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	distance	status	chr	external
ACTN2_chr1_236681499_236769631	236737297	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG04184.hp2 NA18747.hp2 HG00738.hp2 HG04184.hp2 NA18747.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0006c0022 a0001c0001 a0001c0003 a0006c0022	a0001c0001t0001 a0001c0003t0006 a0006c0022t0001 a0001c0001t0001 a0001c0003t0006 a0006c0022t0001	a0001c0001t0001g0110 a0001c0003t0006g0132 a0006c0022t0001g0203 a0001c0001t0001g0110 a0001c0003t0006g0132 a0006c0022t0001g0203	3	344	0.0087	18	c.876 others(31): Show c.876+83_876+84insTATATATATATATATATA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	9/20			chr1	TogoVar
ACTN2_chr1_236681499_236769631	236740526	C C	CATTTTTA others(11): Show CATTTTTATTTTTATTTTT	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0312 a0001c0001t0001g0312	1	344	0.0029	18	c.110 others(37): Show c.1107+1001_1107+1018dupATTTTTATTTTTATTTTT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN4_chr19_38642649_38736589	38679568	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 NA18955.hp2 HG00140.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0006 a0001c0005t0018 a0001c0001t0006 a0001c0005t0018	a0001c0001t0006g0249 a0001c0005t0018g0308 a0001c0001t0006g0249 a0001c0005t0018g0308	2	314	0.0064	18	c.163 others(37): Show c.163-21017_163-21000dupGTGTGTGTGTGTGTGTGT	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735639	G G	GGTAGGGA others(11): Show GGTAGGGACCGTAGGGACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02040.hp2 HG02055.hp2 others(25): Show HG02015.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02132.hp2 HG02738.hp1 HG02738.hp2 HG03017.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG03942.hp1 HG04184.hp1 HG04228.hp1 NA18612.hp2 NA18939.hp1 NA18941.hp1 NA18954.hp2 NA18955.hp2 NA18970.hp1 NA18993.hp2 NA19003.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19079.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0004 a0001c0001t0006 a0001c0001t0019 others(2): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0019 a0001c0001t0044 a0001c0015t0004	a0001c0001t0004g0221 a0001c0001t0004g0255 a0001c0001t0004g0256 others(25): Show a0001c0001t0004g0221 a0001c0001t0004g0255 a0001c0001t0004g0256 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0004g0260 a0001c0001t0004g0261 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0264 a0001c0001t0004g0265 a0001c0001t0004g0266 a0001c0001t0004g0267 a0001c0001t0004g0271 a0001c0001t0004g0272 a0001c0001t0004g0273 a0001c0001t0004g0285 a0001c0001t0006g0249 a0001c0001t0006g0250 a0001c0001t0006g0251 a0001c0001t0006g0252 a0001c0001t0006g0253 a0001c0001t0006g0254 a0001c0001t0006g0298 a0001c0001t0019g0297 a0001c0001t0019g0299 a0001c0001t0044g0259 a0001c0015t0004g0247	28	314	0.0892	18	c.62 others(29): Show c.6207_*6208insGTAGGGACCGTAGGGACC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4051		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735783	G G	GGGGGTTC others(11): Show GGGGGTTCTGGGGCGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0184 a0001c0003t0003g0184	1	314	0.0032	18	c.63 others(29): Show c.6351_*6352insGGGGTTCTGGGGCGGGGC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4195		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38736008	A A	AGGTCTCG others(11): Show AGGTCTCGGGGGTCTCGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01975.hp1 HG03017.hp2 others(6): Show HG01099.hp1 HG01975.hp1 HG03017.hp2 HG03041.hp1 HG03471.hp2 HG04115.hp1 NA18522.hp2 NA18952.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0001t0004 a0001c0001t0020 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0020 a0001c0002t0001 a0001c0004t0005 a0001c0004t0048	a0001c0001t0002g0104 a0001c0001t0004g0271 a0001c0001t0020g0269 others(6): Show a0001c0001t0002g0104 a0001c0001t0004g0271 a0001c0001t0020g0269 a0001c0002t0001g0282 a0001c0004t0005g0222 a0001c0004t0005g0230 a0001c0004t0005g0240 a0001c0004t0005g0242 a0001c0004t0048g0223	9	314	0.0287	18	c.65 others(29): Show c.6576_*6577insGGTCTCGGGGGTCTCGGG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4420		chr19	TogoVar
ACTR1A_chr10_102474229_102507712	102493001	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01069.hp1 HG01071.hp1 others(23): Show HG00280.hp1 HG01069.hp1 HG01071.hp1 HG01256.hp1 HG01261.hp1 HG01358.hp1 HG02148.hp1 HG02148.hp2 HG02683.hp2 HG03098.hp1 HG03225.hp1 HG03490.hp1 HG03491.hp2 HG03688.hp1 NA18944.hp1 NA18945.hp1 NA18979.hp2 NA18983.hp2 NA18995.hp2 NA19011.hp2 NA19064.hp2 NA19068.hp2 NA19077.hp2 NA19086.hp2 NA19090.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0046 a0001c0001t0003g0049 others(13): Show a0001c0001t0003g0005 a0001c0001t0003g0046 a0001c0001t0003g0049 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0236 a0001c0001t0003g0244 a0001c0001t0003g0248	26	388	0.0670	18	c.49- others(33): Show c.49-2406_49-2389dupTTTTTTTTTTTTTTTTTT	ACTR1A	ENSG00000138107.13	transcript	ENST00000369905.9	protein_coding	1/10			chr10	TogoVar
ACTR3B_chr7_152754752_152860378	152840165	G G	GGGTAGCT others(11): Show GGGTAGCTTTTATTCCAGA	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0059 a0001c0001t0007g0059	1	310	0.0032	18	c.952 others(37): Show c.952-11956_952-11955insCTTTTATTCCAGAGGTAG	ACTR3B	ENSG00000133627.18	transcript	ENST00000256001.13	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ACTR5_chr20_38743460_38777520	38748031	A A	AGGTGCGC others(11): Show AGGTGCGCGCCCGGCCGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG02630.hp1 HG06807.hp1 others(6): Show HG01099.hp2 HG02630.hp1 HG06807.hp1 NA18956.hp2 NA18959.hp2 NA18964.hp2 NA18982.hp2 NA19006.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0022 a0001c0001t0001g0029	9	366	0.0246	18	c.-44 others(27): Show c.-448_-447insGGTGCGCGCCCGGCCGAC	ACTR5	ENSG00000101442.10	transcript	ENST00000243903.6	protein_coding		428		chr20	TogoVar
ACVR1C_chr2_157521767_157633864	157554201	G G	GAGAGAAA others(11): Show GAGAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	216	0.0046	18	c.544 others(35): Show c.544+1891_544+1892insTTCTTTCTTTCTTTCTCT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	3/8			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157862422	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0030 a0001c0004t0008g0030	1	174	0.0058	18	c.-18 others(39): Show c.-183+13356_-183+13373dupGTGTGTGTGTGTGTGTGT	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157862869	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0096 a0001c0002t0015g0096	1	174	0.0058	18	c.-18 others(39): Show c.-183+12926_-183+12927insTTTTTTTTTTTTTTTTTT	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/10			chr2	TogoVar
ACVR2A_chr2_147840029_147935822	147844409	T T	TGCCGCCG others(11): Show TGCCGCCGCCGCCGCCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 NA18975.hp2 NA18998.hp2 others(1): Show HG02109.hp2 NA18975.hp2 NA18998.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0004g0288 a0001c0002t0001g0038 a0001c0002t0001g0059 others(1): Show a0001c0001t0004g0288 a0001c0002t0001g0038 a0001c0002t0001g0059 a0001c0002t0001g0103	4	338	0.0118	18	c.-74 others(27): Show c.-744_-743insGCCGCCGCCGCCGCCGCC	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding		619		chr2	TogoVar
ACVR2A_chr2_147840029_147935822	147845016	T T	TTTTTTTT others(11): Show TTTTTTTTTTGTTTTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0019 a0001c0001t0008g0019	1	338	0.0030	18	c.-13 others(27): Show c.-137_-136insTTTTTTTTTGTTTTTTTG	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding		12		chr2	TogoVar
ACVR2B_chr3_38448890_38498142	38453510	T T	TCCAAGGC others(11): Show TCCAAGGCACAGAGGCGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0171 a0001c0001t0171	a0001c0001t0171g0122 a0001c0001t0171g0122	1	410	0.0024	18	c.-81 others(27): Show c.-813_-812insCCAAGGCACAGAGGCGTC	ACVR2B	ENSG00000114739.14	transcript	ENST00000352511.5	protein_coding		379		chr3	TogoVar
ACYP1_chr14_75048243_75069024	75062101	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02486.hp2 HG02922.hp1 others(1): Show HG02451.hp1 HG02486.hp2 HG02922.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0082 others(1): Show a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0082 a0001c0001t0001g0088	4	322	0.0124	18	c.84+ others(33): Show c.84+1351_84+1368dupTTTTTTTTTTTTTTTTTT	ACYP1	ENSG00000119640.9	transcript	ENST00000238618.8	protein_coding	2/2			chr14	TogoVar
ACYP2_chr2_53966113_54310300	54035009	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01256.hp1 HG01261.hp2 others(4): Show HG01123.hp1 HG01256.hp1 HG01261.hp2 HG02004.hp1 HG02897.hp2 HG02970.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0002 a0001c0002t0008 a0001c0001t0004 a0001c0002t0002 a0001c0002t0008	a0001c0001t0004g0121 a0001c0002t0002g0009 a0001c0002t0002g0042 others(4): Show a0001c0001t0004g0121 a0001c0002t0002g0009 a0001c0002t0002g0042 a0001c0002t0002g0048 a0001c0002t0002g0054 a0001c0002t0002g0271 a0001c0002t0008g0092	7	272	0.0257	18	c.63- others(35): Show c.63-15943_63-15926dupAAAAAAAAAAAAAAAAAA	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54072513	T T	TTCTTCTT others(11): Show TTCTTCTTTCTTTCTTTCC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03490.hp1 HG03239.hp2 HG03490.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0012 a0002c0003t0002g0021 a0002c0003t0002g0012 a0002c0003t0002g0021	2	272	0.0074	18	c.277 others(37): Show c.277+15157_277+15158insCTTTCTTTCTTTCCTCTT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54115905	G G	GGGGGGGG others(11): Show GGGGGGGGGGGGGGGGGGT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0006 a0001c0002t0006g0006	1	272	0.0037	18	c.278 others(37): Show c.278-19548_278-19547insGGGGGGGGGGGGGGGGGT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	4/6			chr2	TogoVar
ACYP2_chr2_53966113_54310300	54201594	C C	CTTTCTTT others(11): Show CTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0205 a0001c0001t0004g0205	1	272	0.0037	18	c.404 others(37): Show c.404+62847_404+62848insTTCTTTCTTTCTTTCTTT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54201610	T T	TTCTTTCT others(11): Show TTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	272	0.0037	18	c.404 others(37): Show c.404+62875_404+62876insCTTTCTCTTTCTTTCTTT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54201614	T T	TTCTTTCT others(11): Show TTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA19003.hp2 HG02027.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0229 a0001c0001t0001g0180 a0001c0001t0001g0229	2	272	0.0074	18	c.404 others(37): Show c.404+62875_404+62876insCTTTCTTTCTCTTTCTTT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54201642	C C	CTTTCTTT others(11): Show CTTTCTTTCTTTGTTTCTT	intron_variant intron_variant	MODIFIER	HG01168.hp2 NA18940.hp2 NA19066.hp2 HG01168.hp2 NA18940.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0005 a0001c0001t0001 a0001c0001t0004 a0001c0002t0005	a0001c0001t0001g0241 a0001c0001t0004g0222 a0001c0002t0005g0017 a0001c0001t0001g0241 a0001c0001t0004g0222 a0001c0002t0005g0017	3	272	0.0110	18	c.404 others(37): Show c.404+62905_404+62906insGTTTCTTTTTCTTTCTTT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54201682	C C	CTTTCTTT others(11): Show CTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	272	0.0037	18	c.404 others(37): Show c.404+62935_404+62936insTTCTTTCTTTCTTTCTTT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54207173	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG01071.hp2 others(17): Show HG00408.hp2 HG00558.hp1 HG01071.hp2 HG01175.hp1 HG01257.hp1 HG01358.hp1 HG02004.hp1 HG02165.hp2 HG02293.hp2 HG02615.hp2 HG02735.hp2 HG03486.hp1 NA18962.hp2 NA18981.hp1 NA18992.hp1 NA19003.hp1 NA19056.hp1 NA19070.hp2 NA19077.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0002t0005 a0001c0002t0009	a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0128 others(17): Show a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0128 a0001c0001t0001g0190 a0001c0001t0001g0199 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0245 a0001c0001t0004g0121 a0001c0001t0004g0154 a0001c0001t0004g0195 a0001c0001t0004g0225 a0001c0002t0002g0018 a0001c0002t0002g0020 a0001c0002t0002g0057 a0001c0002t0002g0059 a0001c0002t0002g0095 a0001c0002t0005g0039 a0001c0002t0005g0068 a0001c0002t0009g0086	20	272	0.0735	18	c.404 others(37): Show c.404+68441_404+68458dupGTGTGTGTGTGTGTGTGT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54219881	G G	GTGTGTAT others(11): Show GTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	272	0.0037	18	c.404 others(37): Show c.404+81134_404+81135insGTGTATATATATATATAT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54276620	C C	CACACACA others(11): Show CACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0084 a0001c0002t0009g0084	1	272	0.0037	18	c.405 others(37): Show c.405-28051_405-28050insAACACACACACACACACA	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ADA2_chr22_17173790_17224435	17184983	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01516.hp1 HG02922.hp2 others(4): Show HG00323.hp2 HG01516.hp1 HG02922.hp2 NA18612.hp2 NA18959.hp2 NA18983.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0006 others(1): Show a0001c0001 a0001c0003 a0002c0006 a0002c0007	a0001c0001t0005 a0001c0003t0003 a0002c0006t0003 others(2): Show a0001c0001t0005 a0001c0003t0003 a0002c0006t0003 a0002c0006t0008 a0002c0007t0003	a0001c0001t0005g0101 a0001c0001t0005g0114 a0001c0003t0003g0105 others(4): Show a0001c0001t0005g0101 a0001c0001t0005g0114 a0001c0003t0003g0105 a0002c0006t0003g0106 a0002c0006t0008g0369 a0002c0007t0003g0082 a0002c0007t0003g0099	7	408	0.0172	18	c.108 others(37): Show c.1082-2240_1082-2223dupATATATATATATATATAT	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	7/9			chr22	TogoVar
ADAD1_chr4_122374011_122434784	122378285	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	376	0.0027	18	c.-91 others(27): Show c.-913_-912insAAAAAAAAAAAAAAAAAA	ADAD1	ENSG00000164113.11	transcript	ENST00000296513.7	protein_coding		725		chr4	TogoVar
ADAD1_chr4_122374011_122434784	122413851	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0289	1	376	0.0027	18	c.124 others(37): Show c.1249+1051_1249+1068dupATATATATATATATATAT	ADAD1	ENSG00000164113.11	transcript	ENST00000296513.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
ADAD2_chr16_84186157_84202166	84197184	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02809.hp1 HG03688.hp1 others(3): Show HG02145.hp2 HG02809.hp1 HG03688.hp1 HG03688.hp2 HG04204.hp2 NA18981.hp2	a0001 a0003 a0018 a0001 a0003 a0018	a0001c0007 a0003c0001 a0018c0026 a0001c0007 a0003c0001 a0018c0026	a0001c0007t0001 a0003c0001t0001 a0018c0026t0001 a0001c0007t0001 a0003c0001t0001 a0018c0026t0001	a0001c0007t0001g0007 a0003c0001t0001g0003 a0003c0001t0001g0004 others(1): Show a0001c0007t0001g0007 a0003c0001t0001g0003 a0003c0001t0001g0004 a0018c0026t0001g0003	6	470	0.0128	18	c.21 others(27): Show c.210_*211insTGTGTGTGTGTGTGTGTG	ADAD2	ENSG00000140955.11	transcript	ENST00000315906.10	protein_coding		19		chr16	TogoVar
ADAL_chr15_43325672_43359569	43334633	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01515.hp2 HG01517.hp1 others(12): Show HG00280.hp1 HG01515.hp2 HG01517.hp1 HG02083.hp2 HG02135.hp1 HG02280.hp2 HG02818.hp1 HG03209.hp2 HG03669.hp2 HG03831.hp1 NA18979.hp2 NA18997.hp2 NA19057.hp1 NA19064.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0004 a0001c0002t0001 a0001c0002t0003 others(2): Show a0001c0001t0004 a0001c0002t0001 a0001c0002t0003 a0001c0002t0008 a0001c0006t0004	a0001c0001t0004g0123 a0001c0002t0001g0011 a0001c0002t0001g0117 others(8): Show a0001c0001t0004g0123 a0001c0002t0001g0011 a0001c0002t0001g0117 a0001c0002t0001g0119 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0003g0116 a0001c0002t0003g0118 a0001c0002t0003g0120 a0001c0002t0008g0115 a0001c0006t0004g0124	15	386	0.0389	18	c.-16 others(35): Show c.-163-298_-163-281dupATATATATATATATATAT	ADAL	ENSG00000168803.16	transcript	ENST00000562188.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
ADAL_chr15_43325672_43359569	43357270	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG01516.hp2 others(3): Show HG00099.hp1 HG00280.hp1 HG01516.hp2 HG01517.hp2 HG02280.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0004 a0001c0006t0004 a0001c0001t0004 a0001c0006t0004	a0001c0001t0004g0025 a0001c0001t0004g0082 a0001c0001t0004g0123 others(2): Show a0001c0001t0004g0025 a0001c0001t0004g0082 a0001c0001t0004g0123 a0001c0006t0004g0112 a0001c0006t0004g0124	6	386	0.0155	18	c.53 others(29): Show c.5325_*5326insTTTTTTTTTTTTTTTTTT	ADAL	ENSG00000168803.16	transcript	ENST00000562188.7	protein_coding		2702		chr15	TogoVar
ADAM10_chr15_58583809_58754707	58586912	A A	AGAGTGTG others(11): Show AGAGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 NA18968.hp2 HG00558.hp1 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0158 a0001c0001t0001g0100 a0001c0001t0001g0158	2	342	0.0059	18	c.10 others(31): Show c.10634_*10635insACACACACACACACACTC	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding		1896		chr15	TogoVar
ADAM10_chr15_58583809_58754707	58588633	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0323 a0001c0001t0062g0323	1	342	0.0029	18	c.89 others(29): Show c.8913_*8914insTTTTTTTTTTTTTTTTTT	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding		175		chr15	TogoVar
ADAM10_chr15_58583809_58754707	58593149	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0100 a0001c0001t0100	a0001c0001t0100g0070 a0001c0001t0100g0070	1	342	0.0029	18	c.43 others(29): Show c.4380_*4397dupAAAAAAAAAAAAAAAAAA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	16/16	4397		chr15	TogoVar
ADAM10_chr15_58583809_58754707	58647246	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	342	0.0029	18	c.586 others(35): Show c.586-1043_586-1042insAAAAAAAAAAAAAAAAAA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	5/15			chr15	TogoVar
ADAM10_chr15_58583809_58754707	58647248	A A	ATTTCTTT others(11): Show ATTTCTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18947.hp1 NA18955.hp1 others(6): Show HG02083.hp2 NA18947.hp1 NA18955.hp1 NA18975.hp2 NA18995.hp2 NA19000.hp2 NA19058.hp2 NA19068.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0013 a0001c0001t0019 others(2): Show a0001c0001t0007 a0001c0001t0013 a0001c0001t0019 a0001c0001t0020 a0001c0001t0080	a0001c0001t0007g0303 a0001c0001t0007g0311 a0001c0001t0007g0315 others(6): Show a0001c0001t0007g0303 a0001c0001t0007g0311 a0001c0001t0007g0315 a0001c0001t0007g0322 a0001c0001t0013g0307 a0001c0001t0019g0309 a0001c0001t0019g0310 a0001c0001t0020g0316 a0001c0001t0080g0321	9	342	0.0263	18	c.586 others(35): Show c.586-1045_586-1044insAAAAAAAAAAAAAAGAAA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	5/15			chr15	TogoVar
ADAM10_chr15_58583809_58754707	58647248	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp1 HG00438.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0100 a0001c0001t0010 a0001c0001t0100	a0001c0001t0010g0059 a0001c0001t0100g0070 a0001c0001t0010g0059 a0001c0001t0100g0070	2	342	0.0059	18	c.586 others(35): Show c.586-1062_586-1045dupAAAAAAAAAAAAAAAAAA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	5/15			chr15	TogoVar
ADAM10_chr15_58583809_58754707	58655674	A A	ATATATAT others(11): Show ATATATATACTATATATAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG02735.hp2 others(3): Show HG00438.hp2 HG00544.hp2 HG02735.hp2 HG02886.hp1 HG03041.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0101 a0001c0001t0001 a0001c0001t0002 a0001c0001t0101	a0001c0001t0001g0157 a0001c0001t0001g0167 a0001c0001t0001g0183 others(3): Show a0001c0001t0001g0157 a0001c0001t0001g0167 a0001c0001t0001g0183 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0101g0131	6	342	0.0175	18	c.585 others(35): Show c.585+9422_585+9423insCTATATATAGTATATATA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	5/15			chr15	TogoVar
ADAM10_chr15_58583809_58754707	58688766	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02630.hp2 NA18522.hp2 others(4): Show HG02083.hp2 HG02630.hp2 NA18522.hp2 NA18955.hp1 NA18990.hp2 NA19084.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0013 a0001c0001t0020 others(3): Show a0001c0001t0007 a0001c0001t0013 a0001c0001t0020 a0001c0001t0021 a0001c0001t0026 a0001c0001t0058	a0001c0001t0007g0308 a0001c0001t0007g0315 a0001c0001t0013g0314 others(4): Show a0001c0001t0007g0308 a0001c0001t0007g0315 a0001c0001t0013g0314 a0001c0001t0020g0316 a0001c0001t0021g0328 a0001c0001t0026g0301 a0001c0001t0058g0295	7	342	0.0205	18	c.207 others(35): Show c.207-6470_207-6453dupTATATATATATATATATA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	2/15			chr15	TogoVar
ADAM10_chr15_58583809_58754707	58688786	A A	ATATATAT others(11): Show ATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG01515.hp1 NA18984.hp1 NA21309.hp2 HG01515.hp1 NA18984.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0049 a0001c0001t0074 a0001c0001t0032 a0001c0001t0049 a0001c0001t0074	a0001c0001t0032g0291 a0001c0001t0049g0190 a0001c0001t0074g0196 a0001c0001t0032g0291 a0001c0001t0049g0190 a0001c0001t0074g0196	3	342	0.0088	18	c.207 others(35): Show c.207-6473_207-6472insGATATATATATATATATA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	2/15			chr15	TogoVar
ADAM10_chr15_58583809_58754707	58688786	A A	ATATATAT others(11): Show ATATATATATATATATCTC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02055.hp1 HG03017.hp1 HG01175.hp1 HG02055.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0075 a0001c0001t0004 a0001c0001t0075	a0001c0001t0004g0197 a0001c0001t0004g0198 a0001c0001t0075g0199 a0001c0001t0004g0197 a0001c0001t0004g0198 a0001c0001t0075g0199	3	342	0.0088	18	c.207 others(35): Show c.207-6473_207-6472insGAGATATATATATATATA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	2/15			chr15	TogoVar
ADAM10_chr15_58583809_58754707	58688786	A A	ATATATAT others(11): Show ATATATATATATATCTCTC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0284 a0001c0001t0025g0284	1	342	0.0029	18	c.207 others(35): Show c.207-6473_207-6472insGAGAGATATATATATATA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	2/15			chr15	TogoVar
ADAM10_chr15_58583809_58754707	58688786	A A	ATATATAT others(11): Show ATATATATATATCTCTCTC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02615.hp2 HG02717.hp1 others(2): Show HG01891.hp1 HG02615.hp2 HG02717.hp1 HG02886.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0050 a0001c0001t0051 others(1): Show a0001c0001t0016 a0001c0001t0050 a0001c0001t0051 a0001c0001t0053	a0001c0001t0016g0283 a0001c0001t0016g0335 a0001c0001t0050g0337 others(2): Show a0001c0001t0016g0283 a0001c0001t0016g0335 a0001c0001t0050g0337 a0001c0001t0051g0289 a0001c0001t0053g0286	5	342	0.0146	18	c.207 others(35): Show c.207-6473_207-6472insGAGAGAGATATATATATA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	2/15			chr15	TogoVar
ADAM10_chr15_58583809_58754707	58688786	A A	ATATATAT others(11): Show ATATATATATCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03540.hp1 HG02818.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0338 a0001c0001t0015g0339 a0001c0001t0015g0338 a0001c0001t0015g0339	2	342	0.0059	18	c.207 others(35): Show c.207-6473_207-6472insGAGAGAGAGATATATATA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	2/15			chr15	TogoVar
ADAM11_chr17_44753988_44786846	44771990	G G	GCCCCAGC others(11): Show GCCCCAGCTCCCCCTGTGC	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0039 a0001c0003t0020g0039	1	336	0.0030	18	c.543 others(33): Show c.543+170_543+187dupCCCTGTGCCCCCAGCTCC	ADAM11	ENSG00000073670.14	transcript	ENST00000200557.11	protein_coding	6/26		INFO_REALIGN_3_PRIME	chr17	TogoVar
ADAM11_chr17_44753988_44786846	44778713	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA20300.hp2 NA19062.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0007 a0001c0002t0003 a0001c0002t0007	a0001c0002t0003g0186 a0001c0002t0007g0192 a0001c0002t0003g0186 a0001c0002t0007g0192	2	336	0.0060	18	c.227 others(35): Show c.2276+471_2276+472insAAAAAAAAAAAAAAAAAG	ADAM11	ENSG00000073670.14	transcript	ENST00000200557.11	protein_coding	25/26			chr17	TogoVar
ADAM12_chr10_126007391_126393477	126086674	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02717.hp2 HG04228.hp1 others(1): Show HG02698.hp2 HG02717.hp2 HG04228.hp1 NA18747.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0009 others(1): Show a0001c0003 a0001c0004 a0001c0009 a0001c0012	a0001c0003t0046 a0001c0004t0002 a0001c0009t0015 others(1): Show a0001c0003t0046 a0001c0004t0002 a0001c0009t0015 a0001c0012t0014	a0001c0003t0046g0046 a0001c0004t0002g0161 a0001c0009t0015g0237 others(1): Show a0001c0003t0046g0046 a0001c0004t0002g0161 a0001c0009t0015g0237 a0001c0012t0014g0079	4	252	0.0159	18	c.114 others(37): Show c.1145+7310_1145+7311insATATATATATATATATAT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126086680	A A	AAAAAAAA others(11): Show AAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0036 a0002c0005t0036	a0002c0005t0036g0246 a0002c0005t0036g0246	1	252	0.0040	18	c.114 others(37): Show c.1145+7304_1145+7305insATATATATATATTTTTTT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar

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