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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ABI2_chr2_203323394_203437169	203338920	GTGTGTGT others(17): Show GTGTGTGTGTATATGTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02976.hp2 HG02155.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0005 a0001c0001t0005 a0001c0002t0005	a0001c0001t0005g0112 a0001c0002t0005g0116 a0001c0001t0005g0112 a0001c0002t0005g0116	2	320	0.0063	-24	c.117 others(43): Show c.117+10291_117+10314delGTGTGTGTATATGTATATATATAT	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABI2_chr2_203323394_203437169	203338926	GTGTATAT others(17): Show GTGTATATGTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0199 a0001c0001t0003g0199	1	320	0.0031	-24	c.117 others(43): Show c.117+10297_117+10320delGTATATGTATATATATATATATAT	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABI2_chr2_203323394_203437169	203338959	TATAAATA others(17): Show TATAAATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03540.hp2 HG02572.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0149 a0001c0001t0006g0162 a0001c0001t0006g0149 a0001c0001t0006g0162	2	320	0.0063	-24	c.117 others(43): Show c.117+10332_117+10355delAATATATATATATATATATAAATA	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABI2_chr2_203323394_203437169	203344918	CGCTCTGT others(17): Show CGCTCTGTAAAATGGACCAACCAGT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0320 a0001c0001t0037g0320	1	320	0.0031	-24	c.117 others(43): Show c.117+16331_117+16354delCCAGTGCTCTGTAAAATGGACCAA	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABI3BP_chr3_100744156_100998421	100830102	CATACATA others(17): Show CATACATACATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02630.hp2 HG03516.hp1 HG02109.hp2 HG02630.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0010 a0001c0001t0024 a0001c0004t0010 a0001c0001t0010 a0001c0001t0024 a0001c0004t0010	a0001c0001t0010g0002 a0001c0001t0024g0160 a0001c0004t0010g0012 a0001c0001t0010g0002 a0001c0001t0024g0160 a0001c0004t0010g0012	3	238	0.0126	-24	c.245 others(41): Show c.2458+452_2459-439delATATATATATATATATGTATGTAT	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	32/67			chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100830110	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02027.hp2 HG01167.hp1 HG02027.hp2	a0002 a0002	a0002c0002 a0002c0019 a0002c0002 a0002c0019	a0002c0002t0014 a0002c0019t0005 a0002c0002t0014 a0002c0019t0005	a0002c0002t0014g0178 a0002c0019t0005g0129 a0002c0002t0014g0178 a0002c0019t0005g0129	2	238	0.0084	-24	c.245 others(41): Show c.2458+444_2459-447delATATATATATATATATATATATAT	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	32/67			chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100993496	TGTGCCGT others(17): Show TGTGCCGTGGGCTTACTCACAGGGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0033 a0001c0017t0033	a0001c0017t0033g0091 a0001c0017t0033g0091	1	238	0.0042	-24	c.-13 others(33): Show c.-136_-113delCCCCTGTGAGTAAGCCCACGGCAC	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding		76		chr3	TogoVar
ABLIM1_chr10_114426112_114663275	114434280	AACACACA others(17): Show AACACACACACACACACACACACAC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0118 a0001c0001t0089g0118	1	256	0.0039	-24	c.19 others(35): Show c.1956_*1979delGTGTGTGTGTGTGTGTGTGTGTGT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	23/23	1956		chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114512831	GGAAGGAA others(17): Show GGAAGGAAGGAAGGAAGGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA19240.hp1 HG02280.hp2 NA19240.hp1	a0004 a0007 a0004 a0007	a0004c0008 a0007c0018 a0004c0008 a0007c0018	a0004c0008t0012 a0007c0018t0021 a0004c0008t0012 a0007c0018t0021	a0004c0008t0012g0139 a0007c0018t0021g0020 a0004c0008t0012g0139 a0007c0018t0021g0020	2	256	0.0078	-24	c.895 others(43): Show c.895-20977_895-20954delTTTCCTTCCTTCCTTCCTTCCTTC	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	6/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114583404	AACACACA others(17): Show AACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0099 a0001c0002t0099	a0001c0002t0099g0155 a0001c0002t0099g0155	1	256	0.0039	-24	c.380 others(41): Show c.380-7829_380-7806delGTGTGTGTGTGTGTGTGTGTGTGT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114583456	CACACACA others(17): Show CACACACACACACATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 NA19030.hp1 HG02896.hp2 HG02897.hp2 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0033 a0001c0004t0011 a0001c0002t0033 a0001c0004t0011	a0001c0002t0033g0005 a0001c0004t0011g0003 a0001c0004t0011g0007 a0001c0002t0033g0005 a0001c0004t0011g0003 a0001c0004t0011g0007	3	256	0.0117	-24	c.380 others(41): Show c.380-7881_380-7858delATATATATATATGTGTGTGTGTGT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114583462	CACACACA others(17): Show CACACACATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0093 a0001c0001t0093	a0001c0001t0093g0146 a0001c0001t0093g0146	1	256	0.0039	-24	c.380 others(41): Show c.380-7887_380-7864delATATATATATATATATATGTGTGT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114583466	CACATATA others(17): Show CACATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0238 a0001c0002t0002g0238	1	256	0.0039	-24	c.380 others(41): Show c.380-7891_380-7868delATATATATATATATATATATATGT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114601049	TACACACA others(17): Show TACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0114 a0006c0013t0114	a0006c0013t0114g0002 a0006c0013t0114g0002	1	256	0.0039	-24	c.379 others(39): Show c.379+754_379+777delGTGTGTGTGTGTGTGTGTGTGTGT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar
ABLIM2_chr4_7960327_8163813	8066360	GGGAAGGA others(17): Show GGGAAGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00408.hp1 others(55): Show HG00099.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00642.hp1 HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01256.hp1 HG01261.hp1 HG01496.hp2 HG01928.hp1 HG01952.hp2 HG01978.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02055.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02486.hp1 HG02698.hp1 HG02970.hp1 HG03486.hp1 HG03491.hp2 HG03704.hp1 HG03942.hp2 HG04184.hp1 NA18942.hp1 NA18947.hp2 NA18948.hp2 NA18955.hp2 NA18973.hp1 NA18986.hp1 NA18994.hp1 NA18995.hp2 NA19000.hp2 NA19005.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19056.hp1 NA19056.hp2 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19088.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0025 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0003t0001 a0001c0003t0007	a0001c0001t0001g0037 a0001c0001t0001g0052 a0001c0001t0001g0056 others(55): Show a0001c0001t0001g0037 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0095 a0001c0001t0001g0109 a0001c0001t0001g0117 a0001c0001t0001g0144 a0001c0001t0001g0151 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0184 a0001c0001t0001g0219 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0274 a0001c0001t0001g0295 a0001c0001t0001g0304 a0001c0001t0001g0318 a0001c0001t0002g0071 a0001c0001t0002g0110 a0001c0001t0002g0130 a0001c0001t0002g0246 a0001c0001t0002g0248 a0001c0001t0002g0310 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0054 a0001c0001t0003g0058 a0001c0001t0003g0122 a0001c0001t0003g0201 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0264 a0001c0001t0004g0163 a0001c0001t0004g0175 a0001c0001t0004g0208 a0001c0001t0025g0198 a0001c0002t0001g0182 a0001c0002t0002g0079 a0001c0002t0002g0115 a0001c0002t0003g0026 a0001c0002t0003g0045 a0001c0002t0003g0051 a0001c0002t0004g0044 a0001c0002t0005g0082 a0001c0002t0005g0107 a0001c0002t0005g0316 a0001c0003t0001g0214 a0001c0003t0007g0218	58	322	0.1801	-24	c.676 others(41): Show c.676-5330_676-5307delTTCCTTCCTTCCTTCCTTCCTTCC	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	6/20			chr4	TogoVar
ABLIM2_chr4_7960327_8163813	8145745	TACACACA others(17): Show TACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0308 a0001c0001t0007g0308	1	322	0.0031	-24	c.10+ others(41): Show c.10+12911_10+12934delGTGTGTGTGTGTGTGTGTGTGTGT	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	1/20			chr4	TogoVar
ABLIM3_chr5_149136493_149265542	149208372	CTCTCTCT others(17): Show CTCTCTCTCTCTCTCAATTTCTCTT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02896.hp1 HG03453.hp1 others(3): Show HG00738.hp2 HG02896.hp1 HG03453.hp1 NA18945.hp1 NA18955.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0140 others(3): Show a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0140 a0001c0001t0003g0121 a0001c0001t0003g0251 a0001c0001t0004g0119	6	258	0.0233	-24	c.575 others(41): Show c.575+1250_575+1273delCTCAATTTCTCTTTCTCTCTCTCT	ABLIM3	ENSG00000173210.21	transcript	ENST00000309868.12	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
ABLIM3_chr5_149136493_149265542	149225974	GTGTGTGT others(17): Show GTGTGTGTGTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00597.hp2 others(51): Show HG00438.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG01123.hp1 HG01175.hp1 HG01346.hp1 HG01516.hp1 HG01952.hp1 HG01975.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02559.hp2 HG03017.hp1 HG03491.hp1 HG03491.hp2 HG03834.hp2 HG04204.hp1 NA18942.hp1 NA18942.hp2 NA18949.hp1 NA18952.hp1 NA18960.hp1 NA18967.hp1 NA18975.hp2 NA18977.hp1 NA18984.hp1 NA18984.hp2 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18995.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19011.hp2 NA19043.hp2 NA19054.hp2 NA19060.hp1 NA19080.hp1 NA19082.hp2 NA19083.hp2 NA19085.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0001t0001 a0001c0001t0002 a0001c0001t0016	a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0001g0054 others(51): Show a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0001g0054 a0001c0001t0001g0130 a0001c0001t0001g0141 a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0002g0016 a0001c0001t0002g0026 a0001c0001t0002g0047 a0001c0001t0002g0052 a0001c0001t0002g0055 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0132 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0145 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0170 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0192 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0203 a0001c0001t0002g0207 a0001c0001t0002g0220 a0001c0001t0002g0230 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0016g0015	54	258	0.2093	-24	c.758 others(41): Show c.758-4673_758-4650delGTGTGTGTATATATATATATATAT	ABLIM3	ENSG00000173210.21	transcript	ENST00000309868.12	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
ABLIM3_chr5_149136493_149265542	149225976	GTGTGTGT others(17): Show GTGTGTGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	258	0.0039	-24	c.758 others(41): Show c.758-4671_758-4648delGTGTGTATATATATATATATATAT	ABLIM3	ENSG00000173210.21	transcript	ENST00000309868.12	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
ABLIM3_chr5_149136493_149265542	149225982	GTATATAT others(17): Show GTATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	258	0.0039	-24	c.758 others(41): Show c.758-4645_758-4622delATATATATATATATATATATATAT	ABLIM3	ENSG00000173210.21	transcript	ENST00000309868.12	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
ABR_chr17_998519_1184981	1019470	TCTGCTGC others(17): Show TCTGCTGCAGGTGTGGCCCTGGTGC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(226): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG01070.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18962.hp2 NA18967.hp2 NA18970.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19056.hp1 NA19060.hp2 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19080.hp2 NA19081.hp1 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0010 a0001c0012 a0001c0014 a0002c0005 a0003c0015 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(79): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0001t0039 a0001c0001t0043 a0001c0001t0044 a0001c0001t0046 a0001c0001t0049 a0001c0001t0057 a0001c0001t0059 a0001c0001t0061 a0001c0001t0063 a0001c0001t0064 a0001c0001t0067 a0001c0001t0069 a0001c0001t0071 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0078 a0001c0001t0079 a0001c0001t0081 a0001c0001t0084 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0008 a0001c0002t0011 a0001c0002t0042 a0001c0002t0053 a0001c0002t0056 a0001c0002t0060 a0001c0002t0085 a0001c0003t0012 a0001c0003t0016 a0001c0003t0023 a0001c0003t0024 a0001c0003t0025 a0001c0003t0051 a0001c0003t0052 a0001c0003t0054 a0001c0003t0080 a0001c0003t0083 a0001c0004t0024 a0001c0004t0037 a0001c0006t0047 a0001c0007t0003 a0001c0010t0001 a0001c0012t0055 a0001c0014t0010 a0002c0005t0001 a0003c0015t0062 a0005c0008t0020	a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0063 others(226): Show a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0083 a0001c0001t0001g0089 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0124 a0001c0001t0001g0135 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0181 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0230 a0001c0001t0002g0081 a0001c0001t0002g0085 a0001c0001t0002g0088 a0001c0001t0002g0095 a0001c0001t0002g0099 a0001c0001t0002g0104 a0001c0001t0002g0114 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0131 a0001c0001t0002g0144 a0001c0001t0002g0151 a0001c0001t0002g0170 a0001c0001t0002g0180 a0001c0001t0002g0182 a0001c0001t0002g0190 a0001c0001t0002g0209 a0001c0001t0002g0223 a0001c0001t0003g0059 a0001c0001t0003g0062 a0001c0001t0003g0068 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0143 a0001c0001t0003g0150 a0001c0001t0003g0168 a0001c0001t0003g0192 a0001c0001t0003g0200 a0001c0001t0003g0207 a0001c0001t0003g0222 a0001c0001t0003g0237 a0001c0001t0004g0250 a0001c0001t0004g0252 a0001c0001t0004g0255 a0001c0001t0004g0256 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0004g0263 a0001c0001t0004g0290 a0001c0001t0004g0293 a0001c0001t0004g0297 a0001c0001t0004g0308 a0001c0001t0004g0312 a0001c0001t0004g0313 a0001c0001t0004g0316 a0001c0001t0004g0319 a0001c0001t0004g0329 a0001c0001t0004g0334 a0001c0001t0004g0335 a0001c0001t0005g0254 a0001c0001t0005g0266 a0001c0001t0005g0273 a0001c0001t0005g0277 a0001c0001t0005g0278 a0001c0001t0005g0282 a0001c0001t0005g0283 a0001c0001t0005g0309 a0001c0001t0005g0318 a0001c0001t0005g0320 a0001c0001t0006g0055 a0001c0001t0006g0075 a0001c0001t0006g0077 a0001c0001t0006g0086 a0001c0001t0006g0094 a0001c0001t0006g0096 a0001c0001t0006g0118 a0001c0001t0006g0142 a0001c0001t0006g0162 a0001c0001t0006g0206 a0001c0001t0006g0208 a0001c0001t0006g0215 a0001c0001t0006g0216 a0001c0001t0007g0249 a0001c0001t0007g0251 a0001c0001t0007g0280 a0001c0001t0007g0288 a0001c0001t0007g0317 a0001c0001t0007g0323 a0001c0001t0007g0324 a0001c0001t0007g0325 a0001c0001t0007g0326 a0001c0001t0007g0333 a0001c0001t0008g0012 a0001c0001t0008g0019 a0001c0001t0008g0024 a0001c0001t0008g0025 a0001c0001t0008g0026 a0001c0001t0008g0033 a0001c0001t0008g0042 a0001c0001t0009g0004 a0001c0001t0009g0018 a0001c0001t0009g0022 a0001c0001t0009g0023 a0001c0001t0009g0034 a0001c0001t0009g0046 a0001c0001t0009g0050 a0001c0001t0010g0260 a0001c0001t0010g0274 a0001c0001t0010g0298 a0001c0001t0010g0300 a0001c0001t0010g0310 a0001c0001t0010g0321 a0001c0001t0011g0125 a0001c0001t0011g0167 a0001c0001t0011g0238 a0001c0001t0011g0246 a0001c0001t0012g0093 a0001c0001t0012g0183 a0001c0001t0013g0028 a0001c0001t0013g0043 a0001c0001t0013g0048 a0001c0001t0013g0049 a0001c0001t0015g0262 a0001c0001t0015g0265 a0001c0001t0015g0275 a0001c0001t0017g0113 a0001c0001t0017g0225 a0001c0001t0019g0057 a0001c0001t0019g0221 a0001c0001t0020g0136 a0001c0001t0021g0272 a0001c0001t0023g0035 a0001c0001t0026g0027 a0001c0001t0026g0030 a0001c0001t0028g0122 a0001c0001t0028g0123 a0001c0001t0029g0116 a0001c0001t0029g0177 a0001c0001t0030g0107 a0001c0001t0030g0210 a0001c0001t0031g0240 a0001c0001t0031g0241 a0001c0001t0032g0259 a0001c0001t0033g0264 a0001c0001t0033g0327 a0001c0001t0035g0014 a0001c0001t0039g0010 a0001c0001t0043g0008 a0001c0001t0044g0021 a0001c0001t0046g0154 a0001c0001t0049g0193 a0001c0001t0057g0174 a0001c0001t0059g0166 a0001c0001t0061g0149 a0001c0001t0063g0189 a0001c0001t0064g0239 a0001c0001t0067g0091 a0001c0001t0069g0153 a0001c0001t0071g0185 a0001c0001t0074g0115 a0001c0001t0075g0156 a0001c0001t0076g0171 a0001c0001t0078g0289 a0001c0001t0079g0267 a0001c0001t0081g0253 a0001c0001t0084g0330 a0001c0001t0086g0294 a0001c0001t0087g0311 a0001c0001t0088g0299 a0001c0001t0089g0331 a0001c0001t0090g0301 a0001c0002t0001g0164 a0001c0002t0001g0205 a0001c0002t0002g0066 a0001c0002t0002g0100 a0001c0002t0002g0172 a0001c0002t0005g0305 a0001c0002t0008g0037 a0001c0002t0011g0228 a0001c0002t0042g0016 a0001c0002t0053g0070 a0001c0002t0056g0155 a0001c0002t0060g0234 a0001c0002t0085g0328 a0001c0003t0012g0105 a0001c0003t0012g0119 a0001c0003t0016g0163 a0001c0003t0016g0218 a0001c0003t0016g0229 a0001c0003t0023g0005 a0001c0003t0024g0040 a0001c0003t0025g0006 a0001c0003t0025g0009 a0001c0003t0051g0106 a0001c0003t0052g0220 a0001c0003t0054g0231 a0001c0003t0080g0287 a0001c0003t0083g0285 a0001c0004t0024g0041 a0001c0004t0037g0017 a0001c0006t0047g0227 a0001c0007t0003g0140 a0001c0010t0001g0139 a0001c0012t0055g0235 a0001c0014t0010g0307 a0002c0005t0001g0186 a0003c0015t0062g0212 a0005c0008t0020g0132	229	337	0.6795	-24	c.179 others(43): Show c.1792-6330_1792-6307delGCACCAGGGCCACACCTGCAGCAG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22			chr17	TogoVar
ABR_chr17_998519_1184981	1057305	GGTTTGTG others(17): Show GGTTTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02109.hp2 HG02486.hp1 HG01952.hp1 HG02109.hp2 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0014 a0001c0001t0068 a0001c0001t0008 a0001c0001t0014 a0001c0001t0068	a0001c0001t0008g0011 a0001c0001t0014g0097 a0001c0001t0068g0160 a0001c0001t0008g0011 a0001c0001t0014g0097 a0001c0001t0068g0160	3	337	0.0089	-24	c.138 others(41): Show c.1382-227_1382-204delACACACACACACACACACACAAAC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	12/22			chr17	TogoVar
ABR_chr17_998519_1184981	1099445	TCTCAGGG others(17): Show TCTCAGGGTTGACGTGTGACAACAC	T T	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA19056.hp1 NA18944.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0010 a0001c0001t0005 a0001c0001t0010	a0001c0001t0005g0273 a0001c0001t0010g0274 a0001c0001t0005g0273 a0001c0001t0010g0274	2	337	0.0059	-24	c.345 others(41): Show c.345+1168_345+1191delGTGTTGTCACACGTCAACCCTGAG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	3/22			chr17	TogoVar
ABTB2_chr11_34145987_34363010	34149161	CACGGGGA others(17): Show CACGGGGACTAATGTGGAAAAGGAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0039 a0001c0001t0007g0039	1	246	0.0041	-24	c.32 others(35): Show c.3202_*3225delATCCTTTTCCACATTAGTCCCCGT	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding		1825		chr11	TogoVar
ABTB2_chr11_34145987_34363010	34360525	AATATATA others(17): Show AATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0039 a0001c0001t0007g0039	1	246	0.0041	-24	c.-29 others(35): Show c.-2966_-2943delATATATATATATATATATATATAT	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding		2516		chr11	TogoVar
ABTB3_chr12_107313434_107664642	107482965	TTTCTTTC others(17): Show TTTCTTTCTTTCTTTCTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02015.hp1 HG02698.hp2 others(3): Show HG00280.hp2 HG02015.hp1 HG02698.hp2 HG02735.hp1 HG02976.hp1 HG04204.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0008	a0001c0001 a0002c0002 a0005c0007 others(1): Show a0001c0001 a0002c0002 a0005c0007 a0008c0013	a0001c0001t0001 a0002c0002t0001 a0002c0002t0010 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0010 a0005c0007t0003 a0008c0013t0019	a0001c0001t0001g0001 a0001c0001t0001g0050 a0002c0002t0001g0125 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0050 a0002c0002t0001g0125 a0002c0002t0010g0182 a0005c0007t0003g0119 a0008c0013t0019g0185	6	186	0.0323	-24	c.113 others(45): Show c.1136-37518_1136-37495delTTTCTTTCTTTCTTTCTTTCCTTC	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107482969	TTTCTTTC others(17): Show TTTCTTTCTTTCTTTCTTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02622.hp2 HG03041.hp1 others(2): Show HG01243.hp1 HG02622.hp2 HG03041.hp1 HG03486.hp1 HG03834.hp2	a0002 a0006 a0007 others(1): Show a0002 a0006 a0007 a0009	a0002c0002 a0002c0009 a0006c0014 others(2): Show a0002c0002 a0002c0009 a0006c0014 a0007c0010 a0009c0034	a0002c0002t0038 a0002c0009t0029 a0006c0014t0037 others(2): Show a0002c0002t0038 a0002c0009t0029 a0006c0014t0037 a0007c0010t0005 a0009c0034t0003	a0002c0002t0038g0184 a0002c0009t0029g0069 a0006c0014t0037g0171 others(2): Show a0002c0002t0038g0184 a0002c0009t0029g0069 a0006c0014t0037g0171 a0007c0010t0005g0090 a0009c0034t0003g0070	5	186	0.0269	-24	c.113 others(45): Show c.1136-37514_1136-37491delTTTCTTTCTTTCTTTCCTTCCTTC	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107482977	TTTCTTTC others(17): Show TTTCTTTCTTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03579.hp2 HG02109.hp2 HG03579.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0012c0025 a0001c0001 a0012c0025	a0001c0001t0002 a0012c0025t0002 a0001c0001t0002 a0012c0025t0002	a0001c0001t0002g0083 a0012c0025t0002g0079 a0001c0001t0002g0083 a0012c0025t0002g0079	2	186	0.0108	-24	c.113 others(45): Show c.1136-37506_1136-37483delTTTCTTTCCTTCCTTCCTTCCTTC	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107542754	ATGATATT others(17): Show ATGATATTCTTACCATAAGTAAGCT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0175 a0002c0002t0007g0175	1	186	0.0054	-24	c.128 others(43): Show c.1286-1177_1286-1154delTATTCTTACCATAAGTAAGCTTGA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107637786	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0116 a0002c0002t0004g0116	1	186	0.0054	-24	c.273 others(43): Show c.2737+2421_2737+2444delTGTGTGTGTGTGTGTGTGTGTGTG	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACA_chr17_37079992_37411836	37119589	AACACACA others(17): Show AACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02970.hp2 NA19030.hp1 HG02886.hp1 HG02970.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0002g0025 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0002g0025	3	299	0.0100	-24	c.627 others(43): Show c.6274+1742_6274+1765delGTGTGTGTGTGTGTGTGTGTGTGT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	50/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390140	GTATATAT others(17): Show GTATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	299	0.0033	-24	c.38+ others(41): Show c.38+16098_38+16121delTATATATATATATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390247	TATATATT others(17): Show TATATATTATATATAATTATATATA	T T	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0021 a0001c0002t0002g0021	1	299	0.0033	-24	c.38+ others(41): Show c.38+15991_38+16014delTATATATAATTATATATAATATAT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACB_chr12_109111587_109273226	109140247	CTTCCTTC others(17): Show CTTCCTTCCATCCTTCCTTCCTTCT	C C	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0049 a0001c0049	a0001c0049t0004 a0001c0049t0004	a0001c0049t0004g0088 a0001c0049t0004g0088	1	308	0.0033	-24	c.653 others(39): Show c.653+198_653+221delATCCTTCCTTCCTTCTTTCCTTCC	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	2/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109140256	ATCCTTCC others(17): Show ATCCTTCCTTCCTTCTTTCCTTCCT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01074.hp1 HG01074.hp2 others(22): Show HG00673.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01261.hp1 HG01943.hp1 HG02027.hp2 HG02145.hp1 HG02723.hp1 HG03486.hp2 HG03669.hp2 HG03710.hp1 HG04204.hp2 NA18951.hp1 NA18955.hp2 NA18987.hp1 NA19030.hp2 NA19063.hp1 NA19080.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0007 a0009 a0027	a0001c0002 a0001c0003 a0001c0029 others(12): Show a0001c0002 a0001c0003 a0001c0029 a0001c0048 a0001c0050 a0001c0095 a0001c0111 a0002c0014 a0002c0110 a0006c0113 a0007c0030 a0007c0101 a0007c0104 a0009c0025 a0027c0065	a0001c0002t0001 a0001c0003t0002 a0001c0029t0002 others(12): Show a0001c0002t0001 a0001c0003t0002 a0001c0029t0002 a0001c0048t0002 a0001c0050t0001 a0001c0095t0001 a0001c0111t0001 a0002c0014t0003 a0002c0110t0003 a0006c0113t0004 a0007c0030t0002 a0007c0101t0002 a0007c0104t0004 a0009c0025t0001 a0027c0065t0005	a0001c0002t0001g0081 a0001c0002t0001g0098 a0001c0002t0001g0109 others(22): Show a0001c0002t0001g0081 a0001c0002t0001g0098 a0001c0002t0001g0109 a0001c0002t0001g0235 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0003t0002g0077 a0001c0003t0002g0078 a0001c0003t0002g0102 a0001c0003t0002g0104 a0001c0003t0002g0193 a0001c0029t0002g0096 a0001c0048t0002g0281 a0001c0050t0001g0277 a0001c0050t0001g0278 a0001c0095t0001g0133 a0001c0111t0001g0275 a0002c0014t0003g0015 a0002c0110t0003g0268 a0006c0113t0004g0031 a0007c0030t0002g0110 a0007c0101t0002g0086 a0007c0104t0004g0183 a0009c0025t0001g0105 a0027c0065t0005g0225	25	308	0.0812	-24	c.653 others(39): Show c.653+213_653+236delTTTCCTTCCTTCCTTCCTTCCTTC	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	2/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109140271	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA18747.hp1 NA18960.hp1 HG03017.hp2 NA18747.hp1 NA18960.hp1	a0003 a0005 a0012 a0003 a0005 a0012	a0003c0005 a0005c0009 a0012c0035 a0003c0005 a0005c0009 a0012c0035	a0003c0005t0002 a0005c0009t0003 a0012c0035t0004 a0003c0005t0002 a0005c0009t0003 a0012c0035t0004	a0003c0005t0002g0134 a0005c0009t0003g0164 a0012c0035t0004g0063 a0003c0005t0002g0134 a0005c0009t0003g0164 a0012c0035t0004g0063	3	308	0.0097	-24	c.653 others(39): Show c.653+270_653+293delTTCCTTCCTTCCTTCCTTCCTTCC	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	2/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109188171	CTCCTTCC others(17): Show CTCCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0052 a0001c0004t0002g0052	1	308	0.0033	-24	c.214 others(39): Show c.2144+49_2144+72delTTCCTTCCTTCCTTCCTTCCTTCC	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	13/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109267952	AGACAAAA others(17): Show AGACAAAATCTGACCATCAGCCAGT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02083.hp1 NA18612.hp2 NA18942.hp2 others(5): Show HG02083.hp1 NA18612.hp2 NA18942.hp2 NA18952.hp2 NA18963.hp2 NA18980.hp2 NA18995.hp2 NA19004.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0020 a0001c0004t0007 a0001c0004t0020	a0001c0004t0007g0001 a0001c0004t0007g0011 a0001c0004t0007g0019 others(4): Show a0001c0004t0007g0001 a0001c0004t0007g0011 a0001c0004t0007g0019 a0001c0004t0007g0020 a0001c0004t0007g0022 a0001c0004t0007g0028 a0001c0004t0020g0023	8	308	0.0260	-24	c.15 others(35): Show c.1595_*1618delAAATCTGACCATCAGCCAGTGACA	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	53/53	1595	INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAD11_chr3_132553141_132664809	132599616	AGAAGACA others(17): Show AGAAGACAGATTCAAGACCTACTTG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02896.hp2 HG02897.hp2 HG01891.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0022 a0001c0001t0001g0120 a0001c0001t0001g0123	3	316	0.0095	-24	c.162 others(43): Show c.1621+3589_1621+3612delCAAGTAGGTCTTGAATCTGTCTTC	ACAD11	ENSG00000240303.8	transcript	ENST00000264990.11	protein_coding	13/19			chr3	TogoVar
ACADM_chr1_75719709_75768679	75737279	AATATATA others(17): Show AATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0186	1	364	0.0028	-24	c.468 others(41): Show c.468+2433_468+2456delATATATATATATATATATATATAT	ACADM	ENSG00000117054.15	transcript	ENST00000370841.9	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACADM_chr1_75719709_75768679	75758789	TCAGCACT others(17): Show TCAGCACTCTGTAAAATGGACCAAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02257.hp2 others(10): Show HG01884.hp2 HG02055.hp1 HG02257.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02818.hp1 HG03098.hp1 HG03209.hp1 HG03209.hp2 HG03486.hp1 NA18906.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0008 a0001c0003t0001 a0001c0003t0008	a0001c0003t0001g0099 a0001c0003t0001g0100 a0001c0003t0001g0101 others(10): Show a0001c0003t0001g0099 a0001c0003t0001g0100 a0001c0003t0001g0101 a0001c0003t0001g0114 a0001c0003t0001g0115 a0001c0003t0001g0116 a0001c0003t0001g0117 a0001c0003t0001g0118 a0001c0003t0001g0119 a0001c0003t0001g0120 a0001c0003t0001g0121 a0001c0003t0001g0122 a0001c0003t0008g0290	13	364	0.0357	-24	c.946 others(41): Show c.946-2309_946-2286delCCAGCACTCTGTAAAATGGACCAA	ACADM	ENSG00000117054.15	transcript	ENST00000370841.9	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACAP2_chr3_195269745_195448020	195311656	TCTCCTGA others(17): Show TCTCCTGAGTAGCTGGGATTACAGG	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG00673.hp1 others(35): Show HG00438.hp2 HG00558.hp2 HG00673.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02074.hp2 HG02132.hp2 HG02165.hp2 HG02273.hp1 HG02523.hp2 HG02698.hp2 HG02735.hp2 HG03239.hp2 HG03490.hp1 HG03492.hp1 HG04184.hp1 NA18747.hp2 NA18942.hp2 NA18944.hp2 NA18948.hp1 NA18951.hp2 NA18974.hp2 NA18998.hp1 NA19000.hp2 NA19003.hp2 NA19006.hp1 NA19078.hp2 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0015 others(2): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0015 a0001c0002t0025 a0001c0002t0035	a0001c0002t0001g0043 a0001c0002t0004g0004 a0001c0002t0004g0024 others(35): Show a0001c0002t0001g0043 a0001c0002t0004g0004 a0001c0002t0004g0024 a0001c0002t0004g0025 a0001c0002t0004g0026 a0001c0002t0004g0027 a0001c0002t0004g0028 a0001c0002t0004g0030 a0001c0002t0004g0031 a0001c0002t0004g0032 a0001c0002t0004g0033 a0001c0002t0004g0034 a0001c0002t0004g0035 a0001c0002t0004g0036 a0001c0002t0004g0040 a0001c0002t0004g0041 a0001c0002t0004g0042 a0001c0002t0004g0044 a0001c0002t0004g0045 a0001c0002t0004g0046 a0001c0002t0004g0047 a0001c0002t0004g0048 a0001c0002t0004g0049 a0001c0002t0004g0050 a0001c0002t0004g0051 a0001c0002t0004g0052 a0001c0002t0004g0053 a0001c0002t0004g0054 a0001c0002t0004g0055 a0001c0002t0004g0056 a0001c0002t0004g0057 a0001c0002t0004g0205 a0001c0002t0004g0319 a0001c0002t0015g0029 a0001c0002t0015g0038 a0001c0002t0015g0039 a0001c0002t0025g0037 a0001c0002t0035g0058	38	324	0.1173	-24	c.858 others(41): Show c.858-2843_858-2820delCCTGTAATCCCAGCTACTCAGGAG	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	10/22			chr3	TogoVar
ACAP2_chr3_195269745_195448020	195351441	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0315 a0001c0001t0007g0315	1	324	0.0031	-24	c.286 others(41): Show c.286-6148_286-6125delACACACACACACACACACACACAC	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	4/22			chr3	TogoVar
ACBD5_chr10_27190214_27245797	27243092	TCACACAC others(17): Show TCACACACACACACACACACACGCG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00642.hp2 HG01109.hp1 others(4): Show HG00140.hp2 HG00642.hp2 HG01109.hp1 HG01175.hp1 HG03209.hp1 NA20752.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0063 others(4): Show a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0063 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094	7	384	0.0182	-24	c.-24 others(35): Show c.-2428_-2405delCGCGTGTGTGTGTGTGTGTGTGTG	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding		2296		chr10	TogoVar
ACBD6_chr1_180283230_180507577	180307397	TAATGGGT others(17): Show TAATGGGTACAAAAAAATTGTTACA	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03516.hp2 HG03098.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0122 a0001c0001t0001g0123	2	334	0.0060	-24	c.694 others(41): Show c.694+7271_694+7294delTGTAACAATTTTTTTGTACCCATT	ACBD6	ENSG00000230124.8	transcript	ENST00000367595.4	protein_coding	7/7			chr1	TogoVar
ACER2_chr9_19404009_19457505	19427961	CTTCCTTT others(17): Show CTTCCTTTCCTTTCCTTTTTCCTTT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01891.hp1 HG02145.hp2 others(4): Show HG01192.hp1 HG01891.hp1 HG02145.hp2 HG02976.hp2 HG03209.hp1 HG03453.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0005 a0001c0001t0001 a0001c0001t0002 a0001c0003t0005	a0001c0001t0001g0096 a0001c0001t0001g0116 a0001c0001t0001g0118 others(4): Show a0001c0001t0001g0096 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0002g0127 a0001c0003t0005g0117 a0001c0003t0005g0128 a0001c0003t0005g0307	7	358	0.0196	-24	c.365 others(41): Show c.365+3162_365+3185delTTCCTTTTTCCTTTCCTTTCCTTT	ACER2	ENSG00000177076.6	transcript	ENST00000340967.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
ACER3_chr11_76855918_77031797	76868383	CTCTCTCT others(17): Show CTCTCTCTCTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0136 a0001c0001t0013g0136	1	346	0.0029	-24	c.103 others(41): Show c.103+7306_103+7329delCTCTCTCTGTGTGTGTGTGTGTGT	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACER3_chr11_76855918_77031797	76948211	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02886.hp2 HG01167.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0020 a0002c0004t0006 a0002c0002t0020 a0002c0004t0006	a0002c0002t0020g0214 a0002c0004t0006g0305 a0002c0002t0020g0214 a0002c0004t0006g0305	2	346	0.0058	-24	c.215 others(43): Show c.215-10738_215-10715delGTGTGTGTGTGTGTGTGTGTGTGT	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACER3_chr11_76855918_77031797	76950352	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02647.hp1 HG02818.hp2 others(2): Show HG02109.hp2 HG02647.hp1 HG02818.hp2 HG02895.hp2 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0025 a0002c0002t0098 a0002c0002t0120 a0002c0002t0025 a0002c0002t0098 a0002c0002t0120	a0002c0002t0025g0218 a0002c0002t0025g0222 a0002c0002t0025g0224 others(2): Show a0002c0002t0025g0218 a0002c0002t0025g0222 a0002c0002t0025g0224 a0002c0002t0098g0221 a0002c0002t0120g0225	5	346	0.0145	-24	c.215 others(41): Show c.215-8591_215-8568delTATATATATATATATATATATATA	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACKR4_chr3_132592270_132607644	132599616	AGAAGACA others(17): Show AGAAGACAGATTCAAGACCTACTTG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02896.hp1 HG01891.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	2	358	0.0056	-24	c.-9- others(37): Show c.-9-768_-9-745delACAGATTCAAGACCTACTTGGAAG	ACKR4	ENSG00000129048.7	transcript	ENST00000249887.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)