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
ASCC1_chr10_72091032_72221276	72127664	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01069.hp1 HG01243.hp2 others(16): Show HG00642.hp1 HG01069.hp1 HG01243.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02486.hp2 HG02559.hp1 HG02965.hp1 HG02976.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03486.hp1 HG03516.hp2 HG03540.hp1 NA18959.hp1 NA19043.hp2 NA19240.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0002 a0009c0009 a0001c0001 a0002c0002 a0009c0009	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0002c0002t0004 a0002c0002t0007 a0009c0009t0007	a0001c0001t0001g0017 a0001c0001t0001g0050 a0001c0001t0001g0081 others(16): Show a0001c0001t0001g0017 a0001c0001t0001g0050 a0001c0001t0001g0081 a0001c0001t0001g0087 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0041 a0001c0001t0003g0042 a0002c0002t0001g0200 a0002c0002t0001g0202 a0002c0002t0004g0172 a0002c0002t0004g0199 a0002c0002t0004g0201 a0002c0002t0004g0205 a0002c0002t0007g0203 a0009c0009t0007g0160	19	216	0.0880	7	c.957 others(22): Show c.957+411_957+417dupAAAAAAA	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	9/9			chr10	TogoVar
ASCC1_chr10_72091032_72221276	72162942	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02257.hp2 HG02486.hp2 others(4): Show HG01069.hp1 HG02257.hp2 HG02486.hp2 HG02965.hp1 HG03130.hp2 NA19043.hp2 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0007 a0002c0002t0001 a0002c0002t0004 a0002c0002t0007	a0002c0002t0001g0200 a0002c0002t0001g0202 a0002c0002t0004g0172 others(4): Show a0002c0002t0001g0200 a0002c0002t0001g0202 a0002c0002t0004g0172 a0002c0002t0004g0199 a0002c0002t0004g0201 a0002c0002t0004g0205 a0002c0002t0007g0203	7	216	0.0324	7	c.490 others(24): Show c.490-1275_490-1269dupTTTTTTT	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	5/9			chr10	TogoVar
ASCC1_chr10_72091032_72221276	72189802	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02040.hp1 HG02257.hp2 others(4): Show HG00438.hp2 HG02040.hp1 HG02257.hp2 HG02486.hp2 HG03516.hp1 NA18943.hp1 NA18971.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0007	a0002c0002t0001g0165 a0002c0002t0001g0171 a0002c0002t0001g0177 others(4): Show a0002c0002t0001g0165 a0002c0002t0001g0171 a0002c0002t0001g0177 a0002c0002t0001g0183 a0002c0002t0002g0175 a0002c0002t0004g0201 a0002c0002t0007g0203	7	216	0.0324	7	c.489 others(24): Show c.489+7002_489+7008dupTTTTTTT	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	5/9			chr10	TogoVar
ASCC1_chr10_72091032_72221276	72198284	A A	AGGGGGAG AGGGGGAG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01433.hp2 HG02486.hp1 others(19): Show HG01346.hp1 HG01433.hp2 HG02486.hp1 HG02572.hp1 HG02615.hp2 HG02723.hp2 HG02818.hp1 HG02895.hp2 HG02922.hp2 HG02970.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03453.hp2 HG03471.hp1 HG03540.hp1 HG03579.hp2 HG06807.hp2 NA18522.hp1 NA19030.hp2 NA19043.hp1 NA20752.hp2	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0001 a0003c0003 a0009c0009 a0001c0001 a0003c0003 a0009c0009	a0001c0001t0001 a0001c0001t0002 a0003c0003t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0003c0003t0002 a0009c0009t0007	a0001c0001t0001g0018 a0001c0001t0001g0032 a0001c0001t0001g0145 others(19): Show a0001c0001t0001g0018 a0001c0001t0001g0032 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0045 a0001c0001t0002g0143 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0002g0155 a0003c0003t0002g0144 a0003c0003t0002g0153 a0003c0003t0002g0156 a0009c0009t0007g0160	22	216	0.1019	7	c.311 others(24): Show c.311-1296_311-1295insCTCCCCC	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ASCC1_chr10_72091032_72221276	72220325	C C	CAAAAAAA CAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02486.hp2 HG03130.hp2 others(2): Show HG02257.hp2 HG02486.hp2 HG03130.hp2 NA19043.hp2 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0007 a0002c0002t0001 a0002c0002t0004 a0002c0002t0007	a0002c0002t0001g0202 a0002c0002t0004g0199 a0002c0002t0004g0201 others(2): Show a0002c0002t0001g0202 a0002c0002t0004g0199 a0002c0002t0004g0201 a0002c0002t0004g0205 a0002c0002t0007g0203	5	216	0.0232	7	c.-41 others(18): Show c.-4159_-4153dupTTTTTTT	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding		4050		chr10	TogoVar
ASCC3_chr6_100503194_100886329	100608731	T T	TATATATA TATATATA	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18966.hp1 NA18998.hp2 others(1): Show NA18946.hp2 NA18966.hp1 NA18998.hp2 NA19060.hp1	a0002 a0004 a0002 a0004	a0002c0003 a0004c0008 a0002c0003 a0004c0008	a0002c0003t0002 a0004c0008t0003 a0002c0003t0002 a0004c0008t0003	a0002c0003t0002g0015 a0002c0003t0002g0026 a0002c0003t0002g0042 others(1): Show a0002c0003t0002g0015 a0002c0003t0002g0026 a0002c0003t0002g0042 a0004c0008t0003g0057	4	314	0.0127	7	c.478 others(26): Show c.4786-1644_4786-1643insTATATAT	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100675130	G G	GTTTTTTT GTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01081.hp2 HG01361.hp2 others(17): Show HG00438.hp2 HG01081.hp2 HG01361.hp2 HG01952.hp1 HG01978.hp2 HG02071.hp2 HG02080.hp1 HG02602.hp2 HG03831.hp2 HG04184.hp2 HG04199.hp2 NA18747.hp2 NA18945.hp1 NA18955.hp1 NA18973.hp1 NA18974.hp1 NA18977.hp2 NA19002.hp1 NA19065.hp2 NA19070.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0172 a0003c0004t0004g0173 a0003c0004t0004g0174 others(17): Show a0003c0004t0004g0172 a0003c0004t0004g0173 a0003c0004t0004g0174 a0003c0004t0004g0175 a0003c0004t0004g0176 a0003c0004t0004g0177 a0003c0004t0004g0179 a0003c0004t0004g0180 a0003c0004t0004g0182 a0003c0004t0004g0184 a0003c0004t0004g0185 a0003c0004t0004g0187 a0003c0004t0004g0189 a0003c0004t0004g0190 a0003c0004t0004g0191 a0003c0004t0004g0193 a0003c0004t0004g0194 a0003c0004t0004g0195 a0003c0004t0004g0199 a0003c0004t0004g0200	20	314	0.0637	7	c.228 others(26): Show c.2286+4481_2286+4487dupAAAAAAA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	14/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100723902	A A	ATATATAT ATATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02602.hp2 NA18747.hp2 others(2): Show HG01952.hp1 HG02602.hp2 NA18747.hp2 NA18977.hp2 NA19065.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0177 a0003c0004t0004g0179 a0003c0004t0004g0182 others(2): Show a0003c0004t0004g0177 a0003c0004t0004g0179 a0003c0004t0004g0182 a0003c0004t0004g0189 a0003c0004t0004g0190	5	314	0.0159	7	c.190 others(26): Show c.1902+1636_1902+1637insATATATA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	11/41			chr6	TogoVar
ASGR2_chr17_7096326_7119822	7116869	A A	ATTTTTTT ATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG00639.hp1 others(86): Show HG00544.hp1 HG00544.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01261.hp1 HG01358.hp2 HG01515.hp2 HG01978.hp2 HG01993.hp2 HG02055.hp1 HG02056.hp1 HG02074.hp2 HG02129.hp1 HG02135.hp2 HG02155.hp2 HG02280.hp1 HG02572.hp1 HG02647.hp1 HG02698.hp1 HG02738.hp2 HG02818.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04204.hp2 HG04228.hp1 NA18747.hp1 NA18939.hp1 NA18944.hp1 NA18945.hp1 NA18954.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18965.hp1 NA18967.hp1 NA18968.hp2 NA18983.hp1 NA18990.hp2 NA18995.hp2 NA18997.hp2 NA19000.hp1 NA19004.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19062.hp1 NA19064.hp2 NA19067.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19080.hp2 NA19085.hp2 NA19089.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0010 a0001c0016 a0002c0007 a0003c0013 a0005c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0014 a0001c0002t0003 a0001c0002t0008 a0001c0002t0011 a0001c0003t0001 a0001c0004t0007 a0001c0005t0001 a0001c0010t0009 a0001c0016t0003 a0002c0007t0001 a0003c0013t0001 a0005c0014t0003	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0014 others(71): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0150 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0002g0002 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0115 a0001c0001t0003g0047 a0001c0001t0003g0281 a0001c0001t0003g0283 a0001c0001t0003g0285 a0001c0001t0003g0294 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0010g0317 a0001c0001t0014g0295 a0001c0002t0003g0019 a0001c0002t0003g0046 a0001c0002t0003g0280 a0001c0002t0003g0282 a0001c0002t0003g0284 a0001c0002t0003g0287 a0001c0002t0003g0288 a0001c0002t0003g0291 a0001c0002t0003g0296 a0001c0002t0003g0298 a0001c0002t0008g0292 a0001c0002t0011g0051 a0001c0003t0001g0012 a0001c0003t0001g0185 a0001c0003t0001g0189 a0001c0003t0001g0190 a0001c0003t0001g0203 a0001c0004t0007g0015 a0001c0004t0007g0206 a0001c0004t0007g0207 a0001c0005t0001g0013 a0001c0005t0001g0197 a0001c0010t0009g0168 a0001c0010t0009g0169 a0001c0016t0003g0301 a0002c0007t0001g0127 a0003c0013t0001g0198 a0005c0014t0003g0293	89	432	0.2060	7	c.-23 others(18): Show c.-2326_-2325insAAAAAAA	ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding		2048		chr17	TogoVar
ASIC2_chr17_33008087_33298295	33108911	A A	AAATCCAT AAATCCAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00621.hp1 HG00741.hp2 others(32): Show HG00280.hp1 HG00621.hp1 HG00741.hp2 HG01261.hp1 HG01358.hp1 HG01496.hp2 HG01934.hp1 HG01952.hp2 HG02055.hp1 HG02109.hp1 HG02132.hp2 HG02258.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02738.hp1 HG02922.hp1 HG02965.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp2 HG03516.hp2 HG03579.hp1 HG03704.hp1 HG03942.hp2 HG04115.hp2 NA18906.hp1 NA18944.hp1 NA18970.hp1 NA18985.hp1 NA19004.hp1 NA19070.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0002c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(15): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0010 a0001c0002t0017 a0001c0002t0032 a0001c0004t0001 a0001c0004t0005 a0001c0004t0010 a0001c0007t0003 a0002c0003t0001 a0002c0003t0005 a0002c0003t0018	a0001c0001t0003g0058 a0001c0001t0004g0011 a0001c0001t0004g0062 others(32): Show a0001c0001t0003g0058 a0001c0001t0004g0011 a0001c0001t0004g0062 a0001c0001t0006g0025 a0001c0001t0007g0227 a0001c0001t0007g0230 a0001c0001t0007g0233 a0001c0001t0011g0002 a0001c0001t0011g0003 a0001c0001t0011g0004 a0001c0002t0001g0118 a0001c0002t0001g0120 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0122 a0001c0002t0002g0135 a0001c0002t0002g0137 a0001c0002t0002g0138 a0001c0002t0005g0094 a0001c0002t0010g0134 a0001c0002t0017g0109 a0001c0002t0032g0223 a0001c0004t0001g0141 a0001c0004t0001g0157 a0001c0004t0001g0158 a0001c0004t0001g0159 a0001c0004t0001g0174 a0001c0004t0005g0144 a0001c0004t0005g0146 a0001c0004t0010g0145 a0001c0007t0003g0048 a0002c0003t0001g0198 a0002c0003t0001g0199 a0002c0003t0005g0210 a0002c0003t0018g0185	35	240	0.1458	7	c.859 others(24): Show c.859+2999_859+3005dupATGGATT	ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	2/9			chr17	TogoVar
ASIP_chr20_34236423_34274344	34246986	T T	TTTTTTTG TTTTTTTG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02723.hp2 HG02886.hp1 others(1): Show HG02630.hp1 HG02723.hp2 HG02886.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0195 a0001c0001t0002g0196 others(1): Show a0001c0001t0002g0058 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197	4	306	0.0131	7	c.-11 others(24): Show c.-11+5516_-11+5522dupTTGTTTT	ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASMTL_chrX_1398139_1457909	1401554	A A	AATATAGG AATATAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0078 a0002c0004t0001g0078	1	185	0.0054	7	c.17 others(18): Show c.1714_*1715insCCTATAT	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding		1584		chrX	TogoVar
ASMT_chrX_1610059_1648081	1625954	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01891.hp1 HG02630.hp1 others(8): Show HG01070.hp2 HG01891.hp1 HG02630.hp1 HG02723.hp1 HG02809.hp2 HG02976.hp1 HG03453.hp1 HG03516.hp1 HG06807.hp1 NA18906.hp1 NA18950.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0014 a0001c0001t0001g0086 a0001c0001t0001g0204 others(8): Show a0001c0001t0001g0014 a0001c0001t0001g0086 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0003t0001g0022 a0002c0002t0001g0002 a0002c0002t0001g0069 a0002c0002t0001g0210 a0002c0002t0001g0221 a0002c0002t0002g0159	11	223	0.0493	7	c.374 others(24): Show c.374+1569_374+1575dupAAAAAAA	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1636410	A A	ACCTCGTG ACCTCGTG	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0002 a0010c0015t0002	a0010c0015t0002g0179 a0010c0015t0002g0179	1	223	0.0045	7	c.788 others(20): Show c.788-23_788-22insTGCCTCG	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1644219	T T	TATTATTA TATTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	223	0.0045	7	c.12 others(18): Show c.1205_*1206insATTATTA	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding		1139		chrX	TogoVar
ASMT_chrX_1610059_1648081	1644219	T T	TTTTATTA TTTTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG04204.hp2 NA18975.hp1 HG01168.hp1 HG04204.hp2 NA18975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0066 a0002c0002t0001g0087 a0002c0002t0002g0096 a0002c0002t0001g0066 a0002c0002t0001g0087 a0002c0002t0002g0096	3	223	0.0135	7	c.12 others(18): Show c.1205_*1206insTTTATTA	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding		1139		chrX	TogoVar
ASRGL1_chr11_62332448_62398412	62338932	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01517.hp1 HG02004.hp1 others(19): Show HG01175.hp1 HG01517.hp1 HG02004.hp1 HG02055.hp2 HG02080.hp2 HG02129.hp1 HG02698.hp1 HG03139.hp2 HG03195.hp1 HG03540.hp2 HG06807.hp2 NA18612.hp2 NA18945.hp2 NA18949.hp2 NA18994.hp1 NA19000.hp2 NA19002.hp1 NA19009.hp1 NA19010.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0001t0031	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(19): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0002g0003 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0199 a0001c0001t0006g0196 a0001c0001t0012g0194 a0001c0001t0012g0195 a0001c0001t0012g0197 a0001c0001t0012g0198 a0001c0001t0031g0016	22	370	0.0595	7	c.190 others(22): Show c.190+776_190+782dupAAAAAAA	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASRGL1_chr11_62332448_62398412	62362518	T T	TATATAAA TATATAAA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02165.hp1 NA18960.hp1 HG02135.hp1 HG02165.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0008t0001g0011 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0008t0001g0011	3	370	0.0081	7	c.491 others(24): Show c.491+5376_491+5377insATAAAAT	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASRGL1_chr11_62332448_62398412	62362629	A A	AAATATAT AAATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 NA19001.hp2 HG01168.hp2 HG01169.hp1 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0224 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0224 a0001c0001t0002g0231 a0001c0001t0002g0232	3	370	0.0081	7	c.491 others(24): Show c.491+5487_491+5493dupATATATA	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASRGL1_chr11_62332448_62398412	62382244	G G	GGTGCTCA GGTGCTCA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02622.hp1 HG02630.hp2 others(4): Show HG02056.hp1 HG02622.hp1 HG02630.hp2 HG02723.hp2 HG02970.hp2 NA18939.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0004 a0001c0001 a0001c0005 a0002c0004	a0001c0001t0021 a0001c0001t0038 a0001c0005t0040 others(3): Show a0001c0001t0021 a0001c0001t0038 a0001c0005t0040 a0001c0005t0041 a0002c0004t0034 a0002c0004t0035	a0001c0001t0021g0335 a0001c0001t0021g0337 a0001c0001t0038g0338 others(4): Show a0001c0001t0021g0335 a0001c0001t0021g0337 a0001c0001t0038g0338 a0001c0005t0040g0314 a0001c0005t0041g0313 a0002c0004t0034g0184 a0002c0004t0035g0183	7	370	0.0189	7	c.492 others(24): Show c.492-6887_492-6881dupTGCTCAG	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASS1_chr9_130439961_130506274	130504375	T T	TAAAAATA TAAAAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02809.hp2 HG02970.hp2 others(2): Show HG02615.hp2 HG02809.hp2 HG02970.hp2 HG03225.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0136 a0001c0001t0001g0163 others(2): Show a0001c0001t0001g0100 a0001c0001t0001g0136 a0001c0001t0001g0163 a0001c0001t0001g0194 a0001c0001t0001g0334	5	374	0.0134	7	c.33 others(18): Show c.3354_*3355insAAAAATA	ASS1	ENSG00000130707.18	transcript	ENST00000352480.10	protein_coding		3102		chr9	TogoVar
ASTN1_chr1_176856067_177169712	177070585	G G	GTATCTAT GTATCTAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(108): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01123.hp1 HG01123.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01346.hp1 HG01346.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03579.hp1 HG03579.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18952.hp1 NA18952.hp2 NA18960.hp1 NA18960.hp2 NA18974.hp1 NA18974.hp2 NA18981.hp1 NA18981.hp2 NA19062.hp1 NA19062.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0009 a0001c0012 a0002c0004 a0002c0007 a0002c0008 a0002c0011 a0002c0014 a0003c0010 a0004c0015 a0005c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(38): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0017 a0001c0001t0018 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0011 a0001c0002t0014 a0001c0002t0015 a0001c0002t0020 a0001c0003t0001 a0001c0003t0002 a0001c0003t0008 a0001c0003t0012 a0001c0003t0013 a0001c0003t0019 a0001c0005t0004 a0001c0005t0005 a0001c0006t0001 a0001c0006t0002 a0001c0006t0010 a0001c0006t0011 a0001c0009t0004 a0001c0009t0005 a0001c0012t0004 a0001c0012t0005 a0002c0004t0003 a0002c0007t0001 a0002c0007t0016 a0002c0008t0001 a0002c0008t0003 a0002c0011t0001 a0002c0011t0009 a0002c0014t0009 a0003c0010t0006 a0004c0015t0001 a0005c0013t0001	a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0023 others(108): Show a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0088 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0002g0012 a0001c0001t0002g0021 a0001c0001t0002g0033 a0001c0001t0002g0041 a0001c0001t0002g0051 a0001c0001t0007g0099 a0001c0001t0008g0086 a0001c0001t0010g0101 a0001c0001t0017g0022 a0001c0001t0018g0054 a0001c0002t0001g0008 a0001c0002t0001g0029 a0001c0002t0002g0013 a0001c0002t0002g0019 a0001c0002t0002g0032 a0001c0002t0002g0047 a0001c0002t0002g0053 a0001c0002t0002g0068 a0001c0002t0002g0070 a0001c0002t0002g0084 a0001c0002t0002g0108 a0001c0002t0007g0020 a0001c0002t0007g0069 a0001c0002t0007g0075 a0001c0002t0007g0082 a0001c0002t0011g0009 a0001c0002t0014g0004 a0001c0002t0015g0039 a0001c0002t0020g0007 a0001c0003t0001g0002 a0001c0003t0001g0034 a0001c0003t0001g0109 a0001c0003t0002g0018 a0001c0003t0002g0036 a0001c0003t0002g0064 a0001c0003t0002g0067 a0001c0003t0002g0074 a0001c0003t0002g0079 a0001c0003t0002g0081 a0001c0003t0002g0100 a0001c0003t0008g0062 a0001c0003t0008g0091 a0001c0003t0008g0104 a0001c0003t0012g0087 a0001c0003t0013g0096 a0001c0003t0019g0073 a0001c0005t0004g0072 a0001c0005t0004g0076 a0001c0005t0004g0077 a0001c0005t0004g0085 a0001c0005t0005g0059 a0001c0005t0005g0102 a0001c0006t0001g0063 a0001c0006t0002g0037 a0001c0006t0002g0044 a0001c0006t0010g0027 a0001c0006t0011g0111 a0001c0009t0004g0005 a0001c0009t0004g0006 a0001c0009t0004g0024 a0001c0009t0005g0025 a0001c0009t0005g0080 a0001c0012t0004g0010 a0001c0012t0005g0045 a0002c0004t0003g0042 a0002c0004t0003g0057 a0002c0004t0003g0060 a0002c0004t0003g0061 a0002c0004t0003g0065 a0002c0004t0003g0089 a0002c0004t0003g0090 a0002c0004t0003g0092 a0002c0004t0003g0093 a0002c0004t0003g0095 a0002c0004t0003g0097 a0002c0004t0003g0103 a0002c0007t0001g0011 a0002c0007t0001g0046 a0002c0007t0001g0071 a0002c0007t0001g0105 a0002c0007t0016g0066 a0002c0008t0001g0098 a0002c0008t0003g0017 a0002c0008t0003g0056 a0002c0008t0003g0094 a0002c0011t0001g0015 a0002c0011t0009g0003 a0002c0011t0009g0040 a0002c0014t0009g0078 a0003c0010t0006g0030 a0003c0010t0006g0031 a0003c0010t0006g0038 a0003c0010t0006g0043 a0003c0010t0006g0106 a0004c0015t0001g0052 a0005c0013t0001g0001	111	112	0.9911	7	c.284 others(24): Show c.284-9321_284-9320insATAGATA	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	1/22			chr1	TogoVar
ASTN2_chr9_116418112_117420057	116632205	A A	AAAGAAAG AAAGAAAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01099.hp1 HG01243.hp1 others(6): Show HG00735.hp1 HG01099.hp1 HG01243.hp1 HG01891.hp2 HG02615.hp1 HG03041.hp2 HG03209.hp2 HG04199.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0017 a0003c0019	a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 a0001c0003t0007 a0001c0007t0001 a0001c0017t0002 a0003c0019t0002	a0001c0001t0001g0099 a0001c0001t0006g0014 a0001c0001t0006g0016 others(6): Show a0001c0001t0001g0099 a0001c0001t0006g0014 a0001c0001t0006g0016 a0001c0002t0002g0046 a0001c0002t0002g0061 a0001c0003t0007g0071 a0001c0007t0001g0011 a0001c0017t0002g0089 a0003c0019t0002g0025	9	102	0.0882	7	c.307 others(28): Show c.3073-11763_3073-11762insCTTTCTT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	17/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116642132	C C	CCAAAAAA CCAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA19030.hp1 HG00735.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0001 a0001c0007t0001 a0001c0002t0001 a0001c0007t0001	a0001c0002t0001g0036 a0001c0007t0001g0011 a0001c0002t0001g0036 a0001c0007t0001g0011	2	102	0.0196	7	c.307 others(26): Show c.3072+9395_3072+9396insTTTTTTG	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	17/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116726731	A A	ACATGGGG ACATGGGG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG03130.hp1 others(1): Show HG01109.hp2 HG01884.hp1 HG03130.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0021 others(1): Show a0001c0001 a0001c0003 a0001c0021 a0002c0004	a0001c0001t0011 a0001c0003t0006 a0001c0021t0006 others(1): Show a0001c0001t0011 a0001c0003t0006 a0001c0021t0006 a0002c0004t0006	a0001c0001t0011g0002 a0001c0003t0006g0026 a0001c0021t0006g0056 others(1): Show a0001c0001t0011g0002 a0001c0003t0006g0026 a0001c0021t0006g0056 a0002c0004t0006g0003	4	102	0.0392	7	c.262 others(24): Show c.2627-788_2627-782dupCCCCATG	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	15/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116775806	A A	AGGAGGAG AGGAGGAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01109.hp1 HG01243.hp1 others(6): Show HG00099.hp1 HG01109.hp1 HG01243.hp1 HG02572.hp1 HG02886.hp1 HG03139.hp1 NA19011.hp1 NA19065.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0013	a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(5): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0002t0002 a0001c0003t0001 a0001c0003t0004 a0001c0003t0010 a0001c0013t0009	a0001c0001t0003g0013 a0001c0001t0003g0063 a0001c0001t0006g0016 others(6): Show a0001c0001t0003g0013 a0001c0001t0003g0063 a0001c0001t0006g0016 a0001c0001t0008g0008 a0001c0002t0002g0061 a0001c0003t0001g0055 a0001c0003t0004g0085 a0001c0003t0010g0052 a0001c0013t0009g0072	9	102	0.0882	7	c.239 others(28): Show c.2396+29825_2396+29826insCTCCTCC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	13/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116790955	A A	AAAGAAAG AAAGAAAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03130.hp1 HG03471.hp2 others(1): Show HG01884.hp2 HG03130.hp1 HG03471.hp2 NA19012.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0021 a0001c0025 others(1): Show a0001c0002 a0001c0021 a0001c0025 a0002c0004	a0001c0002t0004 a0001c0021t0006 a0001c0025t0001 others(1): Show a0001c0002t0004 a0001c0021t0006 a0001c0025t0001 a0002c0004t0001	a0001c0002t0004g0043 a0001c0021t0006g0056 a0001c0025t0001g0080 others(1): Show a0001c0002t0004g0043 a0001c0021t0006g0056 a0001c0025t0001g0080 a0002c0004t0001g0004	4	102	0.0392	7	c.239 others(28): Show c.2396+14676_2396+14677insCTTTCTT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	13/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117016611	T T	TATGTTAC TATGTTAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02572.hp2 HG02886.hp2 others(3): Show HG02559.hp1 HG02572.hp2 HG02886.hp2 HG02965.hp2 NA19030.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0011 a0001c0014 others(1): Show a0001c0001 a0001c0011 a0001c0014 a0002c0004	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0011t0004 a0001c0014t0017 a0002c0004t0006	a0001c0001t0001g0100 a0001c0001t0006g0079 a0001c0001t0007g0087 others(3): Show a0001c0001t0001g0100 a0001c0001t0006g0079 a0001c0001t0007g0087 a0001c0011t0004g0097 a0001c0014t0017g0050 a0002c0004t0006g0003	6	102	0.0588	7	c.142 others(26): Show c.1424-8353_1424-8352insGTAACAT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	6/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117048963	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02809.hp2 HG03471.hp2 others(1): Show HG01496.hp1 HG02809.hp2 HG03471.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0002t0001 a0001c0003t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0002 a0002c0004t0001	a0001c0001t0001g0015 a0001c0002t0001g0036 a0001c0003t0002g0044 others(1): Show a0001c0001t0001g0015 a0001c0002t0001g0036 a0001c0003t0002g0044 a0002c0004t0001g0004	4	102	0.0392	7	c.127 others(26): Show c.1277-9005_1277-8999dupAAAAAAA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	5/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117060510	A A	AAGGAAGG AAGGAAGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp2 HG02615.hp1 others(2): Show HG01884.hp2 HG02451.hp2 HG02615.hp1 HG03130.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0008 others(1): Show a0001c0001 a0001c0003 a0001c0008 a0001c0025	a0001c0001t0005 a0001c0001t0006 a0001c0003t0007 others(2): Show a0001c0001t0005 a0001c0001t0006 a0001c0003t0007 a0001c0008t0005 a0001c0025t0001	a0001c0001t0005g0077 a0001c0001t0006g0079 a0001c0003t0007g0071 others(2): Show a0001c0001t0005g0077 a0001c0001t0006g0079 a0001c0003t0007g0071 a0001c0008t0005g0081 a0001c0025t0001g0080	5	102	0.0490	7	c.127 others(28): Show c.1277-20546_1277-20545insCCTTCCT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	5/22			chr9	TogoVar
ASXL1_chr20_32353331_32444319	32397250	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02572.hp2 HG02723.hp2 others(5): Show HG02559.hp2 HG02572.hp2 HG02723.hp2 HG04199.hp2 NA18948.hp1 NA18988.hp2 NA19077.hp2 NA19088.hp2	a0001 a0008 a0001 a0008	a0001c0002 a0008c0011 a0001c0002 a0008c0011	a0001c0002t0002 a0001c0002t0005 a0008c0011t0002 a0001c0002t0002 a0001c0002t0005 a0008c0011t0002	a0001c0002t0002g0198 a0001c0002t0002g0237 a0001c0002t0002g0242 others(5): Show a0001c0002t0002g0198 a0001c0002t0002g0237 a0001c0002t0002g0242 a0001c0002t0002g0279 a0001c0002t0005g0280 a0008c0011t0002g0271 a0008c0011t0002g0273 a0008c0011t0002g0274	8	282	0.0284	7	c.252 others(26): Show c.252+28152_252+28158dupTTTTTTT	ASXL1	ENSG00000171456.22	transcript	ENST00000375687.10	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASXL2_chr2_25728753_25883487	25843814	T T	TAAAAAAA TAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02602.hp2 HG02647.hp2 others(4): Show HG02109.hp1 HG02602.hp2 HG02647.hp2 HG02698.hp2 HG02922.hp2 HG02970.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0019 a0001c0001t0005 a0001c0001t0019	a0001c0001t0005g0213 a0001c0001t0005g0215 a0001c0001t0005g0216 others(4): Show a0001c0001t0005g0213 a0001c0001t0005g0215 a0001c0001t0005g0216 a0001c0001t0005g0217 a0001c0001t0005g0218 a0001c0001t0019g0219 a0001c0001t0019g0220	7	222	0.0315	7	c.140 others(24): Show c.140+1660_140+1666dupTTTTTTT	ASXL2	ENSG00000143970.18	transcript	ENST00000435504.9	protein_coding	2/12			chr2	TogoVar
ASXL2_chr2_25728753_25883487	25856363	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01433.hp1 HG02109.hp1 others(18): Show HG01109.hp2 HG01433.hp1 HG02109.hp1 HG02129.hp1 HG02145.hp1 HG02145.hp2 HG02559.hp1 HG02698.hp2 HG02809.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03139.hp1 HG03225.hp1 HG03486.hp2 HG03654.hp1 NA19043.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0014 others(6): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0040 a0001c0001t0041 a0002c0002t0006 a0002c0003t0008	a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0127 others(18): Show a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0127 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0005g0213 a0001c0001t0005g0214 a0001c0001t0005g0215 a0001c0001t0005g0217 a0001c0001t0014g0048 a0001c0001t0016g0001 a0001c0001t0019g0220 a0001c0001t0040g0102 a0001c0001t0041g0140 a0002c0002t0006g0060 a0002c0003t0008g0079	21	222	0.0946	7	c.58- others(24): Show c.58-10807_58-10801dupAAAAAAA	ASXL2	ENSG00000143970.18	transcript	ENST00000435504.9	protein_coding	1/12			chr2	TogoVar
ASXL3_chr18_33573219_33756195	33713341	A A	ACCCCCCC ACCCCCCC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01943.hp2 HG02109.hp1 others(9): Show HG01071.hp1 HG01943.hp2 HG02109.hp1 HG02129.hp1 HG02148.hp1 HG02602.hp1 HG02738.hp1 HG03017.hp2 HG03669.hp1 NA18970.hp2 NA19003.hp2 NA19076.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0016 a0004c0004 a0001c0001 a0001c0016 a0004c0004	a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 others(4): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 a0001c0001t0053 a0001c0001t0060 a0001c0016t0062 a0004c0004t0013	a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0006g0090 others(9): Show a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0006g0090 a0001c0001t0006g0203 a0001c0001t0006g0217 a0001c0001t0014g0199 a0001c0001t0014g0201 a0001c0001t0014g0212 a0001c0001t0053g0102 a0001c0001t0060g0193 a0001c0016t0062g0200 a0004c0004t0013g0202	12	220	0.0546	7	c.880 others(26): Show c.880-18624_880-18618dupCCCCCCC	ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATAD1_chr10_87746512_87823226	87819263	C C	CAAAAAAA CAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG01106.hp2 HG03471.hp1 others(7): Show HG00408.hp1 HG01106.hp2 HG03471.hp1 HG04184.hp2 HG04228.hp2 NA18967.hp2 NA18977.hp1 NA18984.hp1 NA18988.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0273 a0001c0001t0002g0119 a0001c0001t0002g0120 others(7): Show a0001c0001t0001g0273 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0003g0054 a0001c0001t0003g0063 a0001c0001t0003g0065 a0001c0001t0003g0090 a0001c0001t0003g0100 a0001c0001t0003g0111	10	360	0.0278	7	c.-11 others(18): Show c.-1117_-1111dupTTTTTTT	ATAD1	ENSG00000138138.14	transcript	ENST00000680024.1	protein_coding		1038		chr10	TogoVar
ATAD2B_chr2_23743664_23932123	23745422	A A	AAGGAAGG AAGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01891.hp1 HG03654.hp2 others(1): Show HG01070.hp1 HG01891.hp1 HG03654.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0016 a0001c0001 a0001c0006 a0001c0016	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0001c0016t0001	a0001c0001t0001g0175 a0001c0001t0002g0069 a0001c0006t0001g0181 others(1): Show a0001c0001t0001g0175 a0001c0001t0002g0069 a0001c0006t0001g0181 a0001c0016t0001g0178	4	246	0.0163	7	c.66 others(18): Show c.6623_*6624insCCTTCCT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding		3241		chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23805795	T T	TAAAAAAA TAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp2 HG01074.hp2 others(21): Show HG00735.hp1 HG00741.hp2 HG01074.hp2 HG01168.hp2 HG01243.hp1 HG01257.hp2 HG01433.hp1 HG02080.hp2 HG02129.hp2 HG02165.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02818.hp1 HG02886.hp1 HG03041.hp2 HG03490.hp1 HG03492.hp1 HG03688.hp2 HG03710.hp1 HG03834.hp1 NA18986.hp2 NA19086.hp2 NA20905.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0004c0007	a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 others(4): Show a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 a0001c0002t0012 a0002c0003t0001 a0004c0007t0002	a0001c0001t0003g0107 a0001c0001t0003g0224 a0001c0002t0001g0238 others(21): Show a0001c0001t0003g0107 a0001c0001t0003g0224 a0001c0002t0001g0238 a0001c0002t0003g0225 a0001c0002t0003g0226 a0001c0002t0003g0227 a0001c0002t0003g0228 a0001c0002t0003g0229 a0001c0002t0003g0230 a0001c0002t0003g0231 a0001c0002t0003g0232 a0001c0002t0003g0234 a0001c0002t0003g0235 a0001c0002t0003g0236 a0001c0002t0003g0237 a0001c0002t0003g0240 a0001c0002t0003g0241 a0001c0002t0003g0242 a0001c0002t0003g0245 a0001c0002t0007g0243 a0001c0002t0007g0244 a0001c0002t0012g0233 a0002c0003t0001g0133 a0004c0007t0002g0062	24	246	0.0976	7	c.245 others(26): Show c.2454+4514_2454+4520dupTTTTTTT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	18/27			chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23805806	A A	AAAAAAAC AAAAAAAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(80): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00544.hp1 HG00642.hp1 HG00733.hp1 HG00738.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01261.hp1 HG01358.hp2 HG01517.hp2 HG01891.hp1 HG02027.hp1 HG02040.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02135.hp2 HG02145.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02572.hp1 HG02818.hp2 HG02895.hp2 HG02970.hp1 HG03017.hp1 HG03209.hp1 HG03239.hp1 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG03540.hp1 HG03579.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18906.hp2 NA18943.hp2 NA18949.hp1 NA18952.hp2 NA18955.hp1 NA18956.hp2 NA18963.hp1 NA18974.hp2 NA18979.hp2 NA18980.hp1 NA18984.hp1 NA18986.hp1 NA18990.hp2 NA19000.hp2 NA19001.hp1 NA19003.hp2 NA19004.hp2 NA19006.hp2 NA19011.hp1 NA19030.hp1 NA19057.hp2 NA19079.hp1 NA19083.hp1 NA19086.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp2	a0001 a0004 a0007 others(2): Show a0001 a0004 a0007 a0009 a0010	a0001c0001 a0001c0008 a0001c0015 others(4): Show a0001c0001 a0001c0008 a0001c0015 a0004c0007 a0007c0010 a0009c0014 a0010c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0008t0002 a0001c0015t0002 a0004c0007t0002 a0007c0010t0002 a0009c0014t0002 a0010c0009t0002	a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0073 others(80): Show a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0073 a0001c0001t0001g0095 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0094 a0001c0001t0002g0106 a0001c0001t0005g0058 a0001c0001t0005g0090 a0001c0001t0005g0091 a0001c0001t0005g0092 a0001c0001t0005g0093 a0001c0001t0005g0099 a0001c0001t0009g0002 a0001c0001t0010g0053 a0001c0001t0014g0098 a0001c0008t0002g0003 a0001c0015t0002g0079 a0004c0007t0002g0050 a0007c0010t0002g0083 a0009c0014t0002g0057 a0010c0009t0002g0004	83	246	0.3374	7	c.245 others(26): Show c.2454+4509_2454+4510insGTTTTTT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	18/27			chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23862401	G G	GTTTTTTT GTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01255.hp2 HG01261.hp2 others(5): Show HG01167.hp1 HG01255.hp2 HG01261.hp2 HG01361.hp1 HG03942.hp2 NA18963.hp2 NA18980.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0158 a0001c0001t0004g0005 a0001c0001t0004g0109 others(5): Show a0001c0001t0001g0158 a0001c0001t0004g0005 a0001c0001t0004g0109 a0001c0001t0004g0114 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0119 a0001c0001t0004g0121	8	246	0.0325	7	c.147 others(24): Show c.1479+973_1479+979dupAAAAAAA	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	12/27			chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23870285	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01074.hp2 HG01257.hp2 others(11): Show HG00735.hp1 HG01074.hp2 HG01257.hp2 HG02080.hp2 HG02129.hp2 HG02165.hp1 HG02818.hp1 HG02886.hp1 HG03490.hp1 HG03492.hp1 HG03834.hp1 NA18986.hp2 NA19086.hp2 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 a0001c0002t0001 a0001c0002t0003 a0001c0002t0007	a0001c0002t0001g0238 a0001c0002t0003g0225 a0001c0002t0003g0228 others(11): Show a0001c0002t0001g0238 a0001c0002t0003g0225 a0001c0002t0003g0228 a0001c0002t0003g0229 a0001c0002t0003g0230 a0001c0002t0003g0231 a0001c0002t0003g0234 a0001c0002t0003g0235 a0001c0002t0003g0236 a0001c0002t0003g0237 a0001c0002t0003g0240 a0001c0002t0003g0241 a0001c0002t0007g0243 a0001c0002t0007g0244	14	246	0.0569	7	c.978 others(22): Show c.978-531_978-525dupAAAAAAA	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	8/27			chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23910651	T T	TGAGGTCA TGAGGTCA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp2 HG01074.hp2 others(21): Show HG00735.hp1 HG00741.hp2 HG01074.hp2 HG01243.hp1 HG01257.hp2 HG01433.hp1 HG02080.hp2 HG02129.hp2 HG02135.hp1 HG02165.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02818.hp1 HG02886.hp1 HG03490.hp1 HG03492.hp1 HG03688.hp2 HG03710.hp1 HG03834.hp1 NA18986.hp2 NA19086.hp2 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 others(2): Show a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 a0001c0002t0012	a0001c0001t0003g0007 a0001c0001t0003g0107 a0001c0001t0003g0224 others(21): Show a0001c0001t0003g0007 a0001c0001t0003g0107 a0001c0001t0003g0224 a0001c0002t0001g0238 a0001c0002t0003g0225 a0001c0002t0003g0226 a0001c0002t0003g0227 a0001c0002t0003g0228 a0001c0002t0003g0229 a0001c0002t0003g0230 a0001c0002t0003g0231 a0001c0002t0003g0232 a0001c0002t0003g0234 a0001c0002t0003g0235 a0001c0002t0003g0236 a0001c0002t0003g0237 a0001c0002t0003g0239 a0001c0002t0003g0240 a0001c0002t0003g0241 a0001c0002t0003g0242 a0001c0002t0003g0245 a0001c0002t0007g0243 a0001c0002t0007g0244 a0001c0002t0012g0233	24	246	0.0976	7	c.217 others(26): Show c.217-14688_217-14682dupTGACCTC	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	1/27			chr2	TogoVar
ATAD2_chr8_123314850_123401447	123377091	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00639.hp2 HG00733.hp2 others(43): Show HG00423.hp1 HG00639.hp2 HG00733.hp2 HG01071.hp2 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01256.hp1 HG01358.hp1 HG01496.hp1 HG01884.hp1 HG01943.hp2 HG01952.hp2 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02273.hp1 HG02293.hp2 HG02615.hp1 HG02698.hp2 HG02723.hp1 HG03017.hp1 HG03017.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG06807.hp1 NA18943.hp1 NA18943.hp2 NA18946.hp2 NA18947.hp2 NA18964.hp1 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18977.hp2 NA18981.hp2 NA18988.hp2 NA19000.hp2 NA19060.hp1 NA19090.hp2 NA20805.hp1 NA21309.hp1	a0001 a0003 a0007 others(3): Show a0001 a0003 a0007 a0008 a0012 a0013	a0001c0001 a0001c0009 a0003c0024 others(4): Show a0001c0001 a0001c0009 a0003c0024 a0007c0022 a0008c0015 a0012c0018 a0013c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0009t0001 a0003c0024t0001 a0007c0022t0001 a0008c0015t0001 a0012c0018t0001 a0013c0021t0001	a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0138 others(43): Show a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0138 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0221 a0001c0001t0001g0230 a0001c0001t0001g0266 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0002g0143 a0001c0001t0011g0191 a0001c0009t0001g0017 a0003c0024t0001g0177 a0007c0022t0001g0175 a0008c0015t0001g0116 a0012c0018t0001g0107 a0013c0021t0001g0215	46	278	0.1655	7	c.320 others(24): Show c.320+3431_320+3437dupTTTTTTT	ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	2/27			chr8	TogoVar
ATAD3B_chr1_1466765_1502848	1469099	T T	TAAAAAAA TAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG02559.hp2 NA18959.hp2 others(3): Show HG02165.hp2 HG02559.hp2 NA18959.hp2 NA19004.hp2 NA19007.hp1 NA19074.hp1	a0001 a0002 a0027 a0001 a0002 a0027	a0001c0001 a0002c0002 a0027c0037 a0001c0001 a0002c0002 a0027c0037	a0001c0001t0001 a0001c0001t0006 a0002c0002t0008 others(1): Show a0001c0001t0001 a0001c0001t0006 a0002c0002t0008 a0027c0037t0001	a0001c0001t0001g0003 a0001c0001t0001g0126 a0001c0001t0006g0013 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0126 a0001c0001t0006g0013 a0002c0002t0008g0007 a0027c0037t0001g0003	6	276	0.0217	7	c.-27 others(18): Show c.-2786_-2785insAAAAAAA	ATAD3B	ENSG00000160072.20	transcript	ENST00000673477.1	protein_coding		2665		chr1	TogoVar
ATAD3C_chr1_1444689_1475163	1469099	T T	TAAAAAAA TAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01346.hp2 HG02165.hp1 HG02559.hp2 others(11): Show HG01346.hp2 HG02165.hp1 HG02559.hp2 HG02622.hp1 NA18959.hp1 NA18960.hp1 NA18964.hp1 NA18971.hp1 NA19003.hp1 NA19004.hp1 NA19007.hp1 NA19056.hp1 NA19056.hp2 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0005 others(2): Show a0001c0001 a0001c0004 a0001c0005 a0002c0002 a0002c0007	a0001c0001t0178 a0001c0004t0020 a0001c0004t0109 others(5): Show a0001c0001t0178 a0001c0004t0020 a0001c0004t0109 a0001c0005t0133 a0002c0002t0018 a0002c0002t0082 a0002c0002t0116 a0002c0007t0130	a0001c0001t0178g0237 a0001c0004t0020g0004 a0001c0004t0020g0160 others(9): Show a0001c0001t0178g0237 a0001c0004t0020g0004 a0001c0004t0020g0160 a0001c0004t0020g0162 a0001c0004t0020g0167 a0001c0004t0109g0080 a0001c0005t0133g0335 a0002c0002t0018g0001 a0002c0002t0018g0009 a0002c0002t0082g0065 a0002c0002t0116g0023 a0002c0007t0130g0112	14	410	0.0342	7	c.60 others(16): Show c.600_*606dupAAAAAAA	ATAD3C	ENSG00000215915.10	transcript	ENST00000378785.7	protein_coding	12/12	607	INFO_REALIGN_3_PRIME	chr1	TogoVar
ATAD5_chr17_30826966_30900869	30830460	C C	CAAAAAAA CAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG02300.hp2 HG02486.hp1 others(7): Show HG00544.hp2 HG02300.hp2 HG02486.hp1 NA18957.hp2 NA18992.hp1 NA18998.hp2 NA19011.hp2 NA19060.hp1 NA19086.hp1 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0019 a0002c0002 a0002c0019	a0002c0002t0002 a0002c0019t0013 a0002c0002t0002 a0002c0019t0013	a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0007 others(7): Show a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0007 a0002c0002t0002g0034 a0002c0002t0002g0040 a0002c0002t0002g0043 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0055 a0002c0019t0013g0065	10	286	0.0350	7	c.-18 others(18): Show c.-1888_-1887insAAAAAAA	ATAD5	ENSG00000176208.9	transcript	ENST00000321990.5	protein_coding		1505		chr17	TogoVar
ATAD5_chr17_30826966_30900869	30850870	T T	TATATATA TATATATA	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG04204.hp2 NA18951.hp2 others(2): Show HG03492.hp2 HG04204.hp2 NA18951.hp2 NA18968.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 a0001c0001t0003 a0001c0001t0005 a0001c0001t0016	a0001c0001t0003g0193 a0001c0001t0003g0228 a0001c0001t0003g0262 others(2): Show a0001c0001t0003g0193 a0001c0001t0003g0228 a0001c0001t0003g0262 a0001c0001t0005g0248 a0001c0001t0016g0246	5	286	0.0175	7	c.245 others(26): Show c.2451-4273_2451-4272insATATATA	ATAD5	ENSG00000176208.9	transcript	ENST00000321990.5	protein_coding	6/22			chr17	TogoVar
ATCAY_chr19_3875685_3933082	3914235	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00408.hp2 others(110): Show HG00140.hp2 HG00323.hp1 HG00408.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00735.hp1 HG00741.hp2 HG01069.hp2 HG01074.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01261.hp2 HG01496.hp1 HG01515.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02129.hp2 HG02148.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02523.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02897.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03130.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18962.hp2 NA18966.hp1 NA18969.hp1 NA18971.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18991.hp2 NA18994.hp1 NA19004.hp1 NA19007.hp1 NA19010.hp1 NA19012.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19070.hp1 NA19074.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0036 a0001c0001t0039 a0001c0003t0004 a0001c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0009 others(110): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0088 a0001c0001t0001g0097 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0185 a0001c0001t0001g0196 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0209 a0001c0001t0001g0214 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0240 a0001c0001t0001g0244 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0277 a0001c0001t0001g0282 a0001c0001t0001g0292 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0306 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0327 a0001c0001t0001g0342 a0001c0001t0001g0375 a0001c0001t0001g0378 a0001c0001t0001g0380 a0001c0001t0001g0381 a0001c0001t0001g0382 a0001c0001t0002g0012 a0001c0001t0002g0035 a0001c0001t0002g0091 a0001c0001t0002g0184 a0001c0001t0002g0249 a0001c0001t0002g0258 a0001c0001t0002g0284 a0001c0001t0002g0335 a0001c0001t0003g0264 a0001c0001t0004g0131 a0001c0001t0004g0134 a0001c0001t0004g0146 a0001c0001t0004g0236 a0001c0001t0004g0241 a0001c0001t0004g0291 a0001c0001t0004g0296 a0001c0001t0004g0367 a0001c0001t0005g0064 a0001c0001t0005g0084 a0001c0001t0005g0173 a0001c0001t0005g0224 a0001c0001t0007g0017 a0001c0001t0007g0033 a0001c0001t0007g0154 a0001c0001t0011g0326 a0001c0001t0011g0377 a0001c0001t0016g0142 a0001c0001t0016g0211 a0001c0001t0017g0276 a0001c0001t0021g0364 a0001c0001t0036g0087 a0001c0001t0039g0362 a0001c0003t0004g0066 a0001c0007t0001g0242	113	384	0.2943	7	c.965 others(22): Show c.965+388_965+394dupAAAAAAA	ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ATCAY_chr19_3875685_3933082	3917584	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp2 HG02559.hp1 others(6): Show HG01884.hp1 HG02280.hp2 HG02559.hp1 HG02572.hp2 HG02717.hp2 HG02818.hp2 HG02965.hp1 NA18522.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0044 a0001c0001t0001 a0001c0001t0044	a0001c0001t0001g0026 a0001c0001t0001g0159 a0001c0001t0001g0193 others(6): Show a0001c0001t0001g0026 a0001c0001t0001g0159 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0201 a0001c0001t0001g0247 a0001c0001t0001g0340 a0001c0001t0001g0345 a0001c0001t0044g0207	9	384	0.0234	7	c.966 others(22): Show c.966-138_966-132dupAAAAAAA	ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ATE1_chr10_121735424_121933031	121819679	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01175.hp2 HG02071.hp1 others(8): Show HG00423.hp2 HG01175.hp2 HG02071.hp1 HG02080.hp2 HG02109.hp1 HG02280.hp2 HG02723.hp1 HG03130.hp2 HG03225.hp2 HG03540.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0014 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0002t0010 a0001c0005t0004	a0001c0001t0001g0201 a0001c0001t0003g0072 a0001c0001t0004g0067 others(8): Show a0001c0001t0001g0201 a0001c0001t0003g0072 a0001c0001t0004g0067 a0001c0001t0006g0081 a0001c0001t0006g0087 a0001c0001t0014g0085 a0001c0002t0002g0048 a0001c0002t0004g0205 a0001c0002t0006g0073 a0001c0002t0010g0094 a0001c0005t0004g0313	11	320	0.0344	7	c.125 others(28): Show c.1257+17032_1257+17038dupTTTTTTT	ATE1	ENSG00000107669.19	transcript	ENST00000224652.12	protein_coding	10/11			chr10	TogoVar
ATF1_chr12_50759101_50826162	50823520	T T	TTTATATA TTTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00408.hp1 others(139): Show HG00099.hp2 HG00140.hp1 HG00408.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01433.hp1 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01943.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp2 HG02129.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03831.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 NA18612.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18949.hp2 NA18950.hp1 NA18955.hp2 NA18957.hp2 NA18963.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18989.hp1 NA18993.hp2 NA18995.hp1 NA18998.hp1 NA19002.hp1 NA19003.hp1 NA19005.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19058.hp2 NA19060.hp2 NA19065.hp2 NA19072.hp2 NA19080.hp2 NA19081.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0001t0017 a0001c0002t0004 a0001c0003t0004 a0001c0007t0002	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0014 others(133): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0118 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0343 a0001c0001t0001g0355 a0001c0001t0004g0017 a0001c0001t0004g0338 a0001c0001t0004g0339 a0001c0001t0004g0340 a0001c0001t0004g0342 a0001c0001t0004g0346 a0001c0001t0004g0347 a0001c0001t0004g0349 a0001c0001t0004g0350 a0001c0001t0004g0351 a0001c0001t0004g0356 a0001c0001t0008g0248 a0001c0001t0008g0250 a0001c0001t0009g0164 a0001c0001t0009g0165 a0001c0001t0015g0163 a0001c0001t0017g0280 a0001c0002t0004g0305 a0001c0003t0004g0309 a0001c0003t0004g0341 a0001c0003t0004g0344 a0001c0003t0004g0345 a0001c0003t0004g0348 a0001c0003t0004g0352 a0001c0003t0004g0353 a0001c0003t0004g0354 a0001c0003t0004g0357 a0001c0003t0004g0358 a0001c0003t0004g0359 a0001c0003t0004g0360 a0001c0007t0002g0319	142	382	0.3717	7	c.37 others(18): Show c.3741_*3742insTTATATA	ATF1	ENSG00000123268.9	transcript	ENST00000262053.8	protein_coding		2359		chr12	TogoVar

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