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
AMFR_chr16_56356452_56430545	56425420	T T	TCGCTGCC others(17): Show TCGCTGCCGCTGCCGCTGCCGCTGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18951.hp2 NA18956.hp2 NA18978.hp2 others(5): Show NA18951.hp2 NA18956.hp2 NA18978.hp2 NA18980.hp2 NA18991.hp1 NA18999.hp1 NA19004.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0330 a0001c0001t0013g0331 a0001c0001t0013g0332 others(5): Show a0001c0001t0013g0330 a0001c0001t0013g0331 a0001c0001t0013g0332 a0001c0001t0013g0333 a0001c0001t0013g0334 a0001c0001t0013g0335 a0001c0001t0013g0336 a0001c0001t0013g0337	8	356	0.0225	24	c.-94 others(31): Show c.-94_-93insGCAGCGGCAGCGGCAGCGGCAGCG	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	1/14	94		chr16	TogoVar
AMIGO1_chr1_109499178_109514727	109503476	T T	TCATATAT others(17): Show TCATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG03688.hp2 HG03927.hp2 others(4): Show HG02135.hp2 HG03688.hp2 HG03927.hp2 NA18964.hp2 NA18985.hp2 NA19000.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	7	400	0.0175	24	c.39 others(35): Show c.3954_*3955insTATATATATATATATATATATATG	AMIGO1	ENSG00000181754.7	transcript	ENST00000369864.5	protein_coding		701		chr1	TogoVar
AMIGO1_chr1_109499178_109514727	109503476	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	400	0.0025	24	c.39 others(35): Show c.3954_*3955insTATATATATATATATATATATATA	AMIGO1	ENSG00000181754.7	transcript	ENST00000369864.5	protein_coding		701		chr1	TogoVar
AMPH_chr7_38378704_38636373	38406713	C C	CCTCTCTC others(17): Show CCTCTCTCCCTCTCTCTCTCTCCCT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0050	1	288	0.0035	24	c.139 others(45): Show c.1398+11111_1398+11112insAGGGAGAGAGAGAGAGGGAGAGAG	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38406713	C C	CCTCTCTC others(17): Show CCTCTCTCCCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0278 a0001c0001t0003g0278	1	288	0.0035	24	c.139 others(45): Show c.1398+11111_1398+11112insAGAGAGAGAGAGAGAGGGAGAGAG	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38406728	T T	TTCTCTCT others(17): Show TTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	288	0.0035	24	c.139 others(45): Show c.1398+11096_1398+11097insGAGAGAGAGAGAGAGAGAGAGAGA	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38407021	C C	CCTCTCTC others(17): Show CCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG03492.hp1 NA18945.hp1 others(3): Show HG02135.hp2 HG03492.hp1 NA18945.hp1 NA18984.hp2 NA18999.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0002 a0001c0001t0006 a0001c0002t0002	a0001c0001t0006g0028 a0001c0002t0002g0044 a0001c0002t0002g0129 others(3): Show a0001c0001t0006g0028 a0001c0002t0002g0044 a0001c0002t0002g0129 a0001c0002t0002g0180 a0001c0002t0002g0182 a0001c0002t0002g0253	6	288	0.0208	24	c.139 others(45): Show c.1398+10780_1398+10803dupAGAGAGAGAGAGAGAGAGAGAGAG	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38407048	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0001 a0004c0011t0001	a0004c0011t0001g0072 a0004c0011t0001g0072	1	288	0.0035	24	c.139 others(45): Show c.1398+10776_1398+10777insTATATATATAGAGAGAGAGAGAGA	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38407048	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0170 a0001c0002t0002g0170	1	288	0.0035	24	c.139 others(45): Show c.1398+10776_1398+10777insTATATAGAGAGAGAGAGAGAGAGA	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38416102	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01099.hp1 HG01255.hp2 others(13): Show HG00140.hp2 HG01099.hp1 HG01255.hp2 HG01515.hp2 HG01517.hp2 HG02040.hp2 HG02293.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03579.hp2 HG03688.hp1 NA18951.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0016 a0003c0006 a0001c0001 a0001c0016 a0003c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0016t0004 a0003c0006t0004	a0001c0001t0001g0020 a0001c0001t0001g0048 a0001c0001t0001g0082 others(13): Show a0001c0001t0001g0020 a0001c0001t0001g0048 a0001c0001t0001g0082 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0217 a0001c0001t0003g0050 a0001c0001t0003g0069 a0001c0001t0003g0209 a0001c0001t0004g0092 a0001c0001t0004g0141 a0001c0001t0005g0034 a0001c0016t0004g0219 a0003c0006t0004g0004	16	288	0.0556	24	c.139 others(43): Show c.1398+1699_1398+1722dupATATATATATATATATATATATAT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38445010	T T	TATATATA others(17): Show TATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18986.hp2 NA19054.hp1 NA18984.hp1 NA18986.hp2 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0172 a0001c0001t0001g0262 a0001c0001t0001g0147 a0001c0001t0001g0172 a0001c0001t0001g0262	3	288	0.0104	24	c.101 others(43): Show c.1018-8623_1018-8622insGTGTGTGTGTATATATATATATAT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	11/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38525258	G G	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0022 a0001c0005t0004g0022	1	288	0.0035	24	c.150 others(41): Show c.150+9672_150+9673insTATATATATATATATATATATACA	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	2/20			chr7	TogoVar
AMZ2_chr17_68243043_68262155	68247357	A A	AAAAAAAG others(17): Show AAAAAAAGCAAGAAAAAGAAATAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG02896.hp1 HG03098.hp1 others(5): Show HG00423.hp1 HG02896.hp1 HG03098.hp1 HG03239.hp2 NA18979.hp1 NA18980.hp2 NA18987.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	8	438	0.0183	24	c.-13 others(35): Show c.-1349_-1348insAAAAAAGCAAGAAAAAGAAATAAG	AMZ2	ENSG00000196704.14	transcript	ENST00000359904.8	protein_coding		685		chr17	TogoVar
ANAPC10_chr4_144989576_145103196	145026945	A A	ATATATAT others(17): Show ATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	336	0.0030	24	c.328 others(43): Show c.328-31343_328-31342insCACATATATATATATATATATATA	ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4			chr4	TogoVar
ANAPC10_chr4_144989576_145103196	145026945	A A	ATATATAT others(17): Show ATATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 NA18979.hp1 NA18990.hp2 others(3): Show HG00099.hp2 NA18979.hp1 NA18990.hp2 NA19009.hp1 NA19012.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0216 others(3): Show a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0216 a0001c0001t0001g0223 a0001c0001t0001g0243 a0001c0001t0001g0244	6	336	0.0179	24	c.328 others(43): Show c.328-31343_328-31342insCACACATATATATATATATATATA	ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4			chr4	TogoVar
ANAPC10_chr4_144989576_145103196	145026945	A A	ATATATAT others(17): Show ATATATATATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG03688.hp2 HG02004.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0262 a0001c0001t0001g0207 a0001c0001t0001g0262	2	336	0.0060	24	c.328 others(43): Show c.328-31343_328-31342insCACACACATATATATATATATATA	ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4			chr4	TogoVar
ANAPC10_chr4_144989576_145103196	145034523	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	336	0.0030	24	c.327 others(43): Show c.327+30048_327+30049insTATATATATATATATATATATATA	ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4			chr4	TogoVar
ANAPC16_chr10_72211012_72240860	72218145	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0049 a0001c0001t0003g0049	1	352	0.0028	24	c.-28 others(41): Show c.-28+2028_-28+2029insAAAAAAAAAAAAAAAAAAAAAAAA	ANAPC16	ENSG00000166295.9	transcript	ENST00000299381.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
ANAPC1_chr2_111762640_111889193	111764813	T T	TATATATA others(17): Show TATATATATATATACATACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0290 a0001c0003t0004g0290	1	370	0.0027	24	c.44 others(35): Show c.4477_*4478insGTGTGTGTATGTATATATATATAT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		2826		chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111764813	T T	TATATATA others(17): Show TATATATATATATATACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01255.hp1 HG03654.hp2 others(1): Show HG01192.hp2 HG01255.hp1 HG03654.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0267 a0001c0003t0004g0291 a0001c0003t0004g0292 others(1): Show a0001c0003t0004g0267 a0001c0003t0004g0291 a0001c0003t0004g0292 a0001c0003t0004g0293	4	370	0.0108	24	c.44 others(35): Show c.4477_*4478insGTGTGTGTGTATATATATATATAT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		2826		chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111764813	T T	TATATATA others(17): Show TATATATATATATATATACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01928.hp2 HG01981.hp2 others(4): Show HG01261.hp2 HG01928.hp2 HG01981.hp2 HG02080.hp1 HG02148.hp1 HG03710.hp2 HG04228.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0004c0030 a0001c0003 a0004c0030	a0001c0003t0004 a0001c0003t0019 a0004c0030t0004 a0001c0003t0004 a0001c0003t0019 a0004c0030t0004	a0001c0003t0004g0264 a0001c0003t0004g0281 a0001c0003t0004g0282 others(4): Show a0001c0003t0004g0264 a0001c0003t0004g0281 a0001c0003t0004g0282 a0001c0003t0004g0296 a0001c0003t0004g0304 a0001c0003t0019g0283 a0004c0030t0004g0285	7	370	0.0189	24	c.44 others(35): Show c.4477_*4478insGTGTGTGTATATATATATATATAT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		2826		chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111764813	T T	TATATATA others(17): Show TATATATATATATATATATACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0270 a0001c0003t0004g0270	1	370	0.0027	24	c.44 others(35): Show c.4477_*4478insGTGTGTATATATATATATATATAT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		2826		chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111764813	T T	TATATATA others(17): Show TATATATATATATATATATATACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA19065.hp2 NA18906.hp1 NA19065.hp2	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0004 a0001c0007t0004 a0001c0003t0004 a0001c0007t0004	a0001c0003t0004g0262 a0001c0007t0004g0360 a0001c0003t0004g0262 a0001c0007t0004g0360	2	370	0.0054	24	c.44 others(35): Show c.4477_*4478insGTGTATATATATATATATATATAT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		2826		chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111832937	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01123.hp2 HG01346.hp2 others(1): Show HG00140.hp2 HG01123.hp2 HG01346.hp2 NA19088.hp1	a0001 a0008 a0001 a0008	a0001c0004 a0001c0011 a0008c0019 a0001c0004 a0001c0011 a0008c0019	a0001c0004t0003 a0001c0011t0003 a0008c0019t0003 a0001c0004t0003 a0001c0011t0003 a0008c0019t0003	a0001c0004t0003g0173 a0001c0011t0003g0187 a0001c0011t0003g0188 others(1): Show a0001c0004t0003g0173 a0001c0011t0003g0187 a0001c0011t0003g0188 a0008c0019t0003g0170	4	370	0.0108	24	c.247 others(41): Show c.2476+282_2476+283insTTTTTTTTTTTTTTTTTTTTTTTT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding	20/47			chr2	TogoVar
ANAPC5_chr12_121303245_121357411	121352715	T T	TTGGTGGT others(17): Show TTGGTGGTGGTGGTGGTGGTGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	278	0.0036	24	c.-37 others(33): Show c.-376_-375insCCACCACCACCACCACCACCACCA	ANAPC5	ENSG00000089053.13	transcript	ENST00000261819.8	protein_coding		305		chr12	TogoVar
ANAPC5_chr12_121303245_121357411	121352718	T T	TTGGTGGT others(17): Show TTGGTGGTGGTGGTGGTGGTGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 NA18970.hp1 HG02630.hp2 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0122 a0001c0001t0001g0084 a0001c0001t0001g0122	2	278	0.0072	24	c.-37 others(33): Show c.-379_-378insCCACCACCACCACCACCACCACCA	ANAPC5	ENSG00000089053.13	transcript	ENST00000261819.8	protein_coding		308		chr12	TogoVar
ANAPC5_chr12_121303245_121357411	121352718	T T	TTGTTGTT others(17): Show TTGTTGTTGGTGGTGGTGGTGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG03195.hp2 HG02486.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0131 a0001c0001t0001g0132	2	278	0.0072	24	c.-37 others(33): Show c.-379_-378insCCACCACCACCACCACCAACAACA	ANAPC5	ENSG00000089053.13	transcript	ENST00000261819.8	protein_coding		308		chr12	TogoVar
ANAPC5_chr12_121303245_121357411	121357376	A A	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG03195.hp2 HG02486.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0131 a0001c0001t0001g0132	2	278	0.0072	24	c.-50 others(35): Show c.-5060_-5037dupCTTTCTTTCTTTCTTTCTTTCTTT	ANAPC5	ENSG00000089053.13	transcript	ENST00000261819.8	protein_coding		4966		chr12	TogoVar
ANAPC7_chr12_110367900_110408708	110382453	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	298	0.0034	24	c.935 others(39): Show c.935+389_935+390insATATATATATATATATATATATAT	ANAPC7	ENSG00000196510.14	transcript	ENST00000455511.9	protein_coding	7/10			chr12	TogoVar
ANAPC7_chr12_110367900_110408708	110382459	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	298	0.0034	24	c.935 others(39): Show c.935+383_935+384insATATATATATATATATATATATAT	ANAPC7	ENSG00000196510.14	transcript	ENST00000455511.9	protein_coding	7/10			chr12	TogoVar
ANAPC7_chr12_110367900_110408708	110387255	C C	CAGAGAGA others(17): Show CAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG03579.hp1 HG01168.hp2 HG01169.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0209	3	298	0.0101	24	c.674 others(39): Show c.674+460_674+483dupCTCTCTCTCTCTCTCTCTCTCTCT	ANAPC7	ENSG00000196510.14	transcript	ENST00000455511.9	protein_coding	5/10			chr12	TogoVar
ANGEL2_chr1_212987182_213020867	212996640	A A	AAAATATA others(17): Show AAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0135 a0001c0001t0004g0135	1	392	0.0026	24	c.148 others(41): Show c.1483+514_1483+515insATATATATATATATATATATATTT	ANGEL2	ENSG00000174606.14	transcript	ENST00000366962.8	protein_coding	8/8			chr1	TogoVar
ANGPT1_chr8_107244482_107502918	107300144	C C	CATCTATA others(17): Show CATCTATATATAGAGATCTATATCT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0030 a0003c0003t0002g0030	1	292	0.0034	24	c.936 others(41): Show c.936+3072_936+3095dupAGATATAGATCTCTATATATAGAT	ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	5/8			chr8	TogoVar
ANGPT1_chr8_107244482_107502918	107333996	G G	GGGAAGGA others(17): Show GGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02970.hp1 NA18953.hp2 others(1): Show HG02129.hp1 HG02970.hp1 NA18953.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0027 a0001c0001t0001g0151 a0001c0001t0001g0191 others(1): Show a0001c0001t0001g0027 a0001c0001t0001g0151 a0001c0001t0001g0191 a0001c0001t0002g0040	4	292	0.0137	24	c.575 others(41): Show c.575+2130_575+2153dupTTCCTTCCTTCCTTCCTTCCTTCC	ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	3/8			chr8	TogoVar
ANGPT1_chr8_107244482_107502918	107333996	G G	GGGAGGGA others(17): Show GGGAGGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA18981.hp2 HG04115.hp1 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0148 a0001c0001t0002g0082 a0001c0001t0002g0148	2	292	0.0069	24	c.575 others(41): Show c.575+2153_575+2154insTTCCTTCCTTCCTTCCTTCCCTCC	ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	3/8			chr8	TogoVar
ANGPT1_chr8_107244482_107502918	107370176	G G	GAAGAAAG others(17): Show GAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0016 a0001c0001t0022g0016	1	292	0.0034	24	c.298 others(43): Show c.298-23080_298-23079insTCTTTCTTTCTTTCTTTCTTTCTT	ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	1/8			chr8	TogoVar
ANGPT2_chr8_6494632_6568245	6562552	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18977.hp2 NA19060.hp1 HG00558.hp1 NA18977.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0006 a0001c0009t0010 a0001c0001t0006 a0001c0009t0010	a0001c0001t0006g0266 a0001c0001t0006g0267 a0001c0009t0010g0268 a0001c0001t0006g0266 a0001c0001t0006g0267 a0001c0009t0010g0268	3	336	0.0089	24	c.288 others(37): Show c.288+94_288+95insAAAAAAAAAAAAAAAAAAAAAAAA	ANGPT2	ENSG00000091879.14	transcript	ENST00000629816.3	protein_coding	1/8			chr8	TogoVar
ANGPTL1_chr1_178844535_178876077	178856194	G G	GATATATA others(17): Show GATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0061 a0001c0001t0010g0061	1	424	0.0024	24	c.824 others(41): Show c.824-2408_824-2407insATATATATATATATATATATATAT	ANGPTL1	ENSG00000116194.13	transcript	ENST00000234816.7	protein_coding	3/5			chr1	TogoVar
ANGPTL1_chr1_178844535_178876077	178856196	G G	GATATATA others(17): Show GATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0278 a0001c0001t0003g0278	1	424	0.0024	24	c.824 others(41): Show c.824-2410_824-2409insATATATATATATATATATATATAT	ANGPTL1	ENSG00000116194.13	transcript	ENST00000234816.7	protein_coding	3/5			chr1	TogoVar
ANGPTL1_chr1_178844535_178876077	178856202	G G	GAGATATA others(17): Show GAGATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0073 a0001c0003t0004g0073	1	424	0.0024	24	c.824 others(41): Show c.824-2416_824-2415insATATATATATATATATATATATCT	ANGPTL1	ENSG00000116194.13	transcript	ENST00000234816.7	protein_coding	3/5			chr1	TogoVar
ANGPTL5_chr11_101885674_101921522	101889124	T T	TAAGAAAG others(17): Show TAAGAAAGAAAGAAAGAAAGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00544.hp1 NA18945.hp2 others(1): Show HG00438.hp2 HG00544.hp1 NA18945.hp2 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0210 a0001c0001t0001g0272 others(1): Show a0001c0001t0001g0053 a0001c0001t0001g0210 a0001c0001t0001g0272 a0001c0001t0001g0286	4	422	0.0095	24	c.21 others(35): Show c.2154_*2155insTCTTTCTTTCTTTCTTTCTTTCTT	ANGPTL5	ENSG00000187151.7	transcript	ENST00000334289.7	protein_coding		1549		chr11	TogoVar
ANK1_chr8_41648225_41802622	41703450	A A	ATATATAT others(17): Show ATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03098.hp2 HG02622.hp1 HG03098.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0006 a0001c0012t0006	a0001c0012t0006g0085 a0001c0012t0006g0099 a0001c0012t0006g0085 a0001c0012t0006g0099	2	278	0.0072	24	c.229 others(41): Show c.2295+590_2295+591insAAAAAAAAAAAATATATATATATA	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	20/42			chr8	TogoVar
ANK2_chr4_113044653_113388736	113149874	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA18940.hp2 HG02055.hp2 NA18940.hp2	a0002 a0012 a0002 a0012	a0002c0002 a0012c0016 a0002c0002 a0012c0016	a0002c0002t0001 a0012c0016t0001 a0002c0002t0001 a0012c0016t0001	a0002c0002t0001g0002 a0012c0016t0001g0132 a0002c0002t0001g0002 a0012c0016t0001g0132	2	178	0.0112	24	c.85- others(41): Show c.85-24539_85-24516dupAAAAAAAAAAAAAAAAAAAAAAAA	ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	1/45		INFO_REALIGN_3_PRIME	chr4	TogoVar
ANK2_chr4_113044653_113388736	113163764	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	178	0.0056	24	c.85- others(41): Show c.85-10647_85-10624dupAAAAAAAAAAAAAAAAAAAAAAAA	ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	1/45		INFO_REALIGN_3_PRIME	chr4	TogoVar
ANK3_chr10_60021298_60394875	60100234	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0023 a0023	a0023c0042 a0023c0042	a0023c0042t0002 a0023c0042t0002	a0023c0042t0002g0069 a0023c0042t0002g0069	1	192	0.0052	24	c.332 others(43): Show c.3328+5670_3328+5671insAAAAAAAAAAAAAAAAAAAAAAAA	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	28/43			chr10	TogoVar
ANKAR_chr2_189669670_189751647	189729695	C C	CGTGCGTG others(17): Show CGTGCGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	296	0.0034	24	c.319 others(41): Show c.3194-797_3194-796insCGTGTGTGTGTGTGTGTGTGTGTG	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	15/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKAR_chr2_189669670_189751647	189729715	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGTGTGTGG	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA19075.hp1 NA19077.hp2 NA18949.hp2 NA19075.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0144 a0001c0001t0001g0167 a0001c0001t0001g0121 a0001c0001t0001g0144 a0001c0001t0001g0167	3	296	0.0101	24	c.319 others(41): Show c.3194-779_3194-778insTGTGTGTGTGTGTGTGTGTGTGGG	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	15/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKAR_chr2_189669670_189751647	189744990	T T	TCTACTAC others(17): Show TCTACTACTACTACTACTACTACTA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00673.hp1 HG01167.hp2 others(26): Show HG00423.hp1 HG00673.hp1 HG01167.hp2 HG01175.hp1 HG01496.hp1 HG01884.hp2 HG02145.hp2 HG02451.hp1 HG02717.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03942.hp1 HG06807.hp2 NA18906.hp2 NA18941.hp1 NA18946.hp2 NA18951.hp2 NA18964.hp1 NA18970.hp2 NA18980.hp2 NA18982.hp1 NA18987.hp2 NA19005.hp2 NA19057.hp2 NA19064.hp2 NA19068.hp1 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0001c0015 others(1): Show a0001c0001 a0001c0008 a0001c0015 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0008t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0008t0001 a0001c0015t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(26): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0040 a0001c0001t0001g0071 a0001c0001t0001g0201 a0001c0001t0001g0222 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0002g0202 a0001c0001t0002g0212 a0001c0001t0002g0218 a0001c0008t0001g0117 a0001c0015t0001g0077 a0002c0002t0001g0064 a0002c0002t0001g0066	29	296	0.0980	24	c.405 others(41): Show c.4057+218_4057+241dupCTACTACTACTACTACTACTACTA	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKAR_chr2_189669670_189751647	189745027	C C	CTACTAAT others(17): Show CTACTAATAATAATAATAATAATAA	intron_variant intron_variant	MODIFIER	HG02148.hp2 NA21309.hp1 HG02148.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0188 a0001c0001t0001g0101 a0001c0001t0001g0188	2	296	0.0068	24	c.405 others(41): Show c.4057+241_4057+242insCTAATAATAATAATAATAATAATA	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKAR_chr2_189669670_189751647	189745027	C C	CTACTACT others(17): Show CTACTACTACTACTAATAATAATAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01192.hp1 HG01257.hp1 others(11): Show HG00733.hp1 HG01192.hp1 HG01257.hp1 HG01346.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG02004.hp2 HG02258.hp1 HG02735.hp1 HG03490.hp2 HG04204.hp1 NA19011.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0107 others(11): Show a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0107 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0186	14	296	0.0473	24	c.405 others(41): Show c.4057+241_4057+242insCTACTACTACTAATAATAATAATA	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr2	TogoVar

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