Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	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
DAGLB_chr7_6404129_6452954	6430285	A A	ATATATAT others(6): Show ATATATATATATGC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02145.hp2 NA19077.hp2 HG00642.hp1 HG02145.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0176 a0001c0002t0002g0101 a0001c0002t0002g0106 a0001c0001t0002g0176 a0001c0002t0002g0101 a0001c0002t0002g0106	3	380	0.0079	13	c.929 others(28): Show c.929+194_929+195insGCATATATATATA		DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding	6/14						chr7	TogoVar
DAO_chr12_108875092_108906043	108896419	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 NA18966.hp1 NA18967.hp1 others(2): Show HG02896.hp2 NA18966.hp1 NA18967.hp1 NA19089.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0296 a0001c0001t0001g0301 a0001c0001t0001g0303 others(2): Show a0001c0001t0001g0296 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0309 a0001c0002t0001g0221	5	388	0.0129	13	c.613 others(28): Show c.613-576_613-564dupAAAAAAAAAAAAA		DAO	ENSG00000110887.8	transcript	ENST00000228476.8	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr12	TogoVar
DAPK1_chr9_87492867_87713634	87571474	C C	CACACCCC others(6): Show CACACCCCAACACA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0173 a0001c0004t0001g0173	1	236	0.0042	13	c.63- others(30): Show c.63-33480_63-33479insACACCCCAACACA		DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	2/25						chr9	TogoVar
DAPK1_chr9_87492867_87713634	87571494	C C	CACACACA others(6): Show CACACACACACACA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0069 a0002c0011t0002g0069	1	236	0.0042	13	c.63- others(30): Show c.63-33460_63-33459insACACACACACACA		DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	2/25						chr9	TogoVar
DAPK1_chr9_87492867_87713634	87662560	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02602.hp2 NA18747.hp2 others(2): Show HG02273.hp2 HG02602.hp2 NA18747.hp2 NA18977.hp2 NA19065.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0006 a0001c0001 a0001c0004 a0002c0006	a0001c0001t0001 a0001c0004t0001 a0001c0004t0003 others(2): Show a0001c0001t0001 a0001c0004t0001 a0001c0004t0003 a0002c0006t0001 a0002c0006t0003	a0001c0001t0001g0050 a0001c0004t0001g0127 a0001c0004t0003g0120 others(2): Show a0001c0001t0001g0050 a0001c0004t0001g0127 a0001c0004t0003g0120 a0002c0006t0001g0159 a0002c0006t0003g0119	5	236	0.0212	13	c.192 others(32): Show c.1923+4446_1923+4458dupTTTTTTTTTTTTT		DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	18/25					INFO_REALIGN_3_PRIME	chr9	TogoVar
DAPK1_chr9_87492867_87713634	87675896	C C	CACACACA others(6): Show CACACACACACACA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01496.hp2 HG01261.hp2 HG01496.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0008 a0001c0002 a0002c0008	a0001c0002t0001 a0002c0008t0001 a0001c0002t0001 a0002c0008t0001	a0001c0002t0001g0017 a0002c0008t0001g0155 a0001c0002t0001g0017 a0002c0008t0001g0155	2	236	0.0085	13	c.200 others(32): Show c.2002-5508_2002-5507insACACACACACACA		DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	19/25						chr9	TogoVar
DAPK2_chr15_63902036_64051485	64033286	G G	GAAGGAAG others(6): Show GAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG03098.hp2 HG03471.hp2 others(1): Show HG00558.hp1 HG03098.hp2 HG03471.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0036 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0036 a0001c0001t0040	a0001c0001t0001g0098 a0001c0001t0003g0201 a0001c0001t0036g0187 others(1): Show a0001c0001t0001g0098 a0001c0001t0003g0201 a0001c0001t0036g0187 a0001c0001t0040g0209	4	214	0.0187	13	c.92+ others(28): Show c.92+6883_92+6884insTCCTTCCTTCCTT		DAPK2	ENSG00000035664.11	transcript	ENST00000457488.6	protein_coding	2/11						chr15	TogoVar
DAPK2_chr15_63902036_64051485	64033325	G G	GAAGGAAG others(6): Show GAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0072 a0001c0002t0010g0072	1	214	0.0047	13	c.92+ others(28): Show c.92+6844_92+6845insTCCTTCCTTCCTT		DAPK2	ENSG00000035664.11	transcript	ENST00000457488.6	protein_coding	2/11						chr15	TogoVar
DAPK3_chr19_3953453_3976099	3953644	C C	CGGGGGGG others(6): Show CGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	364	0.0028	13	c.54 others(24): Show c.5456_*5457insCCCCCCCCCCCCC		DAPK3	ENSG00000167657.14	transcript	ENST00000545797.7	protein_coding					4808		chr19	TogoVar
DAPK3_chr19_3953453_3976099	3953645	G G	GGGGGGGG others(6): Show GGGGGGGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG01069.hp1 HG01071.hp1 others(7): Show HG00099.hp2 HG01069.hp1 HG01071.hp1 HG02735.hp2 NA18947.hp1 NA18960.hp1 NA18960.hp2 NA18975.hp1 NA19081.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0009 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0082 a0001c0001t0002g0002	10	364	0.0275	13	c.54 others(24): Show c.5455_*5456insGCCCCCCCCCCCC		DAPK3	ENSG00000167657.14	transcript	ENST00000545797.7	protein_coding					4807		chr19	TogoVar
DAPK3_chr19_3953453_3976099	3953646	G G	GGGGGGGG others(6): Show GGGGGGGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00673.hp1 others(33): Show HG00280.hp1 HG00423.hp2 HG00673.hp1 HG00735.hp1 HG01169.hp1 HG01891.hp2 HG02027.hp1 HG02145.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02602.hp2 HG02717.hp1 HG02965.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03453.hp2 HG03490.hp2 HG03540.hp2 NA18953.hp2 NA18961.hp2 NA18969.hp2 NA18971.hp1 NA18979.hp2 NA18980.hp2 NA18984.hp2 NA19002.hp1 NA19010.hp1 NA19043.hp1 NA19055.hp1 NA19064.hp1 NA19068.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0002c0003t0002	a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0021 others(12): Show a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0021 a0001c0001t0002g0027 a0001c0001t0002g0044 a0001c0001t0002g0053 a0001c0001t0002g0061 a0001c0001t0003g0005 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0118 a0001c0001t0004g0014 a0001c0001t0004g0137 a0001c0002t0001g0073 a0002c0003t0002g0055	36	364	0.0989	13	c.54 others(24): Show c.5454_*5455insGCCCCCCCCCCCC		DAPK3	ENSG00000167657.14	transcript	ENST00000545797.7	protein_coding					4806		chr19	TogoVar
DAPL1_chr2_158790317_158820990	158809357	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00408.hp2 others(178): Show HG00099.hp2 HG00323.hp2 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01099.hp2 HG01109.hp1 HG01168.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp2 HG01981.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04204.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18957.hp1 NA18957.hp2 NA18964.hp1 NA18967.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19030.hp1 NA19054.hp2 NA19057.hp1 NA19058.hp1 NA19059.hp2 NA19060.hp2 NA19064.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19074.hp1 NA19076.hp1 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19082.hp2 NA19084.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0004c0008 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0003t0002 a0001c0003t0003 a0002c0002t0001 a0002c0002t0002 a0004c0008t0002 a0005c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0013 others(91): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0079 a0001c0001t0001g0099 a0001c0001t0001g0115 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0002g0021 a0001c0001t0002g0038 a0001c0001t0002g0051 a0001c0001t0002g0078 a0001c0001t0002g0093 a0001c0001t0002g0096 a0001c0001t0002g0116 a0001c0001t0002g0132 a0001c0001t0002g0150 a0001c0001t0002g0157 a0001c0001t0002g0173 a0001c0001t0002g0179 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0004g0015 a0001c0001t0004g0176 a0001c0003t0002g0003 a0001c0003t0002g0016 a0001c0003t0002g0020 a0001c0003t0002g0024 a0001c0003t0002g0036 a0001c0003t0002g0037 a0001c0003t0002g0052 a0001c0003t0002g0059 a0001c0003t0002g0117 a0001c0003t0002g0120 a0001c0003t0002g0121 a0001c0003t0002g0122 a0001c0003t0002g0124 a0001c0003t0002g0125 a0001c0003t0002g0126 a0001c0003t0002g0128 a0001c0003t0002g0129 a0001c0003t0002g0189 a0001c0003t0002g0192 a0001c0003t0002g0205 a0001c0003t0003g0002 a0002c0002t0001g0004 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0090 a0002c0002t0002g0028 a0002c0002t0002g0107 a0004c0008t0002g0003 a0005c0009t0001g0127	181	360	0.5028	13	c.207 others(30): Show c.207+2253_207+2254insAAAAAAAAAAAAA		DAPL1	ENSG00000163331.12	transcript	ENST00000309950.8	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
DARS1_chr2_135900881_135990626	135907242	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp2 HG00738.hp2 HG01069.hp2 others(49): Show HG00280.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01123.hp2 HG01167.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp2 HG01433.hp2 HG01515.hp2 HG01943.hp1 HG02015.hp2 HG02074.hp2 HG02083.hp1 HG02135.hp2 HG02145.hp2 HG02559.hp1 HG02615.hp1 HG02683.hp1 HG02886.hp2 HG03041.hp2 HG03831.hp2 HG03942.hp1 HG04199.hp1 HG04204.hp1 NA18941.hp2 NA18943.hp2 NA18945.hp1 NA18956.hp1 NA18961.hp1 NA18963.hp1 NA18968.hp1 NA18979.hp1 NA18983.hp1 NA18986.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19007.hp2 NA19057.hp2 NA19060.hp1 NA19067.hp1 NA19072.hp2 NA19074.hp1 NA19086.hp1 NA20300.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0005c0004	a0001c0001t0002 a0001c0001t0032 a0001c0001t0033 others(5): Show a0001c0001t0002 a0001c0001t0032 a0001c0001t0033 a0001c0002t0027 a0001c0002t0028 a0001c0002t0029 a0001c0005t0002 a0005c0004t0002	a0001c0001t0002g0007 a0001c0001t0002g0018 a0001c0001t0002g0019 others(45): Show a0001c0001t0002g0007 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0278 a0001c0001t0002g0282 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0303 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0308 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0314 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0032g0280 a0001c0001t0033g0323 a0001c0002t0027g0262 a0001c0002t0028g0246 a0001c0002t0029g0260 a0001c0005t0002g0304 a0005c0004t0002g0283	52	378	0.1376	13	c.61 others(20): Show c.61_*73dupAAAAAAAAAAAAA		DARS1	ENSG00000115866.11	transcript	ENST00000264161.9	protein_coding	16/16				73		chr2	TogoVar
DARS1_chr2_135900881_135990626	135959391	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	378	0.0027	13	c.320 others(30): Show c.320+1992_320+2004dupTTTTTTTTTTTTT		DARS1	ENSG00000115866.11	transcript	ENST00000264161.9	protein_coding	4/15						chr2	TogoVar
DARS1_chr2_135900881_135990626	135981674	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03579.hp1 NA20129.hp2 HG02258.hp1 HG03579.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0024 a0001c0001t0025 a0001c0002t0017 a0001c0001t0024 a0001c0001t0025 a0001c0002t0017	a0001c0001t0024g0259 a0001c0001t0025g0249 a0001c0002t0017g0248 a0001c0001t0024g0259 a0001c0001t0025g0249 a0001c0002t0017g0248	3	378	0.0079	13	c.124 others(30): Show c.124+1710_124+1722dupAAAAAAAAAAAAA		DARS1	ENSG00000115866.11	transcript	ENST00000264161.9	protein_coding	2/15						chr2	TogoVar
DARS2_chr1_173819673_173863546	173834770	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	344	0.0029	13	c.663 others(28): Show c.663+262_663+263insTTTTTTTTTTTTT		DARS2	ENSG00000117593.12	transcript	ENST00000649689.2	protein_coding	7/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
DARS2_chr1_173819673_173863546	173842317	T T	TTTTTTTG others(6): Show TTTTTTTGAGAGTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03471.hp2 HG02055.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0145 a0001c0001t0002g0146	2	344	0.0058	13	c.112 others(32): Show c.1128+1344_1128+1345insTTTTTTGAGAGTG		DARS2	ENSG00000117593.12	transcript	ENST00000649689.2	protein_coding	11/16						chr1	TogoVar
DAW1_chr2_227866631_227929344	227868009	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0310 a0003c0004t0001g0310	1	340	0.0029	13	c.-36 others(24): Show c.-3681_-3680insTTTTTTTTTTTTT		DAW1	ENSG00000123977.10	transcript	ENST00000309931.3	protein_coding					3621		chr2	TogoVar
DAZ2_chrY_23214533_23296356	23214711	A A	ACTTTCAT others(6): Show ACTTTCATCTGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	54	0.0185	13	c.-50 others(24): Show c.-5030_-5029insCTTTCATCTGAAT		DAZ2	ENSG00000205944.12	transcript	ENST00000382440.6	protein_coding					4821		chrY	TogoVar
DAZL_chr3_16581792_16610423	16609592	G G	GTGTGTGT others(6): Show GTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0021 a0001c0001t0006g0021	1	446	0.0022	13	c.-43 others(24): Show c.-4388_-4387insACACACACACACA		DAZL	ENSG00000092345.14	transcript	ENST00000399444.7	protein_coding					4170		chr3	TogoVar
DBF4B_chr17_44703665_44757264	44725684	C C	CTTCTTTT others(6): Show CTTCTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02622.hp1 others(2): Show HG01167.hp1 HG01169.hp1 HG02622.hp1 HG02809.hp2 HG02818.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0003 a0001c0001t0003 a0002c0002t0003	a0001c0001t0003g0261 a0002c0002t0003g0259 a0002c0002t0003g0260 others(2): Show a0001c0001t0003g0261 a0002c0002t0003g0259 a0002c0002t0003g0260 a0002c0002t0003g0262 a0002c0002t0003g0263	5	288	0.0174	13	c.225 others(30): Show c.225+2664_225+2665insCTTTTTTTTTTTT		DBF4B	ENSG00000161692.18	transcript	ENST00000315005.8	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
DBF4B_chr17_44703665_44757264	44725684	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	288	0.0035	13	c.225 others(30): Show c.225+2670_225+2682dupTTTTTTTTTTTTT		DBF4B	ENSG00000161692.18	transcript	ENST00000315005.8	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
DBF4B_chr17_44703665_44757264	44726323	T T	TATTTATT others(6): Show TATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02630.hp2 HG02723.hp1 others(1): Show HG00558.hp2 HG02630.hp2 HG02723.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0279 others(1): Show a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0280	4	288	0.0139	13	c.225 others(30): Show c.225+3313_225+3314insAATTTATTTATTT		DBF4B	ENSG00000161692.18	transcript	ENST00000315005.8	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
DBF4_chr7_87871493_87914553	87900321	A A	AGACAAGC others(6): Show AGACAAGCACTAGT	frameshift_variant frameshift_variant	HIGH	NA18975.hp2 NA18975.hp2	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0014 a0009c0008t0014	a0009c0008t0014g0054 a0009c0008t0014g0054	1	292	0.0034	13	c.781 others(20): Show c.781_782insGACAAGCACTAGT	p.Met others(5): Show p.Met261fs	DBF4	ENSG00000006634.8	transcript	ENST00000265728.6	protein_coding	9/12	1022/3655	782/2025	261/674			chr7	TogoVar
DBH_chr9_133631363_133664329	133650481	T T	TTTCTTTT others(6): Show TTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02486.hp2 HG02922.hp2 others(4): Show HG02280.hp2 HG02486.hp2 HG02922.hp2 HG03041.hp2 HG03098.hp2 NA18522.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0002c0003 others(1): Show a0001c0001 a0001c0005 a0002c0003 a0003c0008	a0001c0001t0001 a0001c0005t0001 a0002c0003t0001 others(2): Show a0001c0001t0001 a0001c0005t0001 a0002c0003t0001 a0002c0003t0003 a0003c0008t0001	a0001c0001t0001g0280 a0001c0005t0001g0063 a0001c0005t0001g0121 others(4): Show a0001c0001t0001g0280 a0001c0005t0001g0063 a0001c0005t0001g0121 a0001c0005t0001g0123 a0002c0003t0001g0053 a0002c0003t0003g0062 a0003c0008t0001g0116	7	402	0.0174	13	c.119 others(32): Show c.1192-1151_1192-1150insCTTTTCTTTTCTT		DBH	ENSG00000123454.12	transcript	ENST00000393056.8	protein_coding	6/11					INFO_REALIGN_3_PRIME	chr9	TogoVar
DBH_chr9_133631363_133664329	133654116	A A	ATTTTATT others(6): Show ATTTTATTTTATTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01192.hp2 HG01884.hp1 others(3): Show HG00423.hp2 HG01192.hp2 HG01884.hp1 HG02155.hp2 HG02922.hp1 HG03486.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0005 a0002c0030 others(1): Show a0001c0001 a0001c0005 a0002c0030 a0004c0010	a0001c0001t0001 a0001c0005t0001 a0002c0030t0006 others(1): Show a0001c0001t0001 a0001c0005t0001 a0002c0030t0006 a0004c0010t0003	a0001c0001t0001g0217 a0001c0001t0001g0228 a0001c0001t0001g0285 others(3): Show a0001c0001t0001g0217 a0001c0001t0001g0228 a0001c0001t0001g0285 a0001c0005t0001g0168 a0002c0030t0006g0068 a0004c0010t0003g0100	6	402	0.0149	13	c.143 others(32): Show c.1434+1118_1434+1119insTTTATTTTATTTT		DBH	ENSG00000123454.12	transcript	ENST00000393056.8	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr9	TogoVar
DBNDD1_chr16_89999871_90024456	90013262	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	412	0.0024	13	c.32- others(28): Show c.32-3845_32-3833dupTTTTTTTTTTTTT		DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding	1/3						chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90024158	A A	ACACACAC others(6): Show ACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	412	0.0024	13	c.-48 others(24): Show c.-4818_-4817insGTGTGTGTGTGTG		DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding					4703		chr16	TogoVar
DBR1_chr3_138155988_138179921	138175907	G G	GTGTGTGT others(6): Show GTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02647.hp2 HG02258.hp2 HG02647.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0002 a0001c0004t0005 a0001c0003t0002 a0001c0004t0005	a0001c0003t0002g0023 a0001c0004t0005g0015 a0001c0003t0002g0023 a0001c0004t0005g0015	2	370	0.0054	13	c.-11 others(24): Show c.-1113_-1112insACACACACACACA		DBR1	ENSG00000138231.14	transcript	ENST00000260803.9	protein_coding					987		chr3	TogoVar
DCAF10_chr9_37795797_37872664	37814127	T T	TATATATA others(6): Show TATATATATATTTG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0341 a0001c0001t0018g0341	1	356	0.0028	13	c.540 others(30): Show c.540-5161_540-5160insATATATATATTTG		DCAF10	ENSG00000122741.16	transcript	ENST00000377724.8	protein_coding	1/6						chr9	TogoVar
DCAF10_chr9_37795797_37872664	37850882	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0252 a0001c0001t0006g0252	1	356	0.0028	13	c.852 others(30): Show c.852-3898_852-3897insTATATATATATAT		DCAF10	ENSG00000122741.16	transcript	ENST00000377724.8	protein_coding	3/6						chr9	TogoVar
DCAF10_chr9_37795797_37872664	37852965	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0289 a0001c0001t0002g0289	1	356	0.0028	13	c.852 others(30): Show c.852-1814_852-1813insTATATATATATAA		DCAF10	ENSG00000122741.16	transcript	ENST00000377724.8	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr9	TogoVar
DCAF10_chr9_37795797_37872664	37852966	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA18944.hp2 HG02155.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0242 a0001c0001t0001g0122 a0001c0001t0001g0242	2	356	0.0056	13	c.852 others(30): Show c.852-1814_852-1813insTATATATATATAT		DCAF10	ENSG00000122741.16	transcript	ENST00000377724.8	protein_coding	3/6						chr9	TogoVar
DCAF10_chr9_37795797_37872664	37863325	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01123.hp2 HG03831.hp1 HG04199.hp1 others(5): Show HG01123.hp2 HG03831.hp1 HG04199.hp1 NA18944.hp1 NA18960.hp2 NA18965.hp1 NA19057.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0060 a0001c0001t0061 a0001c0001t0009 a0001c0001t0060 a0001c0001t0061	a0001c0001t0009g0013 a0001c0001t0009g0017 a0001c0001t0009g0022 others(5): Show a0001c0001t0009g0013 a0001c0001t0009g0017 a0001c0001t0009g0022 a0001c0001t0009g0033 a0001c0001t0009g0036 a0001c0001t0009g0037 a0001c0001t0060g0011 a0001c0001t0061g0030	8	356	0.0225	13	c.18 others(24): Show c.1829_*1841dupAAAAAAAAAAAAA		DCAF10	ENSG00000122741.16	transcript	ENST00000377724.8	protein_coding	7/7				1842	INFO_REALIGN_3_PRIME	chr9	TogoVar
DCAF13_chr8_103410386_103448453	103418867	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	342	0.0029	13	c.71- others(28): Show c.71-1397_71-1396insATATATATATATA		DCAF13	ENSG00000164934.15	transcript	ENST00000612750.5	protein_coding	1/10						chr8	TogoVar
DCAF1_chr3_51392842_51505015	51451069	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	274	0.0037	13	c.376 others(30): Show c.376-7179_376-7167dupAAAAAAAAAAAAA		DCAF1	ENSG00000145041.17	transcript	ENST00000684031.1	protein_coding	6/24						chr3	TogoVar
DCAF4_chr14_72921464_72964703	72928187	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp2 HG01070.hp1 others(28): Show HG00323.hp2 HG00558.hp2 HG01070.hp1 HG01074.hp2 HG01169.hp1 HG01175.hp1 HG01256.hp1 HG01346.hp2 HG02015.hp1 HG02080.hp2 HG02135.hp2 HG02145.hp1 HG02572.hp1 HG02818.hp2 HG02965.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03471.hp2 HG03834.hp2 NA18943.hp2 NA18948.hp2 NA18971.hp2 NA18973.hp2 NA18998.hp1 NA19002.hp2 NA19086.hp2 NA19090.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0009	a0001c0001 a0001c0002 a0003c0005 others(2): Show a0001c0001 a0001c0002 a0003c0005 a0004c0006 a0009c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0003c0005t0002 a0004c0006t0001 a0009c0012t0001	a0001c0001t0001g0048 a0001c0001t0002g0025 a0001c0001t0002g0035 others(27): Show a0001c0001t0001g0048 a0001c0001t0002g0025 a0001c0001t0002g0035 a0001c0001t0003g0250 a0001c0001t0004g0007 a0001c0001t0004g0253 a0001c0001t0004g0254 a0001c0001t0004g0329 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0110 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0326 a0001c0002t0001g0327 a0001c0002t0001g0328 a0001c0002t0001g0358 a0001c0002t0001g0359 a0001c0002t0001g0361 a0001c0002t0001g0362 a0001c0002t0001g0363 a0003c0005t0002g0055 a0004c0006t0001g0357 a0009c0012t0001g0360	31	396	0.0783	13	c.-9+ others(28): Show c.-9+1655_-9+1667dupTTTTTTTTTTTTT		DCAF4	ENSG00000119599.17	transcript	ENST00000358377.7	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr14	TogoVar
DCAF4_chr14_72921464_72964703	72953763	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0263 a0001c0003t0008g0263	1	396	0.0025	13	c.809 others(28): Show c.809-401_809-400insTATATATATATAT		DCAF4	ENSG00000119599.17	transcript	ENST00000358377.7	protein_coding	9/13						chr14	TogoVar
DCAF6_chr1_167931683_168080836	167967714	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG06807.hp1 HG03041.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0166 a0001c0001t0002g0167	2	266	0.0075	13	c.252 others(30): Show c.252+1007_252+1019dupTTTTTTTTTTTTT		DCAF6	ENSG00000143164.16	transcript	ENST00000367840.4	protein_coding	3/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
DCAF7_chr17_63545477_63599266	63588189	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0210 a0001c0001t0006g0210	1	262	0.0038	13	c.857 others(28): Show c.857-807_857-795dupTTTTTTTTTTTTT		DCAF7	ENSG00000136485.16	transcript	ENST00000614556.5	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr17	TogoVar
DCAF8L2_chrX_27585344_27754942	27587985	A A	AAATATAT others(6): Show AAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0015 a0015	a0015c0016 a0015c0016	a0015c0016t0004 a0015c0016t0004	a0015c0016t0004g0107 a0015c0016t0004g0107	1	262	0.0038	13	c.-27 others(24): Show c.-2797_-2796insAATATATATATAT		DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding					2358		chrX	TogoVar
DCAF8L2_chrX_27585344_27754942	27606307	A A	ATATATAT others(6): Show ATATATATATGAAT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02071.hp1 HG02273.hp1 others(9): Show HG02004.hp2 HG02071.hp1 HG02273.hp1 NA18942.hp2 NA18975.hp2 NA18981.hp2 NA19000.hp1 NA19007.hp1 NA19012.hp1 NA19057.hp2 NA19081.hp1 NA19091.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0003c0003 a0004c0004 a0002c0002 a0003c0003 a0004c0004	a0002c0002t0002 a0003c0003t0001 a0004c0004t0002 a0002c0002t0002 a0003c0003t0001 a0004c0004t0002	a0002c0002t0002g0004 a0002c0002t0002g0007 a0002c0002t0002g0008 others(9): Show a0002c0002t0002g0004 a0002c0002t0002g0007 a0002c0002t0002g0008 a0002c0002t0002g0010 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0046 a0002c0002t0002g0052 a0002c0002t0002g0248 a0003c0003t0001g0011 a0004c0004t0002g0009	12	262	0.0458	13	c.-34 others(34): Show c.-342+15876_-342+15877insGAATTATATATAT		DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding	1/4					INFO_REALIGN_3_PRIME	chrX	TogoVar
DCBLD1_chr6_117477674_117554797	117479103	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0301 a0002c0004t0001g0301	1	370	0.0027	13	c.-36 others(24): Show c.-3679_-3678insTTTTTTTTTTTTT		DCBLD1	ENSG00000164465.19	transcript	ENST00000338728.10	protein_coding					3570		chr6	TogoVar
DCBLD2_chr3_98790941_98906695	98835938	C C	CTTTCTTT others(6): Show CTTTCTTTCTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01069.hp1 HG01071.hp1 others(8): Show HG00099.hp1 HG01069.hp1 HG01071.hp1 HG01167.hp2 HG01516.hp1 HG02300.hp1 HG02698.hp2 HG03209.hp1 HG06807.hp1 NA19030.hp1 NA20300.hp1	a0001 a0001	a0001c0005 a0001c0017 a0001c0005 a0001c0017	a0001c0005t0006 a0001c0005t0035 a0001c0017t0038 a0001c0005t0006 a0001c0005t0035 a0001c0017t0038	a0001c0005t0006g0001 a0001c0005t0006g0128 a0001c0005t0006g0129 others(6): Show a0001c0005t0006g0001 a0001c0005t0006g0128 a0001c0005t0006g0129 a0001c0005t0006g0130 a0001c0005t0006g0132 a0001c0005t0006g0133 a0001c0005t0006g0134 a0001c0005t0035g0135 a0001c0017t0038g0143	11	330	0.0333	13	c.572 others(32): Show c.572-10573_572-10572insAAAAAGAAAGAAA		DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	3/15						chr3	TogoVar
DCBLD2_chr3_98790941_98906695	98870745	G G	GAAAGAAA others(6): Show GAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01257.hp2 HG02602.hp2 others(6): Show HG00438.hp1 HG01257.hp2 HG02602.hp2 NA18947.hp2 NA18950.hp1 NA18955.hp2 NA18972.hp2 NA18973.hp1 NA19064.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0012 others(1): Show a0001c0002t0002 a0001c0002t0005 a0001c0002t0012 a0001c0002t0017	a0001c0002t0002g0041 a0001c0002t0005g0008 a0001c0002t0005g0060 others(6): Show a0001c0002t0002g0041 a0001c0002t0005g0008 a0001c0002t0005g0060 a0001c0002t0012g0036 a0001c0002t0012g0037 a0001c0002t0012g0038 a0001c0002t0017g0039 a0001c0002t0017g0040 a0001c0002t0017g0044	9	330	0.0273	13	c.433 others(32): Show c.433+10782_433+10794dupTCTTTCTTTCTTT		DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	2/15						chr3	TogoVar
DCBLD2_chr3_98790941_98906695	98876412	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02165.hp2 HG02965.hp2 others(2): Show HG00280.hp2 HG02165.hp2 HG02965.hp2 NA19074.hp1 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0006 a0001c0002 a0003c0006	a0001c0002t0019 a0003c0006t0007 a0003c0006t0044 a0001c0002t0019 a0003c0006t0007 a0003c0006t0044	a0001c0002t0019g0155 a0001c0002t0019g0156 a0003c0006t0007g0163 others(2): Show a0001c0002t0019g0155 a0001c0002t0019g0156 a0003c0006t0007g0163 a0003c0006t0007g0169 a0003c0006t0044g0158	5	330	0.0152	13	c.433 others(30): Show c.433+5115_433+5127dupTTTTTTTTTTTTT		DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	2/15						chr3	TogoVar
DCC_chr18_52335197_53540899	52418861	T T	TCTTTCTT others(6): Show TCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0054 a0002c0001t0001g0054	1	114	0.0088	13	c.91+ others(30): Show c.91+77983_91+77984insCTTTCTTTCTTTC		DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	1/28						chr18	TogoVar
DCC_chr18_52335197_53540899	52515606	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01433.hp1 HG01993.hp2 others(1): Show HG01255.hp1 HG01433.hp1 HG01993.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0001c0008 a0002c0001 others(1): Show a0001c0007 a0001c0008 a0002c0001 a0002c0011	a0001c0007t0003 a0001c0008t0026 a0002c0001t0002 others(1): Show a0001c0007t0003 a0001c0008t0026 a0002c0001t0002 a0002c0011t0003	a0001c0007t0003g0026 a0001c0008t0026g0095 a0002c0001t0002g0018 others(1): Show a0001c0007t0003g0026 a0001c0008t0026g0095 a0002c0001t0002g0018 a0002c0011t0003g0090	4	114	0.0351	13	c.91+ others(32): Show c.91+174736_91+174748dupAAAAAAAAAAAAA		DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	52783323	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01346.hp2 HG02572.hp2 others(3): Show HG01106.hp2 HG01346.hp2 HG02572.hp2 HG03098.hp1 NA20129.hp1 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0008 a0002c0001 a0002c0025 others(1): Show a0001c0008 a0002c0001 a0002c0025 a0003c0024	a0001c0008t0023 a0002c0001t0001 a0002c0001t0002 others(3): Show a0001c0008t0023 a0002c0001t0001 a0002c0001t0002 a0002c0001t0018 a0002c0025t0001 a0003c0024t0009	a0001c0008t0023g0098 a0002c0001t0001g0093 a0002c0001t0002g0018 others(3): Show a0001c0008t0023g0098 a0002c0001t0001g0093 a0002c0001t0002g0018 a0002c0001t0018g0034 a0002c0025t0001g0015 a0003c0024t0009g0002	6	114	0.0526	13	c.412 others(32): Show c.412+30975_412+30987dupTTTTTTTTTTTTT		DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	2/28					INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	52856625	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA19030.hp2 HG02572.hp1 NA19030.hp2	a0002 a0002	a0002c0001 a0002c0020 a0002c0001 a0002c0020	a0002c0001t0002 a0002c0020t0007 a0002c0001t0002 a0002c0020t0007	a0002c0001t0002g0107 a0002c0020t0007g0113 a0002c0001t0002g0107 a0002c0020t0007g0113	2	114	0.0175	13	c.413 others(32): Show c.413-49413_413-49401dupAAAAAAAAAAAAA		DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	2/28					INFO_REALIGN_3_PRIME	chr18	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)