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
GALNTL6_chr4_171808404_173046559	172156547	A A	ATATATAT others(33): Show ATATATATATATATATATATAGTATATATATATATATATAG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0006 a0001c0001t0007g0006	1	40	0.0250	40	c.139 others(59): Show c.139-73089_139-73088insGTATATATATATATATATAGTATATA TATATATATATATA	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL6_chr4_171808404_173046559	172156549	A A	ATATATAT others(33): Show ATATATATATATATATATATAGTATATATATATATATATAG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	40	0.0250	40	c.139 others(59): Show c.139-73089_139-73088insTAGTATATATATATATATATAGTATA TATATATATATATA	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL6_chr4_171808404_173046559	172745446	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	40	0.0250	40	c.554 others(59): Show c.554-63914_554-63913insTATATATATATATATATATATATATA TATATATACACACA	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALR1_chr18_77244848_77282900	77281062	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp2 NA19088.hp1 NA18977.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0004 a0001c0001t0003 a0001c0002t0004	a0001c0001t0003g0262 a0001c0002t0004g0189 a0001c0001t0003g0262 a0001c0002t0004g0189	2	366	0.0055	40	c.12 others(53): Show c.12160_*12161insATATATATATATATATATATATATATATATAT ATATATAT	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding		3163		chr18	TogoVar
GAPVD1_chr9_125256826_125372207	125293854	A A	ATATATAT others(33): Show ATATATATATAAATATATTTTATATATATATAAATATATTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18952.hp1 NA18977.hp2 others(1): Show HG00673.hp2 NA18952.hp1 NA18977.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0293 others(1): Show a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0293 a0001c0001t0001g0315	4	340	0.0118	40	c.-14 others(59): Show c.-149-1594_-149-1593insAATATATTTTATATATATATAAATAT ATTTTATATATATA	GAPVD1	ENSG00000165219.23	transcript	ENST00000297933.11	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GAREM1_chr18_32258522_32475882	32471918	G G	GCTTGCTT others(33): Show GCTTGCTTGCTTGCTTGCTTTCTTTCTTTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG02280.hp2 HG02572.hp2 others(5): Show HG01169.hp2 HG02280.hp2 HG02572.hp2 HG02622.hp2 HG03669.hp2 NA18954.hp2 NA18973.hp1 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0018 a0003c0010	a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 a0001c0004t0001 a0001c0004t0006 a0001c0018t0002 a0003c0010t0002	a0001c0001t0001g0173 a0001c0001t0007g0180 a0001c0001t0007g0181 others(5): Show a0001c0001t0001g0173 a0001c0001t0007g0180 a0001c0001t0007g0181 a0001c0002t0001g0008 a0001c0004t0001g0168 a0001c0004t0006g0095 a0001c0018t0002g0003 a0003c0010t0002g0167	8	192	0.0417	40	c.-14 others(51): Show c.-1491_-1490insAAAGAAAGAAAGAAAGAAAGAAAGCAAGCAAGCA AGCAAG	GAREM1	ENSG00000141441.16	transcript	ENST00000269209.7	protein_coding		1037		chr18	TogoVar
GAREM1_chr18_32258522_32475882	32471918	G G	GCTTGCTT others(33): Show GCTTGCTTGCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0013	1	192	0.0052	40	c.-14 others(51): Show c.-1491_-1490insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGCA AGCAAG	GAREM1	ENSG00000141441.16	transcript	ENST00000269209.7	protein_coding		1037		chr18	TogoVar
GAREM1_chr18_32258522_32475882	32471918	G G	GCTTGCTT others(33): Show GCTTGCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG03486.hp1 HG02922.hp2 HG03486.hp1	a0001 a0001	a0001c0008 a0001c0009 a0001c0008 a0001c0009	a0001c0008t0014 a0001c0009t0003 a0001c0008t0014 a0001c0009t0003	a0001c0008t0014g0012 a0001c0009t0003g0011 a0001c0008t0014g0012 a0001c0009t0003g0011	2	192	0.0104	40	c.-14 others(51): Show c.-1491_-1490insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGCAAG	GAREM1	ENSG00000141441.16	transcript	ENST00000269209.7	protein_coding		1037		chr18	TogoVar
GARIN5A_chr19_50461788_50481848	50472090	A A	ATGTATAT others(33): Show ATGTATATGTATATATACGTGTGTATATGTATATATACGTG	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18973.hp2 NA18954.hp1 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0133 a0001c0001t0001g0134	2	414	0.0048	40	c.539 others(57): Show c.539+3195_539+3234dupCACGTATATATACATATACACACGTATA TATACATATACA	GARIN5A	ENSG00000142530.11	transcript	ENST00000600100.6	protein_coding	3/4			chr19	TogoVar
GARIN5B_chr19_55349908_55368260	55354273	A A	AGGCCCCG others(33): Show AGGCCCCGCCCCCACCAACCCGGCCCCGCCCCCACCAACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01257.hp2 HG01258.hp1 others(21): Show HG01243.hp1 HG01257.hp2 HG01258.hp1 HG02109.hp1 HG02145.hp1 HG02257.hp1 HG02451.hp2 HG02486.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02738.hp2 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03486.hp1 HG03688.hp1 NA18522.hp1 NA19240.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0020 a0028	a0001c0001 a0001c0030 a0002c0003 others(5): Show a0001c0001 a0001c0030 a0002c0003 a0003c0002 a0004c0005 a0005c0007 a0020c0034 a0028c0032	a0001c0001t0001 a0001c0030t0001 a0002c0003t0001 others(10): Show a0001c0001t0001 a0001c0030t0001 a0002c0003t0001 a0002c0003t0002 a0003c0002t0001 a0003c0002t0002 a0004c0005t0001 a0004c0005t0002 a0004c0005t0003 a0005c0007t0001 a0005c0007t0002 a0020c0034t0001 a0028c0032t0002	a0001c0001t0001g0031 a0001c0030t0001g0089 a0002c0003t0001g0005 others(12): Show a0001c0001t0001g0031 a0001c0030t0001g0089 a0002c0003t0001g0005 a0002c0003t0002g0018 a0002c0003t0002g0110 a0003c0002t0001g0009 a0003c0002t0001g0104 a0003c0002t0002g0032 a0004c0005t0001g0034 a0004c0005t0002g0035 a0004c0005t0003g0112 a0005c0007t0001g0128 a0005c0007t0002g0129 a0020c0034t0001g0107 a0028c0032t0002g0052	24	356	0.0674	40	c.86 others(49): Show c.862_*863insGGGTTGGTGGGGGCGGGGCCGGGTTGGTGGGGGCGG GGCC	GARIN5B	ENSG00000180043.11	transcript	ENST00000424985.3	protein_coding		634		chr19	TogoVar
GARNL3_chr9_127259774_127398660	127391533	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG03710.hp2 NA20300.hp1 HG01433.hp1 HG03710.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0073 a0001c0001t0001g0195 a0001c0001t0001g0061 a0001c0001t0001g0073 a0001c0001t0001g0195	3	300	0.0100	40	c.287 others(57): Show c.2870+767_2870+768insAAAAAAAAAAAAAAAAAAAAAATATATA TATATATATATA	GARNL3	ENSG00000136895.19	transcript	ENST00000373387.9	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GARNL3_chr9_127259774_127398660	127391533	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	300	0.0033	40	c.287 others(57): Show c.2870+767_2870+768insAAAAAAAAAAAAAAAATATATATATATA TATATATATATA	GARNL3	ENSG00000136895.19	transcript	ENST00000373387.9	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GARNL3_chr9_127259774_127398660	127391533	A A	AAAAAGAA others(33): Show AAAAAGAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0045 a0001c0002t0001g0045	1	300	0.0033	40	c.287 others(57): Show c.2870+767_2870+768insAAAGAATATATATATATATATATATATA TATATATATATA	GARNL3	ENSG00000136895.19	transcript	ENST00000373387.9	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GARRE1_chr19_34249554_34360566	34340438	T T	TTTTTCTT others(33): Show TTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01943.hp2 HG01361.hp2 HG01943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0162 a0001c0002t0003g0167 a0001c0002t0003g0162 a0001c0002t0003g0167	2	326	0.0061	40	c.148 others(57): Show c.1487+482_1487+483insTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCT	GARRE1	ENSG00000166398.14	transcript	ENST00000299505.8	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
GAS2_chr11_22661611_22818001	22777378	A A	AATTAAGA others(33): Show AATTAAGAAAAGACCATGAGTTCATTAGAGTAGCTTATATT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	272	0.0037	40	c.723 others(59): Show c.723+21426_723+21427insTTAAGAAAAGACCATGAGTTCATTAG AGTAGCTTATATTA	GAS2	ENSG00000148935.12	transcript	ENST00000454584.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
GAS2_chr11_22661611_22818001	22789423	G G	GATATATA others(33): Show GATATATATAAATATATATATATATAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02165.hp2 NA18951.hp1 others(3): Show HG00423.hp2 HG02165.hp2 NA18951.hp1 NA18953.hp2 NA18960.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0011 a0001c0002t0004 others(1): Show a0001c0001t0001 a0001c0001t0011 a0001c0002t0004 a0001c0002t0012	a0001c0001t0001g0062 a0001c0001t0001g0073 a0001c0001t0001g0188 others(3): Show a0001c0001t0001g0062 a0001c0001t0001g0073 a0001c0001t0001g0188 a0001c0001t0011g0040 a0001c0002t0004g0124 a0001c0002t0012g0216	6	272	0.0221	40	c.724 others(59): Show c.724-22374_724-22373insTATATATAAATATATATATATATAAA TATATATATATATA	GAS2	ENSG00000148935.12	transcript	ENST00000454584.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
GAS7_chr17_9905606_10203606	10005050	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0037 a0001c0001t0009g0037	1	218	0.0046	40	c.304 others(59): Show c.304+14726_304+14727insGTGTGTGTGTGTATATATATATATAT ATATATATATATAT	GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding	2/13			chr17	TogoVar
GAS7_chr17_9905606_10203606	10046876	G G	GGAAAAGA others(33): Show GGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0017 a0001c0001t0010g0017	1	218	0.0046	40	c.184 others(59): Show c.184-26980_184-26979insTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTC	GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding	1/13			chr17	TogoVar
GASK1A_chr3_42974311_43062715	42977093	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAAAAAAAAAAGAAGTTGCCTAGTTCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp2 NA19060.hp1 NA19010.hp2 NA19060.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0024 a0004c0004t0006g0276 a0004c0004t0006g0024 a0004c0004t0006g0276	2	342	0.0059	40	c.-25 others(51): Show c.-2550_-2549insAAAAAAAAAAAAAAAAAAAAAAAGAAGTTGCCTA GTTCAG	GASK1A	ENSG00000144649.10	transcript	ENST00000430121.3	protein_coding		2217		chr3	TogoVar
GATA5_chr20_62458497_62480995	62476885	T T	TTTTCTTT others(33): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp1 NA18978.hp1 NA19084.hp2 NA18612.hp1 NA18978.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0024 a0001c0001t0001 a0001c0002t0024	a0001c0001t0001g0167 a0001c0001t0001g0173 a0001c0002t0024g0109 a0001c0001t0001g0167 a0001c0001t0001g0173 a0001c0002t0024g0109	3	382	0.0079	40	c.-97 others(49): Show c.-978_-977insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		891		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477098	C C	CTTCCTTC others(33): Show CTTCCTTCCTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0007 a0007	a0007c0029 a0007c0029	a0007c0029t0001 a0007c0029t0001	a0007c0029t0001g0224 a0007c0029t0001g0224	1	382	0.0026	40	c.-11 others(51): Show c.-1191_-1190insAGAAAGAAAGAAAGAAAGAAGGAAAGAAAGAAGG AAGGAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1104		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477098	C C	CTTCCTTC others(33): Show CTTCCTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0021 a0002c0021	a0002c0021t0029 a0002c0021t0029	a0002c0021t0029g0255 a0002c0021t0029g0255	1	382	0.0026	40	c.-11 others(51): Show c.-1191_-1190insAGAAAGAAAGAAAGAAAGAAAGAAGGAAAGAAAG AAGGAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1104		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477241	C C	CCTTTCTT others(33): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	382	0.0026	40	c.-13 others(51): Show c.-1334_-1333insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1247		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477245	C C	CCTTTCTT others(33): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 NA18947.hp2 HG01192.hp2 NA18947.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0001 a0001c0008t0008 a0001c0002t0001 a0001c0008t0008	a0001c0002t0001g0116 a0001c0008t0008g0153 a0001c0002t0001g0116 a0001c0008t0008g0153	2	382	0.0052	40	c.-13 others(51): Show c.-1338_-1337insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1251		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477249	C C	CCTTTCTT others(33): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0197 a0001c0008t0002g0197	1	382	0.0026	40	c.-13 others(51): Show c.-1342_-1341insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1255		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477303	T T	TTTCTTTC others(33): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 NA19079.hp1 NA19081.hp1 HG02083.hp2 NA19079.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0001t0001 a0001c0001t0002 a0001c0004t0001	a0001c0001t0001g0061 a0001c0001t0002g0008 a0001c0004t0001g0178 a0001c0001t0001g0061 a0001c0001t0002g0008 a0001c0004t0001g0178	3	382	0.0079	40	c.-13 others(51): Show c.-1396_-1395insGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1309		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477303	T T	TTTCTTTC others(33): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 NA19010.hp2 HG00597.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0002 a0001c0001t0005g0005 a0001c0001t0004g0002 a0001c0001t0005g0005	2	382	0.0052	40	c.-13 others(51): Show c.-1396_-1395insGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1309		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(33): Show TCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTCCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0025 a0001c0002t0001g0025	1	382	0.0026	40	c.-13 others(51): Show c.-1398_-1397insGAGGGAGGGAGGAAGGAAGGAAAGAAAGAAAGAA AGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(33): Show TCTTTCTTTCTTTCTTTCTTTCTTTCCTCCCTCCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0007 a0007	a0007c0029 a0007c0029	a0007c0029t0001 a0007c0029t0001	a0007c0029t0001g0224 a0007c0029t0001g0224	1	382	0.0026	40	c.-13 others(51): Show c.-1398_-1397insGAGGGAGGGAGGGAGGAAAGAAAGAAAGAAAGAA AGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(33): Show TCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTCCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0134 a0001c0002t0001g0134	1	382	0.0026	40	c.-13 others(51): Show c.-1398_-1397insGAGGGAGGGAGGAAGGAAAGAAAGAAAGAAAGAA AGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(33): Show TCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0198 a0001c0002t0002g0198	1	382	0.0026	40	c.-13 others(51): Show c.-1398_-1397insGAGGGAGGAAGGAAGGAAAGAAAGAAAGAAAGAA AGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(33): Show TCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0211 a0001c0002t0002g0211	1	382	0.0026	40	c.-13 others(51): Show c.-1398_-1397insGAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAA AGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(33): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp1 NA19070.hp1 NA18981.hp1 NA19070.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0023 a0001c0001 a0010c0023	a0001c0001t0001 a0010c0023t0001 a0001c0001t0001 a0010c0023t0001	a0001c0001t0001g0021 a0010c0023t0001g0049 a0001c0001t0001g0021 a0010c0023t0001g0049	2	382	0.0052	40	c.-13 others(51): Show c.-1398_-1397insGAGGGAGGAAGGAAAGAAAGAAAGAAAGAAAGAA AGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(33): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG02451.hp1 HG02071.hp2 HG02451.hp1	a0001 a0001	a0001c0008 a0001c0012 a0001c0008 a0001c0012	a0001c0008t0004 a0001c0012t0001 a0001c0008t0004 a0001c0012t0001	a0001c0008t0004g0196 a0001c0012t0001g0056 a0001c0008t0004g0196 a0001c0012t0001g0056	2	382	0.0052	40	c.-13 others(51): Show c.-1398_-1397insGAGGGAGGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(33): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 NA19087.hp1 HG02970.hp2 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0003 a0001c0002t0002 a0001c0003t0003	a0001c0002t0002g0127 a0001c0003t0003g0087 a0001c0002t0002g0127 a0001c0003t0003g0087	2	382	0.0052	40	c.-13 others(51): Show c.-1398_-1397insGAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA6_chr18_22164589_22207528	22204279	C C	CTTCTTTC others(33): Show CTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0206 a0001c0006t0002g0206	1	286	0.0035	40	c.34 others(51): Show c.3456_*3457insTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	GATA6	ENSG00000141448.11	transcript	ENST00000269216.10	protein_coding		1752		chr18	TogoVar
GATA6_chr18_22164589_22207528	22204288	C C	CTCTTTCT others(33): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG02257.hp1 HG02300.hp2 others(10): Show HG00438.hp1 HG02257.hp1 HG02300.hp2 HG02622.hp1 HG02698.hp1 HG02698.hp2 HG02818.hp2 HG02970.hp1 HG03654.hp1 HG03942.hp1 NA18965.hp2 NA19043.hp1 NA19043.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0001 a0001c0001t0002 a0005c0004t0002 a0001c0001t0001 a0001c0001t0002 a0005c0004t0002	a0001c0001t0001g0023 a0001c0001t0002g0002 a0001c0001t0002g0003 others(10): Show a0001c0001t0001g0023 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0014 a0001c0001t0002g0051 a0001c0001t0002g0103 a0001c0001t0002g0109 a0001c0001t0002g0119 a0001c0001t0002g0164 a0001c0001t0002g0205 a0001c0001t0002g0217 a0001c0001t0002g0239 a0005c0004t0002g0015	13	286	0.0455	40	c.34 others(51): Show c.3465_*3466insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTT	GATA6	ENSG00000141448.11	transcript	ENST00000269216.10	protein_coding		1761		chr18	TogoVar
GATAD2B_chr1_153799725_153927972	153861795	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0341 a0001c0001t0033g0341	1	349	0.0029	40	c.-1- others(57): Show c.-1-33448_-1-33447insATATATATATATATATATATTTTTTTTT TTTTTTTTTTTT	GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	1/10			chr1	TogoVar
GATB_chr4_151665504_151766007	151697957	A A	ATATATAT others(33): Show ATATATATATGTGTATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	320	0.0031	40	c.119 others(59): Show c.1197+3371_1197+3372insCACATATATATATATATATATATATA TACACATATATATA	GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding	9/12			chr4	TogoVar
GATB_chr4_151665504_151766007	151697965	A A	ATGTGTGT others(33): Show ATGTGTGTATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp1 HG01433.hp1 others(22): Show HG00558.hp1 HG00597.hp1 HG01433.hp1 HG01978.hp2 HG02148.hp1 HG02717.hp1 HG03041.hp1 HG03225.hp2 HG03927.hp2 NA18941.hp2 NA18944.hp1 NA18945.hp2 NA18948.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp2 NA18969.hp2 NA18971.hp1 NA18978.hp1 NA18990.hp2 NA18999.hp2 NA19007.hp1 NA19067.hp2 NA19085.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 others(22): Show a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0292 a0001c0003t0001g0145 a0001c0003t0001g0161	25	320	0.0781	40	c.119 others(59): Show c.1197+3363_1197+3364insCATATATATATATATATATATATATA TATATATACACACA	GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding	9/12			chr4	TogoVar
GATB_chr4_151665504_151766007	151697965	A A	ATGTGTGT others(33): Show ATGTGTGTATATATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	320	0.0031	40	c.119 others(59): Show c.1197+3363_1197+3364insCACATATATATATATATATATATATA TATATATACACACA	GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding	9/12			chr4	TogoVar
GATB_chr4_151665504_151766007	151697965	A A	ATGTGTGT others(33): Show ATGTGTGTATATGTATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02886.hp1 HG02818.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0168 a0001c0001t0001g0095 a0001c0001t0001g0168	2	320	0.0063	40	c.119 others(59): Show c.1197+3363_1197+3364insCATATATATATATATATATATATATA TACATATACACACA	GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding	9/12			chr4	TogoVar
GATB_chr4_151665504_151766007	151735734	G G	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03225.hp2 HG03654.hp1 others(4): Show HG02258.hp2 HG03225.hp2 HG03654.hp1 HG03688.hp2 NA18953.hp1 NA18953.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0119 others(4): Show a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0119 a0001c0001t0001g0133 a0001c0001t0001g0173 a0001c0001t0001g0183 a0001c0001t0001g0188	7	320	0.0219	40	c.328 others(59): Show c.328-16197_328-16196insTATATATATATATATATATATATATA TATATATATATATA	GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding	2/12			chr4	TogoVar
GATD3_chr21_44128683_44150711	44147702	C C	CCTCCACA others(33): Show CCTCCACACTCAACCCCCAGCACCCCCACCACTCCCAGCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	54	0.0185	40	c.27 others(51): Show c.2753_*2754insCTCCACACTCAACCCCCAGCACCCCCACCACTCC CAGCTG	GATD3	ENSG00000160221.18	transcript	ENST00000291577.11	protein_coding		1992		chr21	TogoVar
GBE1_chr3_81484703_81766645	81750553	A A	ATATATAT others(33): Show ATATATATATATACACATATATATATACGTATATATATACG	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0196 a0001c0001t0003g0196	1	304	0.0033	40	c.143 others(59): Show c.143+10821_143+10822insCGTATATATATACGTATATATATATG TGTATATATATATA	GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	1/15			chr3	TogoVar
GBE1_chr3_81484703_81766645	81750647	A A	ATATATAT others(33): Show ATATATATACGTATATATATATATACGTATATATATATATG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0156 a0001c0001t0003g0156	1	304	0.0033	40	c.143 others(59): Show c.143+10727_143+10728insCATATATATATATACGTATATATATA TATACGTATATATA	GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	1/15			chr3	TogoVar
GCGR_chr17_81799150_81819008	81818737	C C	CAGATAGT others(33): Show CAGATAGTGACTTGTGTGTGCACGCCAACACTACACGGCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02135.hp2 HG02083.hp1 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0089 a0001c0001t0001g0050 a0001c0001t0001g0089	2	408	0.0049	40	c.50 others(51): Show c.5048_*5049insAGATAGTGACTTGTGTGTGCACGCCAACACTACA CGGCAG	GCGR	ENSG00000215644.10	transcript	ENST00000400723.8	protein_coding		4730		chr17	TogoVar
GCNT2_chr6_10516351_10634368	10569235	C C	CCACACAC others(33): Show CCACACACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01175.hp1 HG00140.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0145 a0001c0001t0001g0125 a0001c0001t0001g0145	2	324	0.0062	40	c.925 others(59): Show c.925+39438_925+39439insACACACACACACACACACACACACAC ACACACACACACAC	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10550809_10634368	10569235	C C	CCACACAC others(33): Show CCACACACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01175.hp2 NA19004.hp1 HG00140.hp1 HG01175.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0167 a0001c0001t0002g0221 a0001c0002t0001g0297 a0001c0001t0001g0167 a0001c0001t0002g0221 a0001c0002t0001g0297	3	344	0.0087	40	c.919 others(59): Show c.919+11932_919+11933insACACACACACACACACACACACACAC ACACACACACACAC	GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT3_chr15_59606783_59627723	59610228	T T	TTCCTTCC others(33): Show TTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCTTCCTTCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0044 a0001c0002t0044	a0001c0002t0044g0107 a0001c0002t0044g0107	1	428	0.0023	40	c.-20 others(51): Show c.-2004_-2003insTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCTTC CTTCAC	GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding		1554		chr15	TogoVar

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