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
AKAP3_chr12_4610518_4654051	4624822	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02818.hp1 others(2): Show HG01167.hp2 HG01169.hp1 HG02818.hp1 HG03453.hp1 HG03516.hp1	a0001 a0010 a0001 a0010	a0001c0002 a0010c0012 a0001c0002 a0010c0012	a0001c0002t0001 a0010c0012t0001 a0001c0002t0001 a0010c0012t0001	a0001c0002t0001g0176 a0001c0002t0001g0177 a0010c0012t0001g0174 others(2): Show a0001c0002t0001g0176 a0001c0002t0001g0177 a0010c0012t0001g0174 a0010c0012t0001g0265 a0010c0012t0001g0266	5	418	0.0120	18	c.240 others(37): Show c.2406+1673_2406+1674insTACACACACACACACACA	AKAP3	ENSG00000111254.8	transcript	ENST00000228850.6	protein_coding	5/5			chr12	TogoVar
AKAP3_chr12_4610518_4654051	4624824	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18978.hp2 NA19087.hp2 others(1): Show NA18948.hp1 NA18978.hp2 NA19087.hp2 NA19088.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0198 a0002c0003t0001g0214 a0002c0003t0001g0233 others(1): Show a0002c0003t0001g0198 a0002c0003t0001g0214 a0002c0003t0001g0233 a0002c0003t0001g0249	4	418	0.0096	18	c.240 others(37): Show c.2406+1671_2406+1672insTACACACACACACACACA	AKAP3	ENSG00000111254.8	transcript	ENST00000228850.6	protein_coding	5/5			chr12	TogoVar
AKAP5_chr14_64460499_64479503	64463225	T T	TACACACA others(11): Show TACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	426	0.0024	18	c.-26 others(29): Show c.-2652_-2651insACACACACACACACACAC	AKAP5	ENSG00000179841.8	transcript	ENST00000394718.4	protein_coding		2273		chr14	TogoVar
AKAP5_chr14_64460499_64479503	64463227	A A	AACACACA others(11): Show AACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG01167.hp1 HG01256.hp2 others(28): Show HG00733.hp2 HG01167.hp1 HG01256.hp2 HG01433.hp1 HG01517.hp1 HG01517.hp2 HG01934.hp2 HG01975.hp1 HG02071.hp1 HG02071.hp2 HG02135.hp1 HG02523.hp2 HG02602.hp1 HG03688.hp2 HG04184.hp1 NA18943.hp2 NA18951.hp2 NA18953.hp2 NA18957.hp2 NA18989.hp1 NA18992.hp1 NA18999.hp2 NA19012.hp2 NA19064.hp1 NA19067.hp1 NA19067.hp2 NA19082.hp2 NA19087.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0012 a0001c0001t0026 a0001c0001t0029 a0001c0001t0034 a0003c0003t0003	a0001c0001t0001g0001 a0001c0001t0003g0001 a0001c0001t0004g0001 others(7): Show a0001c0001t0001g0001 a0001c0001t0003g0001 a0001c0001t0004g0001 a0001c0001t0005g0001 a0001c0001t0010g0001 a0001c0001t0012g0001 a0001c0001t0026g0001 a0001c0001t0029g0001 a0001c0001t0034g0001 a0003c0003t0003g0001	31	426	0.0728	18	c.-26 others(29): Show c.-2650_-2649insACACACACACACACACAC	AKAP5	ENSG00000179841.8	transcript	ENST00000394718.4	protein_coding		2271		chr14	TogoVar
AKAP6_chr14_32324298_32842684	32404691	G G	GATATATA others(11): Show GATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01978.hp1 NA18952.hp1 HG01109.hp2 HG01978.hp1 NA18952.hp1	a0002 a0007 a0010 a0002 a0007 a0010	a0002c0009 a0007c0015 a0010c0020 a0002c0009 a0007c0015 a0010c0020	a0002c0009t0003 a0007c0015t0035 a0010c0020t0003 a0002c0009t0003 a0007c0015t0035 a0010c0020t0003	a0002c0009t0003g0036 a0007c0015t0035g0033 a0010c0020t0003g0095 a0002c0009t0003g0036 a0007c0015t0035g0033 a0010c0020t0003g0095	3	154	0.0195	18	c.-34 others(37): Show c.-34-28766_-34-28749dupATATATATATATATATAT	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32420909	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02559.hp1 HG02615.hp1 others(1): Show HG02109.hp1 HG02559.hp1 HG02615.hp1 HG03130.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0016	a0001c0004 a0002c0025 a0004c0021 others(1): Show a0001c0004 a0002c0025 a0004c0021 a0016c0022	a0001c0004t0013 a0002c0025t0004 a0004c0021t0004 others(1): Show a0001c0004t0013 a0002c0025t0004 a0004c0021t0004 a0016c0022t0013	a0001c0004t0013g0116 a0002c0025t0004g0115 a0004c0021t0004g0131 others(1): Show a0001c0004t0013g0116 a0002c0025t0004g0115 a0004c0021t0004g0131 a0016c0022t0013g0044	4	154	0.0260	18	c.-34 others(37): Show c.-34-12541_-34-12524dupGTGTGTGTGTGTGTGTGT	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32466827	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02258.hp2 HG02738.hp1 others(4): Show HG01346.hp1 HG02258.hp2 HG02738.hp1 HG03516.hp2 HG03688.hp1 HG06807.hp1 NA20129.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0021	a0001c0001 a0001c0006 a0002c0002 others(3): Show a0001c0001 a0001c0006 a0002c0002 a0003c0017 a0005c0059 a0021c0035	a0001c0001t0008 a0001c0006t0001 a0001c0006t0032 others(4): Show a0001c0001t0008 a0001c0006t0001 a0001c0006t0032 a0002c0002t0003 a0003c0017t0002 a0005c0059t0010 a0021c0035t0001	a0001c0001t0008g0129 a0001c0006t0001g0057 a0001c0006t0032g0119 others(4): Show a0001c0001t0008g0129 a0001c0006t0001g0057 a0001c0006t0032g0119 a0002c0002t0003g0074 a0003c0017t0002g0073 a0005c0059t0010g0028 a0021c0035t0001g0124	7	154	0.0455	18	c.324 others(37): Show c.324+33012_324+33029dupATATATATATATATATAT	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32492337	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG03688.hp2 NA19081.hp2 HG01175.hp2 HG03688.hp2 NA19081.hp2	a0003 a0011 a0003 a0011	a0003c0003 a0003c0005 a0011c0016 a0003c0003 a0003c0005 a0011c0016	a0003c0003t0025 a0003c0005t0001 a0011c0016t0002 a0003c0003t0025 a0003c0005t0001 a0011c0016t0002	a0003c0003t0025g0012 a0003c0005t0001g0066 a0011c0016t0002g0088 a0003c0003t0025g0012 a0003c0005t0001g0066 a0011c0016t0002g0088	3	154	0.0195	18	c.325 others(37): Show c.325-43215_325-43198dupTATATATATATATATATA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32492355	T T	TATATATA others(11): Show TATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18959.hp2 NA19056.hp1 HG02074.hp1 NA18959.hp2 NA19056.hp1	a0003 a0005 a0008 a0003 a0005 a0008	a0003c0003 a0005c0011 a0008c0014 a0003c0003 a0005c0011 a0008c0014	a0003c0003t0002 a0005c0011t0005 a0008c0014t0028 a0003c0003t0002 a0005c0011t0005 a0008c0014t0028	a0003c0003t0002g0096 a0005c0011t0005g0005 a0008c0014t0028g0021 a0003c0003t0002g0096 a0005c0011t0005g0005 a0008c0014t0028g0021	3	154	0.0195	18	c.325 others(37): Show c.325-43198_325-43197insTATATATAGAGAGAGAGA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32492355	T T	TATATATA others(11): Show TATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01243.hp2 HG04228.hp2 others(1): Show HG00099.hp2 HG01243.hp2 HG04228.hp2 NA18947.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0003c0005	a0001c0001t0047 a0002c0002t0024 a0003c0003t0002 others(1): Show a0001c0001t0047 a0002c0002t0024 a0003c0003t0002 a0003c0005t0002	a0001c0001t0047g0034 a0002c0002t0024g0077 a0003c0003t0002g0078 others(1): Show a0001c0001t0047g0034 a0002c0002t0024g0077 a0003c0003t0002g0078 a0003c0005t0002g0027	4	154	0.0260	18	c.325 others(37): Show c.325-43198_325-43197insTATATATATAGAGAGAGA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32492355	T T	TATATATA others(11): Show TATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02602.hp2 NA18906.hp2 HG01256.hp1 HG02602.hp2 NA18906.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0002c0002 a0003c0003 a0001c0004 a0002c0002 a0003c0003	a0001c0004t0007 a0002c0002t0036 a0003c0003t0002 a0001c0004t0007 a0002c0002t0036 a0003c0003t0002	a0001c0004t0007g0013 a0002c0002t0036g0137 a0003c0003t0002g0068 a0001c0004t0007g0013 a0002c0002t0036g0137 a0003c0003t0002g0068	3	154	0.0195	18	c.325 others(37): Show c.325-43198_325-43197insTATATATATATAGAGAGA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32492355	T T	TATATATA others(11): Show TATATATATATATATAGAG	intron_variant intron_variant	MODIFIER	HG02735.hp2 NA18954.hp2 NA19056.hp2 HG02735.hp2 NA18954.hp2 NA19056.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0010 a0004c0013 a0001c0001 a0001c0010 a0004c0013	a0001c0001t0046 a0001c0010t0005 a0004c0013t0011 a0001c0001t0046 a0001c0010t0005 a0004c0013t0011	a0001c0001t0046g0004 a0001c0010t0005g0070 a0004c0013t0011g0007 a0001c0001t0046g0004 a0001c0010t0005g0070 a0004c0013t0011g0007	3	154	0.0195	18	c.325 others(37): Show c.325-43198_325-43197insTATATATATATATAGAGA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32492355	T T	TATATATA others(11): Show TATATATATATATATATAG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02735.hp1 HG02451.hp1 HG02735.hp1	a0002 a0003 a0002 a0003	a0002c0058 a0003c0057 a0002c0058 a0003c0057	a0002c0058t0021 a0003c0057t0026 a0002c0058t0021 a0003c0057t0026	a0002c0058t0021g0062 a0003c0057t0026g0003 a0002c0058t0021g0062 a0003c0057t0026g0003	2	154	0.0130	18	c.325 others(37): Show c.325-43198_325-43197insTATATATATATATATAGA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32540168	C C	CTCTCTCT others(11): Show CTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0002 a0001c0019t0001g0002	1	154	0.0065	18	c.576 others(35): Show c.576+4364_576+4365insCTCTCTATATATATATAT	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32540168	C C	CTCTCTCT others(11): Show CTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA19240.hp1 HG02622.hp1 NA19240.hp1	a0001 a0019 a0001 a0019	a0001c0006 a0019c0039 a0001c0006 a0019c0039	a0001c0006t0010 a0019c0039t0023 a0001c0006t0010 a0019c0039t0023	a0001c0006t0010g0144 a0019c0039t0023g0142 a0001c0006t0010g0144 a0019c0039t0023g0142	2	154	0.0130	18	c.576 others(35): Show c.576+4364_576+4365insCTCTCTCTATATATATAT	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32540168	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0016 a0001c0001t0030g0016	1	154	0.0065	18	c.576 others(35): Show c.576+4364_576+4365insCTCTCTCTCTATATATAT	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32540168	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0129 a0001c0001t0008g0129	1	154	0.0065	18	c.576 others(35): Show c.576+4364_576+4365insCTCTCTCTCTCTATATAT	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32540168	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02723.hp2 HG02258.hp2 HG02723.hp2	a0001 a0005 a0001 a0005	a0001c0006 a0005c0011 a0001c0006 a0005c0011	a0001c0006t0032 a0005c0011t0009 a0001c0006t0032 a0005c0011t0009	a0001c0006t0032g0119 a0005c0011t0009g0153 a0001c0006t0032g0119 a0005c0011t0009g0153	2	154	0.0130	18	c.576 others(35): Show c.576+4364_576+4365insCTCTCTCTCTCTCTATAT	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32615167	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02922.hp1 HG02559.hp1 HG02922.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0013 a0001c0004t0050 a0001c0004t0013 a0001c0004t0050	a0001c0004t0013g0116 a0001c0004t0050g0146 a0001c0004t0013g0116 a0001c0004t0050g0146	2	154	0.0130	18	c.273 others(39): Show c.2730+14377_2730+14394dupAAAAAAAAAAAAAAAAAA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32615591	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03098.hp2 HG01891.hp1 HG03098.hp2	a0010 a0018 a0010 a0018	a0010c0047 a0018c0033 a0010c0047 a0018c0033	a0010c0047t0003 a0018c0033t0019 a0010c0047t0003 a0018c0033t0019	a0010c0047t0003g0031 a0018c0033t0019g0147 a0010c0047t0003g0031 a0018c0033t0019g0147	2	154	0.0130	18	c.273 others(39): Show c.2730+14804_2730+14821dupTTTTTTTTTTTTTTTTTT	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32786296	A A	ATGTTTTT others(11): Show ATGTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02738.hp2 NA18954.hp1 others(1): Show HG01175.hp2 HG02738.hp2 NA18954.hp1 NA19056.hp1	a0001 a0005 a0007 others(1): Show a0001 a0005 a0007 a0011	a0001c0010 a0005c0011 a0007c0015 others(1): Show a0001c0010 a0005c0011 a0007c0015 a0011c0016	a0001c0010t0001 a0005c0011t0005 a0007c0015t0008 others(1): Show a0001c0010t0001 a0005c0011t0005 a0007c0015t0008 a0011c0016t0002	a0001c0010t0001g0084 a0005c0011t0005g0005 a0007c0015t0008g0127 others(1): Show a0001c0010t0001g0084 a0005c0011t0005g0005 a0007c0015t0008g0127 a0011c0016t0002g0088	4	154	0.0260	18	c.358 others(39): Show c.3588+12404_3588+12405insGTTTTTTTTTTTTTTTTT	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32811241	G G	GAAAAAAA others(11): Show GAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01993.hp1 HG02615.hp2 others(1): Show HG01891.hp2 HG01993.hp1 HG02615.hp2 HG03516.hp2	a0001 a0004 a0007 others(1): Show a0001 a0004 a0007 a0008	a0001c0001 a0004c0007 a0007c0015 others(1): Show a0001c0001 a0004c0007 a0007c0015 a0008c0055	a0001c0001t0008 a0004c0007t0018 a0007c0015t0018 others(1): Show a0001c0001t0008 a0004c0007t0018 a0007c0015t0018 a0008c0055t0006	a0001c0001t0008g0129 a0004c0007t0018g0042 a0007c0015t0018g0089 others(1): Show a0001c0001t0008g0129 a0004c0007t0018g0042 a0007c0015t0018g0089 a0008c0055t0006g0105	4	154	0.0260	18	c.358 others(39): Show c.3589-10146_3589-10145insAAAAAAAAAAAAAAAAAA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32841990	C C	CCTCCCCT others(11): Show CCTCCCCTCCCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0021 a0021	a0021c0035 a0021c0035	a0021c0035t0001 a0021c0035t0001	a0021c0035t0001g0124 a0021c0035t0001g0124	1	154	0.0065	18	c.12 others(31): Show c.12185_*12186insCTCCCCTCCCCCTCCCCT	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding		4307		chr14	TogoVar
AKAP7_chr6_131130467_131288532	131207491	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01123.hp1 HG01175.hp1 others(14): Show HG01109.hp2 HG01123.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01258.hp2 HG01516.hp2 HG01517.hp2 HG01981.hp2 HG02004.hp2 HG03139.hp1 HG03492.hp1 HG03669.hp2 HG03927.hp1 HG04204.hp2 HG04228.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0037	a0002c0002t0001g0027 a0002c0002t0001g0063 a0002c0002t0001g0067 others(14): Show a0002c0002t0001g0027 a0002c0002t0001g0063 a0002c0002t0001g0067 a0002c0002t0001g0109 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0180 a0002c0002t0002g0233 a0002c0002t0002g0235 a0002c0002t0002g0273 a0002c0002t0002g0288 a0002c0002t0003g0048 a0002c0002t0003g0070 a0002c0002t0003g0134 a0002c0002t0037g0162	17	304	0.0559	18	c.702 others(35): Show c.702+7927_702+7944dupTTTTTTTTTTTTTTTTTT	AKAP7	ENSG00000118507.19	transcript	ENST00000431975.7	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
AKAP8L_chr19_15375050_15423988	15384980	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0241 a0001c0006t0001g0241	1	254	0.0039	18	c.153 others(37): Show c.1537-4369_1537-4368insAAAAAAAAAAAAAAAAAA	AKAP8L	ENSG00000011243.19	transcript	ENST00000397410.10	protein_coding	12/13			chr19	TogoVar
AKAP8L_chr19_15375050_15423988	15406362	G G	GGAGAGAG others(11): Show GGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02723.hp2 NA18906.hp1 HG02615.hp1 HG02723.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0211 a0001c0001t0001g0231 a0001c0003t0001g0147 a0001c0001t0001g0211 a0001c0001t0001g0231 a0001c0003t0001g0147	3	254	0.0118	18	c.89- others(33): Show c.89-2338_89-2321dupTCTCTCTCTCTCTCTCTC	AKAP8L	ENSG00000011243.19	transcript	ENST00000397410.10	protein_coding	2/13			chr19	TogoVar
AKAP9_chr7_91935862_92115673	92061584	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG01106.hp2 others(17): Show HG00280.hp1 HG00423.hp1 HG01106.hp2 HG01123.hp1 HG01884.hp2 HG02273.hp1 HG02622.hp1 HG02809.hp2 HG02896.hp2 HG02965.hp2 HG03139.hp2 HG03492.hp2 NA18945.hp2 NA18951.hp2 NA18952.hp1 NA18955.hp1 NA19011.hp2 NA19066.hp1 NA19087.hp1 NA19240.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0004c0004 a0006c0006 a0001c0001 a0004c0004 a0006c0006	a0001c0001t0001 a0004c0004t0001 a0006c0006t0001 a0001c0001t0001 a0004c0004t0001 a0006c0006t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(17): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0068 a0001c0001t0001g0172 a0001c0001t0001g0186 a0004c0004t0001g0192 a0004c0004t0001g0197 a0004c0004t0001g0202 a0004c0004t0001g0205 a0006c0006t0001g0204	20	306	0.0654	18	c.576 others(35): Show c.5764+181_5764+198dupTATATATATATATATATA	AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	23/49		INFO_REALIGN_3_PRIME	chr7	TogoVar
AKAP9_chr7_91935862_92115673	92102448	T T	TTACTACT others(11): Show TTACTACTACTACTACTAC	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	306	0.0033	18	c.110 others(37): Show c.11098-121_11098-104dupTACTACTACTACTACTAC	AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	45/49		INFO_REALIGN_3_PRIME	chr7	TogoVar
AKIP1_chr11_8906189_8925079	8910709	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02486.hp1 HG02615.hp2 others(3): Show HG01884.hp1 HG02486.hp1 HG02615.hp2 HG02723.hp1 HG02970.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0138 a0001c0001t0001g0139 others(2): Show a0001c0001t0001g0026 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142	6	420	0.0143	18	c.-52 others(27): Show c.-521_-520insGTGTGTGTGTGTGTGTGT	AKIP1	ENSG00000166452.12	transcript	ENST00000309377.9	protein_coding		479		chr11	TogoVar
AKIRIN1_chr1_38986276_39011059	38994672	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02040.hp1 HG02572.hp2 others(5): Show HG00438.hp2 HG02040.hp1 HG02572.hp2 NA18948.hp1 NA18970.hp2 NA18971.hp2 NA18978.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0029 a0001c0001t0001 a0001c0001t0029	a0001c0001t0001g0022 a0001c0001t0001g0065 a0001c0001t0001g0081 others(2): Show a0001c0001t0001g0022 a0001c0001t0001g0065 a0001c0001t0001g0081 a0001c0001t0001g0198 a0001c0001t0029g0065	8	426	0.0188	18	c.220 others(35): Show c.220+3089_220+3106dupTTTTTTTTTTTTTTTTTT	AKIRIN1	ENSG00000174574.16	transcript	ENST00000432648.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
AKIRIN2_chr6_87669860_87707233	87676596	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02040.hp2 HG02056.hp1 others(4): Show HG01346.hp2 HG02040.hp2 HG02056.hp1 HG02922.hp2 NA18522.hp2 NA19043.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0004 a0001c0001t0010	a0001c0001t0004g0308 a0001c0001t0004g0309 a0001c0001t0004g0310 others(4): Show a0001c0001t0004g0308 a0001c0001t0004g0309 a0001c0001t0004g0310 a0001c0001t0004g0318 a0001c0001t0004g0322 a0001c0001t0004g0323 a0001c0001t0010g0135	7	406	0.0172	18	c.530 others(33): Show c.530-683_530-666dupGTGTGTGTGTGTGTGTGT	AKIRIN2	ENSG00000135334.9	transcript	ENST00000257787.6	protein_coding	3/4			chr6	TogoVar
AKIRIN2_chr6_87669860_87707233	87676596	A A	AACACACG others(11): Show AACACACGCACGCGCGCAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03130.hp2 HG02257.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0056 a0001c0002t0007g0057 a0001c0002t0007g0056 a0001c0002t0007g0057	2	406	0.0049	18	c.530 others(33): Show c.530-666_530-665insGTGCGCGCGTGCGTGTGT	AKIRIN2	ENSG00000135334.9	transcript	ENST00000257787.6	protein_coding	3/4			chr6	TogoVar
AKNAD1_chr1_108810901_108862094	108856716	T T	TCACACAC others(11): Show TCACACACATAAACACACA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG04115.hp1 HG00140.hp1 HG04115.hp1	a0007 a0007	a0007c0021 a0007c0021	a0007c0021t0005 a0007c0021t0005	a0007c0021t0005g0034 a0007c0021t0005g0035 a0007c0021t0005g0034 a0007c0021t0005g0035	2	398	0.0050	18	c.-10 others(35): Show c.-104+212_-104+213insTGTGTGTTTATGTGTGTG	AKNAD1	ENSG00000162641.20	transcript	ENST00000370001.8	protein_coding	1/15			chr1	TogoVar
AKR1C4_chr10_5191837_5223949	5221401	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG02922.hp1 HG01243.hp2 HG01884.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0041 a0001c0003t0001g0087 a0001c0001t0001g0041 a0001c0003t0001g0087	3	434	0.0069	18	c.26 others(29): Show c.2641_*2642insAAAAAAAAAAAAAAAAAA	AKR1C4	ENSG00000198610.11	transcript	ENST00000263126.3	protein_coding		2453		chr10	TogoVar
AKR1D1_chr7_138071459_138123305	138092931	A A	ACAATGAA others(11): Show ACAATGAATCACATAATAT	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0041 a0001c0001t0043g0041	1	426	0.0024	18	c.378 others(35): Show c.378+1048_378+1065dupCAATGAATCACATAATAT	AKR1D1	ENSG00000122787.15	transcript	ENST00000242375.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
AKR1D1_chr7_138071459_138123305	138100088	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02896.hp2 HG02897.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0113 a0001c0001t0011g0114 a0001c0001t0011g0120 a0001c0001t0011g0113 a0001c0001t0011g0114 a0001c0001t0011g0120	3	426	0.0070	18	c.456 others(35): Show c.456+2158_456+2175dupAAAAAAAAAAAAAAAAAA	AKR1D1	ENSG00000122787.15	transcript	ENST00000242375.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
AKR7A2_chr1_19298965_19317144	19312149	G G	GCCGGGGG others(11): Show GCCGGGGGCCCCGGGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00741.hp2 HG04204.hp1 HG00735.hp2 HG00741.hp2 HG04204.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0125 a0004c0004t0001g0031 a0001c0001t0001g0125 a0004c0004t0001g0031	3	460	0.0065	18	c.-26 others(25): Show c.-26_-25insGGCCCCCGGGGCCCCCGG	AKR7A2	ENSG00000053371.13	transcript	ENST00000235835.8	protein_coding		6		chr1	TogoVar
AKT3_chr1_243494724_243855243	243525768	T T	TAAGAAAG others(11): Show TAAGAAAGAAAAAGAAAGA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0019 a0001c0001t0004g0019	1	301	0.0033	18	c.125 others(39): Show c.1252-13343_1252-13342insTCTTTCTTTTTCTTTCTT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243525768	T T	TAAGAGAA others(11): Show TAAGAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	301	0.0033	18	c.125 others(39): Show c.1252-13343_1252-13342insTCTTTCTTTCTTTCTCTT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243525801	A A	AAGAAAGA others(11): Show AAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0022 a0001c0001t0004g0022	1	301	0.0033	18	c.125 others(39): Show c.1252-13376_1252-13375insCTTTCTTTCTTTCTTTCT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243525803	G G	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	301	0.0033	18	c.125 others(39): Show c.1252-13378_1252-13377insTTCTTTCTTTCTTTCTTT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243526778	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	301	0.0033	18	c.125 others(39): Show c.1252-14353_1252-14352insTTTTTTTTTTTTTTTTTT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243535166	A A	ATATTTAA others(11): Show ATATTTAAAATTTTAAAAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02165.hp1 HG00423.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0253 a0001c0001t0001g0254	2	301	0.0066	18	c.125 others(39): Show c.1251+10326_1251+10343dupATTTTAAAATTTTAAATA	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243686630	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02683.hp1 HG03195.hp2 others(4): Show HG01884.hp2 HG02683.hp1 HG03195.hp2 HG03579.hp2 NA18983.hp1 NA19058.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0050 a0001c0001t0001 a0001c0001t0005 a0001c0001t0050	a0001c0001t0001g0217 a0001c0001t0001g0224 a0001c0001t0001g0230 others(4): Show a0001c0001t0001g0217 a0001c0001t0001g0224 a0001c0001t0001g0230 a0001c0001t0001g0258 a0001c0001t0005g0294 a0001c0001t0005g0296 a0001c0001t0050g0298	7	301	0.0233	18	c.172 others(35): Show c.172+8943_172+8960dupATATATATATATATATAT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	3/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243686651	A A	ATATATAT others(11): Show ATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02717.hp2 HG02809.hp1 HG02257.hp2 HG02717.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0288 a0001c0001t0005g0289 a0001c0001t0005g0290 a0001c0001t0005g0288 a0001c0001t0005g0289 a0001c0001t0005g0290	3	301	0.0100	18	c.172 others(35): Show c.172+8939_172+8940insAATATATATATATATATA	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	3/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243699465	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03098.hp2 NA19074.hp1 HG01109.hp1 HG03098.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0030 a0001c0001t0002 a0001c0001t0015 a0001c0001t0030	a0001c0001t0002g0153 a0001c0001t0015g0027 a0001c0001t0030g0152 a0001c0001t0002g0153 a0001c0001t0015g0027 a0001c0001t0030g0152	3	301	0.0100	18	c.47- others(33): Show c.47-3767_47-3750dupTATATATATATATATATA	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	2/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243815776	A A	AGTTGTTG others(11): Show AGTTGTTGTTGTTGTTGTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(126): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00423.hp1 HG00621.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01891.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02145.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG03098.hp1 HG03139.hp2 HG03239.hp2 HG03471.hp1 HG03579.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp2 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18970.hp2 NA18977.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18989.hp2 NA18990.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19058.hp1 NA19060.hp1 NA19064.hp1 NA19064.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19077.hp2 NA19080.hp1 NA19084.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0017 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0001c0001t0031 a0001c0001t0033 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0041 a0001c0001t0042 a0001c0001t0045 a0001c0002t0003	a0001c0001t0001g0070 a0001c0001t0001g0077 a0001c0001t0001g0078 others(126): Show a0001c0001t0001g0070 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0274 a0001c0001t0001g0281 a0001c0001t0002g0030 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0066 a0001c0001t0002g0069 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0179 a0001c0001t0002g0182 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0193 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0229 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0056 a0001c0001t0003g0138 a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0006g0161 a0001c0001t0006g0167 a0001c0001t0006g0173 a0001c0001t0006g0174 a0001c0001t0006g0175 a0001c0001t0006g0176 a0001c0001t0006g0177 a0001c0001t0006g0282 a0001c0001t0007g0267 a0001c0001t0007g0271 a0001c0001t0007g0272 a0001c0001t0007g0273 a0001c0001t0009g0001 a0001c0001t0009g0002 a0001c0001t0009g0003 a0001c0001t0009g0004 a0001c0001t0011g0180 a0001c0001t0011g0235 a0001c0001t0011g0236 a0001c0001t0012g0008 a0001c0001t0017g0166 a0001c0001t0019g0268 a0001c0001t0019g0269 a0001c0001t0022g0301 a0001c0001t0023g0005 a0001c0001t0024g0018 a0001c0001t0025g0010 a0001c0001t0028g0037 a0001c0001t0031g0195 a0001c0001t0033g0145 a0001c0001t0036g0029 a0001c0001t0038g0241 a0001c0001t0039g0270 a0001c0001t0041g0073 a0001c0001t0042g0165 a0001c0001t0045g0187 a0001c0002t0003g0168	129	301	0.4286	18	c.46+ others(35): Show c.46+27331_46+27348dupAACAACAACAACAACAAC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	2/13			chr1	TogoVar
ALAD_chr9_113381312_113406284	113381760	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG01123.hp1 HG01167.hp1 others(31): Show HG00621.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01261.hp2 HG01346.hp1 HG01975.hp2 HG02040.hp1 HG02055.hp2 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02148.hp1 HG02486.hp2 HG02738.hp2 HG02896.hp2 HG03041.hp1 HG03139.hp1 HG03704.hp1 HG04115.hp1 NA18941.hp1 NA18941.hp2 NA18946.hp2 NA18947.hp1 NA18990.hp1 NA18994.hp2 NA19030.hp1 NA19056.hp2 NA19063.hp1 NA19065.hp1 NA19070.hp2 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0015 a0001c0003t0001 a0001c0003t0002 a0001c0003t0017 a0001c0003t0023	a0001c0001t0001g0004 a0001c0001t0001g0029 a0001c0001t0001g0111 others(29): Show a0001c0001t0001g0004 a0001c0001t0001g0029 a0001c0001t0001g0111 a0001c0001t0001g0145 a0001c0001t0001g0206 a0001c0001t0001g0237 a0001c0001t0001g0268 a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0033 a0001c0001t0002g0039 a0001c0001t0002g0087 a0001c0001t0002g0172 a0001c0001t0002g0233 a0001c0002t0001g0180 a0001c0002t0001g0267 a0001c0002t0001g0280 a0001c0002t0002g0003 a0001c0002t0002g0060 a0001c0002t0002g0148 a0001c0002t0002g0156 a0001c0002t0002g0169 a0001c0002t0002g0181 a0001c0002t0002g0255 a0001c0002t0015g0261 a0001c0003t0001g0080 a0001c0003t0001g0102 a0001c0003t0001g0287 a0001c0003t0002g0011 a0001c0003t0002g0176 a0001c0003t0017g0300 a0001c0003t0023g0107	34	446	0.0762	18	c.65 others(29): Show c.6539_*6540insAAAAAAAAAAAAAAAAAA	ALAD	ENSG00000148218.16	transcript	ENST00000409155.8	protein_coding		4551		chr9	TogoVar
ALCAM_chr3_105361909_105581900	105368223	A A	AAGAGAGA others(11): Show AAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01928.hp2 HG01943.hp2 others(17): Show HG01433.hp2 HG01928.hp2 HG01943.hp2 HG02523.hp2 HG02809.hp1 HG03834.hp1 HG04199.hp2 NA18939.hp1 NA18939.hp2 NA18957.hp1 NA18962.hp2 NA18964.hp1 NA18967.hp1 NA18981.hp2 NA19006.hp1 NA19011.hp2 NA19062.hp1 NA19065.hp2 NA19074.hp1 NA19240.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004 a0004c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0020 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0020 a0001c0002t0001 a0001c0002t0003 a0001c0003t0002 a0002c0004t0002 a0004c0007t0001	a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 others(17): Show a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0342 a0001c0001t0004g0024 a0001c0001t0004g0220 a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0020g0229 a0001c0002t0001g0218 a0001c0002t0003g0217 a0001c0002t0003g0368 a0001c0003t0002g0015 a0001c0003t0002g0037 a0001c0003t0002g0038 a0001c0003t0002g0039 a0002c0004t0002g0219 a0004c0007t0001g0224	20	378	0.0529	18	c.73+ others(31): Show c.73+766_73+783dupGAGAGAGAGAGAGAGAGA	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
ALDH1A2_chr15_57948429_58070711	57958214	G G	GCACACAC others(11): Show GCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA18985.hp2 HG03669.hp1 NA18985.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0003 a0001c0001t0003 a0002c0002t0003	a0001c0001t0003g0154 a0002c0002t0003g0010 a0001c0001t0003g0154 a0002c0002t0003g0010	2	326	0.0061	18	c.148 others(37): Show c.1484+2555_1484+2556insTGTGTGTGTGTGTGTGTG	ALDH1A2	ENSG00000128918.15	transcript	ENST00000249750.9	protein_coding	12/12			chr15	TogoVar

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