Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DPP6_chr7_154047398_154899285	154671853	A A	AACACATA others(7): Show AACACATACATGCAC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0025 a0002c0014t0025	a0002c0014t0025g0029 a0002c0014t0025g0029	1	38	0.0263	14	c.762 others(31): Show c.762+2417_762+2418insTACATGCACACACA	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP6_chr7_154047398_154899285	154671862	A A	ATGCACAC others(7): Show ATGCACACACACACG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0017 a0001c0015t0017	a0001c0015t0017g0036 a0001c0015t0017g0036	1	38	0.0263	14	c.762 others(31): Show c.762+2434_762+2435insGTGCACACACACAC	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP6_chr7_154047398_154899285	154671866	A A	ACACACAC others(7): Show ACACACACACACGTG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01071.hp2 HG02040.hp2 others(7): Show HG00558.hp2 HG01071.hp2 HG02040.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02559.hp1 NA18747.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0007 others(4): Show a0001c0001 a0001c0006 a0001c0007 a0001c0020 a0001c0024 a0002c0002 a0002c0019	a0001c0001t0001 a0001c0001t0005 a0001c0001t0016 others(7): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0016 a0001c0006t0002 a0001c0006t0003 a0001c0007t0019 a0001c0020t0001 a0001c0024t0028 a0002c0002t0029 a0002c0019t0001	a0001c0001t0001g0019 a0001c0001t0005g0032 a0001c0001t0016g0005 others(7): Show a0001c0001t0001g0019 a0001c0001t0005g0032 a0001c0001t0016g0005 a0001c0006t0002g0015 a0001c0006t0003g0013 a0001c0007t0019g0037 a0001c0020t0001g0010 a0001c0024t0028g0003 a0002c0002t0029g0002 a0002c0019t0001g0021	10	38	0.2632	14	c.762 others(31): Show c.762+2436_762+2437insGTGCACACACACAC	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP6_chr7_154047398_154899285	154676190	G G	GGGGCGTG others(7): Show GGGGCGTGCTGTGGC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01433.hp2 HG02280.hp2 others(5): Show HG01071.hp1 HG01433.hp2 HG02280.hp2 HG02486.hp2 HG03453.hp1 HG03453.hp2 HG03579.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0001c0018 a0002c0008 others(4): Show a0001c0007 a0001c0018 a0002c0008 a0002c0009 a0002c0022 a0002c0026 a0002c0028	a0001c0007t0005 a0001c0018t0009 a0002c0008t0006 others(5): Show a0001c0007t0005 a0001c0018t0009 a0002c0008t0006 a0002c0008t0012 a0002c0009t0004 a0002c0022t0023 a0002c0026t0026 a0002c0028t0002	a0001c0007t0005g0038 a0001c0018t0009g0023 a0002c0008t0006g0034 others(5): Show a0001c0007t0005g0038 a0001c0018t0009g0023 a0002c0008t0006g0034 a0002c0008t0012g0001 a0002c0009t0004g0004 a0002c0022t0023g0027 a0002c0026t0026g0006 a0002c0028t0002g0016	8	38	0.2105	14	c.762 others(31): Show c.762+6749_762+6750insGGGCGTGCTGTGGC	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	7/25			chr7	TogoVar
DPP6_chr7_154047398_154899285	154884071	T T	TACACATG others(7): Show TACACATGCTCACAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0024 a0001c0003t0007g0024	1	38	0.0263	14	c.213 others(33): Show c.2134-1549_2134-1536dupACACACATGCTCAC	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	21/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP8_chr15_65437467_65522689	65442123	G G	GAGGGAAA others(7): Show GAGGGAAAAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	336	0.0030	14	c.47 others(25): Show c.4760_*4761insTCTCTCTTTTCCCT	DPP8	ENSG00000074603.19	transcript	ENST00000300141.11	protein_coding		343		chr15	TogoVar
DPP8_chr15_65437467_65522689	65448868	A A	ATATATAT others(7): Show ATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0007 a0001c0001t0010g0007	1	336	0.0030	14	c.252 others(33): Show c.2527-1863_2527-1862insCACACACATATATA	DPP8	ENSG00000074603.19	transcript	ENST00000300141.11	protein_coding	19/19			chr15	TogoVar
DPP8_chr15_65437467_65522689	65499105	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0327 a0001c0003t0009g0327	1	336	0.0030	14	c.547 others(31): Show c.547-1074_547-1073insTATACACACACACA	DPP8	ENSG00000074603.19	transcript	ENST00000300141.11	protein_coding	4/19			chr15	TogoVar
DPP8_chr15_65437467_65522689	65499105	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0161 a0001c0001t0007g0161	1	336	0.0030	14	c.547 others(31): Show c.547-1074_547-1073insTACACACACACACA	DPP8	ENSG00000074603.19	transcript	ENST00000300141.11	protein_coding	4/19			chr15	TogoVar
DPPA3_chr12_7706433_7722559	7712077	G G	GGCTATTT others(7): Show GGCTATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01167.hp1 HG01192.hp1 others(20): Show HG01109.hp2 HG01167.hp1 HG01192.hp1 HG01515.hp2 HG01517.hp1 HG02723.hp2 HG02809.hp2 HG03239.hp1 HG03486.hp2 HG03491.hp1 NA18943.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18983.hp1 NA18988.hp1 NA18995.hp2 NA19001.hp2 NA19010.hp1 NA19043.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0006 a0001c0001t0002g0031 a0001c0001t0002g0080 others(3): Show a0001c0001t0002g0006 a0001c0001t0002g0031 a0001c0001t0002g0080 a0001c0001t0002g0095 a0001c0001t0002g0100 a0001c0001t0003g0056	23	466	0.0494	14	c.82+ others(27): Show c.82+425_82+426insGCTATTTTTTTTTT	DPPA3	ENSG00000187569.3	transcript	ENST00000345088.3	protein_coding	1/3			chr12	TogoVar
DPPA5_chr6_73348063_73359276	73355167	G G	GCACACAC others(7): Show GCACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02622.hp1 HG02896.hp2 others(3): Show HG02559.hp2 HG02622.hp1 HG02896.hp2 HG02897.hp1 HG03516.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	6	428	0.0140	14	c.-94 others(23): Show c.-943_-942insTGTGTGTGTGTGTG	DPPA5	ENSG00000203909.4	transcript	ENST00000370370.4	protein_coding		892		chr6	TogoVar
DPPA5_chr6_73348063_73359276	73356989	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	14	c.-27 others(25): Show c.-2765_-2764insTTTTTTTTTTTTTT	DPPA5	ENSG00000203909.4	transcript	ENST00000370370.4	protein_coding		2714		chr6	TogoVar
DPPA5_chr6_73348063_73359276	73356991	A A	AAAAAAAA others(7): Show AAAAAAAAAAAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(298): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18978.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0002g0003 a0001c0002t0001g0002 a0001c0003t0001g0004	301	428	0.7033	14	c.-27 others(25): Show c.-2767_-2766insGTTTTTTTTTTTTT	DPPA5	ENSG00000203909.4	transcript	ENST00000370370.4	protein_coding		2716		chr6	TogoVar
DPPA5_chr6_73348063_73359276	73356991	A A	AAAAAAAA others(7): Show AAAAAAAAAAACAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	14	c.-27 others(25): Show c.-2767_-2766insGTTGTTTTTTTTTT	DPPA5	ENSG00000203909.4	transcript	ENST00000370370.4	protein_coding		2716		chr6	TogoVar
DPY19L1_chr7_34923881_35042485	35027668	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0196 a0002c0002t0003g0196	1	328	0.0031	14	c.299 others(31): Show c.299-9086_299-9073dupTTTTTTTTTTTTTT	DPY19L1	ENSG00000173852.16	transcript	ENST00000638088.2	protein_coding	1/21			chr7	TogoVar
DPY19L2_chr12_63553913_63673493	63567054	G G	GACATATA others(7): Show GACATATAACGATAA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0130 a0002c0003t0001g0130	1	362	0.0028	14	c.212 others(33): Show c.2126+2169_2126+2170insTTATCGTTATATGT	DPY19L2	ENSG00000177990.12	transcript	ENST00000324472.9	protein_coding	21/21			chr12	TogoVar
DPY19L2_chr12_63553913_63673493	63577582	C C	CTCTGTAG others(7): Show CTCTGTAGGAAAACA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02970.hp1 HG03195.hp1 others(3): Show HG02818.hp2 HG02970.hp1 HG03195.hp1 HG03471.hp2 HG03516.hp1 NA19240.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0091 a0002c0003t0001g0101 a0002c0003t0001g0107 others(3): Show a0002c0003t0001g0091 a0002c0003t0001g0101 a0002c0003t0001g0107 a0002c0003t0001g0124 a0002c0003t0001g0125 a0002c0003t0001g0126	6	362	0.0166	14	c.190 others(33): Show c.1900+3079_1900+3080insTGTTTTCCTACAGA	DPY19L2	ENSG00000177990.12	transcript	ENST00000324472.9	protein_coding	19/21			chr12	TogoVar
DPY19L2_chr12_63553913_63673493	63594464	A A	AGAGTGTG others(7): Show AGAGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0109 a0002c0002t0004g0109	1	362	0.0028	14	c.153 others(31): Show c.1534-332_1534-331insACACACACACACTC	DPY19L2	ENSG00000177990.12	transcript	ENST00000324472.9	protein_coding	15/21			chr12	TogoVar
DPY19L2_chr12_63553913_63673493	63594464	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01099.hp2 HG01123.hp1 others(37): Show HG00438.hp2 HG01099.hp2 HG01123.hp1 HG01255.hp1 HG01261.hp2 HG01496.hp1 HG01884.hp1 HG01943.hp1 HG02055.hp2 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp2 HG02717.hp1 HG02886.hp2 HG02922.hp1 HG03139.hp2 HG03195.hp1 HG03239.hp2 HG03486.hp1 HG03491.hp1 HG03654.hp2 HG04199.hp2 NA18941.hp1 NA18945.hp2 NA18953.hp1 NA18963.hp1 NA18965.hp2 NA18984.hp1 NA18986.hp2 NA18988.hp1 NA18992.hp1 NA19005.hp2 NA19062.hp2 NA19068.hp1 NA19081.hp1 NA19082.hp2 NA19087.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0011	a0001c0001 a0001c0006 a0001c0015 others(3): Show a0001c0001 a0001c0006 a0001c0015 a0002c0003 a0003c0004 a0011c0017	a0001c0001t0001 a0001c0006t0003 a0001c0015t0001 others(3): Show a0001c0001t0001 a0001c0006t0003 a0001c0015t0001 a0002c0003t0001 a0003c0004t0007 a0011c0017t0003	a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 others(37): Show a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0244 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0264 a0001c0006t0003g0280 a0001c0006t0003g0283 a0001c0015t0001g0311 a0002c0003t0001g0014 a0002c0003t0001g0091 a0003c0004t0007g0173 a0011c0017t0003g0349	40	362	0.1105	14	c.153 others(31): Show c.1534-345_1534-332dupACACACACACACAC	DPY19L2	ENSG00000177990.12	transcript	ENST00000324472.9	protein_coding	15/21			chr12	TogoVar
DPY19L2_chr12_63553913_63673493	63594491	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02809.hp1 NA19030.hp1 HG02622.hp2 HG02809.hp1 NA19030.hp1	a0003 a0006 a0003 a0006	a0003c0004 a0006c0011 a0003c0004 a0006c0011	a0003c0004t0003 a0006c0011t0003 a0003c0004t0003 a0006c0011t0003	a0003c0004t0003g0095 a0003c0004t0003g0100 a0006c0011t0003g0102 a0003c0004t0003g0095 a0003c0004t0003g0100 a0006c0011t0003g0102	3	362	0.0083	14	c.153 others(31): Show c.1534-359_1534-358insTACACACACACACA	DPY19L2	ENSG00000177990.12	transcript	ENST00000324472.9	protein_coding	15/21			chr12	TogoVar
DPY19L2_chr12_63553913_63673493	63610841	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02145.hp1 HG02630.hp2 others(4): Show HG00738.hp2 HG02145.hp1 HG02630.hp2 HG02723.hp1 HG02818.hp1 HG03209.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0003 a0001c0001t0001 a0001c0006t0003	a0001c0001t0001g0252 a0001c0001t0001g0302 a0001c0001t0001g0305 others(4): Show a0001c0001t0001g0252 a0001c0001t0001g0302 a0001c0001t0001g0305 a0001c0006t0003g0245 a0001c0006t0003g0287 a0001c0006t0003g0306 a0001c0006t0003g0307	7	362	0.0193	14	c.121 others(33): Show c.1219-2180_1219-2167dupTTTTTTTTTTTTTT	DPY19L2	ENSG00000177990.12	transcript	ENST00000324472.9	protein_coding	11/21			chr12	TogoVar
DPY19L3_chr19_32400770_32490890	32422629	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01891.hp2 HG02145.hp2 others(7): Show HG01261.hp2 HG01891.hp2 HG02145.hp2 HG02451.hp1 HG02738.hp2 HG02818.hp2 HG02965.hp1 HG03139.hp1 NA18944.hp1 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0006 a0001c0002t0012 a0002c0004t0011 a0001c0002t0006 a0001c0002t0012 a0002c0004t0011	a0001c0002t0006g0084 a0001c0002t0006g0094 a0001c0002t0006g0184 others(7): Show a0001c0002t0006g0084 a0001c0002t0006g0094 a0001c0002t0006g0184 a0001c0002t0012g0272 a0001c0002t0012g0273 a0002c0004t0011g0263 a0002c0004t0011g0264 a0002c0004t0011g0265 a0002c0004t0011g0266 a0002c0004t0011g0267	10	384	0.0260	14	c.238 others(33): Show c.238-10068_238-10055dupACACACACACACAC	DPY19L3	ENSG00000178904.19	transcript	ENST00000392250.7	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
DPY19L3_chr19_32400770_32490890	32423402	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00544.hp1 others(21): Show HG00099.hp2 HG00280.hp2 HG00544.hp1 HG01069.hp2 HG01123.hp2 HG01361.hp2 HG01516.hp2 HG02056.hp1 HG02135.hp2 HG02559.hp2 HG02818.hp2 HG03139.hp1 HG03540.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp2 NA18977.hp1 NA18977.hp2 NA18985.hp1 NA18993.hp2 NA19009.hp2 NA19011.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0016 a0001c0001t0019 a0001c0003t0008 a0002c0004t0011	a0001c0001t0001g0295 a0001c0001t0001g0331 a0001c0001t0001g0334 others(21): Show a0001c0001t0001g0295 a0001c0001t0001g0331 a0001c0001t0001g0334 a0001c0001t0001g0366 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0181 a0001c0001t0002g0200 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0234 a0001c0001t0005g0246 a0001c0001t0005g0247 a0001c0001t0007g0071 a0001c0001t0007g0186 a0001c0001t0007g0258 a0001c0001t0016g0170 a0001c0001t0019g0152 a0001c0003t0008g0188 a0002c0004t0011g0265 a0002c0004t0011g0266	24	384	0.0625	14	c.238 others(31): Show c.238-9309_238-9296dupTTTTTTTTTTTTTT	DPY19L3	ENSG00000178904.19	transcript	ENST00000392250.7	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
DPY19L3_chr19_32400770_32490890	32445440	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01928.hp1 HG01975.hp2 others(16): Show HG01258.hp1 HG01928.hp1 HG01975.hp2 HG02109.hp2 HG02155.hp2 HG02257.hp2 HG02273.hp1 HG02647.hp1 HG02965.hp2 HG03130.hp2 HG03225.hp2 HG03516.hp1 HG03579.hp1 NA18947.hp1 NA18991.hp1 NA19043.hp2 NA19077.hp2 NA19091.hp1 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0001c0003 a0004c0006 a0001c0002 a0001c0003 a0004c0006	a0001c0002t0028 a0001c0003t0004 a0001c0003t0008 others(2): Show a0001c0002t0028 a0001c0003t0004 a0001c0003t0008 a0001c0003t0010 a0004c0006t0004	a0001c0002t0028g0023 a0001c0003t0004g0006 a0001c0003t0004g0012 others(16): Show a0001c0002t0028g0023 a0001c0003t0004g0006 a0001c0003t0004g0012 a0001c0003t0004g0021 a0001c0003t0004g0026 a0001c0003t0004g0028 a0001c0003t0004g0030 a0001c0003t0004g0040 a0001c0003t0004g0048 a0001c0003t0004g0049 a0001c0003t0004g0057 a0001c0003t0008g0251 a0001c0003t0008g0296 a0001c0003t0010g0008 a0001c0003t0010g0010 a0001c0003t0010g0011 a0001c0003t0010g0015 a0001c0003t0010g0016 a0004c0006t0004g0039	19	384	0.0495	14	c.855 others(31): Show c.855+5538_855+5551dupAAAAAAAAAAAAAA	DPY19L3	ENSG00000178904.19	transcript	ENST00000392250.7	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
DPY19L4_chr8_94714900_94798836	94764681	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01928.hp2 HG02723.hp1 others(1): Show HG01109.hp2 HG01928.hp2 HG02723.hp1 HG04228.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0013 a0001c0001 a0005c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0005c0013t0024	a0001c0001t0001g0046 a0001c0001t0002g0110 a0001c0001t0007g0057 others(1): Show a0001c0001t0001g0046 a0001c0001t0002g0110 a0001c0001t0007g0057 a0005c0013t0024g0059	4	290	0.0138	14	c.871 others(29): Show c.871-493_871-492insGTGTGTGTGTGTGT	DPY19L4	ENSG00000156162.16	transcript	ENST00000414645.6	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPY19L4_chr8_94714900_94798836	94764689	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00673.hp1 HG03834.hp1 others(5): Show HG00140.hp2 HG00673.hp1 HG03834.hp1 NA18939.hp1 NA18965.hp2 NA18982.hp2 NA19011.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0094 others(5): Show a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0100 a0001c0001t0002g0102	8	290	0.0276	14	c.871 others(29): Show c.871-493_871-492insGTGTGTGTGTATAT	DPY19L4	ENSG00000156162.16	transcript	ENST00000414645.6	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPY19L4_chr8_94714900_94798836	94764689	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02004.hp2 HG02273.hp1 others(7): Show HG01934.hp2 HG02004.hp2 HG02273.hp1 HG02300.hp2 HG02738.hp2 HG03942.hp2 NA18972.hp1 NA19001.hp1 NA19081.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0037 a0001c0001t0001g0041 others(7): Show a0001c0001t0001g0030 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0090 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0109	10	290	0.0345	14	c.871 others(29): Show c.871-493_871-492insGTGTGTGTGTGTAT	DPY19L4	ENSG00000156162.16	transcript	ENST00000414645.6	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPY19L4_chr8_94714900_94798836	94788095	A A	ATATATAT others(7): Show ATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0119 a0001c0001t0030g0119	1	290	0.0035	14	c.200 others(29): Show c.2007+44_2007+45insATATATATATATTT	DPY19L4	ENSG00000156162.16	transcript	ENST00000414645.6	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPYD_chr1_97072743_97926034	97102396	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA19043.hp1 HG02572.hp1 NA19043.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0005 a0002c0002 a0006c0005	a0002c0002t0002 a0006c0005t0002 a0002c0002t0002 a0006c0005t0002	a0002c0002t0002g0005 a0006c0005t0002g0022 a0002c0002t0002g0005 a0006c0005t0002g0022	2	52	0.0385	14	c.262 others(33): Show c.2623-3778_2623-3765dupATATATATATATAT	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	20/22			chr1	TogoVar
DPYD_chr1_97072743_97926034	97176868	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	52	0.0192	14	c.262 others(35): Show c.2622+16187_2622+16200dupCACACACACACACA	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	20/22			chr1	TogoVar
DPYD_chr1_97072743_97926034	97257452	T T	TATAGAGA others(7): Show TATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03225.hp1 NA18906.hp2 HG03195.hp2 HG03225.hp1 NA18906.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0002c0002t0003 a0004c0004t0002 a0001c0001t0001 a0002c0002t0003 a0004c0004t0002	a0001c0001t0001g0041 a0002c0002t0003g0048 a0004c0004t0002g0027 a0001c0001t0001g0041 a0002c0002t0003g0048 a0004c0004t0002g0027	3	52	0.0577	14	c.230 others(35): Show c.2300-22459_2300-22458insCTCTCTCTCTCTAT	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	18/22			chr1	TogoVar
DPYD_chr1_97072743_97926034	97257452	T T	TATATATA others(7): Show TATATATATAGAGAG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02895.hp2 HG03195.hp1 HG02717.hp2 HG02895.hp2 HG03195.hp1	a0002 a0005 a0006 a0002 a0005 a0006	a0002c0002 a0005c0006 a0006c0005 a0002c0002 a0005c0006 a0006c0005	a0002c0002t0006 a0005c0006t0001 a0006c0005t0002 a0002c0002t0006 a0005c0006t0001 a0006c0005t0002	a0002c0002t0006g0006 a0005c0006t0001g0036 a0006c0005t0002g0024 a0002c0002t0006g0006 a0005c0006t0001g0036 a0006c0005t0002g0024	3	52	0.0577	14	c.230 others(35): Show c.2300-22459_2300-22458insCTCTCTATATATAT	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	18/22			chr1	TogoVar
DPYD_chr1_97072743_97926034	97469397	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA18906.hp2 HG03098.hp2 NA18906.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0004c0004t0002 a0002c0002t0001 a0004c0004t0002	a0002c0002t0001g0011 a0004c0004t0002g0027 a0002c0002t0001g0011 a0004c0004t0002g0027	2	52	0.0385	14	c.174 others(35): Show c.1741-19188_1741-19175dupTTTTTTTTTTTTTT	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	13/22			chr1	TogoVar
DPYD_chr1_97072743_97926034	97525758	T T	TAGAGAGA others(7): Show TAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02965.hp2 HG02976.hp2 others(2): Show HG02886.hp2 HG02965.hp2 HG02976.hp2 HG03239.hp1 NA19043.hp2	a0001 a0003 a0008 others(1): Show a0001 a0003 a0008 a0009	a0001c0001 a0003c0003 a0008c0007 others(1): Show a0001c0001 a0003c0003 a0008c0007 a0009c0013	a0001c0001t0003 a0003c0003t0004 a0008c0007t0001 others(2): Show a0001c0001t0003 a0003c0003t0004 a0008c0007t0001 a0008c0007t0002 a0009c0013t0004	a0001c0001t0003g0037 a0003c0003t0004g0016 a0008c0007t0001g0021 others(2): Show a0001c0001t0003g0037 a0003c0003t0004g0016 a0008c0007t0001g0021 a0008c0007t0002g0050 a0009c0013t0004g0020	5	52	0.0962	14	c.152 others(33): Show c.1525-9831_1525-9818dupCTCTCTCTCTCTCT	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	12/22			chr1	TogoVar
DPYD_chr1_97072743_97926034	97751460	G G	GTGTATGT others(7): Show GTGTATGTATATATA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0028 a0001c0001t0003g0028	1	52	0.0192	14	c.234 others(33): Show c.234-10982_234-10981insTATATATACATACA	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	3/22			chr1	TogoVar
DPYD_chr1_97072743_97926034	97751460	G G	GTGTGTAT others(7): Show GTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03195.hp2 homoSapiens_chm13v2.hp1 HG03098.hp1 HG03195.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 a0001c0001t0001 a0001c0001t0002 a0002c0002t0003	a0001c0001t0001g0042 a0001c0001t0002g0043 a0002c0002t0003g0048 a0001c0001t0001g0042 a0001c0001t0002g0043 a0002c0002t0003g0048	3	52	0.0577	14	c.234 others(33): Show c.234-10982_234-10981insTATATATATACACA	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	3/22			chr1	TogoVar
DPYD_chr1_97072743_97926034	97751460	G G	GTGTGTGT others(7): Show GTGTGTGTATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03225.hp1 HG03239.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0014 a0002c0002 a0001c0001 a0001c0014 a0002c0002	a0001c0001t0001 a0001c0014t0002 a0002c0002t0006 a0001c0001t0001 a0001c0014t0002 a0002c0002t0006	a0001c0001t0001g0041 a0001c0014t0002g0034 a0002c0002t0006g0006 a0001c0001t0001g0041 a0001c0014t0002g0034 a0002c0002t0006g0006	3	52	0.0577	14	c.234 others(33): Show c.234-10982_234-10981insTATATATACACACA	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	3/22			chr1	TogoVar
DPYD_chr1_97072743_97926034	97851249	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	52	0.0192	14	c.151 others(33): Show c.151-23067_151-23054dupATATATATATATAT	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	2/22			chr1	TogoVar
DPYD_chr1_97072743_97926034	97887469	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG03098.hp2 HG03239.hp1 others(2): Show HG02165.hp2 HG03098.hp2 HG03239.hp1 HG03579.hp2 NA18906.hp1	a0002 a0003 a0011 a0002 a0003 a0011	a0002c0002 a0002c0010 a0003c0003 others(1): Show a0002c0002 a0002c0010 a0003c0003 a0011c0009	a0002c0002t0001 a0002c0010t0002 a0003c0003t0004 others(2): Show a0002c0002t0001 a0002c0010t0002 a0003c0003t0004 a0003c0003t0005 a0011c0009t0001	a0002c0002t0001g0011 a0002c0010t0002g0012 a0003c0003t0004g0016 others(2): Show a0002c0002t0001g0011 a0002c0010t0002g0012 a0003c0003t0004g0016 a0003c0003t0005g0013 a0011c0009t0001g0051	5	52	0.0962	14	c.40- others(29): Show c.40-4109_40-4096dupTTTTTTTTTTTTTT	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	1/22			chr1	TogoVar
DPYD_chr1_97072743_97926034	97893429	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02976.hp2 HG03195.hp1 others(1): Show HG02717.hp1 HG02976.hp2 HG03195.hp1 HG03710.hp1	a0002 a0003 a0009 a0002 a0003 a0009	a0002c0002 a0003c0003 a0009c0013 a0002c0002 a0003c0003 a0009c0013	a0002c0002t0003 a0002c0002t0006 a0003c0003t0002 others(1): Show a0002c0002t0003 a0002c0002t0006 a0003c0003t0002 a0009c0013t0004	a0002c0002t0003g0018 a0002c0002t0006g0006 a0003c0003t0002g0007 others(1): Show a0002c0002t0003g0018 a0002c0002t0006g0006 a0003c0003t0002g0007 a0009c0013t0004g0020	4	52	0.0769	14	c.40- others(31): Show c.40-10069_40-10056dupATATATATATATAT	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	1/22			chr1	TogoVar
DPYSL2_chr8_26509031_26663175	26524835	A A	AAAAAAAA others(7): Show AAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00738.hp1 NA18979.hp2 others(1): Show HG00673.hp1 HG00738.hp1 NA18979.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0001t0032 a0001c0001t0033 others(1): Show a0001c0001t0012 a0001c0001t0032 a0001c0001t0033 a0001c0002t0023	a0001c0001t0012g0022 a0001c0001t0032g0020 a0001c0001t0033g0021 others(1): Show a0001c0001t0012g0022 a0001c0001t0032g0020 a0001c0001t0033g0021 a0001c0002t0023g0017	4	316	0.0127	14	c.354 others(33): Show c.354+10157_354+10158insAAAAAAAAAAAAGA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26537611	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00408.hp1 others(80): Show HG00099.hp1 HG00280.hp1 HG00408.hp1 HG00423.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG01071.hp1 HG01106.hp1 HG01123.hp2 HG01192.hp1 HG01255.hp2 HG01257.hp2 HG01358.hp2 HG01433.hp2 HG01515.hp2 HG01884.hp1 HG01952.hp2 HG01978.hp1 HG01993.hp2 HG02015.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02523.hp2 HG02630.hp2 HG02683.hp1 HG02717.hp2 HG02886.hp2 HG02895.hp1 HG02965.hp2 HG03239.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03834.hp1 HG03942.hp1 NA18522.hp2 NA18943.hp1 NA18948.hp1 NA18950.hp2 NA18954.hp2 NA18955.hp2 NA18960.hp2 NA18963.hp2 NA18971.hp2 NA18977.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp2 NA18986.hp2 NA18989.hp1 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19007.hp1 NA19010.hp2 NA19062.hp1 NA19063.hp1 NA19065.hp1 NA19066.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19085.hp2 NA19091.hp1 NA19240.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0011 a0001c0017 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0016 a0001c0001t0017 a0001c0001t0026 a0001c0001t0027 a0001c0001t0032 a0001c0001t0044 a0001c0001t0054 a0001c0002t0001 a0001c0002t0004 a0001c0002t0006 a0001c0002t0009 a0001c0002t0015 a0001c0002t0049 a0001c0003t0001 a0001c0003t0004 a0001c0003t0009 a0001c0003t0015 a0001c0003t0020 a0001c0003t0053 a0001c0007t0001 a0001c0011t0001 a0001c0017t0018 a0002c0005t0003	a0001c0001t0001g0303 a0001c0001t0002g0225 a0001c0001t0002g0229 others(80): Show a0001c0001t0001g0303 a0001c0001t0002g0225 a0001c0001t0002g0229 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0246 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0273 a0001c0001t0002g0275 a0001c0001t0002g0282 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0302 a0001c0001t0003g0077 a0001c0001t0003g0241 a0001c0001t0003g0247 a0001c0001t0003g0254 a0001c0001t0004g0121 a0001c0001t0004g0122 a0001c0001t0004g0292 a0001c0001t0016g0141 a0001c0001t0017g0070 a0001c0001t0026g0283 a0001c0001t0027g0259 a0001c0001t0027g0260 a0001c0001t0032g0020 a0001c0001t0044g0199 a0001c0001t0054g0184 a0001c0002t0001g0219 a0001c0002t0001g0227 a0001c0002t0001g0230 a0001c0002t0001g0242 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0262 a0001c0002t0001g0265 a0001c0002t0001g0267 a0001c0002t0001g0271 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0279 a0001c0002t0001g0281 a0001c0002t0001g0289 a0001c0002t0001g0295 a0001c0002t0004g0221 a0001c0002t0004g0222 a0001c0002t0004g0223 a0001c0002t0006g0127 a0001c0002t0006g0270 a0001c0002t0009g0231 a0001c0002t0009g0266 a0001c0002t0015g0232 a0001c0002t0015g0233 a0001c0002t0015g0234 a0001c0002t0049g0240 a0001c0003t0001g0226 a0001c0003t0004g0288 a0001c0003t0009g0124 a0001c0003t0009g0272 a0001c0003t0009g0291 a0001c0003t0015g0235 a0001c0003t0020g0268 a0001c0003t0053g0220 a0001c0007t0001g0261 a0001c0011t0001g0264 a0001c0011t0001g0301 a0001c0017t0018g0144 a0002c0005t0003g0010 a0002c0005t0003g0243 a0002c0005t0003g0250 a0002c0005t0003g0251 a0002c0005t0003g0252	83	316	0.2627	14	c.354 others(33): Show c.354+22942_354+22955dupCACACACACACACA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPYSL3_chr5_147385808_147515068	147510735	T T	TCACACAC others(7): Show TCACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02155.hp2 HG02080.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0247 a0001c0003t0003g0022 a0001c0001t0001g0247 a0001c0003t0003g0022	2	298	0.0067	14	c.-87 others(23): Show c.-878_-877insTGTGTGTGTGTGTG	DPYSL3	ENSG00000113657.13	transcript	ENST00000343218.10	protein_coding		668		chr5	TogoVar
DPYSL4_chr10_132181948_132210759	132205982	G G	GCCCCCCC others(7): Show GCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0048 a0001c0007t0004g0048	1	418	0.0024	14	c.10 others(25): Show c.1052_*1053insCCCCCCCCCCCCCC	DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding		224		chr10	TogoVar
DPYSL5_chr2_26843132_26955351	26888209	T T	TTTTCTTT others(7): Show TTTTCTTTCTTTTTC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0047 a0001c0001t0013g0047	1	232	0.0043	14	c.-4- others(31): Show c.-4-10276_-4-10275insTTCTTTCTTTCTTT	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26892756	T T	TGAGAGAG others(7): Show TGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00597.hp2 HG01261.hp2 others(11): Show HG00140.hp1 HG00597.hp2 HG01261.hp2 HG01433.hp2 HG01981.hp2 HG02083.hp1 HG03669.hp2 HG03831.hp1 HG03831.hp2 NA19002.hp2 NA19004.hp2 NA19065.hp2 NA19082.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0015 a0001c0001t0036 a0001c0002t0004 a0001c0002t0006 a0001c0002t0018	a0001c0001t0001g0071 a0001c0001t0001g0104 a0001c0001t0001g0112 others(11): Show a0001c0001t0001g0071 a0001c0001t0001g0104 a0001c0001t0001g0112 a0001c0001t0001g0177 a0001c0001t0001g0199 a0001c0001t0001g0213 a0001c0001t0005g0206 a0001c0001t0007g0113 a0001c0001t0007g0116 a0001c0001t0015g0183 a0001c0001t0036g0102 a0001c0002t0004g0176 a0001c0002t0006g0191 a0001c0002t0018g0175	14	232	0.0603	14	c.-4- others(29): Show c.-4-5715_-4-5702dupGAGAGAGAGAGAGA	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26931169	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0023 a0001c0001t0008g0023	1	232	0.0043	14	c.670 others(29): Show c.670-449_670-436dupGTGTGTGTGTGTGT	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26931197	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02647.hp1 HG03453.hp2 HG01496.hp1 HG02647.hp1 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0002c0003t0006 a0001c0002t0002 a0002c0003t0006	a0001c0002t0002g0086 a0001c0002t0002g0089 a0002c0003t0006g0092 a0001c0002t0002g0086 a0001c0002t0002g0089 a0002c0003t0006g0092	3	232	0.0129	14	c.670 others(29): Show c.670-442_670-441insATATATATATATAT	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26931199	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp2 HG01109.hp1 others(7): Show HG00099.hp2 HG00735.hp2 HG01109.hp1 HG01255.hp1 HG02040.hp1 HG02970.hp1 HG03486.hp2 NA18954.hp1 NA18954.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0011 others(1): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0011 a0001c0002t0020	a0001c0002t0002g0078 a0001c0002t0002g0097 a0001c0002t0002g0117 others(7): Show a0001c0002t0002g0078 a0001c0002t0002g0097 a0001c0002t0002g0117 a0001c0002t0002g0128 a0001c0002t0002g0132 a0001c0002t0002g0146 a0001c0002t0004g0099 a0001c0002t0004g0143 a0001c0002t0011g0061 a0001c0002t0020g0057	10	232	0.0431	14	c.670 others(29): Show c.670-440_670-439insATATATATATATAT	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26931201	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01257.hp2 NA18961.hp1 homoSapiens_chm13v2.hp1 HG01257.hp2 NA18961.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0026 a0001c0002t0002 a0001c0002t0026	a0001c0002t0002g0119 a0001c0002t0002g0136 a0001c0002t0026g0144 a0001c0002t0002g0119 a0001c0002t0002g0136 a0001c0002t0026g0144	3	232	0.0129	14	c.670 others(29): Show c.670-438_670-437insATATATATATATAT	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr2	TogoVar

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