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
AKAP5_chr14_64460499_64479503	64463227	A A	AACACACA others(7): Show AACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00597.hp2 others(14): Show HG00408.hp1 HG00438.hp1 HG00597.hp2 HG02040.hp2 HG03486.hp2 HG03540.hp1 NA18939.hp2 NA18941.hp1 NA18953.hp1 NA18954.hp2 NA18980.hp2 NA18981.hp1 NA18984.hp2 NA18985.hp2 NA19005.hp2 NA19063.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0003g0001 a0001c0001t0004g0001 others(1): Show a0001c0001t0001g0001 a0001c0001t0003g0001 a0001c0001t0004g0001 a0001c0001t0005g0001	17	426	0.0399	14	c.-26 others(25): Show c.-2650_-2649insACACACACACACAC	AKAP5	ENSG00000179841.8	transcript	ENST00000394718.4	protein_coding		2271		chr14	TogoVar
AKAP6_chr14_32324298_32842684	32361053	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp2 HG02922.hp1 HG02109.hp2 HG02451.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0017 a0001c0004t0001 a0001c0004t0050 a0001c0001t0017 a0001c0004t0001 a0001c0004t0050	a0001c0001t0017g0112 a0001c0004t0001g0145 a0001c0004t0050g0146 a0001c0001t0017g0112 a0001c0004t0001g0145 a0001c0004t0050g0146	3	154	0.0195	14	c.-35 others(33): Show c.-35+31648_-35+31649insTATATATATATATA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32400563	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00639.hp1 others(60): Show HG00099.hp1 HG00099.hp2 HG00639.hp1 HG00639.hp2 HG01071.hp1 HG01071.hp2 HG01109.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01891.hp1 HG01891.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02055.hp2 HG02074.hp1 HG02132.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02886.hp1 HG02897.hp2 HG02922.hp1 HG03017.hp1 HG03017.hp2 HG03225.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03704.hp1 HG03704.hp2 NA18906.hp2 NA18942.hp1 NA18952.hp1 NA18954.hp1 NA18959.hp1 NA18983.hp1 NA18983.hp2 NA18991.hp1 NA18995.hp1 NA18995.hp2 NA19062.hp2 NA19077.hp1 NA19077.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0010 a0011 a0012 a0013 a0015 a0017 a0026 a0028 a0029	a0001c0001 a0001c0004 a0001c0010 others(27): Show a0001c0001 a0001c0004 a0001c0010 a0001c0019 a0001c0045 a0002c0002 a0002c0009 a0002c0044 a0003c0003 a0003c0005 a0003c0017 a0003c0032 a0003c0057 a0004c0007 a0004c0018 a0004c0034 a0005c0011 a0005c0050 a0006c0026 a0008c0014 a0008c0055 a0010c0047 a0011c0016 a0012c0048 a0013c0054 a0015c0046 a0017c0031 a0026c0029 a0028c0051 a0029c0056	a0001c0001t0001 a0001c0001t0006 a0001c0001t0020 others(43): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0020 a0001c0001t0030 a0001c0001t0038 a0001c0004t0001 a0001c0004t0007 a0001c0004t0050 a0001c0010t0001 a0001c0010t0005 a0001c0019t0001 a0001c0045t0009 a0002c0002t0001 a0002c0002t0014 a0002c0002t0024 a0002c0002t0036 a0002c0009t0001 a0002c0009t0003 a0002c0009t0011 a0002c0044t0001 a0003c0003t0002 a0003c0005t0002 a0003c0005t0011 a0003c0017t0002 a0003c0032t0052 a0003c0057t0026 a0004c0007t0006 a0004c0007t0022 a0004c0018t0004 a0004c0034t0008 a0005c0011t0001 a0005c0050t0007 a0006c0026t0016 a0008c0014t0002 a0008c0014t0027 a0008c0014t0028 a0008c0055t0006 a0010c0047t0003 a0011c0016t0002 a0012c0048t0034 a0013c0054t0006 a0015c0046t0001 a0017c0031t0001 a0026c0029t0029 a0028c0051t0002 a0029c0056t0003	a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0125 others(60): Show a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0125 a0001c0001t0006g0045 a0001c0001t0020g0076 a0001c0001t0030g0016 a0001c0001t0038g0038 a0001c0004t0001g0098 a0001c0004t0007g0013 a0001c0004t0007g0020 a0001c0004t0050g0146 a0001c0010t0001g0080 a0001c0010t0001g0084 a0001c0010t0005g0006 a0001c0019t0001g0143 a0001c0045t0009g0094 a0002c0002t0001g0001 a0002c0002t0001g0010 a0002c0002t0001g0046 a0002c0002t0001g0052 a0002c0002t0001g0056 a0002c0002t0001g0102 a0002c0002t0014g0097 a0002c0002t0024g0077 a0002c0002t0036g0137 a0002c0009t0001g0008 a0002c0009t0003g0036 a0002c0009t0003g0081 a0002c0009t0011g0103 a0002c0044t0001g0009 a0003c0003t0002g0025 a0003c0003t0002g0035 a0003c0003t0002g0037 a0003c0003t0002g0078 a0003c0005t0002g0053 a0003c0005t0002g0091 a0003c0005t0002g0122 a0003c0005t0011g0017 a0003c0017t0002g0073 a0003c0032t0052g0093 a0003c0057t0026g0003 a0004c0007t0006g0072 a0004c0007t0006g0101 a0004c0007t0022g0022 a0004c0018t0004g0040 a0004c0034t0008g0064 a0005c0011t0001g0024 a0005c0011t0001g0083 a0005c0050t0007g0150 a0006c0026t0016g0111 a0008c0014t0002g0018 a0008c0014t0027g0054 a0008c0014t0028g0021 a0008c0055t0006g0105 a0010c0047t0003g0031 a0011c0016t0002g0085 a0012c0048t0034g0118 a0013c0054t0006g0106 a0015c0046t0001g0126 a0017c0031t0001g0026 a0026c0029t0029g0060 a0028c0051t0002g0011 a0029c0056t0003g0075	63	154	0.4091	14	c.-34 others(33): Show c.-34-32894_-34-32881dupAAAAAAAAAAAAAA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32404691	G G	GATATATA others(7): Show GATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0025 a0003c0003t0025	a0003c0003t0025g0012 a0003c0003t0025g0012	1	154	0.0065	14	c.-34 others(33): Show c.-34-28762_-34-28749dupATATATATATATAT	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(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01261.hp1 HG01978.hp2 others(21): Show HG01243.hp2 HG01261.hp1 HG01978.hp2 HG02074.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02622.hp2 HG02630.hp1 HG02738.hp2 HG03471.hp2 HG03486.hp2 HG03704.hp1 NA18942.hp2 NA18947.hp2 NA18952.hp2 NA18983.hp2 NA18991.hp1 NA18991.hp2 NA18995.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0007 a0008 a0009 a0013	a0001c0001 a0001c0004 a0001c0010 others(11): Show a0001c0001 a0001c0004 a0001c0010 a0002c0002 a0002c0009 a0003c0003 a0003c0005 a0003c0032 a0004c0007 a0004c0027 a0007c0015 a0008c0014 a0009c0012 a0013c0054	a0001c0001t0001 a0001c0001t0049 a0001c0004t0001 others(16): Show a0001c0001t0001 a0001c0001t0049 a0001c0004t0001 a0001c0010t0005 a0002c0002t0001 a0002c0002t0003 a0002c0009t0001 a0002c0009t0003 a0002c0009t0011 a0003c0003t0002 a0003c0005t0002 a0003c0005t0011 a0003c0032t0052 a0004c0007t0006 a0004c0027t0004 a0007c0015t0008 a0008c0014t0028 a0009c0012t0040 a0013c0054t0006	a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0087 others(21): Show a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0087 a0001c0001t0001g0134 a0001c0001t0049g0015 a0001c0004t0001g0098 a0001c0010t0005g0006 a0002c0002t0001g0046 a0002c0002t0001g0102 a0002c0002t0003g0082 a0002c0002t0003g0086 a0002c0009t0001g0008 a0002c0009t0003g0081 a0002c0009t0011g0103 a0003c0003t0002g0078 a0003c0005t0002g0053 a0003c0005t0011g0017 a0003c0032t0052g0093 a0004c0007t0006g0101 a0004c0027t0004g0108 a0007c0015t0008g0127 a0008c0014t0028g0021 a0009c0012t0040g0104 a0013c0054t0006g0106	24	154	0.1558	14	c.-34 others(33): Show c.-34-12537_-34-12524dupGTGTGTGTGTGTGT	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32420909	T T	TTTTGTGT others(7): Show TTTTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG02055.hp1 others(6): Show HG00140.hp1 HG00639.hp1 HG02055.hp1 HG02723.hp1 HG02970.hp2 NA18947.hp1 NA18954.hp2 NA19056.hp1 NA19062.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0014	a0001c0001 a0001c0006 a0002c0002 others(4): Show a0001c0001 a0001c0006 a0002c0002 a0003c0005 a0005c0011 a0006c0008 a0014c0037	a0001c0001t0046 a0001c0001t0047 a0001c0006t0015 others(5): Show a0001c0001t0046 a0001c0001t0047 a0001c0006t0015 a0002c0002t0041 a0003c0005t0002 a0005c0011t0005 a0006c0008t0004 a0014c0037t0003	a0001c0001t0046g0004 a0001c0001t0047g0034 a0001c0006t0015g0135 others(6): Show a0001c0001t0046g0004 a0001c0001t0047g0034 a0001c0006t0015g0135 a0002c0002t0041g0019 a0003c0005t0002g0091 a0005c0011t0005g0005 a0006c0008t0004g0114 a0006c0008t0004g0117 a0014c0037t0003g0100	9	154	0.0584	14	c.-34 others(33): Show c.-34-12550_-34-12549insTTGTGTGTGTGTGT	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32492355	T T	TATATATA others(7): Show TATATATATATATAG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0007 a0007	a0007c0053 a0007c0053	a0007c0053t0019 a0007c0053t0019	a0007c0053t0019g0071 a0007c0053t0019g0071	1	154	0.0065	14	c.325 others(33): Show c.325-43198_325-43197insTATATATATATAGA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32510405	T T	TGTATATA others(7): Show TGTATATATATACAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0024 a0024	a0024c0042 a0024c0042	a0024c0042t0015 a0024c0042t0015	a0024c0042t0015g0151 a0024c0042t0015g0151	1	154	0.0065	14	c.325 others(33): Show c.325-25149_325-25148insGTATATATATACAC	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	2/13			chr14	TogoVar
AKAP6_chr14_32324298_32842684	32540168	C C	CTCTATAT others(7): Show CTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0020 a0001c0004t0007g0020	1	154	0.0065	14	c.576 others(31): Show c.576+4364_576+4365insCTATATATATATAT	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32540168	C C	CTCTCTAT others(7): Show CTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02922.hp1 HG01071.hp2 HG02922.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0050 a0002c0002t0001 a0001c0004t0050 a0002c0002t0001	a0001c0004t0050g0146 a0002c0002t0001g0010 a0001c0004t0050g0146 a0002c0002t0001g0010	2	154	0.0130	14	c.576 others(31): Show c.576+4364_576+4365insCTCTATATATATAT	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32593011	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02897.hp2 HG02109.hp2 HG02897.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0050 a0001c0001 a0005c0050	a0001c0001t0017 a0005c0050t0007 a0001c0001t0017 a0005c0050t0007	a0001c0001t0017g0112 a0005c0050t0007g0150 a0001c0001t0017g0112 a0005c0050t0007g0150	2	154	0.0130	14	c.247 others(33): Show c.2470-6361_2470-6348dupCACACACACACACA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32615167	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02647.hp2 HG03098.hp1 others(4): Show HG02615.hp2 HG02647.hp2 HG03098.hp1 HG03516.hp2 HG04228.hp1 HG04228.hp2 NA19240.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0004 a0001c0006 others(3): Show a0001c0001 a0001c0004 a0001c0006 a0001c0019 a0003c0005 a0007c0015	a0001c0001t0008 a0001c0001t0048 a0001c0004t0007 others(4): Show a0001c0001t0008 a0001c0001t0048 a0001c0004t0007 a0001c0006t0007 a0001c0019t0001 a0003c0005t0002 a0007c0015t0018	a0001c0001t0008g0129 a0001c0001t0048g0128 a0001c0004t0007g0110 others(4): Show a0001c0001t0008g0129 a0001c0001t0048g0128 a0001c0004t0007g0110 a0001c0006t0007g0099 a0001c0019t0001g0002 a0003c0005t0002g0027 a0007c0015t0018g0089	7	154	0.0455	14	c.273 others(35): Show c.2730+14381_2730+14394dupAAAAAAAAAAAAAA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32769037	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp2 HG02886.hp1 others(2): Show HG01884.hp2 HG02451.hp2 HG02886.hp1 HG02895.hp2 HG03098.hp1	a0001 a0009 a0023 a0001 a0009 a0023	a0001c0004 a0001c0006 a0001c0019 others(2): Show a0001c0004 a0001c0006 a0001c0019 a0009c0012 a0023c0041	a0001c0004t0001 a0001c0006t0007 a0001c0019t0001 others(2): Show a0001c0004t0001 a0001c0006t0007 a0001c0019t0001 a0009c0012t0039 a0023c0041t0008	a0001c0004t0001g0145 a0001c0006t0007g0099 a0001c0019t0001g0143 others(2): Show a0001c0004t0001g0145 a0001c0006t0007g0099 a0001c0019t0001g0143 a0009c0012t0039g0136 a0023c0041t0008g0047	5	154	0.0325	14	c.337 others(33): Show c.3373-4627_3373-4614dupTTTTTTTTTTTTTT	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32786296	A A	ATGTTTTT others(7): Show ATGTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG01346.hp2 others(8): Show HG00099.hp1 HG00140.hp1 HG01346.hp2 HG01981.hp1 HG02109.hp2 HG02615.hp1 HG03688.hp1 HG03831.hp1 HG04228.hp2 NA19077.hp1 NA20129.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0014 a0026	a0001c0001 a0001c0006 a0001c0010 others(7): Show a0001c0001 a0001c0006 a0001c0010 a0002c0002 a0003c0005 a0004c0007 a0004c0021 a0005c0011 a0014c0037 a0026c0029	a0001c0001t0017 a0001c0001t0020 a0001c0006t0001 others(8): Show a0001c0001t0017 a0001c0001t0020 a0001c0006t0001 a0001c0010t0005 a0002c0002t0001 a0003c0005t0002 a0004c0007t0022 a0004c0021t0004 a0005c0011t0001 a0014c0037t0003 a0026c0029t0029	a0001c0001t0017g0112 a0001c0001t0020g0076 a0001c0006t0001g0057 others(8): Show a0001c0001t0017g0112 a0001c0001t0020g0076 a0001c0006t0001g0057 a0001c0010t0005g0032 a0002c0002t0001g0056 a0003c0005t0002g0027 a0004c0007t0022g0022 a0004c0021t0004g0131 a0005c0011t0001g0024 a0014c0037t0003g0100 a0026c0029t0029g0060	11	154	0.0714	14	c.358 others(35): Show c.3588+12404_3588+12405insGTTTTTTTTTTTTT	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP7_chr6_131130467_131288532	131161644	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 NA19043.hp1 HG01099.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0225 a0001c0001t0001g0153 a0001c0001t0001g0225	2	304	0.0066	14	c.291 others(31): Show c.291+1473_291+1486dupAAAAAAAAAAAAAA	AKAP7	ENSG00000118507.19	transcript	ENST00000431975.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
AKAP7_chr6_131130467_131288532	131207491	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18965.hp1 NA18970.hp1 others(2): Show NA18953.hp1 NA18965.hp1 NA18970.hp1 NA18991.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0033 a0001c0001t0004g0038 a0001c0001t0004g0186 others(2): Show a0001c0001t0004g0033 a0001c0001t0004g0038 a0001c0001t0004g0186 a0001c0001t0004g0207 a0001c0001t0006g0284	5	304	0.0165	14	c.702 others(31): Show c.702+7931_702+7944dupTTTTTTTTTTTTTT	AKAP7	ENSG00000118507.19	transcript	ENST00000431975.7	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
AKAP7_chr6_131130467_131288532	131247269	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	304	0.0033	14	c.850 others(33): Show c.850+27493_850+27506dupATATATATATATAT	AKAP7	ENSG00000118507.19	transcript	ENST00000431975.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
AKAP8L_chr19_15375050_15423988	15392896	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00735.hp1 HG01175.hp1 others(42): Show HG00408.hp2 HG00735.hp1 HG01175.hp1 HG01243.hp2 HG01358.hp2 HG01978.hp1 HG01978.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02148.hp1 HG02148.hp2 HG02486.hp1 HG02486.hp2 HG02738.hp1 HG02738.hp2 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG03017.hp2 HG03098.hp1 HG03486.hp1 HG03490.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp2 NA18940.hp2 NA18944.hp1 NA18944.hp2 NA18951.hp2 NA18956.hp1 NA18956.hp2 NA18984.hp1 NA18984.hp2 NA19004.hp1 NA19004.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 others(42): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0111 a0001c0001t0001g0117 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0143 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0172 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0197 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0007t0001g0160	45	254	0.1772	14	c.153 others(33): Show c.1536+4253_1536+4254insTTTTTTTTTTTTTT	AKAP8L	ENSG00000011243.19	transcript	ENST00000397410.10	protein_coding	12/13			chr19	TogoVar
AKAP8L_chr19_15375050_15423988	15406362	G G	GGAGAGAG others(7): Show GGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02055.hp1 HG02735.hp1 others(4): Show HG01934.hp2 HG02055.hp1 HG02735.hp1 HG02895.hp2 HG02922.hp2 HG03130.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0200 others(4): Show a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0200 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0230 a0001c0003t0001g0145	7	254	0.0276	14	c.89- others(29): Show c.89-2334_89-2321dupTCTCTCTCTCTCTC	AKAP8L	ENSG00000011243.19	transcript	ENST00000397410.10	protein_coding	2/13			chr19	TogoVar
AKAP8L_chr19_15375050_15423988	15422060	A A	ACAGAAAA others(7): Show ACAGAAAAACACACG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	254	0.0039	14	c.-31 others(25): Show c.-3151_-3138dupCGTGTGTTTTTCTG	AKAP8L	ENSG00000011243.19	transcript	ENST00000397410.10	protein_coding		3073		chr19	TogoVar
AKAP9_chr7_91935862_92115673	92018395	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA19003.hp2 NA19087.hp2 NA18977.hp2 NA19003.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0117 a0001c0001t0001g0162 a0001c0008t0001g0189 a0001c0001t0001g0117 a0001c0001t0001g0162 a0001c0008t0001g0189	3	306	0.0098	14	c.383 others(33): Show c.3837+1327_3837+1340dupCACACACACACACA	AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	12/49		INFO_REALIGN_3_PRIME	chr7	TogoVar
AKAP9_chr7_91935862_92115673	92061584	C C	CTATATAT others(7): Show CTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG03209.hp1 NA18939.hp1 others(7): Show HG02129.hp2 HG03209.hp1 NA18939.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA19009.hp1 NA19082.hp1 NA19085.hp2 NA19086.hp2	a0001 a0016 a0001 a0016	a0001c0001 a0016c0028 a0001c0001 a0016c0028	a0001c0001t0001 a0016c0028t0001 a0001c0001t0001 a0016c0028t0001	a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0028 others(7): Show a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0053 a0001c0001t0001g0103 a0001c0001t0001g0121 a0016c0028t0001g0003	10	306	0.0327	14	c.576 others(31): Show c.5764+185_5764+198dupTATATATATATATA	AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	23/49		INFO_REALIGN_3_PRIME	chr7	TogoVar
AKIRIN2_chr6_87669860_87707233	87676596	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02559.hp2 HG02723.hp1 others(1): Show HG01884.hp2 HG02559.hp2 HG02723.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0030 a0001c0001t0033 others(1): Show a0001c0001t0004 a0001c0001t0030 a0001c0001t0033 a0001c0001t0036	a0001c0001t0004g0301 a0001c0001t0030g0149 a0001c0001t0033g0285 others(1): Show a0001c0001t0004g0301 a0001c0001t0030g0149 a0001c0001t0033g0285 a0001c0001t0036g0297	4	406	0.0099	14	c.530 others(29): Show c.530-679_530-666dupGTGTGTGTGTGTGT	AKIRIN2	ENSG00000135334.9	transcript	ENST00000257787.6	protein_coding	3/4			chr6	TogoVar
AKNAD1_chr1_108810901_108862094	108856716	T T	TCACACAC others(7): Show TCACACACATAAACA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02738.hp1 HG01243.hp1 HG02738.hp1	a0007 a0007	a0007c0021 a0007c0021	a0007c0021t0005 a0007c0021t0005	a0007c0021t0005g0036 a0007c0021t0005g0037 a0007c0021t0005g0036 a0007c0021t0005g0037	2	398	0.0050	14	c.-10 others(31): Show c.-104+212_-104+213insTGTTTATGTGTGTG	AKNAD1	ENSG00000162641.20	transcript	ENST00000370001.8	protein_coding	1/15			chr1	TogoVar
AKR1B15_chr7_134544110_134584869	134562890	C C	CTTTCTTT others(7): Show CTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	404	0.0025	14	c.-22 others(31): Show c.-22-1708_-22-1707insTTTCTTTCTTTCTT	AKR1B15	ENSG00000227471.9	transcript	ENST00000457545.7	protein_coding	2/11			chr7	TogoVar
AKR1B1_chr7_134437356_134464100	134443563	A A	AACAGGGC others(7): Show AACAGGGCAGGGAGC	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	446	0.0022	14	c.909 others(29): Show c.909-807_909-794dupGCTCCCTGCCCTGT	AKR1B1	ENSG00000085662.14	transcript	ENST00000285930.9	protein_coding	9/9			chr7	TogoVar
AKR1C4_chr10_5191837_5223949	5221401	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 NA18962.hp2 HG03209.hp2 NA18962.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0009 a0001c0003t0001g0090 a0001c0003t0001g0009 a0001c0003t0001g0090	2	434	0.0046	14	c.26 others(25): Show c.2641_*2642insAAAAAAAAAAAAAA	AKR1C4	ENSG00000198610.11	transcript	ENST00000263126.3	protein_coding		2453		chr10	TogoVar
AKR1D1_chr7_138071459_138123305	138118771	A A	AGGAAGGA others(7): Show AGGAAGGAAGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG02622.hp2 HG02723.hp1 others(5): Show HG01099.hp1 HG02622.hp2 HG02723.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0027 a0001c0001t0035 a0001c0001t0042 others(3): Show a0001c0001t0027 a0001c0001t0035 a0001c0001t0042 a0001c0001t0047 a0001c0001t0063 a0001c0002t0028	a0001c0001t0027g0345 a0001c0001t0027g0346 a0001c0001t0035g0348 others(5): Show a0001c0001t0027g0345 a0001c0001t0027g0346 a0001c0001t0035g0348 a0001c0001t0042g0351 a0001c0001t0047g0272 a0001c0001t0063g0260 a0001c0002t0028g0217 a0001c0002t0028g0248	8	426	0.0188	14	c.21 others(25): Show c.2109_*2110insGGAAGGAAGGAAGG	AKR1D1	ENSG00000122787.15	transcript	ENST00000242375.8	protein_coding		467		chr7	TogoVar
AKR1D1_chr7_138071459_138123305	138118772	A A	AGGAAGGA others(7): Show AGGAAGGAAGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0207 a0001c0001t0065g0207	1	426	0.0024	14	c.21 others(25): Show c.2110_*2111insGGAAGGAAGGAAGG	AKR1D1	ENSG00000122787.15	transcript	ENST00000242375.8	protein_coding		468		chr7	TogoVar
AKT1_chr14_104764349_104800748	104769554	C C	CGTCGAAA others(7): Show CGTCGAAAAGGTCAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp2 NA19064.hp2 NA19085.hp2 HG00544.hp2 NA19064.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0031 a0001c0001t0008g0185 a0001c0001t0008g0031 a0001c0001t0008g0185	3	386	0.0078	14	c.77 others(23): Show c.773_*786dupTTGACCTTTTCGAC	AKT1	ENSG00000142208.18	transcript	ENST00000649815.2	protein_coding	15/15	786		chr14	TogoVar
AKT2_chr19_40225317_40290345	40285357	C C	CGCCCCCT others(7): Show CGCCCCCTCCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0298 a0001c0001t0003g0298	1	360	0.0028	14	c.-27 others(23): Show c.-275_-262dupTGGGGGGAGGGGGC	AKT2	ENSG00000105221.18	transcript	ENST00000392038.7	protein_coding		13		chr19	TogoVar
AKT3_chr1_243494724_243855243	243525768	T T	TAAGAAGA others(7): Show TAAGAAGAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0301 a0001c0001t0022g0301	1	301	0.0033	14	c.125 others(35): Show c.1252-13343_1252-13342insTCTTTCTTCTTCTT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243525789	A A	AAGAAAGA others(7): Show AAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0199 a0001c0001t0002g0199	1	301	0.0033	14	c.125 others(35): Show c.1252-13377_1252-13364dupCTTTCTTTCTTTCT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243526778	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0037 a0001c0001t0028g0037	1	301	0.0033	14	c.125 others(35): Show c.1252-14353_1252-14352insTTTTTTTTTTTTTT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243609334	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	301	0.0033	14	c.696 others(31): Show c.696+4323_696+4336dupCACACACACACACA	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	8/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243693243	G G	GATATATA others(7): Show GATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0103 a0001c0001t0037g0103	1	301	0.0033	14	c.172 others(31): Show c.172+2334_172+2347dupATATATATATATAT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	3/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243699465	C C	CTATATAC others(7): Show CTATATACATATATA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0018 a0001c0001t0024g0018	1	301	0.0033	14	c.47- others(29): Show c.47-3750_47-3749insTATATATGTATATA	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	2/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243699465	C C	CTATATAT others(7): Show CTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG03831.hp1 HG04228.hp2 HG01167.hp2 HG03831.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0156 a0001c0001t0002g0198 a0001c0001t0002g0066 a0001c0001t0002g0156 a0001c0001t0002g0198	3	301	0.0100	14	c.47- others(29): Show c.47-3763_47-3750dupTATATATATATATA	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	2/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243699511	A A	ATATATAT others(7): Show ATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0034 a0001c0001t0003g0034	1	301	0.0033	14	c.47- others(29): Show c.47-3796_47-3795insCATATATATATATA	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	2/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243699512	T T	TATATATA others(7): Show TATATATATATATAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0275 a0001c0001t0003g0275	1	301	0.0033	14	c.47- others(29): Show c.47-3797_47-3796insTTATATATATATAT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	2/13			chr1	TogoVar
ALAS2_chrX_55004055_55035977	55023191	G G	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	284	0.0035	14	c.415 others(29): Show c.415+552_415+565dupACACACACACACAC	ALAS2	ENSG00000158578.21	transcript	ENST00000650242.1	protein_coding	4/10			chrX	TogoVar
ALCAM_chr3_105361909_105581900	105368223	A A	AAGAGAGA others(7): Show AAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00673.hp2 others(17): Show HG00099.hp2 HG00438.hp1 HG00673.hp2 HG00741.hp2 HG01255.hp1 HG01256.hp2 HG02071.hp2 HG02074.hp1 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02896.hp2 HG03579.hp1 HG03831.hp2 NA18960.hp1 NA18969.hp2 NA18974.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004 a0004c0007	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0002c0004t0002 a0004c0007t0001	a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 others(17): Show a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0004g0192 a0001c0002t0001g0189 a0001c0002t0003g0190 a0001c0002t0003g0216 a0001c0002t0003g0372 a0001c0003t0001g0032 a0001c0003t0001g0033 a0001c0003t0001g0034 a0001c0003t0001g0035 a0001c0003t0002g0200 a0002c0004t0002g0191 a0002c0004t0002g0193 a0002c0004t0002g0194 a0004c0007t0001g0195	20	378	0.0529	14	c.73+ others(27): Show c.73+770_73+783dupGAGAGAGAGAGAGA	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
ALCAM_chr3_105361909_105581900	105454653	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0095 a0001c0002t0003g0095	1	378	0.0027	14	c.74- others(31): Show c.74-65393_74-65380dupTTTTTTTTTTTTTT	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
ALCAM_chr3_105361909_105581900	105470132	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02602.hp1 HG02698.hp1 others(6): Show HG01168.hp1 HG02602.hp1 HG02698.hp1 HG03017.hp1 HG03669.hp1 HG04204.hp1 HG04228.hp1 NA18942.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0103 others(6): Show a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0103 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0343 a0001c0001t0001g0346 a0001c0001t0001g0352 a0001c0001t0001g0356	9	378	0.0238	14	c.74- others(31): Show c.74-49917_74-49904dupCACACACACACACA	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
ALCAM_chr3_105361909_105581900	105563667	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0320 a0001c0002t0003g0320	1	378	0.0027	14	c.166 others(33): Show c.1665-8167_1665-8154dupTTTTTTTTTTTTTT	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
ALDH18A1_chr10_95600941_95661711	95609769	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02451.hp1 HG03579.hp1 others(1): Show HG02132.hp1 HG02451.hp1 HG03579.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0004t0001g0101 others(1): Show a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0004t0001g0101 a0001c0004t0001g0109	4	372	0.0108	14	c.220 others(31): Show c.2206+414_2206+427dupAAAAAAAAAAAAAA	ALDH18A1	ENSG00000059573.9	transcript	ENST00000371224.7	protein_coding	17/17			chr10	TogoVar
ALDH18A1_chr10_95600941_95661711	95655681	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	372	0.0027	14	c.-29 others(29): Show c.-29+902_-29+915dupACACACACACACAC	ALDH18A1	ENSG00000059573.9	transcript	ENST00000371224.7	protein_coding	1/17			chr10	TogoVar
ALDH1A2_chr15_57948429_58070711	57958214	G G	GCACACAC others(7): Show GCACACACACACACA	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0025 a0002c0002t0003g0025	1	326	0.0031	14	c.148 others(33): Show c.1484+2555_1484+2556insTGTGTGTGTGTGTG	ALDH1A2	ENSG00000128918.15	transcript	ENST00000249750.9	protein_coding	12/12			chr15	TogoVar
ALDH1A2_chr15_57948429_58070711	57981289	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0122 a0002c0002t0002g0122	1	326	0.0031	14	c.798 others(33): Show c.798+11402_798+11415dupGTGTGTGTGTGTGT	ALDH1A2	ENSG00000128918.15	transcript	ENST00000249750.9	protein_coding	7/12			chr15	TogoVar
ALDH1L2_chr12_105014790_105089458	105046149	T T	TTCTCTCT others(7): Show TTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0043 a0001c0001t0003g0043	1	386	0.0026	14	c.186 others(31): Show c.1863+547_1863+560dupGAGAGAGAGAGAGA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	15/22			chr12	TogoVar

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