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
GABRA2_chr4_46238548_46395128	46389802	G G	GGAGAGAG others(21): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00733.hp2 NA19085.hp2 HG00733.hp2 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0069 a0001c0002t0197 a0001c0002t0069 a0001c0002t0197	a0001c0002t0069g0042 a0001c0002t0197g0254 a0001c0002t0069g0042 a0001c0002t0197g0254	2	258	0.0078	28	c.-10 others(36): Show c.-106_-79dupTCTCTCTCTCTCTCTCTCTCTCTCTCTC	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	1/10	1097		chr4	TogoVar
GABRA4_chr4_46913900_46998581	46950716	A A	AAAATAAA others(21): Show AAAATAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01361.hp1 NA18983.hp1 HG01255.hp2 HG01361.hp1 NA18983.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0004 a0002c0002t0002 a0002c0002t0004	a0002c0002t0002g0062 a0002c0002t0002g0069 a0002c0002t0004g0104 a0002c0002t0002g0062 a0002c0002t0002g0069 a0002c0002t0004g0104	3	370	0.0081	28	c.113 others(49): Show c.1134+14226_1134+14253dupATTTATTTATTTATTTATTTATTT ATTT	GABRA4	ENSG00000109158.11	transcript	ENST00000264318.4	protein_coding	8/8			chr4	TogoVar
GABRB1_chr4_47026567_47431447	47125559	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0050 a0001c0003t0005g0050	1	158	0.0063	28	c.241 others(47): Show c.241-35676_241-35675insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	GABRB1	ENSG00000163288.14	transcript	ENST00000295454.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
GABRB1_chr4_47026567_47431447	47246371	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0027 a0001c0003t0008g0027	1	158	0.0063	28	c.462 others(47): Show c.462-73755_462-73754insCACACACACACACACACACACACACA CA	GABRB1	ENSG00000163288.14	transcript	ENST00000295454.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
GABRB2_chr5_161283436_161551725	161416696	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01517.hp1 NA18954.hp1 HG01517.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0055 a0001c0001t0004 a0001c0001t0055	a0001c0001t0004g0191 a0001c0001t0055g0067 a0001c0001t0004g0191 a0001c0001t0055g0067	2	266	0.0075	28	c.459 others(45): Show c.459-5667_459-5640dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GABRB2	ENSG00000145864.14	transcript	ENST00000393959.6	protein_coding	4/9			chr5	TogoVar
GABRB3_chr15_26538552_26778066	26554021	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03486.hp1 HG03139.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0030 a0001c0001t0008 a0001c0001t0030	a0001c0001t0008g0095 a0001c0001t0030g0138 a0001c0001t0008g0095 a0001c0001t0030g0138	2	204	0.0098	28	c.108 others(47): Show c.1081-5888_1081-5887insTATATATATATATATATATATATATA TA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26554039	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01257.hp1 HG01433.hp1 others(4): Show HG00438.hp2 HG01257.hp1 HG01433.hp1 HG01516.hp1 HG01516.hp2 HG03490.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 a0001c0001t0023	a0001c0001t0002g0070 a0001c0001t0002g0074 a0001c0001t0002g0101 others(4): Show a0001c0001t0002g0070 a0001c0001t0002g0074 a0001c0001t0002g0101 a0001c0001t0003g0106 a0001c0001t0003g0144 a0001c0001t0016g0192 a0001c0001t0023g0089	7	204	0.0343	28	c.108 others(47): Show c.1081-5906_1081-5905insAATATATATATATATATATATATATA TA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26554043	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0019 a0001c0001t0003g0019	1	204	0.0049	28	c.108 others(47): Show c.1081-5910_1081-5909insAATATATATATATATATATATATATA TA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26554176	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	204	0.0049	28	c.108 others(47): Show c.1081-6043_1081-6042insTATATATATATATATATATATATATA TA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26554207	A A	ATATATAT others(21): Show ATATATATATATATATATATTTATTTATT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0011 a0001c0004t0002g0011	1	204	0.0049	28	c.108 others(47): Show c.1081-6074_1081-6073insAATAAATAAATATATATATATATATA TA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26606768	C C	CGATAGAT others(21): Show CGATAGATAGATATATCGATAGATAGATA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0022 a0001c0001t0032g0022	1	204	0.0049	28	c.461 others(47): Show c.461+14545_461+14546insTATCTATCTATCGATATATCTATCTA TC	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	4/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26606768	C C	CTATCGAT others(21): Show CTATCGATAGATATATCTATCGATAGATA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0197 a0001c0001t0015g0197	1	204	0.0049	28	c.461 others(47): Show c.461+14545_461+14546insTATCTATCGATAGATATATCTATCGA TA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	4/8			chr15	TogoVar
GABRG1_chr4_46030769_46129054	46048370	A A	AGAAGGAA others(21): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG03927.hp1 HG01070.hp2 HG01071.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0004 a0001c0002t0005g0069 a0001c0002t0005g0004 a0001c0002t0005g0069	3	308	0.0097	28	c.113 others(47): Show c.1131+3026_1131+3053dupCTTCCTTCCTTCCTTCCTTCCTTCCT TC	GABRG1	ENSG00000163285.8	transcript	ENST00000295452.5	protein_coding	8/8			chr4	TogoVar
GABRG1_chr4_46030769_46129054	46128321	G G	GATATATA others(21): Show GATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02145.hp1 HG02572.hp2 others(3): Show HG02109.hp2 HG02145.hp1 HG02572.hp2 HG02622.hp1 HG02647.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0007 a0001c0002t0004 a0001c0002t0007	a0001c0002t0004g0022 a0001c0002t0004g0024 a0001c0002t0004g0028 others(3): Show a0001c0002t0004g0022 a0001c0002t0004g0024 a0001c0002t0004g0028 a0001c0002t0004g0031 a0001c0002t0007g0052 a0001c0002t0007g0054	6	308	0.0195	28	c.-44 others(39): Show c.-4409_-4408insATATATATATATATATATATATATATAT	GABRG1	ENSG00000163285.8	transcript	ENST00000295452.5	protein_coding		4268		chr4	TogoVar
GABRG2_chr5_162062773_162160526	162109389	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	328	0.0031	28	c.769 others(45): Show c.769+5370_769+5397dupATATATATATATATATATATATATATAT	GABRG2	ENSG00000113327.17	transcript	ENST00000639213.2	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GABRG3_chr15_26966181_27546984	27001888	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0018 a0001c0011t0018	a0001c0011t0018g0004 a0001c0011t0018g0004	1	92	0.0109	28	c.202 others(47): Show c.202+24753_202+24754insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27062434	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0008 a0001c0008t0008	a0001c0008t0008g0002 a0001c0008t0008g0002	1	92	0.0109	28	c.270 others(47): Show c.270+35637_270+35638insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27307261	T T	TTATATGT others(21): Show TTATATGTTTATATATAACCATAGGTTTA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01981.hp1 HG03195.hp1 others(2): Show HG00408.hp1 HG01981.hp1 HG03195.hp1 HG03710.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0001t0012 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0012 a0001c0002t0001 a0001c0002t0006	a0001c0001t0001g0033 a0001c0001t0007g0014 a0001c0001t0012g0025 others(2): Show a0001c0001t0001g0033 a0001c0001t0007g0014 a0001c0001t0012g0025 a0001c0002t0001g0079 a0001c0002t0006g0062	5	92	0.0544	28	c.271 others(47): Show c.271-19469_271-19442dupGGTTTATATATGTTTATATATAACCA TA	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27307363	C C	CCATATAG others(21): Show CCATATAGGTTTATATATTTATATATAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG03492.hp2 HG01433.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0029 a0001c0002t0001 a0001c0002t0029	a0001c0002t0001g0027 a0001c0002t0029g0032 a0001c0002t0001g0027 a0001c0002t0029g0032	2	92	0.0217	28	c.271 others(47): Show c.271-19419_271-19418insACATATAGGTTTATATATTTATATAT AA	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27307391	C C	CCATATAG others(21): Show CCATATAGGTTTATATATTTATATATAAA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0079 a0001c0002t0001g0079	1	92	0.0109	28	c.271 others(47): Show c.271-19357_271-19330dupTAGGTTTATATATTTATATATAAACA TA	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27308167	T T	TATGTTTA others(21): Show TATGTTTATACATCCAAACATATATAAAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02109.hp2 HG01243.hp1 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0026 a0001c0002t0001g0049 a0001c0001t0001g0026 a0001c0002t0001g0049	2	92	0.0217	28	c.271 others(47): Show c.271-18633_271-18632insCATCCAAACATATATAAACATGTTTA TA	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GADD45GIP1_chr19_12948119_12962223	12962192	A A	ATTTCTTT others(21): Show ATTTCTTTCTTTCTTTATTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	372	0.0027	28	c.-49 others(39): Show c.-4981_-4980insGAAAGAAAGAAATAAAGAAAGAAAGAAA	GADD45GIP1	ENSG00000179271.3	transcript	ENST00000316939.3	protein_coding		4970		chr19	TogoVar
GADL1_chr3_30721197_30899661	30805734	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA19030.hp2 HG03209.hp1 NA19030.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0022 a0004c0003t0005 a0001c0001t0022 a0004c0003t0005	a0001c0001t0022g0240 a0004c0003t0005g0118 a0001c0001t0022g0240 a0004c0003t0005g0118	2	282	0.0071	28	c.105 others(47): Show c.1051-4647_1051-4646insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding	11/14			chr3	TogoVar
GADL1_chr3_30721197_30899661	30867439	T T	TATATATA others(21): Show TATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	282	0.0036	28	c.38- others(43): Show c.38-5675_38-5674insGTGTATATATATATATATATATATATAT	GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding	1/14			chr3	TogoVar
GADL1_chr3_30721197_30899661	30867439	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02071.hp2 HG03834.hp2 others(6): Show HG02056.hp2 HG02071.hp2 HG03834.hp2 HG04204.hp2 NA18747.hp2 NA18970.hp2 NA18979.hp1 NA19011.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0081 a0001c0001t0001g0091 a0001c0001t0001g0246 others(6): Show a0001c0001t0001g0081 a0001c0001t0001g0091 a0001c0001t0001g0246 a0001c0001t0001g0258 a0001c0001t0002g0094 a0001c0001t0002g0256 a0001c0001t0003g0241 a0001c0001t0003g0271 a0001c0001t0006g0257	9	282	0.0319	28	c.38- others(43): Show c.38-5675_38-5674insGTATATATATATATATATATATATATAT	GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding	1/14			chr3	TogoVar
GADL1_chr3_30721197_30899661	30895247	T T	TTGTGTGT others(21): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG02083.hp2 HG02109.hp2 others(13): Show HG01081.hp2 HG02083.hp2 HG02109.hp2 HG02630.hp2 HG02683.hp1 HG03098.hp1 HG03209.hp2 NA18955.hp1 NA18955.hp2 NA18984.hp2 NA18992.hp1 NA18994.hp2 NA19000.hp1 NA19002.hp2 NA19011.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0008t0029	a0001c0001t0001g0017 a0001c0001t0001g0028 a0001c0001t0001g0042 others(13): Show a0001c0001t0001g0017 a0001c0001t0001g0028 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0086 a0001c0001t0001g0104 a0001c0001t0002g0022 a0001c0001t0002g0041 a0001c0001t0002g0055 a0001c0001t0003g0051 a0001c0001t0004g0113 a0001c0001t0006g0053 a0001c0001t0007g0077 a0001c0001t0007g0115 a0001c0001t0011g0035 a0001c0008t0029g0059	16	282	0.0567	28	c.-63 others(37): Show c.-634_-633insCACACACACACACACACACACACACACA	GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding		587		chr3	TogoVar
GAGE1_chrX_49594020_49613538	49611374	T T	TTTATTTA others(21): Show TTTATTTATTTATTATTTAGTAATAAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0031 a0001c0001t0004g0031	1	311	0.0032	28	c.53 others(39): Show c.5359_*5360insTTATTTATTTATTATTTAGTAATAAATA	GAGE1	ENSG00000205777.19	transcript	ENST00000381700.11	protein_coding		2837		chrX	TogoVar
GAL3ST4_chr7_100154244_100173617	100172659	G G	GTATATAT others(21): Show GTATATATATATATGTGTGTGTGTGTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 NA20129.hp1 HG02486.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0003t0003 a0002c0002t0001 a0002c0003t0003	a0002c0002t0001g0092 a0002c0003t0003g0072 a0002c0002t0001g0092 a0002c0003t0003g0072	2	402	0.0050	28	c.-43 others(39): Show c.-4330_-4303dupTACACACACACACACATATATATATATA	GAL3ST4	ENSG00000197093.11	transcript	ENST00000360039.9	protein_coding		4043		chr7	TogoVar
GAL3ST4_chr7_100154244_100173617	100172685	G G	GTATATAT others(21): Show GTATATATATATATGTGTGTGTGTGTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02257.hp1 others(13): Show HG01884.hp1 HG01891.hp1 HG02257.hp1 HG02486.hp2 HG02615.hp1 HG02630.hp1 HG02818.hp2 HG02886.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03486.hp2 HG03579.hp1 HG06807.hp2 NA18522.hp1 NA19240.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0005 a0001c0001 a0002c0003 a0004c0005	a0001c0001t0001 a0001c0001t0005 a0002c0003t0003 others(1): Show a0001c0001t0001 a0001c0001t0005 a0002c0003t0003 a0004c0005t0001	a0001c0001t0001g0030 a0001c0001t0001g0045 a0001c0001t0001g0053 others(9): Show a0001c0001t0001g0030 a0001c0001t0001g0045 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0135 a0001c0001t0001g0152 a0001c0001t0001g0158 a0001c0001t0005g0151 a0002c0003t0003g0024 a0004c0005t0001g0068	16	402	0.0398	28	c.-43 others(39): Show c.-4329_-4328insTACACACACACACACATATATATATATA	GAL3ST4	ENSG00000197093.11	transcript	ENST00000360039.9	protein_coding		4069		chr7	TogoVar
GAL3ST4_chr7_100154244_100173617	100172702	T T	TGTGTGTG others(21): Show TGTGTGTGTGTATATATATATATACATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	402	0.0025	28	c.-43 others(39): Show c.-4346_-4345insGCATGTATATATATATATACACACACAC	GAL3ST4	ENSG00000197093.11	transcript	ENST00000360039.9	protein_coding		4086		chr7	TogoVar
GALC_chr14_87928014_87998182	87936896	C C	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02074.hp2 HG02922.hp2 others(6): Show HG01884.hp2 HG02074.hp2 HG02922.hp2 NA18747.hp1 NA18943.hp2 NA18982.hp2 NA19004.hp1 NA19084.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0004 a0001c0001 a0001c0006 a0002c0004	a0001c0001t0001 a0001c0006t0001 a0002c0004t0002 a0001c0001t0001 a0001c0006t0001 a0002c0004t0002	a0001c0001t0001g0103 a0001c0001t0001g0311 a0001c0006t0001g0138 others(5): Show a0001c0001t0001g0103 a0001c0001t0001g0311 a0001c0006t0001g0138 a0002c0004t0002g0028 a0002c0004t0002g0285 a0002c0004t0002g0286 a0002c0004t0002g0288 a0002c0004t0002g0293	9	370	0.0243	28	c.191 others(47): Show c.1912-2019_1912-2018insTATATATATATATATATATATATATA TA	GALC	ENSG00000054983.17	transcript	ENST00000261304.7	protein_coding	16/16			chr14	TogoVar
GALK2_chr15_49165247_49336882	49228682	T T	TATATATA others(21): Show TATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03098.hp2 NA18906.hp2 HG02615.hp2 HG03098.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048	3	348	0.0086	28	c.267 others(45): Show c.267-7163_267-7162insATATATATATATATATACATACATATAT	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(21): Show ATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA18522.hp2 HG01243.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0179 a0001c0002t0011g0180 a0001c0002t0011g0179 a0001c0002t0011g0180	2	348	0.0058	28	c.267 others(45): Show c.267-7163_267-7162insATATATATATATATATATTTTTTTTTTT	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(21): Show GCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01884.hp2 HG03491.hp2 others(1): Show HG00741.hp2 HG01884.hp2 HG03491.hp2 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0003 a0001c0002t0004	a0001c0002t0003g0139 a0001c0002t0004g0174 a0001c0002t0004g0178 others(1): Show a0001c0002t0003g0139 a0001c0002t0004g0174 a0001c0002t0004g0178 a0001c0002t0004g0185	4	348	0.0115	28	c.967 others(45): Show c.967+7173_967+7200dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT	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(21): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0187 a0001c0002t0004g0187	1	348	0.0029	28	c.967 others(45): Show c.967+7200_967+7201insCTTTCTTTCTTTCTTTCTTTCTTTCCTT	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(21): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0163 a0001c0002t0003g0163	1	348	0.0029	28	c.967 others(45): Show c.967+7200_967+7201insCTTTCTTTCTTTCTTTCTTTCTTTTCTT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALNT10_chr5_154185733_154425984	154293613	A A	ATATATAT others(21): Show ATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0173 a0001c0002t0005g0173	1	236	0.0042	28	c.160 others(45): Show c.160-1202_160-1201insATATATATATATATTTTTTTTTTTTTTT	GALNT10	ENSG00000164574.16	transcript	ENST00000297107.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GALNT12_chr9_98802670_98855081	98854816	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0243 a0001c0002t0002g0243	1	376	0.0027	28	c.57 others(39): Show c.5724_*5725insTATATATATATATATATATATATATATA	GALNT12	ENSG00000119514.7	transcript	ENST00000375011.4	protein_coding		4736		chr9	TogoVar
GALNT13_chr2_153866922_154458979	153884766	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02135.hp2 HG02055.hp1 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0004 a0001c0001t0009	a0001c0001t0004g0210 a0001c0001t0009g0089 a0001c0001t0004g0210 a0001c0001t0009g0089	2	214	0.0094	28	c.-17 others(49): Show c.-177+12483_-177+12484insATATATATATATATATATATATAT ATAT	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(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02630.hp2 HG03710.hp2 others(2): Show HG02055.hp1 HG02630.hp2 HG03710.hp2 NA18747.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0034 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0034 a0001c0001t0035 a0001c0001t0046	a0001c0001t0001g0023 a0001c0001t0004g0210 a0001c0001t0034g0118 others(2): Show a0001c0001t0001g0023 a0001c0001t0004g0210 a0001c0001t0034g0118 a0001c0001t0035g0098 a0001c0001t0046g0186	5	214	0.0234	28	c.975 others(47): Show c.975+10787_975+10788insATATATATATATATATATATATATAT AT	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(21): Show GTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG03491.hp1 HG03942.hp1 HG01123.hp2 HG03491.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0036 a0001c0001t0002 a0001c0001t0011 a0001c0001t0036	a0001c0001t0002g0107 a0001c0001t0011g0001 a0001c0001t0036g0090 a0001c0001t0002g0107 a0001c0001t0011g0001 a0001c0001t0036g0090	3	214	0.0140	28	c.975 others(47): Show c.975+10769_975+10770insGTATATATATATATATATATATATAT AT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT14_chr2_30905467_31143440	30989559	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0082 a0003c0007t0001g0082	1	226	0.0044	28	c.299 others(45): Show c.299+3278_299+3279insATATATATATATATATATATATATATAT	GALNT14	ENSG00000158089.15	transcript	ENST00000349752.10	protein_coding	2/14			chr2	TogoVar
GALNT14_chr2_30905467_31143440	31027886	C C	CTGTGTGT others(21): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0054 a0002c0003t0001g0054	1	226	0.0044	28	c.130 others(47): Show c.130-34907_130-34880dupCACACACACACACACACACACACACA CA	GALNT14	ENSG00000158089.15	transcript	ENST00000349752.10	protein_coding	1/14			chr2	TogoVar
GALNT15_chr3_16169680_16235165	16233094	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG02071.hp2 HG04199.hp1 others(1): Show HG00544.hp1 HG02071.hp2 HG04199.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0131 others(1): Show a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0131 a0001c0001t0001g0154	4	388	0.0103	28	c.55 others(39): Show c.5594_*5595insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GALNT15	ENSG00000131386.20	transcript	ENST00000339732.10	protein_coding		2930		chr3	TogoVar
GALNT16_chr14_69255158_69359466	69342474	A A	AAGGGAGG others(21): Show AAGGGAGGAAGGCAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02572.hp1 HG02809.hp1 others(2): Show HG01993.hp1 HG02572.hp1 HG02809.hp1 HG02922.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0017 a0001c0001t0002 a0001c0001t0010 a0001c0001t0017	a0001c0001t0002g0012 a0001c0001t0002g0091 a0001c0001t0010g0023 others(2): Show a0001c0001t0002g0012 a0001c0001t0002g0091 a0001c0001t0010g0023 a0001c0001t0010g0026 a0001c0001t0017g0247	5	306	0.0163	28	c.127 others(45): Show c.1271+717_1271+718insAAGGCAGGGAGGGAGGGAGGGAGGGAGG	GALNT16	ENSG00000100626.17	transcript	ENST00000448469.8	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
GALNT16_chr14_69255158_69359466	69345703	A A	AGTGTGTG others(21): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02922.hp2 HG03209.hp2 HG01891.hp2 HG02922.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0002 a0001c0001t0017	a0001c0001t0002g0012 a0001c0001t0002g0085 a0001c0001t0017g0247 a0001c0001t0002g0012 a0001c0001t0002g0085 a0001c0001t0017g0247	3	306	0.0098	28	c.127 others(47): Show c.1272-1330_1272-1303dupGTGTGTGTGTGTGTGTGTGTGTGTGT GT	GALNT16	ENSG00000100626.17	transcript	ENST00000448469.8	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
GALNT17_chr7_71127144_71718599	71156579	G G	GTCCTTCC others(21): Show GTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03130.hp2 HG02280.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0024 a0001c0001t0004g0038 a0001c0001t0002g0024 a0001c0001t0004g0038	2	76	0.0263	28	c.238 others(47): Show c.238+23552_238+23579dupTCCTTCCTTCCTTCCTTCCTTCCTTC CT	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71162148	C C	CCTTCCTT others(21): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0048 a0001c0001t0004g0048	1	76	0.0132	28	c.238 others(47): Show c.238+29130_238+29131insTCCTTTCTTCCTTCCTTCCTTCCTTC CT	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71201239	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0061 a0001c0001t0009g0061	1	76	0.0132	28	c.238 others(47): Show c.238+68200_238+68201insATATATATATATATATATATATATAT AT	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(21): Show ATCTATCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	76	0.0132	28	c.239 others(47): Show c.239-16451_239-16450insATCTTTCTTTCTTTCTTTCTTTCTTT CT	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar

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