Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	chr	external
AAMDC_chr11_77816144_77877352	77870648	T T	G G	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0370 a0001c0001t0001g0370	1	382	0.0026	0	c.228 others(7): Show c.228+831T>G	AAMDC	ENSG00000087884.16	transcript	ENST00000393427.7	protein_coding	3/3	chr11	TogoVar
AAMDC_chr11_77816144_77877352	77870665	A A	G G	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19058.hp2 NA19003.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0212 a0001c0001t0001g0183 a0001c0001t0001g0212	2	382	0.0052	0	c.228 others(7): Show c.228+848A>G	AAMDC	ENSG00000087884.16	transcript	ENST00000393427.7	protein_coding	3/3	chr11	TogoVar
AAMDC_chr11_77816144_77877352	77870707	T T	G G	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0229 a0001c0002t0002g0229	1	382	0.0026	0	c.228 others(7): Show c.228+890T>G	AAMDC	ENSG00000087884.16	transcript	ENST00000393427.7	protein_coding	3/3	chr11	TogoVar
AAMDC_chr11_77816144_77877352	77870714	A A	G G	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0253 a0001c0002t0002g0253	1	382	0.0026	0	c.228 others(7): Show c.228+897A>G	AAMDC	ENSG00000087884.16	transcript	ENST00000393427.7	protein_coding	3/3	chr11	TogoVar
AAMDC_chr11_77816144_77877352	77870878	T T	A A	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18988.hp1 NA19056.hp2 others(1): Show NA18940.hp1 NA18988.hp1 NA19056.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0173 a0001c0001t0001g0191 others(1): Show a0001c0001t0001g0148 a0001c0001t0001g0173 a0001c0001t0001g0191 a0001c0001t0001g0199	4	382	0.0105	0	c.228 others(8): Show c.228+1061T>A	AAMDC	ENSG00000087884.16	transcript	ENST00000393427.7	protein_coding	3/3	chr11	TogoVar
AAMDC_chr11_77816144_77877352	77871145	T T	C C	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0229 a0001c0002t0002g0229	1	382	0.0026	0	c.229 others(8): Show c.229-1030T>C	AAMDC	ENSG00000087884.16	transcript	ENST00000393427.7	protein_coding	3/3	chr11	TogoVar
AAMDC_chr11_77816144_77877352	77871168	G G	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0090 a0001c0002t0001g0090	1	382	0.0026	0	c.229 others(8): Show c.229-1007G>A	AAMDC	ENSG00000087884.16	transcript	ENST00000393427.7	protein_coding	3/3	chr11	TogoVar
AAMDC_chr11_77816144_77877352	77871328	A A	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02809.hp1 NA20129.hp1 HG01081.hp1 HG02809.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0076 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0076 a0001c0002t0001g0078 a0001c0002t0001g0079	3	382	0.0079	0	c.229 others(7): Show c.229-847A>G	AAMDC	ENSG00000087884.16	transcript	ENST00000393427.7	protein_coding	3/3	chr11	TogoVar
AAMDC_chr11_77816144_77877352	77871478	A A	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0312 a0001c0001t0001g0312	1	382	0.0026	0	c.229 others(7): Show c.229-697A>G	AAMDC	ENSG00000087884.16	transcript	ENST00000393427.7	protein_coding	3/3	chr11	TogoVar
AAMDC_chr11_77816144_77877352	77871511	T T	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	382	0.0026	0	c.229 others(7): Show c.229-664T>C	AAMDC	ENSG00000087884.16	transcript	ENST00000393427.7	protein_coding	3/3	chr11	TogoVar
AAMDC_chr11_77816144_77877352	77871697	C C	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(157): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00423.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01993.hp1 HG02027.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03927.hp2 HG03942.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp2 NA18946.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18974.hp2 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18994.hp1 NA18994.hp2 NA19003.hp2 NA19005.hp2 NA19011.hp1 NA19030.hp2 NA19056.hp1 NA19057.hp1 NA19062.hp1 NA19068.hp1 NA19074.hp1 NA19078.hp1 NA19081.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp2 NA19240.hp1 NA20129.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0002c0004 a0001c0002 a0002c0003 a0002c0004	a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 others(1): Show a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0002c0004t0001	a0001c0002t0001g0009 a0001c0002t0001g0012 a0001c0002t0001g0019 others(153): Show a0001c0002t0001g0009 a0001c0002t0001g0012 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0085 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0109 a0001c0002t0002g0207 a0001c0002t0002g0208 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0227 a0001c0002t0002g0228 a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0002t0002g0231 a0001c0002t0002g0232 a0001c0002t0002g0233 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0260 a0001c0002t0002g0261 a0001c0002t0002g0262 a0001c0002t0002g0263 a0001c0002t0002g0264 a0001c0002t0002g0265 a0001c0002t0002g0266 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0282 a0001c0002t0002g0348 a0001c0002t0002g0349 a0001c0002t0002g0350 a0001c0002t0002g0351 a0001c0002t0002g0352 a0001c0002t0002g0353 a0002c0003t0001g0002 a0002c0003t0001g0003 a0002c0003t0001g0013 a0002c0003t0001g0015 a0002c0003t0001g0016 a0002c0003t0001g0017 a0002c0003t0001g0018 a0002c0003t0001g0026 a0002c0003t0001g0027 a0002c0003t0001g0028 a0002c0003t0001g0029 a0002c0003t0001g0030 a0002c0003t0001g0031 a0002c0003t0001g0032 a0002c0003t0001g0033 a0002c0003t0001g0034 a0002c0003t0001g0035 a0002c0003t0001g0036 a0002c0003t0001g0037 a0002c0003t0001g0038 a0002c0003t0001g0039 a0002c0003t0001g0040 a0002c0003t0001g0041 a0002c0003t0001g0042 a0002c0003t0001g0043 a0002c0003t0001g0044 a0002c0003t0001g0045 a0002c0003t0001g0046 a0002c0003t0001g0047 a0002c0003t0001g0048 a0002c0003t0001g0049 a0002c0003t0001g0050 a0002c0003t0001g0051 a0002c0003t0001g0052 a0002c0003t0001g0053 a0002c0003t0001g0054 a0002c0003t0001g0055 a0002c0003t0001g0056 a0002c0003t0001g0057 a0002c0003t0001g0058 a0002c0003t0001g0059 a0002c0003t0001g0060 a0002c0003t0001g0061 a0002c0003t0001g0062 a0002c0003t0001g0063 a0002c0003t0001g0064 a0002c0003t0001g0065 a0002c0003t0001g0066 a0002c0003t0001g0067 a0002c0003t0001g0068 a0002c0003t0001g0069 a0002c0003t0001g0070 a0002c0003t0001g0071 a0002c0003t0001g0072 a0002c0003t0001g0073 a0002c0003t0001g0074 a0002c0003t0001g0075 a0002c0003t0001g0077 a0002c0003t0001g0080 a0002c0003t0001g0081 a0002c0003t0001g0082 a0002c0003t0001g0083 a0002c0003t0001g0084 a0002c0003t0001g0086 a0002c0003t0001g0087 a0002c0003t0001g0088 a0002c0004t0001g0025	160	382	0.4189	0	c.229 others(7): Show c.229-478C>T	AAMDC	ENSG00000087884.16	transcript	ENST00000393427.7	protein_coding	3/3	chr11	TogoVar
AAMDC_chr11_77816144_77877352	77871802	T T	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0037 a0002c0003t0001g0037	1	382	0.0026	0	c.229 others(7): Show c.229-373T>G	AAMDC	ENSG00000087884.16	transcript	ENST00000393427.7	protein_coding	3/3	chr11	TogoVar
AAMDC_chr11_77816144_77877352	77871914	T T	C C	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0232 a0001c0002t0002g0232	1	382	0.0026	0	c.229 others(7): Show c.229-261T>C	AAMDC	ENSG00000087884.16	transcript	ENST00000393427.7	protein_coding	3/3	chr11	TogoVar
AAMDC_chr11_77816144_77877352	77871983	G G	A A	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	382	0.0026	0	c.229 others(7): Show c.229-192G>A	AAMDC	ENSG00000087884.16	transcript	ENST00000393427.7	protein_coding	3/3	chr11	TogoVar
AAMDC_chr11_77816144_77877352	77872002	C C	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02647.hp2 HG02818.hp1 others(3): Show HG01496.hp2 HG02647.hp2 HG02818.hp1 HG02922.hp1 HG03209.hp1 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0109 a0001c0002t0002g0207 a0001c0002t0002g0350 others(3): Show a0001c0002t0002g0109 a0001c0002t0002g0207 a0001c0002t0002g0350 a0001c0002t0002g0351 a0001c0002t0002g0352 a0001c0002t0002g0353	6	382	0.0157	0	c.229 others(7): Show c.229-173C>G	AAMDC	ENSG00000087884.16	transcript	ENST00000393427.7	protein_coding	3/3	chr11	TogoVar
AAMDC_chr11_77816144_77877352	77872015	T T	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0023 a0001c0002t0001g0023	1	382	0.0026	0	c.229 others(7): Show c.229-160T>C	AAMDC	ENSG00000087884.16	transcript	ENST00000393427.7	protein_coding	3/3	chr11	TogoVar
AAMDC_chr11_77816144_77877352	77872089	C C	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01123.hp1 HG00140.hp2 HG01123.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0268 a0001c0002t0002g0269	2	382	0.0052	0	c.229 others(6): Show c.229-86C>G	AAMDC	ENSG00000087884.16	transcript	ENST00000393427.7	protein_coding	3/3	chr11	TogoVar
AAMP_chr2_218259129_218275137	218264698	A A	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0056 a0001c0003t0001g0056	1	400	0.0025	0	c.123 others(7): Show c.1230-90T>A	AAMP	ENSG00000127837.10	transcript	ENST00000248450.9	protein_coding	10/10	chr2	TogoVar
AAMP_chr2_218259129_218275137	218264720	G G	C C	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	400	0.0025	0	c.123 others(8): Show c.1230-112C>G	AAMP	ENSG00000127837.10	transcript	ENST00000248450.9	protein_coding	10/10	chr2	TogoVar
AAMP_chr2_218259129_218275137	218264901	G G	T T	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	400	0.0025	0	c.122 others(8): Show c.1229+119C>A	AAMP	ENSG00000127837.10	transcript	ENST00000248450.9	protein_coding	10/10	chr2	TogoVar
AAMP_chr2_218259129_218275137	218264980	C C	G G	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18963.hp2 NA18984.hp2 NA18953.hp2 NA18963.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0052 a0001c0001t0001g0026 a0001c0001t0001g0052	3	400	0.0075	0	c.122 others(7): Show c.1229+40G>C	AAMP	ENSG00000127837.10	transcript	ENST00000248450.9	protein_coding	10/10	chr2	TogoVar
AAMP_chr2_218259129_218275137	218265182	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG01069.hp2 HG01167.hp1 others(1): Show HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0047 a0001c0001t0001g0016 a0001c0001t0001g0047	4	400	0.0100	0	c.107 others(6): Show c.1075-8C>T	AAMP	ENSG00000127837.10	transcript	ENST00000248450.9	protein_coding	9/10	chr2	TogoVar
AAMP_chr2_218259129_218275137	218265310	C C	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0050 a0002c0002t0001g0050	1	400	0.0025	0	c.107 others(7): Show c.1074+61G>A	AAMP	ENSG00000127837.10	transcript	ENST00000248450.9	protein_coding	9/10	chr2	TogoVar
AAMP_chr2_218259129_218275137	218265333	A A	G G	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18612.hp1 HG02056.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	2	400	0.0050	0	c.107 others(7): Show c.1074+38T>C	AAMP	ENSG00000127837.10	transcript	ENST00000248450.9	protein_coding	9/10	chr2	TogoVar
AAMP_chr2_218259129_218275137	218265510	C C	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG02257.hp1 others(8): Show HG01891.hp1 HG02055.hp1 HG02257.hp1 HG02280.hp2 HG02647.hp2 HG02965.hp1 HG03540.hp2 NA18522.hp2 NA18906.hp2 NA19030.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	11	400	0.0275	0	c.984 others(6): Show c.984-49G>A	AAMP	ENSG00000127837.10	transcript	ENST00000248450.9	protein_coding	8/10	chr2	TogoVar
AAMP_chr2_218259129_218275137	218265519	G G	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02922.hp2 HG03139.hp2 HG02615.hp2 HG02922.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	3	400	0.0075	0	c.984 others(6): Show c.984-58C>T	AAMP	ENSG00000127837.10	transcript	ENST00000248450.9	protein_coding	8/10	chr2	TogoVar
AAMP_chr2_218259129_218275137	218265791	G G	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01069.hp2 HG01167.hp1 others(4): Show HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 HG02074.hp1 HG02622.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0042 others(1): Show a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0042 a0001c0001t0001g0047	7	400	0.0175	0	c.879 others(6): Show c.879+40C>T	AAMP	ENSG00000127837.10	transcript	ENST00000248450.9	protein_coding	7/10	chr2	TogoVar
AAMP_chr2_218259129_218275137	218266038	G G	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	400	0.0025	0	c.763 others(6): Show c.763+26C>T	AAMP	ENSG00000127837.10	transcript	ENST00000248450.9	protein_coding	6/10	chr2	TogoVar
AAMP_chr2_218259129_218275137	218266408	A A	G G	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	400	0.0025	0	c.679 others(6): Show c.679+35T>C	AAMP	ENSG00000127837.10	transcript	ENST00000248450.9	protein_coding	5/10	chr2	TogoVar
AAMP_chr2_218259129_218275137	218266425	C C	T T	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA19074.hp2 NA18971.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0030 a0001c0001t0003g0030	2	400	0.0050	0	c.679 others(6): Show c.679+18G>A	AAMP	ENSG00000127837.10	transcript	ENST00000248450.9	protein_coding	5/10	chr2	TogoVar
AAMP_chr2_218259129_218275137	218266621	G G	A A	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	400	0.0025	0	c.535 others(6): Show c.535-34C>T	AAMP	ENSG00000127837.10	transcript	ENST00000248450.9	protein_coding	4/10	chr2	TogoVar
AAMP_chr2_218259129_218275137	218266725	G G	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	400	0.0025	0	c.534 others(7): Show c.534+122C>T	AAMP	ENSG00000127837.10	transcript	ENST00000248450.9	protein_coding	4/10	chr2	TogoVar
AAMP_chr2_218259129_218275137	218267106	T T	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01975.hp2 HG02055.hp1 others(26): Show HG01891.hp1 HG01975.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02965.hp1 HG03471.hp1 HG03540.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18971.hp2 NA19030.hp2 NA19043.hp2 NA19074.hp2 NA19240.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0001 a0001c0001t0003 a0005c0008t0001 a0001c0001t0001 a0001c0001t0003 a0005c0008t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0017 others(2): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0003g0030 a0005c0008t0001g0032	29	400	0.0725	0	c.395 others(7): Show c.395-120A>G	AAMP	ENSG00000127837.10	transcript	ENST00000248450.9	protein_coding	3/10	chr2	TogoVar
AAMP_chr2_218259129_218275137	218267128	T T	G G	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	400	0.0025	0	c.395 others(7): Show c.395-142A>C	AAMP	ENSG00000127837.10	transcript	ENST00000248450.9	protein_coding	3/10	chr2	TogoVar
AAMP_chr2_218259129_218275137	218267327	G G	A A	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	400	0.0025	0	c.394 others(7): Show c.394+167C>T	AAMP	ENSG00000127837.10	transcript	ENST00000248450.9	protein_coding	3/10	chr2	TogoVar
AAMP_chr2_218259129_218275137	218267435	C C	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	400	0.0025	0	c.394 others(6): Show c.394+59G>T	AAMP	ENSG00000127837.10	transcript	ENST00000248450.9	protein_coding	3/10	chr2	TogoVar
AAMP_chr2_218259129_218275137	218267617	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	400	0.0025	0	c.275 others(5): Show c.275-4A>G	AAMP	ENSG00000127837.10	transcript	ENST00000248450.9	protein_coding	2/10	chr2	TogoVar
AAMP_chr2_218259129_218275137	218267642	G G	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02630.hp1 HG02809.hp2 HG02615.hp1 HG02630.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	3	400	0.0075	0	c.275 others(6): Show c.275-29C>A	AAMP	ENSG00000127837.10	transcript	ENST00000248450.9	protein_coding	2/10	chr2	TogoVar
AAMP_chr2_218259129_218275137	218267658	C C	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01069.hp2 HG01167.hp1 others(3): Show HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 HG02074.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0047 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0047	6	400	0.0150	0	c.275 others(6): Show c.275-45G>A	AAMP	ENSG00000127837.10	transcript	ENST00000248450.9	protein_coding	2/10	chr2	TogoVar
AAMP_chr2_218259129_218275137	218267677	A A	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA18522.hp1 HG03453.hp1 NA18522.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0001 a0005c0008t0001 a0001c0001t0001 a0005c0008t0001	a0001c0001t0001g0035 a0005c0008t0001g0032 a0001c0001t0001g0035 a0005c0008t0001g0032	2	400	0.0050	0	c.275 others(6): Show c.275-64T>C	AAMP	ENSG00000127837.10	transcript	ENST00000248450.9	protein_coding	2/10	chr2	TogoVar
AAMP_chr2_218259129_218275137	218267867	G G	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0032 a0005c0008t0001g0032	1	400	0.0025	0	c.275 others(7): Show c.275-254C>T	AAMP	ENSG00000127837.10	transcript	ENST00000248450.9	protein_coding	2/10	chr2	TogoVar
AAMP_chr2_218259129_218275137	218267925	T T	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	400	0.0025	0	c.275 others(7): Show c.275-312A>T	AAMP	ENSG00000127837.10	transcript	ENST00000248450.9	protein_coding	2/10	chr2	TogoVar
AAMP_chr2_218259129_218275137	218267958	GGTTTTTT GGTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02809.hp1 HG03041.hp2 others(7): Show HG02717.hp1 HG02809.hp1 HG03041.hp2 HG03486.hp1 HG03579.hp2 NA18522.hp1 NA18959.hp1 NA18971.hp2 NA19074.hp2 NA19084.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0006 a0005c0008 a0001c0001 a0004c0006 a0005c0008	a0001c0001t0001 a0001c0001t0003 a0004c0006t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0004c0006t0001 a0005c0008t0001	a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0003g0030 others(2): Show a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0003g0030 a0004c0006t0001g0028 a0005c0008t0001g0032	10	400	0.0250	-7	c.275 others(22): Show c.275-352_275-346delAAAAAAC	AAMP	ENSG00000127837.10	transcript	ENST00000248450.9	protein_coding	2/10	chr2	TogoVar
AAMP_chr2_218259129_218275137	218268008	G G	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00408.hp1 others(133): Show HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00735.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02080.hp1 HG02129.hp2 HG02145.hp1 HG02148.hp2 HG02165.hp2 HG02258.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02523.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02723.hp1 HG02738.hp2 HG02922.hp2 HG03139.hp1 HG03139.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03927.hp2 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp2 NA18943.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18953.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18967.hp2 NA18968.hp2 NA18970.hp1 NA18972.hp2 NA18973.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18984.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19043.hp1 NA19055.hp1 NA19057.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19082.hp1 NA19084.hp2 NA19088.hp1 NA19088.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0001 a0006c0010t0001 a0001c0001t0001 a0006c0010t0001	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0015 others(10): Show a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0053 a0006c0010t0001g0054	136	400	0.3400	0	c.275 others(7): Show c.275-395C>T	AAMP	ENSG00000127837.10	transcript	ENST00000248450.9	protein_coding	2/10	chr2	TogoVar
AAMP_chr2_218259129_218275137	218268073	A A	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01167.hp2 HG01433.hp1 others(2): Show HG00738.hp2 HG01167.hp2 HG01433.hp1 HG02683.hp2 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0013 a0001c0009t0001g0046 a0001c0001t0001g0013 a0001c0009t0001g0046	5	400	0.0125	0	c.275 others(7): Show c.275-460T>C	AAMP	ENSG00000127837.10	transcript	ENST00000248450.9	protein_coding	2/10	chr2	TogoVar
AAMP_chr2_218259129_218275137	218268114	G G	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18971.hp2 NA19074.hp2 NA18522.hp1 NA18971.hp2 NA19074.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0003 a0005c0008t0001 a0001c0001t0003 a0005c0008t0001	a0001c0001t0003g0030 a0005c0008t0001g0032 a0001c0001t0003g0030 a0005c0008t0001g0032	3	400	0.0075	0	c.275 others(7): Show c.275-501C>T	AAMP	ENSG00000127837.10	transcript	ENST00000248450.9	protein_coding	2/10	chr2	TogoVar
AAMP_chr2_218259129_218275137	218268213	C C	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	400	0.0025	0	c.275 others(7): Show c.275-600G>A	AAMP	ENSG00000127837.10	transcript	ENST00000248450.9	protein_coding	2/10	chr2	TogoVar
AAMP_chr2_218259129_218275137	218268405	C C	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	400	0.0025	0	c.275 others(7): Show c.275-792G>A	AAMP	ENSG00000127837.10	transcript	ENST00000248450.9	protein_coding	2/10	chr2	TogoVar
AAMP_chr2_218259129_218275137	218268414	A A	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00408.hp1 others(133): Show HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00735.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02080.hp1 HG02129.hp2 HG02145.hp1 HG02148.hp2 HG02165.hp2 HG02258.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02523.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02723.hp1 HG02738.hp2 HG02922.hp2 HG03139.hp1 HG03139.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03927.hp2 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp2 NA18943.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18953.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18967.hp2 NA18968.hp2 NA18970.hp1 NA18972.hp2 NA18973.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18984.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19043.hp1 NA19055.hp1 NA19057.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19082.hp1 NA19084.hp2 NA19088.hp1 NA19088.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0001 a0006c0010t0001 a0001c0001t0001 a0006c0010t0001	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0015 others(10): Show a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0053 a0006c0010t0001g0054	136	400	0.3400	0	c.275 others(7): Show c.275-801T>C	AAMP	ENSG00000127837.10	transcript	ENST00000248450.9	protein_coding	2/10	chr2	TogoVar
AAMP_chr2_218259129_218275137	218268506	T T	A A	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18962.hp1 NA18981.hp2 NA18946.hp1 NA18962.hp1 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	3	400	0.0075	0	c.274 others(7): Show c.274+876A>T	AAMP	ENSG00000127837.10	transcript	ENST00000248450.9	protein_coding	2/10	chr2	TogoVar

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