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
ASAP1_chr8_130047104_130448674	130050158	G G	GGGGGGCA others(13): Show GGGGGGCAGAGGAGAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02257.hp1 NA18522.hp2 others(1): Show HG01891.hp2 HG02257.hp1 NA18522.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0018g0290 others(1): Show a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0018g0290 a0001c0001t0018g0294	4	308	0.0130	20	c.45 others(31): Show c.4572_*4573insATGTGTTCTCCTCTGCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		1945		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050220	G G	GGGGGGCA others(13): Show GGGGGGCAGAGGAGAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0177 a0001c0001t0002g0177	1	308	0.0033	20	c.45 others(31): Show c.4510_*4511insATGTGTTCTCCTCTGCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		1883		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050276	C C	CACATGGG others(13): Show CACATGGGGGCAGAGGGGAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	308	0.0033	20	c.44 others(31): Show c.4454_*4455insATTCCCCTCTGCCCCCATGT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		1827		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050281	G G	GGGGGGCA others(13): Show GGGGGGCAGAGGAGAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG03017.hp1 HG03453.hp2 others(1): Show HG02293.hp2 HG03017.hp1 HG03453.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0007t0001	a0001c0001t0001g0163 a0001c0001t0002g0150 a0001c0001t0013g0302 others(1): Show a0001c0001t0001g0163 a0001c0001t0002g0150 a0001c0001t0013g0302 a0001c0007t0001g0037	4	308	0.0130	20	c.44 others(31): Show c.4449_*4450insATGTGTTCTCCTCTGCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		1822		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050293	A A	AGAACACA others(13): Show AGAACACATGGGGGCAGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 NA18944.hp2 HG02071.hp1 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0173 a0001c0001t0002g0210 a0001c0001t0002g0173 a0001c0001t0002g0210	2	308	0.0065	20	c.44 others(31): Show c.4437_*4438insCCCTCTGCCCCCATGTGTTC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		1810		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072791	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0294 a0001c0001t0018g0294	1	308	0.0033	20	c.270 others(39): Show c.2701+3556_2701+3557insCACACACACACACACACACA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072793	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0014 a0002c0002t0001g0014	1	308	0.0033	20	c.270 others(39): Show c.2701+3535_2701+3554dupCACACACACACACACACACA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGCG others(13): Show TGTGTGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	308	0.0033	20	c.270 others(39): Show c.2701+3523_2701+3524insGCGCGCGCGCGCGCGCACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(13): Show TGTGTGTGTGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	308	0.0033	20	c.270 others(39): Show c.2701+3523_2701+3524insGCGCGCGCGCGCACACACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	308	0.0033	20	c.270 others(39): Show c.2701+3523_2701+3524insGCGCACACACACACACACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03195.hp1 NA20300.hp2 HG02572.hp1 HG03195.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0158 a0001c0001t0001g0261 a0001c0001t0001g0012 a0001c0001t0001g0158 a0001c0001t0001g0261	3	308	0.0097	20	c.270 others(39): Show c.2701+3523_2701+3524insGCACACACACACACACACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072825	G G	GCGTGTGC others(13): Show GCGTGTGCGCGCGCGCGCGCA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0118 a0002c0002t0003g0118	1	308	0.0033	20	c.270 others(39): Show c.2701+3522_2701+3523insTGCGCGCGCGCGCGCACACG	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130093686	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02970.hp1 NA21309.hp2 HG01074.hp2 HG02970.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0005 a0001c0001t0001 a0001c0006t0005	a0001c0001t0001g0016 a0001c0006t0005g0292 a0001c0006t0005g0293 a0001c0001t0001g0016 a0001c0006t0005g0292 a0001c0006t0005g0293	3	308	0.0097	20	c.240 others(39): Show c.2402-1544_2402-1543insCTTTTTTTTTTTTTTTTTTT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	24/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130101732	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	308	0.0033	20	c.240 others(39): Show c.2402-9609_2402-9590dupAAAAAAAAAAAAAAAAAAAA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	24/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130153332	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0293 a0001c0006t0005g0293	1	308	0.0033	20	c.101 others(37): Show c.1011-547_1011-528dupATATATATATATATATATAT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	12/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130153343	A A	ATATATAT others(13): Show ATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0004 a0001c0001t0007g0004	1	308	0.0033	20	c.101 others(37): Show c.1011-539_1011-538insCATATATATATATATATATA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	12/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130215975	A A	AAAAGGAA others(13): Show AAAAGGAAAGGAAAGGAAAGG	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA18522.hp1 NA19043.hp2 HG03579.hp1 NA18522.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0013g0302 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0013g0302	3	308	0.0097	20	c.260 others(37): Show c.260-1294_260-1275dupCCTTTCCTTTCCTTTCCTTT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	4/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130217537	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA18952.hp2 NA18975.hp2 others(3): Show HG02071.hp2 NA18952.hp2 NA18975.hp2 NA19065.hp2 NA19080.hp2 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0015 a0002c0002t0016 a0002c0002t0003 a0002c0002t0015 a0002c0002t0016	a0002c0002t0003g0109 a0002c0002t0003g0110 a0002c0002t0003g0125 others(3): Show a0002c0002t0003g0109 a0002c0002t0003g0110 a0002c0002t0003g0125 a0002c0002t0003g0248 a0002c0002t0015g0239 a0002c0002t0016g0133	6	308	0.0195	20	c.260 others(37): Show c.260-2856_260-2837dupGTGTGTGTGTGTGTGTGTGT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	4/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130234712	A A	ACGGTAAA others(13): Show ACGGTAAATACAGCAGCACCT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01167.hp2 HG02055.hp2 others(5): Show HG01074.hp2 HG01167.hp2 HG02055.hp2 HG02886.hp2 HG02970.hp1 HG03130.hp1 HG03540.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 a0001c0001 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0005t0001 a0001c0005t0005 others(2): Show a0001c0001t0001 a0001c0005t0001 a0001c0005t0005 a0001c0005t0007 a0001c0006t0005	a0001c0001t0001g0016 a0001c0005t0001g0166 a0001c0005t0005g0285 others(5): Show a0001c0001t0001g0016 a0001c0005t0001g0166 a0001c0005t0005g0285 a0001c0005t0007g0002 a0001c0005t0007g0003 a0001c0006t0005g0288 a0001c0006t0005g0292 a0001c0006t0005g0293	8	308	0.0260	20	c.259 others(37): Show c.259+2190_259+2209dupAGGTGCTGCTGTATTTACCG	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	4/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130256757	A A	ATATATAT others(13): Show ATATATATATATATATATCCT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0133 a0002c0002t0016g0133	1	308	0.0033	20	c.187 others(39): Show c.187-19764_187-19763insAGGATATATATATATATATA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130276728	A A	ACACACAC others(13): Show ACACACACACTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG03239.hp2 NA19001.hp2 HG02071.hp2 HG03239.hp2 NA19001.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0015 a0002c0002t0003 a0002c0002t0015	a0002c0002t0003g0121 a0002c0002t0003g0139 a0002c0002t0015g0239 a0002c0002t0003g0121 a0002c0002t0003g0139 a0002c0002t0015g0239	3	308	0.0097	20	c.187 others(39): Show c.187-39735_187-39734insAGAGAGAGAGAGTGTGTGTG	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130276728	A A	ACACACAC others(13): Show ACACACACTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0284 a0002c0002t0003g0284	1	308	0.0033	20	c.187 others(39): Show c.187-39735_187-39734insAGAGAGAGAGAGAGTGTGTG	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130276728	A A	ACACACTC others(13): Show ACACACTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02300.hp1 NA18982.hp1 HG02300.hp1 NA18982.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0257 a0002c0002t0003g0273 a0002c0002t0003g0257 a0002c0002t0003g0273	2	308	0.0065	20	c.187 others(39): Show c.187-39735_187-39734insAGAGAGAGAGAGAGAGTGTG	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130283583	G G	GAAAAAAA others(13): Show GAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0232 a0001c0009t0001g0232	1	308	0.0033	20	c.187 others(39): Show c.187-46590_187-46589insTTTTTTTTTTTTTTTTTTTT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130300153	C C	CACACACA others(13): Show CACACACAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0082 a0002c0002t0003g0082	1	308	0.0033	20	c.186 others(39): Show c.186+57863_186+57864insCTCTCTCTCTCTCTGTGTGT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130300153	C C	CACACAGA others(13): Show CACACAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0020	a0002c0002t0020g0300 a0002c0002t0020g0300	1	308	0.0033	20	c.186 others(39): Show c.186+57863_186+57864insCTCTCTCTCTCTCTCTGTGT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130366886	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0263 a0001c0001t0021g0263	1	308	0.0033	20	c.60- others(35): Show c.60-8763_60-8744dupAAAAAAAAAAAAAAAAAAAA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	2/29			chr8	TogoVar
ASAP2_chr2_9201812_9410678	9254236	A A	AAAAAAAA others(13): Show AAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0093 a0002c0001t0001g0093	1	210	0.0048	20	c.127 others(39): Show c.127-25080_127-25079insAAAAAATATATATATATATA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9301820	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0062 a0001c0002t0003g0062	1	210	0.0048	20	c.345 others(37): Show c.345+4377_345+4396dupTTTTTTTTTTTTTTTTTTTT	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9317117	A A	ATCACATC others(13): Show ATCACATCCACATTCACACAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02486.hp2 HG02922.hp1 others(2): Show HG02145.hp1 HG02486.hp2 HG02922.hp1 HG03139.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0007 a0001c0010 a0001c0003 a0001c0007 a0001c0010	a0001c0003t0016 a0001c0007t0004 a0001c0010t0018 a0001c0003t0016 a0001c0007t0004 a0001c0010t0018	a0001c0003t0016g0174 a0001c0007t0004g0015 a0001c0007t0004g0154 others(2): Show a0001c0003t0016g0174 a0001c0007t0004g0015 a0001c0007t0004g0154 a0001c0007t0004g0203 a0001c0010t0018g0173	5	210	0.0238	20	c.346 others(37): Show c.346-1402_346-1401insTCCACATTCACACACTCACA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP3_chr1_23423563_23489179	23473974	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	346	0.0029	20	c.129 others(39): Show c.129+10011_129+10030dupAAAAAAAAAAAAAAAAAAAA	ASAP3	ENSG00000088280.21	transcript	ENST00000336689.8	protein_coding	1/24			chr1	TogoVar
ASB11_chrX_15276697_15320640	15278635	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG02293.hp2 HG00735.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0155 a0001c0001t0002g0005 a0001c0001t0002g0155	2	306	0.0065	20	c.48 others(31): Show c.4869_*4870insTTTTTTTTTTTTTTTTTTTT	ASB11	ENSG00000165192.14	transcript	ENST00000480796.6	protein_coding		3061		chrX	TogoVar
ASB11_chrX_15276697_15320640	15286663	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0012 a0001c0001t0008g0012	2	306	0.0065	20	c.847 others(37): Show c.847+1198_847+1217dupTTTTTTTTTTTTTTTTTTTT	ASB11	ENSG00000165192.14	transcript	ENST00000480796.6	protein_coding	6/6			chrX	TogoVar
ASB11_chrX_15276697_15320640	15305597	T T	TTAGATAG others(13): Show TTAGATAGATAGATAGATAGA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	306	0.0033	20	c.182 others(37): Show c.182-2810_182-2791dupTCTATCTATCTATCTATCTA	ASB11	ENSG00000165192.14	transcript	ENST00000480796.6	protein_coding	1/6			chrX	TogoVar
ASB13_chr10_5633867_5671595	5662565	G G	GGAGAAGA others(13): Show GGAGAAGAGAAGAGAAGAGAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01167.hp1 HG01255.hp1 others(7): Show HG00609.hp2 HG01167.hp1 HG01255.hp1 HG01515.hp2 HG02074.hp1 HG03704.hp2 NA18939.hp1 NA18951.hp1 NA19012.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0039	a0001c0001t0001g0240 a0001c0001t0001g0361 a0001c0001t0002g0239 others(7): Show a0001c0001t0001g0240 a0001c0001t0001g0361 a0001c0001t0002g0239 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0003g0347 a0001c0001t0004g0243 a0001c0001t0006g0348 a0001c0001t0007g0151 a0001c0001t0039g0109	10	446	0.0224	20	c.43+ others(35): Show c.43+3924_43+3943dupTTCTCTTCTCTTCTCTTCTC	ASB13	ENSG00000196372.13	transcript	ENST00000357700.11	protein_coding	1/5			chr10	TogoVar
ASB13_chr10_5633867_5671595	5662565	G G	GGAGAGGA others(13): Show GGAGAGGAGAAGAGAAGAGAA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0360 a0001c0001t0028g0360	1	446	0.0022	20	c.43+ others(35): Show c.43+3943_43+3944insTTCTCTTCTCTTCTCCTCTC	ASB13	ENSG00000196372.13	transcript	ENST00000357700.11	protein_coding	1/5			chr10	TogoVar
ASB13_chr10_5633867_5671595	5662565	G G	GGAGGGGA others(13): Show GGAGGGGAGAACAGAAGAGAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0382 a0001c0001t0004g0382	1	446	0.0022	20	c.43+ others(35): Show c.43+3943_43+3944insTTCTCTTCTGTTCTCCCCTC	ASB13	ENSG00000196372.13	transcript	ENST00000357700.11	protein_coding	1/5			chr10	TogoVar
ASB14_chr3_57263342_57297685	57284094	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00639.hp2 HG01109.hp2 others(31): Show HG00609.hp1 HG00639.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01256.hp1 HG01361.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG02293.hp2 HG02698.hp2 HG02896.hp2 HG02897.hp2 HG03017.hp1 HG04184.hp2 HG04199.hp2 HG06807.hp1 NA18942.hp1 NA18944.hp2 NA18947.hp2 NA18950.hp1 NA18951.hp2 NA18960.hp2 NA18962.hp1 NA18986.hp1 NA18989.hp1 NA18992.hp2 NA19005.hp1 NA19090.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0012 a0001c0001 a0003c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0003c0012t0001	a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0029 others(25): Show a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0029 a0001c0001t0001g0054 a0001c0001t0001g0070 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0178 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0196 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0003g0248 a0001c0001t0006g0149 a0001c0001t0010g0179 a0003c0012t0001g0158	34	336	0.1012	20	c.470 others(35): Show c.470-675_470-656dupCACACACACACACACACACA	ASB14	ENSG00000239388.10	transcript	ENST00000487349.6	protein_coding	5/10			chr3	TogoVar
ASB15_chr7_123596821_123644481	123637878	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00609.hp1 HG00642.hp1 HG00642.hp2 others(27): Show HG00609.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG01346.hp1 HG01517.hp2 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02486.hp2 HG02615.hp2 HG02630.hp1 HG02897.hp2 HG03225.hp2 HG03453.hp2 HG03669.hp2 HG03688.hp2 HG03942.hp2 HG04115.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18950.hp2 NA18964.hp2 NA18974.hp2 NA18983.hp2 NA19065.hp2 NA19072.hp1 NA20129.hp2 NA20805.hp2	a0001 a0005 a0006 others(2): Show a0001 a0005 a0006 a0007 a0009	a0001c0001 a0005c0007 a0006c0008 others(2): Show a0001c0001 a0005c0007 a0006c0008 a0007c0010 a0009c0013	a0001c0001t0004 a0001c0001t0036 a0005c0007t0004 others(3): Show a0001c0001t0004 a0001c0001t0036 a0005c0007t0004 a0006c0008t0004 a0007c0010t0023 a0009c0013t0004	a0001c0001t0004g0009 a0001c0001t0004g0012 a0001c0001t0004g0044 others(26): Show a0001c0001t0004g0009 a0001c0001t0004g0012 a0001c0001t0004g0044 a0001c0001t0004g0088 a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0004g0102 a0001c0001t0004g0132 a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0157 a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0004g0162 a0001c0001t0004g0241 a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0004g0275 a0001c0001t0004g0289 a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0001t0004g0348 a0001c0001t0036g0272 a0005c0007t0004g0323 a0006c0008t0004g0298 a0006c0008t0004g0299 a0006c0008t0004g0302 a0007c0010t0023g0125 a0009c0013t0004g0164	30	380	0.0790	20	c.90 others(29): Show c.900_*919dupAAAAAAAAAAAAAAAAAAAA	ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	12/12	920	INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB17_chr1_75913873_75937404	75920758	G G	GCTTTTCT others(13): Show GCTTTTCTTTTCTTTTCTTTT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	412	0.0024	20	c.681 others(37): Show c.681+1302_681+1321dupAAAAGAAAAGAAAAGAAAAG	ASB17	ENSG00000154007.7	transcript	ENST00000284142.7	protein_coding	2/2			chr1	TogoVar
ASB4_chr7_95480943_95545233	95485026	A A	ATGTATAT others(13): Show ATGTATATATGTATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02818.hp1 HG03130.hp1 others(2): Show HG02630.hp1 HG02818.hp1 HG03130.hp1 HG03453.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012	a0001c0001t0003g0376 a0001c0001t0003g0377 a0001c0001t0004g0375 others(2): Show a0001c0001t0003g0376 a0001c0001t0003g0377 a0001c0001t0004g0375 a0001c0001t0012g0378 a0001c0001t0012g0379	5	388	0.0129	20	c.-94 others(29): Show c.-946_-945insTGTATATATGTATATATATG	ASB4	ENSG00000005981.13	transcript	ENST00000325885.6	protein_coding		916		chr7	TogoVar
ASB4_chr7_95480943_95545233	95515222	T T	TTTCTTTC others(13): Show TTTCTTTCTTTCTTTCTTCTC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0255 a0001c0001t0007g0255	1	388	0.0026	20	c.488 others(39): Show c.488-12581_488-12580insCTTTCTTCTCTTCTTTCTTT	ASB4	ENSG00000005981.13	transcript	ENST00000325885.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB4_chr7_95480943_95545233	95515316	T T	TCTTTCTT others(13): Show TCTTTCTTTCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA19075.hp2 HG02015.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0231 a0001c0001t0001g0224 a0001c0001t0001g0231	2	388	0.0052	20	c.488 others(39): Show c.488-12494_488-12493insTCTTTCTTCCTTCCTTCCTT	ASB4	ENSG00000005981.13	transcript	ENST00000325885.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB4_chr7_95480943_95545233	95515316	T T	TCTTTCTT others(13): Show TCTTTCTTTCTTTCTTTCTTC	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0151 a0001c0001t0002g0151	1	388	0.0026	20	c.488 others(39): Show c.488-12494_488-12493insTCTTTCTTTCTTTCTTCCTT	ASB4	ENSG00000005981.13	transcript	ENST00000325885.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB5_chr4_176208673_176274222	176219575	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02683.hp1 HG00642.hp2 HG02683.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0002 a0001c0002t0002 a0001c0003t0002	a0001c0002t0002g0348 a0001c0003t0002g0342 a0001c0002t0002g0348 a0001c0003t0002g0342	2	410	0.0049	20	c.670 others(37): Show c.670+1560_670+1579dupATATATATATATATATATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASB7_chr15_100597589_100656701	100611484	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp2 HG00621.hp2 others(35): Show HG00438.hp2 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG01069.hp2 HG01257.hp1 HG01261.hp1 HG01517.hp1 HG01928.hp1 HG01993.hp1 HG02132.hp1 HG02155.hp2 HG02293.hp1 HG02622.hp1 HG02886.hp2 HG03041.hp1 HG03516.hp2 HG06807.hp2 NA18906.hp2 NA18942.hp1 NA18946.hp2 NA18947.hp2 NA18949.hp2 NA18953.hp2 NA18954.hp2 NA18956.hp2 NA18971.hp2 NA18977.hp2 NA18991.hp1 NA18992.hp1 NA18999.hp1 NA19002.hp2 NA19004.hp1 NA19056.hp2 NA19074.hp1 NA19077.hp2 NA19085.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0021	a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0016 others(31): Show a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0092 a0001c0001t0001g0149 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0222 a0001c0001t0001g0231 a0001c0001t0001g0269 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0002g0143 a0001c0001t0002g0169 a0001c0001t0002g0187 a0001c0001t0002g0191 a0001c0001t0002g0280 a0001c0001t0003g0015 a0001c0001t0003g0097 a0001c0001t0006g0061 a0001c0001t0007g0077 a0001c0001t0021g0190	38	368	0.1033	20	c.-51 others(35): Show c.-51-669_-51-668insTTTTTTTTTTTTTTTTTTTT	ASB7	ENSG00000183475.13	transcript	ENST00000332783.12	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
ASB9_chrX_15238987_15275083	15267427	T T	TTAAAAAA others(13): Show TTAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02615.hp1 HG03453.hp2 HG01891.hp2 HG02615.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0048 a0001c0001t0006g0049 a0001c0001t0006g0050 a0001c0001t0006g0048 a0001c0001t0006g0049 a0001c0001t0006g0050	3	336	0.0089	20	c.94+ others(35): Show c.94+2353_94+2354insTTTTTTTTTTTTTTTTTTTA	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6			chrX	TogoVar
ASCC1_chr10_72091032_72221276	72197906	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0001 a0003c0003t0002g0001	1	216	0.0046	20	c.311 others(35): Show c.311-937_311-918dupATTTATTTATTTATTTATTT	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ASCC1_chr10_72091032_72221276	72218145	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 NA19030.hp1 HG00609.hp2 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0006 a0002c0002t0001 a0002c0002t0006	a0002c0002t0001g0181 a0002c0002t0006g0174 a0002c0002t0001g0181 a0002c0002t0006g0174	2	216	0.0093	20	c.-19 others(31): Show c.-1992_-1973dupTTTTTTTTTTTTTTTTTTTT	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding		1870		chr10	TogoVar
ASCC2_chr22_29783611_29843274	29827899	G G	GACACACA others(13): Show GACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0286 a0001c0001t0011g0286	1	372	0.0027	20	c.82- others(35): Show c.82-2139_82-2120dupGTGTGTGTGTGTGTGTGTGT	ASCC2	ENSG00000100325.15	transcript	ENST00000307790.8	protein_coding	2/19			chr22	TogoVar

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