Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
DEPDC1_chr1_68469152_68502082	68496944	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19070.hp1 NA19070.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0016 a0005c0010t0016	a0005c0010t0016g0055 a0005c0010t0016g0055	1	364	0.0028	0	c.48+ others(4): Show c.48+8A>C		DEPDC1	ENSG00000024526.17	transcript	ENST00000456315.7	protein_coding	1/11						chr1	TogoVar
DEPDC1_chr1_68469152_68502082	68496949	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19070.hp1 NA19070.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0016 a0005c0010t0016	a0005c0010t0016g0055 a0005c0010t0016g0055	1	364	0.0028	0	c.48+ others(4): Show c.48+3A>C		DEPDC1	ENSG00000024526.17	transcript	ENST00000456315.7	protein_coding	1/11						chr1	TogoVar
DEPDC4_chr12_100235062_100272079	100241849	GA GA	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00639.hp1 HG00639.hp2 HG00741.hp1 others(58): Show HG00639.hp1 HG00639.hp2 HG00741.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03834.hp1 HG03942.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18952.hp1 NA18973.hp2 NA19000.hp2 NA19030.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0002c0016 a0010c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 a0001c0003t0002 a0002c0002t0001 a0002c0002t0005 a0002c0016t0001 a0010c0015t0001	a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 others(56): Show a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0101 a0001c0001t0001g0156 a0001c0001t0001g0243 a0001c0001t0002g0031 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0102 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0309 a0001c0001t0003g0096 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0245 a0001c0001t0007g0014 a0001c0001t0007g0173 a0001c0001t0009g0103 a0001c0001t0009g0104 a0001c0001t0009g0105 a0001c0001t0011g0106 a0001c0001t0011g0107 a0001c0001t0011g0108 a0001c0001t0015g0032 a0001c0003t0002g0310 a0001c0003t0002g0311 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0303 a0002c0002t0001g0304 a0002c0002t0005g0060 a0002c0002t0005g0061 a0002c0002t0005g0062 a0002c0002t0005g0063 a0002c0002t0005g0255 a0002c0002t0005g0256 a0002c0002t0005g0257 a0002c0016t0001g0312 a0010c0015t0001g0064	61	358	0.1704	-1	c.47 others(6): Show c.47-5delT		DEPDC4	ENSG00000166153.17	transcript	ENST00000550587.6	protein_coding	9/9						chr12	TogoVar
DEPDC4_chr12_100235062_100272079	100241849	GAA GAA	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00280.hp1 HG00544.hp2 others(43): Show HG00140.hp1 HG00280.hp1 HG00544.hp2 HG00673.hp2 HG01070.hp1 HG01074.hp2 HG01109.hp1 HG01167.hp1 HG01243.hp1 HG01256.hp1 HG01346.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01928.hp2 HG02258.hp1 HG02486.hp1 HG02602.hp1 HG02717.hp1 HG02735.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG03098.hp1 HG03195.hp1 HG03209.hp2 HG03453.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03942.hp2 HG04184.hp1 HG06807.hp2 NA18906.hp2 NA18942.hp1 NA18960.hp2 NA18981.hp1 NA19043.hp2 NA19078.hp2 NA20129.hp2 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0008 a0011	a0001c0001 a0001c0005 a0002c0002 others(3): Show a0001c0001 a0001c0005 a0002c0002 a0003c0004 a0008c0009 a0011c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0005t0001 a0002c0002t0001 a0002c0002t0010 a0002c0002t0018 a0003c0004t0001 a0003c0004t0019 a0008c0009t0006 a0011c0007t0006	a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0068 others(37): Show a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0164 a0001c0001t0001g0244 a0001c0001t0001g0302 a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0099 a0001c0001t0006g0246 a0001c0001t0006g0247 a0001c0001t0006g0248 a0001c0001t0008g0010 a0001c0001t0008g0076 a0001c0001t0008g0077 a0001c0005t0001g0027 a0002c0002t0001g0011 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0010g0048 a0002c0002t0010g0049 a0002c0002t0010g0050 a0002c0002t0018g0093 a0003c0004t0001g0084 a0003c0004t0019g0082 a0008c0009t0006g0249 a0011c0007t0006g0100	46	358	0.1285	-2	c.47 others(13): Show c.47-6_*47-5delTT		DEPDC4	ENSG00000166153.17	transcript	ENST00000550587.6	protein_coding	9/9						chr12	TogoVar
DEPDC4_chr12_100235062_100272079	100241853	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00639.hp1 HG00639.hp2 HG00741.hp1 others(4): Show HG00639.hp1 HG00639.hp2 HG00741.hp1 HG02809.hp1 HG03098.hp2 HG03195.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0060 a0002c0002t0005g0061 a0002c0002t0005g0062 others(4): Show a0002c0002t0005g0060 a0002c0002t0005g0061 a0002c0002t0005g0062 a0002c0002t0005g0063 a0002c0002t0005g0255 a0002c0002t0005g0256 a0002c0002t0005g0257	7	358	0.0196	0	c.47 others(5): Show c.47-8T>C		DEPDC4	ENSG00000166153.17	transcript	ENST00000550587.6	protein_coding	9/9						chr12	TogoVar
DEPDC5_chr22_31749019_31913033	31809646	A A	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00738.hp1 HG01070.hp2 HG01074.hp2 others(24): Show HG00738.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01167.hp2 HG01192.hp2 HG01255.hp1 HG01891.hp1 HG01993.hp2 HG02004.hp1 HG02129.hp2 HG02148.hp1 HG02257.hp1 HG02273.hp2 HG02615.hp1 HG02683.hp2 HG02723.hp1 HG02896.hp2 HG02965.hp2 HG03139.hp1 HG03688.hp1 HG03710.hp2 HG03831.hp1 HG06807.hp1 NA18962.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0018 a0001c0002 a0001c0008 a0001c0018	a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 others(4): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0002t0007 a0001c0008t0001 a0001c0008t0003 a0001c0018t0003	a0001c0002t0001g0022 a0001c0002t0001g0041 a0001c0002t0001g0189 others(24): Show a0001c0002t0001g0022 a0001c0002t0001g0041 a0001c0002t0001g0189 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0003g0003 a0001c0002t0003g0177 a0001c0002t0003g0179 a0001c0002t0003g0180 a0001c0002t0003g0181 a0001c0002t0003g0182 a0001c0002t0003g0185 a0001c0002t0003g0186 a0001c0002t0003g0188 a0001c0002t0006g0171 a0001c0002t0006g0172 a0001c0002t0006g0173 a0001c0002t0006g0190 a0001c0002t0006g0193 a0001c0002t0006g0194 a0001c0002t0006g0195 a0001c0002t0006g0196 a0001c0002t0007g0170 a0001c0008t0001g0183 a0001c0008t0003g0178 a0001c0008t0003g0184 a0001c0018t0003g0187	27	204	0.1324	0	c.132 others(4): Show c.1323A>C	p.Thr others(6): Show p.Thr441Thr	DEPDC5	ENSG00000100150.20	transcript	ENST00000651528.2	protein_coding	19/43	1529/6554	1323/4812	441/1603			chr22	TogoVar
DEPDC5_chr22_31749019_31913033	31821635	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03688.hp2 HG03942.hp2 HG03688.hp2 HG03942.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0168 a0001c0012t0001g0169 a0001c0012t0001g0168 a0001c0012t0001g0169	2	204	0.0098	0	c.200 others(4): Show c.2004A>G	p.Gly others(6): Show p.Gly668Gly	DEPDC5	ENSG00000100150.20	transcript	ENST00000651528.2	protein_coding	23/43	2210/6554	2004/4812	668/1603			chr22	TogoVar
DEPDC7_chr11_33010878_33038582	33031374	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18986.hp1 NA19062.hp1 NA18986.hp1 NA19062.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0081 a0001c0002t0002g0082	2	422	0.0047	0	c.783 others(5): Show c.783-4A>G		DEPDC7	ENSG00000121690.11	transcript	ENST00000241051.8	protein_coding	4/8						chr11	TogoVar
DEPTOR_chr8_119868722_120055918	120001505	G G	GT GT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp2 HG01167.hp2 HG01169.hp2 others(26): Show HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01255.hp2 HG01258.hp1 HG01515.hp1 HG01517.hp2 HG02257.hp1 HG02280.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02647.hp2 HG02717.hp1 HG02809.hp2 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp2 HG03486.hp1 HG03579.hp2 HG03710.hp2 NA18522.hp2 NA19030.hp2 NA20129.hp1 NA21309.hp1	a0002 a0004 a0002 a0004	a0002c0001 a0002c0005 a0004c0006 others(1): Show a0002c0001 a0002c0005 a0004c0006 a0004c0010	a0002c0001t0001 a0002c0001t0003 a0002c0001t0010 others(4): Show a0002c0001t0001 a0002c0001t0003 a0002c0001t0010 a0002c0005t0001 a0002c0005t0003 a0004c0006t0001 a0004c0010t0001	a0002c0001t0001g0131 a0002c0001t0003g0001 a0002c0001t0003g0002 others(26): Show a0002c0001t0001g0131 a0002c0001t0003g0001 a0002c0001t0003g0002 a0002c0001t0003g0006 a0002c0001t0003g0009 a0002c0001t0003g0010 a0002c0001t0003g0012 a0002c0001t0003g0014 a0002c0001t0003g0015 a0002c0001t0003g0016 a0002c0001t0003g0018 a0002c0001t0003g0019 a0002c0001t0003g0026 a0002c0001t0003g0027 a0002c0001t0003g0028 a0002c0001t0003g0030 a0002c0001t0003g0031 a0002c0001t0003g0055 a0002c0001t0003g0141 a0002c0001t0010g0021 a0002c0001t0010g0022 a0002c0001t0010g0023 a0002c0001t0010g0057 a0002c0005t0001g0088 a0002c0005t0003g0017 a0002c0005t0003g0093 a0004c0006t0001g0007 a0004c0010t0001g0063 a0004c0010t0001g0064	29	198	0.1465	1	c.605 others(6): Show c.605-9dupT		DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr8	TogoVar
DEPTOR_chr8_119868722_120055918	120006801	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp2 HG01167.hp2 HG01169.hp2 others(28): Show HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01243.hp1 HG01255.hp2 HG01258.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG02257.hp1 HG02280.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02647.hp2 HG02717.hp1 HG02809.hp2 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp2 HG03486.hp1 HG03579.hp2 HG03710.hp2 NA18522.hp2 NA19030.hp2 NA20129.hp1 NA21309.hp1	a0002 a0004 a0002 a0004	a0002c0001 a0002c0005 a0004c0006 others(1): Show a0002c0001 a0002c0005 a0004c0006 a0004c0010	a0002c0001t0001 a0002c0001t0003 a0002c0001t0010 others(4): Show a0002c0001t0001 a0002c0001t0003 a0002c0001t0010 a0002c0005t0001 a0002c0005t0003 a0004c0006t0001 a0004c0010t0001	a0002c0001t0001g0005 a0002c0001t0001g0131 a0002c0001t0003g0001 others(28): Show a0002c0001t0001g0005 a0002c0001t0001g0131 a0002c0001t0003g0001 a0002c0001t0003g0002 a0002c0001t0003g0006 a0002c0001t0003g0009 a0002c0001t0003g0010 a0002c0001t0003g0012 a0002c0001t0003g0014 a0002c0001t0003g0015 a0002c0001t0003g0016 a0002c0001t0003g0018 a0002c0001t0003g0019 a0002c0001t0003g0026 a0002c0001t0003g0027 a0002c0001t0003g0028 a0002c0001t0003g0030 a0002c0001t0003g0031 a0002c0001t0003g0055 a0002c0001t0003g0141 a0002c0001t0010g0021 a0002c0001t0010g0022 a0002c0001t0010g0023 a0002c0001t0010g0057 a0002c0005t0001g0088 a0002c0005t0003g0017 a0002c0005t0003g0093 a0002c0005t0003g0191 a0004c0006t0001g0007 a0004c0010t0001g0063 a0004c0010t0001g0064	31	198	0.1566	0	c.926 others(5): Show c.926-4C>A		DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	6/8						chr8	TogoVar
DERA_chr12_15906332_16042381	15962808	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01070.hp2 HG01074.hp2 HG01243.hp2 others(2): Show HG01070.hp2 HG01074.hp2 HG01243.hp2 HG01496.hp1 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0191 others(2): Show a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0251	5	258	0.0194	0	c.374 others(5): Show c.374-5A>C		DERA	ENSG00000023697.13	transcript	ENST00000428559.7	protein_coding	4/8						chr12	TogoVar
DERA_chr12_15906332_16042381	16032529	CTT CTT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00280.hp2 HG00438.hp2 others(60): Show HG00280.hp1 HG00280.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00735.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01123.hp1 HG01256.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01516.hp1 HG01884.hp1 HG01934.hp2 HG01978.hp1 HG01981.hp1 HG02080.hp1 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02273.hp2 HG02300.hp2 HG02602.hp1 HG02602.hp2 HG02809.hp1 HG02895.hp2 HG03239.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03669.hp1 HG03688.hp2 HG03834.hp1 HG03834.hp2 NA18747.hp2 NA18942.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18978.hp2 NA18998.hp2 NA19000.hp2 NA19006.hp2 NA19007.hp2 NA19043.hp2 NA19060.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0031 a0001c0001t0001g0045 a0001c0001t0001g0047 others(60): Show a0001c0001t0001g0031 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0093 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0212 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0003c0004t0001g0225	63	258	0.2442	-2	c.638 others(13): Show c.638-9_638-8delTT		DERA	ENSG00000023697.13	transcript	ENST00000428559.7	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr12	TogoVar
DERL1_chr8_123008170_123047302	123015589	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	414	0.0024	0	c.618 others(5): Show c.618-4C>T		DERL1	ENSG00000136986.10	transcript	ENST00000259512.9	protein_coding	7/7						chr8	TogoVar
DERL2_chr17_5466254_5491178	5482888	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	428	0.0023	0	c.160 others(5): Show c.160-6T>A		DERL2	ENSG00000072849.11	transcript	ENST00000158771.9	protein_coding	2/6						chr17	TogoVar
DERL3_chr22_23829503_23844006	23834490	GCAACAGG others(16): Show GCAACAGGTCATGTTCAATTTCTT	G G	splice_region_variant others(1): Show splice_region_variant downstream_gene_variant	LOW	HG00733.hp2 HG00735.hp1 HG01099.hp2 others(51): Show HG00733.hp2 HG00735.hp1 HG01099.hp2 HG01106.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01346.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01934.hp2 HG02074.hp2 HG02109.hp2 HG02132.hp2 HG02155.hp2 HG02257.hp1 HG02683.hp2 HG02717.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp2 HG03453.hp1 HG03654.hp2 HG03688.hp2 HG03831.hp2 HG03942.hp2 NA18612.hp2 NA18906.hp2 NA18949.hp1 NA18956.hp2 NA18962.hp1 NA18983.hp1 NA18999.hp2 NA19001.hp1 NA19030.hp1 NA19068.hp1 NA19079.hp1 NA19089.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0008 a0002c0002t0021 a0002c0002t0031 others(5): Show a0002c0002t0008 a0002c0002t0021 a0002c0002t0031 a0003c0003t0005 a0003c0003t0009 a0003c0003t0014 a0003c0003t0025 a0003c0003t0026	a0002c0002t0008g0009 a0002c0002t0021g0031 a0002c0002t0031g0032 others(7): Show a0002c0002t0008g0009 a0002c0002t0021g0031 a0002c0002t0031g0032 a0003c0003t0005g0005 a0003c0003t0005g0012 a0003c0003t0005g0049 a0003c0003t0009g0014 a0003c0003t0014g0023 a0003c0003t0025g0047 a0003c0003t0026g0048	54	431	0.1253	-23	c.23 others(34): Show c.2356_*2378delAAGAAATTGAACATGACCTGTTG		DERL3	ENSG00000099958.15	transcript	ENST00000318109.12	protein_coding	7/7				12		chr22	TogoVar
DERL3_chr22_23829503_23844006	23837862	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01070.hp1 HG01433.hp1 HG02055.hp2 others(24): Show HG01070.hp1 HG01433.hp1 HG02055.hp2 HG02109.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02622.hp1 HG02717.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp2 NA18906.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0010 a0002c0002 a0005c0010	a0002c0002t0004 a0002c0002t0006 a0002c0002t0010 others(5): Show a0002c0002t0004 a0002c0002t0006 a0002c0002t0010 a0002c0002t0011 a0002c0002t0012 a0002c0002t0017 a0002c0002t0018 a0005c0010t0006	a0002c0002t0004g0037 a0002c0002t0006g0008 a0002c0002t0010g0017 others(5): Show a0002c0002t0004g0037 a0002c0002t0006g0008 a0002c0002t0010g0017 a0002c0002t0011g0021 a0002c0002t0012g0022 a0002c0002t0017g0038 a0002c0002t0018g0039 a0005c0010t0006g0053	27	431	0.0627	0	c.328 others(5): Show c.328-8T>A		DERL3	ENSG00000099958.15	transcript	ENST00000318109.12	protein_coding	4/6						chr22	TogoVar
DERPC_chr16_69113010_69137588	69121436	C C	G G	splice_region_variant splice_region_variant	LOW	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0198 a0001c0001t0003g0198	1	346	0.0029	0	c.-22 others(4): Show c.-222G>C		DERPC	ENSG00000286140.2	transcript	ENST00000519520.7	protein_coding	2/3						chr16	TogoVar
DES_chr2_219413377_219431734	219421342	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02258.hp2 HG02486.hp1 HG02896.hp2 others(7): Show HG02258.hp2 HG02486.hp1 HG02896.hp2 HG02970.hp1 HG03130.hp1 HG03195.hp1 HG03471.hp2 HG03540.hp2 HG06807.hp2 NA18906.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0004 a0001c0004t0002g0034 a0001c0004t0002g0004 a0001c0004t0002g0034	10	376	0.0266	0	c.102 others(4): Show c.1026C>T	p.Asn others(6): Show p.Asn342Asn	DES	ENSG00000175084.13	transcript	ENST00000373960.4	protein_coding	6/9	1112/2243	1026/1413	342/470			chr2	TogoVar
DEUP1_chr11_93325742_93443470	93355547	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02818.hp1 HG03041.hp1 HG02818.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0088 a0002c0002t0003g0089 a0002c0002t0003g0088 a0002c0002t0003g0089	2	368	0.0054	0	c.201 others(5): Show c.201+5T>A		DEUP1	ENSG00000165325.15	transcript	ENST00000298050.9	protein_coding	3/13						chr11	TogoVar
DEUP1_chr11_93325742_93443470	93371283	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18981.hp2 NA18981.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0237 a0003c0003t0001g0237	1	368	0.0027	0	c.789 others(5): Show c.789+3G>C		DEUP1	ENSG00000165325.15	transcript	ENST00000298050.9	protein_coding	7/13						chr11	TogoVar
DGAT1_chr8_144309584_144331852	144318750	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0049 a0001c0005t0001g0049	1	370	0.0027	0	c.417 others(3): Show c.417G>A	p.Ala others(6): Show p.Ala139Ala	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding	5/17	633/3653	417/1467	139/488			chr8	TogoVar
DGAT1_chr8_144309584_144331852	144318923	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0086 a0001c0001t0037g0086	1	370	0.0027	0	c.330 others(5): Show c.330-3C>A		DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding	3/16						chr8	TogoVar
DGAT1_chr8_144309584_144331852	144319071	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0093	1	370	0.0027	0	c.289 others(5): Show c.289-3C>T		DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding	2/16						chr8	TogoVar
DGAT2L6_chrX_70172483_70210704	70199264	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	274	0.0037	0	c.86- others(4): Show c.86-7T>C		DGAT2L6	ENSG00000184210.6	transcript	ENST00000333026.4	protein_coding	1/6						chrX	TogoVar
DGAT2_chr11_75763778_75806534	75801533	T T	C C	splice_region_variant splice_region_variant	LOW	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0003 a0001c0001t0011g0003	1	324	0.0031	0	c.10 others(5): Show c.1025T>C		DGAT2	ENSG00000062282.15	transcript	ENST00000228027.12	protein_coding	8/8						chr11	TogoVar
DGCR2_chr22_19031286_19127412	19063195	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01346.hp2 HG02622.hp1 HG01346.hp2 HG02622.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0043 a0002c0005t0044 a0002c0005t0043 a0002c0005t0044	a0002c0005t0043g0138 a0002c0005t0044g0137 a0002c0005t0043g0138 a0002c0005t0044g0137	2	344	0.0058	0	c.625 others(5): Show c.625+7C>G		DGCR2	ENSG00000070413.21	transcript	ENST00000263196.12	protein_coding	5/9						chr22	TogoVar
DGCR6_chr22_18901320_18917088	18906482	C C	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00735.hp1 HG02129.hp1 HG02602.hp2 others(9): Show HG00735.hp1 HG02129.hp1 HG02602.hp2 HG03209.hp1 HG04115.hp2 HG04228.hp1 NA18950.hp2 NA18973.hp2 NA18995.hp1 NA19077.hp2 NA20905.hp1 NA21309.hp1	a0001 a0008 a0001 a0008	a0001c0005 a0008c0010 a0001c0005 a0008c0010	a0001c0005t0003 a0008c0010t0001 a0001c0005t0003 a0008c0010t0001	a0001c0005t0003g0008 a0008c0010t0001g0077 a0001c0005t0003g0008 a0008c0010t0001g0077	12	413	0.0291	0	c.108 others(3): Show c.108C>G	p.Pro others(5): Show p.Pro36Pro	DGCR6	ENSG00000183628.14	transcript	ENST00000331444.12	protein_coding	1/5	163/1117	108/663	36/220			chr22	TogoVar
DGCR6_chr22_18901320_18917088	18910882	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	413	0.0024	0	c.373 others(5): Show c.373-6C>T		DGCR6	ENSG00000183628.14	transcript	ENST00000331444.12	protein_coding	3/4						chr22	TogoVar
DGCR6_chr22_18901320_18917088	18910890	G G	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0005 a0001c0013t0001g0005	1	413	0.0024	0	c.375 others(3): Show c.375G>C	p.Ala others(6): Show p.Ala125Ala	DGCR6	ENSG00000183628.14	transcript	ENST00000331444.12	protein_coding	4/5	430/1117	375/663	125/220			chr22	TogoVar
DGCR6_chr22_18901320_18917088	18912086	G G	A A	splice_region_variant splice_region_variant	LOW	HG02622.hp1 HG03098.hp2 HG02622.hp1 HG03098.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0008 a0001c0008t0008	a0001c0008t0008g0032 a0001c0008t0008g0032	2	413	0.0048	0	c.39 others(4): Show c.397G>A		DGCR6	ENSG00000183628.14	transcript	ENST00000331444.12	protein_coding	5/5						chr22	TogoVar
DGKA_chr12_55926162_55959023	55939536	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG06807.hp2 NA18906.hp2 NA21309.hp2 HG06807.hp2 NA18906.hp2 NA21309.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0005 a0001c0005t0002 a0001c0005t0005	a0001c0005t0002g0119 a0001c0005t0002g0120 a0001c0005t0005g0118 a0001c0005t0002g0119 a0001c0005t0002g0120 a0001c0005t0005g0118	3	328	0.0092	0	c.709 others(5): Show c.709+7A>G		DGKA	ENSG00000065357.20	transcript	ENST00000331886.10	protein_coding	9/23						chr12	TogoVar
DGKA_chr12_55926162_55959023	55941323	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(266): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp1 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0002c0007 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0005t0002 a0001c0005t0005 a0001c0006t0001 a0002c0007t0001 a0003c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(106): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0112 a0001c0001t0002g0009 a0001c0001t0002g0041 a0001c0001t0002g0121 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0004g0011 a0001c0003t0001g0005 a0001c0003t0001g0019 a0001c0003t0001g0020 a0001c0003t0001g0025 a0001c0003t0001g0026 a0001c0003t0001g0043 a0001c0003t0001g0077 a0001c0003t0002g0018 a0001c0003t0002g0122 a0001c0003t0002g0123 a0001c0003t0002g0127 a0001c0004t0001g0013 a0001c0004t0001g0044 a0001c0005t0002g0119 a0001c0005t0002g0120 a0001c0005t0005g0118 a0001c0006t0001g0004 a0002c0007t0001g0001 a0003c0008t0001g0001	269	328	0.8201	0	c.117 others(4): Show c.1173A>G	p.Gln others(6): Show p.Gln391Gln	DGKA	ENSG00000065357.20	transcript	ENST00000331886.10	protein_coding	14/24	1437/2727	1173/2208	391/735			chr12	TogoVar
DGKA_chr12_55926162_55959023	55942170	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	328	0.0031	0	c.133 others(6): Show c.1337-4G>A		DGKA	ENSG00000065357.20	transcript	ENST00000331886.10	protein_coding	16/23						chr12	TogoVar
DGKA_chr12_55926162_55959023	55951624	T T	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01167.hp1 HG01169.hp1 HG01433.hp1 others(35): Show HG01167.hp1 HG01169.hp1 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02818.hp2 HG02965.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG06807.hp2 NA18906.hp2 NA19043.hp1 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0005 a0001c0003 a0001c0004 a0001c0005	a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 others(2): Show a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0005t0002 a0001c0005t0005	a0001c0003t0001g0005 a0001c0003t0001g0019 a0001c0003t0001g0020 others(13): Show a0001c0003t0001g0005 a0001c0003t0001g0019 a0001c0003t0001g0020 a0001c0003t0001g0025 a0001c0003t0001g0026 a0001c0003t0001g0043 a0001c0003t0001g0077 a0001c0003t0002g0018 a0001c0003t0002g0122 a0001c0003t0002g0123 a0001c0003t0002g0127 a0001c0004t0001g0013 a0001c0004t0001g0044 a0001c0005t0002g0119 a0001c0005t0002g0120 a0001c0005t0005g0118	38	328	0.1159	0	c.142 others(4): Show c.1428T>G	p.Gly others(6): Show p.Gly476Gly	DGKA	ENSG00000065357.20	transcript	ENST00000331886.10	protein_coding	18/24	1692/2727	1428/2208	476/735			chr12	TogoVar
DGKB_chr7_14140049_14907751	14718538	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02280.hp2 HG02818.hp1 HG02280.hp2 HG02818.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0003 a0002c0005t0011 a0001c0002t0003 a0002c0005t0011	a0001c0002t0003g0081 a0002c0005t0011g0079 a0001c0002t0003g0081 a0002c0005t0011g0079	2	148	0.0135	0	c.466 others(5): Show c.466+4T>C		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	6/25						chr7	TogoVar
DGKB_chr7_14140049_14907751	14736042	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0039 a0001c0016t0001g0039	1	148	0.0068	0	c.321 others(3): Show c.321C>T	p.Gly others(6): Show p.Gly107Gly	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	5/26	668/6841	321/2412	107/803			chr7	TogoVar
DGKB_chr7_14140049_14907751	14736196	TG TG	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00597.hp1 HG00609.hp1 others(54): Show HG00280.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00741.hp2 HG01074.hp1 HG01081.hp2 HG01109.hp1 HG01167.hp1 HG01255.hp1 HG01515.hp1 HG01515.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02523.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02922.hp2 HG02965.hp1 HG03453.hp1 HG03831.hp1 HG03942.hp1 HG04115.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18612.hp1 NA18906.hp1 NA18960.hp1 NA18968.hp2 NA18984.hp2 NA18988.hp1 NA18993.hp1 NA18993.hp2 NA19002.hp1 NA19030.hp2 NA19057.hp2 NA19081.hp1 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009 a0002c0005 a0002c0007 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 a0001c0001t0020 a0001c0001t0025 a0001c0001t0028 a0001c0001t0039 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0012 a0001c0002t0031 a0001c0003t0002 a0001c0003t0003 a0001c0003t0010 a0001c0003t0036 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0005 a0001c0009t0002 a0002c0005t0011 a0002c0007t0006 a0004c0011t0002	a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 others(54): Show a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0091 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0129 a0001c0001t0002g0025 a0001c0001t0002g0036 a0001c0001t0002g0048 a0001c0001t0002g0099 a0001c0001t0002g0106 a0001c0001t0002g0111 a0001c0001t0002g0119 a0001c0001t0002g0143 a0001c0001t0003g0051 a0001c0001t0007g0121 a0001c0001t0008g0123 a0001c0001t0016g0042 a0001c0001t0020g0097 a0001c0001t0025g0021 a0001c0001t0028g0095 a0001c0001t0039g0022 a0001c0002t0001g0070 a0001c0002t0001g0090 a0001c0002t0002g0020 a0001c0002t0002g0065 a0001c0002t0002g0074 a0001c0002t0002g0102 a0001c0002t0002g0107 a0001c0002t0003g0001 a0001c0002t0003g0069 a0001c0002t0003g0081 a0001c0002t0012g0046 a0001c0002t0012g0120 a0001c0002t0031g0008 a0001c0003t0002g0028 a0001c0003t0002g0116 a0001c0003t0003g0056 a0001c0003t0010g0089 a0001c0003t0036g0050 a0001c0004t0001g0032 a0001c0004t0001g0040 a0001c0004t0001g0071 a0001c0004t0001g0085 a0001c0004t0001g0103 a0001c0004t0001g0127 a0001c0004t0002g0112 a0001c0004t0003g0049 a0001c0004t0003g0067 a0001c0004t0005g0023 a0001c0009t0002g0082 a0002c0005t0011g0079 a0002c0007t0006g0030 a0002c0007t0006g0041 a0004c0011t0002g0110	57	148	0.3851	-1	c.169 others(6): Show c.169-3delC		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	4/25						chr7	TogoVar
DGKB_chr7_14140049_14907751	14736199	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00597.hp1 HG00609.hp1 others(54): Show HG00280.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00741.hp2 HG01074.hp1 HG01081.hp2 HG01109.hp1 HG01167.hp1 HG01255.hp1 HG01515.hp1 HG01515.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02523.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02922.hp2 HG02965.hp1 HG03453.hp1 HG03831.hp1 HG03942.hp1 HG04115.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18612.hp1 NA18906.hp1 NA18960.hp1 NA18968.hp2 NA18984.hp2 NA18988.hp1 NA18993.hp1 NA18993.hp2 NA19002.hp1 NA19030.hp2 NA19057.hp2 NA19081.hp1 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009 a0002c0005 a0002c0007 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 a0001c0001t0020 a0001c0001t0025 a0001c0001t0028 a0001c0001t0039 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0012 a0001c0002t0031 a0001c0003t0002 a0001c0003t0003 a0001c0003t0010 a0001c0003t0036 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0005 a0001c0009t0002 a0002c0005t0011 a0002c0007t0006 a0004c0011t0002	a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 others(54): Show a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0091 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0129 a0001c0001t0002g0025 a0001c0001t0002g0036 a0001c0001t0002g0048 a0001c0001t0002g0099 a0001c0001t0002g0106 a0001c0001t0002g0111 a0001c0001t0002g0119 a0001c0001t0002g0143 a0001c0001t0003g0051 a0001c0001t0007g0121 a0001c0001t0008g0123 a0001c0001t0016g0042 a0001c0001t0020g0097 a0001c0001t0025g0021 a0001c0001t0028g0095 a0001c0001t0039g0022 a0001c0002t0001g0070 a0001c0002t0001g0090 a0001c0002t0002g0020 a0001c0002t0002g0065 a0001c0002t0002g0074 a0001c0002t0002g0102 a0001c0002t0002g0107 a0001c0002t0003g0001 a0001c0002t0003g0069 a0001c0002t0003g0081 a0001c0002t0012g0046 a0001c0002t0012g0120 a0001c0002t0031g0008 a0001c0003t0002g0028 a0001c0003t0002g0116 a0001c0003t0003g0056 a0001c0003t0010g0089 a0001c0003t0036g0050 a0001c0004t0001g0032 a0001c0004t0001g0040 a0001c0004t0001g0071 a0001c0004t0001g0085 a0001c0004t0001g0103 a0001c0004t0001g0127 a0001c0004t0002g0112 a0001c0004t0003g0049 a0001c0004t0003g0067 a0001c0004t0005g0023 a0001c0009t0002g0082 a0002c0005t0011g0079 a0002c0007t0006g0030 a0002c0007t0006g0041 a0004c0011t0002g0110	57	148	0.3851	0	c.169 others(5): Show c.169-5T>G		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	4/25						chr7	TogoVar
DGKB_chr7_14140049_14907751	14841454	CA CA	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00621.hp2 HG01074.hp2 HG01081.hp1 others(33): Show HG00621.hp2 HG01074.hp2 HG01081.hp1 HG01255.hp1 HG01255.hp2 HG02055.hp2 HG02080.hp1 HG02109.hp1 HG02145.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02622.hp2 HG02630.hp1 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02965.hp2 HG02970.hp2 HG03130.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03540.hp1 HG03831.hp1 HG04115.hp2 HG04204.hp1 NA18906.hp1 NA18951.hp1 NA18984.hp1 NA18984.hp2 NA19002.hp1 NA19043.hp2 NA19062.hp1 NA19081.hp1 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0009 a0001c0012 a0002c0005 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0021 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0030 a0001c0002t0031 a0001c0002t0038 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0003t0008 a0001c0003t0009 a0001c0003t0035 a0001c0003t0036 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0006t0008 a0001c0009t0002 a0001c0009t0009 a0001c0012t0003 a0002c0005t0011 a0004c0011t0002	a0001c0001t0001g0045 a0001c0001t0001g0105 a0001c0001t0002g0048 others(33): Show a0001c0001t0001g0045 a0001c0001t0001g0105 a0001c0001t0002g0048 a0001c0001t0002g0106 a0001c0001t0002g0111 a0001c0001t0003g0051 a0001c0001t0008g0123 a0001c0001t0021g0029 a0001c0002t0001g0017 a0001c0002t0001g0033 a0001c0002t0001g0070 a0001c0002t0002g0074 a0001c0002t0002g0137 a0001c0002t0003g0081 a0001c0002t0030g0092 a0001c0002t0031g0008 a0001c0002t0038g0093 a0001c0003t0001g0136 a0001c0003t0002g0063 a0001c0003t0003g0056 a0001c0003t0003g0094 a0001c0003t0005g0057 a0001c0003t0005g0124 a0001c0003t0008g0011 a0001c0003t0009g0004 a0001c0003t0035g0126 a0001c0003t0036g0050 a0001c0004t0001g0071 a0001c0004t0002g0131 a0001c0004t0003g0049 a0001c0006t0008g0080 a0001c0009t0002g0082 a0001c0009t0009g0125 a0001c0012t0003g0015 a0002c0005t0011g0079 a0004c0011t0002g0110	36	148	0.2432	-1	c.-18 others(7): Show c.-187-5delT		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	1/25						chr7	TogoVar
DGKB_chr7_14140049_14907751	14841454	CAA CAA	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00280.hp2 HG00597.hp1 others(56): Show HG00280.hp1 HG00280.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00741.hp1 HG01074.hp1 HG01081.hp2 HG01169.hp2 HG01515.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02258.hp1 HG02486.hp2 HG02523.hp1 HG02622.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02886.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03579.hp2 HG03831.hp2 HG03942.hp1 HG04204.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18960.hp1 NA18960.hp2 NA18968.hp2 NA18988.hp1 NA19030.hp1 NA19043.hp1 NA19057.hp2 NA20300.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0013 a0001c0014 a0001c0015 a0001c0016 a0001c0017 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0016 a0001c0001t0020 a0001c0001t0028 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0012 a0001c0002t0013 a0001c0002t0029 a0001c0002t0034 a0001c0002t0040 a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0004t0001 a0001c0004t0002 a0001c0004t0005 a0001c0004t0010 a0001c0004t0027 a0001c0006t0004 a0001c0006t0019 a0001c0008t0003 a0001c0013t0017 a0001c0014t0001 a0001c0015t0032 a0001c0016t0001 a0001c0017t0024 a0002c0007t0006	a0001c0001t0001g0031 a0001c0001t0001g0043 a0001c0001t0001g0044 others(56): Show a0001c0001t0001g0031 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0002g0025 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0099 a0001c0001t0002g0119 a0001c0001t0002g0143 a0001c0001t0007g0132 a0001c0001t0016g0042 a0001c0001t0020g0097 a0001c0001t0028g0095 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0096 a0001c0002t0002g0102 a0001c0002t0002g0128 a0001c0002t0003g0003 a0001c0002t0003g0010 a0001c0002t0003g0055 a0001c0002t0003g0072 a0001c0002t0003g0135 a0001c0002t0004g0088 a0001c0002t0012g0046 a0001c0002t0012g0120 a0001c0002t0013g0104 a0001c0002t0029g0002 a0001c0002t0034g0014 a0001c0002t0040g0068 a0001c0003t0001g0006 a0001c0003t0001g0054 a0001c0003t0002g0028 a0001c0003t0005g0016 a0001c0003t0005g0130 a0001c0004t0001g0032 a0001c0004t0001g0040 a0001c0004t0001g0103 a0001c0004t0002g0112 a0001c0004t0002g0133 a0001c0004t0005g0023 a0001c0004t0010g0100 a0001c0004t0027g0059 a0001c0006t0004g0145 a0001c0006t0019g0144 a0001c0008t0003g0077 a0001c0008t0003g0078 a0001c0013t0017g0084 a0001c0014t0001g0018 a0001c0015t0032g0019 a0001c0016t0001g0039 a0001c0017t0024g0146 a0002c0007t0006g0030 a0002c0007t0006g0041	59	148	0.3987	-2	c.-18 others(15): Show c.-187-6_-187-5delTT		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	1/25						chr7	TogoVar
DGKB_chr7_14140049_14907751	14841454	CAAA CAAA	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00558.hp1 HG00558.hp2 HG00597.hp2 others(38): Show HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG01109.hp1 HG01167.hp2 HG01169.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02109.hp2 HG02165.hp2 HG02258.hp2 HG02523.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03579.hp1 HG03942.hp2 HG04115.hp1 NA18951.hp2 NA18968.hp1 NA18988.hp2 NA18993.hp1 NA18993.hp2 NA19002.hp2 NA19057.hp1 NA19062.hp2 NA19081.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0005 a0003c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0023 a0001c0001t0041 a0001c0002t0002 a0001c0002t0003 a0001c0002t0009 a0001c0002t0022 a0001c0002t0042 a0001c0003t0002 a0001c0003t0004 a0001c0003t0005 a0001c0003t0013 a0001c0003t0014 a0001c0003t0015 a0001c0003t0018 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0026 a0002c0005t0006 a0002c0005t0011 a0003c0010t0033	a0001c0001t0001g0024 a0001c0001t0001g0034 a0001c0001t0001g0140 others(38): Show a0001c0001t0001g0024 a0001c0001t0001g0034 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0002g0109 a0001c0001t0002g0117 a0001c0001t0004g0142 a0001c0001t0007g0037 a0001c0001t0007g0121 a0001c0001t0023g0122 a0001c0001t0041g0147 a0001c0002t0002g0107 a0001c0002t0003g0001 a0001c0002t0003g0027 a0001c0002t0003g0058 a0001c0002t0003g0069 a0001c0002t0009g0064 a0001c0002t0022g0013 a0001c0002t0042g0148 a0001c0003t0002g0116 a0001c0003t0004g0009 a0001c0003t0004g0083 a0001c0003t0005g0073 a0001c0003t0013g0066 a0001c0003t0014g0075 a0001c0003t0014g0076 a0001c0003t0015g0086 a0001c0003t0018g0061 a0001c0004t0001g0026 a0001c0004t0001g0035 a0001c0004t0001g0085 a0001c0004t0001g0108 a0001c0004t0001g0114 a0001c0004t0001g0127 a0001c0004t0002g0115 a0001c0004t0004g0113 a0001c0004t0004g0118 a0001c0004t0026g0138 a0002c0005t0006g0139 a0002c0005t0011g0062 a0003c0010t0033g0007	41	148	0.2770	-3	c.-18 others(16): Show c.-187-7_-187-5delTTT		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	1/25						chr7	TogoVar
DGKD_chr2_233349494_233477098	233450917	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0317 a0001c0001t0001g0317	1	336	0.0030	0	c.203 others(6): Show c.2039-5T>A		DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	16/29						chr2	TogoVar
DGKD_chr2_233349494_233477098	233450917	T T	TA TA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00639.hp1 HG02895.hp2 HG02897.hp2 HG00639.hp1 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0004 a0001c0009 a0001c0004 a0001c0009	a0001c0004t0023 a0001c0009t0003 a0001c0004t0023 a0001c0009t0003	a0001c0004t0023g0156 a0001c0004t0023g0157 a0001c0009t0003g0201 a0001c0004t0023g0156 a0001c0004t0023g0157 a0001c0009t0003g0201	3	336	0.0089	1	c.203 others(7): Show c.2039-4dupA		DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	16/29					INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKD_chr2_233349494_233477098	233468417	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0174 a0001c0002t0025g0174	1	336	0.0030	0	c.342 others(6): Show c.3425-6C>T		DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	28/29						chr2	TogoVar
DGKE_chr17_56829151_56874567	56844016	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02572.hp1 HG02895.hp2 HG02572.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0095 a0001c0001t0001g0099	2	324	0.0062	0	c.465 others(5): Show c.465-3C>T		DGKE	ENSG00000153933.10	transcript	ENST00000284061.8	protein_coding	2/11						chr17	TogoVar
DGKE_chr17_56829151_56874567	56849240	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	324	0.0031	0	c.109 others(6): Show c.1098+8G>T		DGKE	ENSG00000153933.10	transcript	ENST00000284061.8	protein_coding	7/11						chr17	TogoVar
DGKG_chr3_186142201_186367234	186211795	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01074.hp2 HG03130.hp2 NA19043.hp1 HG01074.hp2 HG03130.hp2 NA19043.hp1	a0001 a0005 a0001 a0005	a0001c0015 a0001c0018 a0005c0014 a0001c0015 a0001c0018 a0005c0014	a0001c0015t0003 a0001c0018t0008 a0005c0014t0035 a0001c0015t0003 a0001c0018t0008 a0005c0014t0035	a0001c0015t0003g0225 a0001c0018t0008g0218 a0005c0014t0035g0093 a0001c0015t0003g0225 a0001c0018t0008g0218 a0005c0014t0035g0093	3	234	0.0128	0	c.191 others(4): Show c.1917G>A	p.Glu others(6): Show p.Glu639Glu	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	21/25	2454/5802	1917/2376	639/791			chr3	TogoVar
DGKG_chr3_186142201_186367234	186288885	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0145 a0001c0002t0001g0145	1	234	0.0043	0	c.374 others(5): Show c.374-5C>T		DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	5/24						chr3	TogoVar
DGKH_chr13_42043648_42247896	42127581	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00438.hp1 HG00438.hp2 others(96): Show HG00140.hp1 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00639.hp1 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01928.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02055.hp2 HG02109.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03654.hp2 HG03704.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG06807.hp2 NA18906.hp1 NA18965.hp2 NA18980.hp2 NA18981.hp2 NA18993.hp1 NA18998.hp1 NA19011.hp1 NA19043.hp2 NA19063.hp2 NA19064.hp1 NA19074.hp2 NA19084.hp1 NA19085.hp1 NA19091.hp2 NA19240.hp2 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0013 a0001c0024 a0001c0026 a0002c0022 a0003c0007 a0003c0011 a0008c0023	a0001c0001t0002 a0001c0001t0015 a0001c0001t0021 others(55): Show a0001c0001t0002 a0001c0001t0015 a0001c0001t0021 a0001c0001t0029 a0001c0001t0033 a0001c0001t0034 a0001c0001t0065 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0002t0001 a0001c0002t0024 a0001c0002t0030 a0001c0002t0042 a0001c0003t0008 a0001c0003t0010 a0001c0003t0013 a0001c0003t0025 a0001c0003t0038 a0001c0003t0043 a0001c0003t0044 a0001c0003t0045 a0001c0003t0046 a0001c0003t0059 a0001c0003t0109 a0001c0003t0110 a0001c0003t0111 a0001c0003t0113 a0001c0003t0114 a0001c0003t0115 a0001c0004t0001 a0001c0004t0008 a0001c0004t0009 a0001c0004t0020 a0001c0004t0025 a0001c0004t0026 a0001c0004t0027 a0001c0004t0040 a0001c0004t0041 a0001c0004t0093 a0001c0004t0108 a0001c0004t0117 a0001c0004t0122 a0001c0013t0001 a0001c0013t0049 a0001c0024t0029 a0001c0026t0048 a0002c0022t0008 a0003c0007t0009 a0003c0011t0100 a0008c0023t0112	a0001c0001t0002g0041 a0001c0001t0002g0052 a0001c0001t0002g0083 others(95): Show a0001c0001t0002g0041 a0001c0001t0002g0052 a0001c0001t0002g0083 a0001c0001t0002g0107 a0001c0001t0002g0139 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0216 a0001c0001t0002g0233 a0001c0001t0002g0257 a0001c0001t0002g0297 a0001c0001t0015g0036 a0001c0001t0015g0163 a0001c0001t0015g0164 a0001c0001t0015g0166 a0001c0001t0021g0296 a0001c0001t0029g0034 a0001c0001t0033g0040 a0001c0001t0033g0145 a0001c0001t0034g0039 a0001c0001t0034g0055 a0001c0001t0065g0046 a0001c0001t0067g0101 a0001c0001t0068g0314 a0001c0001t0069g0042 a0001c0001t0070g0284 a0001c0001t0071g0096 a0001c0001t0072g0102 a0001c0001t0073g0095 a0001c0001t0079g0280 a0001c0001t0080g0057 a0001c0001t0081g0167 a0001c0002t0001g0011 a0001c0002t0001g0283 a0001c0002t0024g0003 a0001c0002t0024g0004 a0001c0002t0024g0007 a0001c0002t0030g0006 a0001c0002t0030g0050 a0001c0002t0042g0014 a0001c0003t0008g0214 a0001c0003t0010g0017 a0001c0003t0010g0161 a0001c0003t0010g0197 a0001c0003t0010g0198 a0001c0003t0010g0200 a0001c0003t0010g0279 a0001c0003t0013g0009 a0001c0003t0013g0015 a0001c0003t0025g0138 a0001c0003t0025g0186 a0001c0003t0038g0133 a0001c0003t0043g0056 a0001c0003t0043g0204 a0001c0003t0044g0177 a0001c0003t0044g0182 a0001c0003t0045g0178 a0001c0003t0045g0179 a0001c0003t0046g0077 a0001c0003t0046g0146 a0001c0003t0059g0311 a0001c0003t0109g0080 a0001c0003t0110g0135 a0001c0003t0111g0064 a0001c0003t0113g0029 a0001c0003t0114g0202 a0001c0003t0115g0201 a0001c0004t0001g0008 a0001c0004t0008g0278 a0001c0004t0009g0275 a0001c0004t0020g0276 a0001c0004t0020g0313 a0001c0004t0025g0213 a0001c0004t0026g0028 a0001c0004t0027g0141 a0001c0004t0027g0156 a0001c0004t0040g0063 a0001c0004t0041g0165 a0001c0004t0093g0212 a0001c0004t0108g0206 a0001c0004t0117g0013 a0001c0004t0122g0061 a0001c0013t0001g0231 a0001c0013t0049g0302 a0001c0024t0029g0033 a0001c0026t0048g0240 a0002c0022t0008g0162 a0003c0007t0009g0001 a0003c0007t0009g0244 a0003c0007t0009g0245 a0003c0007t0009g0246 a0003c0007t0009g0248 a0003c0011t0100g0247 a0008c0023t0112g0147	99	316	0.3133	0	c.303 others(5): Show c.303+8A>G		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	2/29						chr13	TogoVar
DGKH_chr13_42043648_42247896	42129546	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00438.hp1 HG00438.hp2 others(91): Show HG00140.hp1 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00639.hp1 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01928.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02055.hp1 HG02074.hp1 HG02135.hp1 HG02145.hp2 HG02148.hp2 HG02559.hp1 HG02602.hp1 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03453.hp1 HG03486.hp2 HG03704.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18906.hp1 NA18950.hp1 NA18954.hp2 NA18961.hp2 NA18965.hp2 NA18966.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18986.hp1 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19004.hp2 NA19011.hp1 NA19012.hp2 NA19043.hp2 NA19063.hp2 NA19064.hp1 NA19074.hp2 NA19077.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19091.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0013 a0001c0024 a0001c0026 a0002c0022 a0008c0023	a0001c0001t0002 a0001c0001t0015 a0001c0001t0021 others(46): Show a0001c0001t0002 a0001c0001t0015 a0001c0001t0021 a0001c0001t0029 a0001c0001t0033 a0001c0001t0034 a0001c0001t0065 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0002t0001 a0001c0002t0075 a0001c0003t0006 a0001c0003t0008 a0001c0003t0010 a0001c0003t0013 a0001c0003t0025 a0001c0003t0038 a0001c0003t0043 a0001c0003t0044 a0001c0003t0045 a0001c0003t0046 a0001c0003t0059 a0001c0003t0105 a0001c0003t0106 a0001c0003t0109 a0001c0003t0110 a0001c0003t0111 a0001c0003t0113 a0001c0003t0114 a0001c0003t0115 a0001c0006t0001 a0001c0006t0004 a0001c0006t0017 a0001c0006t0022 a0001c0006t0036 a0001c0006t0082 a0001c0013t0001 a0001c0024t0029 a0001c0026t0048 a0002c0022t0008 a0008c0023t0112	a0001c0001t0002g0041 a0001c0001t0002g0052 a0001c0001t0002g0083 others(91): Show a0001c0001t0002g0041 a0001c0001t0002g0052 a0001c0001t0002g0083 a0001c0001t0002g0107 a0001c0001t0002g0139 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0216 a0001c0001t0002g0233 a0001c0001t0002g0257 a0001c0001t0002g0297 a0001c0001t0015g0036 a0001c0001t0015g0163 a0001c0001t0015g0164 a0001c0001t0015g0166 a0001c0001t0021g0296 a0001c0001t0029g0034 a0001c0001t0033g0040 a0001c0001t0033g0145 a0001c0001t0034g0039 a0001c0001t0034g0055 a0001c0001t0065g0046 a0001c0001t0067g0101 a0001c0001t0068g0314 a0001c0001t0069g0042 a0001c0001t0070g0284 a0001c0001t0071g0096 a0001c0001t0072g0102 a0001c0001t0073g0095 a0001c0001t0079g0280 a0001c0001t0080g0057 a0001c0001t0081g0167 a0001c0002t0001g0283 a0001c0002t0075g0176 a0001c0003t0006g0174 a0001c0003t0006g0175 a0001c0003t0006g0196 a0001c0003t0006g0261 a0001c0003t0006g0262 a0001c0003t0006g0295 a0001c0003t0006g0304 a0001c0003t0006g0305 a0001c0003t0006g0307 a0001c0003t0006g0308 a0001c0003t0008g0214 a0001c0003t0010g0017 a0001c0003t0010g0161 a0001c0003t0010g0197 a0001c0003t0010g0198 a0001c0003t0010g0200 a0001c0003t0010g0279 a0001c0003t0013g0009 a0001c0003t0013g0015 a0001c0003t0025g0138 a0001c0003t0025g0186 a0001c0003t0038g0133 a0001c0003t0043g0056 a0001c0003t0043g0204 a0001c0003t0044g0177 a0001c0003t0044g0182 a0001c0003t0045g0178 a0001c0003t0045g0179 a0001c0003t0046g0077 a0001c0003t0046g0146 a0001c0003t0059g0311 a0001c0003t0105g0132 a0001c0003t0106g0058 a0001c0003t0109g0080 a0001c0003t0110g0135 a0001c0003t0111g0064 a0001c0003t0113g0029 a0001c0003t0114g0202 a0001c0003t0115g0201 a0001c0006t0001g0109 a0001c0006t0001g0168 a0001c0006t0004g0062 a0001c0006t0004g0110 a0001c0006t0017g0111 a0001c0006t0017g0112 a0001c0006t0017g0285 a0001c0006t0017g0309 a0001c0006t0022g0038 a0001c0006t0036g0048 a0001c0006t0036g0189 a0001c0006t0082g0016 a0001c0013t0001g0231 a0001c0024t0029g0033 a0001c0026t0048g0240 a0002c0022t0008g0162 a0008c0023t0112g0147	94	316	0.2975	0	c.304 others(5): Show c.304-6T>C		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	2/29						chr13	TogoVar

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