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.

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
GUCY2C_chr12_14607632_14701599	14696920	TTATATAT others(14): Show TTATATATATATATAAAGTATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp1 NA19088.hp2 NA19090.hp2 NA18983.hp1 NA19088.hp2 NA19090.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0001 a0001c0003t0001 a0001c0004t0001	a0001c0003t0001g0019 a0001c0004t0001g0020 a0001c0004t0001g0021 a0001c0003t0001g0019 a0001c0004t0001g0020 a0001c0004t0001g0021	3	236	0.0127	-21	c.-49 others(30): Show c.-493_-473delTATACTTTATATATATATATA		GUCY2C	ENSG00000070019.5	transcript	ENST00000261170.5	protein_coding					322		chr12	TogoVar
GUSB_chr7_65955684_65987213	65963570	AAGTCTCA others(14): Show AAGTCTCACTCTGTTGTCCAGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(138): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp2 HG00642.hp1 HG00738.hp1 HG00741.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01943.hp2 HG01978.hp1 HG02004.hp1 HG02040.hp1 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02523.hp1 HG02572.hp1 HG02602.hp1 HG02622.hp1 HG02647.hp1 HG02738.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp2 HG03209.hp1 HG03239.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04199.hp1 HG04204.hp1 HG06807.hp1 NA18612.hp2 NA18939.hp2 NA18940.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18949.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18959.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18992.hp2 NA18993.hp2 NA18997.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19005.hp2 NA19011.hp1 NA19012.hp2 NA19054.hp1 NA19057.hp2 NA19060.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19072.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19089.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0005 a0001c0006 others(5): Show a0001c0001 a0001c0005 a0001c0006 a0001c0010 a0001c0013 a0002c0002 a0003c0008 a0004c0009	a0001c0001t0001 a0001c0005t0001 a0001c0006t0001 others(5): Show a0001c0001t0001 a0001c0005t0001 a0001c0006t0001 a0001c0010t0001 a0001c0013t0001 a0002c0002t0001 a0003c0008t0001 a0004c0009t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(61): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0103 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0005t0001g0124 a0001c0005t0001g0142 a0001c0006t0001g0040 a0001c0010t0001g0123 a0001c0013t0001g0173 a0002c0002t0001g0129 a0003c0008t0001g0072 a0004c0009t0001g0121	141	418	0.3373	-21	c.178 others(38): Show c.1789+732_1789+752delCCTGGACAACAGAGTGAGACT		GUSB	ENSG00000169919.17	transcript	ENST00000304895.9	protein_coding	11/11						chr7	TogoVar
GYPC_chr2_126651158_126701667	126656660	GTTAGGTG others(14): Show GTTAGGTGAGAGTTCACATCAC	G G	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	416	0.0024	-21	c.49+ others(34): Show c.49+349_49+369delTTAGGTGAGAGTTCACATCAC		GYPC	ENSG00000136732.16	transcript	ENST00000259254.9	protein_coding	1/3						chr2	TogoVar
GYS1_chr19_48963130_48998309	48979336	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	390	0.0026	-21	c.117 others(40): Show c.1170-1200_1170-1180delAAAAAAAAAAAAAAAAAAAAA		GYS1	ENSG00000104812.15	transcript	ENST00000323798.8	protein_coding	8/15						chr19	TogoVar
GZF1_chr20_23357182_23378062	23365273	CGGAGGAG others(14): Show CGGAGGAGGAAGAGGAGGAGGA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02145.hp1 HG02145.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0006 a0006c0012t0006	a0006c0012t0006g0026 a0006c0012t0006g0026	1	428	0.0023	-21	c.900 others(28): Show c.900_920delAGAGGAGGAGGAGGAGGAGGA	p.Glu others(13): Show p.Glu300_Glu306del	GZF1	ENSG00000125812.16	transcript	ENST00000338121.10	protein_coding	2/6	977/4834	900/2136	300/711		INFO_REALIGN_3_PRIME	chr20	TogoVar
H1-8_chr3_129538175_129556467	129540497	TATATATA others(14): Show TATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	422	0.0024	-21	c.-27 others(32): Show c.-2721_-2701delATATATATATATATATATATA		H1-8	ENSG00000178804.8	transcript	ENST00000324382.7	protein_coding					2677		chr3	TogoVar
H4C15_chr1_149855764_149866159	149865941	AAAAAAAA others(14): Show AAAAAAAAAAGAAAGAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	206	0.0049	-21	c.-48 others(32): Show c.-4831_-4811delCTTTCTTCTTTCTTTTTTTTT		H4C15	ENSG00000270276.3	transcript	ENST00000579512.3	protein_coding					4783		chr1	TogoVar
H4C15_chr1_149855764_149866159	149865953	AAGAAGAA others(14): Show AAGAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	206	0.0049	-21	c.-48 others(32): Show c.-4843_-4823delCTTTCTTTCTTTCTTTCTTCT		H4C15	ENSG00000270276.3	transcript	ENST00000579512.3	protein_coding					4795		chr1	TogoVar
HACD3_chr15_65525463_65583349	65537943	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0019 a0004c0004t0019	a0004c0004t0019g0021 a0004c0004t0019g0021	1	328	0.0031	-21	c.87+ others(36): Show c.87+7227_87+7247delAAAAAAAAAAAAAAATATATA		HACD3	ENSG00000074696.13	transcript	ENST00000261875.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr15	TogoVar
HACD3_chr15_65525463_65583349	65537945	AAAAAAAA others(14): Show AAAAAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA19056.hp2 HG02717.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0105 a0001c0001t0002g0252 a0001c0001t0001g0105 a0001c0001t0002g0252	2	328	0.0061	-21	c.87+ others(36): Show c.87+7229_87+7249delAAAAAAAAAAAAATATATATA		HACD3	ENSG00000074696.13	transcript	ENST00000261875.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr15	TogoVar
HACD3_chr15_65525463_65583349	65537947	AAAAAAAA others(14): Show AAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA18968.hp2 HG04184.hp1 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0098 a0001c0001t0001g0032 a0001c0001t0001g0098	2	328	0.0061	-21	c.87+ others(36): Show c.87+7231_87+7251delAAAAAAAAAAATATATATATA		HACD3	ENSG00000074696.13	transcript	ENST00000261875.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr15	TogoVar
HACD3_chr15_65525463_65583349	65537949	AAAAAAAA others(14): Show AAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp2 NA19087.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0073 a0001c0001t0001g0074	2	328	0.0061	-21	c.87+ others(36): Show c.87+7233_87+7253delAAAAAAAAATATATATATATA		HACD3	ENSG00000074696.13	transcript	ENST00000261875.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr15	TogoVar
HACD3_chr15_65525463_65583349	65537953	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0208 a0001c0002t0002g0208	1	328	0.0031	-21	c.87+ others(36): Show c.87+7237_87+7257delAAAAATATATATATATATATA		HACD3	ENSG00000074696.13	transcript	ENST00000261875.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr15	TogoVar
HAGH_chr16_1802629_1831825	1820036	TGGGCTGC others(14): Show TGGGCTGCCTGCTGAGCTGAGG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(256): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18945.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18967.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp2 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0006 a0009 a0011	a0001c0001 a0001c0003 a0001c0005 others(9): Show a0001c0001 a0001c0003 a0001c0005 a0001c0008 a0001c0016 a0002c0002 a0002c0010 a0003c0006 a0005c0019 a0006c0018 a0009c0015 a0011c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0037 a0001c0001t0039 a0001c0003t0002 a0001c0003t0003 a0001c0005t0001 a0001c0008t0005 a0001c0016t0001 a0002c0002t0001 a0002c0002t0004 a0002c0002t0028 a0002c0002t0029 a0002c0010t0001 a0003c0006t0002 a0005c0019t0003 a0006c0018t0001 a0009c0015t0005 a0011c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(178): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0120 a0001c0001t0001g0147 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0042 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0239 a0001c0001t0002g0256 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0003g0209 a0001c0001t0003g0227 a0001c0001t0004g0041 a0001c0001t0004g0162 a0001c0001t0004g0284 a0001c0001t0005g0005 a0001c0001t0005g0006 a0001c0001t0005g0019 a0001c0001t0005g0048 a0001c0001t0005g0268 a0001c0001t0005g0269 a0001c0001t0005g0270 a0001c0001t0005g0287 a0001c0001t0005g0288 a0001c0001t0005g0289 a0001c0001t0005g0290 a0001c0001t0005g0291 a0001c0001t0005g0292 a0001c0001t0005g0293 a0001c0001t0005g0294 a0001c0001t0005g0295 a0001c0001t0005g0296 a0001c0001t0005g0297 a0001c0001t0005g0299 a0001c0001t0005g0301 a0001c0001t0006g0169 a0001c0001t0006g0201 a0001c0001t0006g0202 a0001c0001t0006g0248 a0001c0001t0006g0249 a0001c0001t0006g0267 a0001c0001t0008g0039 a0001c0001t0008g0167 a0001c0001t0008g0170 a0001c0001t0008g0173 a0001c0001t0008g0194 a0001c0001t0008g0198 a0001c0001t0008g0216 a0001c0001t0009g0168 a0001c0001t0009g0187 a0001c0001t0009g0196 a0001c0001t0009g0210 a0001c0001t0009g0213 a0001c0001t0009g0243 a0001c0001t0010g0043 a0001c0001t0010g0045 a0001c0001t0010g0160 a0001c0001t0018g0172 a0001c0001t0018g0238 a0001c0001t0019g0189 a0001c0001t0019g0234 a0001c0001t0021g0214 a0001c0001t0024g0303 a0001c0001t0025g0149 a0001c0001t0026g0148 a0001c0001t0030g0178 a0001c0001t0031g0193 a0001c0001t0032g0200 a0001c0001t0037g0247 a0001c0001t0039g0228 a0001c0003t0002g0131 a0001c0003t0003g0031 a0001c0003t0003g0032 a0001c0003t0003g0125 a0001c0003t0003g0126 a0001c0003t0003g0127 a0001c0003t0003g0128 a0001c0003t0003g0129 a0001c0003t0003g0130 a0001c0003t0003g0132 a0001c0003t0003g0133 a0001c0003t0003g0134 a0001c0003t0003g0135 a0001c0005t0001g0050 a0001c0005t0001g0313 a0001c0005t0001g0314 a0001c0005t0001g0315 a0001c0005t0001g0316 a0001c0008t0005g0052 a0001c0016t0001g0250 a0002c0002t0001g0020 a0002c0002t0001g0307 a0002c0002t0004g0007 a0002c0002t0004g0047 a0002c0002t0004g0049 a0002c0002t0004g0305 a0002c0002t0004g0306 a0002c0002t0004g0308 a0002c0002t0004g0310 a0002c0002t0004g0312 a0002c0002t0028g0311 a0002c0002t0029g0309 a0002c0010t0001g0304 a0003c0006t0002g0037 a0003c0006t0002g0186 a0005c0019t0003g0317 a0006c0018t0001g0257 a0009c0015t0005g0298 a0011c0011t0001g0206	259	436	0.5940	-21	c.315 others(34): Show c.315-43_315-23delCCTCAGCTCAGCAGGCAGCCC		HAGH	ENSG00000063854.13	transcript	ENST00000397356.8	protein_coding	3/8						chr16	TogoVar
HAO1_chr20_7877985_7945458	7903858	CGGTGGTG others(14): Show CGGTGGTGGTGGTGGTGGTGGT	C C	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA19002.hp2 NA18943.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0040 a0001c0001t0002g0170 a0001c0001t0001g0040 a0001c0001t0002g0170	2	348	0.0058	-21	c.721 others(38): Show c.721+2275_721+2295delACCACCACCACCACCACCACC		HAO1	ENSG00000101323.5	transcript	ENST00000378789.4	protein_coding	4/7						chr20	TogoVar
HAPLN1_chr5_83632805_83725855	83663880	TCTCACCT others(14): Show TCTCACCTGAACTTTCAAGATC	T T	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0237 a0001c0002t0002g0237	1	372	0.0027	-21	c.100 others(38): Show c.100+9523_100+9543delGATCTTGAAAGTTCAGGTGAG		HAPLN1	ENSG00000145681.11	transcript	ENST00000274341.9	protein_coding	2/4						chr5	TogoVar
HAT1_chr2_171917461_171988686	171970496	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02559.hp2 HG01099.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0219 a0001c0001t0001g0136 a0001c0001t0001g0219	2	326	0.0061	-21	c.823 others(38): Show c.823+3568_823+3588delTTTTTTTTTTTTTTTTTTTTT		HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr2	TogoVar
HAUS2_chr15_42543838_42574994	42556520	CTCCAAAG others(14): Show CTCCAAAGTTCGGGATTACGGG	C C	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	350	0.0029	-21	c.94- others(36): Show c.94-1677_94-1657delTCCAAAGTTCGGGATTACGGG		HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5						chr15	TogoVar
HAUS8_chr19_17044729_17080452	17055142	AAATATAT others(14): Show AAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0293 a0001c0002t0002g0293	1	400	0.0025	-21	c.787 others(36): Show c.787+698_787+718delATATATATATATATATATATT		HAUS8	ENSG00000131351.15	transcript	ENST00000253669.10	protein_coding	9/10						chr19	TogoVar
HAUS8_chr19_17044729_17080452	17055144	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0252 a0001c0002t0001g0252	1	400	0.0025	-21	c.787 others(36): Show c.787+696_787+716delATATATATATATATATATATA		HAUS8	ENSG00000131351.15	transcript	ENST00000253669.10	protein_coding	9/10						chr19	TogoVar
HAVCR1_chr5_157024413_157064116	157044395	AGGAAGGA others(14): Show AGGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	352	0.0028	-21	c.782 others(38): Show c.782-1734_782-1714delCTTCCTTCCTTCCTTCCTTCC		HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8						chr5	TogoVar
HAVCR1_chr5_157024413_157064116	157044397	GAAGGAAG others(14): Show GAAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	352	0.0028	-21	c.782 others(38): Show c.782-1736_782-1716delTCCTTCCTTCCTTCCTTCCTT		HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8						chr5	TogoVar
HAVCR2_chr5_157080832_157114044	157092878	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03942.hp1 NA20129.hp1 HG03942.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0117 a0002c0002t0002g0275 a0001c0001t0001g0117 a0002c0002t0002g0275	2	380	0.0053	-21	c.676 others(38): Show c.676+2407_676+2427delTTTTTTTTTTTTTTTTTTTTT		HAVCR2	ENSG00000135077.10	transcript	ENST00000307851.9	protein_coding	5/6						chr5	TogoVar
HBA1_chr16_171680_182522	182398	GAGTGAGA others(14): Show GAGTGAGACTCCGTCTCAGAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	398	0.0025	-21	c.49 others(32): Show c.4988_*5008delAGTGAGACTCCGTCTCAGAAA		HBA1	ENSG00000206172.8	transcript	ENST00000320868.9	protein_coding					4877		chr16	TogoVar
HBS1L_chr6_134955378_135059822	135035750	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA19000.hp1 HG02280.hp2 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0004 a0001c0007t0028 a0001c0002t0004 a0001c0007t0028	a0001c0002t0004g0198 a0001c0007t0028g0306 a0001c0002t0004g0198 a0001c0007t0028g0306	2	348	0.0058	-21	c.430 others(38): Show c.430+3802_430+3822delTTTTTTTTTTTTTTTTTTTTT		HBS1L	ENSG00000112339.15	transcript	ENST00000367837.10	protein_coding	4/17						chr6	TogoVar
HCK_chr20_32047242_32106856	32054475	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01884.hp2 HG02055.hp1 others(2): Show HG01361.hp1 HG01884.hp2 HG02055.hp1 HG02572.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0002t0001g0214 others(2): Show a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0257	5	290	0.0172	-21	c.62+ others(36): Show c.62+2018_62+2038delAAAAAAAAAAAAAAAAAAAAA		HCK	ENSG00000101336.18	transcript	ENST00000375852.5	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr20	TogoVar
HCN1_chr5_45249948_45701380	45431990	TACAAATA others(14): Show TACAAATAGCATTGAATCTGCA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	226	0.0044	-21	c.101 others(42): Show c.1011+29835_1011+29855delTGCAGATTCAATGCTATTTGT		HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	3/7						chr5	TogoVar
HCN2_chr19_584881_622159	613506	GCGCCTGG others(14): Show GCGCCTGGAGGGGGAGGGGGCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG01070.hp1 others(18): Show HG00099.hp1 HG00639.hp1 HG01070.hp1 HG01071.hp2 HG01106.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01255.hp1 HG01496.hp1 HG01975.hp2 HG02257.hp1 HG02717.hp2 HG03139.hp2 HG03927.hp1 HG04184.hp2 NA19085.hp2 NA20752.hp1 NA20905.hp2	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0014 a0015 a0019	a0001c0015 a0001c0034 a0001c0041 others(10): Show a0001c0015 a0001c0034 a0001c0041 a0001c0096 a0001c0102 a0002c0005 a0002c0028 a0002c0035 a0002c0038 a0006c0047 a0014c0087 a0015c0086 a0019c0122	a0001c0015t0005 a0001c0034t0005 a0001c0041t0001 others(12): Show a0001c0015t0005 a0001c0034t0005 a0001c0041t0001 a0001c0096t0003 a0001c0102t0005 a0002c0005t0003 a0002c0028t0001 a0002c0028t0004 a0002c0028t0005 a0002c0035t0005 a0002c0038t0005 a0006c0047t0003 a0014c0087t0005 a0015c0086t0005 a0019c0122t0004	a0001c0015t0005g0007 a0001c0015t0005g0144 a0001c0034t0005g0035 others(16): Show a0001c0015t0005g0007 a0001c0015t0005g0144 a0001c0034t0005g0035 a0001c0041t0001g0019 a0001c0096t0003g0117 a0001c0102t0005g0240 a0002c0005t0003g0272 a0002c0005t0003g0276 a0002c0005t0003g0322 a0002c0028t0001g0330 a0002c0028t0004g0284 a0002c0028t0005g0280 a0002c0035t0005g0343 a0002c0035t0005g0349 a0002c0038t0005g0338 a0006c0047t0003g0002 a0014c0087t0005g0220 a0015c0086t0005g0133 a0019c0122t0004g0102	21	408	0.0515	-21	c.182 others(36): Show c.1825+22_1825+42delCTGGAGGGGGAGGGGGCACGC		HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	620999	CGCCGGGG others(14): Show CGCCGGGGGAGGGCGCGGGGGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG00597.hp2 others(68): Show HG00438.hp2 HG00544.hp2 HG00597.hp2 HG01109.hp2 HG01243.hp2 HG01256.hp2 HG01884.hp1 HG01891.hp1 HG01978.hp2 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02135.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp2 HG02486.hp1 HG02559.hp2 HG02602.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03540.hp1 HG03579.hp2 HG03688.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18942.hp1 NA18944.hp2 NA18948.hp1 NA18970.hp2 NA19000.hp2 NA19007.hp1 NA19009.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19090.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0009 a0010 a0016 a0019	a0001c0001 a0001c0002 a0001c0003 others(36): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0008 a0001c0013 a0001c0020 a0001c0024 a0001c0025 a0001c0026 a0001c0030 a0001c0032 a0001c0034 a0001c0041 a0001c0076 a0001c0077 a0001c0079 a0001c0082 a0001c0083 a0001c0084 a0001c0099 a0001c0108 a0001c0114 a0002c0004 a0002c0010 a0002c0012 a0002c0016 a0002c0019 a0002c0050 a0002c0068 a0003c0029 a0004c0121 a0005c0043 a0005c0110 a0009c0061 a0010c0069 a0016c0080 a0019c0122	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(52): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0004 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0007 a0001c0006t0002 a0001c0006t0004 a0001c0007t0001 a0001c0008t0002 a0001c0008t0004 a0001c0008t0007 a0001c0013t0001 a0001c0020t0003 a0001c0020t0004 a0001c0024t0002 a0001c0025t0001 a0001c0025t0004 a0001c0025t0005 a0001c0026t0004 a0001c0030t0004 a0001c0032t0004 a0001c0034t0004 a0001c0041t0001 a0001c0076t0001 a0001c0077t0004 a0001c0079t0004 a0001c0082t0004 a0001c0083t0009 a0001c0084t0004 a0001c0099t0004 a0001c0108t0004 a0001c0114t0004 a0002c0004t0001 a0002c0004t0003 a0002c0004t0004 a0002c0004t0006 a0002c0004t0017 a0002c0010t0001 a0002c0012t0001 a0002c0012t0004 a0002c0016t0001 a0002c0019t0004 a0002c0050t0002 a0002c0068t0004 a0003c0029t0004 a0004c0121t0004 a0005c0043t0006 a0005c0110t0006 a0009c0061t0001 a0010c0069t0001 a0016c0080t0004 a0019c0122t0004	a0001c0001t0001g0137 a0001c0001t0001g0188 a0001c0001t0002g0016 others(67): Show a0001c0001t0001g0137 a0001c0001t0001g0188 a0001c0001t0002g0016 a0001c0001t0002g0025 a0001c0001t0004g0068 a0001c0001t0004g0168 a0001c0001t0004g0229 a0001c0001t0004g0387 a0001c0002t0004g0183 a0001c0003t0001g0180 a0001c0003t0001g0206 a0001c0003t0001g0230 a0001c0003t0001g0231 a0001c0003t0002g0179 a0001c0003t0004g0012 a0001c0003t0007g0067 a0001c0006t0002g0107 a0001c0006t0004g0072 a0001c0007t0001g0066 a0001c0007t0001g0193 a0001c0008t0002g0379 a0001c0008t0004g0228 a0001c0008t0004g0375 a0001c0008t0004g0385 a0001c0008t0007g0004 a0001c0013t0001g0198 a0001c0020t0003g0115 a0001c0020t0004g0030 a0001c0024t0002g0014 a0001c0025t0001g0050 a0001c0025t0004g0059 a0001c0025t0005g0049 a0001c0026t0004g0051 a0001c0030t0004g0378 a0001c0032t0004g0100 a0001c0032t0004g0374 a0001c0032t0004g0381 a0001c0034t0004g0044 a0001c0041t0001g0019 a0001c0076t0001g0029 a0001c0077t0004g0382 a0001c0079t0004g0028 a0001c0082t0004g0208 a0001c0083t0009g0097 a0001c0084t0004g0101 a0001c0099t0004g0377 a0001c0108t0004g0043 a0001c0114t0004g0041 a0002c0004t0001g0303 a0002c0004t0003g0341 a0002c0004t0004g0325 a0002c0004t0004g0364 a0002c0004t0006g0353 a0002c0004t0017g0259 a0002c0010t0001g0354 a0002c0012t0001g0345 a0002c0012t0004g0256 a0002c0016t0001g0306 a0002c0019t0004g0298 a0002c0050t0002g0361 a0002c0068t0004g0358 a0003c0029t0004g0104 a0004c0121t0004g0236 a0005c0043t0006g0108 a0005c0043t0006g0109 a0005c0110t0006g0046 a0009c0061t0001g0356 a0010c0069t0001g0307 a0016c0080t0004g0386 a0019c0122t0004g0102	71	408	0.1740	-21	c.45 others(32): Show c.4526_*4546delGCCGGGGGAGGGCGCGGGGGT		HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding					3841		chr19	TogoVar
HCN3_chr1_155272463_155294848	155290989	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG02630.hp1 others(4): Show HG01109.hp2 HG01884.hp1 HG02630.hp1 HG03471.hp2 HG03516.hp2 NA19030.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0010 a0001c0001t0005 a0001c0001t0010	a0001c0001t0005g0025 a0001c0001t0005g0043 a0001c0001t0005g0052 others(3): Show a0001c0001t0005g0025 a0001c0001t0005g0043 a0001c0001t0005g0052 a0001c0001t0005g0085 a0001c0001t0005g0086 a0001c0001t0010g0062	7	339	0.0207	-21	c.25 others(32): Show c.2527_*2547delAATAATAATAATAATAATAAT		HCN3	ENSG00000143630.10	transcript	ENST00000368358.4	protein_coding					1142		chr1	TogoVar
HCRTR2_chr6_55169515_55287617	55187411	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp2 others(148): Show HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02148.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03669.hp2 HG03710.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp2 NA18941.hp1 NA18942.hp1 NA18944.hp1 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18955.hp1 NA18956.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18968.hp1 NA18969.hp1 NA18979.hp2 NA18981.hp1 NA18984.hp2 NA18991.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA19001.hp1 NA19003.hp1 NA19004.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19054.hp2 NA19056.hp2 NA19062.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19090.hp1 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0006 a0007	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0001c0011 a0002c0002 a0004c0007 a0005c0008 a0006c0009 a0007c0012	a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0011t0001 a0002c0002t0001 a0004c0007t0001 a0005c0008t0001 a0006c0009t0001 a0007c0012t0001	a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0017 others(147): Show a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0194 a0001c0001t0001g0254 a0001c0001t0001g0262 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0319 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0329 a0001c0001t0001g0341 a0001c0001t0001g0345 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0356 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0365 a0001c0001t0004g0083 a0001c0003t0001g0012 a0001c0003t0001g0272 a0001c0003t0002g0153 a0001c0003t0002g0357 a0001c0004t0001g0081 a0001c0011t0001g0274 a0002c0002t0001g0096 a0002c0002t0001g0113 a0002c0002t0001g0122 a0002c0002t0001g0125 a0002c0002t0001g0155 a0002c0002t0001g0158 a0002c0002t0001g0163 a0002c0002t0001g0318 a0002c0002t0001g0320 a0002c0002t0001g0338 a0002c0002t0001g0339 a0002c0002t0001g0340 a0002c0002t0001g0342 a0002c0002t0001g0343 a0002c0002t0001g0344 a0002c0002t0001g0350 a0002c0002t0001g0351 a0002c0002t0001g0355 a0002c0002t0001g0360 a0004c0007t0001g0303 a0005c0008t0001g0033 a0006c0009t0001g0346 a0007c0012t0001g0140	151	368	0.4103	-21	c.223 others(40): Show c.223+12619_223+12639delAAAAAAAAAAAAAAAAAAAAA		HCRTR2	ENSG00000137252.10	transcript	ENST00000370862.4	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
HDAC4_chr2_239043168_239406020	239155413	TATGGCCC others(14): Show TATGGCCCACTCCACCTGGGAC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp2 HG02015.hp1 others(9): Show HG00438.hp1 HG00673.hp2 HG02015.hp1 HG02145.hp2 HG02717.hp2 HG02738.hp1 HG02895.hp1 HG02896.hp1 HG03486.hp1 HG03516.hp1 NA19030.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0032 a0001c0035	a0001c0001t0001 a0001c0001t0006 a0001c0001t0017 others(8): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0017 a0001c0001t0021 a0001c0001t0060 a0001c0002t0001 a0001c0004t0059 a0001c0005t0001 a0001c0005t0007 a0001c0032t0001 a0001c0035t0067	a0001c0001t0001g0114 a0001c0001t0006g0189 a0001c0001t0006g0227 others(9): Show a0001c0001t0001g0114 a0001c0001t0006g0189 a0001c0001t0006g0227 a0001c0001t0017g0027 a0001c0001t0021g0137 a0001c0001t0060g0084 a0001c0002t0001g0115 a0001c0004t0059g0006 a0001c0005t0001g0128 a0001c0005t0007g0032 a0001c0032t0001g0048 a0001c0035t0067g0043	12	242	0.0496	-21	c.733 others(38): Show c.733+1218_733+1238delGTCCCAGGTGGAGTGGGCCAT		HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	7/26						chr2	TogoVar
HDAC4_chr2_239043168_239406020	239357888	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02976.hp2 NA19030.hp1 others(1): Show HG02818.hp1 HG02976.hp2 NA19030.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0035 a0001c0001 a0001c0004 a0001c0035	a0001c0001t0001 a0001c0001t0004 a0001c0004t0062 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0004t0062 a0001c0035t0067	a0001c0001t0001g0231 a0001c0001t0004g0232 a0001c0004t0062g0075 others(1): Show a0001c0001t0001g0231 a0001c0001t0004g0232 a0001c0004t0062g0075 a0001c0035t0067g0043	4	242	0.0165	-21	c.-21 others(40): Show c.-219-4991_-219-4971delTTTTTTTTTTTTTTTTTTTTT		HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	1/26						chr2	TogoVar
HDAC5_chr17_44071753_44128641	44096583	CCTGCCTC others(14): Show CCTGCCTCAGCCCCGCAAGTAG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02258.hp2 HG02280.hp1 others(4): Show HG01243.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG03486.hp1 HG03579.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0003c0003t0006 a0001c0001t0001 a0001c0001t0003 a0003c0003t0006	a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0003g0236 others(4): Show a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0003g0236 a0003c0003t0006g0222 a0003c0003t0006g0228 a0003c0003t0006g0229 a0003c0003t0006g0230	7	296	0.0237	-21	c.95- others(36): Show c.95-2770_95-2750delCTACTTGCGGGGCTGAGGCAG		HDAC5	ENSG00000108840.16	transcript	ENST00000682912.1	protein_coding	3/26						chr17	TogoVar
HDC_chr15_50236947_50270726	50240886	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03704.hp2 NA20805.hp1 HG03017.hp2 HG03704.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0114 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0114	3	418	0.0072	-21	c.13 others(32): Show c.1353_*1373delTTTTTTTTTTTTTTTTTTTTT		HDC	ENSG00000140287.11	transcript	ENST00000267845.8	protein_coding					1060		chr15	TogoVar
HDDC2_chr6_125270350_125306967	125278351	TTCACAAA others(14): Show TTCACAAAAGGAAATGGAATAC	T T	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	374	0.0027	-21	c.379 others(38): Show c.379-1132_379-1112delGTATTCCATTTCCTTTTGTGA		HDDC2	ENSG00000111906.18	transcript	ENST00000398153.7	protein_coding	4/5						chr6	TogoVar
HEATR4_chr14_73473484_73563947	73477065	TATATATA others(14): Show TATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0018 a0018	a0018c0036 a0018c0036	a0018c0036t0010 a0018c0036t0010	a0018c0036t0010g0029 a0018c0036t0010g0029	1	368	0.0027	-21	c.15 others(32): Show c.1520_*1540delTATATATATATATATATATAT		HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding					1418		chr14	TogoVar
HEATR4_chr14_73473484_73563947	73477082	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0348 a0001c0002t0002g0348	1	368	0.0027	-21	c.15 others(32): Show c.1503_*1523delAAAAAAAAATATATATATATA		HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding					1401		chr14	TogoVar
HEATR4_chr14_73473484_73563947	73477084	ATATATAT others(14): Show ATATATATATATTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp1 NA19067.hp2 NA18939.hp1 NA19067.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0291 a0001c0002t0002g0316 a0001c0002t0002g0291 a0001c0002t0002g0316	2	368	0.0054	-21	c.15 others(32): Show c.1501_*1521delAAAAAAAAAAATATATATATA		HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding					1399		chr14	TogoVar
HEATR4_chr14_73473484_73563947	73477086	ATATATAT others(14): Show ATATATATATTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp1 NA18973.hp1 NA18957.hp1 NA18973.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0002 a0001c0002t0003	a0001c0002t0002g0301 a0001c0002t0003g0249 a0001c0002t0002g0301 a0001c0002t0003g0249	2	368	0.0054	-21	c.14 others(32): Show c.1499_*1519delAAAAAAAAAAAAATATATATA		HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding					1397		chr14	TogoVar
HEATR4_chr14_73473484_73563947	73535469	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0358 a0001c0006t0003g0359 a0001c0006t0003g0358 a0001c0006t0003g0359	2	368	0.0054	-21	c.-15 others(40): Show c.-151-5246_-151-5226delAAAAAAAAAAAAAAAAAAAAA		HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	1/17						chr14	TogoVar
HEATR5B_chr2_36975895_37089372	36978081	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0181 a0001c0004t0001g0181	1	314	0.0032	-21	c.33 others(32): Show c.3388_*3408delGTTTTTTTTTTTTTTTTTTTT		HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding					2813		chr2	TogoVar
HECW1_chr7_43107647_43571001	43488351	GAAGGAAG others(14): Show GAAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0145 a0001c0003t0001g0145	1	182	0.0055	-21	c.323 others(40): Show c.3235-3722_3235-3702delAGGAAGGAAGGAAGGAAGGAA		HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	17/29					INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW1_chr7_43107647_43571001	43566615	TTTATTAT others(14): Show TTTATTATTATTATTATTATTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02280.hp1 HG02630.hp1 others(1): Show HG02109.hp1 HG02280.hp1 HG02630.hp1 HG02809.hp1	a0003 a0003	a0003c0008 a0003c0028 a0003c0008 a0003c0028	a0003c0008t0010 a0003c0008t0037 a0003c0028t0010 a0003c0008t0010 a0003c0008t0037 a0003c0028t0010	a0003c0008t0010g0003 a0003c0008t0010g0081 a0003c0008t0037g0016 others(1): Show a0003c0008t0010g0003 a0003c0008t0010g0081 a0003c0008t0037g0016 a0003c0028t0010g0169	4	182	0.0220	-21	c.46 others(32): Show c.4690_*4710delTTATTATTATTATTATTATTA		HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding					615		chr7	TogoVar
HECW2_chr2_196189072_196598554	196273049	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02109.hp1 others(19): Show HG01884.hp2 HG01891.hp2 HG02109.hp1 HG02717.hp2 HG02723.hp2 HG02897.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG06807.hp1 NA18906.hp2 NA19240.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0010 a0001c0011 a0001c0016 a0001c0021 a0001c0026 a0002c0012	a0001c0001t0005 a0001c0001t0009 a0001c0001t0017 others(17): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0017 a0001c0001t0018 a0001c0001t0023 a0001c0001t0027 a0001c0001t0028 a0001c0002t0003 a0001c0002t0011 a0001c0002t0032 a0001c0003t0004 a0001c0004t0007 a0001c0008t0010 a0001c0010t0018 a0001c0011t0003 a0001c0016t0029 a0001c0021t0030 a0001c0026t0021 a0002c0012t0002 a0002c0012t0004	a0001c0001t0005g0079 a0001c0001t0009g0015 a0001c0001t0017g0111 others(19): Show a0001c0001t0005g0079 a0001c0001t0009g0015 a0001c0001t0017g0111 a0001c0001t0018g0033 a0001c0001t0023g0109 a0001c0001t0027g0032 a0001c0001t0028g0112 a0001c0002t0003g0106 a0001c0002t0011g0068 a0001c0002t0032g0090 a0001c0003t0004g0074 a0001c0004t0007g0057 a0001c0004t0007g0058 a0001c0004t0007g0059 a0001c0008t0010g0081 a0001c0010t0018g0043 a0001c0011t0003g0001 a0001c0016t0029g0099 a0001c0021t0030g0002 a0001c0026t0021g0038 a0002c0012t0002g0064 a0002c0012t0004g0095	22	112	0.1964	-21	c.323 others(38): Show c.3238+951_3238+971delAAAAAAAAAAAAAAAAAAAAA		HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	16/28						chr2	TogoVar
HECW2_chr2_196189072_196598554	196589073	CCTGTAAT others(14): Show CCTGTAATCCCAGCTACTTGGG	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0003 a0001c0011t0003	a0001c0011t0003g0001 a0001c0011t0003g0001	1	112	0.0089	-21	c.-36 others(38): Show c.-36+4414_-36+4434delCCCAAGTAGCTGGGATTACAG		HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	1/28						chr2	TogoVar
HELB_chr12_66297493_66343199	66314213	GTTAGTTG others(14): Show GTTAGTTGGTTGTTTACACCAT	G G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01358.hp1 HG01361.hp2 others(29): Show HG01255.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp2 HG01934.hp1 HG01952.hp2 HG01993.hp2 HG02071.hp1 HG02273.hp1 HG03688.hp2 HG03704.hp2 NA18942.hp1 NA18950.hp1 NA18950.hp2 NA18953.hp2 NA18955.hp1 NA18963.hp2 NA18968.hp2 NA18971.hp1 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA19004.hp1 NA19054.hp1 NA19057.hp1 NA19058.hp2 NA19074.hp2 NA19075.hp1 NA19077.hp2 NA19082.hp1 NA19084.hp1 NA20300.hp2	a0002 a0004 a0021 others(2): Show a0002 a0004 a0021 a0022 a0026	a0002c0001 a0004c0004 a0021c0040 others(2): Show a0002c0001 a0004c0004 a0021c0040 a0022c0041 a0026c0042	a0002c0001t0002 a0004c0004t0001 a0021c0040t0002 others(2): Show a0002c0001t0002 a0004c0004t0001 a0021c0040t0002 a0022c0041t0002 a0026c0042t0002	a0002c0001t0002g0037 a0002c0001t0002g0038 a0002c0001t0002g0039 others(26): Show a0002c0001t0002g0037 a0002c0001t0002g0038 a0002c0001t0002g0039 a0002c0001t0002g0184 a0002c0001t0002g0185 a0002c0001t0002g0186 a0002c0001t0002g0191 a0002c0001t0002g0192 a0002c0001t0002g0194 a0002c0001t0002g0196 a0002c0001t0002g0197 a0002c0001t0002g0198 a0002c0001t0002g0199 a0002c0001t0002g0200 a0002c0001t0002g0201 a0002c0001t0002g0202 a0002c0001t0002g0204 a0002c0001t0002g0205 a0002c0001t0002g0206 a0002c0001t0002g0207 a0002c0001t0002g0208 a0002c0001t0002g0209 a0002c0001t0002g0210 a0002c0001t0002g0211 a0004c0004t0001g0190 a0004c0004t0001g0203 a0021c0040t0002g0193 a0022c0041t0002g0188 a0026c0042t0002g0195	32	390	0.0821	-21	c.185 others(36): Show c.1858+71_1858+91delTTTAGTTGGTTGTTTACACCA		HELB	ENSG00000127311.10	transcript	ENST00000247815.9	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr12	TogoVar
HELT_chr4_185013490_185025953	185023058	TCTCTCTC others(14): Show TCTCTCTCTCTCTCTCTCTCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG02809.hp1 HG00733.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	454	0.0044	-21	c.22 others(32): Show c.2287_*2307delCTCTCTCTCTCTCTCTCTCTC		HELT	ENSG00000187821.9	transcript	ENST00000515777.6	protein_coding					2106		chr4	TogoVar
HELZ2_chr20_63553086_63579239	63559698	GAGTCAGG others(14): Show GAGTCAGGGTCAGGTGGGAGTC	G G	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01361.hp1 NA18952.hp2 others(1): Show HG01346.hp1 HG01361.hp1 NA18952.hp2 NA19079.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0004c0129 a0001c0001 a0004c0004 a0004c0129	a0001c0001t0019 a0004c0004t0015 a0004c0129t0044 a0001c0001t0019 a0004c0004t0015 a0004c0129t0044	a0001c0001t0019g0020 a0004c0004t0015g0098 a0004c0129t0044g0090 a0001c0001t0019g0020 a0004c0004t0015g0098 a0004c0129t0044g0090	4	390	0.0103	-21	c.782 others(38): Show c.7825+209_7825+229delGACTCCCACCTGACCCTGACT		HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	19/19						chr20	TogoVar
HEPHL1_chr11_94016354_94119208	94023968	GAAGATGC others(14): Show GAAGATGCTGTGACTGGGACAT	G G	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0256 a0001c0001t0003g0256	1	368	0.0027	-21	c.170 others(38): Show c.170+2434_170+2454delATGCTGTGACTGGGACATAAG		HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr11	TogoVar

Search by Variant

Search

Search Results (Total: 6287 hits)