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
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0092 a0002c0002t0002g0092	1	356	0.0028	44	c.848 others(59): Show c.848+373_848+374insATATATATATATATATATATATATATTTTT TTTTTTTTTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0083 a0002c0002t0002g0083	1	356	0.0028	44	c.848 others(59): Show c.848+373_848+374insATATATATATATATATATATATATATATTT TTTTTTTTTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0093 a0002c0002t0002g0093	1	356	0.0028	44	c.848 others(59): Show c.848+373_848+374insATATATATATATATATATATATATATATAT TTTTTTTTTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL3_chr7_134981508_135140778	135026244	A A	ATTATTTT others(37): Show ATTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTATT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02622.hp1 HG03098.hp1 HG01884.hp2 HG02622.hp1 HG03098.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0001 a0006c0007t0001 a0001c0001t0001 a0006c0007t0001	a0001c0001t0001g0061 a0006c0007t0001g0249 a0006c0007t0001g0250 a0001c0001t0001g0061 a0006c0007t0001g0249 a0006c0007t0001g0250	3	320	0.0094	44	c.419 others(61): Show c.419-6559_419-6558insATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTT	AGBL3	ENSG00000146856.14	transcript	ENST00000436302.6	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AGBL3_chr7_134981508_135140778	135026244	A A	ATTATTTT others(37): Show ATTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02258.hp1 HG02895.hp2 others(5): Show HG01496.hp2 HG02258.hp1 HG02895.hp2 HG02897.hp2 HG03654.hp1 HG03834.hp2 NA18966.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0001g0070 a0001c0001t0001g0078 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0005g0201	8	320	0.0250	44	c.419 others(61): Show c.419-6597_419-6554dupATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTT	AGBL3	ENSG00000146856.14	transcript	ENST00000436302.6	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AGMO_chr7_15195317_15567015	15354345	C C	CGTGTATA others(37): Show CGTGTATATACGTACGCGTGTATATAGACGCGTGTATATAGACGT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02300.hp1 HG02630.hp2 HG01257.hp1 HG02300.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0001t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0001g0205 a0001c0001t0002g0197 a0001c0003t0001g0165 a0001c0001t0001g0205 a0001c0001t0002g0197 a0001c0003t0001g0165	3	236	0.0127	44	c.126 others(65): Show c.1263+11168_1263+11169insACGTCTATATACACGCGTCTATAT ACACGCGTACGTATATACAC	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15354345	C C	CGTGTATA others(37): Show CGTGTATATACGTATGCGTGTATATAGACGCGTGTATATAGACGT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0195 a0001c0001t0002g0195	1	236	0.0042	44	c.126 others(65): Show c.1263+11168_1263+11169insACGTCTATATACACGCGTCTATAT ACACGCATACGTATATACAC	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15432379	T T	TACACACA others(37): Show TACACACACACACATATATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0225 a0004c0008t0001g0225	1	236	0.0042	44	c.410 others(61): Show c.410-1272_410-1271insGTATGTATATATATATATATATATATAT ATATGTGTGTGTGTGT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15530385	T T	TATATTCT others(37): Show TATATTCTATATACGTATTTCCATATATTCTATATACGTATTTCC	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA20300.hp1 HG02717.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0003c0006t0004 a0001c0001t0001 a0003c0006t0004	a0001c0001t0001g0075 a0003c0006t0004g0076 a0001c0001t0001g0075 a0003c0006t0004g0076	2	236	0.0085	44	c.409 others(63): Show c.409+14386_409+14387insGGAAATACGTATATAGAATATATGGA AATACGTATATAGAATAT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGO4_chr1_35803016_35862890	35818658	A A	AAAGAAAG others(37): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0027	1	270	0.0037	44	c.185 others(61): Show c.185+1614_185+1615insAAAGAAAGAAAGAAAGAAAGAAAGGAAG AAAGGAAGGAAGGAAG	AGO4	ENSG00000134698.11	transcript	ENST00000373210.4	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGO4_chr1_35803016_35862890	35818658	A A	AAAGAAAG others(37): Show AAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0028 a0001c0001t0006g0028	1	270	0.0037	44	c.185 others(61): Show c.185+1614_185+1615insAAAGAAAGAAAGAAAGAAAGGAAGAAAG GAAGGAAGGAAGGAAG	AGO4	ENSG00000134698.11	transcript	ENST00000373210.4	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGR3_chr7_16854412_16886983	16880523	T T	TTCTTCCT others(37): Show TTCTTCCTCCTCTCCTCTCCCCTCCCCTCTCCCTCCCCATCCTTC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	458	0.0022	44	c.-28 others(61): Show c.-28+1420_-28+1421insGAAGGATGGGGAGGGAGAGGGGAGGGGA GAGGAGAGGAGGAAGA	AGR3	ENSG00000173467.9	transcript	ENST00000310398.7	protein_coding	1/7			chr7	TogoVar
AHCYL2_chr7_129220030_129435211	129365628	G G	GTATATAT others(37): Show GTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02074.hp1 HG02135.hp1 others(4): Show HG01099.hp1 HG02074.hp1 HG02135.hp1 HG02165.hp2 HG02572.hp2 HG03195.hp1 HG03491.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0003c0004t0001	a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0036 others(4): Show a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0036 a0001c0001t0006g0116 a0001c0001t0007g0285 a0001c0001t0007g0287 a0003c0004t0001g0042	7	292	0.0240	44	c.364 others(63): Show c.364-13993_364-13992insATATATATATATATATATATATATAT ATATATATATATATATAT	AHCYL2	ENSG00000158467.17	transcript	ENST00000325006.8	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AHI1_chr6_135278532_135502740	135324551	C C	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0010 a0001c0015t0010	a0001c0015t0010g0104 a0001c0015t0010g0104	1	220	0.0046	44	c.316 others(63): Show c.3166-1228_3166-1227insATATATATATATATATATATATATAT ATATATATATATATATAT	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	24/28			chr6	TogoVar
AHNAK2_chr14_104932253_104983374	104934132	G G	GGCGACCC others(37): Show GGCGACCCGGGGCTGAGGGGACGGGGAGGGCGGGAGGGGACCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0067 a0067	a0067c0058 a0067c0058	a0067c0058t0002 a0067c0058t0002	a0067c0058t0002g0302 a0067c0058t0002g0302	1	356	0.0028	44	c.39 others(55): Show c.3930_*3931insGCGGGTCCCCTCCCGCCCTCCCCGTCCCCTCAGC CCCGGGTCGC	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding		3120		chr14	TogoVar
AHRR_chr5_316714_443285	318527	G G	GGAGAGGG others(37): Show GGAGAGGGAACCCAGGCGTGACCAGGGAGAAACTGGTGTGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00735.hp2 HG01081.hp2 others(25): Show HG00280.hp2 HG00735.hp2 HG01081.hp2 HG01099.hp2 HG01169.hp1 HG01256.hp1 HG01891.hp1 HG02055.hp2 HG02258.hp1 HG02293.hp1 HG02451.hp1 HG02486.hp2 HG02572.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG03017.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03486.hp1 HG03486.hp2 HG03669.hp1 HG03834.hp1 NA18906.hp1 NA19012.hp1 NA19240.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0002c0002 a0003c0004 others(2): Show a0001c0001 a0002c0002 a0003c0004 a0004c0003 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0001c0001t0027 a0001c0001t0046 a0001c0001t0050 a0001c0001t0057 a0001c0001t0060 a0002c0002t0001 a0002c0002t0006 a0003c0004t0004 a0003c0004t0012 a0004c0003t0010 a0005c0005t0039	a0001c0001t0001g0017 a0001c0001t0001g0152 a0001c0001t0001g0156 others(25): Show a0001c0001t0001g0017 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0263 a0001c0001t0002g0187 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0006g0262 a0001c0001t0007g0219 a0001c0001t0013g0154 a0001c0001t0013g0254 a0001c0001t0027g0153 a0001c0001t0046g0252 a0001c0001t0050g0155 a0001c0001t0057g0251 a0001c0001t0060g0261 a0002c0002t0001g0080 a0002c0002t0001g0107 a0002c0002t0001g0255 a0002c0002t0001g0257 a0002c0002t0006g0095 a0003c0004t0004g0081 a0003c0004t0012g0110 a0004c0003t0010g0157 a0005c0005t0039g0250	28	268	0.1045	44	c.-33 others(55): Show c.-3303_-3302insGAGAGGGAACCCAGGCGTGACCAGGGAGAAACTG GTGTGGGAGA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3186		chr5	TogoVar
AHRR_chr5_316714_443285	340688	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0033 a0004c0003t0033	a0004c0003t0033g0242 a0004c0003t0033g0242	1	268	0.0037	44	c.-10 others(61): Show c.-10-3204_-10-3203insATATATATATATATATATATATATATAT ATATATATATTTTTTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	340688	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	268	0.0037	44	c.-10 others(61): Show c.-10-3204_-10-3203insATATATATATATATATATATATATATAT ATATATTTTTTTTTTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	340688	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0202 a0002c0002t0001g0202	1	268	0.0037	44	c.-10 others(61): Show c.-10-3204_-10-3203insATATATATATATATATATATATATATAT ATTTTTTTTTTTTTTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	391770	G G	GCGATGAG others(37): Show GCGATGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0155 a0001c0001t0050g0155	1	268	0.0037	44	c.351 others(63): Show c.351+15055_351+15056insGATGAGGGCGCAGGGCGAGGCAGGGC CAGAGCGTGCACGGACAC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAATAATA others(37): Show AAATAATATACATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0320 a0001c0001t0002g0320	1	442	0.0023	44	c.135 others(59): Show c.135+477_135+478insATAATATACATATATATATATATATATATA TATATATATATATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AK3_chr9_4704556_4746202	4735254	T T	TACACATA others(37): Show TACACATATATAAATATATATACACATATATAAATATATATACAC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0239 a0001c0001t0027g0239	1	462	0.0022	44	c.151 others(61): Show c.151+5682_151+5683insGTGTATATATATTTATATATGTGTATAT ATATTTATATATGTGT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	1/4			chr9	TogoVar
AK5_chr1_77277019_77564966	77367569	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATAATATATATGT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG03209.hp2 HG03540.hp2 others(3): Show HG00408.hp2 HG03209.hp2 HG03540.hp2 NA18966.hp2 NA18969.hp2 NA18986.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0006 a0001c0001 a0002c0002 a0002c0006	a0001c0001t0001 a0001c0001t0003 a0002c0002t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0005 a0002c0002t0013 a0002c0006t0008	a0001c0001t0001g0078 a0001c0001t0003g0159 a0001c0001t0003g0171 others(3): Show a0001c0001t0001g0078 a0001c0001t0003g0159 a0001c0001t0003g0171 a0002c0002t0005g0186 a0002c0002t0013g0232 a0002c0006t0008g0086	6	284	0.0211	44	c.891 others(63): Show c.891+27011_891+27012insTATATATATATATATATATATATAAT ATATATGTTATATATATA	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK6_chr5_69345984_69374520	69346167	G G	GCATCTGT others(37): Show GCATCTGTAGTTCCAGCTACTTGGAGGCTGAGGTGGGAGGATCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	421	0.0024	44	c.58 others(55): Show c.5893_*5894insGTGATCCTCCCACCTCAGCCTCCAAGTAGCTGGA ACTACAGATG	AK6	ENSG00000085231.14	transcript	ENST00000380822.9	protein_coding		4816		chr5	TogoVar
AK7_chr14_96387128_96494427	96418322	T T	TAAAAAAA others(37): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	316	0.0032	44	c.499 others(61): Show c.499-2485_499-2484insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	AK7	ENSG00000140057.9	transcript	ENST00000267584.9	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP13_chr15_85375603_85754355	85442464	C C	CATAATAT others(37): Show CATAATATATATTATATAATATATATAATATATATTATATTATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03195.hp1 HG01891.hp2 HG03195.hp1	a0001 a0009 a0001 a0009	a0001c0004 a0009c0011 a0001c0004 a0009c0011	a0001c0004t0016 a0009c0011t0043 a0001c0004t0016 a0009c0011t0043	a0001c0004t0016g0131 a0009c0011t0043g0132 a0001c0004t0016g0131 a0009c0011t0043g0132	2	314	0.0064	44	c.-11 others(63): Show c.-11-43229_-11-43186dupAATATATATAATATATATTATATTAT ATATAATATATATTATAT	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr15	TogoVar
AKAP13_chr15_85375603_85754355	85498199	G G	GATATAGA others(37): Show GATATAGATATAGATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0007	a0002c0001t0007g0176 a0002c0001t0007g0176	1	314	0.0032	44	c.33+ others(61): Show c.33+12451_33+12452insGATATAGATATATATATATATATATATA TATATATATATATATA	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr15	TogoVar
AKAP13_chr15_85375603_85754355	85498199	G G	GATATAGA others(37): Show GATATAGATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03942.hp2 NA18964.hp1 HG03942.hp2 NA18964.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0160 a0002c0001t0002g0226 a0002c0001t0002g0160 a0002c0001t0002g0226	2	314	0.0064	44	c.33+ others(61): Show c.33+12451_33+12452insGATATATATATATATATATATATATATA TATATATATATATATA	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr15	TogoVar
AKAP3_chr12_4610518_4654051	4624809	G G	GGTGTGTG others(37): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0336 a0001c0002t0002g0336	1	418	0.0024	44	c.240 others(63): Show c.2406+1686_2406+1687insACACACACACACACACACACACACAC ACACACACACACACACAC	AKAP3	ENSG00000111254.8	transcript	ENST00000228850.6	protein_coding	5/5			chr12	TogoVar
AKAP6_chr14_32324298_32842684	32404691	G G	GATAGATA others(37): Show GATAGATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0098 a0001c0004t0001g0098	1	154	0.0065	44	c.-34 others(63): Show c.-34-28766_-34-28765insGATATATATATATATATATATATATA TATATATATATATATATA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32404691	G G	GATATATA others(37): Show GATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA18947.hp2 HG02559.hp1 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0013 a0001c0001t0001 a0001c0004t0013	a0001c0001t0001g0067 a0001c0004t0013g0116 a0001c0001t0001g0067 a0001c0004t0013g0116	2	154	0.0130	44	c.-34 others(63): Show c.-34-28749_-34-28748insATATATATATATATATATATATATAT ATATATATATATATATAT	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32811255	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0053 a0003c0005t0002g0053	1	154	0.0065	44	c.358 others(65): Show c.3589-10146_3589-10145insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAATA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP7_chr6_131130467_131288532	131241627	G G	GTGTATAC others(37): Show GTGTATACGTATATATATGTGTGTGTGTGTGTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp1 HG01257.hp1 others(24): Show HG00408.hp2 HG00597.hp1 HG01257.hp1 HG01258.hp1 HG01515.hp2 HG01517.hp1 NA18612.hp1 NA18951.hp1 NA18955.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18969.hp2 NA18977.hp1 NA18982.hp1 NA18986.hp1 NA18992.hp1 NA18992.hp2 NA19002.hp2 NA19007.hp1 NA19058.hp2 NA19065.hp2 NA19083.hp1 NA19084.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0018	a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0028 others(24): Show a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0161 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0002g0250 a0001c0001t0002g0259 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0072 a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0196 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0004g0207 a0001c0001t0004g0208 a0001c0001t0006g0290 a0001c0001t0018g0240 a0001c0001t0018g0241	27	304	0.0888	44	c.850 others(63): Show c.850+21820_850+21821insGTATACGTATATATATGTGTGTGTGT GTGTGTGTGTGTGTATAT	AKAP7	ENSG00000118507.19	transcript	ENST00000431975.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
AKAP7_chr6_131130467_131288532	131241627	G G	GTGTGTAT others(37): Show GTGTGTATACGTATATATATGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0251 a0001c0001t0007g0251	1	304	0.0033	44	c.850 others(63): Show c.850+21820_850+21821insGTGTATACGTATATATATGTGTGTGT GTGTGTGTGTGTGTGTAT	AKAP7	ENSG00000118507.19	transcript	ENST00000431975.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
AKIRIN2_chr6_87669860_87707233	87674624	T T	TTATATAT others(37): Show TTATATATATATATATATATTTATAAATATATATATATATAAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02895.hp1 HG02965.hp2 others(2): Show HG02258.hp1 HG02895.hp1 HG02965.hp2 HG03579.hp1 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0007 a0001c0002t0006 a0001c0002t0007	a0001c0002t0006g0053 a0001c0002t0006g0055 a0001c0002t0007g0050 others(2): Show a0001c0002t0006g0053 a0001c0002t0006g0055 a0001c0002t0007g0050 a0001c0002t0007g0051 a0001c0002t0007g0052	5	406	0.0123	44	c.97 others(53): Show c.972_*973insTATTTATATATATATATATTTATAAATATATATATA TATATATA	AKIRIN2	ENSG00000135334.9	transcript	ENST00000257787.6	protein_coding		235		chr6	TogoVar
AKT2_chr19_40225317_40290345	40237787	T T	TGAATGAG others(37): Show TGAATGAGGGCAGCCACCACCCTGGACCTTGGTGGGGAGCCTGGC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01884.hp2 HG02451.hp1 others(4): Show HG01123.hp1 HG01884.hp2 HG02451.hp1 HG02886.hp2 HG03130.hp2 NA18906.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0035 a0001c0001t0001 a0001c0001t0035	a0001c0001t0001g0223 a0001c0001t0001g0230 a0001c0001t0001g0233 others(4): Show a0001c0001t0001g0223 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0265 a0001c0001t0035g0246	7	360	0.0194	44	c.831 others(59): Show c.831+138_831+181dupGCCAGGCTCCCCACCAAGGTCCAGGGTGGT GGCTGCCCTCATTC	AKT2	ENSG00000105221.18	transcript	ENST00000392038.7	protein_coding	9/13			chr19	TogoVar
ALAD_chr9_113381312_113406284	113381412	C C	CCTCCCTC others(37): Show CCTCCCTCCCTCCCTCCCTCTCTCTCTCCCTCCCTCCCTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01256.hp2 HG01258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0127 a0001c0002t0002g0128	2	446	0.0045	44	c.68 others(55): Show c.6887_*6888insAGAGAGAGGGAGGGAGGGAGAGAGAGAGGGAGGG AGGGAGGGAG	ALAD	ENSG00000148218.16	transcript	ENST00000409155.8	protein_coding		4899		chr9	TogoVar
ALCAM_chr3_105361909_105581900	105368223	A A	AAGAGAGA others(37): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA18987.hp1 NA18995.hp2 HG03471.hp2 NA18987.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0002t0003g0318 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0002t0003g0318	3	378	0.0079	44	c.73+ others(57): Show c.73+783_73+784insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGA	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
ALCAM_chr3_105361909_105581900	105368254	A A	AGAGAGAG others(37): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGG	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0030 a0001c0002t0001g0030	1	378	0.0027	44	c.73+ others(57): Show c.73+783_73+784insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GGGAGAGAGAGA	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
ALG6_chr1_63362627_63443553	63422379	A A	ATATAGAT others(37): Show ATATAGATATAAATATATATATTTATATAGATATAAATATATATC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02615.hp1 HG02809.hp2 others(3): Show HG01891.hp2 HG02615.hp1 HG02809.hp2 HG02818.hp1 HG03579.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0012 a0001c0004t0004 a0001c0004t0006 a0001c0003t0012 a0001c0004t0004 a0001c0004t0006	a0001c0003t0012g0239 a0001c0004t0004g0200 a0001c0004t0006g0156 others(3): Show a0001c0003t0012g0239 a0001c0004t0004g0200 a0001c0004t0006g0156 a0001c0004t0006g0198 a0001c0004t0006g0199 a0001c0004t0006g0201	6	388	0.0155	44	c.105 others(63): Show c.1058+2941_1058+2942insTAGATATAAATATATATATTTATATA GATATAAATATATATCTA	ALG6	ENSG00000088035.18	transcript	ENST00000263440.6	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
ALKBH4_chr7_102451238_102469863	102467070	G G	GGTGTGTG others(37): Show GGTGTGTGTGTGTGTGTGTAGGCACCTGGGTTGTTGCTGGGGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0128 a0001c0001t0010g0128	1	404	0.0025	44	c.-22 others(55): Show c.-2235_-2234insACACCCCAGCAACAACCCAGGTGCCTACACACAC ACACACACAC	ALKBH4	ENSG00000160993.4	transcript	ENST00000292566.4	protein_coding		2208		chr7	TogoVar
ALKBH8_chr11_107497727_107570735	107569660	A A	ATATTAAT others(37): Show ATATTAATCAGATAACCAACACTGCTAATTTTAAGTATTGAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	400	0.0025	44	c.-40 others(55): Show c.-4067_-4066insCTTTTCAATACTTAAAATTAGCAGTGTTGGTTAT CTGATTAATA	ALKBH8	ENSG00000137760.15	transcript	ENST00000428149.7	protein_coding		3926		chr11	TogoVar
ALK_chr2_29187774_29926586	29200760	T T	TGTACATA others(37): Show TGTACATATATACGTATATATATACGTATATATGTACATATATAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0005 a0001c0037t0005	a0001c0037t0005g0028 a0001c0037t0005g0028	1	80	0.0125	44	c.393 others(63): Show c.3939-3085_3939-3084insGTATATATGTACATATATACGTATAT ATATACGTATATATGTAC	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	26/28			chr2	TogoVar
ALK_chr2_29187774_29926586	29200760	T T	TGTACATA others(37): Show TGTACATATATACGTATATATATACGTATATATGTATATATATAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02622.hp2 HG03041.hp2 HG02055.hp2 HG02622.hp2 HG03041.hp2	a0001 a0001	a0001c0009 a0001c0025 a0001c0050 a0001c0009 a0001c0025 a0001c0050	a0001c0009t0005 a0001c0025t0011 a0001c0050t0014 a0001c0009t0005 a0001c0025t0011 a0001c0050t0014	a0001c0009t0005g0054 a0001c0025t0011g0074 a0001c0050t0014g0078 a0001c0009t0005g0054 a0001c0025t0011g0074 a0001c0050t0014g0078	3	80	0.0375	44	c.393 others(63): Show c.3939-3085_3939-3084insGTATATATATACATATATACGTATAT ATATACGTATATATGTAC	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	26/28			chr2	TogoVar
ALK_chr2_29187774_29926586	29200760	T T	TGTATATA others(37): Show TGTATATATATACGTATATATATACGTATATATGTACATATATAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03540.hp2 HG01884.hp1 HG03540.hp2	a0001 a0001	a0001c0009 a0001c0020 a0001c0009 a0001c0020	a0001c0009t0005 a0001c0020t0005 a0001c0009t0005 a0001c0020t0005	a0001c0009t0005g0018 a0001c0020t0005g0005 a0001c0009t0005g0018 a0001c0020t0005g0005	2	80	0.0250	44	c.393 others(63): Show c.3939-3085_3939-3084insGTATATATGTACATATATACGTATAT ATATACGTATATATATAC	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	26/28			chr2	TogoVar
ALLC_chr2_3653200_3707671	3690358	T T	TCCCCCTC others(37): Show TCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0002	a0006c0006t0002g0151 a0006c0006t0002g0151	1	274	0.0037	44	c.512 others(61): Show c.512-5338_512-5295dupTCCCCTCCCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALOXE3_chr17_8090900_8123514	8107810	C C	CAAGAAAG others(37): Show CAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0308 a0001c0002t0001g0308	1	422	0.0024	44	c.168 others(61): Show c.1684+614_1684+657dupTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTT	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15			chr17	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(37): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGGAGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0007 a0002c0002t0001g0007	1	410	0.0024	44	c.33 others(55): Show c.3320_*3321insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GGAGGAGAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
AMFR_chr16_56356452_56430545	56397703	A A	AATCATTT others(37): Show AATCATTTATAATATATAAATGTATCATTTATAATATATAAATGT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG01071.hp1 others(8): Show HG00544.hp2 HG00558.hp2 HG01071.hp1 HG01099.hp1 HG01123.hp2 HG01433.hp1 HG01496.hp2 NA18522.hp1 NA18747.hp2 NA18944.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011	a0001c0001t0002g0051 a0001c0001t0002g0073 a0001c0001t0002g0074 others(8): Show a0001c0001t0002g0051 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0104 a0001c0001t0002g0123 a0001c0001t0003g0228 a0001c0001t0007g0053 a0001c0001t0007g0063 a0001c0001t0008g0082 a0001c0001t0008g0130 a0001c0001t0011g0050	11	356	0.0309	44	c.108 others(63): Show c.1085+3986_1085+4029dupACATTTATATATTATAAATGATACAT TTATATATTATAAATGAT	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	8/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56398120	G G	GTATCATT others(37): Show GTATCATTTATAATATATAAATGTATCATTTATAATATATAACTC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	356	0.0028	44	c.108 others(63): Show c.1085+3612_1085+3613insGAGTTATATATTATAAATGATACATT TATATATTATAAATGATA	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	8/13			chr16	TogoVar

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Search Results (Total: 4475 hits)