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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
DFFB_chr1_3852476_3890429	3855555	T T	TACTGGCA others(6): Show TACTGGCATTTAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0242 a0001c0001t0007g0242	1	404	0.0025	13	c.-20 others(24): Show c.-2049_-2048insACTGGCATTTAAG	DFFB	ENSG00000169598.17	transcript	ENST00000378209.8	protein_coding		1920		chr1	TogoVar
DGAT1_chr8_144309584_144331852	144313631	G G	GCCGCCCC others(6): Show GCCGCCCCGCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03540.hp1 HG03195.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0028 a0001c0008t0003 a0001c0001t0028 a0001c0008t0003	a0001c0001t0028g0037 a0001c0008t0003g0058 a0001c0001t0028g0037 a0001c0008t0003g0058	2	370	0.0054	13	c.29 others(24): Show c.2910_*2922dupGGAGGCGGGGCGG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		952		chr8	TogoVar
DGAT1_chr8_144309584_144331852	144313665	G G	GCCTCCCC others(6): Show GCCTCCCCGCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01891.hp1 HG02257.hp1 others(5): Show HG00639.hp2 HG01891.hp1 HG02257.hp1 HG02300.hp2 HG02886.hp1 NA19030.hp1 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0026 a0001c0001t0029 a0001c0001t0035	a0001c0001t0001g0006 a0001c0001t0003g0005 a0001c0001t0008g0038 others(3): Show a0001c0001t0001g0006 a0001c0001t0003g0005 a0001c0001t0008g0038 a0001c0001t0026g0035 a0001c0001t0029g0057 a0001c0001t0035g0091	8	370	0.0216	13	c.28 others(24): Show c.2888_*2889insGGAGGCGGGGAGG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		918		chr8	TogoVar
DGAT1_chr8_144309584_144331852	144313691	C C	CCCGCCTC others(6): Show CCCGCCTCCCCGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 NA19055.hp1 NA19079.hp1 HG03471.hp2 NA19055.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0027 a0001c0001t0008g0036 a0001c0001t0002g0027 a0001c0001t0008g0036	3	370	0.0081	13	c.28 others(24): Show c.2862_*2863insTGCGGGGAGGCGG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		892		chr8	TogoVar
DGAT1_chr8_144309584_144331852	144313691	C C	CCCGCCTC others(6): Show CCCGCCTCCCCGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	370	0.0027	13	c.28 others(24): Show c.2850_*2862dupCGCGGGGAGGCGG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		892		chr8	TogoVar
DGAT1_chr8_144309584_144331852	144313707	G G	GCCTCCCC others(6): Show GCCTCCCCGCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0020 a0001c0001t0013g0020	1	370	0.0027	13	c.28 others(24): Show c.2846_*2847insGGAGGCGGGGAGG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		876		chr8	TogoVar
DGAT1_chr8_144309584_144331852	144313788	G G	GCGCCGCC others(6): Show GCGCCGCCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 NA19030.hp1 HG01891.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0029 a0001c0001t0003 a0001c0001t0029	a0001c0001t0003g0005 a0001c0001t0029g0057 a0001c0001t0003g0005 a0001c0001t0029g0057	2	370	0.0054	13	c.27 others(24): Show c.2765_*2766insAGGCGGGGCGGCG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		795		chr8	TogoVar
DGCR2_chr22_19031286_19127412	19083692	C C	CCCCCCCT others(6): Show CCCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0165 a0002c0002t0002g0165	1	344	0.0029	13	c.202 others(30): Show c.202+5675_202+5676insAGGGGGAGGGGGG	DGCR2	ENSG00000070413.21	transcript	ENST00000263196.12	protein_coding	2/9			chr22	TogoVar
DGCR2_chr22_19031286_19127412	19083706	C C	CCCCCTCC others(6): Show CCCCCTCCCCCTCT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0156 a0002c0002t0002g0156	1	344	0.0029	13	c.202 others(30): Show c.202+5661_202+5662insAGAGGGGGAGGGG	DGCR2	ENSG00000070413.21	transcript	ENST00000263196.12	protein_coding	2/9			chr22	TogoVar
DGCR2_chr22_19031286_19127412	19083706	C C	CCCCTCCC others(6): Show CCCCTCCCCCCTCT	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0147 a0002c0002t0002g0147	1	344	0.0029	13	c.202 others(30): Show c.202+5661_202+5662insAGAGGGGGGAGGG	DGCR2	ENSG00000070413.21	transcript	ENST00000263196.12	protein_coding	2/9			chr22	TogoVar
DGCR2_chr22_19031286_19127412	19083706	C C	CCCCTCCC others(6): Show CCCCTCCCCCTCTT	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0146 a0002c0002t0017g0146	1	344	0.0029	13	c.202 others(30): Show c.202+5661_202+5662insAAGAGGGGGAGGG	DGCR2	ENSG00000070413.21	transcript	ENST00000263196.12	protein_coding	2/9			chr22	TogoVar
DGCR2_chr22_19031286_19127412	19122234	G G	GGCTGCGT others(6): Show GGCTGCGTGACCCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00558.hp2 others(91): Show HG00323.hp2 HG00408.hp2 HG00558.hp2 HG00597.hp2 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01169.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01433.hp2 HG01515.hp2 HG01517.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01993.hp2 HG02027.hp2 HG02056.hp2 HG02074.hp1 HG02083.hp1 HG02145.hp1 HG02148.hp2 HG02257.hp1 HG02258.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp2 HG02622.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02886.hp1 HG02896.hp2 HG03130.hp2 HG03139.hp2 HG03225.hp2 HG03490.hp1 HG03491.hp2 HG03540.hp1 HG03579.hp1 HG03688.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18950.hp1 NA18956.hp2 NA18957.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18971.hp2 NA18981.hp1 NA18982.hp1 NA18984.hp2 NA18985.hp2 NA18995.hp1 NA19004.hp1 NA19009.hp1 NA19012.hp1 NA19056.hp1 NA19060.hp2 NA19074.hp1 NA19079.hp2 NA19080.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0005 a0003c0003 a0002c0002 a0002c0005 a0003c0003	a0002c0002t0002 a0002c0002t0006 a0002c0002t0017 others(14): Show a0002c0002t0002 a0002c0002t0006 a0002c0002t0017 a0002c0002t0018 a0002c0002t0025 a0002c0002t0041 a0002c0002t0042 a0002c0005t0020 a0002c0005t0043 a0002c0005t0044 a0002c0005t0045 a0003c0003t0007 a0003c0003t0008 a0003c0003t0012 a0003c0003t0026 a0003c0003t0027 a0003c0003t0028	a0002c0002t0002g0006 a0002c0002t0002g0133 a0002c0002t0002g0134 others(88): Show a0002c0002t0002g0006 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0141 a0002c0002t0002g0142 a0002c0002t0002g0143 a0002c0002t0002g0144 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0151 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0159 a0002c0002t0002g0161 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0177 a0002c0002t0002g0183 a0002c0002t0002g0190 a0002c0002t0006g0001 a0002c0002t0006g0179 a0002c0002t0006g0181 a0002c0002t0006g0184 a0002c0002t0006g0185 a0002c0002t0006g0186 a0002c0002t0006g0187 a0002c0002t0006g0188 a0002c0002t0006g0189 a0002c0002t0017g0146 a0002c0002t0017g0160 a0002c0002t0017g0178 a0002c0002t0017g0180 a0002c0002t0018g0140 a0002c0002t0018g0150 a0002c0002t0018g0158 a0002c0002t0018g0182 a0002c0002t0025g0145 a0002c0002t0025g0171 a0002c0002t0041g0166 a0002c0002t0042g0152 a0002c0005t0020g0135 a0002c0005t0020g0136 a0002c0005t0020g0191 a0002c0005t0043g0138 a0002c0005t0044g0137 a0002c0005t0045g0139 a0003c0003t0007g0012 a0003c0003t0007g0015 a0003c0003t0007g0020 a0003c0003t0007g0026 a0003c0003t0007g0027 a0003c0003t0007g0028 a0003c0003t0007g0033 a0003c0003t0007g0034 a0003c0003t0007g0036 a0003c0003t0007g0037 a0003c0003t0008g0010 a0003c0003t0008g0011 a0003c0003t0008g0019 a0003c0003t0008g0021 a0003c0003t0008g0023 a0003c0003t0008g0024 a0003c0003t0008g0030 a0003c0003t0008g0031 a0003c0003t0008g0032 a0003c0003t0008g0038 a0003c0003t0012g0013 a0003c0003t0012g0014 a0003c0003t0012g0016 a0003c0003t0012g0017 a0003c0003t0012g0018 a0003c0003t0012g0025 a0003c0003t0012g0029 a0003c0003t0026g0009 a0003c0003t0027g0035 a0003c0003t0028g0022	94	344	0.2733	13	c.-29 others(20): Show c.-29_-28insGGGGTCACGCAGC	DGCR2	ENSG00000070413.21	transcript	ENST00000263196.12	protein_coding	1/10	29		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322386	A A	ACACACAC others(6): Show ACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG00423.hp1 HG00597.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0004 a0002c0003t0002g0004	2	392	0.0051	13	c.-23 others(24): Show c.-2399_-2398insGTGTGTGTGTGTG	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2327		chr22	TogoVar
DGCR8_chr22_20075241_20116872	20077152	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 NA18962.hp2 NA18989.hp2 HG02015.hp2 NA18962.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0002 a0001c0001t0007g0018 a0001c0001t0007g0091 a0001c0001t0001g0002 a0001c0001t0007g0018 a0001c0001t0007g0091	3	419	0.0072	13	c.-35 others(24): Show c.-3509_-3508insTTTTTTTTTTTTT	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding		3088		chr22	TogoVar
DGCR8_chr22_20075241_20116872	20111706	G G	GCCCCCCC others(6): Show GCCCCCCCCCCCCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0027 a0001c0001t0076g0027	1	419	0.0024	13	c.16 others(24): Show c.1602_*1614dupCCCCCCCCCCCCC	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding	14/14	1615	INFO_REALIGN_3_PRIME	chr22	TogoVar
DGCR8_chr22_20075241_20116872	20115951	G G	GAGAGCAG others(6): Show GAGAGCAGATAATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	419	0.0024	13	c.58 others(24): Show c.5843_*5844insAGAGCAGATAATT	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding		4080		chr22	TogoVar
DGKB_chr7_14140049_14907751	14203161	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0086 a0001c0003t0015g0086	1	148	0.0068	13	c.212 others(34): Show c.2123-25023_2123-25011dupTTTTTTTTTTTTT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14351070	C C	CTTGAAGC others(6): Show CTTGAAGCATAGCA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp1 HG00621.hp1 others(111): Show HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01515.hp1 HG01515.hp2 HG01952.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03831.hp1 HG03942.hp2 HG04115.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18951.hp1 NA18951.hp2 NA18960.hp1 NA18984.hp1 NA18984.hp2 NA18993.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19081.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0009 a0001c0012 a0001c0013 a0001c0014 a0001c0015 a0001c0017 a0002c0005 a0002c0007 a0003c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(57): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 a0001c0001t0021 a0001c0001t0023 a0001c0001t0025 a0001c0001t0041 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0009 a0001c0002t0012 a0001c0002t0013 a0001c0002t0022 a0001c0002t0029 a0001c0002t0030 a0001c0002t0031 a0001c0002t0034 a0001c0002t0038 a0001c0002t0040 a0001c0002t0042 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0008 a0001c0003t0009 a0001c0003t0010 a0001c0003t0013 a0001c0003t0014 a0001c0003t0015 a0001c0003t0018 a0001c0003t0035 a0001c0003t0036 a0001c0003t0037 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0005 a0001c0004t0026 a0001c0004t0027 a0001c0006t0004 a0001c0006t0008 a0001c0006t0019 a0001c0008t0003 a0001c0009t0002 a0001c0009t0009 a0001c0012t0003 a0001c0013t0017 a0001c0014t0001 a0001c0015t0032 a0001c0017t0024 a0002c0005t0011 a0002c0007t0006 a0003c0010t0033	a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0044 others(111): Show a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0044 a0001c0001t0001g0091 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0134 a0001c0001t0002g0025 a0001c0001t0002g0048 a0001c0001t0002g0111 a0001c0001t0002g0119 a0001c0001t0003g0051 a0001c0001t0004g0142 a0001c0001t0007g0037 a0001c0001t0007g0121 a0001c0001t0008g0123 a0001c0001t0016g0042 a0001c0001t0021g0029 a0001c0001t0023g0122 a0001c0001t0025g0021 a0001c0001t0041g0147 a0001c0002t0001g0017 a0001c0002t0001g0033 a0001c0002t0001g0052 a0001c0002t0001g0070 a0001c0002t0001g0090 a0001c0002t0002g0020 a0001c0002t0002g0065 a0001c0002t0002g0074 a0001c0002t0002g0102 a0001c0002t0002g0107 a0001c0002t0002g0128 a0001c0002t0003g0001 a0001c0002t0003g0003 a0001c0002t0003g0010 a0001c0002t0003g0027 a0001c0002t0003g0055 a0001c0002t0003g0058 a0001c0002t0003g0069 a0001c0002t0003g0072 a0001c0002t0003g0081 a0001c0002t0003g0135 a0001c0002t0009g0064 a0001c0002t0012g0046 a0001c0002t0013g0104 a0001c0002t0022g0013 a0001c0002t0029g0002 a0001c0002t0030g0092 a0001c0002t0031g0008 a0001c0002t0034g0014 a0001c0002t0038g0093 a0001c0002t0040g0068 a0001c0002t0042g0148 a0001c0003t0001g0006 a0001c0003t0001g0054 a0001c0003t0001g0087 a0001c0003t0001g0136 a0001c0003t0002g0028 a0001c0003t0002g0063 a0001c0003t0003g0056 a0001c0003t0003g0094 a0001c0003t0004g0009 a0001c0003t0004g0012 a0001c0003t0004g0083 a0001c0003t0005g0016 a0001c0003t0005g0057 a0001c0003t0005g0073 a0001c0003t0005g0124 a0001c0003t0005g0130 a0001c0003t0008g0011 a0001c0003t0009g0004 a0001c0003t0010g0089 a0001c0003t0013g0066 a0001c0003t0014g0075 a0001c0003t0014g0076 a0001c0003t0015g0086 a0001c0003t0018g0061 a0001c0003t0035g0126 a0001c0003t0036g0050 a0001c0003t0037g0005 a0001c0004t0001g0032 a0001c0004t0001g0035 a0001c0004t0001g0040 a0001c0004t0001g0071 a0001c0004t0001g0085 a0001c0004t0001g0103 a0001c0004t0001g0108 a0001c0004t0001g0114 a0001c0004t0001g0127 a0001c0004t0002g0112 a0001c0004t0002g0115 a0001c0004t0002g0131 a0001c0004t0002g0133 a0001c0004t0003g0049 a0001c0004t0003g0067 a0001c0004t0005g0023 a0001c0004t0026g0138 a0001c0004t0027g0059 a0001c0006t0004g0145 a0001c0006t0008g0080 a0001c0006t0019g0144 a0001c0008t0003g0077 a0001c0008t0003g0078 a0001c0009t0002g0082 a0001c0009t0009g0125 a0001c0012t0003g0015 a0001c0013t0017g0084 a0001c0014t0001g0018 a0001c0015t0032g0019 a0001c0017t0024g0146 a0002c0005t0011g0062 a0002c0005t0011g0079 a0002c0007t0006g0030 a0003c0010t0033g0007	114	148	0.7703	13	c.183 others(32): Show c.1836-5680_1836-5679insTGCTATGCTTCAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	21/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14689199	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02055.hp1 HG02071.hp1 others(6): Show HG01167.hp1 HG02055.hp1 HG02071.hp1 HG02109.hp1 HG02135.hp1 HG02965.hp1 HG03942.hp1 NA18968.hp2 NA19002.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0007 a0001c0001 a0001c0004 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0020 a0001c0001t0039 a0001c0004t0001 a0001c0004t0005 a0002c0007t0006	a0001c0001t0001g0047 a0001c0001t0001g0105 a0001c0001t0002g0143 others(6): Show a0001c0001t0001g0047 a0001c0001t0001g0105 a0001c0001t0002g0143 a0001c0001t0003g0051 a0001c0001t0020g0097 a0001c0001t0039g0022 a0001c0004t0001g0085 a0001c0004t0005g0023 a0002c0007t0006g0041	9	148	0.0608	13	c.712 others(30): Show c.712-3850_712-3838dupAAAAAAAAAAAAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	9/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14729126	T T	TCTTTTTT others(6): Show TCTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03225.hp2 HG02965.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0003 a0001c0006t0008 a0001c0002t0003 a0001c0006t0008	a0001c0002t0003g0055 a0001c0006t0008g0080 a0001c0002t0003g0055 a0001c0006t0008g0080	2	148	0.0135	13	c.322 others(30): Show c.322+6914_322+6915insGAAAAAAAAAAAG	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	5/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14758928	G G	GATAGATA others(6): Show GATAGATAGATAAC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02970.hp1 HG03471.hp2 HG02922.hp1 HG02970.hp1 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0003 a0001c0002t0034 a0001c0006t0019 a0001c0002t0003 a0001c0002t0034 a0001c0006t0019	a0001c0002t0003g0135 a0001c0002t0034g0014 a0001c0006t0019g0144 a0001c0002t0003g0135 a0001c0002t0034g0014 a0001c0006t0019g0144	3	148	0.0203	13	c.71- others(28): Show c.71-1198_71-1197insGTTATCTATCTAT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	2/25			chr7	TogoVar
DGKE_chr17_56829151_56874567	56872549	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG04184.hp2 NA18522.hp2 HG02258.hp2 HG04184.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0018 a0001c0003t0002 a0001c0002t0018 a0001c0003t0002	a0001c0002t0018g0117 a0001c0003t0002g0037 a0001c0003t0002g0132 a0001c0002t0018g0117 a0001c0003t0002g0037 a0001c0003t0002g0132	3	324	0.0093	13	c.97 others(24): Show c.9758_*9759insAAAAAAAAAAAAA	DGKE	ENSG00000153933.10	transcript	ENST00000284061.8	protein_coding		2983		chr17	TogoVar
DGKG_chr3_186142201_186367234	186194803	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA18522.hp1 HG02109.hp2 NA18522.hp1	a0002 a0003 a0002 a0003	a0002c0001 a0003c0004 a0002c0001 a0003c0004	a0002c0001t0007 a0003c0004t0007 a0002c0001t0007 a0003c0004t0007	a0002c0001t0007g0064 a0003c0004t0007g0009 a0002c0001t0007g0064 a0003c0004t0007g0009	2	234	0.0086	13	c.191 others(32): Show c.1918-6437_1918-6425dupTTTTTTTTTTTTT	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	21/24			chr3	TogoVar
DGKG_chr3_186142201_186367234	186209093	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03579.hp1 HG03139.hp2 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0008 a0001c0003t0003 a0001c0002t0008 a0001c0003t0003	a0001c0002t0008g0163 a0001c0003t0003g0179 a0001c0002t0008g0163 a0001c0003t0003g0179	2	234	0.0086	13	c.191 others(32): Show c.1917+2689_1917+2701dupAAAAAAAAAAAAA	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	21/24			chr3	TogoVar
DGKG_chr3_186142201_186367234	186250557	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02559.hp1 HG02572.hp1 others(3): Show HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02735.hp2 HG03490.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0025 a0001c0002t0038 a0001c0002t0043 others(3): Show a0001c0002t0025 a0001c0002t0038 a0001c0002t0043 a0001c0003t0003 a0001c0003t0045 a0002c0001t0002	a0001c0002t0025g0116 a0001c0002t0038g0234 a0001c0002t0043g0183 others(3): Show a0001c0002t0025g0116 a0001c0002t0038g0234 a0001c0002t0043g0183 a0001c0003t0003g0168 a0001c0003t0045g0231 a0002c0001t0002g0080	6	234	0.0256	13	c.176 others(32): Show c.1761+1201_1761+1202insAAAAAAAAAAAAA	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	19/24			chr3	TogoVar
DGKG_chr3_186142201_186367234	186299840	T T	TCTTTCTT others(6): Show TCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0066 a0002c0005t0004g0066	1	234	0.0043	13	c.145 others(30): Show c.145-1612_145-1611insGAAAGAAAGAAAG	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	3/24			chr3	TogoVar
DGKG_chr3_186142201_186367234	186310265	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02559.hp2 HG02622.hp1 others(1): Show HG02280.hp1 HG02559.hp2 HG02622.hp1 HG03195.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0003 a0001c0002t0015 a0001c0003t0014 others(1): Show a0001c0002t0003 a0001c0002t0015 a0001c0003t0014 a0002c0001t0003	a0001c0002t0003g0165 a0001c0002t0015g0071 a0001c0003t0014g0205 others(1): Show a0001c0002t0003g0165 a0001c0002t0015g0071 a0001c0003t0014g0205 a0002c0001t0003g0226	4	234	0.0171	13	c.68- others(28): Show c.68-3301_68-3289dupTTTTTTTTTTTTT	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	2/24			chr3	TogoVar
DGKH_chr13_42043648_42247896	42061988	G G	GTGTGTGT others(6): Show GTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01934.hp1 HG04228.hp1 HG01168.hp1 HG01934.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0023 a0001c0002t0001 a0001c0004t0027 a0001c0001t0023 a0001c0002t0001 a0001c0004t0027	a0001c0001t0023g0067 a0001c0002t0001g0155 a0001c0004t0027g0156 a0001c0001t0023g0067 a0001c0002t0001g0155 a0001c0004t0027g0156	3	316	0.0095	13	c.192 others(32): Show c.192+13023_192+13024insTGTGTGTGTGTGT	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	1/29			chr13	TogoVar
DGKH_chr13_42043648_42247896	42159244	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18961.hp1 NA18961.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0007 a0002c0005t0007	a0002c0005t0007g0258 a0002c0005t0007g0258	1	316	0.0032	13	c.623 others(25): Show c.623-15_623-3dupTTTTTTTTTTTTT	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKH_chr13_42043648_42247896	42207026	T T	TCTTTCTT others(6): Show TCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0019 a0001c0002t0002g0019	1	316	0.0032	13	c.260 others(30): Show c.2601+880_2601+881insCTTTCTTTCTTTC	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	21/29			chr13	TogoVar
DGKI_chr7_137376037_137851974	137517279	A A	AGAAAGAA others(6): Show AGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0027 a0001c0015t0027	a0001c0015t0027g0033 a0001c0015t0027g0033	1	94	0.0106	13	c.224 others(32): Show c.2248+4586_2248+4587insCTTTCTTTCTTTC	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	21/32			chr7	TogoVar
DGKI_chr7_137376037_137851974	137624882	A A	ATAGGCTC others(6): Show ATAGGCTCCCAAAG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0038 a0001c0001t0032g0038	1	94	0.0106	13	c.805 others(30): Show c.805-1329_805-1328insCTTTGGGAGCCTA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	6/32			chr7	TogoVar
DGKI_chr7_137376037_137851974	137672766	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0009 a0001c0002t0021g0009	1	94	0.0106	13	c.606 others(30): Show c.606+5778_606+5790dupAAAAAAAAAAAAA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	3/32			chr7	TogoVar
DGKI_chr7_137376037_137851974	137691798	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02630.hp1 HG03654.hp1 others(2): Show HG02145.hp1 HG02630.hp1 HG03654.hp1 HG03654.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 others(2): Show a0001c0001 a0001c0003 a0001c0006 a0001c0009 a0001c0021	a0001c0001t0032 a0001c0003t0030 a0001c0006t0009 others(2): Show a0001c0001t0032 a0001c0003t0030 a0001c0006t0009 a0001c0009t0010 a0001c0021t0002	a0001c0001t0032g0038 a0001c0003t0030g0057 a0001c0006t0009g0064 others(2): Show a0001c0001t0032g0038 a0001c0003t0030g0057 a0001c0006t0009g0064 a0001c0009t0010g0079 a0001c0021t0002g0059	5	94	0.0532	13	c.402 others(30): Show c.402-1809_402-1797dupAAAAAAAAAAAAA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	1/32			chr7	TogoVar
DGKI_chr7_137376037_137851974	137846134	T T	TCTCTCTC others(6): Show TCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0010 a0001c0001t0007g0010	1	94	0.0106	13	c.401 others(28): Show c.401+327_401+328insGAGAGAGAGAGAG	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	1/32			chr7	TogoVar
DGKK_chrX_50360409_50475825	50447328	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	248	0.0040	13	c.645 others(32): Show c.645+22693_645+22705dupATATATATATATA	DGKK	ENSG00000274588.2	transcript	ENST00000611977.2	protein_coding	1/27			chrX	TogoVar
DGLUCY_chr14_91109073_91230632	91202058	A A	ATAATAAT others(6): Show ATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0087 a0002c0002t0001g0087	1	216	0.0046	13	c.144 others(32): Show c.1444+2153_1444+2154insTAATAATAATAAT	DGLUCY	ENSG00000133943.21	transcript	ENST00000256324.15	protein_coding	11/13			chr14	TogoVar
DHCR24_chr1_54844627_54892195	54878514	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00642.hp2 HG02027.hp2 others(4): Show HG00423.hp1 HG00642.hp2 HG02027.hp2 HG02074.hp2 HG02132.hp1 HG02293.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 a0001c0001t0001 a0001c0001t0003 a0001c0002t0003	a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0263 others(4): Show a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0263 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0003g0273 a0001c0002t0003g0269	7	386	0.0181	13	c.388 others(30): Show c.388-2480_388-2468dupTTTTTTTTTTTTT	DHCR24	ENSG00000116133.13	transcript	ENST00000371269.9	protein_coding	2/8			chr1	TogoVar
DHFR_chr5_80621226_80659983	80658037	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00597.hp2 HG00642.hp2 others(80): Show HG00438.hp2 HG00597.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01099.hp2 HG01175.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp2 HG01433.hp1 HG01515.hp2 HG01517.hp1 HG01891.hp2 HG02027.hp2 HG02055.hp2 HG02071.hp2 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02293.hp1 HG02451.hp2 HG02486.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03453.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp2 NA18951.hp2 NA18963.hp1 NA18970.hp1 NA18974.hp2 NA18990.hp1 NA18992.hp2 NA19000.hp2 NA19030.hp1 NA19043.hp2 NA19075.hp1 NA19086.hp2 NA19087.hp2 NA19240.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(18): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0032 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0016 others(65): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0041 a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0001g0130 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0028 a0001c0001t0004g0029 a0001c0001t0004g0030 a0001c0001t0004g0089 a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0001t0004g0093 a0001c0001t0004g0094 a0001c0001t0004g0095 a0001c0001t0004g0097 a0001c0001t0004g0098 a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0004g0101 a0001c0001t0004g0102 a0001c0001t0004g0103 a0001c0001t0007g0013 a0001c0001t0007g0026 a0001c0001t0007g0077 a0001c0001t0007g0078 a0001c0001t0007g0079 a0001c0001t0007g0080 a0001c0001t0007g0081 a0001c0001t0007g0082 a0001c0001t0007g0083 a0001c0001t0007g0087 a0001c0001t0007g0088 a0001c0001t0010g0006 a0001c0001t0010g0076 a0001c0001t0012g0057 a0001c0001t0012g0059 a0001c0001t0012g0060 a0001c0001t0017g0043 a0001c0001t0017g0159 a0001c0001t0018g0044 a0001c0001t0021g0105 a0001c0001t0021g0107 a0001c0001t0022g0074 a0001c0001t0022g0096 a0001c0001t0023g0027 a0001c0001t0024g0075 a0001c0001t0024g0090 a0001c0001t0026g0164 a0001c0001t0032g0062 a0001c0001t0037g0069 a0001c0001t0038g0106 a0001c0001t0039g0104 a0001c0001t0043g0156 a0001c0001t0044g0157 a0001c0001t0045g0158 a0001c0001t0046g0160 a0001c0001t0047g0161	83	376	0.2207	13	c.-35 others(24): Show c.-3561_-3549dupAAAAAAAAAAAAA	DHFR	ENSG00000228716.7	transcript	ENST00000439211.7	protein_coding		3055		chr5	TogoVar
DHODH_chr16_72003744_72032659	72017770	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01433.hp1 HG02738.hp1 others(1): Show HG01255.hp2 HG01433.hp1 HG02738.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0024 a0002c0002t0026 a0002c0002t0051 a0002c0002t0024 a0002c0002t0026 a0002c0002t0051	a0002c0002t0024g0127 a0002c0002t0026g0128 a0002c0002t0026g0129 others(1): Show a0002c0002t0024g0127 a0002c0002t0026g0128 a0002c0002t0026g0129 a0002c0002t0051g0059	4	414	0.0097	13	c.517 others(28): Show c.517+670_517+682dupTTTTTTTTTTTTT	DHODH	ENSG00000102967.12	transcript	ENST00000219240.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
DHRS12_chr13_51762993_51809163	51767781	C C	CGGGGGGG others(6): Show CGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0243 a0003c0003t0005g0243	1	420	0.0024	13	c.40 others(22): Show c.405_*406insCCCCCCCCCCCCC	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding		211		chr13	TogoVar
DHRS12_chr13_51762993_51809163	51776017	T T	TGTATTCT others(6): Show TGTATTCTCCTACA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02965.hp2 HG03139.hp2 others(2): Show HG02818.hp1 HG02965.hp2 HG03139.hp2 HG03225.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 others(2): Show a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134	5	420	0.0119	13	c.363 others(30): Show c.363+1030_363+1042dupTGTAGGAGAATAC	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS12_chr13_51762993_51809163	51776141	T T	TGTATTCT others(6): Show TGTATTCTCCTACA	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	420	0.0024	13	c.363 others(28): Show c.363+906_363+918dupTGTAGGAGAATAC	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS7B_chr17_21121964_21196420	21164030	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02896.hp2 HG03017.hp2 others(1): Show HG01891.hp1 HG02896.hp2 HG03017.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0265 a0001c0001t0001g0292 others(1): Show a0001c0001t0001g0239 a0001c0001t0001g0265 a0001c0001t0001g0292 a0001c0001t0001g0315	4	382	0.0105	13	c.21- others(28): Show c.21-7984_21-7972dupTTTTTTTTTTTTT	DHRS7B	ENSG00000109016.18	transcript	ENST00000395511.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
DHRS7_chr14_60139119_60170398	60163208	T T	TTAATAAG others(6): Show TTAATAAGCATATG	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	388	0.0026	13	c.133 others(30): Show c.133+1956_133+1968dupCATATGCTTATTA	DHRS7	ENSG00000100612.14	transcript	ENST00000557185.6	protein_coding	1/6			chr14	TogoVar
DHRS7_chr14_60139119_60170398	60169133	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	388	0.0026	13	c.-38 others(24): Show c.-3837_-3825dupTTTTTTTTTTTTT	DHRS7	ENSG00000100612.14	transcript	ENST00000557185.6	protein_coding		3736		chr14	TogoVar
DHRS7_chr14_60139119_60170398	60169152	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	388	0.0026	13	c.-38 others(24): Show c.-3844_-3843insGTTTTTTTTTTTT	DHRS7	ENSG00000100612.14	transcript	ENST00000557185.6	protein_coding		3755		chr14	TogoVar
DHRS7_chr14_60139119_60170398	60169157	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 NA18942.hp1 NA18990.hp2 others(1): Show HG02572.hp1 NA18942.hp1 NA18990.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0114 a0001c0001t0002g0120 others(1): Show a0001c0001t0002g0003 a0001c0001t0002g0114 a0001c0001t0002g0120 a0001c0001t0002g0123	4	388	0.0103	13	c.-38 others(24): Show c.-3849_-3848insGTTTTTTTTTTTT	DHRS7	ENSG00000100612.14	transcript	ENST00000557185.6	protein_coding		3760		chr14	TogoVar
DHRSX_chrX_2214506_2505976	2228475	A A	AGGGAGGG others(6): Show AGGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0030 a0004c0004t0005g0030	1	50	0.0200	13	c.805 others(30): Show c.805-7247_805-7246insCTCCCTCCCTCCC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2243788	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA19066.hp1 NA18960.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0038 a0001c0001t0001g0044	2	50	0.0400	13	c.597 others(28): Show c.597-571_597-559dupAAAAAAAAAAAAA	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	5/6			chrX	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)