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
DNAAF4_chr15_55425308_55513234	55447787	G G	GAGAGGGG others(36): Show GAGAGGGGAGAGGGGAGAGGGCAGAGGGGGAGAGGGGAGAGGGC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	338	0.0030	43	c.783 others(60): Show c.783+2434_783+2435insGCCCTCTCCCCTCTCCCCCTCTGCCCTC TCCCCTCTCCCCTCT	DNAAF4	ENSG00000256061.7	transcript	ENST00000321149.7	protein_coding	6/9			chr15	TogoVar
DNAAF4_chr15_55425308_55513234	55447825	A A	AGGGCAGA others(36): Show AGGGCAGAGGGGAGAGGGGAGAGGGCAGAGGGGAGAGGGGAGAG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	338	0.0030	43	c.783 others(60): Show c.783+2354_783+2396dupCTCTCCCCTCTCCCCTCTGCCCTCTCCC CTCTCCCCTCTGCCC	DNAAF4	ENSG00000256061.7	transcript	ENST00000321149.7	protein_coding	6/9			chr15	TogoVar
DNAH10_chr12_123757301_123940714	123911579	G G	GGGGGGAT others(36): Show GGGGGGATCTGTCCTGGGGGGTCTGTCCTGGGGGCATCCGTCCT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0013 a0013	a0013c0014 a0013c0014	a0013c0014t0001 a0013c0014t0001	a0013c0014t0001g0037 a0013c0014t0001g0037	1	170	0.0059	43	c.101 others(62): Show c.10134+912_10134+913insATCTGTCCTGGGGGGTCTGTCCTGGG GGCATCCGTCCTGGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123911672	G G	GGGGGAGT others(36): Show GGGGGAGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTTTGTCCT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02109.hp1 HG02717.hp2 others(2): Show HG02027.hp2 HG02109.hp1 HG02717.hp2 HG03209.hp2 NA18906.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0058 a0002c0011 others(1): Show a0001c0001 a0001c0058 a0002c0011 a0006c0027	a0001c0001t0001 a0001c0058t0001 a0002c0011t0001 others(1): Show a0001c0001t0001 a0001c0058t0001 a0002c0011t0001 a0006c0027t0001	a0001c0001t0001g0057 a0001c0001t0001g0114 a0001c0058t0001g0033 others(2): Show a0001c0001t0001g0057 a0001c0001t0001g0114 a0001c0058t0001g0033 a0002c0011t0001g0164 a0006c0027t0001g0145	5	170	0.0294	43	c.101 others(64): Show c.10134+1004_10134+1005insAGTCTGTCCTGGGGGGGTCTGTCC TGGGGGGTTTGTCCTGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123936798	C C	CTTAGGTT others(36): Show CTTAGGTTACACGGAGCGGGATCAGAAGCAAGCGATTCGGCACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0040 a0040	a0040c0044 a0040c0044	a0040c0044t0001 a0040c0044t0001	a0040c0044t0001g0050 a0040c0044t0001g0050	1	170	0.0059	43	c.13 others(54): Show c.1317_*1318insTTAGGTTACACGGAGCGGGATCAGAAGCAAGCGA TTCGGCACG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding		1085		chr12	TogoVar
DNAH11_chr7_21538039_21906839	21789808	T T	TCTTTCTT others(36): Show TCTTTCTTTCTTTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTC	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA18952.hp2 HG01074.hp2 NA18952.hp2	a0002 a0182 a0002 a0182	a0002c0110 a0182c0273 a0002c0110 a0182c0273	a0002c0110t0005 a0182c0273t0017 a0002c0110t0005 a0182c0273t0017	a0002c0110t0005g0245 a0182c0273t0017g0149 a0002c0110t0005g0245 a0182c0273t0017g0149	2	298	0.0067	43	c.100 others(62): Show c.10026+466_10026+467insCTTTCTTTCTTTTTTCTTTCTTTCTT TCTTTCTTTCTTTTTTC	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	61/81			chr7	TogoVar
DNAH11_chr7_21538039_21906839	21789808	T T	TCTTTCTT others(36): Show TCTTTCTTTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01993.hp1 HG04184.hp2 HG00735.hp2 HG01993.hp1 HG04184.hp2	a0021 a0073 a0162 a0021 a0073 a0162	a0021c0050 a0073c0031 a0162c0239 a0021c0050 a0073c0031 a0162c0239	a0021c0050t0003 a0073c0031t0004 a0162c0239t0003 a0021c0050t0003 a0073c0031t0004 a0162c0239t0003	a0021c0050t0003g0264 a0073c0031t0004g0268 a0162c0239t0003g0215 a0021c0050t0003g0264 a0073c0031t0004g0268 a0162c0239t0003g0215	3	298	0.0101	43	c.100 others(62): Show c.10026+466_10026+467insCTTTCTTTTTTCTTTCTTTCTTTCTT TCTTTCTTTTTTCTTTC	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	61/81			chr7	TogoVar
DNAH11_chr7_21538039_21906839	21789808	T T	TCTTTTTT others(36): Show TCTTTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0100 a0100	a0100c0168 a0100c0168	a0100c0168t0009 a0100c0168t0009	a0100c0168t0009g0121 a0100c0168t0009g0121	1	298	0.0034	43	c.100 others(62): Show c.10026+466_10026+467insCTTTTTTCTTTCTTTCTTTCTTTCTT TCTTTTTTCTTTCTTTC	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	61/81			chr7	TogoVar
DNAH11_chr7_21538039_21906839	21789808	T T	TTTTCTTT others(36): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0014 a0014	a0014c0055 a0014c0055	a0014c0055t0003 a0014c0055t0003	a0014c0055t0003g0234 a0014c0055t0003g0234	1	298	0.0034	43	c.100 others(62): Show c.10026+493_10026+494insTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTT	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	61/81		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAH12_chr3_57288700_57549344	57361444	C C	CTATATAT others(36): Show CTATATATATATACACACACACACTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03453.hp1 HG02809.hp1 HG03453.hp1	a0013 a0020 a0013 a0020	a0013c0009 a0020c0019 a0013c0009 a0020c0019	a0013c0009t0001 a0020c0019t0001 a0013c0009t0001 a0020c0019t0001	a0013c0009t0001g0115 a0020c0019t0001g0005 a0013c0009t0001g0115 a0020c0019t0001g0005	2	266	0.0075	43	c.936 others(62): Show c.9360+2149_9360+2150insTATATATATATATATATATAGTGTGT GTGTGTATATATATATA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	58/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57499647	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0028 a0028	a0028c0021 a0028c0021	a0028c0021t0001 a0028c0021t0001	a0028c0021t0001g0092 a0028c0021t0001g0092	1	266	0.0038	43	c.133 others(62): Show c.1335+1673_1335+1674insATATATATATATATATATATATTTTT TTTTTTTTTTTTTTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	11/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57499647	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0093 a0004c0004t0001g0093	1	266	0.0038	43	c.133 others(62): Show c.1335+1673_1335+1674insATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	11/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57499647	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0107 a0004c0004t0001g0107	1	266	0.0038	43	c.133 others(62): Show c.1335+1673_1335+1674insATATATATATATATATATATATATAT ATTTTTTTTTTTTTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	11/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57499647	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0016 a0016	a0016c0012 a0016c0012	a0016c0012t0001 a0016c0012t0001	a0016c0012t0001g0109 a0016c0012t0001g0109	1	266	0.0038	43	c.133 others(62): Show c.1335+1673_1335+1674insATATATATATATATATATATATATAT ATATTTTTTTTTTTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	11/73			chr3	TogoVar
DNAH17_chr17_78418697_78582396	78541204	C C	CGGGGTGG others(36): Show CGGGGTGGGGGGGTGAGCGGGGTGGGGGGATGAGCGGGGTGGGG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0003 a0003	a0003c0099 a0003c0099	a0003c0099t0002 a0003c0099t0002	a0003c0099t0002g0133 a0003c0099t0002g0133	1	252	0.0040	43	c.253 others(62): Show c.2533-1325_2533-1324insCCCCACCCCGCTCATCCCCCCACCCC GCTCACCCCCCCACCCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	17/80			chr17	TogoVar
DNAH2_chr17_7712744_7838742	7725440	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18951.hp2 NA18960.hp1 others(3): Show HG02129.hp1 NA18951.hp2 NA18960.hp1 NA18962.hp2 NA19062.hp2 NA19091.hp2	a0002 a0003 a0009 a0002 a0003 a0009	a0002c0007 a0003c0004 a0009c0012 a0002c0007 a0003c0004 a0009c0012	a0002c0007t0001 a0003c0004t0001 a0009c0012t0001 a0002c0007t0001 a0003c0004t0001 a0009c0012t0001	a0002c0007t0001g0139 a0003c0004t0001g0147 a0003c0004t0001g0210 others(3): Show a0002c0007t0001g0139 a0003c0004t0001g0147 a0003c0004t0001g0210 a0003c0004t0001g0211 a0009c0012t0001g0135 a0009c0012t0001g0140	6	316	0.0190	43	c.229 others(60): Show c.229-1681_229-1680insATATATATATATATATATATATATATAT ATTTTTTTTTTTTTT	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding	3/85		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH2_chr17_7712744_7838742	7725440	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	316	0.0032	43	c.229 others(60): Show c.229-1681_229-1680insATATATATATATATATATATATATATAT TTTTTTTTTTTTTTT	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding	3/85		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH2_chr17_7712744_7838742	7725440	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18957.hp2 HG00438.hp1 NA18957.hp2	a0011 a0022 a0011 a0022	a0011c0037 a0022c0117 a0011c0037 a0022c0117	a0011c0037t0001 a0022c0117t0001 a0011c0037t0001 a0022c0117t0001	a0011c0037t0001g0138 a0022c0117t0001g0145 a0011c0037t0001g0138 a0022c0117t0001g0145	2	316	0.0063	43	c.229 others(60): Show c.229-1681_229-1680insATATATATATATATATATATATATATTT TTTTTTTTTTTTTTT	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding	3/85		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH2_chr17_7712744_7838742	7795986	A A	ATATATTA others(36): Show ATATATTATGTAACACTATATATATATAGTGTATATATATAGTG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0035 a0035	a0035c0099 a0035c0099	a0035c0099t0002 a0035c0099t0002	a0035c0099t0002g0259 a0035c0099t0002g0259	1	316	0.0032	43	c.767 others(60): Show c.7675-473_7675-472insTATGTAACACTATATATATATAGTGTAT ATATATAGTGTATAT	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding	49/85		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH3_chr16_20928111_21155846	21020349	T T	TGTGTATA others(36): Show TGTGTATATATATATATATATATATATATATATATATAAAATCA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0120 a0001c0022t0001g0120	1	234	0.0043	43	c.563 others(60): Show c.5639-481_5639-480insTGATTTTATATATATATATATATATATA TATATATATATACAC	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	40/61			chr16	TogoVar
DNAH3_chr16_20928111_21155846	21067772	G G	GGGGGGGA others(36): Show GGGGGGGAGGGAGGGAGGGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0008 a0008	a0008c0087 a0008c0087	a0008c0087t0001 a0008c0087t0001	a0008c0087t0001g0131 a0008c0087t0001g0131	1	234	0.0043	43	c.324 others(60): Show c.3244-354_3244-353insTCTCTCTCTCTCTCTCTCTCTCTCTCCC TCCCTCCCTCCCCCC	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	23/61			chr16	TogoVar
DNAH3_chr16_20928111_21155846	21067772	G G	GGGGGGGG others(36): Show GGGGGGGGGAGGGAGGGAGAGGGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0062 a0001c0013t0001g0062	1	234	0.0043	43	c.324 others(60): Show c.3244-354_3244-353insTCTCTCTCTCTCTCTCTCTCTCCCTCTC CCTCCCTCCCCCCCC	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	23/61			chr16	TogoVar
DNAI7_chr12_25103289_25200160	25120317	G G	GAGAGAGA others(36): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	336	0.0030	43	c.124 others(62): Show c.1240-1017_1240-1016insTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCT	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	11/15			chr12	TogoVar
DNAJC10_chr2_182711257_182799464	182716068	G G	GGCCAGGG others(36): Show GGCCAGGGCAGTTCCCTCAGCTCCGGGTTGGAGCCGGAGCCGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0085 a0001c0001t0004g0085	1	310	0.0032	43	c.-61 others(52): Show c.-619_-618insGCCAGGGCAGTTCCCTCAGCTCCGGGTTGGAGCCGG AGCCGGA	DNAJC10	ENSG00000077232.19	transcript	ENST00000264065.12	protein_coding		188		chr2	TogoVar
DNAJC4_chr11_64225548_64239281	64237126	G G	GAGAGAGA others(36): Show GAGAGAGAGAGAGAGAGAGAGACAGAGACAGACAGAGACAGACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp2 NA19010.hp2 NA19085.hp1 NA18969.hp2 NA19010.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	338	0.0089	43	c.29 others(54): Show c.2942_*2943insAGAGAGAGAGAGAGAGAGAGACAGAGACAGACAG AGACAGACA	DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding		2846		chr11	TogoVar
DNAL1_chr14_73639986_73708732	73648417	T T	TATATATA others(36): Show TATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0091 a0001c0001t0005g0091	1	340	0.0029	43	c.3+3 others(56): Show c.3+3375_3+3376insATATATATATATATATATATATATATATATAT ATATATATATA	DNAL1	ENSG00000119661.15	transcript	ENST00000553645.7	protein_coding	1/7			chr14	TogoVar
DNASE1L1_chrX_154396236_154414254	154396712	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG03130.hp1 HG02622.hp2 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0002 a0001c0002t0003	a0001c0002t0002g0008 a0001c0002t0003g0061 a0001c0002t0002g0008 a0001c0002t0003g0061	2	279	0.0072	43	c.59 others(54): Show c.5994_*5995insAAAAAAAAATATATATATATATATATATATATAT ATATATATA	DNASE1L1	ENSG00000013563.14	transcript	ENST00000369807.6	protein_coding		4523		chrX	TogoVar
DNASE2B_chr1_84393484_84420018	84399719	G G	GAATACAG others(36): Show GAATACAGGAAGATGACCGGAGGTGAGGTTAGAGAGGTGGGGAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0143 a0001c0003t0001g0143	1	426	0.0024	43	c.125 others(60): Show c.125+1032_125+1074dupATACAGGAAGATGACCGGAGGTGAGGTT AGAGAGGTGGGGACA	DNASE2B	ENSG00000137976.8	transcript	ENST00000370665.4	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
DOC2B_chr17_137789_186650	141306	G G	GTGGGGAG others(36): Show GTGGGGAGCCTTGGTGAGGGGACCTGGTGAGGAGGACCTGGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0117 a0001c0002t0003g0117	1	339	0.0030	43	c.61 others(54): Show c.6134_*6135insTCACCAGGTCCTCCTCACCAGGTCCCCTCACCAA GGCTCCCCA	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding		1482		chr17	TogoVar
DOCK1_chr10_126900428_127457516	127093239	C C	CTTTCTTT others(36): Show CTTTCTTTCTTTCTTTCTTTCTTTTCTTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG06807.hp2 NA20300.hp1 HG01099.hp1 HG06807.hp2 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0033 a0002c0035 a0003c0026 a0001c0033 a0002c0035 a0003c0026	a0001c0033t0007 a0002c0035t0003 a0003c0026t0004 a0001c0033t0007 a0002c0035t0003 a0003c0026t0004	a0001c0033t0007g0087 a0002c0035t0003g0053 a0003c0026t0004g0100 a0001c0033t0007g0087 a0002c0035t0003g0053 a0003c0026t0004g0100	3	136	0.0221	43	c.244 others(64): Show c.2446-12990_2446-12989insTCTTTCTTTCTTTCTTTCTTTTCT TTTCTTTCTTTCTTTCTTT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	23/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOK6_chr18_69395888_69854087	69617707	A A	AAAGAAAG others(36): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0001 a0001c0001t0068g0001	1	170	0.0059	43	c.289 others(62): Show c.289+18211_289+18212insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAA	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DPEP1_chr16_89608642_89643433	89630590	C C	CTGGGGCT others(36): Show CTGGGGCTGGGGGAGCGGGGCTGGGGGAGCTGGGGCTGGGGGAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG00642.hp1 others(23): Show HG00408.hp1 HG00558.hp1 HG00642.hp1 HG02071.hp2 HG02083.hp2 HG02135.hp1 HG03491.hp1 NA18612.hp1 NA18951.hp1 NA18954.hp1 NA18954.hp2 NA18966.hp1 NA18970.hp2 NA18975.hp2 NA18983.hp1 NA18984.hp1 NA19000.hp2 NA19009.hp1 NA19064.hp1 NA19067.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19085.hp1 NA19091.hp1 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 others(23): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0070 a0001c0001t0001g0123 a0001c0001t0001g0188 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0113	26	250	0.1040	43	c.104 others(56): Show c.104+76_104+77insTGGGGCTGGGGGAGCGGGGCTGGGGGAGCTGG GGCTGGGGGAG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10			chr16	TogoVar
DPEP1_chr16_89608642_89643433	89634611	C C	CCCTTCCA others(36): Show CCCTTCCATCCTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	250	0.0040	43	c.105 others(60): Show c.105-1295_105-1294insTTCCATCCTTCCCTTCCTTCTCCTTTCC CTTCCTTCCCTTTCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89635146	C C	CCCTTTCC others(36): Show CCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCT	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA19240.hp1 HG02451.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0229 a0001c0001t0001g0232	2	250	0.0080	43	c.105 others(58): Show c.105-762_105-761insCCTTTCCCTTCCTTCCCTTTCCCTTCCTTC CCTTTCCCTTCCT	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10			chr16	TogoVar
DPF3_chr14_72604034_72899101	72756928	A A	AAGAAAGA others(36): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAGAAGAGAAG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0107 a0001c0001t0023g0107	1	234	0.0043	43	c.194 others(60): Show c.194-3558_194-3557insCTTCTCTTCTCTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCT	DPF3	ENSG00000205683.12	transcript	ENST00000556509.6	protein_coding	2/10			chr14	TogoVar
DPH1_chr17_2025153_2048898	2035502	T T	TGGGGGCC others(36): Show TGGGGGCCCTGCCTGCGGTGGGGAGGTAGCGGGGGTCCAGGCGA	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	392	0.0026	43	c.279 others(58): Show c.279-454_279-453insCGGTGGGGAGGTAGCGGGGGTCCAGGCGAG GGGGCCCTGCCTG	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(36): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	228	0.0044	43	c.312 others(62): Show c.312+41706_312+41707insATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTT	DPH6	ENSG00000134146.12	transcript	ENST00000256538.9	protein_coding	3/8			chr15	TogoVar
DPP10_chr2_114437641_115850780	115334230	G G	GTTTTTTT others(36): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTGT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0042 a0002c0001t0001g0042	1	56	0.0179	43	c.176 others(60): Show c.176-9571_176-9570insTTTTTTTTTTTTTTTTTTTTGTTTTGTT TTTTTTTTTTTTTTT	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP6_chr7_154047398_154899285	154663609	T T	TGGCCGTA others(36): Show TGGCCGTAGTGTTCATATAGTCATGTGAATCACCATGGCGTATC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00673.hp1 HG01952.hp1 others(2): Show HG00558.hp1 HG00673.hp1 HG01952.hp1 HG01952.hp2 HG02965.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0016 a0001c0017 others(2): Show a0001c0003 a0001c0016 a0001c0017 a0002c0012 a0002c0013	a0001c0003t0008 a0001c0016t0013 a0001c0017t0020 others(2): Show a0001c0003t0008 a0001c0016t0013 a0001c0017t0020 a0002c0012t0021 a0002c0013t0018	a0001c0003t0008g0025 a0001c0016t0013g0014 a0001c0017t0020g0033 others(2): Show a0001c0003t0008g0025 a0001c0016t0013g0014 a0001c0017t0020g0033 a0002c0012t0021g0035 a0002c0013t0018g0026	5	38	0.1316	43	c.681 others(60): Show c.681-5747_681-5746insGTAGTGTTCATATAGTCATGTGAATCAC CATGGCGTATCGGCC	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	6/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP7_chr9_137105546_137119733	137114131	A A	ACCCCCGC others(36): Show ACCCCCGCCCGCGACCCCCGCCCGGCACCCGCGTGCCCCGCGAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0063 a0001c0004t0001g0063	1	454	0.0022	43	c.322 others(58): Show c.322-104_322-103insGTCGCGGGGCACGCGGGTGCCGGGCGGGGG TCGCGGGCGGGGG	DPP7	ENSG00000176978.15	transcript	ENST00000371579.7	protein_coding	3/12			chr9	TogoVar
DPP7_chr9_137105546_137119733	137114213	A A	ACCCCCCG others(36): Show ACCCCCCGCCCGCGACCCCGCCCGGCACCCACGTGCCCCGCGAC	intron_variant intron_variant	MODIFIER	HG01978.hp1 NA19087.hp2 HG01978.hp1 NA19087.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0014 a0001c0001 a0004c0014	a0001c0001t0001 a0004c0014t0001 a0001c0001t0001 a0004c0014t0001	a0001c0001t0001g0123 a0004c0014t0001g0122 a0001c0001t0001g0123 a0004c0014t0001g0122	2	454	0.0044	43	c.321 others(56): Show c.321+29_321+30insGTCGCGGGGCACGTGGGTGCCGGGCGGGGTCG CGGGCGGGGGG	DPP7	ENSG00000176978.15	transcript	ENST00000371579.7	protein_coding	3/12			chr9	TogoVar
DPP7_chr9_137105546_137119733	137114213	A A	ACCCCCGC others(36): Show ACCCCCGCCCGCGACCCCCGCCCGGCACCCACGTGCCCCGCGAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG03831.hp2 NA18964.hp2 HG00741.hp2 HG03831.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0121 a0001c0001t0001g0041 a0001c0001t0001g0121	3	454	0.0066	43	c.321 others(56): Show c.321+29_321+30insGTCGCGGGGCACGTGGGTGCCGGGCGGGGGTC GCGGGCGGGGG	DPP7	ENSG00000176978.15	transcript	ENST00000371579.7	protein_coding	3/12			chr9	TogoVar
DROSHA_chr5_31395494_31537093	31421897	A A	AAAAAAAA others(36): Show AAAAAAAAAAATATATATATATATATATATATATATATATGCGC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0002 a0001c0026t0002	a0001c0026t0002g0091 a0001c0026t0002g0091	1	322	0.0031	43	c.342 others(60): Show c.3420-521_3420-520insGCGCATATATATATATATATATATATAT ATATATTTTTTTTTT	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	29/35			chr5	TogoVar
DROSHA_chr5_31395494_31537093	31421897	A A	AAAAAAAA others(36): Show AAAAAAAAATATATATATATATATATATATATATATATATGCGC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0090 a0001c0003t0002g0090	1	322	0.0031	43	c.342 others(60): Show c.3420-521_3420-520insGCGCATATATATATATATATATATATAT ATATATATTTTTTTT	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	29/35			chr5	TogoVar
DROSHA_chr5_31395494_31537093	31421897	A A	AAAAATAT others(36): Show AAAAATATATATATATATATATATATATATATATATATATGCGC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02818.hp2 NA19090.hp2 HG02523.hp1 HG02818.hp2 NA19090.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0002c0005 a0004c0009 a0001c0002 a0002c0005 a0004c0009	a0001c0002t0001 a0002c0005t0001 a0004c0009t0002 a0001c0002t0001 a0002c0005t0001 a0004c0009t0002	a0001c0002t0001g0036 a0002c0005t0001g0277 a0004c0009t0002g0255 a0001c0002t0001g0036 a0002c0005t0001g0277 a0004c0009t0002g0255	3	322	0.0093	43	c.342 others(60): Show c.3420-521_3420-520insGCGCATATATATATATATATATATATAT ATATATATATATTTT	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	29/35			chr5	TogoVar
DROSHA_chr5_31395494_31537093	31421898	T T	TATATATA others(36): Show TATATATATATATATATATATATATATATATATATATATGCGCC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0003 a0004c0016t0003	a0004c0016t0003g0253 a0004c0016t0003g0253	1	322	0.0031	43	c.342 others(60): Show c.3420-522_3420-521insGGCGCATATATATATATATATATATATA TATATATATATATAT	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	29/35			chr5	TogoVar
DROSHA_chr5_31395494_31537093	31421916	C C	CGCCATAT others(36): Show CGCCATATATATAAAAATTAGCCGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0095 a0001c0012t0001g0095	1	322	0.0031	43	c.342 others(60): Show c.3420-540_3420-539insCACACACACACACACACACACGGCTAAT TTTTATATATATGGC	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	29/35			chr5	TogoVar
DROSHA_chr5_31395494_31537093	31421917	C C	CATATATA others(36): Show CATATATATAAAAATTAGCCGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0299 a0001c0007t0001g0299	1	322	0.0031	43	c.342 others(60): Show c.3420-541_3420-540insACACACACACACACACACACACACGGCT AATTTTTATATATAT	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	29/35			chr5	TogoVar
DTNA_chr18_34705298_34896844	34790567	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0002 a0001c0002t0005g0002	1	112	0.0089	43	c.149 others(60): Show c.149-3469_149-3468insATATATATATATATATATATATATATAT ATATATATTTTTTTT	DTNA	ENSG00000134769.23	transcript	ENST00000444659.6	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr18	TogoVar
DUS1L_chr17_82052506_82070804	82055542	T T	TCCTCAGC others(36): Show TCCTCAGCATTGGTGGGGCTCTTTCCACCCGTGACTAGAGTATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	43	c.25 others(54): Show c.2530_*2572dupGATACTCTAGTCACGGGTGGAAAGAGCCCCACCA ATGCTGAGG	DUS1L	ENSG00000169718.18	transcript	ENST00000306796.10	protein_coding		1963		chr17	TogoVar

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Search Results (Total: 2299 hits)