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
GABBR2_chr9_98283109_98713935	98688394	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0061 a0001c0001t0011g0061	1	164	0.0061	36	c.321 others(55): Show c.321+20022_321+20023insATATATATATATATATATATATATAT ATATATATAT	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	1/18			chr9	TogoVar
GABPB1_chr15_50270389_50360198	50340852	T T	TTATTACA others(29): Show TTATTACATATGGTTTATTACCATATGTAATATTACA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0245 a0001c0001t0006g0245	1	366	0.0027	36	c.-1+ others(53): Show c.-1+14097_-1+14132dupTGTAATATTACATATGGTAATAAACCAT ATGTAATA	GABPB1	ENSG00000104064.18	transcript	ENST00000380877.8	protein_coding	1/8			chr15	TogoVar
GABRA2_chr4_46238548_46395128	46264986	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG06807.hp1 NA18906.hp2 HG03540.hp2 HG06807.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0125 a0001c0001t0137 a0001c0001t0028 a0001c0001t0125 a0001c0001t0137	a0001c0001t0028g0134 a0001c0001t0125g0141 a0001c0001t0137g0154 a0001c0001t0028g0134 a0001c0001t0125g0141 a0001c0001t0137g0154	3	258	0.0116	36	c.857 others(53): Show c.857-2859_857-2858insATATATATATATATATATATATATATAT ATATATAT	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	8/9			chr4	TogoVar
GABRA2_chr4_46238548_46395128	46265490	A A	ATATATAT others(29): Show ATATATATAATATATATACAATATATTGTATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp1 HG02109.hp2 others(16): Show HG01243.hp2 HG01891.hp1 HG02109.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02615.hp2 HG02647.hp1 HG02717.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG03195.hp2 HG03209.hp2 HG03486.hp2 HG06807.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0027 others(13): Show a0001c0001t0001 a0001c0001t0020 a0001c0001t0027 a0001c0001t0030 a0001c0001t0055 a0001c0001t0061 a0001c0001t0077 a0001c0001t0085 a0001c0001t0092 a0001c0001t0099 a0001c0001t0100 a0001c0001t0104 a0001c0001t0114 a0001c0001t0132 a0001c0001t0143 a0001c0001t0144	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0020g0064 others(15): Show a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0020g0064 a0001c0001t0020g0065 a0001c0001t0027g0129 a0001c0001t0030g0001 a0001c0001t0055g0027 a0001c0001t0061g0034 a0001c0001t0077g0049 a0001c0001t0085g0062 a0001c0001t0092g0074 a0001c0001t0099g0091 a0001c0001t0100g0084 a0001c0001t0104g0100 a0001c0001t0114g0118 a0001c0001t0132g0149 a0001c0001t0143g0160 a0001c0001t0144g0161	19	258	0.0736	36	c.857 others(53): Show c.857-3363_857-3362insATATATATACAATATATTGTATATATAT TATATATA	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	8/9			chr4	TogoVar
GABRA2_chr4_46238548_46395128	46265490	A A	ATATATAT others(29): Show ATATATATAATATATATATAATATATTGTATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp2 HG02257.hp1 others(10): Show HG01884.hp1 HG02145.hp2 HG02257.hp1 HG02280.hp2 HG02622.hp1 HG02717.hp2 HG02809.hp2 HG02976.hp1 HG03453.hp2 NA18522.hp2 NA19030.hp1 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0027 a0001c0001t0051 others(9): Show a0001c0001t0001 a0001c0001t0027 a0001c0001t0051 a0001c0001t0128 a0001c0001t0130 a0001c0001t0134 a0001c0001t0135 a0001c0001t0138 a0001c0001t0139 a0001c0001t0140 a0001c0001t0148 a0001c0001t0153	a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0027g0133 others(10): Show a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0027g0133 a0001c0001t0051g0016 a0001c0001t0128g0140 a0001c0001t0130g0148 a0001c0001t0134g0150 a0001c0001t0135g0151 a0001c0001t0138g0155 a0001c0001t0139g0156 a0001c0001t0140g0157 a0001c0001t0148g0165 a0001c0001t0153g0169	13	258	0.0504	36	c.857 others(53): Show c.857-3363_857-3362insATATATATACAATATATTATATATATAT TATATATA	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	8/9			chr4	TogoVar
GABRB2_chr5_161283436_161551725	161469672	C C	CACACATA others(29): Show CACACATACACATACACATACACATACACATACACAT	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	266	0.0038	36	c.238 others(53): Show c.238-9864_238-9829dupATGTGTATGTGTATGTGTATGTGTATGT GTATGTGT	GABRB2	ENSG00000145864.14	transcript	ENST00000393959.6	protein_coding	3/9			chr5	TogoVar
GABRB3_chr15_26538552_26778066	26554039	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	204	0.0049	36	c.108 others(55): Show c.1081-5906_1081-5905insAATATATATATATATATATATATATA TATATATATA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26554190	A A	ATAAAGTG others(29): Show ATAAAGTGTGTATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0095 a0001c0001t0008g0095	1	204	0.0049	36	c.108 others(55): Show c.1081-6057_1081-6056insATATATATATATATATATATATATAT ACACACTTTA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26606805	T T	TATAGATA others(29): Show TATAGATAGATATATCTATAGATAGATATATCTATAG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0078 a0001c0001t0006g0078	1	204	0.0049	36	c.461 others(55): Show c.461+14508_461+14509insCTATAGATATATCTATCTATAGATAT ATCTATCTAT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	4/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26606805	T T	TATCGATA others(29): Show TATCGATAGATATATCGATAGATAGATAGATATATTG	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02015.hp2 HG03654.hp2 others(4): Show HG01258.hp2 HG02015.hp2 HG03654.hp2 NA18967.hp2 NA18980.hp1 NA18989.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0083 a0001c0001t0002g0001 a0001c0001t0002g0088 others(4): Show a0001c0001t0001g0083 a0001c0001t0002g0001 a0001c0001t0002g0088 a0001c0001t0002g0113 a0001c0001t0002g0123 a0001c0001t0002g0129 a0001c0001t0002g0140	7	204	0.0343	36	c.461 others(55): Show c.461+14508_461+14509insCAATATATCTATCTATCTATCGATAT ATCTATCGAT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	4/8			chr15	TogoVar
GABRG3_chr15_26966181_27546984	27265882	G G	GTTTTTTT others(29): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp1 HG01884.hp2 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0013t0023 a0001c0001t0001 a0001c0013t0023	a0001c0001t0001g0073 a0001c0013t0023g0006 a0001c0001t0001g0073 a0001c0013t0023g0006	2	92	0.0217	36	c.271 others(55): Show c.271-60912_271-60911insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27307578	C C	CATAGGTT others(29): Show CATAGGTTTATAGGTTTATATATTTATATATAAACAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0020 a0001c0006t0003g0020	1	92	0.0109	36	c.271 others(55): Show c.271-19230_271-19229insTAGGTTTATAGGTTTATATATTTATA TATAAACATA	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GAL3ST2_chr2_241771822_241809287	241806874	T T	TTCCCTCC others(29): Show TTCCCTCCCTCAGCCCAGGGACCTCTGCAGGCCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	314	0.0032	36	c.27 others(47): Show c.2708_*2709insTCCCTCCCTCAGCCCAGGGACCTCTGCAGGCCAC CC	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2588		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807888	T T	TCCCTCCC others(29): Show TCCCTCCCCCCCTCAACCCAGGGACCTCGGCAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	314	0.0032	36	c.37 others(47): Show c.3722_*3723insCCCTCCCCCCCTCAACCCAGGGACCTCGGCAGGC CA	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3602		chr2	TogoVar
GALC_chr14_87928014_87998182	87936896	C C	CTATATAT others(29): Show CTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03516.hp2 NA19080.hp1 HG03130.hp1 HG03516.hp2 NA19080.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0002c0011 a0001c0001 a0002c0004 a0002c0011	a0001c0001t0001 a0002c0004t0002 a0002c0011t0002 a0001c0001t0001 a0002c0004t0002 a0002c0011t0002	a0001c0001t0001g0060 a0002c0004t0002g0280 a0002c0011t0002g0221 a0001c0001t0001g0060 a0002c0004t0002g0280 a0002c0011t0002g0221	3	370	0.0081	36	c.191 others(55): Show c.1912-2019_1912-2018insTATATATATATATATATATATATATA TATATATATA	GALC	ENSG00000054983.17	transcript	ENST00000261304.7	protein_coding	16/16			chr14	TogoVar
GALK2_chr15_49165247_49336882	49228682	T T	TATATATA others(29): Show TATATATATATATATATGTATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	348	0.0029	36	c.267 others(53): Show c.267-7163_267-7162insATATATATATGTATATATATATATATAT ACATATAT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALK2_chr15_49165247_49336882	49228687	A A	ATATATAT others(29): Show ATATATATATGTATATATATATATATATACATATATT	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0086	1	348	0.0029	36	c.267 others(53): Show c.267-7163_267-7162insATATATATGTATATATATATATATATAC ATATATTT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALK2_chr15_49165247_49336882	49299709	G G	GCTTTCTT others(29): Show GCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0054 a0001c0002t0054	a0001c0002t0054g0184 a0001c0002t0054g0184	1	348	0.0029	36	c.967 others(53): Show c.967+7200_967+7201insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALK2_chr15_49165247_49336882	49299735	T T	TTTCTTTC others(29): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTC	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA19070.hp2 NA18972.hp1 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0186 a0001c0002t0004g0198 a0001c0002t0004g0186 a0001c0002t0004g0198	2	348	0.0058	36	c.967 others(53): Show c.967+7200_967+7201insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTTCTT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALNS_chr16_88808734_88861947	88831205	C C	CGAGGAGA others(29): Show CGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0364 a0001c0001t0001g0364	1	404	0.0025	36	c.100 others(53): Show c.1002+757_1002+792dupCCCACGCACCCCGTGCTCGGCCTCACCG CTCTCCTC	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
GALNS_chr16_88808734_88861947	88831270	T T	TGCGTGGG others(29): Show TGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp1 HG01255.hp1 others(13): Show HG00423.hp2 HG00597.hp1 HG01255.hp1 HG03098.hp1 NA18612.hp2 NA18939.hp1 NA18944.hp2 NA18947.hp1 NA18948.hp2 NA18966.hp1 NA18974.hp2 NA18979.hp2 NA18989.hp2 NA18993.hp2 NA19057.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0175 others(13): Show a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0184 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0295 a0001c0001t0001g0365 a0001c0004t0001g0032 a0001c0004t0001g0033 a0001c0004t0001g0034 a0001c0004t0001g0046 a0001c0004t0001g0056 a0001c0004t0001g0241	16	404	0.0396	36	c.100 others(53): Show c.1002+727_1002+728insTCCCCGTGCTCGGCCTCACCGCTCTCCT CCCCACGC	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
GALNS_chr16_88808734_88861947	88831278	G G	GAGGAGAG others(29): Show GAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0002 a0002	a0002c0026 a0002c0026	a0002c0026t0001 a0002c0026t0001	a0002c0026t0001g0039 a0002c0026t0001g0039	1	404	0.0025	36	c.100 others(53): Show c.1002+719_1002+720insACCCACGCACCCCGTGCTCGGCCTCACC GCTCTCCT	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
GALNS_chr16_88808734_88861947	88831342	A A	AGCGTGGG others(29): Show AGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	404	0.0025	36	c.100 others(53): Show c.1002+620_1002+655dupACCCCGTGCTCGGCCTCACCGCTCTCCT CCCCACGC	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
GALNS_chr16_88808734_88861947	88831495	A A	AGGAGAGC others(29): Show AGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01257.hp1 HG01258.hp1 others(12): Show HG00621.hp1 HG01257.hp1 HG01258.hp1 HG01952.hp2 HG01993.hp2 HG02027.hp2 HG02040.hp2 HG02071.hp2 HG02080.hp1 HG02132.hp2 NA18973.hp2 NA19005.hp1 NA19010.hp2 NA19011.hp1 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0028 a0001c0002t0002g0036 a0001c0002t0002g0051 others(12): Show a0001c0002t0002g0028 a0001c0002t0002g0036 a0001c0002t0002g0051 a0001c0002t0002g0087 a0001c0002t0002g0117 a0001c0002t0002g0132 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0139 a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0002g0142 a0001c0002t0002g0144 a0001c0002t0002g0169 a0001c0002t0002g0181	15	404	0.0371	36	c.100 others(53): Show c.1002+502_1002+503insCCCCCACGCACCCCGTGCTCGGCCTCAC CGCTCTCC	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
GALNS_chr16_88808734_88861947	88831531	A A	AGGAGAGC others(29): Show AGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGG	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0247 a0001c0002t0002g0247	1	404	0.0025	36	c.100 others(53): Show c.1002+466_1002+467insCCCCCACGCACCCCGTGCTCGGCCTCAC CGCTCTCC	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
GALNS_chr16_88808734_88861947	88831558	T T	TGCGTGGG others(29): Show TGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0322 a0001c0001t0001g0322	1	404	0.0025	36	c.100 others(53): Show c.1002+439_1002+440insTCCCCGTGCTCGGCCTCACCGCTCTCCT CCCCACGC	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
GALNS_chr16_88808734_88861947	88831583	C C	CGAGCACG others(29): Show CGAGCACGGGGTGCGTGGGGAGGACAGCGGTGAGGCG	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	404	0.0025	36	c.100 others(53): Show c.1002+414_1002+415insCGCCTCACCGCTGTCCTCCCCACGCACC CCGTGCTC	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
GALNS_chr16_88808734_88861947	88831594	T T	TGCGTGGG others(29): Show TGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0297	1	404	0.0025	36	c.100 others(53): Show c.1002+368_1002+403dupTCCCCGTGCTCGGCCTCACCGCTCTCCT CCCCACGC	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
GALNS_chr16_88808734_88861947	88831603	A A	AGGAGAGC others(29): Show AGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGAGG	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0088 a0001c0002t0002g0088	1	404	0.0025	36	c.100 others(53): Show c.1002+394_1002+395insCCTCCACGCACCCCGTGCTCGGCCTCAC CGCTCTCC	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
GALNS_chr16_88808734_88861947	88831630	A A	AGCGTGGG others(29): Show AGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0008 a0008	a0008c0025 a0008c0025	a0008c0025t0003 a0008c0025t0003	a0008c0025t0003g0080 a0008c0025t0003g0080	1	404	0.0025	36	c.100 others(53): Show c.1002+332_1002+367dupACCCCGTGCTCGGCCTCACCGCTCTCCT CCCCACGC	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
GALNS_chr16_88808734_88861947	88831666	T T	TGCGTGGG others(29): Show TGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGA	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA18953.hp2 NA18956.hp2 others(2): Show HG01081.hp1 NA18953.hp2 NA18956.hp2 NA18969.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0218 others(2): Show a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0218 a0001c0001t0001g0307 a0001c0001t0001g0332	5	404	0.0124	36	c.100 others(53): Show c.1002+331_1002+332insTCCCCGTGCTCGGCCTCACCGCTCTCCT CCCCACGC	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
GALNS_chr16_88808734_88861947	88831691	C C	CGAGCACG others(29): Show CGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01243.hp2 HG01928.hp2 HG00544.hp2 HG01243.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0002 a0001c0004t0001 a0001c0001t0001 a0001c0002t0002 a0001c0004t0001	a0001c0001t0001g0214 a0001c0002t0002g0073 a0001c0004t0001g0038 a0001c0001t0001g0214 a0001c0002t0002g0073 a0001c0004t0001g0038	3	404	0.0074	36	c.100 others(53): Show c.1002+306_1002+307insCGCCTCACCGCTCTCCTCCCCACGCACC CCGTGCTC	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
GALNS_chr16_88808734_88861947	88831727	C C	CGAGCACG others(29): Show CGAGCACGGGGTGCGTGGGGGGGAGAGCGGTGAGGCG	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0129 a0001c0002t0002g0129	1	404	0.0025	36	c.100 others(53): Show c.1002+270_1002+271insCGCCTCACCGCTCTCCCCCCCACGCACC CCGTGCTC	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
GALNS_chr16_88808734_88861947	88831787	G G	GAGCGGTG others(29): Show GAGCGGTGAGGCCGAGCATGGGGTGCGTGGGGAGGAC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0003 a0006c0008t0003	a0006c0008t0003g0287 a0006c0008t0003g0287	1	404	0.0025	36	c.100 others(53): Show c.1002+210_1002+211insGTCCTCCCCACGCACCCCATGCTCGGCC TCACCGCT	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
GALNS_chr16_88808734_88861947	88831864	A A	AGGGTGCG others(29): Show AGGGTGCGTGGGGAGGAGAGCGGTGAGGATGAGCACG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG03239.hp2 HG04204.hp2 HG02071.hp1 HG03239.hp2 HG04204.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0048 a0001c0004t0001g0053 a0001c0004t0001g0172 a0001c0004t0001g0048 a0001c0004t0001g0053 a0001c0004t0001g0172	3	404	0.0074	36	c.100 others(52): Show c.1002+98_1002+133dupCGTGCTCATCCTCACCGCTCTCCTCCCCA CGCACCC	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
GALNT10_chr5_154185733_154425984	154293613	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0231 a0001c0002t0001g0231	1	236	0.0042	36	c.160 others(53): Show c.160-1202_160-1201insATATATATATATATATATATATATATAT ATATATTT	GALNT10	ENSG00000164574.16	transcript	ENST00000297107.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GALNT13_chr2_153866922_154458979	153884766	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02602.hp2 HG02027.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0005 a0001c0001t0009	a0001c0001t0005g0119 a0001c0001t0009g0104 a0001c0001t0005g0119 a0001c0001t0009g0104	2	214	0.0094	36	c.-17 others(57): Show c.-177+12483_-177+12484insATATATATATATATATATATATAT ATATATATATAT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154269906	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02698.hp2 NA18947.hp1 others(2): Show HG02135.hp2 HG02698.hp2 NA18947.hp1 NA18998.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 others(2): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0028	a0001c0001t0004g0002 a0001c0001t0006g0112 a0001c0001t0009g0089 others(2): Show a0001c0001t0004g0002 a0001c0001t0006g0112 a0001c0001t0009g0089 a0001c0001t0010g0200 a0001c0001t0028g0040	5	214	0.0234	36	c.975 others(55): Show c.975+10787_975+10788insATATATATATATATATATATATATAT ATATATATAT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154269906	G G	GTGTATAT others(29): Show GTGTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	214	0.0047	36	c.975 others(55): Show c.975+10769_975+10770insGTATATATATATATATATATATATAT ATATATATAT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154269906	G G	GTGTGTAT others(29): Show GTGTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	214	0.0047	36	c.975 others(55): Show c.975+10769_975+10770insGTGTATATATATATATATATATATAT ATATATATAT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT15_chr3_16169680_16235165	16233094	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	388	0.0026	36	c.55 others(47): Show c.5594_*5595insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	GALNT15	ENSG00000131386.20	transcript	ENST00000339732.10	protein_coding		2930		chr3	TogoVar
GALNT17_chr7_71127144_71718599	71162144	C C	CCTTCCTT others(29): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	76	0.0132	36	c.238 others(55): Show c.238+29130_238+29131insTCCTTCCTTTCTTCCTTCCTTCCTTC CTTCCTTCCT	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71201241	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0038 a0001c0001t0004g0038	1	76	0.0132	36	c.238 others(55): Show c.238+68217_238+68218insTATATATATATATATATATATATATA TATATATATA	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71319094	T T	TTTTCTTT others(29): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0072 a0001c0001t0010g0072	1	76	0.0132	36	c.239 others(55): Show c.239-16455_239-16454insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71319096	A A	ATCTATCT others(29): Show ATCTATCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01346.hp2 NA19000.hp2 HG01258.hp1 HG01346.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0012 a0001c0002t0007 a0001c0007t0020 a0001c0001t0012 a0001c0002t0007 a0001c0007t0020	a0001c0001t0012g0014 a0001c0002t0007g0060 a0001c0007t0020g0005 a0001c0001t0012g0014 a0001c0002t0007g0060 a0001c0007t0020g0005	3	76	0.0395	36	c.239 others(55): Show c.239-16451_239-16450insATCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71319096	A A	ATCTTTCT others(29): Show ATCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01261.hp1 HG01433.hp2 others(4): Show HG01258.hp2 HG01261.hp1 HG01433.hp2 HG02109.hp1 HG02922.hp2 HG03130.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0002t0010 a0001c0004t0003 a0001c0004t0004 a0001c0008t0003	a0001c0001t0001g0037 a0001c0001t0004g0048 a0001c0001t0012g0008 others(4): Show a0001c0001t0001g0037 a0001c0001t0004g0048 a0001c0001t0012g0008 a0001c0002t0010g0074 a0001c0004t0003g0013 a0001c0004t0004g0030 a0001c0008t0003g0007	7	76	0.0921	36	c.239 others(55): Show c.239-16425_239-16424insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTT	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71693307	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0068 a0001c0003t0014g0068	1	76	0.0132	36	c.150 others(57): Show c.1500+16002_1500+16003insTATATATATATATATATATATATA TATATATATATA	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71701784	T T	TGTATATA others(29): Show TGTATATATATATATATATATACACATATATATATAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	76	0.0132	36	c.150 others(55): Show c.1501-8977_1501-8976insGTATATATATATATATATATACACAT ATATATATAC	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	9/10			chr7	TogoVar
GALNT2_chr1_230062238_230287122	230175611	T T	TCCTCCTC others(29): Show TCCTCCTCCTCCCCCTCCCTCTCCCCTCCTCCTCCTC	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0180 a0001c0002t0001g0180	1	324	0.0031	36	c.127 others(53): Show c.127-2605_127-2604insTCCTCCTCCCCCTCCCTCTCCCCTCCTC CTCCTCCC	GALNT2	ENSG00000143641.10	transcript	ENST00000366672.5	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
GALNT5_chr2_157252705_157323491	157290112	T T	TATATATA others(29): Show TATATATATATATATATATATATATATACATATACAC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0078 a0001c0002t0078	a0001c0002t0078g0247 a0001c0002t0078g0247	1	282	0.0036	36	c.174 others(55): Show c.1741+3979_1741+3980insTATATATATATATATATATATATATA CATATACACA	GALNT5	ENSG00000136542.9	transcript	ENST00000259056.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr2	TogoVar

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Search Results (Total: 8848 hits)