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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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
DOCK1_chr10_126900428_127457516	126947507	T T	TTGGTGGT others(30): Show TTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGG	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0002 a0002	a0002c0045 a0002c0045	a0002c0045t0002 a0002c0045t0002	a0002c0045t0002g0029 a0002c0045t0002g0029	1	136	0.0074	37	c.47- others(54): Show c.47-23187_47-23186insATGGTGGTGGTTGGTAGTATTACTGTTG GTGGTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126947513	G G	GTGATGGT others(30): Show GTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02486.hp2 HG01109.hp1 HG02486.hp2	a0001 a0001	a0001c0005 a0001c0009 a0001c0005 a0001c0009	a0001c0005t0001 a0001c0009t0002 a0001c0005t0001 a0001c0009t0002	a0001c0005t0001g0111 a0001c0009t0002g0110 a0001c0005t0001g0111 a0001c0009t0002g0110	2	136	0.0147	37	c.47- others(54): Show c.47-23187_47-23186insATGGTGGTGGTTGGTAGTATTACTGTTG GTGGTGATG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126947581	G G	GTGGTGGT others(30): Show GTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0099 a0001c0002t0008g0099	1	136	0.0074	37	c.47- others(54): Show c.47-23111_47-23110insGGTTGGTAGTATTACTGTTGGTGGTGAT GGTGGTGGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126947606	T T	TTGGTGGT others(30): Show TTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02738.hp1 HG02683.hp2 HG02738.hp1	a0001 a0002 a0001 a0002	a0001c0016 a0002c0017 a0001c0016 a0002c0017	a0001c0016t0005 a0002c0017t0002 a0001c0016t0005 a0002c0017t0002	a0001c0016t0005g0067 a0002c0017t0002g0136 a0001c0016t0005g0067 a0002c0017t0002g0136	2	136	0.0147	37	c.47- others(54): Show c.47-23091_47-23090insGTGATGGTGGTGGTTGGTAGTATTACTG TTGGTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126947606	T T	TTGGTGGT others(30): Show TTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0041 a0001c0006t0001g0041	1	136	0.0074	37	c.47- others(54): Show c.47-23091_47-23090insGTGGTGGTGGTGGTTGGTAGTATTACTG TTGGTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126947680	A A	ATGGTGGT others(30): Show ATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0074 a0002c0074	a0002c0074t0001 a0002c0074t0001	a0002c0074t0001g0107 a0002c0074t0001g0107	1	136	0.0074	37	c.47- others(54): Show c.47-23015_47-23014insGGTTGGTAGTATTACTGTTGGTGGTGAT GGTGGTGGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126947906	T T	TTGGTGGT others(30): Show TTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0066 a0003c0003t0004g0066	1	136	0.0074	37	c.47- others(54): Show c.47-22791_47-22790insGTGGTGGTGGTGGTTGGTAGTATTACTG TTGGTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126947946	G G	GTGGTGGT others(30): Show GTGGTGGTGGTGGTTGGTAGCATTACTGTTGTTGGTGA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0090 a0001c0002t0001g0090	1	136	0.0074	37	c.47- others(54): Show c.47-22746_47-22745insGGTTGGTAGCATTACTGTTGTTGGTGAT GGTGGTGGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126948150	A A	ATGGTGGT others(30): Show ATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0005 a0005	a0005c0066 a0005c0066	a0005c0066t0003 a0005c0066t0003	a0005c0066t0003g0073 a0005c0066t0003g0073	1	136	0.0074	37	c.47- others(54): Show c.47-22519_47-22518insGTGGTGGTGGTGGTTGGTAGTATTACTG TTGGTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126948181	G G	GTGGTGGT others(30): Show GTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0066 a0003c0003t0004g0066	1	136	0.0074	37	c.47- others(54): Show c.47-22519_47-22518insGTGGTGGTGGTTGGTAGTATTACTGTTG GTGGTGATG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126948184	A A	ATGGTGGT others(30): Show ATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0055 a0002c0055	a0002c0055t0001 a0002c0055t0001	a0002c0055t0001g0098 a0002c0055t0001g0098	1	136	0.0074	37	c.47- others(54): Show c.47-22511_47-22510insGGTTGGTAGTATTACTGTTGGTGGTGAT GGTGGTGGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126948189	G G	GGTGGTTG others(30): Show GGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0004 a0004	a0004c0051 a0004c0051	a0004c0051t0003 a0004c0051t0003	a0004c0051t0003g0026 a0004c0051t0003g0026	1	136	0.0074	37	c.47- others(54): Show c.47-22511_47-22510insGGTTGGTAGTATTACTGTTGGTGGTGAT GGTGGTAGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126948215	A A	ATGGTGGT others(30): Show ATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0054 a0001c0004t0010g0054	1	136	0.0074	37	c.47- others(54): Show c.47-22454_47-22453insGTGGTGGTGGTGGTTGGTAGTATTACTG TTGGTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126948419	A A	ATGGTGGT others(30): Show ATGGTGGTGGTTGGTAATATTACTGTTGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	136	0.0074	37	c.47- others(54): Show c.47-22273_47-22272insTGGTAATATTACTGTTGGTGGTGGTGGT GGTGGTGGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126948419	A A	ATGGTGGT others(30): Show ATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18971.hp1 NA18960.hp2 NA18971.hp1	a0001 a0001	a0001c0008 a0001c0041 a0001c0008 a0001c0041	a0001c0008t0015 a0001c0041t0002 a0001c0008t0015 a0001c0041t0002	a0001c0008t0015g0039 a0001c0041t0002g0103 a0001c0008t0015g0039 a0001c0041t0002g0103	2	136	0.0147	37	c.47- others(54): Show c.47-22273_47-22272insTGGTAGTATTACTGTTGGTGGTGGTGGT GGTGGTGGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	127093214	C C	CTTTCTTT others(30): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0014 a0003c0003t0003g0014	1	136	0.0074	37	c.244 others(58): Show c.2446-13010_2446-13009insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTTCTTT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	23/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK3_chr3_50669927_51389198	50670950	G G	GCCTTCAA others(30): Show GCCTTCAAGCCCTTGATTAGCACCTTGAGTTACAAGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	212	0.0047	37	c.-43 others(48): Show c.-4314_-4313insCCTTCAAGCCCTTGATTAGCACCTTGAGTTACAA GCT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding		3976		chr3	TogoVar
DOCK3_chr3_50669927_51389198	51016215	A A	ATATATGA others(30): Show ATATATGATATATATATCATATTTTCTATATAATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02486.hp1 NA18944.hp2 others(1): Show HG01257.hp1 HG02486.hp1 NA18944.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0124 a0001c0001t0001g0145 others(1): Show a0001c0001t0001g0093 a0001c0001t0001g0124 a0001c0001t0001g0145 a0001c0001t0001g0149	4	212	0.0189	37	c.316 others(56): Show c.316-48233_316-48232insTATATGATATATATATCATATTTTCT ATATAATATAT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52			chr3	TogoVar
DOCK3_chr3_50669927_51389198	51016556	T T	TTATATAT others(30): Show TTATATATATATTTATATATATCATATATTATATATGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02004.hp1 HG00099.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0131 a0001c0001t0001g0121 a0001c0001t0001g0131	2	212	0.0094	37	c.316 others(56): Show c.316-47892_316-47891insTATATATATATTTATATATATCATAT ATTATATATGA	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52			chr3	TogoVar
DOCK4_chr7_111721110_112211399	111762762	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0063 a0001c0002t0005g0063	1	106	0.0094	37	c.402 others(56): Show c.4020+2355_4020+2356insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	DOCK4	ENSG00000128512.24	transcript	ENST00000428084.6	protein_coding	39/52			chr7	TogoVar
DOCK6_chr19_11194295_11267524	11211558	C C	CCCTGTCC others(30): Show CCCTGTCCCCCTCACCTGTCTGCTCAGCCGTCTGCTCA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01070.hp1 HG01071.hp1 others(16): Show HG00621.hp2 HG01070.hp1 HG01071.hp1 HG01496.hp2 HG01993.hp1 HG02129.hp1 HG02523.hp1 HG02738.hp1 HG03130.hp1 NA18981.hp1 NA18993.hp2 NA18998.hp2 NA19007.hp2 NA19011.hp1 NA19056.hp2 NA19057.hp2 NA19066.hp1 NA19070.hp2 NA19085.hp2	a0002 a0004 a0006 others(1): Show a0002 a0004 a0006 a0009	a0002c0001 a0004c0006 a0006c0013 others(1): Show a0002c0001 a0004c0006 a0006c0013 a0009c0021	a0002c0001t0001 a0004c0006t0001 a0006c0013t0001 others(1): Show a0002c0001t0001 a0004c0006t0001 a0006c0013t0001 a0009c0021t0001	a0002c0001t0001g0129 a0004c0006t0001g0182 a0004c0006t0001g0201 others(16): Show a0002c0001t0001g0129 a0004c0006t0001g0182 a0004c0006t0001g0201 a0004c0006t0001g0210 a0004c0006t0001g0211 a0004c0006t0001g0212 a0004c0006t0001g0213 a0004c0006t0001g0247 a0004c0006t0001g0248 a0004c0006t0001g0249 a0004c0006t0001g0250 a0004c0006t0001g0263 a0004c0006t0001g0271 a0004c0006t0001g0275 a0006c0013t0001g0093 a0006c0013t0001g0097 a0006c0013t0001g0124 a0009c0021t0001g0007 a0009c0021t0001g0008	19	314	0.0605	37	c.475 others(54): Show c.4751+217_4751+218insTGAGCAGACGGCTGAGCAGACAGGTGAG GGGGACAGG	DOCK6	ENSG00000130158.14	transcript	ENST00000294618.12	protein_coding	37/47			chr19	TogoVar
DOK6_chr18_69395888_69854087	69774133	G G	GATATATA others(30): Show GATATATATATATATATGAGATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0130 a0001c0001t0078g0130	1	170	0.0059	37	c.856 others(56): Show c.856+16276_856+16277insGAGATATATATATATATATATATATA TATATATATAT	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DPH1_chr17_2025153_2048898	2034754	G G	GCCTCCCT others(30): Show GCCTCCCTCCCCTCCCTGCTGCCACCCCCTCCCCATCC	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	392	0.0026	37	c.278 others(52): Show c.278+913_278+914insCTCCCTCCCCTCCCTGCTGCCACCCCCTCC CCATCCC	DPH1	ENSG00000108963.19	transcript	ENST00000263083.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
DPH6_chr15_35365880_35551165	35496567	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	228	0.0044	37	c.312 others(56): Show c.312+41706_312+41707insATATATATATATATATTTTTTTTTTT TTTTTTTTTTT	DPH6	ENSG00000134146.12	transcript	ENST00000256538.9	protein_coding	3/8			chr15	TogoVar
DPH6_chr15_35365880_35551165	35496567	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	228	0.0044	37	c.312 others(56): Show c.312+41706_312+41707insATATATATATATATATATTTTTTTTT TTTTTTTTTTT	DPH6	ENSG00000134146.12	transcript	ENST00000256538.9	protein_coding	3/8			chr15	TogoVar
DPH6_chr15_35365880_35551165	35496567	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	228	0.0044	37	c.312 others(56): Show c.312+41706_312+41707insATATATATATATATATATATTTTTTT TTTTTTTTTTT	DPH6	ENSG00000134146.12	transcript	ENST00000256538.9	protein_coding	3/8			chr15	TogoVar
DPM1_chr20_50929870_50963532	50941358	T T	TATATTCA others(30): Show TATATTCATATACATATATATTCATATTATATATATTC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01433.hp2 HG02145.hp1 others(12): Show HG01256.hp2 HG01433.hp2 HG02145.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp2 HG02809.hp2 HG02886.hp2 HG03453.hp1 HG03669.hp1 HG06807.hp2 NA18962.hp2 NA19057.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0014 a0001c0001t0001g0057 a0001c0001t0001g0058 others(11): Show a0001c0001t0001g0014 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0002g0270 a0001c0001t0002g0271	15	380	0.0395	37	c.495 others(52): Show c.495-426_495-425insGAATATATATAATATGAATATATATGTATA TGAATAT	DPM1	ENSG00000000419.14	transcript	ENST00000371588.10	protein_coding	6/8			chr20	TogoVar
DPP9_chr19_4670227_4728842	4670512	T T	TGCCGAGG others(30): Show TGCCGAGGGGGCGGGACTTTTGCCGAGGGGGCGGGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0178 a0001c0001t0004g0178	1	314	0.0032	37	c.60 others(48): Show c.6051_*6052insGGCCCCGCCCCCTCGGCAAAAGTCCCGCCCCCTC GGC	DPP9	ENSG00000142002.19	transcript	ENST00000262960.14	protein_coding		4714		chr19	TogoVar
DROSHA_chr5_31395494_31537093	31421898	T T	TATATATA others(30): Show TATATATATATATATATATATATATATATATATGCGCC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01928.hp2 HG01978.hp1 others(11): Show HG00621.hp1 HG01928.hp2 HG01978.hp1 HG02132.hp1 HG02717.hp2 HG03540.hp1 HG03942.hp2 HG04199.hp1 NA18948.hp1 NA19077.hp2 NA19085.hp1 NA19240.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0002c0005 a0001c0002 a0002c0004 a0002c0005	a0001c0002t0001 a0001c0002t0002 a0001c0002t0019 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0019 a0002c0004t0004 a0002c0005t0007	a0001c0002t0001g0004 a0001c0002t0001g0039 a0001c0002t0001g0161 others(11): Show a0001c0002t0001g0004 a0001c0002t0001g0039 a0001c0002t0001g0161 a0001c0002t0001g0175 a0001c0002t0001g0177 a0001c0002t0001g0188 a0001c0002t0001g0206 a0001c0002t0001g0218 a0001c0002t0001g0223 a0001c0002t0001g0232 a0001c0002t0002g0195 a0001c0002t0019g0168 a0002c0004t0004g0022 a0002c0005t0007g0013	14	322	0.0435	37	c.342 others(54): Show c.3420-522_3420-521insGGCGCATATATATATATATATATATATA TATATATAT	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	29/35			chr5	TogoVar
DSC3_chr18_30984365_31047742	31044466	A A	AAGGGTAA others(30): Show AAGGGTAAGACACCATCGCCTCAGCCAGCACAGGAAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0134 a0001c0001t0011g0134	1	392	0.0026	37	c.-18 others(48): Show c.-1807_-1806insGCTTCCTGTGCTGGCTGAGGCGATGGTGTCTTAC CCT	DSC3	ENSG00000134762.17	transcript	ENST00000360428.9	protein_coding		1725		chr18	TogoVar
DTL_chr1_212030748_212110013	212055189	G G	GAAAAAAT others(30): Show GAAAAAATATTTCTTTTTTTTTTGAGGCAGAGTCTCGC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02809.hp1 HG03139.hp1 others(3): Show HG02717.hp1 HG02809.hp1 HG03139.hp1 HG03453.hp1 NA18981.hp2 NA18997.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0015 a0001c0001 a0005c0015	a0001c0001t0005 a0005c0015t0005 a0001c0001t0005 a0005c0015t0005	a0001c0001t0005g0246 a0001c0001t0005g0247 a0001c0001t0005g0248 others(3): Show a0001c0001t0005g0246 a0001c0001t0005g0247 a0001c0001t0005g0248 a0001c0001t0005g0249 a0001c0001t0005g0262 a0005c0015t0005g0245	6	364	0.0165	37	c.461 others(54): Show c.461-7695_461-7694insAAAAAATATTTCTTTTTTTTTTGAGGCA GAGTCTCGC	DTL	ENSG00000143476.18	transcript	ENST00000366991.5	protein_coding	5/14			chr1	TogoVar
DUS3L_chr19_5780140_5796163	5796158	C C	CTTCTTCT others(30): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0009 a0002c0001t0002g0009	1	364	0.0028	37	c.-50 others(48): Show c.-5018_-5017insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAA	DUS3L	ENSG00000141994.16	transcript	ENST00000309061.12	protein_coding		4996		chr19	TogoVar
DUSP13_chr10_75089436_75104512	75101550	T T	TCTCATTG others(30): Show TCTCATTGAATCCTCACAGTGCCTTTATGGAGCAATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	404	0.0025	37	c.-21 others(48): Show c.-2114_-2113insGTATTGCTCCATAAAGGCACTGTGAGGATTCAAT GAG	DUSP13	ENSG00000079393.22	transcript	ENST00000478873.7	protein_coding		2039		chr10	TogoVar
DUSP29_chr10_75032472_75078642	75074317	A A	AAAAAAAT others(30): Show AAAAAAATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0019 a0003c0003t0001g0019	1	368	0.0027	37	c.-78 others(46): Show c.-784_-783insATATATATATATATATATATATATATATATATTTTT T	DUSP29	ENSG00000188716.6	transcript	ENST00000338487.6	protein_coding		676		chr10	TogoVar
DUXA_chr19_57149021_57172485	57172099	A A	AGGGGGGC others(30): Show AGGGGGGCGGGGCGTGCGAGGGGGGCGGGGCGTGCGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0342 a0001c0001t0001g0342	1	446	0.0022	37	c.-46 others(48): Show c.-4657_-4656insCTCGCACGCCCCGCCCCCCTCGCACGCCCCGCCC CCC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4615		chr19	TogoVar
DVL1_chr1_1330278_1354418	1350386	G G	GGAGGGGG others(30): Show GGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 NA19043.hp2 HG01891.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0061 a0001c0001t0003g0016 a0001c0001t0003g0061	2	344	0.0058	37	c.-13 others(48): Show c.-1322_-1321insACTCCCCCCGTCGCTCCTGCCCCGTCCAGGCCCC CTC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		969		chr1	TogoVar
DVL1_chr1_1330278_1354418	1350426	G G	GGAGGGGG others(30): Show GGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0016	1	344	0.0029	37	c.-13 others(48): Show c.-1362_-1361insACTCCCCCCGTCGCTCCTGCCCCGTCCAGGCCCC CTC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		1009		chr1	TogoVar
DVL1_chr1_1330278_1354418	1350466	G G	GGAGGGGG others(30): Show GGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02155.hp1 HG02132.hp2 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0050 a0001c0001t0003g0015 a0001c0001t0003g0050	2	344	0.0058	37	c.-14 others(48): Show c.-1402_-1401insACTCCCCCCGTCGCTCCTGCCCGGTCCAGGCCCC CTC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		1049		chr1	TogoVar
DVL1_chr1_1330278_1354418	1350481	G G	GGGGCAGG others(30): Show GGGGCAGGAGCGACGGGGGGAGTGAGGGGGCCTGGACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0024	1	344	0.0029	37	c.-14 others(48): Show c.-1417_-1416insGGTCCAGGCCCCCTCACTCCCCCCGTCGCTCCTG CCC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		1064		chr1	TogoVar
DVL1_chr1_1330278_1354418	1350521	G G	GGGGCAGG others(30): Show GGGGCAGGAGCGACGGGGGGAGTGAGGGGGCCTGGACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0056 a0001c0001t0003g0056	1	344	0.0029	37	c.-14 others(48): Show c.-1457_-1456insGGTCCAGGCCCCCTCACTCCCCCCGTCGCTCCTG CCC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		1104		chr1	TogoVar
DVL1_chr1_1330278_1354418	1350546	G G	GGAGGGGG others(30): Show GGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG02280.hp1 HG01109.hp2 HG02280.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0005 a0001c0001t0003 a0002c0002t0005	a0001c0001t0003g0059 a0002c0002t0005g0006 a0001c0001t0003g0059 a0002c0002t0005g0006	2	344	0.0058	37	c.-14 others(48): Show c.-1482_-1481insACTCCCCCCGTCGCTCCTGCCCCGTCCAGGCCCC CTC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		1129		chr1	TogoVar
DVL1_chr1_1330278_1354418	1350626	G G	GGAGGGGG others(30): Show GGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0016	1	344	0.0029	37	c.-15 others(48): Show c.-1562_-1561insACTCCCCCCGTCGCTCCTGCCCGGTCCAGGCCCC CTC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		1209		chr1	TogoVar
DVL1_chr1_1330278_1354418	1350666	G G	GGAGGGGG others(30): Show GGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0003 a0005c0014t0003	a0005c0014t0003g0055 a0005c0014t0003g0055	1	344	0.0029	37	c.-16 others(48): Show c.-1602_-1601insACTCCCCCCGTCGCTCCTGCCCGGTCCAGGCCCC CTC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		1249		chr1	TogoVar
DVL1_chr1_1330278_1354418	1350706	G G	GGAGGGGG others(30): Show GGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0061 a0001c0001t0003g0061	1	344	0.0029	37	c.-16 others(48): Show c.-1642_-1641insACTCCCCCCGTCGCTCCTGCCCGGTCCAGGCCCC CTC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		1289		chr1	TogoVar
DVL1_chr1_1330278_1354418	1350746	G G	GGAGGGGG others(30): Show GGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0016	1	344	0.0029	37	c.-16 others(48): Show c.-1682_-1681insACTCCCCCCGTCGCTCCTGCCCGGTCCAGGCCCC CTC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		1329		chr1	TogoVar
DVL1_chr1_1330278_1354418	1350786	G G	GGAGGGGG others(30): Show GGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0049 a0001c0001t0003g0049	1	344	0.0029	37	c.-17 others(48): Show c.-1722_-1721insACTCCCCCCGTCGCTCCTGCCCGGTCCAGGCCCC CTC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		1369		chr1	TogoVar
DVL1_chr1_1330278_1354418	1350866	G G	GGAGGGGG others(30): Show GGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0053 a0001c0001t0010g0053	1	344	0.0029	37	c.-18 others(48): Show c.-1802_-1801insACTCCCCCCGTCGCTCCTGCCCGGTCCAGGCCCC CTC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		1449		chr1	TogoVar
DVL1_chr1_1330278_1354418	1351426	G G	GGAGGGGG others(30): Show GGAGGGGGCCTGGACGGGGCTGGAGCGGTGGGGAGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG01891.hp1 HG02280.hp1 others(8): Show HG01346.hp2 HG01891.hp1 HG02280.hp1 HG02559.hp2 HG03041.hp1 HG03041.hp2 HG03471.hp1 NA18906.hp2 NA18966.hp2 NA19070.hp1 NA20300.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0014 a0001c0001 a0005c0014	a0001c0001t0003 a0005c0014t0003 a0001c0001t0003 a0005c0014t0003	a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0024 others(8): Show a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0024 a0001c0001t0003g0049 a0001c0001t0003g0054 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0061 a0005c0014t0003g0055	11	344	0.0320	37	c.-23 others(48): Show c.-2362_-2361insACTCTCCCCACCGCTCCAGCCCCGTCCAGGCCCC CTC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		2009		chr1	TogoVar
DYM_chr18_49031387_49465645	49440993	T T	TTTATATA others(30): Show TTTATATAAATATATTATATTTTATATATTATATATAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03041.hp2 HG02922.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0258 a0001c0001t0005g0259 a0001c0001t0005g0258 a0001c0001t0005g0259	2	290	0.0069	37	c.-53 others(56): Show c.-53-10547_-53-10546insTTATATATAATATATAAAATATAATA TATTTATATAA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
DYNC1I1_chr7_95767554_96103424	96093633	C C	CAGTCGAT others(30): Show CAGTCGATGAAGCAGTTGGAATATCTGAGTCATCCCTA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	230	0.0044	37	c.177 others(56): Show c.1777-3848_1777-3812dupGTCGATGAAGCAGTTGGAATATCTGA GTCATCCCTAA	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr7	TogoVar

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Search Results (Total: 3614 hits)