Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CHEK2_chr22_28682743_28746820	28698228	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	384	0.0026	13	c.100 others(32): Show c.1009-1254_1009-1242dupTTTTTTTTTTTTT		CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	9/14						chr22	TogoVar
CHEK2_chr22_28682743_28746820	28729540	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG04184.hp2 HG02257.hp1 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0344 a0001c0002t0001g0006 a0001c0002t0001g0344	2	384	0.0052	13	c.320 others(30): Show c.320-4186_320-4174dupTTTTTTTTTTTTT		CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	2/14						chr22	TogoVar
CHEK2_chr22_28682743_28746820	28730240	A A	AGAGGAGG others(6): Show AGAGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	384	0.0026	13	c.319 others(30): Show c.319+4162_319+4163insCCCTCCCCTCCTC		CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	2/14						chr22	TogoVar
CHGA_chr14_92918150_92940285	92920654	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp1 NA18977.hp1 NA18978.hp2 others(2): Show NA18943.hp1 NA18977.hp1 NA18978.hp2 NA18997.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	447	0.0112	13	c.-27 others(24): Show c.-2706_-2705insAAAAAAAAAAAAA		CHGA	ENSG00000100604.13	transcript	ENST00000216492.10	protein_coding					2495		chr14	TogoVar
CHGB_chr20_5906510_5930353	5918163	A A	AAACAAAA others(6): Show AAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0004 a0007c0007t0004	a0007c0007t0004g0146 a0007c0007t0004g0146	1	440	0.0023	13	c.190 others(30): Show c.190+1246_190+1247insCAAAACAAAACAA		CHGB	ENSG00000089199.10	transcript	ENST00000378961.9	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr20	TogoVar
CHI3L2_chr1_111222713_111248440	111229681	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG01081.hp1 others(30): Show HG00140.hp1 HG00280.hp1 HG01081.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG02004.hp2 HG02293.hp2 HG02300.hp1 HG03041.hp2 HG03540.hp2 NA18747.hp2 NA18944.hp1 NA18951.hp1 NA18960.hp1 NA18965.hp2 NA18968.hp1 NA18970.hp1 NA18984.hp2 NA18986.hp2 NA18987.hp2 NA18993.hp2 NA19004.hp2 NA19012.hp2 NA19059.hp2 NA19063.hp2 NA19064.hp1 NA19068.hp1 NA19076.hp2 NA19084.hp2 NA19086.hp2 NA20129.hp2	a0002 a0004 a0002 a0004	a0002c0003 a0002c0010 a0004c0006 a0002c0003 a0002c0010 a0004c0006	a0002c0003t0001 a0002c0010t0001 a0004c0006t0005 a0002c0003t0001 a0002c0010t0001 a0004c0006t0005	a0002c0003t0001g0004 a0002c0003t0001g0038 a0002c0003t0001g0039 others(8): Show a0002c0003t0001g0004 a0002c0003t0001g0038 a0002c0003t0001g0039 a0002c0003t0001g0041 a0002c0003t0001g0115 a0002c0003t0001g0117 a0002c0003t0001g0118 a0002c0003t0001g0119 a0002c0010t0001g0004 a0002c0010t0001g0116 a0004c0006t0005g0025	33	434	0.0760	13	c.41- others(26): Show c.41-159_41-147dupAAAAAAAAAAAAA		CHI3L2	ENSG00000064886.14	transcript	ENST00000369748.9	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
CHKA_chr11_68047859_68126388	68060032	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18951.hp1 NA18980.hp1 others(7): Show HG00597.hp2 NA18951.hp1 NA18980.hp1 NA18981.hp2 NA18987.hp1 NA18989.hp1 NA19067.hp2 NA19080.hp2 NA19090.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0002g0079 a0001c0001t0002g0082 a0001c0001t0003g0015 others(7): Show a0001c0001t0002g0079 a0001c0001t0002g0082 a0001c0001t0003g0015 a0001c0001t0003g0018 a0001c0001t0003g0022 a0001c0001t0003g0026 a0001c0001t0003g0035 a0001c0001t0003g0038 a0001c0001t0003g0041 a0001c0001t0005g0056	10	276	0.0362	13	c.131 others(32): Show c.1314+1920_1314+1921insAAAAAAAAAAAAA		CHKA	ENSG00000110721.12	transcript	ENST00000265689.9	protein_coding	11/11						chr11	TogoVar
CHL1_chr3_191763_414417	239595	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01516.hp2 HG00558.hp1 HG01516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0041 a0001c0001t0002 a0002c0002t0041	a0001c0001t0002g0054 a0002c0002t0041g0280 a0001c0001t0002g0054 a0002c0002t0041g0280	2	290	0.0069	13	c.-17 others(32): Show c.-174-5018_-174-5017insTATATATATATAT		CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	1/27						chr3	TogoVar
CHL1_chr3_191763_414417	314368	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0229 a0001c0001t0003g0229	1	290	0.0035	13	c.-94 others(30): Show c.-94-5313_-94-5312insATATATATATAAT		CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr3	TogoVar
CHL1_chr3_191763_414417	333124	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01981.hp1 HG02647.hp2 others(2): Show HG01255.hp1 HG01981.hp1 HG02647.hp2 HG02970.hp1 HG03491.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0016 a0003c0003t0004 a0001c0001t0001 a0001c0001t0016 a0003c0003t0004	a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0172 others(2): Show a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0172 a0001c0001t0016g0100 a0003c0003t0004g0009	5	290	0.0172	13	c.385 others(30): Show c.385+4778_385+4779insTTTTTTTTTTTTT		CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	5/27					INFO_REALIGN_3_PRIME	chr3	TogoVar
CHMP4A_chr14_24204615_24218488	24210370	A A	AGAAGGTA others(6): Show AGAAGGTACACTAG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19006.hp1 NA19006.hp1	a0007 a0007	a0007c0005 a0007c0005	a0007c0005t0001 a0007c0005t0001	a0007c0005t0001g0050 a0007c0005t0001g0050	1	418	0.0024	13	c.575 others(20): Show c.575_587dupCTAGTGTACCTTC	p.Thr others(5): Show p.Thr197fs	CHMP4A	ENSG00000254505.11	transcript	ENST00000347519.12	protein_coding	5/6	636/980	587/669	196/222			chr14	TogoVar
CHMP4B_chr20_33806348_33859366	33830933	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01243.hp2 HG01361.hp1 others(5): Show HG00323.hp2 HG01243.hp2 HG01361.hp1 HG01884.hp1 HG02895.hp1 HG02976.hp2 HG03579.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0150 others(5): Show a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0157 a0001c0001t0001g0182 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206	8	332	0.0241	13	c.191 others(32): Show c.191-17530_191-17518dupTTTTTTTTTTTTT		CHMP4B	ENSG00000101421.4	transcript	ENST00000217402.3	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr20	TogoVar
CHMP6_chr17_80986841_81005133	80988926	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	438	0.0023	13	c.-29 others(24): Show c.-2993_-2992insGTGTGTGTGTGTG		CHMP6	ENSG00000176108.9	transcript	ENST00000325167.9	protein_coding					2914		chr17	TogoVar
CHMP7_chr8_23238637_23266999	23241367	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG03831.hp2 others(16): Show HG00408.hp2 HG00544.hp1 HG03831.hp2 NA18940.hp1 NA18943.hp1 NA18960.hp2 NA18961.hp1 NA18968.hp2 NA18983.hp1 NA18987.hp2 NA18993.hp2 NA18999.hp1 NA18999.hp2 NA19062.hp1 NA19066.hp1 NA19070.hp2 NA19075.hp1 NA19081.hp1 NA19086.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 a0001c0001t0021 a0006c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0025 others(14): Show a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0066 a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0003g0085 a0001c0001t0003g0109 a0001c0001t0016g0082 a0001c0001t0021g0098 a0006c0006t0001g0068	19	438	0.0434	13	c.-29 others(24): Show c.-2918_-2917insTTTTTTTTTTTTT		CHMP7	ENSG00000147457.14	transcript	ENST00000397677.6	protein_coding					2269		chr8	TogoVar
CHMP7_chr8_23238637_23266999	23252195	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02074.hp1 HG02155.hp2 others(8): Show HG01943.hp2 HG02074.hp1 HG02155.hp2 HG02165.hp1 HG02735.hp2 NA18948.hp2 NA18969.hp2 NA18993.hp1 NA19072.hp2 NA19075.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0002 a0001c0001t0005 a0004c0007t0002 a0001c0001t0002 a0001c0001t0005 a0004c0007t0002	a0001c0001t0002g0241 a0001c0001t0002g0251 a0001c0001t0002g0252 others(8): Show a0001c0001t0002g0241 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0262 a0001c0001t0002g0301 a0001c0001t0005g0235 a0001c0001t0005g0236 a0001c0001t0005g0237 a0001c0001t0005g0261 a0001c0001t0005g0320 a0004c0007t0002g0312	11	438	0.0251	13	c.471 others(30): Show c.471+2816_471+2828dupTTTTTTTTTTTTT		CHMP7	ENSG00000147457.14	transcript	ENST00000397677.6	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
CHM_chrX_85856180_86052558	85913332	A A	AAAAAGAA others(6): Show AAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02071.hp1 HG02109.hp2 others(4): Show HG01516.hp1 HG02071.hp1 HG02109.hp2 HG04184.hp2 NA18747.hp1 NA18972.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0012 a0001c0008t0013 a0001c0001t0001 a0001c0001t0012 a0001c0008t0013	a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0039 others(4): Show a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0098 a0001c0001t0001g0163 a0001c0001t0012g0224 a0001c0008t0013g0190	7	245	0.0286	13	c.116 others(32): Show c.1167-1995_1167-1994insCTTTCTTTCTTTT		CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14						chrX	TogoVar
CHM_chrX_85856180_86052558	85913332	A A	AGAAAGAA others(6): Show AGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA18969.hp2 NA19007.hp1 others(1): Show HG03195.hp1 NA18969.hp2 NA19007.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0093 a0001c0001t0001g0123 others(1): Show a0001c0001t0001g0028 a0001c0001t0001g0093 a0001c0001t0001g0123 a0001c0001t0001g0149	4	245	0.0163	13	c.116 others(32): Show c.1167-1995_1167-1994insCTTTCTTTCTTTC		CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14						chrX	TogoVar
CHM_chrX_85856180_86052558	86013734	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03139.hp1 HG03195.hp1 others(1): Show HG02922.hp2 HG03139.hp1 HG03195.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 others(1): Show a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0112	4	245	0.0163	13	c.116 others(32): Show c.116+13756_116+13757insCTTTTTTTTTTTT		CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	2/14						chrX	TogoVar
CHN1_chr2_174793809_175010381	174847773	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA18522.hp2 HG03516.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0027 a0001c0001t0006g0049 a0001c0001t0006g0027 a0001c0001t0006g0049	2	276	0.0073	13	c.550 others(28): Show c.550-829_550-817dupTTTTTTTTTTTTT		CHN1	ENSG00000128656.15	transcript	ENST00000409900.9	protein_coding	6/12						chr2	TogoVar
CHN2_chr7_29189775_29519328	29233825	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00642.hp1 HG01496.hp1 others(8): Show HG00438.hp2 HG00642.hp1 HG01496.hp1 HG01952.hp1 HG02109.hp2 HG03239.hp2 NA18906.hp1 NA19074.hp2 NA19079.hp1 NA19080.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0002t0004 a0001c0002t0007 a0001c0005t0001 a0002c0003t0004 a0002c0003t0021	a0001c0001t0001g0192 a0001c0001t0003g0058 a0001c0001t0003g0161 others(8): Show a0001c0001t0001g0192 a0001c0001t0003g0058 a0001c0001t0003g0161 a0001c0001t0005g0159 a0001c0001t0005g0174 a0001c0001t0008g0176 a0001c0002t0004g0169 a0001c0002t0007g0152 a0001c0005t0001g0137 a0002c0003t0004g0110 a0002c0003t0021g0112	11	232	0.0474	13	c.49+ others(30): Show c.49+38849_49+38861dupTTTTTTTTTTTTT		CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29252578	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02615.hp2 HG03225.hp1 others(2): Show HG01069.hp1 HG02615.hp2 HG03225.hp1 HG03704.hp2 HG03831.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0007 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0012 a0002c0003t0002	a0001c0001t0001g0015 a0001c0001t0001g0136 a0001c0001t0007g0222 others(2): Show a0001c0001t0001g0015 a0001c0001t0001g0136 a0001c0001t0007g0222 a0001c0001t0012g0055 a0002c0003t0002g0070	5	232	0.0216	13	c.49+ others(30): Show c.49+57604_49+57616dupTTTTTTTTTTTTT		CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29280383	C C	CAATAAAT others(6): Show CAATAAATAAATAA	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA18984.hp2 HG04228.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0002 a0001c0001t0006 a0001c0002t0002	a0001c0001t0006g0066 a0001c0002t0002g0007 a0001c0001t0006g0066 a0001c0002t0002g0007	2	232	0.0086	13	c.50- others(30): Show c.50-74241_50-74240insATAAATAAATAAA		CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29396459	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0143 a0001c0001t0003g0143	1	232	0.0043	13	c.177 others(30): Show c.177-1900_177-1888dupAAAAAAAAAAAAA		CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29442934	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02572.hp1 HG02602.hp2 others(4): Show HG02129.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02809.hp2 HG03486.hp1 HG03834.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0002c0004	a0001c0001t0006 a0001c0001t0019 a0001c0002t0003 others(4): Show a0001c0001t0006 a0001c0001t0019 a0001c0002t0003 a0001c0005t0001 a0001c0005t0005 a0001c0006t0022 a0002c0004t0005	a0001c0001t0006g0001 a0001c0001t0019g0115 a0001c0002t0003g0068 others(4): Show a0001c0001t0006g0001 a0001c0001t0019g0115 a0001c0002t0003g0068 a0001c0005t0001g0185 a0001c0005t0005g0114 a0001c0006t0022g0119 a0002c0004t0005g0211	7	232	0.0302	13	c.577 others(32): Show c.577-37340_577-37328dupTTTTTTTTTTTTT		CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29473482	T T	TTTTTTTT others(6): Show TTTTTTTTTTTGTG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0006	a0002c0004t0006g0113 a0002c0004t0006g0113	1	232	0.0043	13	c.577 others(30): Show c.577-6796_577-6795insTTTTTTTTTGTGT		CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29473482	T T	TTTTTTTT others(6): Show TTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0012 a0002c0004t0012	a0002c0004t0012g0180 a0002c0004t0012g0180	1	232	0.0043	13	c.577 others(30): Show c.577-6796_577-6795insTTTTTTTTTTTGT		CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29494950	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0065 a0001c0001t0008g0065	1	232	0.0043	13	c.655 others(28): Show c.655-983_655-971dupAAAAAAAAAAAAA		CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
CHP2_chr16_23750026_23763935	23759423	T T	TCTTTCTT others(6): Show TCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	392	0.0026	13	c.18 others(24): Show c.1840_*1841insCTTTCTTTCTTTC		CHP2	ENSG00000166869.3	transcript	ENST00000300113.3	protein_coding					489		chr16	TogoVar
CHPF_chr2_219533954_219548809	219546778	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0018 a0005c0010t0001g0018	1	396	0.0025	13	c.-32 others(24): Show c.-3253_-3241dupAAAAAAAAAAAAA		CHPF	ENSG00000123989.15	transcript	ENST00000243776.11	protein_coding					2970		chr2	TogoVar
CHRM2_chr7_136863652_137025213	136930898	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01175.hp2 HG02145.hp2 others(8): Show HG00735.hp2 HG01175.hp2 HG02145.hp2 HG02559.hp1 HG02818.hp2 HG03834.hp1 HG04115.hp1 NA18973.hp2 NA18995.hp1 NA19043.hp1 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0031	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0284 others(8): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0284 a0001c0001t0007g0088 a0001c0001t0007g0287 a0001c0001t0007g0302 a0001c0001t0007g0316 a0001c0001t0008g0086 a0001c0001t0008g0087 a0001c0001t0008g0091 a0001c0001t0031g0096	11	320	0.0344	13	c.-12 others(34): Show c.-124-61272_-124-61260dupAAAAAAAAAAAAA		CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM2_chr7_136863652_137025213	136949459	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02896.hp1 HG01884.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0053 a0001c0001t0015 a0001c0001t0053	a0001c0001t0015g0262 a0001c0001t0053g0263 a0001c0001t0015g0262 a0001c0001t0053g0263	2	320	0.0063	13	c.-12 others(34): Show c.-124-42721_-124-42709dupAAAAAAAAAAAAA		CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM2_chr7_136863652_137025213	136973198	C C	CAGGTGAC others(6): Show CAGGTGACGATGGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA20129.hp2 HG01891.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0033 a0001c0001t0024 a0001c0001t0033	a0001c0001t0024g0067 a0001c0001t0033g0103 a0001c0001t0024g0067 a0001c0001t0033g0103	2	320	0.0063	13	c.-12 others(34): Show c.-124-18989_-124-18988insAGGTGACGATGGT		CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	2/3						chr7	TogoVar
CHRM2_chr7_136863652_137025213	136973198	C C	CAGGTGAT others(6): Show CAGGTGATGATGGT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG03486.hp2 NA18939.hp2 others(1): Show HG01433.hp1 HG03486.hp2 NA18939.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0034 a0001c0002t0001 others(1): Show a0001c0001t0004 a0001c0001t0034 a0001c0002t0001 a0001c0002t0005	a0001c0001t0004g0256 a0001c0001t0034g0143 a0001c0002t0001g0027 others(1): Show a0001c0001t0004g0256 a0001c0001t0034g0143 a0001c0002t0001g0027 a0001c0002t0005g0030	4	320	0.0125	13	c.-12 others(34): Show c.-124-18989_-124-18988insAGGTGATGATGGT		CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	2/3						chr7	TogoVar
CHRM3_chr1_239381568_239920450	239383054	G G	GTCTCTCT others(6): Show GTCTCTCTCTTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0065 a0001c0001t0006g0065	1	116	0.0086	13	c.-46 others(24): Show c.-4694_-4693insTCTCTCTCTTCTC		CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding					3513		chr1	TogoVar
CHRM3_chr1_239381568_239920450	239404719	A A	AATATATA others(6): Show AATATATATAATAT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	116	0.0086	13	c.-52 others(34): Show c.-521+17501_-521+17502insATATATATATATA		CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239874301	A A	ATCTATAT others(6): Show ATCTATATACACAG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0032 a0001c0001t0038g0032	1	116	0.0086	13	c.-19 others(32): Show c.-19-33131_-19-33130insCTATATACACAGT		CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM5_chr15_33963497_34072458	34053315	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0011 a0002c0010t0011	a0002c0010t0011g0269 a0002c0010t0011g0269	1	338	0.0030	13	c.-76 others(30): Show c.-76+6444_-76+6445insTATATATATATAT		CHRM5	ENSG00000184984.10	transcript	ENST00000383263.7	protein_coding	2/2						chr15	TogoVar
CHRNA10_chr11_3660587_3676384	3663073	C C	CTCATCTC others(6): Show CTCATCTCATCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0049 a0001c0011t0001g0049	1	450	0.0022	13	c.30 others(24): Show c.3033_*3034insTGAGATGAGATGA		CHRNA10	ENSG00000129749.3	transcript	ENST00000250699.2	protein_coding					2513		chr11	TogoVar
CHRNA10_chr11_3660587_3676384	3663094	C C	CTCATCTC others(6): Show CTCATCTCATCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00741.hp1 HG01106.hp1 others(1): Show HG00735.hp1 HG00741.hp1 HG01106.hp1 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0019 a0002c0002t0006g0020 a0002c0002t0006g0019 a0002c0002t0006g0020	4	450	0.0089	13	c.30 others(24): Show c.3000_*3012dupTGAGATGAGATGA		CHRNA10	ENSG00000129749.3	transcript	ENST00000250699.2	protein_coding					2492		chr11	TogoVar
CHRNA10_chr11_3660587_3676384	3663129	C C	CTCATCTC others(6): Show CTCATCTCATCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0043 a0006c0007t0001g0043	1	450	0.0022	13	c.29 others(24): Show c.2965_*2977dupTGAGATGAGATGA		CHRNA10	ENSG00000129749.3	transcript	ENST00000250699.2	protein_coding					2457		chr11	TogoVar
CHRNA4_chr20_63338223_63366349	63361724	C C	CGCGCAAG others(6): Show CGCGCAAGGAGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0049 a0001c0002t0004g0049	1	168	0.0060	13	c.-56 others(22): Show c.-560_-559insCCCCTCCTTGCGC		CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding					376		chr20	TogoVar
CHRNA5_chr15_78560520_78600269	78570424	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00735.hp1 HG01361.hp2 others(12): Show HG00558.hp1 HG00735.hp1 HG01361.hp2 HG02083.hp1 HG03471.hp2 NA18949.hp2 NA18957.hp2 NA18965.hp1 NA18971.hp2 NA18977.hp2 NA18986.hp1 NA19004.hp2 NA19012.hp1 NA19066.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0012 a0001c0001t0001g0040 a0001c0001t0001g0125 others(9): Show a0001c0001t0001g0012 a0001c0001t0001g0040 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0274 a0001c0001t0001g0288 a0001c0001t0006g0124 a0001c0001t0006g0146 a0001c0001t0006g0147	15	382	0.0393	13	c.106 others(30): Show c.106+4612_106+4624dupTTTTTTTTTTTTT		CHRNA5	ENSG00000169684.13	transcript	ENST00000299565.9	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr15	TogoVar
CHRNA7_chr15_32025515_32178018	32044253	C C	CTCCCTTC others(6): Show CTCCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0206 a0001c0001t0029g0206	1	307	0.0033	13	c.195 others(32): Show c.195+13219_195+13220insCTTCCTTCCTTCC		CHRNA7	ENSG00000175344.19	transcript	ENST00000306901.9	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr15	TogoVar
CHRNA7_chr15_32025515_32178018	32070669	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0198 a0001c0001t0013g0198	1	307	0.0033	13	c.196 others(32): Show c.196-30611_196-30599dupTTTTTTTTTTTTT		CHRNA7	ENSG00000175344.19	transcript	ENST00000306901.9	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr15	TogoVar
CHRNA7_chr15_32025515_32178018	32137034	A A	AAAAAAAT others(6): Show AAAAAAATAAAAAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0191 a0001c0001t0015g0191	1	307	0.0033	13	c.351 others(32): Show c.351-16867_351-16866insTAAAAATAAAAAA		CHRNA7	ENSG00000175344.19	transcript	ENST00000306901.9	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr15	TogoVar
CHRNA7_chr15_32025515_32178018	32138726	C C	CTGTTGTT others(6): Show CTGTTGTTTTGTTT	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0136 a0001c0002t0002g0136	1	307	0.0033	13	c.351 others(32): Show c.351-15177_351-15176insGTTTTGTTTTGTT		CHRNA7	ENSG00000175344.19	transcript	ENST00000306901.9	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr15	TogoVar
CHRNB3_chr8_42692366_42742407	42703435	A A	AAAAAAAA others(6): Show AAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0175	1	282	0.0036	13	c.53- others(28): Show c.53-5281_53-5280insAAAAAAAAATATA		CHRNB3	ENSG00000147432.7	transcript	ENST00000289957.3	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr8	TogoVar
CHRNB3_chr8_42692366_42742407	42703435	A A	AAAAAAAA others(6): Show AAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0207 a0001c0001t0002g0207	1	282	0.0036	13	c.53- others(28): Show c.53-5281_53-5280insAAAAAAATATATA		CHRNB3	ENSG00000147432.7	transcript	ENST00000289957.3	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr8	TogoVar
CHRND_chr2_232521160_232541664	232531946	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0119 a0001c0002t0002g0119	1	438	0.0023	13	c.104 others(30): Show c.1047+306_1047+318dupAAAAAAAAAAAAA		CHRND	ENSG00000135902.10	transcript	ENST00000258385.8	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
CHST11_chr12_104451948_104767014	104453133	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0071 a0001c0001t0052g0071	1	240	0.0042	13	c.-42 others(24): Show c.-4279_-4278insAAAAAAAAAAAAA		CHST11	ENSG00000171310.11	transcript	ENST00000303694.6	protein_coding					3814		chr12	TogoVar

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Search Results (Total: 10000 hits)