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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Select column to sort.

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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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
DGKH_chr13_42043648_42247896	42159244	CT CT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01981.hp2 HG02056.hp1 HG02074.hp2 others(28): Show HG01981.hp2 HG02056.hp1 HG02074.hp2 HG02083.hp1 HG02129.hp2 HG02293.hp2 HG02486.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02738.hp1 HG02895.hp2 HG03017.hp1 HG03098.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03942.hp2 HG04115.hp2 NA18906.hp2 NA18947.hp1 NA18957.hp2 NA18964.hp1 NA18981.hp1 NA18991.hp1 NA18994.hp2 NA19043.hp1 NA19054.hp2 NA19058.hp2 NA19062.hp2	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0010 a0013	a0001c0002 a0001c0004 a0001c0010 others(5): Show a0001c0002 a0001c0004 a0001c0010 a0001c0016 a0003c0014 a0005c0012 a0010c0029 a0013c0015	a0001c0002t0003 a0001c0002t0042 a0001c0002t0076 others(20): Show a0001c0002t0003 a0001c0002t0042 a0001c0002t0076 a0001c0002t0086 a0001c0002t0102 a0001c0004t0004 a0001c0004t0011 a0001c0004t0014 a0001c0004t0020 a0001c0004t0028 a0001c0004t0051 a0001c0004t0053 a0001c0004t0054 a0001c0010t0004 a0001c0010t0050 a0001c0010t0056 a0001c0010t0057 a0001c0016t0011 a0003c0014t0035 a0005c0012t0077 a0005c0012t0078 a0010c0029t0058 a0013c0015t0040	a0001c0002t0003g0150 a0001c0002t0042g0021 a0001c0002t0076g0218 others(28): Show a0001c0002t0003g0150 a0001c0002t0042g0021 a0001c0002t0076g0218 a0001c0002t0086g0205 a0001c0002t0102g0190 a0001c0004t0004g0010 a0001c0004t0011g0090 a0001c0004t0011g0142 a0001c0004t0011g0143 a0001c0004t0011g0187 a0001c0004t0014g0069 a0001c0004t0014g0071 a0001c0004t0014g0157 a0001c0004t0020g0276 a0001c0004t0020g0288 a0001c0004t0028g0074 a0001c0004t0028g0287 a0001c0004t0051g0239 a0001c0004t0053g0259 a0001c0004t0054g0172 a0001c0010t0004g0300 a0001c0010t0050g0301 a0001c0010t0056g0173 a0001c0010t0057g0273 a0001c0016t0011g0188 a0003c0014t0035g0254 a0003c0014t0035g0255 a0005c0012t0077g0092 a0005c0012t0078g0091 a0010c0029t0058g0298 a0013c0015t0040g0005	31	316	0.0981	-1	c.623 others(6): Show c.623-3delT		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	5/29				INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKH_chr13_42043648_42247896	42174053	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01169.hp2 NA20905.hp2 HG01169.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0139 a0001c0001t0002g0083 a0001c0001t0002g0139	2	316	0.0063	0	c.136 others(6): Show c.1368-7C>T		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	11/29					chr13	TogoVar
DGKH_chr13_42043648_42247896	42198594	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00544.hp2 HG02056.hp2 NA18983.hp2 others(2): Show HG00544.hp2 HG02056.hp2 NA18983.hp2 NA19057.hp1 NA19060.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0004 a0004c0009t0008 a0004c0009t0022 others(1): Show a0004c0009t0004 a0004c0009t0008 a0004c0009t0022 a0004c0009t0107	a0004c0009t0004g0194 a0004c0009t0008g0066 a0004c0009t0008g0294 others(2): Show a0004c0009t0004g0194 a0004c0009t0008g0066 a0004c0009t0008g0294 a0004c0009t0022g0025 a0004c0009t0107g0193	5	316	0.0158	0	c.228 others(4): Show c.2284G>A	p.Val others(6): Show p.Val762Ile	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	18/30	2410/17497	2284/3663	762/1220		chr13	TogoVar
DGKI_chr7_137376037_137851974	137395697	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0002 a0001c0021t0002	a0001c0021t0002g0059 a0001c0021t0002g0059	1	94	0.0106	0	c.295 others(4): Show c.2958G>A	p.Thr others(6): Show p.Thr986Thr	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	32/33	3070/13469	2958/3174	986/1057		chr7	TogoVar
DGKI_chr7_137376037_137851974	137407999	CA CA	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00642.hp2 HG01099.hp1 HG01243.hp1 others(62): Show HG00642.hp2 HG01099.hp1 HG01243.hp1 HG01243.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18979.hp1 NA18979.hp2 NA18992.hp1 NA18992.hp2 NA19030.hp2 NA19043.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(17): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0013 a0001c0014 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0001c0019 a0001c0023 a0002c0020	a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 others(50): Show a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0014 a0001c0002t0021 a0001c0002t0025 a0001c0002t0028 a0001c0002t0033 a0001c0002t0034 a0001c0003t0004 a0001c0003t0005 a0001c0003t0030 a0001c0003t0035 a0001c0003t0037 a0001c0004t0003 a0001c0004t0010 a0001c0004t0011 a0001c0004t0038 a0001c0004t0047 a0001c0005t0002 a0001c0005t0004 a0001c0005t0026 a0001c0005t0029 a0001c0005t0031 a0001c0006t0002 a0001c0006t0008 a0001c0006t0009 a0001c0006t0013 a0001c0007t0003 a0001c0007t0005 a0001c0007t0042 a0001c0008t0011 a0001c0008t0020 a0001c0008t0022 a0001c0009t0010 a0001c0009t0040 a0001c0009t0043 a0001c0009t0050 a0001c0010t0001 a0001c0010t0012 a0001c0011t0001 a0001c0013t0039 a0001c0014t0004 a0001c0014t0007 a0001c0015t0024 a0001c0015t0027 a0001c0016t0044 a0001c0017t0049 a0001c0018t0005 a0001c0019t0005 a0001c0023t0009 a0002c0020t0001	a0001c0001t0004g0037 a0001c0002t0001g0018 a0001c0002t0002g0027 others(62): Show a0001c0001t0004g0037 a0001c0002t0001g0018 a0001c0002t0002g0027 a0001c0002t0003g0092 a0001c0002t0014g0020 a0001c0002t0014g0035 a0001c0002t0021g0009 a0001c0002t0025g0021 a0001c0002t0028g0039 a0001c0002t0033g0008 a0001c0002t0034g0011 a0001c0003t0004g0023 a0001c0003t0005g0091 a0001c0003t0030g0057 a0001c0003t0035g0028 a0001c0003t0037g0036 a0001c0004t0003g0076 a0001c0004t0003g0077 a0001c0004t0010g0087 a0001c0004t0011g0071 a0001c0004t0011g0085 a0001c0004t0038g0069 a0001c0004t0047g0067 a0001c0005t0002g0056 a0001c0005t0004g0045 a0001c0005t0004g0058 a0001c0005t0026g0025 a0001c0005t0029g0062 a0001c0005t0031g0060 a0001c0006t0002g0015 a0001c0006t0008g0030 a0001c0006t0008g0043 a0001c0006t0008g0044 a0001c0006t0009g0064 a0001c0006t0013g0007 a0001c0006t0013g0012 a0001c0007t0003g0070 a0001c0007t0003g0088 a0001c0007t0005g0066 a0001c0007t0042g0078 a0001c0008t0011g0093 a0001c0008t0020g0048 a0001c0008t0022g0026 a0001c0009t0010g0072 a0001c0009t0010g0079 a0001c0009t0040g0086 a0001c0009t0043g0082 a0001c0009t0050g0080 a0001c0010t0001g0006 a0001c0010t0012g0047 a0001c0010t0012g0053 a0001c0011t0001g0002 a0001c0011t0001g0031 a0001c0011t0001g0040 a0001c0013t0039g0068 a0001c0014t0004g0029 a0001c0014t0007g0016 a0001c0015t0024g0063 a0001c0015t0027g0033 a0001c0016t0044g0074 a0001c0017t0049g0083 a0001c0018t0005g0065 a0001c0019t0005g0090 a0001c0023t0009g0024 a0002c0020t0001g0017	65	94	0.6915	-1	c.280 others(7): Show c.2800-5delT		DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	29/32					chr7	TogoVar
DGKI_chr7_137376037_137851974	137466040	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp1 HG02055.hp2 HG02109.hp1 others(22): Show HG01884.hp1 HG02055.hp2 HG02109.hp1 HG02486.hp1 HG02630.hp1 HG02630.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03540.hp1 NA18522.hp2 NA18906.hp2 NA19030.hp1 NA19043.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0001c0009 a0001c0010 others(6): Show a0001c0006 a0001c0009 a0001c0010 a0001c0011 a0001c0016 a0001c0017 a0001c0019 a0001c0023 a0002c0020	a0001c0006t0002 a0001c0006t0008 a0001c0006t0009 others(15): Show a0001c0006t0002 a0001c0006t0008 a0001c0006t0009 a0001c0006t0013 a0001c0009t0010 a0001c0009t0040 a0001c0009t0043 a0001c0009t0050 a0001c0010t0001 a0001c0010t0009 a0001c0010t0012 a0001c0010t0016 a0001c0011t0001 a0001c0016t0044 a0001c0017t0049 a0001c0019t0005 a0001c0023t0009 a0002c0020t0001	a0001c0006t0002g0015 a0001c0006t0008g0030 a0001c0006t0008g0043 others(22): Show a0001c0006t0002g0015 a0001c0006t0008g0030 a0001c0006t0008g0043 a0001c0006t0008g0044 a0001c0006t0009g0064 a0001c0006t0013g0007 a0001c0006t0013g0012 a0001c0009t0010g0072 a0001c0009t0010g0079 a0001c0009t0040g0086 a0001c0009t0043g0082 a0001c0009t0050g0080 a0001c0010t0001g0006 a0001c0010t0009g0032 a0001c0010t0012g0047 a0001c0010t0012g0053 a0001c0010t0016g0052 a0001c0011t0001g0002 a0001c0011t0001g0031 a0001c0011t0001g0040 a0001c0016t0044g0074 a0001c0017t0049g0083 a0001c0019t0005g0090 a0001c0023t0009g0024 a0002c0020t0001g0017	25	94	0.2660	0	c.248 others(6): Show c.2485-5T>C		DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	25/32					chr7	TogoVar
DGKI_chr7_137376037_137851974	137619817	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0031 a0001c0011t0001g0031	1	94	0.0106	0	c.993 others(5): Show c.993+7G>T		DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	8/32					chr7	TogoVar
DGKI_chr7_137376037_137851974	137846454	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0002 a0001c0011t0001g0002	1	94	0.0106	0	c.401 others(5): Show c.401+8C>A		DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	1/32					chr7	TogoVar
DGKK_chrX_50360409_50475825	50376926	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03453.hp1 HG03453.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0009 a0005c0013t0009	a0005c0013t0009g0024 a0005c0013t0009g0024	1	248	0.0040	0	c.311 others(6): Show c.3112-8A>T		DGKK	ENSG00000274588.2	transcript	ENST00000611977.2	protein_coding	22/27					chrX	TogoVar
DGKK_chrX_50360409_50475825	50382602	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02970.hp1 HG03453.hp1 HG03471.hp1 others(1): Show HG02970.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1	a0005 a0005	a0005c0008 a0005c0013 a0005c0008 a0005c0013	a0005c0008t0003 a0005c0013t0009 a0005c0008t0003 a0005c0013t0009	a0005c0008t0003g0023 a0005c0008t0003g0169 a0005c0008t0003g0196 others(1): Show a0005c0008t0003g0023 a0005c0008t0003g0169 a0005c0008t0003g0196 a0005c0013t0009g0024	4	248	0.0161	0	c.255 others(4): Show c.2551C>T	p.Arg others(6): Show p.Arg851Cys	DGKK	ENSG00000274588.2	transcript	ENST00000611977.2	protein_coding	18/28	2698/7494	2551/3816	851/1271		chrX	TogoVar
DGKK_chrX_50360409_50475825	50387546	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00642.hp1 HG00733.hp2 others(56): Show HG00099.hp2 HG00642.hp1 HG00733.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01257.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02165.hp1 HG02451.hp1 HG02615.hp2 HG02683.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03579.hp1 HG04199.hp1 HG06807.hp2 NA18906.hp2 NA18945.hp1 NA18963.hp1 NA18963.hp2 NA18967.hp1 NA18972.hp1 NA18987.hp1 NA19000.hp1 NA19003.hp1 NA19006.hp1 NA19009.hp1 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19066.hp1 NA19072.hp1 NA19075.hp1 NA19076.hp1 NA19083.hp1 NA19090.hp1 NA20300.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009	a0001c0003 a0001c0009 a0002c0004 others(8): Show a0001c0003 a0001c0009 a0002c0004 a0002c0005 a0003c0006 a0004c0007 a0005c0008 a0005c0013 a0006c0012 a0007c0020 a0009c0018	a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 others(10): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0009t0001 a0002c0004t0001 a0002c0005t0001 a0003c0006t0002 a0004c0007t0002 a0005c0008t0003 a0005c0013t0009 a0006c0012t0001 a0007c0020t0001 a0009c0018t0001	a0001c0003t0001g0006 a0001c0003t0001g0133 a0001c0003t0001g0134 others(52): Show a0001c0003t0001g0006 a0001c0003t0001g0133 a0001c0003t0001g0134 a0001c0003t0002g0019 a0001c0003t0002g0020 a0001c0003t0002g0021 a0001c0003t0002g0022 a0001c0003t0002g0146 a0001c0003t0002g0153 a0001c0003t0003g0033 a0001c0003t0003g0041 a0001c0003t0003g0048 a0001c0009t0001g0163 a0001c0009t0001g0170 a0002c0004t0001g0007 a0002c0004t0001g0008 a0002c0004t0001g0009 a0002c0004t0001g0128 a0002c0004t0001g0129 a0002c0004t0001g0130 a0002c0004t0001g0172 a0002c0004t0001g0175 a0002c0004t0001g0176 a0002c0004t0001g0177 a0002c0004t0001g0181 a0002c0004t0001g0184 a0002c0004t0001g0185 a0002c0004t0001g0186 a0002c0004t0001g0187 a0002c0004t0001g0188 a0002c0004t0001g0189 a0002c0004t0001g0190 a0002c0004t0001g0217 a0002c0004t0001g0218 a0002c0004t0001g0219 a0002c0004t0001g0220 a0002c0005t0001g0051 a0002c0005t0001g0053 a0002c0005t0001g0072 a0002c0005t0001g0073 a0002c0005t0001g0137 a0002c0005t0001g0168 a0003c0006t0002g0223 a0003c0006t0002g0224 a0003c0006t0002g0226 a0004c0007t0002g0231 a0004c0007t0002g0232 a0004c0007t0002g0233 a0005c0008t0003g0023 a0005c0008t0003g0169 a0005c0008t0003g0196 a0005c0013t0009g0024 a0006c0012t0001g0080 a0007c0020t0001g0164 a0009c0018t0001g0025	59	248	0.2379	0	c.211 others(6): Show c.2118+8C>T		DGKK	ENSG00000274588.2	transcript	ENST00000611977.2	protein_coding	14/27					chrX	TogoVar
DGKK_chrX_50360409_50475825	50388621	AG AG	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19075.hp1 NA19075.hp1	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0001 a0009c0018t0001	a0009c0018t0001g0025 a0009c0018t0001g0025	1	248	0.0040	-1	c.192 others(7): Show c.1927-4delC		DGKK	ENSG00000274588.2	transcript	ENST00000611977.2	protein_coding	12/27					chrX	TogoVar
DGKZ_chr11_46342463_46385551	46374929	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00735.hp1 HG01070.hp1 HG01074.hp1 others(71): Show HG00735.hp1 HG01070.hp1 HG01074.hp1 HG01081.hp1 HG01109.hp1 HG01192.hp2 HG01243.hp1 HG01257.hp2 HG01261.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01981.hp2 HG02004.hp1 HG02055.hp2 HG02145.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG04115.hp2 HG06807.hp2 NA18906.hp1 NA18942.hp1 NA18960.hp1 NA18964.hp2 NA18972.hp2 NA18978.hp1 NA18990.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0007 a0001c0004t0008 a0001c0006t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0015 others(50): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0002t0001g0025 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0003t0001g0011 a0001c0003t0001g0061 a0001c0004t0007g0068 a0001c0004t0008g0062 a0001c0006t0001g0031	74	272	0.2721	0	c.159 others(6): Show c.1596-5T>C		DGKZ	ENSG00000149091.15	transcript	ENST00000456247.7	protein_coding	18/30					chr11	TogoVar
DGLUCY_chr14_91109073_91230632	91160261	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp2 HG02280.hp1 HG01891.hp2 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0055 a0001c0001t0001g0059	2	216	0.0093	0	c.-29 others(5): Show c.-29-5C>T		DGLUCY	ENSG00000133943.21	transcript	ENST00000256324.15	protein_coding	2/13					chr14	TogoVar
DGLUCY_chr14_91109073_91230632	91173267	A A	AT AT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp2 HG02055.hp2 HG02486.hp2 others(21): Show HG01109.hp2 HG02055.hp2 HG02486.hp2 HG02630.hp1 HG02647.hp2 HG02723.hp2 HG02886.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03579.hp1 HG06807.hp2 NA18522.hp2 NA18961.hp1 NA19030.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0007 a0010	a0001c0001 a0001c0013 a0002c0002 others(3): Show a0001c0001 a0001c0013 a0002c0002 a0006c0018 a0007c0008 a0010c0012	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0013t0001 a0002c0002t0001 a0006c0018t0001 a0007c0008t0001 a0010c0012t0001	a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0026 others(21): Show a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0064 a0001c0001t0001g0084 a0001c0001t0001g0152 a0001c0001t0001g0216 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0005g0213 a0001c0001t0010g0179 a0001c0013t0001g0010 a0002c0002t0001g0004 a0002c0002t0001g0025 a0002c0002t0001g0115 a0006c0018t0001g0024 a0007c0008t0001g0001 a0007c0008t0001g0002 a0007c0008t0001g0003 a0007c0008t0001g0005 a0010c0012t0001g0188 a0010c0012t0001g0191	24	216	0.1111	1	c.457 others(6): Show c.457-7dupT		DGLUCY	ENSG00000133943.21	transcript	ENST00000256324.15	protein_coding	5/13				INFO_REALIGN_3_PRIME	chr14	TogoVar
DGLUCY_chr14_91109073_91230632	91173267	AT AT	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01074.hp1 HG01192.hp1 HG01192.hp2 others(19): Show HG01074.hp1 HG01192.hp1 HG01192.hp2 HG01884.hp2 HG02055.hp1 HG02145.hp1 HG02257.hp1 HG02280.hp2 HG02451.hp2 HG02572.hp1 HG02717.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG03098.hp2 HG03225.hp1 HG03516.hp1 NA19005.hp1 NA19005.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0015	a0001c0001 a0002c0002 a0003c0004 others(3): Show a0001c0001 a0002c0002 a0003c0004 a0004c0005 a0005c0015 a0015c0026	a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 a0002c0002t0008 a0003c0004t0001 a0004c0005t0001 a0005c0015t0001 a0015c0026t0015	a0001c0001t0001g0018 a0001c0001t0001g0093 a0001c0001t0001g0178 others(19): Show a0001c0001t0001g0018 a0001c0001t0001g0093 a0001c0001t0001g0178 a0001c0001t0001g0192 a0001c0001t0005g0177 a0001c0001t0005g0180 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0019 a0002c0002t0001g0087 a0002c0002t0001g0091 a0002c0002t0001g0142 a0002c0002t0001g0167 a0002c0002t0001g0183 a0002c0002t0001g0187 a0002c0002t0008g0078 a0003c0004t0001g0207 a0004c0005t0001g0184 a0005c0015t0001g0189 a0005c0015t0001g0202 a0015c0026t0015g0038	22	216	0.1019	-1	c.457 others(6): Show c.457-7delT		DGLUCY	ENSG00000133943.21	transcript	ENST00000256324.15	protein_coding	5/13				INFO_REALIGN_3_PRIME	chr14	TogoVar
DGLUCY_chr14_91109073_91230632	91181393	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00735.hp2 HG01257.hp2 HG03017.hp1 others(1): Show HG00735.hp2 HG01257.hp2 HG03017.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0003g0027 others(1): Show a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0003g0027 a0001c0001t0003g0031	4	216	0.0185	0	c.934 others(5): Show c.934+4A>G		DGLUCY	ENSG00000133943.21	transcript	ENST00000256324.15	protein_coding	8/13					chr14	TogoVar
DGLUCY_chr14_91109073_91230632	91199904	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02451.hp1 HG02559.hp2 HG02622.hp2 others(9): Show HG02451.hp1 HG02559.hp2 HG02622.hp2 HG02717.hp1 HG02809.hp2 HG02895.hp2 HG02897.hp2 HG02970.hp2 HG03195.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2	a0005 a0006 a0009 others(2): Show a0005 a0006 a0009 a0013 a0014	a0005c0009 a0005c0025 a0006c0018 others(4): Show a0005c0009 a0005c0025 a0006c0018 a0009c0016 a0009c0024 a0013c0014 a0014c0027	a0005c0009t0001 a0005c0025t0012 a0006c0018t0001 others(4): Show a0005c0009t0001 a0005c0025t0012 a0006c0018t0001 a0009c0016t0001 a0009c0024t0001 a0013c0014t0001 a0014c0027t0002	a0005c0009t0001g0145 a0005c0009t0001g0146 a0005c0009t0001g0148 others(9): Show a0005c0009t0001g0145 a0005c0009t0001g0146 a0005c0009t0001g0148 a0005c0009t0001g0149 a0005c0025t0012g0150 a0006c0018t0001g0024 a0009c0016t0001g0147 a0009c0016t0001g0151 a0009c0024t0001g0144 a0013c0014t0001g0164 a0013c0014t0001g0175 a0014c0027t0002g0140	12	216	0.0556	0	c.144 others(4): Show c.1443T>C	p.Thr others(6): Show p.Thr481Thr	DGLUCY	ENSG00000133943.21	transcript	ENST00000256324.15	protein_coding	11/14	1735/2957	1443/1866	481/621		chr14	TogoVar
DGLUCY_chr14_91109073_91230632	91199910	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	216	0.0046	0	c.144 others(6): Show c.1444+5G>C		DGLUCY	ENSG00000133943.21	transcript	ENST00000256324.15	protein_coding	11/13					chr14	TogoVar
DHCR7_chr11_71429411_71453393	71444219	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG01109.hp1 HG01346.hp1 others(3): Show HG00140.hp1 HG01109.hp1 HG01346.hp1 HG01361.hp2 NA18971.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0036 a0001c0002t0001g0009 a0001c0001t0002g0036 a0001c0002t0001g0009	6	410	0.0146	0	c.99- others(4): Show c.99-4G>A		DHCR7	ENSG00000172893.18	transcript	ENST00000355527.8	protein_coding	3/8					chr11	TogoVar
DHCR7_chr11_71429411_71453393	71444961	GCAAGAAA others(24): Show GCAAGAAAGAGAACCTTGCTTACATTATCCCT	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18985.hp1 NA18985.hp1	a0009 a0009	a0009c0029 a0009c0029	a0009c0029t0001 a0009c0029t0001	a0009c0029t0001g0055 a0009c0029t0001g0055	1	410	0.0024	-31	c.-6- others(41): Show c.-6-34_-6-4delAGGGATAATGTAAGCAAGGTTCTCTTTCTTG		DHCR7	ENSG00000172893.18	transcript	ENST00000355527.8	protein_coding	2/8					chr11	TogoVar
DHCR7_chr11_71429411_71453393	71448261	CCTCACCT others(16): Show CCTCACCTGCGCACACCTTGGCCA	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02622.hp1 NA21309.hp1 HG02622.hp1 NA21309.hp1	a0001 a0008 a0001 a0008	a0001c0007 a0008c0013 a0001c0007 a0008c0013	a0001c0007t0007 a0008c0013t0011 a0001c0007t0007 a0008c0013t0011	a0001c0007t0007g0099 a0008c0013t0011g0098 a0001c0007t0007g0099 a0008c0013t0011g0098	2	410	0.0049	-23	c.-13 others(37): Show c.-132+6_-132+28delTGGCCAAGGTGTGCGCAGGTGAG		DHCR7	ENSG00000172893.18	transcript	ENST00000355527.8	protein_coding	1/8					chr11	TogoVar
DHDDS_chr1_26427321_26476306	26447668	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0028 a0001c0001t0009g0028	1	314	0.0032	0	c.542 others(5): Show c.542+8G>A		DHDDS	ENSG00000117682.18	transcript	ENST00000236342.12	protein_coding	6/8					chr1	TogoVar
DHDH_chr19_48928699_48949969	48935479	CCACTGCA others(2284): Show CCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTTGGTCTTAGAAATAA ATAAATAGGCCGGGCGCGGTGGCTGACGCCTGTAATCCTAGCACTTTGGG AGGCCAAGGCGGGCAGATCATGAGGTCCGGAGATGGAGACCATCCTGGCT AATACGGTGAAACCGCATCTCCACTAAAAATACAAAAAATTAGCCGGGCA TGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCGCCAC TGCACTCCAGCCTGGGCGAAGAGTGAGACTCCGCCTCCAAAAAAAAAATT AATTAATTAATTAAAAATTTTAAAAAAGAGAGCGAGAATGGCGAGAGGTA ACAGCCCCTTCCTAAGGACAGCTCCCTAAGGGAGACAGGGGTGTGACCGA CCACCTGGTCCCTGGGTGCTAGGGCGGGGCCTCGAAGTTGTGGGCGGAGC TCGGCTGTCTGGGTGGGCGGGGCTGCTGACCTCTTGACCTACTCCCACCC TAGAGGTGGCCTACATTGGCACCCAGCACCCCCAGCACAAGGCGGCGGTG ATGCTGTGCTTGGCGGCGGGCAAGGCCGTTCTGTGCGAGAAGCCCACGGG CGTGAACGCGGCGGAAGTTCGCGAGATGGTCGCGGAGGCCCGATCCCGAG CCCTCTTCCTTATGGAGGTGAGGGCAGAGGAGCCCTTCCAATATCCAGCG TAAAAGTGCTTGCCATTAAATATGGTTGCCAGTGCGCGGACGGGGTCAGT GCATTTGCCAGGATGTATCTGAATCTCCTTGGCAGCATCTATTACCGTGA AAGCCATTGCTTTTGGCCCTTAGCAAACACGGCAAGGCTTACTGAAATTG CTTGGATCTTTTGTCAGTCTTTAAGAAAAAGATGCCGGCCGGGCGCGGTG GCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGAGCAC GGGGTCAGGAGATCGAGACCGTCCTGGCTAACATGGTGAAACCCCATCTC TTCTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTC CCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCG GAGCTTGCAGTCAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCAACA CAGTGAGACTCCGTCTCAAACAAGAAAAAAAACAAACAAAAAAAAAAACA AGAAAAAGATGCCAAGAGTGAAAGTGGCATAGAATGGCAATGGCTTAGTT TGGGTGGGGTTCCAGGTAGAGGTTGAAAGGACCAAGGAACCCCCTACAAA CCTGCAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCAG GTTAAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTT TCACCATGTTGGCCAGGCTGGTCTCAAACTCATGACTGCAAGTGATCCTC CTGCCGCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCCCCTACCTCAAGGTCTTTCATGTAATCCTATCCGCCAGGACCCCTT AGCCTTGTAAAGTCACACATTCACAGACTCCGGGGATCATCAGGTCGTGG ATATCTTTGGGGGCACCAGTAGCCTACTGCCACAACACCCAGGCTCAGAG CCTGCGCAGAGCCTGCCCCCGGCTCCCCAGTGCCCTCAGGCCTGTGTTCA CGCTCCTCTCGACTGCTCCGAGCCCGGGCGGACCTCGGCCACATCCGTCC TGCCCCGCCCTTCCCCCGTGAGCCCTGACACTCTTGCGTCAGCATTTTTA GAAATTGCTGGTGTGGGCCAGATGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGAC CAGCCTGGCCAACATGGCGAAACTCCGTCTCTACTAAAAAAGTACAAAAA TTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTCGAGAGGCA GAGGCGGGCGGATCACGACGTCAGGAGATCGAGACCATCCTGTCTAACAC AGTGAAACCCCGCCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTG GCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTAAGATCCCGA	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG03704.hp1 HG03704.hp1	a0019 a0019	a0019c0030 a0019c0030	a0019c0030t0001 a0019c0030t0001	a0019c0030t0001g0201 a0019c0030t0001g0201	1	436	0.0023	-2291	c.202 others(16): Show c.202+387_366+1593del		DHDH	ENSG00000104808.8	transcript	ENST00000221403.7	protein_coding	3/7				INFO_REALIGN_3_PRIME	chr19	TogoVar
DHODH_chr16_72003744_72032659	72008783	A A	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(252): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03688.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19010.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19082.hp2 NA19083.hp1 NA19087.hp1 NA19087.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1	a0001 a0003 a0005 others(4): Show a0001 a0003 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0001c0008 a0001c0009 others(6): Show a0001c0001 a0001c0008 a0001c0009 a0003c0003 a0005c0005 a0006c0010 a0007c0007 a0008c0006 a0009c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(57): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0080 a0001c0008t0058 a0001c0009t0004 a0003c0003t0009 a0003c0003t0025 a0003c0003t0059 a0003c0003t0064 a0005c0005t0012 a0005c0005t0018 a0006c0010t0004 a0007c0007t0004 a0008c0006t0017 a0009c0011t0043	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 others(180): Show a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0013 a0001c0001t0002g0022 a0001c0001t0002g0045 a0001c0001t0002g0170 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0189 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0197 a0001c0001t0002g0200 a0001c0001t0002g0228 a0001c0001t0002g0254 a0001c0001t0003g0226 a0001c0001t0004g0002 a0001c0001t0004g0003 a0001c0001t0004g0004 a0001c0001t0004g0006 a0001c0001t0004g0007 a0001c0001t0004g0009 a0001c0001t0004g0044 a0001c0001t0004g0048 a0001c0001t0004g0173 a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0187 a0001c0001t0004g0208 a0001c0001t0004g0209 a0001c0001t0004g0212 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0004g0227 a0001c0001t0004g0230 a0001c0001t0005g0002 a0001c0001t0005g0004 a0001c0001t0005g0007 a0001c0001t0005g0008 a0001c0001t0005g0021 a0001c0001t0005g0023 a0001c0001t0005g0044 a0001c0001t0005g0048 a0001c0001t0005g0181 a0001c0001t0005g0195 a0001c0001t0005g0210 a0001c0001t0006g0002 a0001c0001t0006g0004 a0001c0001t0006g0007 a0001c0001t0006g0008 a0001c0001t0006g0205 a0001c0001t0006g0213 a0001c0001t0006g0214 a0001c0001t0007g0026 a0001c0001t0007g0027 a0001c0001t0007g0049 a0001c0001t0007g0052 a0001c0001t0007g0053 a0001c0001t0007g0245 a0001c0001t0007g0249 a0001c0001t0007g0250 a0001c0001t0007g0251 a0001c0001t0007g0252 a0001c0001t0007g0253 a0001c0001t0008g0001 a0001c0001t0008g0003 a0001c0001t0008g0006 a0001c0001t0008g0172 a0001c0001t0008g0186 a0001c0001t0008g0196 a0001c0001t0008g0202 a0001c0001t0008g0204 a0001c0001t0008g0207 a0001c0001t0008g0211 a0001c0001t0010g0037 a0001c0001t0010g0038 a0001c0001t0010g0151 a0001c0001t0010g0153 a0001c0001t0010g0155 a0001c0001t0010g0156 a0001c0001t0010g0157 a0001c0001t0010g0158 a0001c0001t0010g0159 a0001c0001t0010g0160 a0001c0001t0010g0161 a0001c0001t0010g0163 a0001c0001t0011g0002 a0001c0001t0011g0004 a0001c0001t0011g0148 a0001c0001t0011g0150 a0001c0001t0011g0179 a0001c0001t0011g0188 a0001c0001t0011g0198 a0001c0001t0012g0024 a0001c0001t0012g0025 a0001c0001t0012g0047 a0001c0001t0012g0218 a0001c0001t0012g0224 a0001c0001t0013g0021 a0001c0001t0014g0003 a0001c0001t0014g0008 a0001c0001t0014g0009 a0001c0001t0014g0013 a0001c0001t0014g0199 a0001c0001t0014g0217 a0001c0001t0015g0027 a0001c0001t0015g0053 a0001c0001t0015g0243 a0001c0001t0015g0247 a0001c0001t0015g0248 a0001c0001t0016g0024 a0001c0001t0016g0025 a0001c0001t0016g0223 a0001c0001t0017g0001 a0001c0001t0017g0006 a0001c0001t0017g0190 a0001c0001t0018g0046 a0001c0001t0018g0219 a0001c0001t0019g0001 a0001c0001t0019g0002 a0001c0001t0019g0003 a0001c0001t0019g0203 a0001c0001t0020g0003 a0001c0001t0020g0013 a0001c0001t0022g0008 a0001c0001t0022g0180 a0001c0001t0025g0168 a0001c0001t0025g0201 a0001c0001t0027g0233 a0001c0001t0027g0244 a0001c0001t0028g0002 a0001c0001t0029g0191 a0001c0001t0029g0193 a0001c0001t0030g0001 a0001c0001t0030g0185 a0001c0001t0031g0003 a0001c0001t0031g0045 a0001c0001t0038g0152 a0001c0001t0038g0162 a0001c0001t0039g0149 a0001c0001t0040g0255 a0001c0001t0041g0246 a0001c0001t0042g0242 a0001c0001t0044g0052 a0001c0001t0045g0231 a0001c0001t0046g0237 a0001c0001t0047g0221 a0001c0001t0048g0222 a0001c0001t0049g0001 a0001c0001t0050g0169 a0001c0001t0052g0206 a0001c0001t0053g0043 a0001c0001t0054g0001 a0001c0001t0055g0008 a0001c0001t0056g0229 a0001c0001t0073g0038 a0001c0001t0074g0154 a0001c0001t0075g0236 a0001c0001t0076g0004 a0001c0001t0080g0171 a0001c0008t0058g0235 a0001c0009t0004g0174 a0003c0003t0009g0012 a0003c0003t0009g0020 a0003c0003t0009g0039 a0003c0003t0009g0040 a0003c0003t0009g0164 a0003c0003t0009g0166 a0003c0003t0025g0012 a0003c0003t0059g0165 a0003c0003t0064g0167 a0005c0005t0012g0225 a0005c0005t0018g0220 a0006c0010t0004g0001 a0007c0007t0004g0178 a0008c0006t0017g0176 a0009c0011t0043g0232	255	414	0.6159	0	c.19A others(2): Show c.19A>C	p.Lys others(4): Show p.Lys7Gln	DHODH	ENSG00000102967.12	transcript	ENST00000219240.9	protein_coding	1/9	40/4669	19/1188	7/395		chr16	TogoVar
DHODH_chr16_72003744_72032659	72023158	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0210 a0001c0001t0005g0210	1	414	0.0024	0	c.820 others(5): Show c.820-7A>G		DHODH	ENSG00000102967.12	transcript	ENST00000219240.9	protein_coding	6/8					chr16	TogoVar
DHRS11_chr17_36586879_36605804	36594968	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	385	0.0026	0	c.148 others(5): Show c.148-3T>C		DHRS11	ENSG00000278535.5	transcript	ENST00000618403.5	protein_coding	1/6					chr17	TogoVar
DHRS11_chr17_36586879_36605804	36600156	CCA CCA	C C	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00280.hp1 HG00408.hp1 HG00544.hp1 others(108): Show HG00280.hp1 HG00408.hp1 HG00544.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp2 HG01070.hp2 HG01074.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01928.hp1 HG01952.hp1 HG01993.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02486.hp1 HG02622.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG03139.hp2 HG03239.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18978.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18990.hp2 NA18993.hp2 NA18995.hp1 NA18997.hp1 NA19001.hp1 NA19004.hp2 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp1 NA19063.hp1 NA19068.hp2 NA19079.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp1 NA19240.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0086 a0002c0003t0001g0001	111	385	0.2883	-2	c.742 others(13): Show c.742-3_742-2delCA		DHRS11	ENSG00000278535.5	transcript	ENST00000618403.5	protein_coding	6/6				INFO_REALIGN_3_PRIME	chr17	TogoVar
DHRS13_chr17_28892781_28908079	28897781	T T	C C	splice_region_variant splice_region_variant	LOW	HG00423.hp1 HG00423.hp2 HG00544.hp1 others(81): Show HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00642.hp1 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01192.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01952.hp2 HG02027.hp1 HG02129.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02523.hp1 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02717.hp1 HG02735.hp2 HG02965.hp2 HG03017.hp1 HG03195.hp2 HG03471.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03688.hp1 HG03834.hp1 HG04184.hp1 HG04228.hp2 NA18906.hp2 NA18945.hp1 NA18948.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18966.hp2 NA18968.hp2 NA18971.hp1 NA18974.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18986.hp2 NA18993.hp2 NA18994.hp1 NA18999.hp1 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19012.hp1 NA19030.hp2 NA19054.hp1 NA19060.hp1 NA19062.hp2 NA19063.hp1 NA19065.hp2 NA19070.hp1 NA19077.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp2 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 a0001c0002t0011 a0001c0008t0002	a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 others(9): Show a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0003g0005 a0001c0002t0002g0003 a0001c0002t0002g0017 a0001c0002t0002g0019 a0001c0002t0002g0038 a0001c0002t0002g0040 a0001c0002t0002g0044 a0001c0002t0011g0039 a0001c0008t0002g0041	84	412	0.2039	0	c.66 others(4): Show c.660A>G		DHRS13	ENSG00000167536.14	transcript	ENST00000378895.9	protein_coding	5/5					chr17	TogoVar
DHRS1_chr14_24285598_24304780	24291140	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0043 a0001c0009t0003g0043	1	414	0.0024	0	c.804 others(3): Show c.804C>T	p.Asp others(6): Show p.Asp268Asp	DHRS1	ENSG00000157379.14	transcript	ENST00000288111.12	protein_coding	8/9	1028/1427	804/942	268/313		chr14	TogoVar
DHRS1_chr14_24285598_24304780	24291558	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01243.hp1 HG01243.hp2 HG01346.hp1 others(32): Show HG01243.hp1 HG01243.hp2 HG01346.hp1 HG01884.hp2 HG01952.hp1 HG02055.hp1 HG02083.hp1 HG02145.hp1 HG02280.hp1 HG02523.hp2 HG02615.hp2 HG02723.hp2 HG02809.hp1 HG02895.hp1 HG02897.hp1 HG02965.hp1 HG02976.hp1 HG03098.hp1 HG03130.hp1 HG03225.hp1 HG03579.hp2 HG03669.hp1 HG03834.hp2 HG03927.hp2 NA18941.hp1 NA18942.hp2 NA18975.hp1 NA18977.hp1 NA18984.hp1 NA19001.hp1 NA19043.hp2 NA19055.hp1 NA19075.hp2 NA19077.hp2 NA19089.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0005 a0002c0003 a0003c0005	a0002c0003t0001 a0003c0005t0001 a0002c0003t0001 a0003c0005t0001	a0002c0003t0001g0007 a0002c0003t0001g0022 a0002c0003t0001g0031 others(1): Show a0002c0003t0001g0007 a0002c0003t0001g0022 a0002c0003t0001g0031 a0003c0005t0001g0015	35	414	0.0845	0	c.722 others(3): Show c.722C>T	p.Thr others(6): Show p.Thr241Ile	DHRS1	ENSG00000157379.14	transcript	ENST00000288111.12	protein_coding	7/9	946/1427	722/942	241/313		chr14	TogoVar
DHRS1_chr14_24285598_24304780	24292788	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01952.hp1 HG03669.hp1 HG01952.hp1 HG03669.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0031 a0002c0003t0001g0031	2	414	0.0048	0	c.375 others(5): Show c.375-4C>A		DHRS1	ENSG00000157379.14	transcript	ENST00000288111.12	protein_coding	4/8					chr14	TogoVar
DHRS2_chr14_23631364_23650639	23636779	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0065 a0001c0001t0005g0065	1	446	0.0022	0	c.-39 others(5): Show c.-39+7A>T		DHRS2	ENSG00000100867.15	transcript	ENST00000250383.11	protein_coding	1/8					chr14	TogoVar
DHRS2_chr14_23631364_23650639	23644404	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18985.hp2 NA18985.hp2	a0000 a0000	a0000c0005 a0000c0005	a0000c0005t0002 a0000c0005t0002	a0000c0005t0002g0038 a0000c0005t0002g0038	1	446	0.0022	0	c.541 others(5): Show c.541-5C>T		DHRS2	ENSG00000100867.15	transcript	ENST00000250383.11	protein_coding	6/8					chr14	TogoVar
DHRS2_chr14_23631364_23650639	23644888	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18985.hp2 NA18985.hp2	a0000 a0000	a0000c0005 a0000c0005	a0000c0005t0002 a0000c0005t0002	a0000c0005t0002g0038 a0000c0005t0002g0038	1	446	0.0022	0	c.731 others(5): Show c.731+6T>A		DHRS2	ENSG00000100867.15	transcript	ENST00000250383.11	protein_coding	8/8					chr14	TogoVar
DHRS3_chr1_12562910_12623210	12568430	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp2 HG00558.hp1 HG01081.hp2 others(55): Show HG00323.hp2 HG00558.hp1 HG01081.hp2 HG01192.hp1 HG01884.hp2 HG01891.hp1 HG02129.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02523.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02818.hp2 HG02965.hp1 HG02976.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03540.hp2 HG03704.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 NA18522.hp2 NA18906.hp2 NA18939.hp1 NA18947.hp2 NA18949.hp1 NA18952.hp2 NA18954.hp1 NA18960.hp1 NA18961.hp1 NA18966.hp1 NA18970.hp2 NA18971.hp2 NA18975.hp2 NA18979.hp2 NA19002.hp2 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19030.hp1 NA19030.hp2 NA19058.hp2 NA19067.hp2 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19079.hp1 NA19088.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 others(20): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0028 a0001c0001t0029 a0001c0001t0034 a0001c0001t0035 a0001c0001t0038 a0001c0001t0039 a0001c0001t0044 a0001c0001t0047 a0001c0001t0048 a0001c0001t0051 a0001c0001t0060 a0001c0001t0062 a0001c0001t0063 a0001c0001t0065 a0001c0001t0073 a0001c0001t0077 a0001c0001t0081 a0001c0007t0068	a0001c0001t0002g0007 a0001c0001t0002g0110 a0001c0001t0002g0129 others(54): Show a0001c0001t0002g0007 a0001c0001t0002g0110 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0136 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0002g0156 a0001c0001t0002g0166 a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0014g0278 a0001c0001t0014g0285 a0001c0001t0014g0286 a0001c0001t0014g0287 a0001c0001t0016g0237 a0001c0001t0016g0244 a0001c0001t0016g0249 a0001c0001t0016g0250 a0001c0001t0016g0255 a0001c0001t0017g0307 a0001c0001t0017g0324 a0001c0001t0017g0325 a0001c0001t0028g0258 a0001c0001t0028g0259 a0001c0001t0028g0262 a0001c0001t0029g0027 a0001c0001t0034g0184 a0001c0001t0035g0193 a0001c0001t0038g0217 a0001c0001t0038g0219 a0001c0001t0039g0226 a0001c0001t0044g0292 a0001c0001t0044g0293 a0001c0001t0047g0336 a0001c0001t0047g0342 a0001c0001t0048g0344 a0001c0001t0051g0015 a0001c0001t0060g0091 a0001c0001t0062g0185 a0001c0001t0063g0196 a0001c0001t0065g0203 a0001c0001t0073g0216 a0001c0001t0077g0265 a0001c0001t0081g0275 a0001c0007t0068g0209	58	376	0.1543	0	c.825 others(5): Show c.825-6C>T		DHRS3	ENSG00000162496.9	transcript	ENST00000616661.5	protein_coding	5/5					chr1	TogoVar
DHRS3_chr1_12562910_12623210	12579420	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	376	0.0027	0	c.340 others(5): Show c.340-8G>A		DHRS3	ENSG00000162496.9	transcript	ENST00000616661.5	protein_coding	2/5					chr1	TogoVar
DHRS4_chr14_23948770_23974279	23953915	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01884.hp2 HG01884.hp2	a0011 a0011	a0011c0025 a0011c0025	a0011c0025t0014 a0011c0025t0014	a0011c0025t0014g0191 a0011c0025t0014g0191	1	267	0.0038	0	c.127 others(3): Show c.127G>T	p.Gly others(5): Show p.Gly43Trp	DHRS4	ENSG00000157326.19	transcript	ENST00000313250.10	protein_coding	1/8	146/1264	127/837	43/278		chr14	TogoVar
DHRS4_chr14_23948770_23974279	23953924	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp2 HG01884.hp2	a0011 a0011	a0011c0025 a0011c0025	a0011c0025t0014 a0011c0025t0014	a0011c0025t0014g0191 a0011c0025t0014g0191	1	267	0.0038	0	c.128 others(5): Show c.128+8C>T		DHRS4	ENSG00000157326.19	transcript	ENST00000313250.10	protein_coding	1/7					chr14	TogoVar
DHRS4_chr14_23948770_23974279	23955211	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01884.hp2 HG01884.hp2	a0011 a0011	a0011c0025 a0011c0025	a0011c0025t0014 a0011c0025t0014	a0011c0025t0014g0191 a0011c0025t0014g0191	1	267	0.0038	0	c.305 others(3): Show c.305C>T	p.Thr others(6): Show p.Thr102Met	DHRS4	ENSG00000157326.19	transcript	ENST00000313250.10	protein_coding	2/8	324/1264	305/837	102/278		chr14	TogoVar
DHRS4_chr14_23948770_23974279	23955212	G G	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0004 a0002c0015t0004	a0002c0015t0004g0075 a0002c0015t0004g0075	1	267	0.0038	0	c.306 others(3): Show c.306G>C	p.Thr others(6): Show p.Thr102Thr	DHRS4	ENSG00000157326.19	transcript	ENST00000313250.10	protein_coding	2/8	325/1264	306/837	102/278		chr14	TogoVar
DHRS4_chr14_23948770_23974279	23967207	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp2 HG01109.hp2	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0013 a0010c0016t0013	a0010c0016t0013g0035 a0010c0016t0013g0035	1	267	0.0038	0	c.667 others(5): Show c.667-4G>A		DHRS4	ENSG00000157326.19	transcript	ENST00000313250.10	protein_coding	6/7					chr14	TogoVar
DHRS4_chr14_23948770_23974279	23967493	CTCTGGGA others(6779): Show CTCTGGGAGAAGCCCTGAGTCCTCTCTCCACCTGGGGGATTGCCTCCACC TCTGAGCATCCATGGAGACCAGGGACCATAACCAAAACCATGCTTTGTTA GTCCCCTTGAATAATGACACATGTTTACAAAACTCAGGTTGATGATCTAC AATCCAAATGAAAAGAATGAAGAGTTTTACTAAGCCCCAAACTCCCCTTG CCTAAGGAGTTACTTTCTTCCCCAGTGAGCTGGGTGAACTGTTCAAGCAC CTTTGTCGGGCTCCCTTTCCTCTAAGTTCCCTGCCTCTCTCTACCTTCTG GCTTCAAGGACAAATGCCAGTAATGCCTAACTCTGTACTCGTCCAGACAT CCCAAATCTTCCCAAAGCCATTCTGATGTGAGACATGAGCTGCAGGCCTG GTTCATAACTCATTAATAAGTGAGGGGATTGTCAACCTAGAGCACCAATG AATGATCTAGCCCATGTAGCTCAATACTGGATTCACATTAGAATCACCTG GGGAGCTTTTTAAACTGCAGGTGCTCAGGCCCCACCCACTCCCAGAGATT CTTTTTAATTGGTCCAAGGTAGGACTTGACCATCTGGGCTTTTGTTTTTC TTTGTCTTTTCTTTTCTTTTCTTTTTTGGTTTAAGCCTCTCAAATGATTG CAAGATACAAGTAGAATGGAGAAGCATTAATTCAGCCCTTCTAGGTTTGA GTTACTCACTCTGCCCACCTCTAGAGCATTCTATGGCAGGGAGATTAAAG TGTCTCCTAACTATGCAGTCACTGATAAAATAAGAATTAGCACATTCTCA CTAAATGAACCTGACTTTAAGGCACAAGTATAGATTCCTGAAAAAGTTCT AAGCTGAACCTGTACAAATGGAATCATTTTAAACACACCATTTACTGTCA CACAGACTCCCTGATACTTTAGTGTGTGCACATGTGAAACCATTTTTTTG AAGTATGAAATAATTGCTCACCATTTTATCTATATAACTTTGGATTTTGG TGTCCTGAGCTCTCTAAAAACCGGTGTGTTTCTATAGTATTTGAATATTA TGGGTAATAGTTTTGCAGAGTACAGTATGCTTATACTAAATTATAACAGC ATATCCTCGTGGTAACCCTATTTGATAGGCAGAAAGCTTGTACACTGACC CTGAAAAAGCCATCTGATAATTCTTGATTAAGCAAATTTAACTCCCTGTG TCCCAGGTGAGGGAGGCAGAACTGTTTGATTTTTACCTCCTTCCTTGCTT CCCTTATTCCCCAGGTTAGGCGAGCCAGAGGATTGTGCTGGCATCGTGTC TTTCCTGTGCTCTGAAGATGCCAGCTACATCACTGGGGAAACAGTGGTGG TGGGTGGAGGAACCCCGTCCCGCCTCTGAGGACCGGGAGACAGCCCACAG GCCAGAGTTGGGCTCTAGCTCCTGGTGCTGTTCCCGCATTCACCCACTGG CCTTTCCCACCTCTGCTCACCTTACTGTTCACCTCATCAAATCAGTTCTG CCCTGTGAAAAGATCCAGCCTTCCCTGCCGTCAAGGTGGCGTCTTACTCG GGATTTCTGCTGTTGTTGTGGCCTTGGGTAAAGGCCTCCCCTGAGAACAC AGGACAGGCCTGCTGACAAGGCTGAGTCTACCTTGGCAAAGACCAAGATA TTTTTTCCCGGGCCACTGGGGAATCTGAGGGGTGATGGGAGAGAAGGAAC CTGGAGTGGAAGGAGCAGAGTTGCAAATTAACAACTTGCAAATGAGGTGC AAATAAAATGCAGATGATTGCGCGGCTTTGAATCCAATTGACCTGTTCAT TTCTCAGTGTTGGGTGCTTAGCTGAGCAGAGAGCAGAAGTCTATTCAGGC TGGATCTCTGGATCCCCCAGCCCTCCTCCCTGTCTCCAGAACTTGAGCGT GATGTTCACGGGTGGAGGTGTCTGCAGAGCTGCCAGCTGGAAGGAAGGTG GCACGGGAACTCCCAGGACGCCACGGGAATCCCCGAGGCAGCGCGAGCCC GGAGAGAGTGGGGAAGGATGAACTCTCTAACACCTCCCCGCCCCTTGCCT CCCAGATCAGGCCAGGTCCTCTCCCCGCATGGCCCTACGACCCGAGTTCC CTCCCGAGTCAGCAAGTACAAGCTGGATGGGTCCTGAGCCGGTGGGGAAT AGAGAAAGGCCCTGCAAGGTACCCAGGCCCACAAACAAAAGCAATGGGTT CTGCCCACGGGCCCGAGGATTCAGTAGAAGGAAAGTGGGGACGCTGTCCC CCGCCCCAAAGGCACTGACACTGGGCGACACACGCTGAGCCTCTCACGCC GACGGGCCTCTCACGCCGGAGCCGGCAAGAAAGGTCGGCGCCAGCCCGCG GGCTCTCAGGAGGCTCGGCAGCGCGACGCGCATGCTCAGTCGGGCAGCTC TCCGGGCCGGCGTGGGAGCCCGCGCTCCAAGGCCCGGTGGGGGGAGGGGC GCTCACGCAACCGCCACTGTCTGGAGCGGGCTCGCCTCTGCGGCAGCCCT CACCGCCCGGGCTTTACTGAAGCGGAGTCTAGCATGTGCGGCTGCTCCAC AGCGGTGTGGGTGGCGGCGGCTCCTCTGCAGCAGCCTCGGCAGTAGGGGT CAGGGTGGCCAAGCCCACCGTGGAGCTCATCTGAGAGTTGTAAGGTACGG GACTGCCTCGGTCTTTGGGACGCCCCGTCTGGTAGCATCCCAGATCCAGC ACGTTCCTTCCGGCCCTGCACCCCGGCCCGGTGCCTCACACCCCGCTACC CCAAGCATCCAGACTCTAAGGCAGCCCCTGCATCTCAGTCCTGACATCGC TGTCCCTGGAGCATCCTCCGCTGGAGCTGGAGCTTGACAGGTAGGGTGGA GAGGGCGGTGGGGGGCGGGGGGCCGAAACTGCATCAGTTAACGGGGCCGT GGGGGAGGGAAGTCCTCCATTGCTAAGGCTTCAGTAGGCGTTCTATGATC ACAGTGTAAACAAAGCTGCAGGGAAGCTCTAACTGGGCGGAACCCACCGC AGCTCAGCAAGGCCTACTGCCTCTCCAGATTCCACCTCAGGGGCCAGGGC ATATCTGAACAAAAGGCAGCGGACAGCTTCTGCAGACTTCAGTGTCCTTG CCTGACATCTCTAAAGACAGCAGTGGTTCTCCCAGCACGGAGTTCGTGCT CCGATAACGGACAGACTGCCTCCCCGAGTGGGTCCCTGACCCCCATGTAG CTTGACTGAAAAACACCGACCAGTAGGGGCGGAGAGACACCTCATACAGG TGGGTGCCCCTGTGGAACAAAGCTTCCAGAAGAAGGATCAGGCAGCAATA TTTGCTGTTCTGCAGCCTCCTCTACTGATACCCAAGAAAATAAGGTCTGG AATGGACTTCCAGCAAACCCCCAAAGACCTGCAGCTGAGGGGCCTGTTAG AAGGAAAACTAACAAACAGAAAGGAATAGCATCAACATCAGCAAAGGACA GCATCAACATCAGAATAGCAAAGGACATCCACACTAAAACCCCATCCATA GGTCACCAACATCAAAGACCAAAGGTAGATAAAACCACAAAGATGGAGAG AAACCAGAGCAGAAATGCTGAAACTTCCAGAAACCAGAACGTCTCTTCTC TTCCAAAGGAATACAAGTCCTCACCAGCAAGGGAACAAAACTGGATGGAG AATAAGTTTGATAACTTGACAGAAGTTAAGCTTCAGAAGGTCAGTAATAA CAAACTACTCCCAGCTAAAGGAACATGTTCTAACCCATTACAAGGAAGCT AAAAACCTTCAAAAAAAGGTTAAACGAATGGCTAACTAGAATGAAGAATG TAGAGAAGAGCTTAAATGACCTGATGGAGCTGATAACCACAGTACAAGAA CTTCATGAAGGATACACAAGCTTCAATAGCTGATTCAATCAAGTGGAAGA AAGGATATCAGTGATTGAAGATAAAATTAATGAAATAAAGTGAGAAGACA AGATTAGAGACAAAAAAATAAAAAAGAAACATTCAAATTCAGGAAATACA GAGAACATCACAAAGATACTCCTTGAGAAGAGCAACCCCAAGACACATAA TTGTCAGACTCAGCAAGGTTAAGGGCAGCCAGAGAGAAAGGTTGGGTGAC CAACAAAGGGAAGCCCATCAGACTAACAGCAGATCTCTCAGCAGAAACCA TACAAACCAGAAAAGAGTTGGGACCAATATTCAACATTCTGAAAGAAAAG ATTTTTGAAACTAGAATTTCATATCCAGCCAAACTAAGCTTCGTATGTGA ATGAGAAATAAAATCCTTTGCAGACAAGGAGATGCTGAGAGATTTTGTCA CCACCAGGCCTGCCTTACAATAAGAGCTCCTGAAGGAAGCACTAAACATG GAAAGGAACAACGGGTACCAGCCACTGCAAAAACATACGAAATTGTAAAG ACCATTGATGCTATGAAGAAACTGCATCAATTAATGGGCAAAATAACCAG CTAACGTCATGACAGGATCAAATTCACATATAACAATACTAACCTTCAAT GTAAATGGGATAAATGCCCCAATTAAAAGACACAGACTGGCAAATTGGAT AAAGAATCAAGACCCATATGGTGTGCTGTATTCAGGAGACCCATCTCACA TGCAAAGACACACATAGGCCCAAAATGAAGGTATGTCTGGAATTGGTGGG TTCTTGGTCTCACTGACTTCAAGAATGAAGCTGCGGACCCTCGCGGTGAG TGTTACAGTTCTTAAAGGCAGCGTGTCTGGAGTTTGTTCCTTCTGATGTT CAGACATGTTCAGAGTTTCTTCCTTCTGGTGGGTTCGTGGTCTTGCTGGC TTCAGGAGTGAAGCTGCGGACCTTCGCAGTGAGTGTTACAGCTCTTAAGG CAGCATGTCTGGAGTTGTTCGTTCCTCCTGTCTGGAGTTGTTCATTCCTC CTGGTGGGTTCGTGGCCTCACTGGCCTCAGGAGTGAAGCTGCAGACCTTC ACGGTGAGTGTTACAGCTCATAAAGGCAGTGTGGACCCAAAGAGTGAGCA GCAGCAAGATTTATTGCAAAGAGTGAAAGAACAAAGCTTCCACAGTGTGG AAGGGGACCCAAGCGGGTTGCTACTGCTTGAAGGGGTGGCTTGCCCCTCC ACACCTGTGGGTATTTCTAGTCAGGTGGGACAAGAGACTGAGAAAGAGAA ATAAGACACAGAGACAAAGTATAGAGAAACAACAGTGAGTCCAGGGGACC GGCGCTCAGCATACCAAGGACCTGCACCGGCACCGGTCTCTGAATTCCCT CAGTTTTTATTGATTATTATCGTCATTATTTCAGTAAAAAGGAATGTAGT AGGAGGGCAGGGTGATAATAAGGAGAAGGTCAGCAACAAACGTGAGCAAT AGAATCTACATCATAATTCAGTTCAAGGGAAGGTACTATGACTGGACGTG CACGTAAGCCAGATTTATGTTTCTCTCCACCCAAACATGTCGGTGGAGTA AAGAATAACAAGGCAGCATTGCTGCAAACATGTCTCGCCTCCCACCATAG GGCAGTTTTTCTCTCATTTCAGAATTGAACAAATGTACAATCGGGATTTA TACCGAGACATTTAGTTCCCATGGGCAGGCAGGAGACAGTGGCCTTCCTC TATCTCGACTGCAAGAGGCTTTCCTCTTTTACTAATCCACCAGAGCACAG ACCCTTTATGGGTGTCAGGCTGGGGGACAGTCAGGTCTTTCTCATCCCAT GAGGCCATATTTCAGACTATCACATGGGGAGAAACCTTGGACAATACCCT GCTTTCAAGGGCAGAGGTCCCTGTGGCTTTCTGCAGTGCATTGTGCCGCC AAGGCCACACCCACCCAGAACTCGTGCTGGCCTGCAAGTGCTGCGCACAG CCCCAGTTCCCGCCCATGCCTCTCCCTCCACACCTCCCTGCAATCTGAGG AAGCCAGCTCCAGTCTCAGCCAGCCCAGAAAGGGGCTCCCACAGTGCAGC GGCGGGCTGAAGGGCTCCTCAAGCGTGGCCAGAGTGGGTGCTGAGGCTGA GGAGGTGCCAAGAGTGAGCGAGGGCTGCCAGCACACTGCCACCTCTCAAA GGGATGGAGGAAGATCTACAAAACAAATGGAAAGCAAAAAAAAGCAGGGA TTGCAATCCTGGTCTCTGATAAAACAGACATTAAACCAACAAAGATGAAA GGAGACAAAGAAGGCCATCACATAATGGTAAGGGGATCAGTTCAACAAGA AGAGCTAACTATCCTAAATATATATGCACCCAATACAGGAGAACCCAGAT TCATAAAGCAAGTTCTTAGAGACCTACAAAGAGGCTTAGACTCCCATACA ATAGTAATGGGAGACAGTAACACCCCACTGTTAATATTAGACAGAAAACA TGACAAAATTAATAAGGATGTCCAGGACTTGAACTCAGCTCTAGACCAAG TAGGCCTAATACACATCTACAGAACTCTCCACCCCAAGTCAACACAATAT ACATTCTTCTCAGCACCACATCACACTTATTCTAAAATTGACCACATAAT TGGAAGTAAAACACTCCTCAGCAAATGCCAAAGAACAGCAATCACAACAA ACTGTCTCCCAGACCACAGTGCAATCAAATTAGAACTCAGGACTGAAAAA CTCACTCAAAACTGCACAACTACATGGAAACTGAACAACCTGCTCCTGAA TGACTACTAGGTAAATAACAAACTGAAGGCAGAAATAAACATGGTCTTTG AAACCAATGAGAACAAAGACACAGTGTAGCAGAATCTCTGGGACACATTT AAAACAGTGTGTAGAGGGATATTTACAGCACTGAATA	C C	exon_loss_variant others(5): Show exon_loss_variant splice_acceptor_variant 3_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	HG02145.hp2 HG02897.hp1 HG06807.hp1 others(5): Show HG02145.hp2 HG02897.hp1 HG06807.hp1 NA18982.hp2 NA18988.hp1 NA18992.hp1 NA18992.hp2 NA19090.hp1	a0000 a0000	a0000c0004 a0000c0008 a0000c0004 a0000c0008	a0000c0004t0005 a0000c0008t0012 a0000c0004t0005 a0000c0008t0012	a0000c0004t0005g0026 a0000c0004t0005g0139 a0000c0004t0005g0142 others(4): Show a0000c0004t0005g0026 a0000c0004t0005g0139 a0000c0004t0005g0142 a0000c0004t0005g0179 a0000c0008t0012g0044 a0000c0008t0012g0055 a0000c0008t0012g0068	8	267	0.0300	-6786	c.722 others(13): Show c.722+228_*5408del		DHRS4	ENSG00000157326.19	transcript	ENST00000313250.10	protein_coding	8/8					chr14	TogoVar
DHRS4_chr14_23948770_23974279	23967497	GGGAGAAG others(6775): Show GGGAGAAGCCCTGAGTCCTCTCTCCACCTGGGGGATTGCCTCCACCTCTG AGCATCCATGGAGACCAGGGACCATAACCAAAACCATGCTTTGTTAGTCC CCTTGAATAATGACACATGTTTACAAAACTCAGGTTGATGATCTACAATC CAAATGAAAAGAATGAAGAGTTTTACTAAGCCCCAAACTCCCCTTGCCTA AGGAGTTACTTTCTTCCCCAGTGAGCTGGGTGAACTGTTCAAGCACCTTT GTCGGGCTCCCTTTCCTCTAAGTTCCCTGCCTCTCTCTACCTTCTGGCTT CAAGGACAAATGCCAGTAATGCCTAACTCTGTACTCGTCCAGACATCCCA AATCTTCCCAAAGCCATTCTGATGTGAGACATGAGCTGCAGGCCTGGTTC ATAACTCATTAATAAGTGAGGGGATTGTCAACCTAGAGCACCAATGAATG ATCTAGCCCATGTAGCTCAATACTGGATTCACATTAGAATCACCTGGGGA GCTTTTTAAACTGCAGGTGCTCAGGCCCCACCCACTCCCAGAGATTCTTT TTAATTGGTCCAAGGTAGGACTTGACCATCTGGGCTTTTGTTTTTCTTTG TCTTTTCTTTTCTTTTCTTTTTTGGTTTAAGCCTCTCAAATGATTGCAAG ATACAAGTAGAATGGAGAAGCATTAATTCAGCCCTTCTAGGTTTGAGTTA CTCACTCTGCCCACCTCTAGAGCATTCTATGGCAGGGAGATTAAAGTGTC TCCTAACTATGCAGTCACTGATAAAATAAGAATTAGCACATTCTCACTAA ATGAACCTGACTTTAAGGCACAAGTATAGATTCCTGAAAAAGTTCTAAGC TGAACCTGTACAAATGGAATCATTTTAAACACACCATTTACTGTCACACA GACTCCCTGATACTTTAGTGTGTGCACATGTGAAACCATTTTTTTGAAGT ATGAAATAATTGCTCACCATTTTATCTATATAACTTTGGATTTTGGTGTC CTGAGCTCTCTAAAAACCGGTGTGTTTCTATAGTATTTGAATATTATGGG TAATAGTTTTGCAGAGTACAGTATGCTTATACTAAATTATAACAGCATAT CCTCGTGGTAACCCTATTTGATAGGCAGAAAGCTTGTACACTGACCCTGA AAAAGCCATCTGATAATTCTTGATTAAGCAAATTTAACTCCCTGTGTCCC AGGTGAGGGAGGCAGAACTGTTTGATTTTTACCTCCTTCCTTGCTTCCCT TATTCCCCAGGTTAGGCGAGCCAGAGGATTGTGCTGGCATCGTGTCTTTC CTGTGCTCTGAAGATGCCAGCTACATCACTGGGGAAACAGTGGTGGTGGG TGGAGGAACCCCGTCCCGCCTCTGAGGACCGGGAGACAGCCCACAGGCCA GAGTTGGGCTCTAGCTCCTGGTGCTGTTCCCGCATTCACCCACTGGCCTT TCCCACCTCTGCTCACCTTACTGTTCACCTCATCAAATCAGTTCTGCCCT GTGAAAAGATCCAGCCTTCCCTGCCGTCAAGGTGGCGTCTTACTCGGGAT TTCTGCTGTTGTTGTGGCCTTGGGTAAAGGCCTCCCCTGAGAACACAGGA CAGGCCTGCTGACAAGGCTGAGTCTACCTTGGCAAAGACCAAGATATTTT TTCCCGGGCCACTGGGGAATCTGAGGGGTGATGGGAGAGAAGGAACCTGG AGTGGAAGGAGCAGAGTTGCAAATTAACAACTTGCAAATGAGGTGCAAAT AAAATGCAGATGATTGCGCGGCTTTGAATCCAATTGACCTGTTCATTTCT CAGTGTTGGGTGCTTAGCTGAGCAGAGAGCAGAAGTCTATTCAGGCTGGA TCTCTGGATCCCCCAGCCCTCCTCCCTGTCTCCAGAACTTGAGCGTGATG TTCACGGGTGGAGGTGTCTGCAGAGCTGCCAGCTGGAAGGAAGGTGGCAC GGGAACTCCCAGGACGCCACGGGAATCCCCGAGGCAGCGCGAGCCCGGAG AGAGTGGGGAAGGATGAACTCTCTAACACCTCCCCGCCCCTTGCCTCCCA GATCAGGCCAGGTCCTCTCCCCGCATGGCCCTACGACCCGAGTTCCCTCC CGAGTCAGCAAGTACAAGCTGGATGGGTCCTGAGCCGGTGGGGAATAGAG AAAGGCCCTGCAAGGTACCCAGGCCCACAAACAAAAGCAATGGGTTCTGC CCACGGGCCCGAGGATTCAGTAGAAGGAAAGTGGGGACGCTGTCCCCCGC CCCAAAGGCACTGACACTGGGCGACACACGCTGAGCCTCTCACGCCGACG GGCCTCTCACGCCGGAGCCGGCAAGAAAGGTCGGCGCCAGCCCGCGGGCT CTCAGGAGGCTCGGCAGCGCGACGCGCATGCTCAGTCGGGCAGCTCTCCG GGCCGGCGTGGGAGCCCGCGCTCCAAGGCCCGGTGGGGGGAGGGGCGCTC ACGCAACCGCCACTGTCTGGAGCGGGCTCGCCTCTGCGGCAGCCCTCACC GCCCGGGCTTTACTGAAGCGGAGTCTAGCATGTGCGGCTGCTCCACAGCG GTGTGGGTGGCGGCGGCTCCTCTGCAGCAGCCTCGGCAGTAGGGGTCAGG GTGGCCAAGCCCACCGTGGAGCTCATCTGAGAGTTGTAAGGTACGGGACT GCCTCGGTCTTTGGGACGCCCCGTCTGGTAGCATCCCAGATCCAGCACGT TCCTTCCGGCCCTGCACCCCGGCCCGGTGCCTCACACCCCGCTACCCCAA GCATCCAGACTCTAAGGCAGCCCCTGCATCTCAGTCCTGACATCGCTGTC CCTGGAGCATCCTCCGCTGGAGCTGGAGCTTGACAGGTAGGGTGGAGAGG GCGGTGGGGGGCGGGGGGCCGAAACTGCATCAGTTAACGGGGCCGTGGGG GAGGGAAGTCCTCCATTGCTAAGGCTTCAGTAGGCGTTCTATGATCACAG TGTAAACAAAGCTGCAGGGAAGCTCTAACTGGGCGGAACCCACCGCAGCT CAGCAAGGCCTACTGCCTCTCCAGATTCCACCTCAGGGGCCAGGGCATAT CTGAACAAAAGGCAGCGGACAGCTTCTGCAGACTTCAGTGTCCTTGCCTG ACATCTCTAAAGACAGCAGTGGTTCTCCCAGCACGGAGTTCGTGCTCCGA TAACGGACAGACTGCCTCCCCGAGTGGGTCCCTGACCCCCATGTAGCTTG ACTGAAAAACACCGACCAGTAGGGGCGGAGAGACACCTCATACAGGTGGG TGCCCCTGTGGAACAAAGCTTCCAGAAGAAGGATCAGGCAGCAATATTTG CTGTTCTGCAGCCTCCTCTACTGATACCCAAGAAAATAAGGTCTGGAATG GACTTCCAGCAAACCCCCAAAGACCTGCAGCTGAGGGGCCTGTTAGAAGG AAAACTAACAAACAGAAAGGAATAGCATCAACATCAGCAAAGGACAGCAT CAACATCAGAATAGCAAAGGACATCCACACTAAAACCCCATCCATAGGTC ACCAACATCAAAGACCAAAGGTAGATAAAACCACAAAGATGGAGAGAAAC CAGAGCAGAAATGCTGAAACTTCCAGAAACCAGAACGTCTCTTCTCTTCC AAAGGAATACAAGTCCTCACCAGCAAGGGAACAAAACTGGATGGAGAATA AGTTTGATAACTTGACAGAAGTTAAGCTTCAGAAGGTCAGTAATAACAAA CTACTCCCAGCTAAAGGAACATGTTCTAACCCATTACAAGGAAGCTAAAA ACCTTCAAAAAAAGGTTAAACGAATGGCTAACTAGAATGAAGAATGTAGA GAAGAGCTTAAATGACCTGATGGAGCTGATAACCACAGTACAAGAACTTC ATGAAGGATACACAAGCTTCAATAGCTGATTCAATCAAGTGGAAGAAAGG ATATCAGTGATTGAAGATAAAATTAATGAAATAAAGTGAGAAGACAAGAT TAGAGACAAAAAAATAAAAAAGAAACATTCAAATTCAGGAAATACAGAGA ACATCACAAAGATACTCCTTGAGAAGAGCAACCCCAAGACACATAATTGT CAGACTCAGCAAGGTTAAGGGCAGCCAGAGAGAAAGGTTGGGTGACCAAC AAAGGGAAGCCCATCAGACTAACAGCAGATCTCTCAGCAGAAACCATACA AACCAGAAAAGAGTTGGGACCAATATTCAACATTCTGAAAGAAAAGATTT TTGAAACTAGAATTTCATATCCAGCCAAACTAAGCTTCGTATGTGAATGA GAAATAAAATCCTTTGCAGACAAGGAGATGCTGAGAGATTTTGTCACCAC CAGGCCTGCCTTACAATAAGAGCTCCTGAAGGAAGCACTAAACATGGAAA GGAACAACGGGTACCAGCCACTGCAAAAACATACGAAATTGTAAAGACCA TTGATGCTATGAAGAAACTGCATCAATTAATGGGCAAAATAACCAGCTAA CGTCATGACAGGATCAAATTCACATATAACAATACTAACCTTCAATGTAA ATGGGATAAATGCCCCAATTAAAAGACACAGACTGGCAAATTGGATAAAG AATCAAGACCCATATGGTGTGCTGTATTCAGGAGACCCATCTCACATGCA AAGACACACATAGGCCCAAAATGAAGGTATGTCTGGAATTGGTGGGTTCT TGGTCTCACTGACTTCAAGAATGAAGCTGCGGACCCTCGCGGTGAGTGTT ACAGTTCTTAAAGGCAGCGTGTCTGGAGTTTGTTCCTTCTGATGTTCAGA CATGTTCAGAGTTTCTTCCTTCTGGTGGGTTCGTGGTCTTGCTGGCTTCA GGAGTGAAGCTGCGGACCTTCGCAGTGAGTGTTACAGCTCTTAAGGCAGC ATGTCTGGAGTTGTTCGTTCCTCCTGTCTGGAGTTGTTCATTCCTCCTGG TGGGTTCGTGGCCTCACTGGCCTCAGGAGTGAAGCTGCAGACCTTCACGG TGAGTGTTACAGCTCATAAAGGCAGTGTGGACCCAAAGAGTGAGCAGCAG CAAGATTTATTGCAAAGAGTGAAAGAACAAAGCTTCCACAGTGTGGAAGG GGACCCAAGCGGGTTGCTACTGCTTGAAGGGGTGGCTTGCCCCTCCACAC CTGTGGGTATTTCTAGTCAGGTGGGACAAGAGACTGAGAAAGAGAAATAA GACACAGAGACAAAGTATAGAGAAACAACAGTGAGTCCAGGGGACCGGCG CTCAGCATACCAAGGACCTGCACCGGCACCGGTCTCTGAATTCCCTCAGT TTTTATTGATTATTATCGTCATTATTTCAGTAAAAAGGAATGTAGTAGGA GGGCAGGGTGATAATAAGGAGAAGGTCAGCAACAAACGTGAGCAATAGAA TCTACATCATAATTCAGTTCAAGGGAAGGTACTATGACTGGACGTGCACG TAAGCCAGATTTATGTTTCTCTCCACCCAAACATGTCGGTGGAGTAAAGA ATAACAAGGCAGCATTGCTGCAAACATGTCTCGCCTCCCACCATAGGGCA GTTTTTCTCTCATTTCAGAATTGAACAAATGTACAATCGGGATTTATACC GAGACATTTAGTTCCCATGGGCAGGCAGGAGACAGTGGCCTTCCTCTATC TCGACTGCAAGAGGCTTTCCTCTTTTACTAATCCACCAGAGCACAGACCC TTTATGGGTGTCAGGCTGGGGGACAGTCAGGTCTTTCTCATCCCATGAGG CCATATTTCAGACTATCACATGGGGAGAAACCTTGGACAATACCCTGCTT TCAAGGGCAGAGGTCCCTGTGGCTTTCTGCAGTGCATTGTGCCGCCAAGG CCACACCCACCCAGAACTCGTGCTGGCCTGCAAGTGCTGCGCACAGCCCC AGTTCCCGCCCATGCCTCTCCCTCCACACCTCCCTGCAATCTGAGGAAGC CAGCTCCAGTCTCAGCCAGCCCAGAAAGGGGCTCCCACAGTGCAGCGGCG GGCTGAAGGGCTCCTCAAGCGTGGCCAGAGTGGGTGCTGAGGCTGAGGAG GTGCCAAGAGTGAGCGAGGGCTGCCAGCACACTGCCACCTCTCAAAGGGA TGGAGGAAGATCTACAAAACAAATGGAAAGCAAAAAAAAGCAGGGATTGC AATCCTGGTCTCTGATAAAACAGACATTAAACCAACAAAGATGAAAGGAG ACAAAGAAGGCCATCACATAATGGTAAGGGGATCAGTTCAACAAGAAGAG CTAACTATCCTAAATATATATGCACCCAATACAGGAGAACCCAGATTCAT AAAGCAAGTTCTTAGAGACCTACAAAGAGGCTTAGACTCCCATACAATAG TAATGGGAGACAGTAACACCCCACTGTTAATATTAGACAGAAAACATGAC AAAATTAATAAGGATGTCCAGGACTTGAACTCAGCTCTAGACCAAGTAGG CCTAATACACATCTACAGAACTCTCCACCCCAAGTCAACACAATATACAT TCTTCTCAGCACCACATCACACTTATTCTAAAATTGACCACATAATTGGA AGTAAAACACTCCTCAGCAAATGCCAAAGAACAGCAATCACAACAAACTG TCTCCCAGACCACAGTGCAATCAAATTAGAACTCAGGACTGAAAAACTCA CTCAAAACTGCACAACTACATGGAAACTGAACAACCTGCTCCTGAATGAC TACTAGGTAAATAACAAACTGAAGGCAGAAATAAACATGGTCTTTGAAAC CAATGAGAACAAAGACACAGTGTAGCAGAATCTCTGGGACACATTTAAAA CAGTGTGTAGAGGGATATTTACAGCACTGAATA	G G	exon_loss_variant others(5): Show exon_loss_variant splice_acceptor_variant 3_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	HG00280.hp2 HG00558.hp1 HG00558.hp2 others(13): Show HG00280.hp2 HG00558.hp1 HG00558.hp2 HG00738.hp1 HG00738.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01975.hp2 HG02080.hp1 HG03669.hp2 HG03688.hp2 HG04228.hp2 NA18612.hp1 NA18973.hp2 NA18983.hp2	a0000 a0000	a0000c0004 a0000c0004	a0000c0004t0005 a0000c0004t0005	a0000c0004t0005g0022 a0000c0004t0005g0028 a0000c0004t0005g0093 others(11): Show a0000c0004t0005g0022 a0000c0004t0005g0028 a0000c0004t0005g0093 a0000c0004t0005g0096 a0000c0004t0005g0102 a0000c0004t0005g0117 a0000c0004t0005g0144 a0000c0004t0005g0145 a0000c0004t0005g0157 a0000c0004t0005g0158 a0000c0004t0005g0160 a0000c0004t0005g0162 a0000c0004t0005g0174 a0000c0004t0005g0182	16	267	0.0599	-6782	c.722 others(13): Show c.722+232_*5408del		DHRS4	ENSG00000157326.19	transcript	ENST00000313250.10	protein_coding	8/8					chr14	TogoVar
DHRS4_chr14_23948770_23974279	23968753	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	267	0.0038	0	c.723 others(5): Show c.723-4C>A		DHRS4	ENSG00000157326.19	transcript	ENST00000313250.10	protein_coding	7/7					chr14	TogoVar
DHRS7C_chr17_9766438_9796592	9772921	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0137 a0001c0014t0001g0137	1	424	0.0024	0	c.573 others(3): Show c.573C>T	p.Tyr others(6): Show p.Tyr191Tyr	DHRS7C	ENSG00000184544.12	transcript	ENST00000571134.2	protein_coding	5/6	881/1294	573/936	191/311		chr17	TogoVar
DHRS7_chr14_60139119_60170398	60150194	G G	GGC GGC	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18939.hp2 NA18940.hp1 NA18941.hp2 others(22): Show NA18939.hp2 NA18940.hp1 NA18941.hp2 NA18945.hp2 NA18960.hp1 NA18964.hp1 NA18975.hp1 NA18977.hp1 NA18983.hp2 NA18984.hp1 NA18988.hp1 NA18992.hp2 NA18995.hp2 NA18999.hp2 NA19004.hp2 NA19012.hp1 NA19055.hp1 NA19065.hp1 NA19068.hp1 NA19070.hp2 NA19079.hp1 NA19081.hp2 NA19085.hp1 NA19086.hp2 NA19088.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0003 a0006c0007t0003 a0001c0001t0003 a0006c0007t0003	a0001c0001t0003g0004 a0001c0001t0003g0017 a0001c0001t0003g0087 others(2): Show a0001c0001t0003g0004 a0001c0001t0003g0017 a0001c0001t0003g0087 a0001c0001t0003g0112 a0006c0007t0003g0086	25	388	0.0644	2	c.634 others(13): Show c.634-8_634-7insGC		DHRS7	ENSG00000100612.14	transcript	ENST00000557185.6	protein_coding	4/6					chr14	TogoVar
DHRS7_chr14_60139119_60170398	60150194	G G	GGCA GGCA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp2 HG00639.hp1 HG00642.hp1 others(78): Show HG00323.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG01081.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp1 HG01884.hp1 HG01981.hp1 HG02055.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02602.hp1 HG02622.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02896.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03453.hp1 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp2 HG04204.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18941.hp1 NA18944.hp1 NA18946.hp2 NA18948.hp2 NA18962.hp2 NA18978.hp2 NA19002.hp2 NA19043.hp1 NA19055.hp2 NA19065.hp2 NA19066.hp2 NA19075.hp1 NA19075.hp2 NA19082.hp2 NA20129.hp2 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0005 a0001c0001 a0002c0003 a0004c0005	a0001c0001t0002 a0001c0001t0006 a0002c0003t0002 others(1): Show a0001c0001t0002 a0001c0001t0006 a0002c0003t0002 a0004c0005t0002	a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0025 others(43): Show a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0039 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0053 a0001c0001t0002g0062 a0001c0001t0002g0106 a0001c0001t0002g0124 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0006g0147 a0002c0003t0002g0119 a0004c0005t0002g0050 a0004c0005t0002g0051	81	388	0.2088	3	c.634 others(14): Show c.634-8_634-7insTGC		DHRS7	ENSG00000100612.14	transcript	ENST00000557185.6	protein_coding	4/6					chr14	TogoVar
DHRS7_chr14_60139119_60170398	60150194	G G	GGCAA GGCAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00558.hp2 HG00609.hp2 HG01243.hp1 others(38): Show HG00558.hp2 HG00609.hp2 HG01243.hp1 HG01361.hp1 HG02015.hp1 HG02040.hp1 HG02071.hp2 HG02080.hp1 HG02132.hp1 HG02165.hp2 HG02559.hp2 HG02572.hp1 HG02895.hp1 HG03704.hp1 HG04228.hp2 NA18942.hp1 NA18943.hp1 NA18950.hp1 NA18961.hp1 NA18962.hp1 NA18964.hp2 NA18966.hp1 NA18968.hp1 NA18979.hp1 NA18980.hp2 NA18986.hp1 NA18988.hp2 NA18990.hp2 NA18992.hp1 NA18994.hp2 NA18998.hp2 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19057.hp1 NA19080.hp1 NA19081.hp1 NA19083.hp2 NA19084.hp2 NA19090.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0040 a0001c0001t0002g0045 others(15): Show a0001c0001t0002g0003 a0001c0001t0002g0040 a0001c0001t0002g0045 a0001c0001t0002g0052 a0001c0001t0002g0061 a0001c0001t0002g0104 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0125 a0001c0001t0002g0143 a0001c0001t0002g0149	41	388	0.1057	4	c.634 others(15): Show c.634-8_634-7insTTGC		DHRS7	ENSG00000100612.14	transcript	ENST00000557185.6	protein_coding	4/6					chr14	TogoVar
DHRS7_chr14_60139119_60170398	60150194	G G	GGCAAA GGCAAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02257.hp1 HG02486.hp2 HG02615.hp2 others(4): Show HG02257.hp1 HG02486.hp2 HG02615.hp2 HG03453.hp2 HG03471.hp1 NA19078.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0041 a0001c0001t0002g0105 a0001c0002t0002g0116 others(3): Show a0001c0001t0002g0041 a0001c0001t0002g0105 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0126	7	388	0.0180	5	c.634 others(16): Show c.634-8_634-7insTTTGC		DHRS7	ENSG00000100612.14	transcript	ENST00000557185.6	protein_coding	4/6					chr14	TogoVar

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