g0010 a0002c0008t0008g0194 others(1): Show a0001c0001t0001g0259 a0001c0001t0004g0010 a0002c0008t0008g0194 a0002c0008t0008g0195	4	304	0.0132	21	c.201 others(38): Show c.2011-604_2011-584dupTCCTCCTCCTCCTCCTCCTCC	DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIS3L2_chr2_231956713_232342192	232333239	T T	TCCTCCTC others(14): Show TCCTCCTCCTCCTCCGCTGTCG	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	304	0.0033	21	c.201 others(38): Show c.2011-587_2011-586insGCTGTCGCCTCCTCCTCCTCC	DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIS3L2_chr2_231956713_232342192	232333261	T T	TCGCCTCC others(14): Show TCGCCTCCTCCTCCTCCTCTGC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03471.hp1 HG02486.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0119 a0001c0001t0001g0120	2	304	0.0066	21	c.201 others(38): Show c.2011-577_2011-557dupGCCTCCTCCTCCTCCTCTGCC	DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0106 a0001c0001t0003g0106	1	400	0.0025	21	c.558 others(36): Show c.558+251_558+252insAAAAAAAAAAATATATATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(14): Show AAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA18906.hp2 HG02572.hp1 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0015 a0001c0003 a0001c0015	a0001c0003t0004 a0001c0015t0004 a0001c0003t0004 a0001c0015t0004	a0001c0003t0004g0150 a0001c0015t0004g0149 a0001c0003t0004g0150 a0001c0015t0004g0149	2	400	0.0050	21	c.558 others(36): Show c.558+251_558+252insAAAAAAAAATATATATATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0349 a0001c0001t0006g0349	1	400	0.0025	21	c.558 others(36): Show c.558+251_558+252insAAAAATATATATATATATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DISP1_chr1_222810039_223010995	222814909	T T	TCGCCCGC others(14): Show TCGCCCGCCGCCCGCCGCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01433.hp2 HG01884.hp2 others(8): Show HG01106.hp1 HG01433.hp2 HG01884.hp2 HG02055.hp2 HG02109.hp2 HG02622.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03098.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0009 a0012 a0014	a0001c0001 a0001c0002 a0002c0009 others(5): Show a0001c0001 a0001c0002 a0002c0009 a0003c0015 a0004c0010 a0009c0021 a0012c0045 a0014c0035	a0001c0001t0001 a0001c0002t0001 a0002c0009t0001 others(5): Show a0001c0001t0001 a0001c0002t0001 a0002c0009t0001 a0003c0015t0001 a0004c0010t0001 a0009c0021t0001 a0012c0045t0001 a0014c0035t0001	a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 others(8): Show a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0002t0001g0252 a0001c0002t0001g0284 a0002c0009t0001g0239 a0003c0015t0001g0167 a0004c0010t0001g0237 a0009c0021t0001g0236 a0012c0045t0001g0238 a0014c0035t0001g0231	11	348	0.0316	21	c.-32 others(30): Show c.-328_-327insCGCCCGCCGCCCGCCGCCCGC	DISP1	ENSG00000154309.9	transcript	ENST00000675850.1	protein_coding		129		chr1	TogoVar

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