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
GALNS_chr16_88808734_88861947	88831603	A A	AGGAGAGC others(30): Show AGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGGG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0013 a0013	a0013c0027 a0013c0027	a0013c0027t0002 a0013c0027t0002	a0013c0027t0002g0116 a0013c0027t0002g0116	1	404	0.0025	37	c.100 others(54): Show c.1002+394_1002+395insCCCCCCACGCACCCCGTGCTCGGCCTCA CCGCTCTCC	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
GALNT13_chr2_153866922_154458979	154014635	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0005 a0001c0001t0067g0005	1	214	0.0047	37	c.142 others(56): Show c.142+70011_142+70012insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154155944	A A	ATATATTT others(30): Show ATATATTTATGTATTGCATAATACATATATATTCGACG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0115 a0001c0001t0037g0115	1	214	0.0047	37	c.311 others(56): Show c.311+15458_311+15494dupAATACATATATATTCGACGTATATTT ATGTATTGCAT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT17_chr7_71127144_71718599	71265118	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03710.hp2 HG02280.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0008 a0001c0001t0004 a0001c0002t0008	a0001c0001t0004g0038 a0001c0002t0008g0025 a0001c0001t0004g0038 a0001c0002t0008g0025	2	76	0.0263	37	c.239 others(56): Show c.239-70431_239-70430insATATATATATATATATATATATATAT ATATTTTTTTT	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALR1_chr18_77244848_77282900	77281091	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0062 a0001c0002t0062	a0001c0002t0062g0024 a0001c0002t0062g0024	1	366	0.0027	37	c.12 others(50): Show c.12189_*12190insTATATATATATATATATATATATATATATATA TATAT	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding		3192		chr18	TogoVar
GAP43_chr3_115618510_115726483	115698247	A A	ATTATATA others(30): Show ATTATATATATATAATATATATAAAATATATATTATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA20300.hp1 HG01109.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0349 a0001c0001t0013g0219 a0001c0001t0001g0349 a0001c0001t0013g0219	2	352	0.0057	37	c.628 others(56): Show c.628+21637_628+21638insTTATATATATATAATATATATAAAAT ATATATTATAT	GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	2/2			chr3	TogoVar
GAP43_chr3_115618510_115726483	115698287	A A	AATATATA others(30): Show AATATATATATATTATATATAAAATATATATAATATAT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0295 a0001c0001t0002g0295	1	352	0.0028	37	c.628 others(56): Show c.628+21687_628+21688insATTATATATAAAATATATATAATATA TATATATATAT	GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
GAP43_chr3_115618510_115726483	115698287	A A	AATATATA others(30): Show AATATATATATATTATATATATAAAATATATATAATAT	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0199 a0001c0001t0002g0199	1	352	0.0028	37	c.628 others(56): Show c.628+21687_628+21688insATTATATATATAAAATATATATAATA TATATATATAT	GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
GAPVD1_chr9_125256826_125372207	125293630	A A	ATATATAT others(30): Show ATATATATATAATATAAAAATATATATATTATATATAT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18979.hp1 NA18939.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0309 a0001c0001t0002g0314 a0001c0001t0002g0309 a0001c0001t0002g0314	2	340	0.0059	37	c.-14 others(56): Show c.-149-1827_-149-1791dupTATATATATAATATAAAAATATATAT ATTATATATAT	GAPVD1	ENSG00000165219.23	transcript	ENST00000297933.11	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GAPVD1_chr9_125256826_125372207	125293660	A A	ATATATAT others(30): Show ATATATATTATATATATATAATATAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0311 a0001c0001t0002g0311	1	340	0.0029	37	c.-14 others(56): Show c.-149-1791_-149-1790insTATATATATATAATATAAAAATATAT ATATTATATAT	GAPVD1	ENSG00000165219.23	transcript	ENST00000297933.11	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GARIN1A_chr7_128667292_128692877	128689807	G G	GCCAGCCG others(30): Show GCCAGCCGCCCCGTCCGGGAGGTGGGGGGCACCTCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02055.hp2 HG01891.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0127 a0001c0001t0024g0128 a0001c0001t0024g0127 a0001c0001t0024g0128	2	428	0.0047	37	c.66 others(48): Show c.6648_*6649insCCAGCCGCCCCGTCCGGGAGGTGGGGGGCACCTC TGC	GARIN1A	ENSG00000205085.13	transcript	ENST00000682356.1	protein_coding		1931		chr7	TogoVar
GARIN5B_chr19_55349908_55368260	55360531	T T	TCCTCCTC others(30): Show TCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCCACC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0028 a0028	a0028c0032 a0028c0032	a0028c0032t0002 a0028c0032t0002	a0028c0032t0002g0052 a0028c0032t0002g0052	1	356	0.0028	37	c.888 others(52): Show c.888+125_888+161dupGGTGGGGGGCCTGGACTCCTGGGTCTGAGG GAGGAGG	GARIN5B	ENSG00000180043.11	transcript	ENST00000424985.3	protein_coding	8/10			chr19	TogoVar
GATA5_chr20_62458497_62480995	62471432	A A	ATTTTTTT others(30): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02056.hp2 HG02293.hp1 others(1): Show HG01934.hp2 HG02056.hp2 HG02293.hp1 NA18950.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0008 a0001c0002 a0001c0004 a0001c0008	a0001c0002t0001 a0001c0002t0002 a0001c0004t0037 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0004t0037 a0001c0008t0003	a0001c0002t0001g0141 a0001c0002t0002g0108 a0001c0004t0037g0091 others(1): Show a0001c0002t0001g0141 a0001c0002t0002g0108 a0001c0004t0037g0091 a0001c0008t0003g0143	4	382	0.0105	37	c.699 others(54): Show c.699+1970_699+1971insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding	3/6			chr20	TogoVar
GATA5_chr20_62458497_62480995	62476945	C C	CCCTCTCT others(30): Show CCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0016 a0001c0002t0003g0016	1	382	0.0026	37	c.-10 others(48): Show c.-1038_-1037insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		951		chr20	TogoVar
GATA6_chr18_22164589_22207528	22199726	A A	AACCCCGT others(30): Show AACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	286	0.0035	37	c.162 others(54): Show c.1621-929_1621-893dupACCCCGTCTCTACTAAAAATACAAAAAT TAGCCAGGT	GATA6	ENSG00000141448.11	transcript	ENST00000269216.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
GCNT2_chr6_10516351_10634368	10582288	A A	AATATATA others(30): Show AATATATACTATATATTAAATATATAAATATATTATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01099.hp1 HG01099.hp2 others(7): Show HG00140.hp1 HG01099.hp1 HG01099.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG02647.hp2 HG03579.hp2 NA19070.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0015	a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0125 others(7): Show a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0125 a0001c0001t0001g0192 a0001c0001t0001g0287 a0001c0001t0001g0321 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0006g0286 a0001c0001t0015g0076	10	324	0.0309	37	c.926 others(56): Show c.926-39059_926-39058insATACTATATATTAAATATATAAATAT ATTATATATAT	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10550809_10634368	10582288	A A	AATATATA others(30): Show AATATATACTATATATTAAATATATAAATATATTATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01099.hp1 HG01099.hp2 others(8): Show HG00140.hp1 HG01099.hp1 HG01099.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01358.hp1 HG03579.hp2 NA18965.hp2 NA19070.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 a0001c0002t0001	a0001c0001t0001g0056 a0001c0001t0001g0067 a0001c0001t0001g0189 others(8): Show a0001c0001t0001g0056 a0001c0001t0001g0067 a0001c0001t0001g0189 a0001c0001t0001g0306 a0001c0001t0003g0238 a0001c0001t0014g0331 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0285 a0001c0002t0001g0295 a0001c0002t0001g0297	11	344	0.0320	37	c.919 others(56): Show c.919+24950_919+24951insATACTATATATTAAATATATAAATAT ATTATATATAT	GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCSH_chr16_81076945_81101395	81086809	G G	GTTAGGGT others(30): Show GTTAGGGTTAGGGTTAGGTTATATGAAAGGAATCTTTA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00558.hp1 others(62): Show HG00323.hp1 HG00423.hp1 HG00558.hp1 HG00621.hp2 HG00735.hp2 HG01070.hp2 HG01081.hp1 HG01346.hp1 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG02015.hp2 HG02071.hp1 HG02074.hp2 HG02109.hp1 HG02165.hp1 HG02258.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02809.hp2 HG03471.hp2 HG03669.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04228.hp1 HG04228.hp2 NA18939.hp2 NA18941.hp2 NA18947.hp1 NA18948.hp1 NA18951.hp1 NA18954.hp1 NA18959.hp1 NA18965.hp1 NA18967.hp2 NA18968.hp2 NA18978.hp1 NA18984.hp1 NA18987.hp2 NA18988.hp1 NA18991.hp1 NA18995.hp1 NA18997.hp2 NA19004.hp1 NA19054.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19068.hp1 NA19074.hp2 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19085.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0002c0002t0001 a0002c0002t0002 a0002c0002t0010 a0002c0002t0014 a0002c0004t0002	a0001c0001t0001g0096 a0001c0001t0002g0094 a0001c0001t0002g0119 others(23): Show a0001c0001t0001g0096 a0001c0001t0002g0094 a0001c0001t0002g0119 a0001c0001t0002g0135 a0001c0001t0002g0144 a0001c0001t0012g0090 a0002c0002t0001g0069 a0002c0002t0001g0075 a0002c0002t0002g0002 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0028 a0002c0002t0002g0074 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0010g0079 a0002c0002t0014g0073 a0002c0004t0002g0014 a0002c0004t0002g0029 a0002c0004t0002g0031 a0002c0004t0002g0032 a0002c0004t0002g0085 a0002c0004t0002g0086	65	354	0.1836	37	c.292 others(52): Show c.292+791_292+792insTAAAGATTCCTTTCATATAACCTAACCCTA ACCCTAA	GCSH	ENSG00000140905.11	transcript	ENST00000315467.9	protein_coding	3/4			chr16	TogoVar
GET4_chr7_871554_901436	882577	A A	AGGGATGG others(30): Show AGGGATGGCGCGGGTTGTGGGCGGCCGACCTTGCCCCG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02615.hp1 HG02723.hp2 others(2): Show HG02071.hp1 HG02615.hp1 HG02723.hp2 HG03098.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0017 a0001c0001 a0001c0010 a0001c0017	a0001c0001t0009 a0001c0010t0025 a0001c0010t0026 others(2): Show a0001c0001t0009 a0001c0010t0025 a0001c0010t0026 a0001c0010t0028 a0001c0017t0002	a0001c0001t0009g0178 a0001c0010t0025g0053 a0001c0010t0026g0052 others(2): Show a0001c0001t0009g0178 a0001c0010t0025g0053 a0001c0010t0026g0052 a0001c0010t0028g0051 a0001c0017t0002g0049	5	384	0.0130	37	c.156 others(54): Show c.156-3385_156-3349dupGCGGCCGACCTTGCCCCGGGGATGGCGC GGGTTGTGG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GFOD1_chr6_13352830_13492600	13409132	A A	AGAAAGAA others(30): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0058 a0001c0001t0065g0058	1	230	0.0044	37	c.254 others(56): Show c.254-43471_254-43470insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTC	GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1			chr6	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0253 a0001c0003t0002g0253	1	412	0.0024	37	c.41 others(48): Show c.4105_*4106insATATATATATATATATATATTTTTTTTTTTTTTT TTT	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3239		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(30): Show AAAAAAAAAAATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0016 a0001c0003t0002g0016	1	412	0.0024	37	c.41 others(48): Show c.4105_*4106insATATATATATATATATATATATATATATTTTTTT TTT	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3239		chr5	TogoVar
GFY_chr19_49420388_49433987	49427666	A A	ACTCCTGG others(30): Show ACTCCTGGGTCCGAGGGAGGAGGGGCTGGGGGCCTGGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02451.hp1 others(4): Show HG01884.hp1 HG02109.hp2 HG02451.hp1 HG02723.hp2 HG03130.hp1 HG03209.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0008 a0001c0001t0001g0019	7	450	0.0156	37	c.118 others(52): Show c.1183+89_1183+90insGCTCCTGGGTCCGAGGGAGGAGGGGCTGGG GGCCTGG	GFY	ENSG00000261949.7	transcript	ENST00000610896.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
GFY_chr19_49420388_49433987	49427714	C C	CGAGGGAG others(30): Show CGAGGGAGGAGGGGCTGGGGGCCTGGGCTCCTGGGTCT	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	450	0.0022	37	c.118 others(54): Show c.1183+126_1183+127insGCTCCTGGGTCTGAGGGAGGAGGGGCTG GGGGCCTGG	GFY	ENSG00000261949.7	transcript	ENST00000610896.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
GIMAP1_chr7_150711613_150729284	150713537	G G	GACAAAGT others(30): Show GACAAAGTCTAATATCCAGAATCTTATGGACAACAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	434	0.0023	37	c.-31 others(48): Show c.-3160_-3159insACAAAGTCTAATATCCAGAATCTTATGGACAACA ATA	GIMAP1	ENSG00000213203.3	transcript	ENST00000307194.6	protein_coding		3075		chr7	TogoVar
GINS2_chr16_85671198_85693954	85685670	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18999.hp2 NA19078.hp2 NA18970.hp2 NA18999.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0018	3	470	0.0064	37	c.205 others(54): Show c.205+1789_205+1790insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	GINS2	ENSG00000131153.9	transcript	ENST00000253462.8	protein_coding	2/4			chr16	TogoVar
GJB6_chr13_20216962_20237319	20218592	C C	CTTTCTTT others(30): Show CTTTCTTTCTTTCCTTCTTTCCTTCCTTCTTTCTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00733.hp1 HG01106.hp1 others(27): Show HG00280.hp2 HG00733.hp1 HG01106.hp1 HG01109.hp2 HG01168.hp2 HG01255.hp1 HG01346.hp2 HG01496.hp1 HG01934.hp1 HG01943.hp1 HG01975.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02615.hp2 HG03225.hp2 HG03486.hp2 HG03491.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG04228.hp1 NA18950.hp2 NA18978.hp1 NA18978.hp2 NA18986.hp1 NA18987.hp2 NA19000.hp1 NA19000.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(24): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0052 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0203 a0001c0001t0001g0212 a0001c0001t0001g0234 a0001c0001t0001g0252 a0001c0001t0001g0258 a0001c0001t0001g0270 a0001c0001t0001g0285 a0001c0001t0002g0059 a0001c0001t0002g0173 a0001c0001t0002g0277 a0001c0001t0003g0339 a0001c0001t0003g0350 a0001c0001t0011g0311	30	460	0.0652	37	c.41 others(48): Show c.4102_*4103insAGAAAGAAAGAAGGAAGGAAAGAAGGAAAGAAAG AAA	GJB6	ENSG00000121742.19	transcript	ENST00000647029.1	protein_coding		3369		chr13	TogoVar
GJB6_chr13_20216962_20237319	20218592	C C	CTTTCTTT others(30): Show CTTTCTTTCTTTCTTTCCTTCTTTCCTTCTTTCTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG03540.hp2 NA19240.hp1 others(1): Show HG01123.hp2 HG03540.hp2 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0015 a0001c0001t0002 a0001c0001t0006 a0001c0001t0015	a0001c0001t0002g0017 a0001c0001t0002g0092 a0001c0001t0006g0336 others(1): Show a0001c0001t0002g0017 a0001c0001t0002g0092 a0001c0001t0006g0336 a0001c0001t0015g0064	4	460	0.0087	37	c.41 others(48): Show c.4102_*4103insAGAAAGAAAGAAGGAAAGAAGGAAAGAAAGAAAG AAA	GJB6	ENSG00000121742.19	transcript	ENST00000647029.1	protein_coding		3369		chr13	TogoVar
GLG1_chr16_74442440_74612114	74498447	A A	AAAAAAGT others(30): Show AAAAAAGTATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0023 a0001c0003t0023	a0001c0003t0023g0326 a0001c0003t0023g0326	1	342	0.0029	37	c.775 others(54): Show c.775-1804_775-1803insATATATATATATATATATATATATATAT ATACTTTTT	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	4/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74498447	A A	AAGTATAT others(30): Show AAGTATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0234 a0001c0001t0002g0234	1	342	0.0029	37	c.775 others(54): Show c.775-1804_775-1803insATATATATATATATATATATATATATAT ATATATACT	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	4/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74542756	A A	AGGAAGGA others(30): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00642.hp2 HG02273.hp2 others(3): Show HG00621.hp2 HG00642.hp2 HG02273.hp2 HG02738.hp1 NA18939.hp1 NA18948.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0050 others(1): Show a0001c0002t0003 a0001c0002t0004 a0001c0002t0050 a0001c0002t0051	a0001c0002t0003g0051 a0001c0002t0004g0013 a0001c0002t0004g0015 others(3): Show a0001c0002t0003g0051 a0001c0002t0004g0013 a0001c0002t0004g0015 a0001c0002t0004g0030 a0001c0002t0050g0055 a0001c0002t0051g0048	6	342	0.0175	37	c.439 others(56): Show c.439-10640_439-10604dupCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCC	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74542760	A A	AGGAAGGA others(30): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01943.hp1 HG01975.hp1 others(4): Show HG01928.hp2 HG01943.hp1 HG01975.hp1 HG02293.hp1 NA18942.hp2 NA18966.hp1 NA19065.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0047 a0001c0002t0003 a0001c0002t0004 a0001c0002t0047	a0001c0002t0003g0043 a0001c0002t0004g0003 a0001c0002t0004g0012 others(4): Show a0001c0002t0003g0043 a0001c0002t0004g0003 a0001c0002t0004g0012 a0001c0002t0004g0016 a0001c0002t0004g0017 a0001c0002t0004g0020 a0001c0002t0047g0042	7	342	0.0205	37	c.439 others(56): Show c.439-10644_439-10608dupCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCC	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74542762	G G	GAAGGAAG others(30): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01081.hp2 HG00738.hp1 HG01081.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0062 a0001c0003t0003g0070 a0001c0003t0003g0062 a0001c0003t0003g0070	2	342	0.0059	37	c.439 others(56): Show c.439-10646_439-10610dupTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTT	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74542766	G G	GAAGGAAG others(30): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0065 a0001c0003t0003g0065	1	342	0.0029	37	c.439 others(56): Show c.439-10650_439-10614dupTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTT	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74542781	G G	GGAAGGAA others(30): Show GGAAGGAAGGAAGGGAAGGAAGGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0057 a0001c0002t0020g0057	1	342	0.0029	37	c.439 others(56): Show c.439-10629_439-10628insTTTCCTTCCTTCCTTCCTTCCTTCCC TTCCTTCCTTC	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25			chr16	TogoVar
GLI4_chr8_143262445_143281931	143264628	T T	TGGCTCTG others(30): Show TGGCTCTGAGCTCATTAAATCAGCAACCTTTGCACTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02280.hp1 others(17): Show HG01891.hp1 HG02109.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02922.hp2 HG03130.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 NA19240.hp1 NA19240.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0009 a0003c0004t0002g0012 a0003c0004t0002g0041 others(5): Show a0003c0004t0002g0009 a0003c0004t0002g0012 a0003c0004t0002g0041 a0003c0004t0002g0048 a0003c0004t0002g0050 a0003c0004t0002g0051 a0003c0004t0002g0052 a0003c0004t0002g0075	20	394	0.0508	37	c.-28 others(48): Show c.-2894_-2893insGGCTCTGAGCTCATTAAATCAGCAACCTTTGCAC TCC	GLI4	ENSG00000250571.7	transcript	ENST00000340042.2	protein_coding		2816		chr8	TogoVar
GLI4_chr8_143262445_143281931	143264656	T T	TTTGCACT others(30): Show TTTGCACTCCGGCTCCGAGCTCATTAAATCAGCAACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(336): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0002 a0001c0003 a0001c0005 others(10): Show a0001c0002 a0001c0003 a0001c0005 a0001c0010 a0001c0012 a0002c0001 a0002c0006 a0002c0009 a0002c0011 a0002c0013 a0003c0004 a0004c0008 a0006c0014	a0001c0002t0001 a0001c0003t0001 a0001c0003t0004 others(15): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0004 a0001c0003t0005 a0001c0005t0001 a0001c0010t0001 a0001c0012t0001 a0002c0001t0001 a0002c0001t0003 a0002c0001t0006 a0002c0001t0007 a0002c0006t0001 a0002c0009t0001 a0002c0011t0001 a0002c0013t0001 a0003c0004t0001 a0004c0008t0001 a0006c0014t0001	a0001c0002t0001g0003 a0001c0002t0001g0006 a0001c0002t0001g0007 others(111): Show a0001c0002t0001g0003 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0031 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0049 a0001c0002t0001g0056 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0076 a0001c0003t0001g0004 a0001c0003t0001g0005 a0001c0003t0001g0025 a0001c0003t0001g0028 a0001c0003t0001g0030 a0001c0003t0001g0037 a0001c0003t0001g0054 a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0078 a0001c0003t0001g0105 a0001c0003t0001g0113 a0001c0003t0004g0015 a0001c0003t0004g0026 a0001c0003t0004g0038 a0001c0003t0004g0115 a0001c0003t0005g0004 a0001c0005t0001g0013 a0001c0005t0001g0053 a0001c0005t0001g0059 a0001c0005t0001g0060 a0001c0005t0001g0069 a0001c0005t0001g0072 a0001c0010t0001g0024 a0001c0012t0001g0067 a0002c0001t0001g0001 a0002c0001t0001g0002 a0002c0001t0001g0010 a0002c0001t0001g0011 a0002c0001t0001g0014 a0002c0001t0001g0017 a0002c0001t0001g0019 a0002c0001t0001g0021 a0002c0001t0001g0022 a0002c0001t0001g0023 a0002c0001t0001g0032 a0002c0001t0001g0033 a0002c0001t0001g0034 a0002c0001t0001g0035 a0002c0001t0001g0036 a0002c0001t0001g0081 a0002c0001t0001g0084 a0002c0001t0001g0085 a0002c0001t0001g0086 a0002c0001t0001g0087 a0002c0001t0001g0088 a0002c0001t0001g0089 a0002c0001t0001g0092 a0002c0001t0001g0093 a0002c0001t0001g0095 a0002c0001t0001g0096 a0002c0001t0001g0097 a0002c0001t0001g0098 a0002c0001t0001g0099 a0002c0001t0001g0100 a0002c0001t0001g0101 a0002c0001t0001g0102 a0002c0001t0001g0103 a0002c0001t0001g0104 a0002c0001t0001g0106 a0002c0001t0001g0107 a0002c0001t0001g0108 a0002c0001t0001g0109 a0002c0001t0001g0110 a0002c0001t0001g0112 a0002c0001t0001g0114 a0002c0001t0003g0002 a0002c0001t0003g0017 a0002c0001t0003g0090 a0002c0001t0003g0091 a0002c0001t0003g0094 a0002c0001t0006g0011 a0002c0001t0007g0083 a0002c0006t0001g0010 a0002c0006t0001g0111 a0002c0009t0001g0001 a0002c0009t0001g0002 a0002c0011t0001g0082 a0002c0013t0001g0034 a0003c0004t0001g0055 a0003c0004t0001g0079 a0003c0004t0001g0080 a0004c0008t0001g0029 a0004c0008t0001g0077 a0006c0014t0001g0031	339	394	0.8604	37	c.-28 others(48): Show c.-2866_-2865insTTGCACTCCGGCTCCGAGCTCATTAAATCAGCAA CCC	GLI4	ENSG00000250571.7	transcript	ENST00000340042.2	protein_coding		2788		chr8	TogoVar
GLOD4_chr17_754330_787280	769497	A A	AGAGAGCT others(30): Show AGAGAGCTGAGGGGGTCGGATGGAGGCATCTCCATGGG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03041.hp2 HG02615.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0298 a0001c0001t0001g0052 a0001c0001t0001g0298	2	420	0.0048	37	c.831 others(52): Show c.831+335_831+371dupCCCATGGAGATGCCTCCATCCGACCCCCTC AGCTCTC	GLOD4	ENSG00000167699.14	transcript	ENST00000301329.11	protein_coding	8/8			chr17	TogoVar
GLOD4_chr17_754330_787280	769588	G G	GGATGGAG others(30): Show GGATGGAGGCATCTCCATGGGGAGAGCTGAGGGGGTCA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01123.hp1 HG02135.hp2 others(15): Show HG00733.hp2 HG01123.hp1 HG02135.hp2 HG02451.hp2 HG02572.hp1 HG02602.hp2 HG02896.hp1 HG02965.hp1 HG03486.hp1 HG03516.hp2 NA18747.hp2 NA18943.hp2 NA18960.hp1 NA18968.hp2 NA18989.hp2 NA18994.hp2 NA19010.hp1 NA19083.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0002c0002t0002 a0002c0002t0008	a0001c0001t0001g0052 a0001c0001t0001g0296 a0001c0001t0001g0297 others(13): Show a0001c0001t0001g0052 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0004g0031 a0001c0001t0005g0055 a0002c0002t0002g0051 a0002c0002t0002g0301 a0002c0002t0002g0302 a0002c0002t0002g0303 a0002c0002t0002g0304 a0002c0002t0002g0305 a0002c0002t0002g0307 a0002c0002t0002g0308 a0002c0002t0002g0309 a0002c0002t0002g0310 a0002c0002t0008g0306	18	420	0.0429	37	c.831 others(52): Show c.831+280_831+281insTGACCCCCTCAGCTCTCCCCATGGAGATGC CTCCATC	GLOD4	ENSG00000167699.14	transcript	ENST00000301329.11	protein_coding	8/8			chr17	TogoVar
GLOD5_chrX_48756747_48778648	48766985	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18964.hp1 NA18990.hp1 NA18954.hp2 NA18964.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0001c0001t0001 a0001c0001t0002 a0001c0006t0001	a0001c0001t0001g0027 a0001c0001t0002g0167 a0001c0006t0001g0027 a0001c0001t0001g0027 a0001c0001t0002g0167 a0001c0006t0001g0027	3	269	0.0112	37	c.201 others(54): Show c.201+1033_201+1034insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	GLOD5	ENSG00000171433.12	transcript	ENST00000303227.11	protein_coding	2/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
GLRA1_chr5_151817513_151929851	151849454	T T	TCCTTCCC others(30): Show TCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18973.hp1 NA19030.hp2 HG00438.hp2 NA18973.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0008t0001g0178 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0008t0001g0178	3	284	0.0106	37	c.912 others(54): Show c.912+1935_912+1936insGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAAGG	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GLRA1_chr5_151817513_151929851	151849458	T T	TCCCTCCC others(30): Show TCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	284	0.0035	37	c.912 others(54): Show c.912+1931_912+1932insGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGG	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GLRA1_chr5_151817513_151929851	151849458	T T	TTCCTTTC others(30): Show TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03130.hp1 NA18948.hp1 HG02145.hp1 HG03130.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0160 a0001c0001t0001g0167 a0001c0001t0002g0267 a0001c0001t0001g0160 a0001c0001t0001g0167 a0001c0001t0002g0267	3	284	0.0106	37	c.912 others(54): Show c.912+1931_912+1932insGAAAGGAAAGGAAAGGAAAGGAAAGGAA AGGAAAGGA	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GLRA1_chr5_151817513_151929851	151849462	T T	TTCCTTTC others(30): Show TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0240 a0001c0001t0002g0240	1	284	0.0035	37	c.912 others(54): Show c.912+1927_912+1928insGAAAGGAAAGGAAAGGAAAGGAAAGGAA AGGAAAGGA	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GLRA2_chrX_14524536_14736812	14681904	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0229 a0001c0001t0003g0229	1	232	0.0043	37	c.931 others(54): Show c.931-8806_931-8805insTATATATATATATATATATATATATATA TATATATAT	GLRA2	ENSG00000101958.14	transcript	ENST00000218075.9	protein_coding	7/8			chrX	TogoVar
GLS2_chr12_56465952_56493161	56492071	A A	ACCAGCTG others(30): Show ACCAGCTGGGCGTGGTGGCTTATGCCTGTAATCCCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	362	0.0028	37	c.-39 others(48): Show c.-3954_-3953insGCTGGGATTACAGGCATAAGCCACCACGCCCAGC TGG	GLS2	ENSG00000135423.13	transcript	ENST00000311966.9	protein_coding		3911		chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128853225	C C	CTGGTCCT others(30): Show CTGGTCCTGGTCCCCGTGTGAGGGACTGTGGTCACCGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0294 a0001c0001t0003g0294	1	320	0.0031	37	c.-35 others(46): Show c.-357_-356insTGGTCCTGGTCCCCGTGTGAGGGACTGTGGTCACCG A	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding		252		chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128971670	C C	CCCCCCTC others(30): Show CCCCCCTCCCTCCTCCCTTCCCCCCTCCCTCCTCCCTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0236 a0001c0001t0004g0236	1	320	0.0031	37	c.880 others(56): Show c.880-11253_880-11217dupTCCCTCCTCCCTTCCCCCCTCCCTCC TCCCTTCCCCC	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128971746	C C	CCCCCATC others(30): Show CCCCCATCCCTCCTCCCTTCCCCCCTCCCTCCTCCCTT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	320	0.0031	37	c.880 others(56): Show c.880-11179_880-11178insATCCCTCCTCCCTTCCCCCCTCCCTC CTCCCTTCCCC	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128971746	C C	CCCCCCTC others(30): Show CCCCCCTCCCTCCTCCCTTCCCCCCTCCCTCCTCCCTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01993.hp1 HG02155.hp1 others(5): Show HG01433.hp2 HG01993.hp1 HG02155.hp1 HG02602.hp1 HG03704.hp2 NA18949.hp2 NA18950.hp2 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0001	a0001c0001t0001g0094 a0001c0001t0001g0214 a0001c0001t0001g0274 others(5): Show a0001c0001t0001g0094 a0001c0001t0001g0214 a0001c0001t0001g0274 a0001c0001t0001g0280 a0001c0001t0002g0300 a0001c0001t0006g0182 a0001c0002t0001g0107 a0001c0002t0001g0141	8	320	0.0250	37	c.880 others(56): Show c.880-11154_880-11153insCCTCCCTTCCCCCTCCCTCCTCCCTT CCCCCCTCCCT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar

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