Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
GATA5_chr20_62458497_62480995	62477301	T T	TCCTCCCT others(13): Show TCCTCCCTCCCTCCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0005 a0002c0006t0005	a0002c0006t0005g0017 a0002c0006t0005g0017	1	382	0.0026	20	c.-13 others(31): Show c.-1394_-1393insGAGGGAGGGAGGGAGGGAGG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1307		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477303	T T	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0064 a0001c0004t0003g0064	1	382	0.0026	20	c.-13 others(31): Show c.-1396_-1395insGGAAGGAAGGAAGGAAGGAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1309		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCCTCCCT others(13): Show TCCTCCCTCCCTCCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0095 a0001c0004t0007g0095	1	382	0.0026	20	c.-13 others(31): Show c.-1398_-1397insGAGGGAGGGAGGGAGGGAGG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCCTTCCT others(13): Show TCCTTCCTCCCTCCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0204 a0001c0003t0002g0204	1	382	0.0026	20	c.-13 others(31): Show c.-1398_-1397insGAGGGAGGGAGGGAGGAAGG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCCT others(13): Show TCTTTCCTCCCTCCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0092 a0001c0004t0003g0092	1	382	0.0026	20	c.-13 others(31): Show c.-1398_-1397insGAGGGAGGGAGGGAGGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCCT others(13): Show TCTTTCCTTCCTCCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG01517.hp1 NA18971.hp1 HG00609.hp1 HG01517.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0004t0005 a0001c0001t0001 a0001c0001t0004 a0001c0004t0005	a0001c0001t0001g0001 a0001c0001t0004g0072 a0001c0004t0005g0271 a0001c0001t0001g0001 a0001c0001t0004g0072 a0001c0004t0005g0271	3	382	0.0079	20	c.-13 others(31): Show c.-1398_-1397insGAGGGAGGGAGGAAGGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(13): Show TCTTTCTTTCCTCCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 NA19058.hp1 HG01433.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0028 a0001c0001t0006g0181 a0001c0001t0004g0028 a0001c0001t0006g0181	2	382	0.0052	20	c.-13 others(31): Show c.-1398_-1397insGAGGGAGGGAGGAAAGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(13): Show TCTTTCTTTCCTTCCTTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	382	0.0026	20	c.-13 others(31): Show c.-1398_-1397insGAGGAAGGAAGGAAAGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(13): Show TCTTTCTTTCTTTCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01256.hp1 HG02698.hp2 others(1): Show HG00741.hp2 HG01256.hp1 HG02698.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0005 a0001c0001t0001 a0001c0001t0002 a0001c0004t0005	a0001c0001t0001g0159 a0001c0001t0001g0205 a0001c0001t0002g0174 others(1): Show a0001c0001t0001g0159 a0001c0001t0001g0205 a0001c0001t0002g0174 a0001c0004t0005g0093	4	382	0.0105	20	c.-13 others(31): Show c.-1398_-1397insGAGGGAGGAAAGAAAGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(13): Show TCTTTCTTTCTTTCTTTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0194 a0001c0002t0002g0194	1	382	0.0026	20	c.-13 others(31): Show c.-1398_-1397insGAGGAAAGAAAGAAAGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA6_chr18_22164589_22207528	22204288	C C	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02738.hp2 HG02886.hp2 others(1): Show HG02280.hp1 HG02738.hp2 HG02886.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0154 a0001c0001t0001g0242 a0001c0001t0002g0030 others(1): Show a0001c0001t0001g0154 a0001c0001t0001g0242 a0001c0001t0002g0030 a0001c0001t0002g0112	4	286	0.0140	20	c.34 others(31): Show c.3465_*3466insTCTTTCTTTCTTTCTTTCTT	GATA6	ENSG00000141448.11	transcript	ENST00000269216.10	protein_coding		1761		chr18	TogoVar
GATAD2B_chr1_153799725_153927972	153861795	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0317 a0001c0001t0001g0317	1	349	0.0029	20	c.-1- others(37): Show c.-1-33448_-1-33447insATATTTTTTTTTTTTTTTTT	GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	1/10			chr1	TogoVar
GATAD2B_chr1_153799725_153927972	153861795	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01981.hp1 HG03669.hp2 others(2): Show HG00741.hp1 HG01981.hp1 HG03669.hp2 NA19011.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0267 a0001c0001t0001g0288 others(2): Show a0001c0001t0001g0005 a0001c0001t0001g0267 a0001c0001t0001g0288 a0001c0001t0001g0292 a0001c0001t0001g0324	5	349	0.0143	20	c.-1- others(37): Show c.-1-33448_-1-33447insATATATTTTTTTTTTTTTTT	GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	1/10			chr1	TogoVar
GATAD2B_chr1_153799725_153927972	153861795	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02300.hp1 HG02738.hp1 others(6): Show HG00621.hp2 HG02300.hp1 HG02738.hp1 NA18956.hp1 NA18968.hp2 NA19007.hp2 NA19062.hp1 NA19085.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0047 a0001c0001t0001 a0001c0001t0007 a0001c0001t0047	a0001c0001t0001g0001 a0001c0001t0001g0244 a0001c0001t0001g0249 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0244 a0001c0001t0001g0249 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0320 a0001c0001t0007g0246 a0001c0001t0047g0022	9	349	0.0258	20	c.-1- others(37): Show c.-1-33448_-1-33447insATATATATTTTTTTTTTTTT	GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	1/10			chr1	TogoVar
GATAD2B_chr1_153799725_153927972	153861795	A A	AAAAAAAA others(13): Show AAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG04115.hp1 HG02071.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0307 a0001c0001t0001g0033 a0001c0001t0001g0307	2	349	0.0057	20	c.-1- others(37): Show c.-1-33448_-1-33447insATATATATATTTTTTTTTTT	GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	1/10			chr1	TogoVar
GATAD2B_chr1_153799725_153927972	153876227	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0057 a0001c0001t0004g0057	1	349	0.0029	20	c.-2+ others(37): Show c.-2+46486_-2+46505dupTTTTTTTTTTTTTTTTTTTT	GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	1/10			chr1	TogoVar
GATB_chr4_151665504_151766007	151697953	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0260 a0001c0001t0002g0260	1	320	0.0031	20	c.119 others(39): Show c.1197+3356_1197+3375dupTATATATATATATATATATA	GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding	9/12			chr4	TogoVar
GATB_chr4_151665504_151766007	151735734	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01109.hp2 HG01175.hp1 others(13): Show HG01070.hp1 HG01109.hp2 HG01175.hp1 HG01192.hp2 HG01496.hp2 HG02040.hp2 HG02055.hp1 HG02451.hp1 HG02723.hp1 HG02976.hp1 HG03041.hp1 HG03209.hp1 HG03471.hp2 HG04228.hp1 NA19030.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 others(13): Show a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0187	16	320	0.0500	20	c.328 others(39): Show c.328-16197_328-16196insTATATATATATATATATATA	GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding	2/12			chr4	TogoVar
GATB_chr4_151665504_151766007	151765852	C C	CAGAGAGA others(13): Show CAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG01978.hp2 HG03098.hp2 others(4): Show HG00280.hp1 HG01978.hp2 HG03098.hp2 HG03139.hp2 HG03209.hp2 NA18906.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0004c0008t0001 a0001c0001t0001 a0004c0008t0001	a0001c0001t0001g0093 a0001c0001t0001g0123 a0001c0001t0001g0125 others(4): Show a0001c0001t0001g0093 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0175 a0001c0001t0001g0308 a0004c0008t0001g0190	7	320	0.0219	20	c.-48 others(31): Show c.-4871_-4870insCTCTCTCTCTCTCTCTCTCT	GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding		4846		chr4	TogoVar
GATC_chr12_120441444_120468749	120451875	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0152 a0001c0001t0003g0152	1	408	0.0025	20	c.254 others(37): Show c.254+5047_254+5066dupTTTTTTTTTTTTTTTTTTTT	GATC	ENSG00000257218.6	transcript	ENST00000551765.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
GBA1_chr1_155229452_155246249	155244825	A A	AGAGCGAG others(13): Show AGAGCGAGAGAGCGAGAGAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG03490.hp1 HG02683.hp2 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0002 a0001c0001t0001g0014	2	393	0.0051	20	c.-37 others(31): Show c.-3714_-3713insGCTCTCTCGCTCTCTCGCTC	GBA1	ENSG00000177628.16	transcript	ENST00000368373.8	protein_coding		3577		chr1	TogoVar
GBE1_chr3_81484703_81766645	81546200	G G	GCACACAC others(13): Show GCACACACACACACAAACTCA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0007 a0001c0004t0001g0007	1	304	0.0033	20	c.161 others(39): Show c.1619-9125_1619-9106dupTGAGTTTGTGTGTGTGTGTG	GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	12/15			chr3	TogoVar
GBE1_chr3_81484703_81766645	81737413	T T	TTATATAA others(13): Show TTATATAAATATATATTTATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00558.hp2 others(68): Show HG00099.hp2 HG00408.hp2 HG00558.hp2 HG00609.hp2 HG00639.hp1 HG00673.hp1 HG00738.hp1 HG01099.hp2 HG01123.hp1 HG01168.hp1 HG01256.hp2 HG01433.hp1 HG01884.hp2 HG02015.hp2 HG02055.hp2 HG02056.hp1 HG02083.hp2 HG02109.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02622.hp2 HG02647.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03195.hp2 HG03516.hp2 HG03579.hp1 HG03834.hp1 NA18940.hp1 NA18940.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18947.hp2 NA18949.hp2 NA18952.hp1 NA18956.hp1 NA18960.hp2 NA18965.hp2 NA18967.hp2 NA18971.hp2 NA18975.hp2 NA18977.hp1 NA18989.hp1 NA18990.hp1 NA18995.hp1 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19007.hp1 NA19010.hp1 NA19030.hp2 NA19056.hp1 NA19062.hp2 NA19066.hp2 NA19074.hp1 NA19080.hp1 NA19081.hp2 NA19086.hp1 NA19088.hp2 NA20129.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0010 a0012 a0013	a0001c0001 a0001c0006 a0002c0002 others(5): Show a0001c0001 a0001c0006 a0002c0002 a0003c0012 a0004c0005 a0010c0011 a0012c0017 a0013c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0014 a0001c0006t0002 a0002c0002t0002 a0003c0012t0012 a0004c0005t0002 a0010c0011t0002 a0012c0017t0002 a0013c0009t0002	a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 others(68): Show a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0197 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0003g0204 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0215 a0001c0001t0003g0248 a0001c0001t0010g0257 a0001c0001t0010g0258 a0001c0001t0014g0256 a0001c0006t0002g0199 a0001c0006t0002g0200 a0001c0006t0002g0201 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0213 a0002c0002t0002g0229 a0003c0012t0012g0198 a0004c0005t0002g0230 a0004c0005t0002g0231 a0004c0005t0002g0233 a0010c0011t0002g0236 a0012c0017t0002g0217 a0013c0009t0002g0127	71	304	0.2336	20	c.143 others(39): Show c.143+23961_143+23962insTATAAATATATATTTATATA	GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	1/15			chr3	TogoVar
GBF1_chr10_102240532_102387896	102242928	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0017 a0001c0004t0004g0017	1	330	0.0030	20	c.-28 others(31): Show c.-2864_-2863insAAAAAAAAAAAAAAAAAAAA	GBF1	ENSG00000107862.7	transcript	ENST00000369983.5	protein_coding		2603		chr10	TogoVar
GBF1_chr10_102240532_102387896	102331851	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02965.hp2 NA18522.hp1 HG02280.hp1 HG02965.hp2 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0013 a0001c0004t0004g0014 a0001c0004t0004g0017 a0001c0004t0004g0013 a0001c0004t0004g0014 a0001c0004t0004g0017	3	330	0.0091	20	c.164 others(39): Show c.164-12193_164-12174dupTTTTTTTTTTTTTTTTTTTT	GBF1	ENSG00000107862.7	transcript	ENST00000369983.5	protein_coding	3/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
GBGT1_chr9_133147948_133168914	133160311	A A	AATAATAA others(13): Show AATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0015 a0015	a0015c0035 a0015c0035	a0015c0035t0002 a0015c0035t0002	a0015c0035t0002g0130 a0015c0035t0002g0130	1	446	0.0022	20	c.137 others(37): Show c.137+1155_137+1156insATTATTATTATTATTATTAT	GBGT1	ENSG00000148288.13	transcript	ENST00000372040.9	protein_coding	3/6			chr9	TogoVar
GBP3_chr1_89001680_89027866	89021510	G G	GCGCGCGC others(13): Show GCGCGCGCGCGCACACACACA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0302 a0001c0001t0007g0302	1	436	0.0023	20	c.-22 others(35): Show c.-22-768_-22-767insTGTGTGTGTGCGCGCGCGCG	GBP3	ENSG00000117226.12	transcript	ENST00000370481.9	protein_coding	1/10			chr1	TogoVar
GBP3_chr1_89001680_89027866	89021788	T T	TGAGAGAG others(13): Show TGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0160 a0003c0003t0005g0160	1	436	0.0023	20	c.-23 others(35): Show c.-23+876_-23+895dupTCTCTCTCTCTCTCTCTCTC	GBP3	ENSG00000117226.12	transcript	ENST00000370481.9	protein_coding	1/10			chr1	TogoVar
GBX2_chr2_236160236_236173386	236160238	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02922.hp1 HG02970.hp2 HG02717.hp2 HG02922.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010	a0001c0001t0002g0002 a0001c0001t0004g0006 a0001c0001t0010g0010 a0001c0001t0002g0002 a0001c0001t0004g0006 a0001c0001t0010g0010	3	342	0.0088	20	c.56 others(31): Show c.5675_*5676insACACACACACACACACACAC	GBX2	ENSG00000168505.7	transcript	ENST00000306318.5	protein_coding		4997		chr2	TogoVar
GCC2_chr2_108444206_108514415	108459745	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0127 a0001c0001t0003g0127	1	276	0.0036	20	c.216 others(37): Show c.216+7293_216+7312dupTTTTTTTTTTTTTTTTTTTT	GCC2	ENSG00000135968.22	transcript	ENST00000309863.11	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
GCC2_chr2_108444206_108514415	108509733	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0112 a0002c0003t0003g0112	1	276	0.0036	20	c.21 others(31): Show c.2103_*2104insTTTTTTTTTTTTTTTTTTTT	GCC2	ENSG00000135968.22	transcript	ENST00000309863.11	protein_coding		319		chr2	TogoVar
GCH1_chr14_54837017_54907826	54855505	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0031 a0001c0001t0004g0031	1	346	0.0029	20	c.509 others(37): Show c.509+4156_509+4175dupTTTTTTTTTTTTTTTTTTTT	GCH1	ENSG00000131979.20	transcript	ENST00000491895.7	protein_coding	3/5			chr14	TogoVar
GCH1_chr14_54837017_54907826	54863848	G G	GTTGTTTG others(13): Show GTTGTTTGTTTGTTTGTTTGT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA19009.hp1 NA18943.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0299 a0001c0001t0001g0252 a0001c0001t0001g0299	2	346	0.0058	20	c.453 others(37): Show c.453+1459_453+1478dupACAAACAAACAAACAAACAA	GCH1	ENSG00000131979.20	transcript	ENST00000491895.7	protein_coding	2/5			chr14	TogoVar
GCH1_chr14_54837017_54907826	54905608	A A	ATCTCTCT others(13): Show ATCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02622.hp1 HG02976.hp2 others(1): Show HG01109.hp1 HG02622.hp1 HG02976.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0067 a0001c0001t0002g0071 others(1): Show a0001c0001t0002g0064 a0001c0001t0002g0067 a0001c0001t0002g0071 a0001c0001t0002g0075	4	346	0.0116	20	c.-29 others(31): Show c.-2946_-2945insGAGAGAGAGAGAGAGAGAGA	GCH1	ENSG00000131979.20	transcript	ENST00000491895.7	protein_coding		2783		chr14	TogoVar
GCM2_chr6_10868223_10887041	10883180	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	426	0.0024	20	c.-13 others(31): Show c.-1388_-1387insAAAAAAAAAAAAAAAAAAAA	GCM2	ENSG00000124827.7	transcript	ENST00000379491.5	protein_coding		1140		chr6	TogoVar
GCNT2_chr6_10516351_10634368	10534139	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01993.hp1 HG02071.hp2 others(36): Show HG00642.hp2 HG01993.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02523.hp1 HG02559.hp2 HG02922.hp2 HG03017.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 NA18747.hp2 NA18946.hp1 NA18946.hp2 NA18951.hp1 NA18959.hp2 NA18962.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp2 NA18993.hp1 NA19007.hp2 NA19055.hp2 NA19063.hp1 NA19063.hp2 NA19070.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0133 a0001c0001t0001g0154 a0001c0001t0001g0158 others(36): Show a0001c0001t0001g0133 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0299 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0002g0134 a0001c0001t0002g0153 a0001c0001t0002g0161 a0001c0001t0002g0176 a0001c0001t0002g0193 a0001c0001t0002g0258 a0001c0001t0002g0277 a0001c0001t0002g0303 a0001c0001t0007g0243 a0001c0001t0007g0244 a0001c0001t0007g0245	39	324	0.1204	20	c.925 others(37): Show c.925+4304_925+4305insTTTTTTTTTTTTTTTTTTTT	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10516351_10634368	10569235	C C	CCACACAC others(13): Show CCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00642.hp2 HG01071.hp2 others(17): Show HG00558.hp1 HG00642.hp2 HG01071.hp2 HG01169.hp2 HG01516.hp2 HG01517.hp2 HG01934.hp2 HG01952.hp2 HG02109.hp2 HG02257.hp1 HG02451.hp1 HG02738.hp2 HG03239.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG04184.hp1 NA18981.hp1 NA19007.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0017 a0001c0001t0020	a0001c0001t0001g0060 a0001c0001t0001g0087 a0001c0001t0001g0140 others(17): Show a0001c0001t0001g0060 a0001c0001t0001g0087 a0001c0001t0001g0140 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0168 a0001c0001t0001g0185 a0001c0001t0001g0192 a0001c0001t0001g0212 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0248 a0001c0001t0001g0272 a0001c0001t0002g0136 a0001c0001t0002g0204 a0001c0001t0002g0283 a0001c0001t0002g0301 a0001c0001t0007g0245 a0001c0001t0017g0067 a0001c0001t0020g0152	20	324	0.0617	20	c.925 others(39): Show c.925+39419_925+39438dupACACACACACACACACACAC	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10550809_10634368	10569235	C C	CCACACAC others(13): Show CCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00642.hp2 HG01070.hp1 others(20): Show HG00558.hp2 HG00642.hp2 HG01070.hp1 HG01071.hp1 HG01169.hp1 HG01261.hp1 HG01358.hp2 HG01516.hp2 HG01517.hp2 HG01934.hp2 HG01952.hp2 HG02109.hp2 HG02257.hp1 HG02451.hp2 HG02738.hp2 HG03239.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG04184.hp2 NA18981.hp1 NA19080.hp2 NA20805.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0001t0019 a0005c0005t0001	a0001c0001t0001g0067 a0001c0001t0001g0093 a0001c0001t0001g0135 others(20): Show a0001c0001t0001g0067 a0001c0001t0001g0093 a0001c0001t0001g0135 a0001c0001t0001g0149 a0001c0001t0001g0163 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0267 a0001c0001t0001g0337 a0001c0001t0001g0341 a0001c0001t0002g0025 a0001c0001t0002g0102 a0001c0001t0002g0108 a0001c0001t0002g0205 a0001c0001t0002g0229 a0001c0001t0016g0334 a0001c0001t0019g0107 a0005c0005t0001g0319	23	344	0.0669	20	c.919 others(39): Show c.919+11913_919+11932dupACACACACACACACACACAC	GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT4_chr5_75020346_75057558	75032872	G G	GGTGGGTG others(13): Show GGTGGGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG04115.hp1 HG01361.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0222 a0001c0001t0004g0220 a0001c0001t0001g0222 a0001c0001t0004g0220	2	382	0.0052	20	c.-1- others(35): Show c.-1-2835_-1-2834insACACACACACACACACCCAC	GCNT4	ENSG00000176928.7	transcript	ENST00000652361.2	protein_coding	3/3			chr5	TogoVar
GCNT4_chr5_75020346_75057558	75032872	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0029 a0003c0003t0029	a0003c0003t0029g0092 a0003c0003t0029g0092	1	382	0.0026	20	c.-1- others(35): Show c.-1-2854_-1-2835dupACACACACACACACACACAC	GCNT4	ENSG00000176928.7	transcript	ENST00000652361.2	protein_coding	3/3			chr5	TogoVar
GC_chr4_71736697_71789079	71755148	C C	CTATTTAT others(13): Show CTATTTATTTATTTATTTATT	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA18946.hp1 NA19030.hp2 HG03831.hp2 NA18946.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0112 a0001c0001t0002g0274 a0001c0001t0002g0307 a0001c0001t0001g0112 a0001c0001t0002g0274 a0001c0001t0002g0307	3	388	0.0077	20	c.103 others(35): Show c.1035-61_1035-42dupAATAAATAAATAAATAAATA	GC	ENSG00000145321.13	transcript	ENST00000273951.13	protein_coding	8/12			chr4	TogoVar
GDAP1L1_chr20_44242308_44285947	44276355	A A	AAAGGAAG others(13): Show AAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00673.hp2 others(41): Show HG00140.hp2 HG00423.hp2 HG00673.hp2 HG00735.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01516.hp2 HG01928.hp1 HG01975.hp1 HG02027.hp2 HG02040.hp1 HG02129.hp1 HG02273.hp2 HG02523.hp2 HG02572.hp1 HG02615.hp2 HG02683.hp2 HG03471.hp1 HG03704.hp1 HG03942.hp2 HG04228.hp1 NA18944.hp1 NA18947.hp1 NA18952.hp1 NA18954.hp2 NA18959.hp2 NA18961.hp1 NA18973.hp2 NA18977.hp1 NA18979.hp2 NA18981.hp1 NA18986.hp1 NA18990.hp1 NA18992.hp2 NA18999.hp1 NA19003.hp1 NA19063.hp2 NA19065.hp1 NA19084.hp1 NA19088.hp1 NA19089.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0012 a0001c0001t0015	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(23): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0110 a0001c0001t0002g0120 a0001c0001t0005g0032 a0001c0001t0012g0115 a0001c0001t0015g0001	44	392	0.1122	20	c.761 others(37): Show c.761-2591_761-2572dupGGAAGGAAGGAAGGAAGGAA	GDAP1L1	ENSG00000124194.17	transcript	ENST00000342560.10	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
GDAP1L1_chr20_44242308_44285947	44276412	A A	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00621.hp2 others(53): Show HG00280.hp2 HG00323.hp1 HG00621.hp2 HG01081.hp1 HG01106.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG02027.hp1 HG02040.hp1 HG02071.hp2 HG02129.hp2 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02615.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02976.hp1 HG03017.hp1 HG03225.hp1 HG03453.hp2 HG03490.hp1 HG03492.hp2 HG03540.hp2 HG03688.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18977.hp2 NA18982.hp2 NA18983.hp1 NA18991.hp2 NA19011.hp2 NA19054.hp2 NA19068.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19087.hp2 NA19088.hp2 NA20129.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0005 a0001c0001 a0002c0002 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 a0001c0001t0017 a0002c0002t0007 a0003c0005t0009	a0001c0001t0001g0027 a0001c0001t0001g0046 a0001c0001t0001g0168 others(50): Show a0001c0001t0001g0027 a0001c0001t0001g0046 a0001c0001t0001g0168 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0216 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0249 a0001c0001t0001g0264 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0288 a0001c0001t0001g0291 a0001c0001t0001g0303 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0321 a0001c0001t0001g0328 a0001c0001t0002g0019 a0001c0001t0002g0039 a0001c0001t0002g0120 a0001c0001t0002g0128 a0001c0001t0002g0135 a0001c0001t0002g0140 a0001c0001t0002g0147 a0001c0001t0002g0160 a0001c0001t0003g0016 a0001c0001t0003g0091 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0013g0159 a0001c0001t0017g0308 a0002c0002t0007g0112 a0002c0002t0007g0113 a0003c0005t0009g0247	56	392	0.1429	20	c.761 others(37): Show c.761-2509_761-2490dupGAAAGAAAGAAAGAAAGAAA	GDAP1L1	ENSG00000124194.17	transcript	ENST00000342560.10	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
GDAP1L1_chr20_44242308_44285947	44281669	T T	TACACACA others(13): Show TACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01943.hp2 HG01975.hp2 others(3): Show HG01346.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG02451.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0003g0004 others(1): Show a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0003g0004 a0001c0001t0003g0096	6	392	0.0153	20	c.23 others(31): Show c.2369_*2370insACACACACACACACACACAC	GDAP1L1	ENSG00000124194.17	transcript	ENST00000342560.10	protein_coding		723		chr20	TogoVar
GDA_chr9_72144440_72257224	72198846	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02257.hp1 HG03209.hp1 others(4): Show HG00741.hp1 HG02257.hp1 HG03209.hp1 HG04228.hp1 NA19088.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0003 a0004c0004t0003 a0001c0001t0001 a0001c0001t0003 a0004c0004t0003	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(4): Show a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0038 a0001c0001t0001g0246 a0001c0001t0003g0024 a0004c0004t0003g0275	7	312	0.0224	20	c.212 others(37): Show c.212+3273_212+3274insTATATATATATATATATATA	GDA	ENSG00000119125.17	transcript	ENST00000358399.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
GDE1_chr16_19496693_19527098	19512927	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0075 a0001c0001t0005g0075	1	398	0.0025	20	c.438 others(37): Show c.438-2003_438-1984dupCACACACACACACACACACA	GDE1	ENSG00000006007.12	transcript	ENST00000353258.8	protein_coding	2/5			chr16	TogoVar
GDF15_chr19_18381158_18394176	18387813	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02572.hp2 HG02630.hp1 others(2): Show HG02257.hp2 HG02572.hp2 HG02630.hp1 HG02809.hp2 HG03579.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0003c0003 a0004c0004 a0002c0002 a0003c0003 a0004c0004	a0002c0002t0001 a0003c0003t0001 a0004c0004t0001 a0002c0002t0001 a0003c0003t0001 a0004c0004t0001	a0002c0002t0001g0016 a0003c0003t0001g0016 a0004c0004t0001g0016 a0002c0002t0001g0016 a0003c0003t0001g0016 a0004c0004t0001g0016	5	424	0.0118	20	c.278 others(35): Show c.278-466_278-447dupTTTTTTTTTTTTTTTTTTTT	GDF15	ENSG00000130513.7	transcript	ENST00000252809.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr19	TogoVar
GDF1_chr19_18863545_18901158	18863713	A A	AGGGCTCT others(13): Show AGGGCTCTCCTAGGGGAGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00597.hp2 HG01168.hp2 others(21): Show HG00544.hp2 HG00597.hp2 HG01168.hp2 HG01884.hp2 HG02071.hp1 HG02165.hp1 HG02523.hp1 HG02630.hp1 HG02895.hp1 HG02897.hp2 HG03139.hp2 HG04199.hp1 NA18747.hp1 NA18940.hp2 NA18952.hp2 NA18955.hp1 NA18960.hp2 NA18979.hp1 NA18994.hp2 NA19005.hp1 NA19056.hp2 NA19079.hp1 NA19087.hp1 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0002 a0003c0003t0003 a0001c0001t0002 a0003c0003t0002 a0003c0003t0003	a0001c0001t0002g0238 a0001c0001t0002g0310 a0003c0003t0002g0006 others(16): Show a0001c0001t0002g0238 a0001c0001t0002g0310 a0003c0003t0002g0006 a0003c0003t0002g0008 a0003c0003t0002g0230 a0003c0003t0002g0243 a0003c0003t0002g0244 a0003c0003t0002g0245 a0003c0003t0002g0248 a0003c0003t0002g0249 a0003c0003t0002g0250 a0003c0003t0002g0251 a0003c0003t0002g0252 a0003c0003t0002g0253 a0003c0003t0002g0254 a0003c0003t0002g0260 a0003c0003t0002g0282 a0003c0003t0002g0283 a0003c0003t0003g0210	24	380	0.0632	20	c.48 others(31): Show c.4864_*4883dupACCCTCCCCTAGGAGAGCCC	GDF1	ENSG00000130283.9	transcript	ENST00000247005.8	protein_coding		4831		chr19	TogoVar
GDF3_chr12_7684784_7700775	7698933	T T	TAAATAAA others(13): Show TAAATAAATAAACAAACAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG02572.hp1 HG03130.hp1 others(1): Show HG01361.hp2 HG02572.hp1 HG03130.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0049 others(1): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0049 a0001c0001t0002g0150	4	468	0.0086	20	c.-32 others(31): Show c.-3206_-3205insGTTTGTTTGTTTATTTATTT	GDF3	ENSG00000184344.4	transcript	ENST00000329913.4	protein_coding		3159		chr12	TogoVar
GDF3_chr12_7684784_7700775	7698933	T T	TAAATAAA others(13): Show TAAATAAATAAATAAACAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01123.hp1 others(67): Show HG01069.hp1 HG01071.hp2 HG01123.hp1 HG01255.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02148.hp1 HG02155.hp2 HG02647.hp1 HG02698.hp2 HG02735.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03579.hp1 HG03710.hp1 HG03831.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18956.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp2 NA18964.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp2 NA18978.hp1 NA18982.hp1 NA18982.hp2 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18992.hp2 NA18994.hp2 NA18998.hp1 NA19006.hp2 NA19009.hp2 NA19010.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19066.hp2 NA19067.hp2 NA19070.hp2 NA19078.hp1 NA19081.hp1 NA19083.hp2 NA19084.hp2 NA19089.hp1 NA19240.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0007	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005 a0007c0006	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0005c0005t0001 a0007c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(25): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0049 a0001c0001t0001g0057 a0001c0001t0001g0075 a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0130 a0001c0001t0001g0137 a0001c0001t0001g0141 a0002c0002t0001g0052 a0002c0002t0001g0105 a0003c0003t0001g0028 a0003c0003t0001g0037 a0003c0003t0001g0079 a0003c0003t0001g0091 a0003c0003t0001g0098 a0005c0005t0001g0132 a0007c0006t0001g0122	70	468	0.1496	20	c.-32 others(31): Show c.-3206_-3205insGTTTGTTTATTTATTTATTT	GDF3	ENSG00000184344.4	transcript	ENST00000329913.4	protein_coding		3159		chr12	TogoVar

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