JoGo: Joint Open Genome and Omics Platform

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
GAN_chr16_81309962_81395809	81353297	A A	AAAAAACA others(22): Show AAAAAACAAAAACAAAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0170 a0001c0003t0170	a0001c0003t0170g0023 a0001c0003t0170g0023	1	384	0.0026	29	c.283 others(46): Show c.283-1103_283-1102insCAAAAACAAAAAACAAAACAAAACAAAA A	GAN	ENSG00000261609.8	transcript	ENST00000648994.2	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
GAPVD1_chr9_125256826_125372207	125293852	T T	TTATATAT others(22): Show TTATATATATAAATATATTTTATATATATA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0171 a0001c0003t0006g0171	1	340	0.0029	29	c.-14 others(48): Show c.-149-1596_-149-1595insAATATATTTTATATATATATATATAT ATA	GAPVD1	ENSG00000165219.23	transcript	ENST00000297933.11	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GAREM1_chr18_32258522_32475882	32363920	A A	ACACACAC others(22): Show ACACACACACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0036 a0001c0017t0036	a0001c0017t0036g0010 a0001c0017t0036g0010	1	192	0.0052	29	c.262 others(48): Show c.262+28974_262+28975insATGTGTGTGTGTGTGTGTGTGTGTGT GTG	GAREM1	ENSG00000141441.16	transcript	ENST00000269209.7	protein_coding	2/5			chr18	TogoVar
GAREM1_chr18_32258522_32475882	32364026	A A	ATATATAT others(22): Show ATATATATATATGTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0004 a0002c0006t0004	a0002c0006t0004g0159 a0002c0006t0004g0159	1	192	0.0052	29	c.262 others(48): Show c.262+28868_262+28869insAAAAAAAAAAAAAAAAACATATATAT ATA	GAREM1	ENSG00000141441.16	transcript	ENST00000269209.7	protein_coding	2/5			chr18	TogoVar
GARIN5A_chr19_50461788_50481848	50472243	T T	TATGTATA others(22): Show TATGTATATATACATGTATGTGTATATATG	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	414	0.0024	29	c.539 others(46): Show c.539+3081_539+3082insCATATATACACATACATGTATATATACA T	GARIN5A	ENSG00000142530.11	transcript	ENST00000600100.6	protein_coding	3/4			chr19	TogoVar
GARNL3_chr9_127259774_127398660	127331720	C C	CTTGCTTT others(22): Show CTTGCTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03225.hp1 HG03486.hp2 HG02109.hp1 HG03225.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0020	3	300	0.0100	29	c.595 others(44): Show c.595-552_595-551insGCTTTTTTTTTTTTTTTTTTTTTTTTTTT	GARNL3	ENSG00000136895.19	transcript	ENST00000373387.9	protein_coding	7/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GARNL3_chr9_127259774_127398660	127331720	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00673.hp1 others(10): Show HG00423.hp1 HG00438.hp2 HG00673.hp1 HG02129.hp2 NA18943.hp2 NA18966.hp2 NA18970.hp1 NA18973.hp2 NA18988.hp2 NA18991.hp2 NA19007.hp1 NA19068.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0159 others(10): Show a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0159 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0233 a0001c0001t0001g0239 a0001c0001t0001g0262 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0291	13	300	0.0433	29	c.595 others(44): Show c.595-539_595-538insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GARNL3	ENSG00000136895.19	transcript	ENST00000373387.9	protein_coding	7/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GARNL3_chr9_127259774_127398660	127391533	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04199.hp1 HG04115.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0285 a0001c0001t0001g0153 a0001c0001t0001g0285	2	300	0.0067	29	c.287 others(46): Show c.2870+767_2870+768insAAAAAAAAAAAAAAAAAAAAATATATAT A	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(22): Show AAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01074.hp2 HG00741.hp2 HG01074.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0004 a0001c0001 a0007c0004	a0001c0001t0001 a0007c0004t0001 a0001c0001t0001 a0007c0004t0001	a0001c0001t0001g0271 a0007c0004t0001g0157 a0001c0001t0001g0271 a0007c0004t0001g0157	2	300	0.0067	29	c.287 others(46): Show c.2870+767_2870+768insAAAAAAAAAAAAAAAAAAATATATATAT A	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(22): Show AAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	300	0.0033	29	c.287 others(46): Show c.2870+767_2870+768insAAAAAAAAAAAAAAAAATATATATATAT A	GARNL3	ENSG00000136895.19	transcript	ENST00000373387.9	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GAS2_chr11_22661611_22818001	22789422	T T	TATATAAA others(22): Show TATATAAATATATATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0012 a0001c0002t0007g0012	1	272	0.0037	29	c.724 others(48): Show c.724-22376_724-22375insATATAAATATATATATATAAATATAT ATA	GAS2	ENSG00000148935.12	transcript	ENST00000454584.7	protein_coding	7/7			chr11	TogoVar
GAS7_chr17_9905606_10203606	10159063	A A	ACATATAT others(22): Show ACATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02486.hp2 NA18906.hp1 others(1): Show HG01106.hp2 HG02486.hp2 NA18906.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0016 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0016 a0001c0001t0058	a0001c0001t0002g0051 a0001c0001t0006g0134 a0001c0001t0016g0119 others(1): Show a0001c0001t0002g0051 a0001c0001t0006g0134 a0001c0001t0016g0119 a0001c0001t0058g0106	4	218	0.0184	29	c.183 others(48): Show c.183+39144_183+39145insATATATATATATATATATATATATAT ATG	GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding	1/13			chr17	TogoVar
GATA5_chr20_62458497_62480995	62471432	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0067 a0001c0003t0001g0067	1	382	0.0026	29	c.699 others(46): Show c.699+1970_699+1971insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding	3/6			chr20	TogoVar
GATAD2B_chr1_153799725_153927972	153839108	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18999.hp2 NA19068.hp2 NA18992.hp2 NA18999.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0002 a0001c0001t0014	a0001c0001t0002g0188 a0001c0001t0014g0191 a0001c0001t0014g0220 a0001c0001t0002g0188 a0001c0001t0014g0191 a0001c0001t0014g0220	3	349	0.0086	29	c.-1- others(46): Show c.-1-10761_-1-10760insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	1/10			chr1	TogoVar
GCGR_chr17_81799150_81819008	81817579	G G	GGGGTCCT others(22): Show GGGGTCCTCCCCCTGCACTCACTCAGCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG03041.hp2 NA21309.hp2 HG02895.hp1 HG03041.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	3	408	0.0074	29	c.38 others(40): Show c.3890_*3891insGGGTCCTCCCCCTGCACTCACTCAGCCCC	GCGR	ENSG00000215644.10	transcript	ENST00000400723.8	protein_coding		3572		chr17	TogoVar
GCNT2_chr6_10516351_10634368	10534139	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0311 a0001c0001t0002g0311	1	324	0.0031	29	c.925 others(46): Show c.925+4304_925+4305insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	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(22): Show CACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	324	0.0031	29	c.925 others(48): Show c.925+39438_925+39439insACACACACACACACACACACACACAC ACA	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4			chr6	TogoVar
GCNT2_chr6_10550809_10634368	10569274	C C	CACACACA others(22): Show CACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03017.hp1 NA18994.hp1 HG03017.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0193 a0001c0001t0001g0109 a0001c0001t0001g0193	2	344	0.0058	29	c.919 others(48): Show c.919+11932_919+11933insACACACACACACACACACACACACAC ACA	GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2			chr6	TogoVar
GCNT3_chr15_59606783_59627723	59610997	T T	TCCCCCTC others(22): Show TCCCCCTCCCCTCCCCCTCCCCCTCCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	428	0.0023	29	c.-12 others(40): Show c.-1235_-1234insCCCCCTCCCCTCCCCCTCCCCCTCCCCTC	GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding		785		chr15	TogoVar
GCSH_chr16_81076945_81101395	81080667	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01952.hp1 HG01952.hp2 others(2): Show HG01081.hp1 HG01952.hp1 HG01952.hp2 HG02109.hp1 NA18984.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0002 a0002c0002t0002 a0002c0004t0002 a0001c0001t0002 a0002c0002t0002 a0002c0004t0002	a0001c0001t0002g0119 a0002c0002t0002g0002 a0002c0004t0002g0014 others(1): Show a0001c0001t0002g0119 a0002c0002t0002g0002 a0002c0004t0002g0014 a0002c0004t0002g0029	5	354	0.0141	29	c.21 others(40): Show c.2198_*2199insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GCSH	ENSG00000140905.11	transcript	ENST00000315467.9	protein_coding		1277		chr16	TogoVar
GDF15_chr19_18381158_18394176	18387813	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0040 a0003c0003t0001g0040	1	424	0.0024	29	c.278 others(44): Show c.278-447_278-446insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	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(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02723.hp1 HG02886.hp1 others(4): Show HG02451.hp2 HG02723.hp1 HG02886.hp1 HG02886.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0009 a0001c0001 a0008c0009	a0001c0001t0008 a0008c0009t0024 a0008c0009t0114 others(1): Show a0001c0001t0008 a0008c0009t0024 a0008c0009t0114 a0008c0009t0166	a0001c0001t0008g0001 a0008c0009t0024g0001 a0008c0009t0114g0001 others(1): Show a0001c0001t0008g0001 a0008c0009t0024g0001 a0008c0009t0114g0001 a0008c0009t0166g0001	7	442	0.0158	29	c.-39 others(40): Show c.-3991_-3990insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GDF7	ENSG00000143869.7	transcript	ENST00000272224.5	protein_coding		3894		chr2	TogoVar
GEMIN6_chr2_38773210_38790002	38779664	A A	ATATATAT others(22): Show ATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0061 a0001c0001t0067g0061	1	412	0.0024	29	c.128 others(44): Show c.128+547_128+548insATATATATATATATATATATTTTTTTTTT	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(22): Show ATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0070 a0001c0001t0066g0070	1	412	0.0024	29	c.128 others(44): Show c.128+547_128+548insATATATATATATATATTTTTTTTTTTTTT	GEMIN6	ENSG00000152147.11	transcript	ENST00000281950.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG03209.hp1 NA18959.hp2 HG02056.hp1 HG03209.hp1 NA18959.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0003t0002 a0001c0005t0004 a0001c0003t0001 a0001c0003t0002 a0001c0005t0004	a0001c0003t0001g0243 a0001c0003t0002g0266 a0001c0005t0004g0195 a0001c0003t0001g0243 a0001c0003t0002g0266 a0001c0005t0004g0195	3	412	0.0073	29	c.41 others(40): Show c.4105_*4106insATATATATATTTTTTTTTTTTTTTTTTTT	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3239		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp2 HG01993.hp1 NA18612.hp2 others(2): Show HG01943.hp2 HG01993.hp1 NA18612.hp2 NA18941.hp1 NA18952.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0001 a0001c0003t0002g0311 a0001c0003t0002g0327 others(2): Show a0001c0003t0002g0001 a0001c0003t0002g0311 a0001c0003t0002g0327 a0001c0003t0002g0357 a0001c0003t0002g0363	5	412	0.0121	29	c.41 others(40): Show c.4105_*4106insATATATATATATTTTTTTTTTTTTTTTTT	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3239		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01175.hp1 HG01361.hp1 others(2): Show HG01070.hp2 HG01175.hp1 HG01361.hp1 HG02074.hp2 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0003t0002 a0001c0005t0029 a0001c0003t0001 a0001c0003t0002 a0001c0005t0029	a0001c0003t0001g0078 a0001c0003t0002g0001 a0001c0003t0002g0302 others(1): Show a0001c0003t0001g0078 a0001c0003t0002g0001 a0001c0003t0002g0302 a0001c0005t0029g0370	5	412	0.0121	29	c.41 others(40): Show c.4105_*4106insATATATATATATATTTTTTTTTTTTTTTT	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3239		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 NA19043.hp1 HG02647.hp2 NA19043.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0011 a0001c0005t0004 a0001c0005t0011	a0001c0005t0004g0201 a0001c0005t0011g0278 a0001c0005t0004g0201 a0001c0005t0011g0278	2	412	0.0049	29	c.41 others(40): Show c.4105_*4106insATATATATATATATATTTTTTTTTTTTTT	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3239		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(22): Show AAAAAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0262 a0001c0003t0002g0262	1	412	0.0024	29	c.41 others(40): Show c.4105_*4106insATATATATATATATATATATTTTTTTTTT	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3239		chr5	TogoVar
GFRAL_chr6_55322469_55407493	55374109	A A	AGCATATG others(22): Show AGCATATGTGGTATATATGTGGTATATATG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0157 a0003c0003t0002g0157	1	386	0.0026	29	c.952 others(48): Show c.952+14971_952+14972insGCATATGTGGTATATATGTGGTATAT ATG	GFRAL	ENSG00000187871.2	transcript	ENST00000340465.2	protein_coding	6/8			chr6	TogoVar
GFRAL_chr6_55322469_55407493	55395173	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0205 a0004c0004t0002g0205	1	386	0.0026	29	c.953 others(46): Show c.953-4007_953-4006insTATATATATATATATATATATATATATA T	GFRAL	ENSG00000187871.2	transcript	ENST00000340465.2	protein_coding	6/8			chr6	TogoVar
GFUS_chr8_143607618_143622549	143619147	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	415	0.0024	29	c.-16 others(40): Show c.-1686_-1685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GFUS	ENSG00000104522.16	transcript	ENST00000425753.7	protein_coding		1599		chr8	TogoVar
GFY_chr19_49420388_49433987	49429451	T T	TCACAGAG others(22): Show TCACAGAGACAGAGACACAAAGACACAACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	450	0.0022	29	c.63 others(38): Show c.633_*634insCACAGAGACAGAGACACAAAGACACAACC	GFY	ENSG00000261949.7	transcript	ENST00000610896.3	protein_coding		465		chr19	TogoVar
GGNBP2_chr17_36539919_36594848	36548615	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0023 a0001c0002t0003g0023	1	357	0.0028	29	c.93+ others(44): Show c.93+2807_93+2835dupAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GGNBP2	ENSG00000278311.5	transcript	ENST00000613102.5	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
GGNBP2_chr17_36539919_36594848	36575648	A A	ATATATAT others(22): Show ATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0210 a0001c0001t0002g0210	1	357	0.0028	29	c.642 others(46): Show c.642-2334_642-2333insATATATATATATATATATTTTTTTTTTT T	GGNBP2	ENSG00000278311.5	transcript	ENST00000613102.5	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
GHR_chr5_42418439_42726878	42474333	G G	GAAAGAAA others(22): Show GAAAGAAAGAAAGAAAGAAAGAAAAGAAAT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0038 a0002c0002t0001g0038	1	210	0.0048	29	c.-12 others(48): Show c.-12+50385_-12+50386insGAAAGAAAGAAAGAAAAGAAATAAAG AAA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42576099	T T	TAAAATAA others(22): Show TAAAATAAAATAAAATAAAATAATAAAATA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0172 a0002c0002t0001g0172	1	210	0.0048	29	c.70+ others(46): Show c.70+10158_70+10159insATAAAATAAAATAAAATAATAAAATAAA A	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42576099	T T	TAAAATAA others(22): Show TAAAATAAAATAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	210	0.0048	29	c.70+ others(46): Show c.70+10158_70+10159insATAAAATAATAAAATAAAATAAAATAAA A	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GINS2_chr16_85671198_85693954	85685670	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA19057.hp1 HG02080.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0038 a0001c0001t0004 a0001c0001t0038	a0001c0001t0004g0285 a0001c0001t0038g0284 a0001c0001t0004g0285 a0001c0001t0038g0284	2	470	0.0043	29	c.205 others(46): Show c.205+1789_205+1790insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	GINS2	ENSG00000131153.9	transcript	ENST00000253462.8	protein_coding	2/4			chr16	TogoVar
GINS4_chr8_41524261_41550030	41546849	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	426	0.0024	29	c.47 others(40): Show c.4762_*4763insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GINS4	ENSG00000147536.12	transcript	ENST00000276533.4	protein_coding		1820		chr8	TogoVar
GJA10_chr6_89889469_89901120	89901036	T T	TGCTCTGG others(22): Show TGCTCTGGGACTCACCCTCCTCCCCCCAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	386	0.0026	29	c.49 others(40): Show c.4936_*4937insGCTCTGGGACTCACCCTCCTCCCCCCAAG	GJA10	ENSG00000135355.4	transcript	ENST00000369352.1	protein_coding		4917		chr6	TogoVar
GJA9_chr1_38869069_38886587	38882346	A A	ATTTACAT others(22): Show ATTTACATATATATATTTTTATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0027 a0001c0005t0001g0027	1	444	0.0023	29	c.-10 others(40): Show c.-1011_-1010insATATATATATAAAAATATATATATGTAAA	GJA9	ENSG00000131233.10	transcript	ENST00000357771.5	protein_coding		760		chr1	TogoVar
GJB6_chr13_20216962_20237319	20218592	C C	CTTTCTTT others(22): Show CTTTCTTTCTTTCCTTCTTTCCTTCCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00597.hp2 HG00621.hp2 others(25): Show HG00280.hp1 HG00597.hp2 HG00621.hp2 HG01109.hp1 HG01261.hp1 HG01358.hp2 HG01891.hp1 HG02148.hp1 HG02523.hp1 HG03098.hp1 HG03139.hp1 HG03209.hp2 HG03239.hp2 HG03516.hp1 HG04115.hp2 NA18939.hp1 NA18946.hp2 NA18964.hp1 NA18966.hp1 NA18970.hp1 NA18977.hp1 NA18984.hp2 NA18985.hp2 NA18997.hp1 NA19056.hp1 NA19056.hp2 NA19081.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0025 others(24): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0076 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0158 a0001c0001t0001g0177 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0002g0292 a0001c0001t0003g0045 a0001c0001t0003g0333 a0001c0001t0003g0335 a0001c0001t0003g0355 a0001c0001t0011g0307	28	460	0.0609	29	c.41 others(40): Show c.4102_*4103insAGAAGGAAGGAAAGAAGGAAAGAAAGAAA	GJB6	ENSG00000121742.19	transcript	ENST00000647029.1	protein_coding		3369		chr13	TogoVar
GLB1_chr3_32991617_33102146	33099950	C C	CCCATGTC others(22): Show CCCATGTCGGCCTCCTGAGTAGCTAAGTAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	394	0.0025	29	c.-28 others(40): Show c.-2866_-2865insCTACTTAGCTACTCAGGAGGCCGACATGG	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding		2805		chr3	TogoVar
GLCCI1_chr7_7963796_8094080	7966733	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02809.hp1 NA19002.hp2 HG02615.hp1 HG02809.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0008 a0001c0002t0005 a0001c0001t0001 a0001c0001t0008 a0001c0002t0005	a0001c0001t0001g0289 a0001c0001t0008g0364 a0001c0002t0005g0130 a0001c0001t0001g0289 a0001c0001t0008g0364 a0001c0002t0005g0130	3	416	0.0072	29	c.-26 others(40): Show c.-2618_-2617insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GLCCI1	ENSG00000106415.13	transcript	ENST00000223145.10	protein_coding		2062		chr7	TogoVar
GLCCI1_chr7_7963796_8094080	7976479	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0195 a0001c0001t0012g0195	1	416	0.0024	29	c.457 others(46): Show c.457+6691_457+6692insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	GLCCI1	ENSG00000106415.13	transcript	ENST00000223145.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
GLCE_chr15_69155635_69277207	69236218	A A	AAATGTAT others(22): Show AAATGTATACATTAATAAACTGTAATAAAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02630.hp2 HG02647.hp1 others(14): Show HG02258.hp1 HG02630.hp2 HG02647.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03516.hp1 HG06807.hp2 NA18906.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0005 a0001c0003t0006 others(3): Show a0001c0001t0003 a0001c0003t0005 a0001c0003t0006 a0001c0003t0014 a0001c0003t0016 a0001c0003t0026	a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0003t0005g0003 others(13): Show a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0003t0005g0003 a0001c0003t0005g0137 a0001c0003t0005g0139 a0001c0003t0005g0140 a0001c0003t0005g0141 a0001c0003t0006g0134 a0001c0003t0006g0135 a0001c0003t0006g0138 a0001c0003t0006g0142 a0001c0003t0006g0326 a0001c0003t0014g0131 a0001c0003t0014g0136 a0001c0003t0016g0327 a0001c0003t0026g0143	17	342	0.0497	29	c.-13 others(48): Show c.-13-19574_-13-19573insTGTATACATTAATAAACTGTAATAAA TAA	GLCE	ENSG00000138604.10	transcript	ENST00000261858.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr15	TogoVar
GLG1_chr16_74442440_74612114	74498447	A A	AAGTATAT others(22): Show AAGTATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp1 HG00642.hp1 others(42): Show HG00323.hp1 HG00558.hp1 HG00642.hp1 HG01070.hp2 HG01109.hp1 HG01123.hp2 HG01516.hp1 HG02040.hp1 HG02109.hp1 HG02165.hp1 HG02451.hp2 HG02486.hp1 HG02622.hp2 HG02630.hp2 HG02735.hp2 HG02809.hp1 HG02895.hp2 HG02897.hp1 HG03017.hp2 HG03041.hp2 HG03139.hp2 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG04228.hp2 NA18747.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18962.hp1 NA18964.hp2 NA18967.hp2 NA18968.hp2 NA18971.hp1 NA18984.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19010.hp2 NA19011.hp2 NA19065.hp1 NA19086.hp2 NA19088.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0012 a0001c0001t0035 a0001c0001t0040 a0001c0004t0001 a0001c0004t0015	a0001c0001t0001g0090 a0001c0001t0001g0157 a0001c0001t0001g0179 others(42): Show a0001c0001t0001g0090 a0001c0001t0001g0157 a0001c0001t0001g0179 a0001c0001t0001g0211 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0236 a0001c0001t0001g0307 a0001c0001t0001g0324 a0001c0001t0002g0097 a0001c0001t0002g0106 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0117 a0001c0001t0002g0126 a0001c0001t0002g0129 a0001c0001t0002g0131 a0001c0001t0002g0142 a0001c0001t0002g0146 a0001c0001t0002g0151 a0001c0001t0002g0154 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0214 a0001c0001t0002g0233 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0292 a0001c0001t0002g0296 a0001c0001t0002g0298 a0001c0001t0005g0107 a0001c0001t0005g0108 a0001c0001t0005g0115 a0001c0001t0005g0119 a0001c0001t0005g0122 a0001c0001t0005g0128 a0001c0001t0005g0137 a0001c0001t0005g0161 a0001c0001t0005g0331 a0001c0001t0012g0093 a0001c0001t0035g0186 a0001c0001t0040g0304 a0001c0004t0001g0089 a0001c0004t0001g0206 a0001c0004t0015g0212	45	342	0.1316	29	c.775 others(46): Show c.775-1804_775-1803insATATATATATATATATATATATATATAC T	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	4/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74498447	A A	AAGTGTAT others(22): Show AAGTGTATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01361.hp1 HG02683.hp2 others(2): Show HG00738.hp1 HG01361.hp1 HG02683.hp2 NA19090.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0010 a0001c0003t0003 a0001c0003t0010	a0001c0003t0003g0062 a0001c0003t0003g0064 a0001c0003t0003g0065 others(2): Show a0001c0003t0003g0062 a0001c0003t0003g0064 a0001c0003t0003g0065 a0001c0003t0003g0327 a0001c0003t0010g0071	5	342	0.0146	29	c.775 others(46): Show c.775-1804_775-1803insATATATATATATATATATATATATACAC T	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	4/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74539999	A A	ATATATTA others(22): Show ATATATTATATATATATTATATATATATTT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	342	0.0029	29	c.439 others(46): Show c.439-7847_439-7846insAAATATATATATAATATATATATAATAT A	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25			chr16	TogoVar

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