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
DENND1A_chr9_123374658_123935126	123728479	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	162	0.0062	22	c.302 others(41): Show c.302+29202_302+29223dupTTTTTTTTTTTTTTTTTTTTTT	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	5/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123740899	T T	TGAGAGAG others(15): Show TGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA19043.hp1 HG01175.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0005t0005 a0001c0003t0001 a0001c0005t0005	a0001c0003t0001g0100 a0001c0005t0005g0131 a0001c0003t0001g0100 a0001c0005t0005g0131	2	162	0.0124	22	c.302 others(41): Show c.302+16782_302+16803dupTCTCTCTCTCTCTCTCTCTCTC	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	5/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123845670	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA19043.hp1 HG02451.hp1 NA19043.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0130 a0001c0005t0005g0131 a0001c0005t0005g0130 a0001c0005t0005g0131	2	162	0.0124	22	c.88+ others(39): Show c.88+33259_88+33280dupTTTTTTTTTTTTTTTTTTTTTT	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	2/23			chr9	TogoVar
DENND1B_chr1_197499748_197780480	197670443	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02258.hp1 HG03041.hp1 others(9): Show HG00423.hp1 HG02258.hp1 HG03041.hp1 HG03516.hp1 HG03831.hp2 NA18906.hp1 NA18942.hp1 NA18990.hp2 NA19009.hp2 NA19072.hp1 NA19090.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0021 a0001c0001t0039 a0001c0002t0002 a0002c0004t0010	a0001c0001t0001g0177 a0001c0001t0001g0184 a0001c0001t0001g0187 others(9): Show a0001c0001t0001g0177 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0244 a0001c0001t0001g0269 a0001c0001t0005g0016 a0001c0001t0007g0260 a0001c0001t0007g0261 a0001c0001t0021g0015 a0001c0001t0039g0185 a0001c0002t0002g0148 a0002c0004t0010g0005	12	280	0.0429	22	c.296 others(39): Show c.296+1572_296+1593dupCACACACACACACACACACACA	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	5/22			chr1	TogoVar
DENND2A_chr7_140513420_140645813	140557509	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA18964.hp1 NA18977.hp1 HG04184.hp1 NA18964.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0172 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0172	3	254	0.0118	22	c.195 others(39): Show c.1959+612_1959+633dupTATATATATATATATATATATA	DENND2A	ENSG00000146966.13	transcript	ENST00000496613.6	protein_coding	11/19			chr7	TogoVar
DENND2A_chr7_140513420_140645813	140557531	A A	ATATATAT others(15): Show ATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG03927.hp1 HG04184.hp2 others(1): Show HG02056.hp2 HG03927.hp1 HG04184.hp2 NA18973.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0019 a0002c0016 a0001c0001 a0001c0019 a0002c0016	a0001c0001t0001 a0001c0019t0001 a0002c0016t0003 a0001c0001t0001 a0001c0019t0001 a0002c0016t0003	a0001c0001t0001g0069 a0001c0001t0001g0247 a0001c0019t0001g0171 others(1): Show a0001c0001t0001g0069 a0001c0001t0001g0247 a0001c0019t0001g0171 a0002c0016t0003g0025	4	254	0.0158	22	c.195 others(39): Show c.1959+611_1959+612insAAAATATATATATATATATATA	DENND2A	ENSG00000146966.13	transcript	ENST00000496613.6	protein_coding	11/19			chr7	TogoVar
DENND2A_chr7_140513420_140645813	140557531	A A	ATATATAT others(15): Show ATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03942.hp2 HG03654.hp1 HG03942.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0010 a0001c0001 a0003c0010	a0001c0001t0001 a0003c0010t0002 a0001c0001t0001 a0003c0010t0002	a0001c0001t0001g0166 a0003c0010t0002g0021 a0001c0001t0001g0166 a0003c0010t0002g0021	2	254	0.0079	22	c.195 others(39): Show c.1959+611_1959+612insAAAAAATATATATATATATATA	DENND2A	ENSG00000146966.13	transcript	ENST00000496613.6	protein_coding	11/19			chr7	TogoVar
DENND2B_chr11_8688352_8815674	8754029	G G	GCGCACAC others(15): Show GCGCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA18906.hp2 NA20129.hp2 HG02922.hp1 NA18906.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0003c0002t0001 a0001c0001t0001 a0003c0002t0001	a0001c0001t0001g0119 a0003c0002t0001g0007 a0003c0002t0001g0008 a0001c0001t0001g0119 a0003c0002t0001g0007 a0003c0002t0001g0008	3	352	0.0085	22	c.-25 others(39): Show c.-25-3305_-25-3304insTGTGTGTGTGTGTGTGTGTGCG	DENND2B	ENSG00000166444.19	transcript	ENST00000313726.11	protein_coding	1/19			chr11	TogoVar
DENND2B_chr11_8688352_8815674	8754029	G G	GCGCGCGC others(15): Show GCGCGCGCGCGCACACACACACA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02976.hp2 HG01943.hp1 HG02976.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0344 a0001c0007t0001g0345 a0001c0007t0001g0344 a0001c0007t0001g0345	2	352	0.0057	22	c.-25 others(39): Show c.-25-3305_-25-3304insTGTGTGTGTGTGCGCGCGCGCG	DENND2B	ENSG00000166444.19	transcript	ENST00000313726.11	protein_coding	1/19			chr11	TogoVar
DENND2B_chr11_8688352_8815674	8771566	A A	AGAGAGAG others(15): Show AGAGAGAGAGAGAGAGAGAGAGC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03834.hp2 NA18979.hp2 others(1): Show HG02717.hp1 HG03834.hp2 NA18979.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0269 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0269 a0001c0001t0003g0255	4	352	0.0114	22	c.-25 others(41): Show c.-25-20842_-25-20841insGCTCTCTCTCTCTCTCTCTCTC	DENND2B	ENSG00000166444.19	transcript	ENST00000313726.11	protein_coding	1/19			chr11	TogoVar
DENND2B_chr11_8688352_8815674	8776146	G G	GCACACAC others(15): Show GCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0022 a0001c0001t0005g0022	1	352	0.0028	22	c.-25 others(41): Show c.-25-25422_-25-25421insTGTGTGTGTGTGTGTGTGTGTG	DENND2B	ENSG00000166444.19	transcript	ENST00000313726.11	protein_coding	1/19			chr11	TogoVar
DENND2B_chr11_8688352_8815674	8806603	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0159 a0002c0003t0002g0159	1	352	0.0028	22	c.-26 others(39): Show c.-26+3913_-26+3914insGTGTGTGTGTGTGTGTGTGTGT	DENND2B	ENSG00000166444.19	transcript	ENST00000313726.11	protein_coding	1/19			chr11	TogoVar
DENND2B_chr11_8688352_8815674	8806605	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG01175.hp1 others(43): Show HG00280.hp2 HG00323.hp2 HG01175.hp1 HG01255.hp1 HG01256.hp1 HG01361.hp2 HG01433.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01993.hp1 HG02056.hp1 HG02080.hp1 HG02132.hp1 HG02148.hp2 HG02572.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG03017.hp1 HG03098.hp1 HG03927.hp2 HG04115.hp1 HG04204.hp1 HG06807.hp1 NA18906.hp2 NA18946.hp2 NA18953.hp2 NA18956.hp1 NA18986.hp2 NA18995.hp1 NA18998.hp2 NA19004.hp1 NA19004.hp2 NA19030.hp1 NA19062.hp1 NA19064.hp1 NA19085.hp2 NA19090.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0007 a0002c0003 others(5): Show a0001c0001 a0001c0007 a0002c0003 a0003c0002 a0004c0004 a0005c0006 a0006c0005 a0007c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0007t0002 a0002c0003t0001 a0002c0003t0002 a0003c0002t0001 a0003c0002t0002 a0004c0004t0001 a0005c0006t0001 a0006c0005t0002 a0007c0008t0001	a0001c0001t0001g0119 a0001c0001t0001g0293 a0001c0001t0002g0051 others(43): Show a0001c0001t0001g0119 a0001c0001t0001g0293 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0118 a0001c0001t0002g0223 a0001c0001t0002g0296 a0001c0001t0003g0171 a0001c0001t0004g0172 a0001c0007t0002g0034 a0002c0003t0001g0173 a0002c0003t0001g0174 a0002c0003t0001g0175 a0002c0003t0001g0176 a0002c0003t0001g0177 a0002c0003t0001g0181 a0002c0003t0002g0054 a0002c0003t0002g0071 a0002c0003t0002g0141 a0002c0003t0002g0169 a0002c0003t0002g0170 a0002c0003t0002g0178 a0002c0003t0002g0179 a0002c0003t0002g0185 a0002c0003t0002g0217 a0003c0002t0001g0087 a0003c0002t0001g0182 a0003c0002t0001g0183 a0003c0002t0001g0184 a0003c0002t0001g0320 a0003c0002t0001g0324 a0003c0002t0001g0325 a0003c0002t0001g0326 a0003c0002t0001g0327 a0003c0002t0002g0291 a0003c0002t0002g0292 a0003c0002t0002g0321 a0003c0002t0002g0322 a0003c0002t0002g0328 a0003c0002t0002g0329 a0004c0004t0001g0323 a0005c0006t0001g0086 a0006c0005t0002g0180 a0007c0008t0001g0294 a0007c0008t0001g0295	46	352	0.1307	22	c.-26 others(39): Show c.-26+3890_-26+3911dupGTGTGTGTGTGTGTGTGTGTGT	DENND2B	ENSG00000166444.19	transcript	ENST00000313726.11	protein_coding	1/19			chr11	TogoVar
DENND2C_chr1_114577850_114675049	114655878	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	300	0.0033	22	c.-57 others(41): Show c.-573-1118_-573-1117insTATATATATATATATATATATA	DENND2C	ENSG00000175984.16	transcript	ENST00000393274.6	protein_coding	1/20			chr1	TogoVar
DENND4A_chr15_65654123_65797293	65676141	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00673.hp1 HG02027.hp2 others(22): Show HG00642.hp2 HG00673.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02293.hp2 HG02451.hp2 HG02602.hp1 HG02922.hp2 HG03209.hp2 HG03225.hp1 HG03491.hp2 NA18942.hp2 NA18947.hp2 NA18950.hp2 NA18964.hp2 NA18965.hp1 NA18977.hp2 NA18994.hp2 NA19009.hp2 NA19043.hp1 NA19060.hp1 NA19063.hp2 NA19091.hp2 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0021 a0004c0012 a0001c0001 a0001c0021 a0004c0012	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(7): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 a0001c0001t0014 a0001c0001t0023 a0001c0001t0032 a0001c0001t0033 a0001c0021t0022 a0004c0012t0002	a0001c0001t0002g0002 a0001c0001t0002g0026 a0001c0001t0002g0027 others(22): Show a0001c0001t0002g0002 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0064 a0001c0001t0002g0072 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0044 a0001c0001t0004g0073 a0001c0001t0004g0083 a0001c0001t0004g0090 a0001c0001t0004g0091 a0001c0001t0008g0068 a0001c0001t0011g0013 a0001c0001t0011g0017 a0001c0001t0011g0018 a0001c0001t0014g0019 a0001c0001t0023g0030 a0001c0001t0032g0020 a0001c0001t0033g0021 a0001c0021t0022g0039 a0004c0012t0002g0008	25	304	0.0822	22	c.436 others(39): Show c.4369+282_4369+303dupATATATATATATATATATATAT	DENND4A	ENSG00000174485.16	transcript	ENST00000443035.8	protein_coding	24/32			chr15	TogoVar
DENND4A_chr15_65654123_65797293	65720947	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01070.hp1 HG01071.hp1 others(13): Show HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01109.hp2 HG02809.hp1 HG03225.hp2 HG04184.hp1 HG04184.hp2 NA19000.hp2 NA19003.hp1 NA19011.hp1 NA19065.hp2 NA19084.hp1 NA19087.hp1 NA19089.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0001t0012 a0001c0001t0029 others(6): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0029 a0001c0001t0042 a0001c0002t0001 a0001c0002t0003 a0001c0002t0013 a0001c0005t0012 a0002c0003t0031	a0001c0001t0001g0242 a0001c0001t0012g0140 a0001c0001t0029g0122 others(13): Show a0001c0001t0001g0242 a0001c0001t0012g0140 a0001c0001t0029g0122 a0001c0001t0042g0235 a0001c0002t0001g0200 a0001c0002t0001g0212 a0001c0002t0001g0221 a0001c0002t0001g0270 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0002t0001g0287 a0001c0002t0003g0209 a0001c0002t0003g0213 a0001c0002t0013g0275 a0001c0005t0012g0136 a0002c0003t0031g0304	16	304	0.0526	22	c.158 others(41): Show c.1588+1879_1588+1900dupTATATATATATATATATATATA	DENND4A	ENSG00000174485.16	transcript	ENST00000443035.8	protein_coding	12/32			chr15	TogoVar
DENND4A_chr15_65654123_65797293	65720947	T T	TTCTATAT others(15): Show TTCTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0114 a0001c0001t0029g0114	1	304	0.0033	22	c.158 others(41): Show c.1588+1900_1588+1901insTATATATATATATATATATAGA	DENND4A	ENSG00000174485.16	transcript	ENST00000443035.8	protein_coding	12/32			chr15	TogoVar
DENND4A_chr15_65654123_65797293	65720947	T T	TTTTATAT others(15): Show TTTTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0005 a0001c0010t0005	a0001c0010t0005g0103 a0001c0010t0005g0103	1	304	0.0033	22	c.158 others(41): Show c.1588+1900_1588+1901insTATATATATATATATATATAAA	DENND4A	ENSG00000174485.16	transcript	ENST00000443035.8	protein_coding	12/32			chr15	TogoVar
DENND4A_chr15_65654123_65797293	65720965	A A	ATACAAAT others(15): Show ATACAAATATGTATATGTATATG	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0260 a0001c0002t0003g0260	1	304	0.0033	22	c.158 others(41): Show c.1588+1882_1588+1883insCATATACATATACATATTTGTA	DENND4A	ENSG00000174485.16	transcript	ENST00000443035.8	protein_coding	12/32			chr15	TogoVar
DENND4C_chr9_19225693_19379281	19356788	T T	TGTGAGAG others(15): Show TGTGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03130.hp2 HG02145.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0166 a0001c0002t0002g0168 a0001c0002t0002g0166 a0001c0002t0002g0168	2	292	0.0069	22	c.478 others(39): Show c.4782-183_4782-182insTGAGAGAGAGAGAGAGAGAGAG	DENND4C	ENSG00000137145.21	transcript	ENST00000434457.7	protein_coding	26/32		INFO_REALIGN_3_PRIME	chr9	TogoVar
DENND4C_chr9_19225693_19379281	19356788	T T	TGTGTGAG others(15): Show TGTGTGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02630.hp2 HG02818.hp1 others(3): Show HG02615.hp2 HG02630.hp2 HG02818.hp1 HG02895.hp1 HG02965.hp2 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0017 a0001c0002t0023 a0001c0002t0013 a0001c0002t0017 a0001c0002t0023	a0001c0002t0013g0011 a0001c0002t0013g0012 a0001c0002t0013g0013 others(3): Show a0001c0002t0013g0011 a0001c0002t0013g0012 a0001c0002t0013g0013 a0001c0002t0017g0008 a0001c0002t0017g0009 a0001c0002t0023g0010	6	292	0.0206	22	c.478 others(39): Show c.4782-183_4782-182insTGTGAGAGAGAGAGAGAGAGAG	DENND4C	ENSG00000137145.21	transcript	ENST00000434457.7	protein_coding	26/32		INFO_REALIGN_3_PRIME	chr9	TogoVar
DENND4C_chr9_19225693_19379281	19356810	A A	AGAGAGAG others(15): Show AGAGAGAGAGAGAGAGAGAGAGT	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA19240.hp1 HG02738.hp1 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0005 a0001c0002 a0004c0005	a0001c0002t0014 a0004c0005t0002 a0001c0002t0014 a0004c0005t0002	a0001c0002t0014g0156 a0004c0005t0002g0124 a0001c0002t0014g0156 a0004c0005t0002g0124	2	292	0.0069	22	c.478 others(39): Show c.4782-155_4782-154insAGAGAGAGAGAGAGTGAGAGAG	DENND4C	ENSG00000137145.21	transcript	ENST00000434457.7	protein_coding	26/32		INFO_REALIGN_3_PRIME	chr9	TogoVar
DENND5B_chr12_31377226_31596136	31545950	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03492.hp2 NA18949.hp2 HG03492.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0227 a0001c0001t0006g0264 a0001c0001t0006g0227 a0001c0001t0006g0264	2	308	0.0065	22	c.127 others(41): Show c.127+44755_127+44756insTTTTTTTTTTTTTTTTTTTTTT	DENND5B	ENSG00000170456.16	transcript	ENST00000389082.10	protein_coding	1/20			chr12	TogoVar
DENND6B_chr22_50304030_50332012	50307773	G G	GGAGGGGG others(15): Show GGAGGGGGGAGGGGGAGGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	326	0.0031	22	c.43 others(33): Show c.4365_*4366insTTCCCCCTCCCCCTCCCCCCTC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding		1256		chr22	TogoVar
DENND6B_chr22_50304030_50332012	50307818	A A	AGTGAGGG others(15): Show AGTGAGGGGGAGGGGAGAGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	326	0.0031	22	c.43 others(33): Show c.4320_*4321insCCCCCTCTCCCCTCCCCCTCAC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding		1211		chr22	TogoVar
DENND6B_chr22_50304030_50332012	50317123	G G	GAGGACAG others(15): Show GAGGACAGGGTGGGGGGGCGGCA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02071.hp1 HG02109.hp1 others(26): Show HG01891.hp1 HG02071.hp1 HG02109.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02572.hp1 HG02723.hp1 HG02886.hp1 HG02922.hp2 HG02976.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03540.hp1 HG03579.hp2 NA18939.hp2 NA18944.hp2 NA18945.hp1 NA18951.hp1 NA18993.hp2 NA19240.hp1 NA20129.hp2	a0001 a0009 a0001 a0009	a0001c0004 a0001c0006 a0009c0023 a0001c0004 a0001c0006 a0009c0023	a0001c0004t0003 a0001c0004t0004 a0001c0004t0026 others(3): Show a0001c0004t0003 a0001c0004t0004 a0001c0004t0026 a0001c0006t0004 a0001c0006t0047 a0009c0023t0004	a0001c0004t0003g0171 a0001c0004t0004g0170 a0001c0004t0004g0176 others(26): Show a0001c0004t0003g0171 a0001c0004t0004g0170 a0001c0004t0004g0176 a0001c0004t0004g0177 a0001c0004t0004g0178 a0001c0004t0004g0179 a0001c0004t0004g0181 a0001c0004t0004g0182 a0001c0004t0004g0183 a0001c0004t0004g0184 a0001c0004t0004g0185 a0001c0004t0004g0186 a0001c0004t0004g0187 a0001c0004t0004g0188 a0001c0004t0004g0191 a0001c0004t0004g0267 a0001c0004t0004g0315 a0001c0004t0004g0316 a0001c0004t0004g0317 a0001c0004t0004g0318 a0001c0004t0004g0319 a0001c0004t0004g0320 a0001c0004t0026g0189 a0001c0006t0004g0172 a0001c0006t0004g0173 a0001c0006t0004g0174 a0001c0006t0004g0190 a0001c0006t0047g0169 a0009c0023t0004g0180	29	326	0.0890	22	c.453 others(37): Show c.453+148_453+169dupTGCCGCCCCCCCACCCTGTCCT	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DENR_chr12_122747824_122776064	122750627	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00639.hp1 HG01516.hp2 others(13): Show HG00621.hp1 HG00639.hp1 HG01516.hp2 HG01517.hp1 HG01943.hp1 HG01975.hp2 HG02056.hp2 HG02523.hp1 HG02738.hp2 NA18948.hp2 NA18971.hp2 NA18982.hp1 NA18995.hp1 NA19080.hp2 NA19084.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0041 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0060 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0060 a0001c0001t0003g0018 a0001c0001t0004g0001 a0001c0001t0004g0007 a0001c0001t0004g0097 a0001c0001t0041g0001 a0001c0003t0001g0001	16	364	0.0440	22	c.-23 others(33): Show c.-2333_-2332insAAAAAAAAAAAAAAAAAAAAAA	DENR	ENSG00000139726.11	transcript	ENST00000280557.11	protein_coding		2196		chr12	TogoVar
DEPDC1B_chr5_60591912_60705166	60667960	T T	TAAAATGG others(15): Show TAAAATGGATATTATATATATAA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18967.hp2 NA18962.hp1 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0086 a0001c0001t0001g0089	2	292	0.0069	22	c.314 others(41): Show c.314+19001_314+19002insTTATATATATAATATCCATTTT	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DEPDC1B_chr5_60591912_60705166	60668087	A A	ATATATAT others(15): Show ATATATATATAAAATGCATATTT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	292	0.0034	22	c.314 others(41): Show c.314+18874_314+18875insAAATATGCATTTTATATATATA	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DEPDC1B_chr5_60591912_60705166	60668087	A A	ATATATAT others(15): Show ATATATATATAAAATGGATATTT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02809.hp1 NA18983.hp1 HG02129.hp2 HG02809.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0202 a0001c0001t0001g0209 a0001c0001t0001g0031 a0001c0001t0001g0202 a0001c0001t0001g0209	3	292	0.0103	22	c.314 others(41): Show c.314+18874_314+18875insAAATATCCATTTTATATATATA	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DEPDC1B_chr5_60591912_60705166	60668113	A A	ATATATAT others(15): Show ATATATATATAAAATGGATATTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	292	0.0034	22	c.314 others(41): Show c.314+18848_314+18849insAAATATCCATTTTATATATATA	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DEPDC1B_chr5_60591912_60705166	60677326	A A	ACACACAC others(15): Show ACACACACACTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	292	0.0034	22	c.314 others(39): Show c.314+9635_314+9636insAGAGAGAGAGAGAGTGTGTGTG	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DEPDC5_chr22_31749019_31913033	31864501	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18948.hp1 HG00609.hp2 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0145 a0001c0001t0001g0110 a0001c0001t0001g0145	2	204	0.0098	22	c.333 others(41): Show c.3330+3071_3330+3092dupATATATATATATATATATATAT	DEPDC5	ENSG00000100150.20	transcript	ENST00000651528.2	protein_coding	33/42		INFO_REALIGN_3_PRIME	chr22	TogoVar
DEPDC5_chr22_31749019_31913033	31864530	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	204	0.0049	22	c.333 others(41): Show c.3330+3100_3330+3101insATATATATATATATATATTTAT	DEPDC5	ENSG00000100150.20	transcript	ENST00000651528.2	protein_coding	33/42		INFO_REALIGN_3_PRIME	chr22	TogoVar
DEPDC5_chr22_31749019_31913033	31902408	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0171 a0001c0002t0006g0171	1	204	0.0049	22	c.443 others(39): Show c.4436+613_4436+634dupTATATATATATATATATATATA	DEPDC5	ENSG00000100150.20	transcript	ENST00000651528.2	protein_coding	41/42		INFO_REALIGN_3_PRIME	chr22	TogoVar
DEPTOR_chr8_119868722_120055918	119900380	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0019 a0002c0001t0003g0019	1	198	0.0051	22	c.122 others(41): Show c.122+26415_122+26436dupTTTTTTTTTTTTTTTTTTTTTT	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DERL3_chr22_23829503_23844006	23830649	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	431	0.0023	22	c.61 others(33): Show c.6198_*6219dupAAAAAAAAAAAAAAAAAAAAAA	DERL3	ENSG00000099958.15	transcript	ENST00000318109.12	protein_coding		3853		chr22	TogoVar
DESI1_chr22_41593028_41626043	41594338	T T	TGGGGGGG others(15): Show TGGGGGGGGTGGGGGAGGCGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01175.hp2 HG02257.hp2 others(2): Show HG01106.hp2 HG01175.hp2 HG02257.hp2 HG03098.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0156 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0156 a0001c0001t0002g0049	5	308	0.0162	22	c.67 others(33): Show c.6758_*6759insCACCGCCTCCCCCACCCCCCCC	DESI1	ENSG00000100418.8	transcript	ENST00000263256.7	protein_coding		3689		chr22	TogoVar
DESI1_chr22_41593028_41626043	41594355	C C	CGGTGGGG others(15): Show CGGTGGGGGCGGGTGGTGGCGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02630.hp2 HG03209.hp1 others(2): Show HG02257.hp1 HG02630.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0027 a0001c0001t0011 a0001c0001t0027	a0001c0001t0011g0034 a0001c0001t0011g0225 a0001c0001t0011g0226 others(2): Show a0001c0001t0011g0034 a0001c0001t0011g0225 a0001c0001t0011g0226 a0001c0001t0011g0227 a0001c0001t0027g0224	5	308	0.0162	22	c.67 others(33): Show c.6741_*6742insCCCGCCACCACCCGCCCCCACC	DESI1	ENSG00000100418.8	transcript	ENST00000263256.7	protein_coding		3672		chr22	TogoVar
DESI1_chr22_41593028_41626043	41594358	T T	TGGGGGGG others(15): Show TGGGGGGGGTGGGGGAGGCGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	308	0.0033	22	c.67 others(33): Show c.6738_*6739insCACCGCCTCCCCCACCCCCCCC	DESI1	ENSG00000100418.8	transcript	ENST00000263256.7	protein_coding		3669		chr22	TogoVar
DESI1_chr22_41593028_41626043	41594377	G G	GTGGGGGG others(15): Show GTGGGGGGGGTGGGGGAGGCGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0085 a0001c0001t0026g0085	1	308	0.0033	22	c.67 others(33): Show c.6719_*6720insACCGCCTCCCCCACCCCCCCCA	DESI1	ENSG00000100418.8	transcript	ENST00000263256.7	protein_coding		3650		chr22	TogoVar
DESI1_chr22_41593028_41626043	41594378	T T	TGGGGGGG others(15): Show TGGGGGGGGTGGGGGAGGCGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0163	1	308	0.0033	22	c.67 others(33): Show c.6718_*6719insCACCGCCTCCCCCACCCCCCCC	DESI1	ENSG00000100418.8	transcript	ENST00000263256.7	protein_coding		3649		chr22	TogoVar
DESI1_chr22_41593028_41626043	41594378	T T	TGGGGGGG others(15): Show TGGGGGGGTGGGGGAGGCGGTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	308	0.0033	22	c.67 others(33): Show c.6718_*6719insCCACCGCCTCCCCCACCCCCCC	DESI1	ENSG00000100418.8	transcript	ENST00000263256.7	protein_coding		3649		chr22	TogoVar
DESI1_chr22_41593028_41626043	41594386	T T	TGGGGGAG others(15): Show TGGGGGAGGCGGTGGGGGGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	308	0.0033	22	c.67 others(33): Show c.6710_*6711insCACCCCCCCCACCGCCTCCCCC	DESI1	ENSG00000100418.8	transcript	ENST00000263256.7	protein_coding		3641		chr22	TogoVar
DESI2_chr1_244648126_244714033	244713908	G G	GACAGTCC others(15): Show GACAGTCCTCAACCTCCGCCAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0336 a0001c0001t0001g0336	1	360	0.0028	22	c.81 others(33): Show c.8119_*8120insACAGTCCTCAACCTCCGCCAGA	DESI2	ENSG00000121644.19	transcript	ENST00000302550.16	protein_coding		4876		chr1	TogoVar
DEUP1_chr11_93325742_93443470	93392920	T T	TCTCCTCC others(15): Show TCTCCTCCCTCCTCTTCCTCCTC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0150 a0001c0001t0005g0150	1	368	0.0027	22	c.104 others(41): Show c.1042-1513_1042-1492dupCTCCCTCCTCTTCCTCCTCCTC	DEUP1	ENSG00000165325.15	transcript	ENST00000298050.9	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
DGCR6L_chr22_20309238_20325060	20322829	G G	GTGCGCGC others(15): Show GTGCGCGCGCTCGCGCGCGCGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	392	0.0026	22	c.-28 others(33): Show c.-2842_-2841insTGCGCGCGCGCGAGCGCGCGCA	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2770		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGCGCGCG others(15): Show TGCGCGCGCGCGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	392	0.0026	22	c.-28 others(33): Show c.-2845_-2844insGCGTGCGCGCGCGCGCGCGCGC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGCGCG others(15): Show TGTGCGCGCGCGCGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02717.hp2 HG02145.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	392	0.0051	22	c.-28 others(33): Show c.-2845_-2844insGCATGCGCGCGCGCGCGCGCAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGCG others(15): Show TGTGTGCGCGCGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	392	0.0026	22	c.-28 others(33): Show c.-2845_-2844insGCGTGCGCGCGCGCGCGCACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar

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Search Results (Total: 10000 hits)