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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ADARB2_chr10_1172313_1742525	1337082	G G	GTGTGTGT others(5): Show GTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02083.hp1 HG02145.hp1 others(10): Show HG00408.hp2 HG02083.hp1 HG02145.hp1 HG02622.hp1 HG02897.hp2 HG02965.hp1 HG03098.hp1 HG03209.hp2 NA18522.hp2 NA18988.hp2 NA19043.hp1 NA20129.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0019 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0019 a0001c0001t0023 a0001c0001t0025 a0001c0001t0050 a0001c0003t0009 a0001c0003t0040 a0001c0003t0045 a0002c0002t0007 a0002c0002t0008 a0002c0002t0053 a0002c0004t0047	a0001c0001t0001g0069 a0001c0001t0003g0094 a0001c0001t0019g0038 others(10): Show a0001c0001t0001g0069 a0001c0001t0003g0094 a0001c0001t0019g0038 a0001c0001t0023g0023 a0001c0001t0025g0036 a0001c0001t0050g0077 a0001c0003t0009g0046 a0001c0003t0040g0073 a0001c0003t0045g0057 a0002c0002t0007g0001 a0002c0002t0008g0058 a0002c0002t0053g0106 a0002c0004t0047g0063	13	106	0.1226	12	c.107 others(33): Show c.1077+25945_1077+25946insTACACACACACA		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1437255	C C	CACACACA others(5): Show CACACACATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00438.hp2 others(96): Show HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00639.hp1 HG00639.hp2 HG01081.hp2 HG01243.hp1 HG01243.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG04184.hp1 HG04184.hp2 NA18522.hp1 NA18522.hp2 NA18945.hp1 NA18945.hp2 NA18967.hp1 NA18967.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19070.hp1 NA19086.hp1 NA19086.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011	a0001c0001 a0001c0003 a0001c0007 others(12): Show a0001c0001 a0001c0003 a0001c0007 a0002c0002 a0002c0004 a0002c0014 a0003c0006 a0004c0005 a0005c0015 a0006c0012 a0007c0011 a0008c0013 a0009c0010 a0010c0009 a0011c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(66): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0035 a0001c0001t0036 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0061 a0001c0003t0001 a0001c0003t0009 a0001c0003t0040 a0001c0003t0045 a0001c0003t0060 a0001c0007t0033 a0001c0007t0066 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0021 a0002c0002t0026 a0002c0002t0027 a0002c0002t0038 a0002c0002t0041 a0002c0002t0042 a0002c0002t0043 a0002c0002t0044 a0002c0002t0046 a0002c0002t0048 a0002c0002t0053 a0002c0002t0062 a0002c0002t0063 a0002c0002t0064 a0002c0004t0028 a0002c0004t0047 a0002c0014t0008 a0003c0006t0003 a0003c0006t0067 a0004c0005t0002 a0004c0005t0037 a0005c0015t0014 a0006c0012t0007 a0007c0011t0034 a0008c0013t0020 a0009c0010t0006 a0010c0009t0024 a0011c0008t0016	a0001c0001t0001g0045 a0001c0001t0001g0065 a0001c0001t0001g0069 others(96): Show a0001c0001t0001g0045 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0078 a0001c0001t0003g0085 a0001c0001t0003g0094 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0102 a0001c0001t0009g0054 a0001c0001t0009g0055 a0001c0001t0010g0013 a0001c0001t0010g0025 a0001c0001t0011g0017 a0001c0001t0011g0026 a0001c0001t0012g0009 a0001c0001t0012g0024 a0001c0001t0013g0007 a0001c0001t0015g0005 a0001c0001t0017g0030 a0001c0001t0018g0027 a0001c0001t0022g0015 a0001c0001t0023g0023 a0001c0001t0025g0036 a0001c0001t0029g0031 a0001c0001t0030g0034 a0001c0001t0031g0059 a0001c0001t0035g0079 a0001c0001t0036g0072 a0001c0001t0049g0040 a0001c0001t0050g0077 a0001c0001t0051g0051 a0001c0001t0054g0083 a0001c0001t0055g0089 a0001c0001t0056g0081 a0001c0001t0057g0103 a0001c0001t0058g0099 a0001c0001t0059g0092 a0001c0001t0061g0087 a0001c0003t0001g0052 a0001c0003t0001g0070 a0001c0003t0009g0046 a0001c0003t0040g0073 a0001c0003t0045g0057 a0001c0003t0060g0104 a0001c0007t0033g0041 a0001c0007t0066g0105 a0002c0002t0002g0043 a0002c0002t0002g0050 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0075 a0002c0002t0004g0082 a0002c0002t0004g0084 a0002c0002t0004g0088 a0002c0002t0004g0095 a0002c0002t0004g0096 a0002c0002t0004g0101 a0002c0002t0005g0012 a0002c0002t0005g0022 a0002c0002t0005g0028 a0002c0002t0005g0033 a0002c0002t0006g0011 a0002c0002t0006g0018 a0002c0002t0006g0019 a0002c0002t0007g0001 a0002c0002t0007g0002 a0002c0002t0007g0004 a0002c0002t0008g0042 a0002c0002t0008g0047 a0002c0002t0008g0058 a0002c0002t0021g0035 a0002c0002t0026g0032 a0002c0002t0027g0021 a0002c0002t0038g0048 a0002c0002t0041g0074 a0002c0002t0042g0061 a0002c0002t0043g0053 a0002c0002t0044g0049 a0002c0002t0046g0056 a0002c0002t0048g0068 a0002c0002t0053g0106 a0002c0002t0062g0093 a0002c0002t0063g0091 a0002c0002t0064g0100 a0002c0004t0028g0020 a0002c0004t0047g0063 a0002c0014t0008g0060 a0003c0006t0003g0090 a0003c0006t0067g0080 a0004c0005t0002g0039 a0004c0005t0037g0064 a0005c0015t0014g0008 a0006c0012t0007g0006 a0007c0011t0034g0076 a0008c0013t0020g0037 a0009c0010t0006g0014 a0010c0009t0024g0016 a0011c0008t0016g0003	99	106	0.9340	12	c.101 others(31): Show c.101-58096_101-58095insATATATGTGTGT		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1444281	A A	ACATCCAT others(5): Show ACATCCATCCATC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03139.hp2 HG02886.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0017 a0001c0007t0066 a0001c0001t0017 a0001c0007t0066	a0001c0001t0017g0030 a0001c0007t0066g0105 a0001c0001t0017g0030 a0001c0007t0066g0105	2	106	0.0189	12	c.101 others(31): Show c.101-65133_101-65122dupGATGGATGGATG		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1486210	C C	CTGTGTGT others(5): Show CTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02145.hp1 HG01884.hp2 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0050 a0001c0001t0001 a0001c0001t0050	a0001c0001t0001g0078 a0001c0001t0050g0077 a0001c0001t0001g0078 a0001c0001t0050g0077	2	106	0.0189	12	c.101 others(33): Show c.101-107062_101-107051dupCACACACACACA		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1498375	C C	CAAATAAA others(5): Show CAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0033 a0002c0002t0005g0033	1	106	0.0094	12	c.101 others(33): Show c.101-119227_101-119216dupATTTATTTATTT		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1510110	C C	CTCTTTCT others(5): Show CTCTTTCTCTCTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02630.hp2 HG02683.hp1 others(1): Show HG01243.hp2 HG02630.hp2 HG02683.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0009 a0001c0003t0001 a0001c0003t0060 others(1): Show a0001c0001t0009 a0001c0003t0001 a0001c0003t0060 a0002c0004t0005	a0001c0001t0009g0055 a0001c0003t0001g0070 a0001c0003t0060g0104 others(1): Show a0001c0001t0009g0055 a0001c0003t0001g0070 a0001c0003t0060g0104 a0002c0004t0005g0029	4	106	0.0377	12	c.101 others(33): Show c.101-130951_101-130950insAAGAGAGAAAGA		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1510110	C C	CTCTTTCT others(5): Show CTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02055.hp2 HG02145.hp2 others(3): Show HG01081.hp1 HG02055.hp2 HG02145.hp2 HG02258.hp2 NA18984.hp2 NA19070.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0052 a0001c0001t0057 a0002c0002t0002 others(3): Show a0001c0001t0052 a0001c0001t0057 a0002c0002t0002 a0002c0002t0005 a0002c0002t0008 a0002c0002t0044	a0001c0001t0052g0062 a0001c0001t0057g0103 a0002c0002t0002g0050 others(3): Show a0001c0001t0052g0062 a0001c0001t0057g0103 a0002c0002t0002g0050 a0002c0002t0005g0028 a0002c0002t0008g0042 a0002c0002t0044g0049	6	106	0.0566	12	c.101 others(33): Show c.101-130962_101-130951dupAAGAAAGAAAGA		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1514178	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02630.hp2 HG02717.hp1 others(3): Show HG01243.hp2 HG02630.hp2 HG02717.hp1 HG02897.hp1 NA18989.hp1 NA18998.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0005 a0001c0001 a0001c0003 a0004c0005	a0001c0001t0012 a0001c0001t0035 a0001c0001t0056 others(3): Show a0001c0001t0012 a0001c0001t0035 a0001c0001t0056 a0001c0003t0001 a0001c0003t0060 a0004c0005t0037	a0001c0001t0012g0024 a0001c0001t0035g0079 a0001c0001t0056g0081 others(3): Show a0001c0001t0012g0024 a0001c0001t0035g0079 a0001c0001t0056g0081 a0001c0003t0001g0070 a0001c0003t0060g0104 a0004c0005t0037g0064	6	106	0.0566	12	c.101 others(33): Show c.101-135030_101-135019dupATATATATATAT		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1524059	A A	AAGATAGA others(5): Show AAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0038 a0001c0001t0019g0038	1	106	0.0094	12	c.101 others(33): Show c.101-144911_101-144900dupATCTATCTATCT		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1544956	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0030 a0001c0001t0017g0030	1	106	0.0094	12	c.101 others(33): Show c.101-165808_101-165797dupGTGTGTGTGTGT		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1568800	C C	CTCTATCT others(5): Show CTCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01433.hp2 HG02027.hp2 others(5): Show HG00408.hp1 HG01433.hp2 HG02027.hp2 NA18967.hp2 NA18989.hp2 NA18998.hp1 NA18998.hp2 NA19070.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0002c0002 a0011c0008 a0001c0001 a0002c0002 a0011c0008	a0001c0001t0003 a0001c0001t0015 a0001c0001t0055 others(5): Show a0001c0001t0003 a0001c0001t0015 a0001c0001t0055 a0001c0001t0056 a0002c0002t0002 a0002c0002t0004 a0002c0002t0062 a0011c0008t0016	a0001c0001t0003g0097 a0001c0001t0015g0005 a0001c0001t0055g0089 others(5): Show a0001c0001t0003g0097 a0001c0001t0015g0005 a0001c0001t0055g0089 a0001c0001t0056g0081 a0002c0002t0002g0050 a0002c0002t0004g0082 a0002c0002t0062g0093 a0011c0008t0016g0003	8	106	0.0755	12	c.100 others(33): Show c.100+168239_100+168250dupTAGATAGATAGA		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1633549	C C	CATCTATC others(5): Show CATCTATCTATCT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0064 a0002c0002t0064	a0002c0002t0064g0100 a0002c0002t0064g0100	1	106	0.0094	12	c.100 others(33): Show c.100+103490_100+103501dupAGATAGATAGAT		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1673314	A A	ATGTGTGT others(5): Show ATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00639.hp2 HG02027.hp1 others(5): Show HG00408.hp1 HG00639.hp2 HG02027.hp1 HG02622.hp2 HG02630.hp2 NA18984.hp1 NA19043.hp2 NA21309.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0007c0011	a0001c0001t0001 a0001c0001t0015 a0001c0001t0054 others(5): Show a0001c0001t0001 a0001c0001t0015 a0001c0001t0054 a0001c0003t0001 a0002c0002t0027 a0002c0002t0064 a0002c0004t0005 a0007c0011t0034	a0001c0001t0001g0045 a0001c0001t0015g0005 a0001c0001t0054g0083 others(5): Show a0001c0001t0001g0045 a0001c0001t0015g0005 a0001c0001t0054g0083 a0001c0003t0001g0070 a0002c0002t0027g0021 a0002c0002t0064g0100 a0002c0004t0005g0029 a0007c0011t0034g0076	8	106	0.0755	12	c.100 others(31): Show c.100+63725_100+63736dupCACACACACACA		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
ADAR_chr1_154577057_154613186	154581771	A A	AAATCAAT others(5): Show AAATCAATCAATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 NA18983.hp2 NA19012.hp2 HG02559.hp2 NA18983.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0254 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0254	3	416	0.0072	12	c.30 others(23): Show c.3023_*3034dupGATTGATTGATT		ADAR	ENSG00000160710.18	transcript	ENST00000368474.9	protein_coding					285		chr1	TogoVar
ADAT1_chr16_75591868_75628281	75604456	A A	AAAAAAAA others(5): Show AAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02055.hp1 HG00738.hp1 HG02055.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0011 a0005c0006t0011	a0005c0006t0011g0113 a0005c0006t0011g0119 a0005c0006t0011g0113 a0005c0006t0011g0119	2	348	0.0058	12	c.129 others(31): Show c.1290-1286_1290-1285insATTTTTTTTTTT		ADAT1	ENSG00000065457.11	transcript	ENST00000564657.2	protein_coding	8/9						chr16	TogoVar
ADAT1_chr16_75591868_75628281	75604456	A A	AAAAAAAA others(5): Show AAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03130.hp1 HG02615.hp2 HG03130.hp1	a0004 a0005 a0004 a0005	a0004c0005 a0005c0006 a0004c0005 a0005c0006	a0004c0005t0012 a0005c0006t0043 a0004c0005t0012 a0005c0006t0043	a0004c0005t0012g0106 a0005c0006t0043g0112 a0004c0005t0012g0106 a0005c0006t0043g0112	2	348	0.0058	12	c.129 others(31): Show c.1290-1286_1290-1285insATATATTTTTTT		ADAT1	ENSG00000065457.11	transcript	ENST00000564657.2	protein_coding	8/9						chr16	TogoVar
ADAT1_chr16_75591868_75628281	75604474	T T	TATACACA others(5): Show TATACACACACAC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01516.hp2 HG01358.hp1 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0265 a0001c0001t0002g0301 a0001c0001t0002g0265 a0001c0001t0002g0301	2	348	0.0058	12	c.129 others(31): Show c.1290-1304_1290-1303insGTGTGTGTGTAT		ADAT1	ENSG00000065457.11	transcript	ENST00000564657.2	protein_coding	8/9						chr16	TogoVar
ADAT1_chr16_75591868_75628281	75618098	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0012 a0004c0005t0012	a0004c0005t0012g0104 a0004c0005t0012g0104	1	348	0.0029	12	c.293 others(27): Show c.293+476_293+487dupTTTTTTTTTTTT		ADAT1	ENSG00000065457.11	transcript	ENST00000564657.2	protein_coding	4/9						chr16	TogoVar
ADAT1_chr16_75591868_75628281	75624114	C C	CATATATA others(5): Show CATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 NA18972.hp1 HG02074.hp1 NA18972.hp1	a0003 a0007 a0003 a0007	a0003c0004 a0007c0007 a0003c0004 a0007c0007	a0003c0004t0034 a0007c0007t0004 a0003c0004t0034 a0007c0007t0004	a0003c0004t0034g0033 a0007c0007t0004g0035 a0003c0004t0034g0033 a0007c0007t0004g0035	2	348	0.0058	12	c.-17 others(23): Show c.-1734_-1733insATATATATATAT		ADAT1	ENSG00000065457.11	transcript	ENST00000564657.2	protein_coding					834		chr16	TogoVar
ADAT1_chr16_75591868_75628281	75624133	A A	ATATATAT others(5): Show ATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01884.hp1 HG02615.hp1 HG00738.hp1 HG01884.hp1 HG02615.hp1	a0003 a0005 a0003 a0005	a0003c0004 a0005c0006 a0003c0004 a0005c0006	a0003c0004t0015 a0005c0006t0011 a0005c0006t0017 a0003c0004t0015 a0005c0006t0011 a0005c0006t0017	a0003c0004t0015g0019 a0005c0006t0011g0113 a0005c0006t0017g0118 a0003c0004t0015g0019 a0005c0006t0011g0113 a0005c0006t0017g0118	3	348	0.0086	12	c.-17 others(23): Show c.-1753_-1752insAATATATATATA		ADAT1	ENSG00000065457.11	transcript	ENST00000564657.2	protein_coding					853		chr16	TogoVar
ADAT1_chr16_75591868_75628281	75624133	A A	ATATATAT others(5): Show ATATATATATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02559.hp1 HG02615.hp2 HG02055.hp1 HG02559.hp1 HG02615.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0011 a0005c0006t0043 a0005c0006t0011 a0005c0006t0043	a0005c0006t0011g0117 a0005c0006t0011g0119 a0005c0006t0043g0112 a0005c0006t0011g0117 a0005c0006t0011g0119 a0005c0006t0043g0112	3	348	0.0086	12	c.-17 others(23): Show c.-1753_-1752insAAAATATATATA		ADAT1	ENSG00000065457.11	transcript	ENST00000564657.2	protein_coding					853		chr16	TogoVar
ADAT1_chr16_75591868_75628281	75624133	A A	ATATATAT others(5): Show ATATATATTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0150 a0002c0002t0001g0150	1	348	0.0029	12	c.-17 others(23): Show c.-1753_-1752insAAAAAATATATA		ADAT1	ENSG00000065457.11	transcript	ENST00000564657.2	protein_coding					853		chr16	TogoVar
ADAT2_chr6_143417832_143455695	143425727	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0150 a0001c0001t0150	a0001c0001t0150g0187 a0001c0001t0150g0187	1	322	0.0031	12	c.27 others(23): Show c.2735_*2736insCACACACACACA		ADAT2	ENSG00000189007.16	transcript	ENST00000237283.9	protein_coding	6/6				2735		chr6	TogoVar
ADAT2_chr6_143417832_143455695	143425733	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00558.hp1 HG01123.hp2 HG01928.hp1 others(11): Show HG00558.hp1 HG01123.hp2 HG01928.hp1 HG02040.hp1 HG02109.hp2 HG02132.hp1 HG02155.hp1 HG02280.hp1 HG02809.hp1 HG04204.hp1 HG06807.hp2 NA18959.hp1 NA18990.hp2 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0024 a0001c0001t0053 a0001c0001t0071 others(8): Show a0001c0001t0024 a0001c0001t0053 a0001c0001t0071 a0001c0001t0084 a0001c0001t0088 a0001c0001t0092 a0001c0001t0108 a0001c0001t0125 a0001c0001t0145 a0001c0001t0176 a0002c0002t0037	a0001c0001t0024g0026 a0001c0001t0024g0181 a0001c0001t0053g0098 others(10): Show a0001c0001t0024g0026 a0001c0001t0024g0181 a0001c0001t0053g0098 a0001c0001t0071g0119 a0001c0001t0084g0130 a0001c0001t0088g0133 a0001c0001t0092g0135 a0001c0001t0108g0142 a0001c0001t0125g0059 a0001c0001t0145g0244 a0001c0001t0176g0272 a0002c0002t0037g0081 a0002c0002t0037g0084	14	322	0.0435	12	c.27 others(23): Show c.2718_*2729dupCACACACACACA		ADAT2	ENSG00000189007.16	transcript	ENST00000237283.9	protein_coding	6/6				2729		chr6	TogoVar
ADAT2_chr6_143417832_143455695	143427096	A A	AACACACA others(5): Show AACACACACACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02886.hp1 HG03209.hp2 HG03704.hp2 others(2): Show HG02886.hp1 HG03209.hp2 HG03704.hp2 HG03710.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0098 a0001c0001t0099 a0001c0001t0172 others(2): Show a0001c0001t0098 a0001c0001t0099 a0001c0001t0172 a0001c0001t0173 a0001c0001t0174	a0001c0001t0098g0246 a0001c0001t0099g0039 a0001c0001t0172g0252 others(2): Show a0001c0001t0098g0246 a0001c0001t0099g0039 a0001c0001t0172g0252 a0001c0001t0173g0255 a0001c0001t0174g0256	5	322	0.0155	12	c.13 others(23): Show c.1355_*1366dupGTGTGTGTGTGT		ADAT2	ENSG00000189007.16	transcript	ENST00000237283.9	protein_coding	6/6				1366		chr6	TogoVar
ADAT2_chr6_143417832_143455695	143442476	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG01099.hp1 others(7): Show HG00099.hp1 HG00140.hp2 HG01099.hp1 HG01261.hp2 HG01361.hp2 HG01993.hp2 HG02451.hp2 HG03710.hp2 HG04115.hp1 NA19085.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 others(4): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0001t0174 a0001c0001t0175 a0001c0001t0176 a0003c0004t0027	a0001c0001t0002g0054 a0001c0001t0006g0052 a0001c0001t0012g0005 others(5): Show a0001c0001t0002g0054 a0001c0001t0006g0052 a0001c0001t0012g0005 a0001c0001t0012g0053 a0001c0001t0174g0256 a0001c0001t0175g0257 a0001c0001t0176g0272 a0003c0004t0027g0090	10	322	0.0311	12	c.97- others(27): Show c.97-3794_97-3783dupGTGTGTGTGTGT		ADAT2	ENSG00000189007.16	transcript	ENST00000237283.9	protein_coding	1/5						chr6	TogoVar
ADAT3_chr19_1900399_1918447	1906866	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03130.hp1 NA18522.hp2 HG02896.hp2 HG03130.hp1 NA18522.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0041 a0001c0008t0001g0102 a0001c0008t0001g0041 a0001c0008t0001g0102	3	442	0.0068	12	c.-15 others(31): Show c.-159+1439_-159+1450dupGTGTGTGTGTGT		ADAT3	ENSG00000213638.6	transcript	ENST00000329478.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr19	TogoVar
ADA_chr20_44614522_44656699	44652734	G G	GTTTTTTA others(5): Show GTTTTTTATTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	328	0.0031	12	c.-11 others(23): Show c.-1128_-1127insATAAATAAAAAA		ADA	ENSG00000196839.14	transcript	ENST00000372874.9	protein_coding					1036		chr20	TogoVar
ADCK1_chr14_77795109_77940014	77816881	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG03710.hp1 others(3): Show HG01257.hp2 HG01258.hp2 HG03710.hp1 NA18943.hp2 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0002g0042 others(3): Show a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0002g0042 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0093	6	286	0.0210	12	c.-11 others(29): Show c.-11-2076_-11-2065dupATATATATATAT		ADCK1	ENSG00000063761.16	transcript	ENST00000238561.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
ADCK1_chr14_77795109_77940014	77842448	T T	TTTCCTTC others(5): Show TTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	286	0.0035	12	c.220 others(31): Show c.220-16572_220-16561dupCTTCCTTCCTTC		ADCK1	ENSG00000063761.16	transcript	ENST00000238561.10	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
ADCK1_chr14_77795109_77940014	77842448	T T	TTTTTTTC others(5): Show TTTTTTTCCTTCC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0001 a0002c0015t0001	a0002c0015t0001g0002 a0002c0015t0001g0002	1	286	0.0035	12	c.220 others(31): Show c.220-16626_220-16625insTTTTCCTTCCTT		ADCK1	ENSG00000063761.16	transcript	ENST00000238561.10	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
ADCK1_chr14_77795109_77940014	77852660	A A	AATAAATA others(5): Show AATAAATAAATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp1 HG02717.hp1 others(2): Show HG02109.hp1 HG02258.hp1 HG02717.hp1 HG02895.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0011 a0001c0001t0002 a0001c0002t0001 a0001c0002t0011	a0001c0001t0002g0181 a0001c0001t0002g0184 a0001c0002t0001g0180 others(2): Show a0001c0001t0002g0181 a0001c0001t0002g0184 a0001c0002t0001g0180 a0001c0002t0001g0183 a0001c0002t0011g0179	5	286	0.0175	12	c.220 others(29): Show c.220-6413_220-6412insAATAAATATATA		ADCK1	ENSG00000063761.16	transcript	ENST00000238561.10	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
ADCK1_chr14_77795109_77940014	77852883	G G	GTATATAT others(5): Show GTATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01346.hp1 HG01433.hp2 others(11): Show HG00741.hp1 HG01346.hp1 HG01433.hp2 HG01934.hp1 HG01978.hp1 HG02257.hp2 HG02280.hp2 HG03017.hp1 HG03492.hp1 NA18944.hp2 NA18968.hp1 NA18975.hp2 NA19003.hp2 NA20300.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0010 a0001c0001 a0001c0002 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0002t0001 a0005c0010t0001	a0001c0001t0001g0135 a0001c0001t0001g0243 a0001c0001t0001g0258 others(11): Show a0001c0001t0001g0135 a0001c0001t0001g0243 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0002g0203 a0001c0001t0002g0244 a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0004g0142 a0001c0001t0007g0206 a0001c0002t0001g0241 a0001c0002t0001g0253 a0001c0002t0001g0270 a0005c0010t0001g0237	14	286	0.0490	12	c.220 others(29): Show c.220-6179_220-6168dupATATATATATAT		ADCK1	ENSG00000063761.16	transcript	ENST00000238561.10	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
ADCK1_chr14_77795109_77940014	77852907	A A	ATATATTT others(5): Show ATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0006 a0001c0003t0002g0006	1	286	0.0035	12	c.220 others(29): Show c.220-6168_220-6167insATATTTTTTTTT		ADCK1	ENSG00000063761.16	transcript	ENST00000238561.10	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
ADCK1_chr14_77795109_77940014	77893736	C C	CCTTCCTT others(5): Show CCTTCCTTCCTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(114): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00621.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01071.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01978.hp1 HG01981.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02572.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG04184.hp1 NA18522.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18955.hp2 NA18960.hp1 NA18962.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18971.hp2 NA18975.hp2 NA18984.hp2 NA18991.hp1 NA19003.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19065.hp2 NA19077.hp2 NA19080.hp2 NA19083.hp2 NA19084.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0011 a0002c0015 a0003c0014 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0002t0001 a0001c0002t0010 a0001c0002t0011 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0003t0006 a0001c0003t0012 a0001c0007t0002 a0001c0011t0001 a0002c0015t0001 a0003c0014t0002 a0005c0010t0001	a0001c0001t0001g0055 a0001c0001t0001g0088 a0001c0001t0001g0095 others(114): Show a0001c0001t0001g0055 a0001c0001t0001g0088 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0109 a0001c0001t0001g0123 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0175 a0001c0001t0001g0211 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0249 a0001c0001t0001g0254 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0267 a0001c0001t0001g0272 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0027 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0077 a0001c0001t0002g0132 a0001c0001t0002g0140 a0001c0001t0002g0165 a0001c0001t0002g0181 a0001c0001t0002g0184 a0001c0001t0002g0198 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0205 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0210 a0001c0001t0002g0220 a0001c0001t0002g0223 a0001c0001t0002g0227 a0001c0001t0002g0230 a0001c0001t0002g0232 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0002g0271 a0001c0001t0002g0278 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0003g0071 a0001c0001t0003g0085 a0001c0001t0003g0087 a0001c0001t0003g0136 a0001c0001t0003g0222 a0001c0001t0003g0229 a0001c0001t0004g0142 a0001c0001t0004g0209 a0001c0001t0004g0224 a0001c0001t0007g0206 a0001c0001t0008g0075 a0001c0002t0001g0007 a0001c0002t0001g0016 a0001c0002t0001g0047 a0001c0002t0001g0083 a0001c0002t0001g0086 a0001c0002t0001g0126 a0001c0002t0001g0180 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0212 a0001c0002t0001g0214 a0001c0002t0001g0228 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0239 a0001c0002t0001g0241 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0264 a0001c0002t0001g0270 a0001c0002t0001g0273 a0001c0002t0001g0282 a0001c0002t0010g0084 a0001c0002t0011g0179 a0001c0003t0001g0044 a0001c0003t0002g0012 a0001c0003t0002g0043 a0001c0003t0002g0104 a0001c0003t0002g0168 a0001c0003t0003g0005 a0001c0003t0005g0001 a0001c0003t0005g0015 a0001c0003t0006g0045 a0001c0003t0012g0199 a0001c0007t0002g0204 a0001c0011t0001g0216 a0002c0015t0001g0002 a0003c0014t0002g0187 a0005c0010t0001g0237	117	286	0.4091	12	c.583 others(29): Show c.583-5361_583-5360insCCTTCCTTTCTT		ADCK1	ENSG00000063761.16	transcript	ENST00000238561.10	protein_coding	5/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
ADCK1_chr14_77795109_77940014	77894736	G G	GTTTTTTT others(5): Show GTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0142 a0001c0001t0004g0142	1	286	0.0035	12	c.583 others(29): Show c.583-4347_583-4336dupTTTTTTTTTTTT		ADCK1	ENSG00000063761.16	transcript	ENST00000238561.10	protein_coding	5/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
ADCK1_chr14_77795109_77940014	77905304	G G	GTTTTTTT others(5): Show GTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01070.hp2 HG01071.hp2 others(7): Show HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01109.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp2 HG03710.hp1 NA18967.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 a0001c0001 a0001c0004 a0001c0005	a0001c0001t0002 a0001c0004t0002 a0001c0005t0004 a0001c0001t0002 a0001c0004t0002 a0001c0005t0004	a0001c0001t0002g0042 a0001c0001t0002g0046 a0001c0001t0002g0059 others(7): Show a0001c0001t0002g0042 a0001c0001t0002g0046 a0001c0001t0002g0059 a0001c0001t0002g0091 a0001c0001t0002g0154 a0001c0004t0002g0034 a0001c0004t0002g0040 a0001c0004t0002g0217 a0001c0004t0002g0256 a0001c0005t0004g0200	10	286	0.0350	12	c.742 others(29): Show c.742-2490_742-2479dupTTTTTTTTTTTT		ADCK1	ENSG00000063761.16	transcript	ENST00000238561.10	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
ADCK1_chr14_77795109_77940014	77921326	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG00621.hp1 others(18): Show HG00423.hp1 HG00558.hp1 HG00621.hp1 HG01081.hp2 HG01257.hp2 HG01884.hp1 HG01981.hp1 HG02027.hp2 HG02056.hp2 HG02074.hp1 HG02630.hp1 NA18906.hp2 NA18943.hp1 NA18955.hp2 NA18962.hp2 NA18967.hp1 NA18991.hp1 NA18991.hp2 NA19077.hp2 NA19084.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0003t0005 a0001c0007t0002	a0001c0001t0001g0103 a0001c0001t0002g0030 a0001c0001t0002g0046 others(18): Show a0001c0001t0001g0103 a0001c0001t0002g0030 a0001c0001t0002g0046 a0001c0001t0002g0050 a0001c0001t0002g0063 a0001c0001t0002g0089 a0001c0001t0002g0111 a0001c0001t0002g0131 a0001c0001t0002g0185 a0001c0001t0002g0198 a0001c0001t0002g0210 a0001c0001t0002g0232 a0001c0001t0002g0245 a0001c0001t0002g0275 a0001c0001t0002g0278 a0001c0001t0002g0281 a0001c0001t0006g0078 a0001c0001t0007g0100 a0001c0001t0007g0265 a0001c0003t0005g0001 a0001c0007t0002g0204	21	286	0.0734	12	c.859 others(29): Show c.859-3120_859-3109dupAAAAAAAAAAAA		ADCK1	ENSG00000063761.16	transcript	ENST00000238561.10	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
ADCK2_chr7_140667945_140700110	140677021	T T	TCAAACAA others(5): Show TCAAACAAACAAA	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0160 a0002c0002t0002g0160	1	290	0.0035	12	c.108 others(31): Show c.1081-2109_1081-2098dupCAAACAAACAAA		ADCK2	ENSG00000133597.11	transcript	ENST00000072869.9	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr7	TogoVar
ADCK5_chr8_144369047_144398242	144369453	A A	AAATAATA others(5): Show AAATAATAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00738.hp1 others(44): Show HG00280.hp1 HG00280.hp2 HG00738.hp1 HG01081.hp1 HG01175.hp1 HG01258.hp1 HG01884.hp2 HG01891.hp1 HG01952.hp2 HG01981.hp1 HG02027.hp1 HG02109.hp2 HG02135.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02738.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03209.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03927.hp1 NA18951.hp1 NA18957.hp1 NA18984.hp2 NA19003.hp1 NA19009.hp2 NA19066.hp2 NA19068.hp1 NA19074.hp1 NA19078.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0001c0010 others(4): Show a0001c0001 a0001c0003 a0001c0010 a0001c0012 a0002c0002 a0002c0009 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0003t0001 a0001c0010t0001 a0001c0012t0002 a0002c0002t0001 a0002c0009t0001 a0005c0006t0002	a0001c0001t0001g0029 a0001c0001t0001g0122 a0001c0001t0001g0126 others(37): Show a0001c0001t0001g0029 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0202 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0009 a0001c0001t0002g0017 a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0002g0062 a0001c0001t0002g0068 a0001c0001t0002g0072 a0001c0001t0002g0077 a0001c0001t0002g0092 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0005g0003 a0001c0003t0001g0008 a0001c0003t0001g0015 a0001c0003t0001g0053 a0001c0003t0001g0136 a0001c0010t0001g0041 a0001c0012t0002g0001 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0035 a0002c0002t0001g0146 a0002c0002t0001g0173 a0002c0002t0001g0187 a0002c0002t0001g0191 a0002c0009t0001g0012 a0005c0006t0002g0095 a0005c0006t0002g0099	47	346	0.1358	12	c.-46 others(23): Show c.-4643_-4642insAATAATAATAAT		ADCK5	ENSG00000173137.12	transcript	ENST00000308860.11	protein_coding					4593		chr8	TogoVar
ADCK5_chr8_144369047_144398242	144392414	C C	CCCCTCCC others(5): Show CCCCTCCCTCCCT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02300.hp1 NA21309.hp1 HG02300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0125 a0001c0001t0002g0064 a0001c0001t0001g0125 a0001c0001t0002g0064	2	346	0.0058	12	c.126 others(26): Show c.1268-15_1268-4dupTCCCTCCCTCCC		ADCK5	ENSG00000173137.12	transcript	ENST00000308860.11	protein_coding	12/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
ADCY10_chr1_167804386_167919134	167850697	G G	GTGTGTGT others(5): Show GTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp2 HG02486.hp2 others(2): Show HG02258.hp1 HG02280.hp2 HG02486.hp2 HG03195.hp2 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0002c0001t0003 a0001c0002t0001 a0002c0001t0001 a0002c0001t0003	a0001c0002t0001g0211 a0001c0002t0001g0212 a0002c0001t0001g0033 others(2): Show a0001c0002t0001g0211 a0001c0002t0001g0212 a0002c0001t0001g0033 a0002c0001t0001g0213 a0002c0001t0003g0032	5	326	0.0153	12	c.230 others(31): Show c.2309-2209_2309-2208insTACACACACACA		ADCY10	ENSG00000143199.18	transcript	ENST00000367851.9	protein_coding	18/32						chr1	TogoVar
ADCY10_chr1_167804386_167919134	167853830	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01256.hp1 HG02109.hp2 others(9): Show HG00735.hp1 HG01256.hp1 HG02109.hp2 HG02572.hp2 HG02698.hp1 HG02717.hp2 HG02886.hp1 HG02897.hp1 HG02897.hp2 HG03516.hp2 HG03540.hp1 HG03669.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0017	a0001c0004 a0001c0005 a0001c0014 others(6): Show a0001c0004 a0001c0005 a0001c0014 a0002c0001 a0002c0007 a0003c0009 a0004c0011 a0004c0021 a0017c0036	a0001c0004t0003 a0001c0005t0002 a0001c0014t0001 others(6): Show a0001c0004t0003 a0001c0005t0002 a0001c0014t0001 a0002c0001t0003 a0002c0007t0002 a0003c0009t0003 a0004c0011t0003 a0004c0021t0002 a0017c0036t0001	a0001c0004t0003g0274 a0001c0004t0003g0294 a0001c0005t0002g0240 others(9): Show a0001c0004t0003g0274 a0001c0004t0003g0294 a0001c0005t0002g0240 a0001c0014t0001g0109 a0002c0001t0003g0104 a0002c0007t0002g0029 a0002c0007t0002g0034 a0002c0007t0002g0321 a0003c0009t0003g0300 a0004c0011t0003g0021 a0004c0021t0002g0310 a0017c0036t0001g0175	12	326	0.0368	12	c.230 others(29): Show c.2308+511_2308+522dupAAAAAAAAAAAA		ADCY10	ENSG00000143199.18	transcript	ENST00000367851.9	protein_coding	18/32						chr1	TogoVar
ADCY10_chr1_167804386_167919134	167897997	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03516.hp2 HG03540.hp2 HG02559.hp1 HG03516.hp2 HG03540.hp2	a0001 a0002 a0013 a0001 a0002 a0013	a0001c0004 a0002c0007 a0013c0030 a0001c0004 a0002c0007 a0013c0030	a0001c0004t0003 a0002c0007t0002 a0013c0030t0002 a0001c0004t0003 a0002c0007t0002 a0013c0030t0002	a0001c0004t0003g0294 a0002c0007t0002g0291 a0013c0030t0002g0290 a0001c0004t0003g0294 a0002c0007t0002g0291 a0013c0030t0002g0290	3	326	0.0092	12	c.643 others(29): Show c.643-1318_643-1307dupTTTTTTTTTTTT		ADCY10	ENSG00000143199.18	transcript	ENST00000367851.9	protein_coding	6/32						chr1	TogoVar
ADCY1_chr7_45569368_45728116	45574559	C C	CGCGGCGG others(5): Show CGCGGCGGAGGCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00673.hp1 HG02155.hp2 NA18960.hp2 HG00673.hp1 HG02155.hp2 NA18960.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0002 a0003c0004t0037 a0003c0004t0001 a0003c0004t0002 a0003c0004t0037	a0003c0004t0001g0225 a0003c0004t0002g0136 a0003c0004t0037g0055 a0003c0004t0001g0225 a0003c0004t0002g0136 a0003c0004t0037g0055	3	278	0.0108	12	c.32_ others(17): Show c.32_43dupGCGGAGGCGGCG	p.Gly others(11): Show p.Gly11_Gly14dup	ADCY1	ENSG00000164742.16	transcript	ENST00000297323.12	protein_coding	1/20	220/12657	44/3360	15/1119		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADCY1_chr7_45569368_45728116	45641932	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02056.hp1 HG03927.hp1 others(1): Show HG00609.hp1 HG02056.hp1 HG03927.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0046 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0046 a0001c0001t0072	a0001c0001t0001g0103 a0001c0001t0002g0148 a0001c0001t0046g0072 others(1): Show a0001c0001t0001g0103 a0001c0001t0002g0148 a0001c0001t0046g0072 a0001c0001t0072g0123	4	278	0.0144	12	c.102 others(31): Show c.1021-6735_1021-6724dupAAAAAAAAAAAA		ADCY1	ENSG00000164742.16	transcript	ENST00000297323.12	protein_coding	4/19					INFO_REALIGN_3_PRIME	chr7	TogoVar
ADCY1_chr7_45569368_45728116	45711644	T T	TATATATA others(5): Show TATATATACACAC	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0053 a0001c0001t0006g0053	1	278	0.0036	12	c.305 others(29): Show c.3057+993_3057+994insTATATACACACA		ADCY1	ENSG00000164742.16	transcript	ENST00000297323.12	protein_coding	19/19					INFO_REALIGN_3_PRIME	chr7	TogoVar
ADCY1_chr7_45569368_45728116	45711644	T T	TATATATA others(5): Show TATATATATACAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01168.hp1 HG01496.hp1 others(5): Show HG00423.hp2 HG01168.hp1 HG01496.hp1 HG02083.hp2 NA18957.hp1 NA18994.hp1 NA19001.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0004 a0001c0001t0006 a0001c0001t0024 others(3): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0024 a0001c0001t0028 a0001c0001t0033 a0001c0014t0004	a0001c0001t0004g0067 a0001c0001t0004g0096 a0001c0001t0006g0059 others(5): Show a0001c0001t0004g0067 a0001c0001t0004g0096 a0001c0001t0006g0059 a0001c0001t0024g0206 a0001c0001t0024g0222 a0001c0001t0028g0133 a0001c0001t0033g0043 a0001c0014t0004g0164	8	278	0.0288	12	c.305 others(29): Show c.3057+993_3057+994insTATATATACACA		ADCY1	ENSG00000164742.16	transcript	ENST00000297323.12	protein_coding	19/19					INFO_REALIGN_3_PRIME	chr7	TogoVar
ADCY1_chr7_45569368_45728116	45725391	G G	GGGAAGGA others(5): Show GGGAAGGAAGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00642.hp2 HG00673.hp2 others(19): Show HG00609.hp1 HG00642.hp2 HG00673.hp2 HG01167.hp2 HG01169.hp2 HG01884.hp2 HG02056.hp1 HG02109.hp2 HG02257.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03239.hp1 HG03453.hp1 HG03942.hp2 HG04115.hp2 NA18960.hp2 NA18962.hp2 NA18972.hp2 NA18984.hp2 NA19056.hp1 NA19080.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 others(6): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0022 a0001c0001t0043 a0001c0001t0057 a0001c0001t0072 a0003c0004t0037	a0001c0001t0002g0022 a0001c0001t0002g0063 a0001c0001t0002g0076 others(19): Show a0001c0001t0002g0022 a0001c0001t0002g0063 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0109 a0001c0001t0002g0124 a0001c0001t0002g0148 a0001c0001t0002g0218 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0008g0011 a0001c0001t0008g0013 a0001c0001t0008g0258 a0001c0001t0010g0037 a0001c0001t0013g0166 a0001c0001t0013g0227 a0001c0001t0022g0050 a0001c0001t0043g0146 a0001c0001t0057g0010 a0001c0001t0072g0123 a0003c0004t0037g0055	22	278	0.0791	12	c.11 others(25): Show c.11396_*11397insGGAAGGAAGGAA		ADCY1	ENSG00000164742.16	transcript	ENST00000297323.12	protein_coding					2276		chr7	TogoVar
ADCY2_chr5_7391138_7835081	7459772	A A	ATTTTTTT others(5): Show ATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0120 a0001c0018t0001g0120	1	140	0.0071	12	c.408 others(31): Show c.408+45024_408+45035dupTTTTTTTTTTTT		ADCY2	ENSG00000078295.17	transcript	ENST00000338316.9	protein_coding	2/24					INFO_REALIGN_3_PRIME	chr5	TogoVar

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