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
GATA5_chr20_62458497_62480995	62477249	C C	CTTTCTTT others(24): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0008 a0001c0008t0008	a0001c0008t0008g0144 a0001c0008t0008g0144	1	382	0.0026	31	c.-13 others(42): Show c.-1342_-1341insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1255		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(24): Show TCTTTCTTTCTTTCTTTCTCCCTCCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0009 a0002c0005t0001g0009	1	382	0.0026	31	c.-13 others(42): Show c.-1398_-1397insGAGGGAGGGAGGGAGAAAGAAAGAAAGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATAD2B_chr1_153799725_153927972	153858266	A A	ACCCCCTC others(24): Show ACCCCCTCCTCCCGCCCCACTCGCCTCTGTCT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	349	0.0029	31	c.-1- others(48): Show c.-1-29919_-1-29918insAGACAGAGGCGAGTGGGGCGGGAGGAGG GGG	GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	1/10			chr1	TogoVar
GATD1_chr11_762222_782487	763218	T T	TGCCCCCG others(24): Show TGCCCCCGCCCTCACCCGCCCCGCCCTCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01516.hp2 HG01517.hp2 others(3): Show HG01261.hp1 HG01516.hp2 HG01517.hp2 HG02615.hp2 HG02647.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0031 a0001c0004t0006 a0001c0004t0020 others(2): Show a0001c0001t0031 a0001c0004t0006 a0001c0004t0020 a0001c0004t0043 a0001c0004t0050	a0001c0001t0031g0139 a0001c0004t0006g0052 a0001c0004t0020g0038 others(2): Show a0001c0001t0031g0139 a0001c0004t0006g0052 a0001c0004t0020g0038 a0001c0004t0043g0102 a0001c0004t0050g0051	6	430	0.0140	31	c.76 others(42): Show c.7678_*7679insGGGTGAGGGCGGGGCGGGTGAGGGCGGGGGC	GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding		4003		chr11	TogoVar
GATD1_chr11_762222_782487	763283	C C	CCCCCGCC others(24): Show CCCCCGCCCTCACCCATCCCCGCCCTCACCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0007 a0001c0002t0003g0007	1	430	0.0023	31	c.76 others(42): Show c.7613_*7614insACGGTGAGGGCGGGGATGGGTGAGGGCGGGG	GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding		3938		chr11	TogoVar
GCAT_chr22_37802934_37821897	37818486	G G	GTCGAGCC others(24): Show GTCGAGCCAGCAGCTGGATGAGCATGGTCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02572.hp2 HG02258.hp1 HG02572.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0002 a0006c0008t0002	a0006c0008t0002g0032 a0006c0008t0002g0032	2	390	0.0051	31	c.17 others(42): Show c.1768_*1769insTCGAGCCAGCAGCTGGATGAGCATGGTCTGC	GCAT	ENSG00000100116.17	transcript	ENST00000248924.11	protein_coding		1590		chr22	TogoVar
GCM1_chr6_53121961_53153841	53146217	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0284 a0001c0001t0008g0284	1	412	0.0024	31	c.-13 others(48): Show c.-136-450_-136-449insTATATATATATATATATATATATATATA TAT	GCM1	ENSG00000137270.11	transcript	ENST00000259803.8	protein_coding	1/5			chr6	TogoVar
GCN1_chr12_120122202_120199715	120123517	G G	GAATTATC others(24): Show GAATTATCATGCACTAATTGTCCCTGTGACCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0005 a0001c0002t0002g0005	1	312	0.0032	31	c.43 others(42): Show c.4331_*4332insTGGTCACAGGGACAATTAGTGCATGATAATT	GCN1	ENSG00000089154.11	transcript	ENST00000300648.7	protein_coding		3684		chr12	TogoVar
GCNT2_chr6_10516351_10634368	10534139	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	324	0.0031	31	c.925 others(48): Show c.925+4304_925+4305insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10516351_10634368	10569274	C C	CACACACA others(24): Show CACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0020 a0001c0001t0004g0020	1	324	0.0031	31	c.925 others(50): Show c.925+39438_925+39439insACACACACACACACACACACACACAC ACACA	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4			chr6	TogoVar
GCNT2_chr6_10516351_10634368	10582378	T T	TTAATATT others(24): Show TTAATATTTATTATATACTATAATAAATAGTA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02976.hp1 HG03704.hp2 others(1): Show HG02922.hp2 HG02976.hp1 HG03704.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0149 a0001c0001t0001g0299 a0001c0001t0002g0193 others(1): Show a0001c0001t0001g0149 a0001c0001t0001g0299 a0001c0001t0002g0193 a0001c0001t0003g0234	4	324	0.0124	31	c.926 others(50): Show c.926-38949_926-38919dupAAATAGTATAATATTTATTATATACT ATAAT	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10550809_10634368	10582378	T T	TTAATATT others(24): Show TTAATATTTATTATATACTATAATAAATAGTA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02976.hp1 HG03704.hp2 others(1): Show HG02922.hp2 HG02976.hp1 HG03704.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0204 a0001c0001t0001g0280 a0001c0001t0002g0129 others(1): Show a0001c0001t0001g0204 a0001c0001t0001g0280 a0001c0001t0002g0129 a0001c0002t0001g0284	4	344	0.0116	31	c.919 others(50): Show c.919+25060_919+25090dupAAATAGTATAATATTTATTATATACT ATAAT	GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT4_chr5_75020346_75057558	75049749	G G	GACACTTG others(24): Show GACACTTGTTGACACATTAAGTAGAAGGTGCC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0080 a0001c0001t0005g0080	1	382	0.0026	31	c.-14 others(50): Show c.-142-1743_-142-1713dupGGCACCTTCTACTTAATGTGTCAACA AGTGT	GCNT4	ENSG00000176928.7	transcript	ENST00000652361.2	protein_coding	2/3			chr5	TogoVar
GCSH_chr16_81076945_81101395	81080667	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02572.hp2 HG02258.hp2 HG02572.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0014 a0002c0004t0002g0086 a0002c0004t0002g0014 a0002c0004t0002g0086	2	354	0.0057	31	c.21 others(42): Show c.2198_*2199insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GCSH	ENSG00000140905.11	transcript	ENST00000315467.9	protein_coding		1277		chr16	TogoVar
GDF15_chr19_18381158_18394176	18387813	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0041 a0003c0003t0001g0041	1	424	0.0024	31	c.278 others(46): Show c.278-447_278-446insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	GDF15	ENSG00000130513.7	transcript	ENST00000252809.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr19	TogoVar
GDF7_chr2_20662144_20684243	20663249	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0237 a0001c0001t0237	a0001c0001t0237g0009 a0001c0001t0237g0009	1	442	0.0023	31	c.-39 others(42): Show c.-3991_-3990insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GDF7	ENSG00000143869.7	transcript	ENST00000272224.5	protein_coding		3894		chr2	TogoVar
GEMIN2_chr14_39109323_39141973	39123708	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	424	0.0024	31	c.486 others(48): Show c.486+1166_486+1167insATATATATATATATATATATATATATAT TTT	GEMIN2	ENSG00000092208.19	transcript	ENST00000308317.12	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
GEMIN6_chr2_38773210_38790002	38779664	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0125 a0001c0001t0019g0125	1	412	0.0024	31	c.128 others(46): Show c.128+547_128+548insATATATATATATATATATATATATTTTTTT T	GEMIN6	ENSG00000152147.11	transcript	ENST00000281950.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
GEMIN6_chr2_38773210_38790002	38779664	A A	ATATATAT others(24): Show ATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0062 a0001c0001t0009g0062	1	412	0.0024	31	c.128 others(46): Show c.128+547_128+548insATATATATATATATATATATTTTTTTTTTT T	GEMIN6	ENSG00000152147.11	transcript	ENST00000281950.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
GEMIN6_chr2_38773210_38790002	38779664	A A	ATATATAT others(24): Show ATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA19089.hp1 NA18943.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0041 a0001c0001t0009g0041	2	412	0.0049	31	c.128 others(46): Show c.128+547_128+548insATATATATATATATATATTTTTTTTTTTTT T	GEMIN6	ENSG00000152147.11	transcript	ENST00000281950.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
GET3_chr19_12732497_12753323	12745272	T T	TCTGGCCC others(24): Show TCTGGCCCTGTGCCCGGGTAGGAAGGCTCCCC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	286	0.0035	31	c.310 others(44): Show c.310-90_310-60dupGGGTAGGAAGGCTCCCCCTGGCCCTGTGCCC	GET3	ENSG00000198356.12	transcript	ENST00000357332.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
GFOD2_chr16_67669536_67724316	67712262	T T	TCTCCCTC others(24): Show TCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0101 a0001c0001t0004g0101	1	186	0.0054	31	c.-88 others(48): Show c.-88+6870_-88+6900dupGGGGGAGGGGGAGGGGGAGAGGGAGAGG GAG	GFOD2	ENSG00000141098.13	transcript	ENST00000268797.12	protein_coding	1/2			chr16	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0002 a0003c0014t0002	a0003c0014t0002g0307 a0003c0014t0002g0307	1	412	0.0024	31	c.41 others(42): Show c.4105_*4106insATATATATATATTTTTTTTTTTTTTTTTTTT	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3239		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0242 a0001c0003t0001g0242	1	412	0.0024	31	c.41 others(42): Show c.4105_*4106insATATATATATATATTTTTTTTTTTTTTTTTT	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3239		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00621.hp2 HG01123.hp1 HG00140.hp1 HG00621.hp2 HG01123.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0020 a0001c0003 a0002c0020	a0001c0003t0001 a0001c0003t0002 a0002c0020t0002 a0001c0003t0001 a0001c0003t0002 a0002c0020t0002	a0001c0003t0001g0117 a0001c0003t0002g0303 a0002c0020t0002g0315 a0001c0003t0001g0117 a0001c0003t0002g0303 a0002c0020t0002g0315	3	412	0.0073	31	c.41 others(42): Show c.4105_*4106insATATATATATATATATTTTTTTTTTTTTTTT	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3239		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0002 a0003c0014t0002	a0003c0014t0002g0319 a0003c0014t0002g0319	1	412	0.0024	31	c.41 others(42): Show c.4105_*4106insATATATATATATATATATTTTTTTTTTTTTT	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3239		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 NA19011.hp1 HG06807.hp1 NA19011.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0006 a0001c0003t0002 a0001c0003t0006	a0001c0003t0002g0289 a0001c0003t0006g0387 a0001c0003t0002g0289 a0001c0003t0006g0387	2	412	0.0049	31	c.41 others(42): Show c.4105_*4106insATATATATATATATATATATTTTTTTTTTTT	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3239		chr5	TogoVar
GFRA1_chr10_116051925_116278206	116145148	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0127 a0001c0001t0127	a0001c0001t0127g0132 a0001c0001t0127g0132	1	214	0.0047	31	c.434 others(50): Show c.434-19592_434-19591insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	5/10			chr10	TogoVar
GFRA2_chr8_21685398_21793875	21694092	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0003 a0002c0016t0003	a0002c0016t0003g0272 a0002c0016t0003g0272	1	322	0.0031	31	c.127 others(48): Show c.1272+371_1272+372insTATATATATATATATATATATATATATA TAT	GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	8/8			chr8	TogoVar
GGT1_chr22_24598193_24633996	24605400	T T	TATATAAC others(24): Show TATATAACAATATATAATGTGTATTATATATA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0162 a0001c0001t0006g0162	1	426	0.0024	31	c.-42 others(50): Show c.-429+1879_-429+1880insCAATATATAATGTGTATTATATATAA TATAA	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
GGT1_chr22_24598193_24633996	24605462	A A	AATATAAT others(24): Show AATATAATATTATATAATGTGTATTATATATT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0189 a0002c0002t0001g0189	1	426	0.0024	31	c.-42 others(50): Show c.-429+2028_-429+2058dupTATATAATATTATATAATGTGTATTA TATAT	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
GGT1_chr22_24598193_24633996	24605698	T T	TTAATATT others(24): Show TTAATATTATATAATGTGTATTATATATTATA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03942.hp2 HG03710.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0226 a0001c0001t0001g0153 a0001c0001t0001g0226	2	426	0.0047	31	c.-42 others(50): Show c.-428-2187_-428-2157dupTATATAATGTGTATTATATATTATAT AATAT	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
GGT1_chr22_24598193_24633996	24626236	C C	CCCTCCCA others(24): Show CCCTCCCAAAGTGCTGGGATTACAGGCCTCGG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	426	0.0024	31	c.102 others(50): Show c.1021-1169_1021-1139dupCTCGGCCTCCCAAAGTGCTGGGATTA CAGGC	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
GID8_chr20_62933147_62953475	62945674	A A	ATGACCTT others(24): Show ATGACCTTTTGTCTTTGGGGCGTTCTTCCCCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0039 a0001c0001t0039g0039	1	444	0.0023	31	c.76 others(40): Show c.765_*795dupACCTTTTGTCTTTGGGGCGTTCTTCCCCCTG	GID8	ENSG00000101193.8	transcript	ENST00000266069.5	protein_coding	5/5	796	INFO_REALIGN_3_PRIME	chr20	TogoVar
GINS2_chr16_85671198_85693954	85685670	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0132 a0001c0002t0009g0132	1	470	0.0021	31	c.205 others(48): Show c.205+1789_205+1790insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	GINS2	ENSG00000131153.9	transcript	ENST00000253462.8	protein_coding	2/4			chr16	TogoVar
GJC2_chr1_228144930_228164826	228157117	G G	GGTGGAGG others(24): Show GGTGGAGGGACCCCGACGCCCCTGTCCAGGGT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02451.hp2 HG02572.hp1 others(8): Show HG01167.hp2 HG02451.hp2 HG02572.hp1 HG02630.hp1 HG02723.hp1 HG02886.hp2 HG02895.hp1 HG02965.hp2 HG02970.hp1 HG03471.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0001t0002 a0001c0013t0002 a0001c0001t0001 a0001c0001t0002 a0001c0013t0002	a0001c0001t0001g0068 a0001c0001t0002g0016 a0001c0001t0002g0022 others(2): Show a0001c0001t0001g0068 a0001c0001t0002g0016 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0013t0002g0016	11	414	0.0266	31	c.-19 others(46): Show c.-19-582_-19-552dupCCCCGACGCCCCTGTCCAGGGTGTGGAGGG A	GJC2	ENSG00000198835.4	transcript	ENST00000366714.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr1	TogoVar
GK_chrX_30648423_30736462	30704128	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02559.hp1 HG02109.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0005 a0001c0001t0007	a0001c0001t0005g0105 a0001c0001t0007g0102 a0001c0001t0005g0105 a0001c0001t0007g0102	2	286	0.0070	31	c.851 others(48): Show c.851+3223_851+3224insATATATATATATATATATATATATATAT ATA	GK	ENSG00000198814.14	transcript	ENST00000427190.6	protein_coding	11/20			chrX	TogoVar
GLB1L3_chr11_134271379_134324564	134308322	A A	ACCACCAC others(24): Show ACCACCACCAAATACCACCACCACCACCATGT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG03927.hp1 NA18944.hp1 others(4): Show HG00323.hp2 HG03927.hp1 NA18944.hp1 NA18949.hp2 NA18995.hp2 NA19054.hp1 NA19080.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0006c0021 a0001c0001 a0001c0003 a0006c0021	a0001c0001t0001 a0001c0003t0001 a0006c0021t0001 a0001c0001t0001 a0001c0003t0001 a0006c0021t0001	a0001c0001t0001g0206 a0001c0003t0001g0004 a0001c0003t0001g0059 others(2): Show a0001c0001t0001g0206 a0001c0003t0001g0004 a0001c0003t0001g0059 a0001c0003t0001g0071 a0006c0021t0001g0235	7	422	0.0166	31	c.961 others(48): Show c.961+1114_961+1115insCCACCACCAAATACCACCACCACCACCA TGT	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19			chr11	TogoVar
GLB1_chr3_32991617_33102146	33043771	G G	GAAAGATA others(24): Show GAAAGATAGATACCTCAGAAAAATACCAAGCA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02451.hp1 HG02486.hp1 others(2): Show HG01934.hp1 HG02451.hp1 HG02486.hp1 HG02630.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0021 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0083	5	394	0.0127	31	c.106 others(50): Show c.1068+2348_1068+2349insTGCTTGGTATTTTTCTGAGGTATCTA TCTTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	10/15			chr3	TogoVar
GLCCI1_chr7_7963796_8094080	7966733	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG02622.hp1 HG03516.hp2 HG00423.hp1 HG02622.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0338 a0001c0001t0001g0357 a0001c0001t0009g0231 a0001c0001t0001g0338 a0001c0001t0001g0357 a0001c0001t0009g0231	3	416	0.0072	31	c.-26 others(42): Show c.-2618_-2617insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GLCCI1	ENSG00000106415.13	transcript	ENST00000223145.10	protein_coding		2062		chr7	TogoVar
GLCCI1_chr7_7963796_8094080	7976479	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0085 a0001c0001t0085	a0001c0001t0085g0193 a0001c0001t0085g0193	1	416	0.0024	31	c.457 others(48): Show c.457+6691_457+6692insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	GLCCI1	ENSG00000106415.13	transcript	ENST00000223145.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
GLDN_chr15_51336655_51413000	51353734	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0048 a0001c0001t0003g0048	1	412	0.0024	31	c.363 others(50): Show c.363+11687_363+11688insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAC	GLDN	ENSG00000186417.15	transcript	ENST00000335449.11	protein_coding	1/9			chr15	TogoVar
GLG1_chr16_74442440_74612114	74498447	A A	AAGTATAT others(24): Show AAGTATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00673.hp1 HG00735.hp2 others(23): Show HG00323.hp2 HG00673.hp1 HG00735.hp2 HG02135.hp1 HG02155.hp2 HG02622.hp1 HG02965.hp1 HG02965.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03492.hp1 HG03579.hp2 HG03669.hp1 NA18942.hp1 NA18943.hp1 NA18952.hp2 NA18954.hp2 NA18964.hp1 NA18967.hp1 NA18970.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0025 a0001c0001t0031 a0001c0001t0036 a0001c0004t0007	a0001c0001t0001g0170 a0001c0001t0001g0180 a0001c0001t0001g0229 others(23): Show a0001c0001t0001g0170 a0001c0001t0001g0180 a0001c0001t0001g0229 a0001c0001t0001g0249 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0263 a0001c0001t0002g0105 a0001c0001t0002g0112 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0164 a0001c0001t0002g0174 a0001c0001t0002g0215 a0001c0001t0002g0235 a0001c0001t0002g0291 a0001c0001t0002g0294 a0001c0001t0005g0094 a0001c0001t0005g0114 a0001c0001t0005g0120 a0001c0001t0005g0123 a0001c0001t0005g0295 a0001c0001t0025g0159 a0001c0001t0031g0132 a0001c0001t0036g0320 a0001c0004t0007g0171	26	342	0.0760	31	c.775 others(48): Show c.775-1804_775-1803insATATATATATATATATATATATATATAT ACT	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	4/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74498447	A A	AAGTGTAT others(24): Show AAGTGTATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0068 a0001c0003t0003g0068	1	342	0.0029	31	c.775 others(48): Show c.775-1804_775-1803insATATATATATATATATATATATATATAC ACT	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	4/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74542708	G G	GGAAGGGA others(24): Show GGAAGGGAGGAAGGAAGGAAGGGAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01070.hp2 HG01099.hp2 others(17): Show HG00609.hp1 HG01070.hp2 HG01099.hp2 HG01109.hp1 HG01517.hp2 HG02080.hp1 HG02145.hp2 HG02647.hp2 HG02976.hp1 HG03209.hp2 HG03540.hp2 NA18939.hp2 NA18960.hp2 NA18964.hp1 NA18968.hp2 NA18971.hp2 NA18973.hp2 NA18989.hp2 NA18993.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0026 a0001c0004t0001 a0001c0004t0018 a0001c0004t0027	a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0224 others(17): Show a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0249 a0001c0001t0001g0268 a0001c0001t0001g0318 a0001c0001t0001g0324 a0001c0001t0002g0097 a0001c0001t0002g0141 a0001c0001t0007g0262 a0001c0001t0026g0242 a0001c0004t0001g0182 a0001c0004t0001g0199 a0001c0004t0001g0210 a0001c0004t0001g0306 a0001c0004t0018g0336 a0001c0004t0027g0185	20	342	0.0585	31	c.439 others(50): Show c.439-10556_439-10555insTTCCTTCCTCCCTTCCTTCCTTCCTC CCTTC	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25			chr16	TogoVar
GLO1_chr6_38670925_38708145	38705348	C C	CTTTCTTT others(24): Show CTTTCTTTCTTTCTTTCTTTCTTCTTTATTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0110 a0001c0001t0009g0110	1	410	0.0024	31	c.-22 others(42): Show c.-2295_-2294insCAAATAAAGAAGAAAGAAAGAAAGAAAGAAA	GLO1	ENSG00000124767.7	transcript	ENST00000373365.5	protein_coding		2204		chr6	TogoVar
GLOD5_chrX_48756747_48778648	48766985	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00621.hp1 HG01261.hp1 others(5): Show HG00099.hp2 HG00621.hp1 HG01261.hp1 HG02273.hp1 HG02738.hp1 NA18940.hp1 NA18954.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0007 a0001c0001t0001g0056 a0001c0001t0001g0065 others(2): Show a0001c0001t0001g0007 a0001c0001t0001g0056 a0001c0001t0001g0065 a0001c0001t0001g0113 a0001c0001t0002g0168	8	269	0.0297	31	c.201 others(48): Show c.201+1033_201+1034insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	GLOD5	ENSG00000171433.12	transcript	ENST00000303227.11	protein_coding	2/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
GLRA1_chr5_151817513_151929851	151849456	C C	CTTTCCTT others(24): Show CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01975.hp2 HG03195.hp1 HG01256.hp2 HG01975.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0041 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0001g0041 a0001c0001t0002g0225 a0001c0001t0002g0226	3	284	0.0106	31	c.912 others(48): Show c.912+1933_912+1934insAGGAAAGGAAAGGAAAGGAAAGGAAAGG AAA	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GLRA2_chrX_14524536_14736812	14681906	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0221 a0001c0001t0003g0226 a0001c0001t0003g0221 a0001c0001t0003g0226	2	232	0.0086	31	c.931 others(48): Show c.931-8804_931-8803insTATATATATATATATATATATATATATA TAT	GLRA2	ENSG00000101958.14	transcript	ENST00000218075.9	protein_coding	7/8			chrX	TogoVar
GLRA2_chrX_14524536_14736812	14681908	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0054 a0001c0001t0003g0054	1	232	0.0043	31	c.931 others(48): Show c.931-8802_931-8801insTATATATATATATATATATATATATATA TAT	GLRA2	ENSG00000101958.14	transcript	ENST00000218075.9	protein_coding	7/8			chrX	TogoVar

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