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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Select column to sort.

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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	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	chr	external
ASPM_chr1_197079127_197151669	197102228	G G	A A	synonymous_variant synonymous_variant	LOW	HG03130.hp1 HG03486.hp2 NA21309.hp1 HG03130.hp1 HG03486.hp2 NA21309.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0002 a0004c0012t0002	a0004c0012t0002g0068 a0004c0012t0002g0069 a0004c0012t0002g0070 a0004c0012t0002g0068 a0004c0012t0002g0069 a0004c0012t0002g0070	3	296	0.0101	c.702 others(4): Show c.7023C>T	p.Ile others(7): Show p.Ile2341Ile	ASPM	ENSG00000066279.19	transcript	ENST00000367409.9	protein_coding	18/28	7255/10863	7023/10434	2341/3477	chr1	TogoVar
ASPM_chr1_197079127_197151669	197102549	T T	C C	synonymous_variant synonymous_variant	LOW	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0002 a0001c0033t0002	a0001c0033t0002g0073 a0001c0033t0002g0073	1	296	0.0034	c.670 others(4): Show c.6702A>G	p.Gln others(7): Show p.Gln2234Gln	ASPM	ENSG00000066279.19	transcript	ENST00000367409.9	protein_coding	18/28	6934/10863	6702/10434	2234/3477	chr1	TogoVar
ASPM_chr1_197079127_197151669	197103290	T T	C C	synonymous_variant synonymous_variant	LOW	HG00140.hp1 HG00423.hp1 HG00639.hp2 others(61): Show HG00140.hp1 HG00423.hp1 HG00639.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01256.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01884.hp2 HG01934.hp2 HG02015.hp1 HG02056.hp2 HG02071.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02486.hp2 HG02698.hp1 HG02809.hp2 HG03017.hp1 HG03239.hp2 HG03490.hp1 HG03492.hp1 HG03654.hp2 HG03710.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp2 NA18940.hp1 NA18944.hp2 NA18952.hp1 NA18955.hp2 NA18964.hp1 NA18966.hp2 NA18969.hp2 NA18978.hp1 NA18980.hp2 NA18987.hp2 NA18988.hp2 NA18998.hp2 NA19002.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19057.hp1 NA19068.hp2 NA19079.hp1 NA19086.hp1 NA19089.hp2 NA20129.hp1 NA20905.hp2	a0002 a0016 a0024 others(3): Show a0002 a0016 a0024 a0026 a0030 a0036	a0002c0002 a0002c0040 a0016c0023 others(4): Show a0002c0002 a0002c0040 a0016c0023 a0024c0044 a0026c0042 a0030c0041 a0036c0027	a0002c0002t0001 a0002c0002t0007 a0002c0040t0001 others(5): Show a0002c0002t0001 a0002c0002t0007 a0002c0040t0001 a0016c0023t0001 a0024c0044t0001 a0026c0042t0001 a0030c0041t0001 a0036c0027t0001	a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0010 others(41): Show a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0138 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0171 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0007g0157 a0002c0002t0007g0170 a0002c0040t0001g0151 a0016c0023t0001g0030 a0024c0044t0001g0167 a0026c0042t0001g0143 a0030c0041t0001g0142 a0036c0027t0001g0139	64	296	0.2162	c.596 others(4): Show c.5961A>G	p.Gln others(7): Show p.Gln1987Gln	ASPM	ENSG00000066279.19	transcript	ENST00000367409.9	protein_coding	18/28	6193/10863	5961/10434	1987/3477	chr1	TogoVar
ASPM_chr1_197079127_197151669	197104802	T T	C C	synonymous_variant synonymous_variant	LOW	HG00140.hp1 HG00423.hp1 HG00639.hp2 others(61): Show HG00140.hp1 HG00423.hp1 HG00639.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01256.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01884.hp2 HG01934.hp2 HG02015.hp1 HG02056.hp2 HG02071.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02486.hp2 HG02698.hp1 HG02809.hp2 HG03017.hp1 HG03239.hp2 HG03490.hp1 HG03492.hp1 HG03654.hp2 HG03710.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp2 NA18940.hp1 NA18944.hp2 NA18952.hp1 NA18955.hp2 NA18964.hp1 NA18966.hp2 NA18969.hp2 NA18978.hp1 NA18980.hp2 NA18987.hp2 NA18988.hp2 NA18998.hp2 NA19002.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19057.hp1 NA19068.hp2 NA19079.hp1 NA19086.hp1 NA19089.hp2 NA20129.hp1 NA20905.hp2	a0002 a0016 a0024 others(3): Show a0002 a0016 a0024 a0026 a0030 a0036	a0002c0002 a0002c0040 a0016c0023 others(4): Show a0002c0002 a0002c0040 a0016c0023 a0024c0044 a0026c0042 a0030c0041 a0036c0027	a0002c0002t0001 a0002c0002t0007 a0002c0040t0001 others(5): Show a0002c0002t0001 a0002c0002t0007 a0002c0040t0001 a0016c0023t0001 a0024c0044t0001 a0026c0042t0001 a0030c0041t0001 a0036c0027t0001	a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0010 others(41): Show a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0138 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0171 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0007g0157 a0002c0002t0007g0170 a0002c0040t0001g0151 a0016c0023t0001g0030 a0024c0044t0001g0167 a0026c0042t0001g0143 a0030c0041t0001g0142 a0036c0027t0001g0139	64	296	0.2162	c.444 others(4): Show c.4449A>G	p.Lys others(7): Show p.Lys1483Lys	ASPM	ENSG00000066279.19	transcript	ENST00000367409.9	protein_coding	18/28	4681/10863	4449/10434	1483/3477	chr1	TogoVar
ASPM_chr1_197079127_197151669	197117942	G G	T T	synonymous_variant synonymous_variant	LOW	HG02818.hp2 HG02976.hp1 HG03041.hp1 HG02818.hp2 HG02976.hp1 HG03041.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0004 a0006c0013t0004	a0006c0013t0004g0045 a0006c0013t0004g0046 a0006c0013t0004g0047 a0006c0013t0004g0045 a0006c0013t0004g0046 a0006c0013t0004g0047	3	296	0.0101	c.391 others(4): Show c.3912C>A	p.Ile others(7): Show p.Ile1304Ile	ASPM	ENSG00000066279.19	transcript	ENST00000367409.9	protein_coding	17/28	4144/10863	3912/10434	1304/3477	chr1	TogoVar
ASPM_chr1_197079127_197151669	197122407	A A	T T	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(234): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19083.hp1 NA19083.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(25): Show a0001 a0002 a0003 a0006 a0008 a0009 a0011 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0026 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0036	a0001c0001 a0001c0003 a0001c0008 others(34): Show a0001c0001 a0001c0003 a0001c0008 a0001c0022 a0001c0026 a0001c0028 a0001c0034 a0001c0039 a0001c0045 a0002c0002 a0002c0040 a0003c0005 a0006c0013 a0008c0014 a0009c0015 a0011c0016 a0013c0025 a0014c0024 a0015c0018 a0016c0023 a0017c0021 a0018c0020 a0019c0017 a0020c0019 a0021c0049 a0022c0047 a0023c0046 a0024c0044 a0026c0042 a0029c0036 a0030c0041 a0031c0035 a0032c0037 a0033c0043 a0034c0038 a0035c0048 a0036c0027	a0001c0001t0001 a0001c0001t0009 a0001c0003t0001 others(37): Show a0001c0001t0001 a0001c0001t0009 a0001c0003t0001 a0001c0003t0008 a0001c0008t0001 a0001c0022t0001 a0001c0026t0001 a0001c0028t0001 a0001c0034t0001 a0001c0039t0001 a0001c0045t0001 a0002c0002t0001 a0002c0002t0007 a0002c0040t0001 a0003c0005t0003 a0006c0013t0004 a0008c0014t0001 a0009c0015t0001 a0011c0016t0001 a0013c0025t0004 a0014c0024t0004 a0015c0018t0001 a0016c0023t0001 a0017c0021t0001 a0018c0020t0001 a0019c0017t0001 a0020c0019t0001 a0021c0049t0001 a0022c0047t0001 a0023c0046t0001 a0024c0044t0001 a0026c0042t0001 a0029c0036t0001 a0030c0041t0001 a0031c0035t0001 a0032c0037t0001 a0033c0043t0001 a0034c0038t0001 a0035c0048t0001 a0036c0027t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(164): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0216 a0001c0001t0009g0217 a0001c0003t0001g0002 a0001c0003t0001g0005 a0001c0003t0001g0013 a0001c0003t0001g0014 a0001c0003t0001g0033 a0001c0003t0001g0034 a0001c0003t0001g0177 a0001c0003t0001g0178 a0001c0003t0001g0179 a0001c0003t0001g0181 a0001c0003t0001g0182 a0001c0003t0001g0183 a0001c0003t0001g0184 a0001c0003t0001g0185 a0001c0003t0001g0186 a0001c0003t0001g0187 a0001c0003t0001g0188 a0001c0003t0001g0191 a0001c0003t0001g0192 a0001c0003t0001g0193 a0001c0003t0001g0195 a0001c0003t0001g0198 a0001c0003t0001g0199 a0001c0003t0001g0200 a0001c0003t0001g0201 a0001c0003t0001g0202 a0001c0003t0001g0203 a0001c0003t0001g0204 a0001c0003t0001g0205 a0001c0003t0001g0206 a0001c0003t0001g0207 a0001c0003t0001g0210 a0001c0003t0001g0211 a0001c0003t0001g0212 a0001c0003t0001g0213 a0001c0003t0001g0215 a0001c0003t0008g0194 a0001c0008t0001g0096 a0001c0008t0001g0098 a0001c0008t0001g0099 a0001c0008t0001g0130 a0001c0022t0001g0173 a0001c0022t0001g0174 a0001c0026t0001g0043 a0001c0028t0001g0050 a0001c0034t0001g0180 a0001c0039t0001g0172 a0001c0045t0001g0208 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0138 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0171 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0007g0157 a0002c0002t0007g0170 a0002c0040t0001g0151 a0003c0005t0003g0015 a0003c0005t0003g0038 a0003c0005t0003g0039 a0003c0005t0003g0040 a0003c0005t0003g0041 a0003c0005t0003g0042 a0006c0013t0004g0045 a0006c0013t0004g0046 a0006c0013t0004g0047 a0008c0014t0001g0025 a0008c0014t0001g0116 a0009c0015t0001g0095 a0009c0015t0001g0102 a0009c0015t0001g0123 a0011c0016t0001g0009 a0013c0025t0004g0022 a0014c0024t0004g0090 a0014c0024t0004g0091 a0015c0018t0001g0032 a0016c0023t0001g0030 a0017c0021t0001g0027 a0018c0020t0001g0103 a0018c0020t0001g0104 a0019c0017t0001g0189 a0019c0017t0001g0190 a0020c0019t0001g0031 a0021c0049t0001g0214 a0022c0047t0001g0134 a0023c0046t0001g0131 a0024c0044t0001g0167 a0026c0042t0001g0143 a0029c0036t0001g0196 a0030c0041t0001g0142 a0031c0035t0001g0209 a0032c0037t0001g0197 a0033c0043t0001g0097 a0034c0038t0001g0122 a0035c0048t0001g0135 a0036c0027t0001g0139	237	296	0.8007	c.357 others(4): Show c.3579T>A	p.Ser others(7): Show p.Ser1193Ser	ASPM	ENSG00000066279.19	transcript	ENST00000367409.9	protein_coding	14/28	3811/10863	3579/10434	1193/3477	chr1	TogoVar
ASPM_chr1_197079127_197151669	197124900	C C	T T	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00140.hp2 HG00544.hp1 others(64): Show HG00099.hp1 HG00140.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp2 HG01168.hp1 HG01192.hp2 HG01255.hp1 HG01261.hp2 HG01433.hp1 HG01515.hp2 HG02004.hp1 HG02015.hp2 HG02056.hp1 HG02148.hp2 HG02258.hp2 HG02293.hp2 HG02486.hp1 HG02647.hp2 HG02735.hp2 HG02818.hp1 HG02896.hp2 HG02970.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp2 HG03486.hp1 HG03516.hp1 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03927.hp1 HG04184.hp2 HG04204.hp1 NA18943.hp2 NA18944.hp1 NA18947.hp1 NA18949.hp2 NA18953.hp2 NA18960.hp1 NA18965.hp1 NA18973.hp1 NA18975.hp2 NA18998.hp1 NA19000.hp1 NA19001.hp1 NA19005.hp2 NA19010.hp2 NA19012.hp2 NA19060.hp2 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19072.hp2 NA19076.hp1 NA19083.hp2 NA19088.hp1 NA19240.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp2	a0001 a0015 a0019 others(4): Show a0001 a0015 a0019 a0021 a0029 a0031 a0032	a0001c0003 a0001c0028 a0001c0034 others(7): Show a0001c0003 a0001c0028 a0001c0034 a0001c0045 a0015c0018 a0019c0017 a0021c0049 a0029c0036 a0031c0035 a0032c0037	a0001c0003t0001 a0001c0003t0008 a0001c0028t0001 others(8): Show a0001c0003t0001 a0001c0003t0008 a0001c0028t0001 a0001c0034t0001 a0001c0045t0001 a0015c0018t0001 a0019c0017t0001 a0021c0049t0001 a0029c0036t0001 a0031c0035t0001 a0032c0037t0001	a0001c0003t0001g0002 a0001c0003t0001g0005 a0001c0003t0001g0013 others(44): Show a0001c0003t0001g0002 a0001c0003t0001g0005 a0001c0003t0001g0013 a0001c0003t0001g0014 a0001c0003t0001g0033 a0001c0003t0001g0034 a0001c0003t0001g0177 a0001c0003t0001g0178 a0001c0003t0001g0179 a0001c0003t0001g0181 a0001c0003t0001g0182 a0001c0003t0001g0183 a0001c0003t0001g0184 a0001c0003t0001g0185 a0001c0003t0001g0186 a0001c0003t0001g0187 a0001c0003t0001g0188 a0001c0003t0001g0191 a0001c0003t0001g0192 a0001c0003t0001g0193 a0001c0003t0001g0195 a0001c0003t0001g0198 a0001c0003t0001g0199 a0001c0003t0001g0200 a0001c0003t0001g0201 a0001c0003t0001g0202 a0001c0003t0001g0203 a0001c0003t0001g0204 a0001c0003t0001g0205 a0001c0003t0001g0206 a0001c0003t0001g0207 a0001c0003t0001g0210 a0001c0003t0001g0211 a0001c0003t0001g0212 a0001c0003t0001g0213 a0001c0003t0001g0215 a0001c0003t0008g0194 a0001c0028t0001g0050 a0001c0034t0001g0180 a0001c0045t0001g0208 a0015c0018t0001g0032 a0019c0017t0001g0189 a0019c0017t0001g0190 a0021c0049t0001g0214 a0029c0036t0001g0196 a0031c0035t0001g0209 a0032c0037t0001g0197	67	296	0.2264	c.313 others(4): Show c.3138G>A	p.Arg others(7): Show p.Arg1046Arg	ASPM	ENSG00000066279.19	transcript	ENST00000367409.9	protein_coding	12/28	3370/10863	3138/10434	1046/3477	chr1	TogoVar
ASPM_chr1_197079127_197151669	197129196	G G	A A	synonymous_variant synonymous_variant	LOW	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0045 a0001c0045	a0001c0045t0001 a0001c0045t0001	a0001c0045t0001g0208 a0001c0045t0001g0208	1	296	0.0034	c.275 others(4): Show c.2751C>T	p.Ala others(6): Show p.Ala917Ala	ASPM	ENSG00000066279.19	transcript	ENST00000367409.9	protein_coding	9/28	2983/10863	2751/10434	917/3477	chr1	TogoVar
ASPM_chr1_197079127_197151669	197133462	T T	C C	synonymous_variant synonymous_variant	LOW	HG02818.hp2 HG02976.hp1 HG03041.hp1 HG02818.hp2 HG02976.hp1 HG03041.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0004 a0006c0013t0004	a0006c0013t0004g0045 a0006c0013t0004g0046 a0006c0013t0004g0047 a0006c0013t0004g0045 a0006c0013t0004g0046 a0006c0013t0004g0047	3	296	0.0101	c.230 others(4): Show c.2307A>G	p.Ala others(6): Show p.Ala769Ala	ASPM	ENSG00000066279.19	transcript	ENST00000367409.9	protein_coding	6/28	2539/10863	2307/10434	769/3477	chr1	TogoVar
ASPM_chr1_197079127_197151669	197139816	A A	G G	synonymous_variant synonymous_variant	LOW	HG01433.hp1 NA20752.hp2 HG01433.hp1 NA20752.hp2	a0001 a0001	a0001c0028 a0001c0034 a0001c0028 a0001c0034	a0001c0028t0001 a0001c0034t0001 a0001c0028t0001 a0001c0034t0001	a0001c0028t0001g0050 a0001c0034t0001g0180 a0001c0028t0001g0050 a0001c0034t0001g0180	2	296	0.0068	c.197 others(4): Show c.1977T>C	p.Ile others(6): Show p.Ile659Ile	ASPM	ENSG00000066279.19	transcript	ENST00000367409.9	protein_coding	4/28	2209/10863	1977/10434	659/3477	chr1	TogoVar
ASPM_chr1_197079127_197151669	197143403	G G	A A	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(219): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18940.hp1 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19083.hp1 NA19083.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0008 others(21): Show a0001 a0002 a0008 a0009 a0011 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0026 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0036	a0001c0001 a0001c0003 a0001c0008 others(29): Show a0001c0001 a0001c0003 a0001c0008 a0001c0022 a0001c0026 a0001c0034 a0001c0039 a0001c0045 a0002c0002 a0002c0040 a0008c0014 a0009c0015 a0011c0016 a0015c0018 a0016c0023 a0017c0021 a0018c0020 a0019c0017 a0020c0019 a0021c0049 a0022c0047 a0023c0046 a0024c0044 a0026c0042 a0029c0036 a0030c0041 a0031c0035 a0032c0037 a0033c0043 a0034c0038 a0035c0048 a0036c0027	a0001c0001t0001 a0001c0001t0009 a0001c0003t0001 others(32): Show a0001c0001t0001 a0001c0001t0009 a0001c0003t0001 a0001c0003t0008 a0001c0008t0001 a0001c0022t0001 a0001c0026t0001 a0001c0034t0001 a0001c0039t0001 a0001c0045t0001 a0002c0002t0001 a0002c0002t0007 a0002c0040t0001 a0008c0014t0001 a0009c0015t0001 a0011c0016t0001 a0015c0018t0001 a0016c0023t0001 a0017c0021t0001 a0018c0020t0001 a0019c0017t0001 a0020c0019t0001 a0021c0049t0001 a0022c0047t0001 a0023c0046t0001 a0024c0044t0001 a0026c0042t0001 a0029c0036t0001 a0030c0041t0001 a0031c0035t0001 a0032c0037t0001 a0033c0043t0001 a0034c0038t0001 a0035c0048t0001 a0036c0027t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(151): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0216 a0001c0001t0009g0217 a0001c0003t0001g0002 a0001c0003t0001g0005 a0001c0003t0001g0013 a0001c0003t0001g0014 a0001c0003t0001g0033 a0001c0003t0001g0034 a0001c0003t0001g0177 a0001c0003t0001g0178 a0001c0003t0001g0179 a0001c0003t0001g0181 a0001c0003t0001g0182 a0001c0003t0001g0183 a0001c0003t0001g0184 a0001c0003t0001g0185 a0001c0003t0001g0186 a0001c0003t0001g0187 a0001c0003t0001g0188 a0001c0003t0001g0191 a0001c0003t0001g0192 a0001c0003t0001g0193 a0001c0003t0001g0195 a0001c0003t0001g0198 a0001c0003t0001g0199 a0001c0003t0001g0200 a0001c0003t0001g0201 a0001c0003t0001g0202 a0001c0003t0001g0203 a0001c0003t0001g0204 a0001c0003t0001g0205 a0001c0003t0001g0206 a0001c0003t0001g0207 a0001c0003t0001g0210 a0001c0003t0001g0211 a0001c0003t0001g0212 a0001c0003t0001g0213 a0001c0003t0001g0215 a0001c0003t0008g0194 a0001c0008t0001g0096 a0001c0008t0001g0098 a0001c0008t0001g0099 a0001c0008t0001g0130 a0001c0022t0001g0173 a0001c0022t0001g0174 a0001c0026t0001g0043 a0001c0034t0001g0180 a0001c0039t0001g0172 a0001c0045t0001g0208 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0138 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0171 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0007g0157 a0002c0002t0007g0170 a0002c0040t0001g0151 a0008c0014t0001g0025 a0008c0014t0001g0116 a0009c0015t0001g0095 a0009c0015t0001g0102 a0009c0015t0001g0123 a0011c0016t0001g0009 a0015c0018t0001g0032 a0016c0023t0001g0030 a0017c0021t0001g0027 a0018c0020t0001g0103 a0018c0020t0001g0104 a0019c0017t0001g0189 a0019c0017t0001g0190 a0020c0019t0001g0031 a0021c0049t0001g0214 a0022c0047t0001g0134 a0023c0046t0001g0131 a0024c0044t0001g0167 a0026c0042t0001g0143 a0029c0036t0001g0196 a0030c0041t0001g0142 a0031c0035t0001g0209 a0032c0037t0001g0197 a0033c0043t0001g0097 a0034c0038t0001g0122 a0035c0048t0001g0135 a0036c0027t0001g0139	222	296	0.7500	c.849 others(3): Show c.849C>T	p.Ser others(6): Show p.Ser283Ser	ASPM	ENSG00000066279.19	transcript	ENST00000367409.9	protein_coding	3/28	1081/10863	849/10434	283/3477	chr1	TogoVar
ASPM_chr1_197079127_197151669	197146357	G G	T T	synonymous_variant synonymous_variant	LOW	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0001 a0001c0026t0001	a0001c0026t0001g0043 a0001c0026t0001g0043	1	296	0.0034	c.81C others(2): Show c.81C>A	p.Pro others(5): Show p.Pro27Pro	ASPM	ENSG00000066279.19	transcript	ENST00000367409.9	protein_coding	1/28	313/10863	81/10434	27/3477	chr1	TogoVar
ASPRV1_chr2_69955089_69966631	69960716	G G	A A	synonymous_variant synonymous_variant	LOW	HG02280.hp1 HG03516.hp2 HG02280.hp1 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0000 a0001c0002t0002g0000	2	464	0.0043	c.721 others(3): Show c.721C>T	p.Leu others(6): Show p.Leu241Leu	ASPRV1	ENSG00000244617.3	transcript	ENST00000320256.6	protein_coding	1/1	916/1543	721/780	241/259	chr2	TogoVar
ASPRV1_chr2_69955089_69966631	69960771	T T	C C	synonymous_variant synonymous_variant	LOW	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0000 a0001c0009t0002g0000	1	464	0.0022	c.666 others(3): Show c.666A>G	p.Lys others(6): Show p.Lys222Lys	ASPRV1	ENSG00000244617.3	transcript	ENST00000320256.6	protein_coding	1/1	861/1543	666/780	222/259	chr2	TogoVar
ASPRV1_chr2_69955089_69966631	69960861	A A	G G	synonymous_variant synonymous_variant	LOW	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0000 a0001c0007t0001g0000	1	464	0.0022	c.576 others(3): Show c.576T>C	p.Asn others(6): Show p.Asn192Asn	ASPRV1	ENSG00000244617.3	transcript	ENST00000320256.6	protein_coding	1/1	771/1543	576/780	192/259	chr2	TogoVar
ASPRV1_chr2_69955089_69966631	69961071	G G	A A	synonymous_variant synonymous_variant	LOW	NA18960.hp1 NA19056.hp2 NA18960.hp1 NA19056.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0000 a0001c0003t0010g0000	2	464	0.0043	c.366 others(3): Show c.366C>T	p.Pro others(6): Show p.Pro122Pro	ASPRV1	ENSG00000244617.3	transcript	ENST00000320256.6	protein_coding	1/1	561/1543	366/780	122/259	chr2	TogoVar
ASPSCR1_chr17_81972629_82022406	81983635	C C	T T	synonymous_variant synonymous_variant	LOW	HG00642.hp2 HG01167.hp2 HG01192.hp2 HG00642.hp2 HG01167.hp2 HG01192.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0001	a0002c0013t0001g0031 a0002c0013t0001g0292 a0002c0013t0001g0031 a0002c0013t0001g0292	3	366	0.0082	c.240 others(3): Show c.240C>T	p.Pro others(5): Show p.Pro80Pro	ASPSCR1	ENSG00000169696.16	transcript	ENST00000306739.9	protein_coding	3/16	258/1764	240/1662	80/553	chr17	TogoVar
ASPSCR1_chr17_81972629_82022406	81985599	A A	G G	synonymous_variant synonymous_variant	LOW	HG01167.hp1 HG01169.hp2 HG03225.hp2 HG01167.hp1 HG01169.hp2 HG03225.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0017 a0001c0012t0001g0104 a0001c0012t0001g0017 a0001c0012t0001g0104	3	366	0.0082	c.366 others(3): Show c.366A>G	p.Pro others(6): Show p.Pro122Pro	ASPSCR1	ENSG00000169696.16	transcript	ENST00000306739.9	protein_coding	4/16	384/1764	366/1662	122/553	chr17	TogoVar
ASPSCR1_chr17_81972629_82022406	81994824	G G	A A	synonymous_variant synonymous_variant	LOW	HG00621.hp2 HG01074.hp2 HG01346.hp1 others(23): Show HG00621.hp2 HG01074.hp2 HG01346.hp1 HG01361.hp1 HG01516.hp1 HG01517.hp1 HG02451.hp2 HG02647.hp2 HG02970.hp2 HG03453.hp2 HG03471.hp1 HG03516.hp2 HG03669.hp2 NA18906.hp1 NA18943.hp2 NA18948.hp1 NA18975.hp2 NA18998.hp2 NA19007.hp2 NA19011.hp1 NA19043.hp1 NA19056.hp2 NA19064.hp2 NA19081.hp1 NA19088.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0004 a0001c0014 a0001c0017 others(1): Show a0001c0004 a0001c0014 a0001c0017 a0004c0015	a0001c0004t0001 a0001c0014t0001 a0001c0017t0001 others(1): Show a0001c0004t0001 a0001c0014t0001 a0001c0017t0001 a0004c0015t0001	a0001c0004t0001g0026 a0001c0004t0001g0027 a0001c0004t0001g0170 others(20): Show a0001c0004t0001g0026 a0001c0004t0001g0027 a0001c0004t0001g0170 a0001c0004t0001g0171 a0001c0004t0001g0172 a0001c0004t0001g0173 a0001c0004t0001g0174 a0001c0004t0001g0175 a0001c0004t0001g0176 a0001c0004t0001g0177 a0001c0004t0001g0178 a0001c0004t0001g0179 a0001c0004t0001g0180 a0001c0004t0001g0181 a0001c0004t0001g0182 a0001c0004t0001g0183 a0001c0004t0001g0184 a0001c0004t0001g0186 a0001c0004t0001g0187 a0001c0014t0001g0185 a0001c0014t0001g0214 a0001c0017t0001g0169 a0004c0015t0001g0023	26	366	0.0710	c.378 others(3): Show c.378G>A	p.Glu others(6): Show p.Glu126Glu	ASPSCR1	ENSG00000169696.16	transcript	ENST00000306739.9	protein_coding	5/16	396/1764	378/1662	126/553	chr17	TogoVar
ASPSCR1_chr17_81972629_82022406	82010834	C C	T T	synonymous_variant synonymous_variant	LOW	HG01891.hp1 HG02717.hp1 HG02895.hp1 others(6): Show HG01891.hp1 HG02717.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 NA19043.hp1 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0007 a0001c0017 a0001c0024 a0001c0007 a0001c0017 a0001c0024	a0001c0007t0001 a0001c0017t0001 a0001c0024t0001 a0001c0007t0001 a0001c0017t0001 a0001c0024t0001	a0001c0007t0001g0008 a0001c0007t0001g0047 a0001c0007t0001g0133 others(4): Show a0001c0007t0001g0008 a0001c0007t0001g0047 a0001c0007t0001g0133 a0001c0007t0001g0143 a0001c0007t0001g0144 a0001c0017t0001g0169 a0001c0024t0001g0149	9	366	0.0246	c.120 others(4): Show c.1203C>T	p.Tyr others(6): Show p.Tyr401Tyr	ASPSCR1	ENSG00000169696.16	transcript	ENST00000306739.9	protein_coding	10/16	1221/1764	1203/1662	401/553	chr17	TogoVar
ASPSCR1_chr17_81972629_82022406	82016804	C C	G G	synonymous_variant synonymous_variant	LOW	HG02922.hp2 NA19043.hp1 HG02922.hp2 NA19043.hp1	a0001 a0001	a0001c0017 a0001c0024 a0001c0017 a0001c0024	a0001c0017t0001 a0001c0024t0001 a0001c0017t0001 a0001c0024t0001	a0001c0017t0001g0169 a0001c0024t0001g0149 a0001c0017t0001g0169 a0001c0024t0001g0149	2	366	0.0055	c.141 others(4): Show c.1410C>G	p.Val others(6): Show p.Val470Val	ASPSCR1	ENSG00000169696.16	transcript	ENST00000306739.9	protein_coding	14/16	1428/1764	1410/1662	470/553	chr17	TogoVar
ASPSCR1_chr17_81972629_82022406	82016855	T T	C C	synonymous_variant synonymous_variant	LOW	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(217): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02080.hp2 HG02129.hp2 HG02135.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18947.hp1 NA18948.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18956.hp2 NA18962.hp2 NA18964.hp1 NA18970.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18992.hp1 NA18997.hp2 NA18999.hp2 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19070.hp1 NA19081.hp1 NA19088.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0010 a0011	a0001c0003 a0001c0004 a0001c0007 others(15): Show a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0001c0012 a0001c0017 a0001c0024 a0002c0002 a0002c0013 a0003c0006 a0004c0010 a0004c0015 a0005c0009 a0007c0016 a0008c0021 a0009c0023 a0010c0018 a0011c0019	a0001c0003t0001 a0001c0004t0001 a0001c0007t0001 others(15): Show a0001c0003t0001 a0001c0004t0001 a0001c0007t0001 a0001c0008t0002 a0001c0012t0001 a0001c0017t0001 a0001c0024t0001 a0002c0002t0001 a0002c0013t0001 a0003c0006t0001 a0004c0010t0001 a0004c0015t0001 a0005c0009t0001 a0007c0016t0001 a0008c0021t0001 a0009c0023t0001 a0010c0018t0001 a0011c0019t0001	a0001c0003t0001g0003 a0001c0003t0001g0014 a0001c0003t0001g0021 others(190): Show a0001c0003t0001g0003 a0001c0003t0001g0014 a0001c0003t0001g0021 a0001c0003t0001g0024 a0001c0003t0001g0025 a0001c0003t0001g0041 a0001c0003t0001g0057 a0001c0003t0001g0061 a0001c0003t0001g0071 a0001c0003t0001g0088 a0001c0003t0001g0089 a0001c0003t0001g0090 a0001c0003t0001g0091 a0001c0003t0001g0092 a0001c0003t0001g0093 a0001c0003t0001g0102 a0001c0003t0001g0109 a0001c0003t0001g0111 a0001c0003t0001g0145 a0001c0003t0001g0146 a0001c0003t0001g0147 a0001c0003t0001g0150 a0001c0003t0001g0151 a0001c0003t0001g0159 a0001c0003t0001g0160 a0001c0003t0001g0162 a0001c0003t0001g0163 a0001c0003t0001g0165 a0001c0003t0001g0166 a0001c0003t0001g0167 a0001c0003t0001g0199 a0001c0003t0001g0283 a0001c0003t0001g0289 a0001c0003t0001g0290 a0001c0003t0001g0314 a0001c0004t0001g0026 a0001c0004t0001g0027 a0001c0004t0001g0170 a0001c0004t0001g0171 a0001c0004t0001g0172 a0001c0004t0001g0173 a0001c0004t0001g0174 a0001c0004t0001g0175 a0001c0004t0001g0176 a0001c0004t0001g0177 a0001c0004t0001g0178 a0001c0004t0001g0179 a0001c0004t0001g0180 a0001c0004t0001g0181 a0001c0004t0001g0182 a0001c0004t0001g0183 a0001c0004t0001g0184 a0001c0004t0001g0186 a0001c0004t0001g0187 a0001c0007t0001g0008 a0001c0007t0001g0047 a0001c0007t0001g0133 a0001c0007t0001g0143 a0001c0007t0001g0144 a0001c0008t0002g0009 a0001c0008t0002g0211 a0001c0008t0002g0212 a0001c0008t0002g0213 a0001c0012t0001g0017 a0001c0012t0001g0104 a0001c0017t0001g0169 a0001c0024t0001g0149 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0010 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0049 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0168 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0230 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0242 a0002c0002t0001g0244 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0279 a0002c0002t0001g0281 a0002c0002t0001g0285 a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0291 a0002c0002t0001g0293 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0303 a0002c0002t0001g0304 a0002c0002t0001g0305 a0002c0002t0001g0309 a0002c0002t0001g0310 a0002c0002t0001g0311 a0002c0002t0001g0312 a0002c0002t0001g0313 a0002c0013t0001g0031 a0002c0013t0001g0292 a0003c0006t0001g0030 a0003c0006t0001g0223 a0003c0006t0001g0240 a0003c0006t0001g0241 a0003c0006t0001g0243 a0003c0006t0001g0294 a0004c0010t0001g0148 a0004c0010t0001g0154 a0004c0010t0001g0157 a0004c0010t0001g0158 a0004c0015t0001g0023 a0005c0009t0001g0032 a0005c0009t0001g0152 a0005c0009t0001g0245 a0007c0016t0001g0231 a0007c0016t0001g0232 a0008c0021t0001g0131 a0009c0023t0001g0132 a0010c0018t0001g0282 a0011c0019t0001g0308	220	366	0.6011	c.146 others(4): Show c.1461T>C	p.Asp others(6): Show p.Asp487Asp	ASPSCR1	ENSG00000169696.16	transcript	ENST00000306739.9	protein_coding	14/16	1479/1764	1461/1662	487/553	chr17	TogoVar
ASPSCR1_chr17_81972629_82022406	82017028	G G	A A	synonymous_variant synonymous_variant	LOW	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0115 a0001c0022t0001g0115	1	366	0.0027	c.156 others(4): Show c.1563G>A	p.Ala others(6): Show p.Ala521Ala	ASPSCR1	ENSG00000169696.16	transcript	ENST00000306739.9	protein_coding	15/16	1581/1764	1563/1662	521/553	chr17	TogoVar
ASPSCR1_chr17_81972629_82022406	82017097	G G	A A	synonymous_variant synonymous_variant	LOW	HG01884.hp2 HG02280.hp1 HG02630.hp2 others(3): Show HG01884.hp2 HG02280.hp1 HG02630.hp2 HG02809.hp1 HG03098.hp2 HG03471.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0009 a0001c0008t0002g0211 a0001c0008t0002g0212 others(1): Show a0001c0008t0002g0009 a0001c0008t0002g0211 a0001c0008t0002g0212 a0001c0008t0002g0213	6	366	0.0164	c.163 others(4): Show c.1632G>A	p.Lys others(6): Show p.Lys544Lys	ASPSCR1	ENSG00000169696.16	transcript	ENST00000306739.9	protein_coding	15/16	1650/1764	1632/1662	544/553	chr17	TogoVar
ASRGL1_chr11_62332448_62398412	62338139	C C	T T	synonymous_variant synonymous_variant	LOW	NA18980.hp2 NA19060.hp1 NA19079.hp1 NA18980.hp2 NA19060.hp1 NA19079.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0089 a0001c0003t0001g0090 a0001c0003t0001g0114 a0001c0003t0001g0089 a0001c0003t0001g0090 a0001c0003t0001g0114	3	370	0.0081	c.162 others(3): Show c.162C>T	p.Ala others(5): Show p.Ala54Ala	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	2/7	377/2270	162/927	54/308	chr11	TogoVar
ASRGL1_chr11_62332448_62398412	62389136	C C	T T	synonymous_variant synonymous_variant	LOW	HG02027.hp2 HG03710.hp2 NA18612.hp1 others(18): Show HG02027.hp2 HG03710.hp2 NA18612.hp1 NA18949.hp1 NA18955.hp1 NA18967.hp1 NA18969.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18987.hp1 NA18990.hp1 NA18998.hp1 NA19010.hp2 NA19058.hp1 NA19072.hp2 NA19077.hp1 NA19078.hp1 NA19080.hp2 NA19081.hp1 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0290 a0001c0002t0003g0291 a0001c0002t0003g0292 others(18): Show a0001c0002t0003g0290 a0001c0002t0003g0291 a0001c0002t0003g0292 a0001c0002t0003g0293 a0001c0002t0003g0294 a0001c0002t0003g0295 a0001c0002t0003g0296 a0001c0002t0003g0297 a0001c0002t0003g0298 a0001c0002t0003g0299 a0001c0002t0003g0300 a0001c0002t0003g0301 a0001c0002t0003g0302 a0001c0002t0003g0303 a0001c0002t0003g0304 a0001c0002t0003g0305 a0001c0002t0003g0307 a0001c0002t0003g0308 a0001c0002t0003g0309 a0001c0002t0003g0311 a0001c0002t0003g0312	21	370	0.0568	c.495 others(3): Show c.495C>T	p.Asn others(6): Show p.Asn165Asn	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	5/7	710/2270	495/927	165/308	chr11	TogoVar
ASRGL1_chr11_62332448_62398412	62389229	C C	T T	synonymous_variant synonymous_variant	LOW	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0011 a0001c0008t0001g0011	1	370	0.0027	c.588 others(3): Show c.588C>T	p.Arg others(6): Show p.Arg196Arg	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	5/7	803/2270	588/927	196/308	chr11	TogoVar
ASRGL1_chr11_62332448_62398412	62391538	C C	T T	synonymous_variant synonymous_variant	LOW	HG02056.hp1 NA18939.hp2 HG02056.hp1 NA18939.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0040 a0001c0005t0041 a0001c0005t0040 a0001c0005t0041	a0001c0005t0040g0314 a0001c0005t0041g0313 a0001c0005t0040g0314 a0001c0005t0041g0313	2	370	0.0054	c.627 others(3): Show c.627C>T	p.Ala others(6): Show p.Ala209Ala	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	6/7	842/2270	627/927	209/308	chr11	TogoVar
ASRGL1_chr11_62332448_62398412	62392110	G G	A A	synonymous_variant synonymous_variant	LOW	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0022 a0001c0006t0022	a0001c0006t0022g0160 a0001c0006t0022g0160	1	370	0.0027	c.753 others(3): Show c.753G>A	p.Ser others(6): Show p.Ser251Ser	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	7/7	968/2270	753/927	251/308	chr11	TogoVar
ASRGL1_chr11_62332448_62398412	62392236	G G	C C	synonymous_variant synonymous_variant	LOW	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0134 a0001c0007t0003g0134	1	370	0.0027	c.879 others(3): Show c.879G>C	p.Leu others(6): Show p.Leu293Leu	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	7/7	1094/2270	879/927	293/308	chr11	TogoVar
ASS1_chr9_130439961_130506274	130470839	C C	T T	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG00733.hp1 HG00738.hp1 others(35): Show HG00099.hp2 HG00733.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01167.hp2 HG01516.hp1 HG01952.hp1 HG02280.hp2 HG02486.hp2 HG02523.hp2 HG02602.hp2 HG02683.hp2 HG02735.hp1 HG02738.hp2 HG02922.hp2 HG03195.hp1 HG03225.hp2 HG03471.hp1 HG03492.hp1 HG03516.hp1 HG03669.hp2 HG04204.hp2 NA18522.hp2 NA18906.hp2 NA18942.hp1 NA18950.hp1 NA18970.hp2 NA18986.hp1 NA19007.hp2 NA19030.hp1 NA19043.hp2 NA19057.hp1 NA19065.hp1 NA19070.hp1 NA19086.hp1 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0004 a0003c0015 a0001c0002 a0002c0004 a0003c0015	a0001c0002t0001 a0001c0002t0002 a0002c0004t0001 others(1): Show a0001c0002t0001 a0001c0002t0002 a0002c0004t0001 a0003c0015t0001	a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0009 others(30): Show a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0009 a0001c0002t0001g0016 a0001c0002t0001g0050 a0001c0002t0001g0074 a0001c0002t0001g0113 a0001c0002t0001g0121 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0170 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0316 a0001c0002t0002g0176 a0002c0004t0001g0012 a0002c0004t0001g0310 a0002c0004t0001g0311 a0002c0004t0001g0312 a0002c0004t0001g0353 a0003c0015t0001g0205	38	374	0.1016	c.501 others(3): Show c.501C>T	p.His others(6): Show p.His167His	ASS1	ENSG00000130707.18	transcript	ENST00000352480.10	protein_coding	7/15	541/1532	501/1239	167/412	chr9	TogoVar
ASS1_chr9_130439961_130506274	130470902	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18964.hp2 NA19063.hp2 NA19065.hp2 NA18964.hp2 NA19063.hp2 NA19065.hp2	a0001 a0009 a0001 a0009	a0001c0007 a0009c0010 a0001c0007 a0009c0010	a0001c0007t0001 a0009c0010t0001 a0001c0007t0001 a0009c0010t0001	a0001c0007t0001g0093 a0001c0007t0001g0260 a0009c0010t0001g0216 a0001c0007t0001g0093 a0001c0007t0001g0260 a0009c0010t0001g0216	3	374	0.0080	c.564 others(3): Show c.564C>T	p.Ile others(6): Show p.Ile188Ile	ASS1	ENSG00000130707.18	transcript	ENST00000352480.10	protein_coding	7/15	604/1532	564/1239	188/412	chr9	TogoVar
ASS1_chr9_130439961_130506274	130476948	C C	T T	synonymous_variant synonymous_variant	LOW	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0167 a0001c0014t0001g0167	1	374	0.0027	c.675 others(3): Show c.675C>T	p.Ile others(6): Show p.Ile225Ile	ASS1	ENSG00000130707.18	transcript	ENST00000352480.10	protein_coding	9/15	715/1532	675/1239	225/412	chr9	TogoVar
ASS1_chr9_130439961_130506274	130489370	T T	C C	synonymous_variant synonymous_variant	LOW	HG00738.hp2 HG01070.hp2 HG01071.hp1 others(20): Show HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01192.hp1 HG01261.hp2 HG01361.hp2 HG01891.hp2 HG02055.hp1 HG02257.hp1 HG02559.hp2 HG02602.hp1 HG02647.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03098.hp1 NA18906.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0045 a0001c0003t0001g0107 a0001c0003t0001g0111 others(20): Show a0001c0003t0001g0045 a0001c0003t0001g0107 a0001c0003t0001g0111 a0001c0003t0001g0142 a0001c0003t0001g0185 a0001c0003t0001g0195 a0001c0003t0001g0209 a0001c0003t0001g0219 a0001c0003t0001g0225 a0001c0003t0001g0226 a0001c0003t0001g0279 a0001c0003t0001g0292 a0001c0003t0001g0293 a0001c0003t0001g0294 a0001c0003t0001g0295 a0001c0003t0001g0305 a0001c0003t0001g0309 a0001c0003t0001g0322 a0001c0003t0001g0324 a0001c0003t0001g0325 a0001c0003t0001g0339 a0001c0003t0001g0346 a0001c0003t0001g0352	23	374	0.0615	c.876 others(3): Show c.876T>C	p.His others(6): Show p.His292His	ASS1	ENSG00000130707.18	transcript	ENST00000352480.10	protein_coding	12/15	916/1532	876/1239	292/412	chr9	TogoVar
ASS1_chr9_130439961_130506274	130494979	C C	T T	synonymous_variant synonymous_variant	LOW	NA18964.hp1 NA18965.hp1 NA18993.hp2 NA18964.hp1 NA18965.hp1 NA18993.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0028 a0001c0005t0001g0213 a0001c0005t0001g0288 a0001c0005t0001g0028 a0001c0005t0001g0213 a0001c0005t0001g0288	3	374	0.0080	c.108 others(4): Show c.1083C>T	p.Leu others(6): Show p.Leu361Leu	ASS1	ENSG00000130707.18	transcript	ENST00000352480.10	protein_coding	13/15	1123/1532	1083/1239	361/412	chr9	TogoVar
ASTE1_chr3_131008875_131031825	131024968	G G	A A	synonymous_variant synonymous_variant	LOW	HG00140.hp2 HG00280.hp2 HG00597.hp1 others(64): Show HG00140.hp2 HG00280.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp2 HG00735.hp1 HG00741.hp1 HG01069.hp1 HG01099.hp1 HG01109.hp2 HG01175.hp1 HG01258.hp2 HG01358.hp2 HG01517.hp1 HG02027.hp2 HG02055.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG02698.hp1 HG02723.hp2 HG02735.hp1 HG02976.hp1 HG03139.hp2 HG03239.hp1 HG03491.hp1 HG03516.hp2 HG03579.hp1 HG03669.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 NA18522.hp2 NA18747.hp2 NA18906.hp2 NA18954.hp2 NA18960.hp2 NA18969.hp2 NA18970.hp2 NA18973.hp1 NA18980.hp2 NA18981.hp1 NA18988.hp2 NA18990.hp2 NA18991.hp2 NA19000.hp1 NA19004.hp2 NA19009.hp1 NA19011.hp2 NA19030.hp1 NA19059.hp1 NA19062.hp2 NA19066.hp1 NA19074.hp1 NA19082.hp1 NA19087.hp1 NA19240.hp1 NA20752.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0002 a0002c0003 a0006c0011 a0001c0002 a0002c0003 a0006c0011	a0001c0002t0002 a0001c0002t0005 a0001c0002t0010 others(2): Show a0001c0002t0002 a0001c0002t0005 a0001c0002t0010 a0002c0003t0002 a0006c0011t0002	a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0013 others(18): Show a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0013 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0005g0039 a0001c0002t0010g0105 a0002c0003t0002g0010 a0006c0011t0002g0048	67	404	0.1658	c.339 others(3): Show c.339C>T	p.Tyr others(6): Show p.Tyr113Tyr	ASTE1	ENSG00000034533.12	transcript	ENST00000264992.8	protein_coding	3/6	804/2687	339/2040	113/679	chr3	TogoVar
ASTE1_chr3_131008875_131031825	131025121	T T	C C	synonymous_variant synonymous_variant	LOW	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0100 a0001c0012t0001g0100	1	404	0.0025	c.186 others(3): Show c.186A>G	p.Lys others(5): Show p.Lys62Lys	ASTE1	ENSG00000034533.12	transcript	ENST00000264992.8	protein_coding	3/6	651/2687	186/2040	62/679	chr3	TogoVar
ASTL_chr2_96117818_96143502	96123871	G G	A A	synonymous_variant synonymous_variant	LOW	HG00673.hp1 NA18956.hp1 NA18981.hp1 HG00673.hp1 NA18956.hp1 NA18981.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0085 a0001c0008t0001g0126 a0001c0008t0001g0127 a0001c0008t0001g0085 a0001c0008t0001g0126 a0001c0008t0001g0127	3	396	0.0076	c.127 others(4): Show c.1275C>T	p.Phe others(6): Show p.Phe425Phe	ASTL	ENSG00000188886.4	transcript	ENST00000342380.3	protein_coding	9/9	1341/2394	1275/1296	425/431	chr2	TogoVar
ASTL_chr2_96117818_96143502	96124048	T T	C C	synonymous_variant synonymous_variant	LOW	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(142): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02083.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02293.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02818.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03239.hp2 HG03453.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp2 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18946.hp1 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp2 NA18962.hp1 NA18964.hp2 NA18966.hp2 NA18972.hp2 NA18977.hp1 NA18977.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18987.hp1 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19007.hp1 NA19010.hp2 NA19011.hp2 NA19043.hp1 NA19054.hp2 NA19063.hp1 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19077.hp2 NA19080.hp2 NA19085.hp2 NA19086.hp2 NA19089.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0000 a0001 a0002 others(2): Show a0000 a0001 a0002 a0004 a0008	a0000c0005 a0001c0014 a0002c0002 others(4): Show a0000c0005 a0001c0014 a0002c0002 a0002c0007 a0002c0017 a0004c0006 a0008c0016	a0000c0005t0001 a0001c0014t0001 a0002c0002t0001 others(9): Show a0000c0005t0001 a0001c0014t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 a0002c0002t0009 a0002c0002t0011 a0002c0007t0001 a0002c0007t0006 a0002c0017t0005 a0004c0006t0003 a0008c0016t0001	a0000c0005t0001g0008 a0001c0014t0001g0060 a0002c0002t0001g0002 others(51): Show a0000c0005t0001g0008 a0001c0014t0001g0060 a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0011 a0002c0002t0001g0013 a0002c0002t0001g0018 a0002c0002t0001g0031 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0095 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0115 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0003g0032 a0002c0002t0003g0056 a0002c0002t0005g0096 a0002c0002t0005g0099 a0002c0002t0009g0073 a0002c0002t0011g0107 a0002c0007t0001g0012 a0002c0007t0006g0029 a0002c0017t0005g0121 a0004c0006t0003g0015 a0004c0006t0003g0129 a0004c0006t0003g0130 a0004c0006t0003g0131 a0008c0016t0001g0082	145	396	0.3662	c.109 others(4): Show c.1098A>G	p.Leu others(6): Show p.Leu366Leu	ASTL	ENSG00000188886.4	transcript	ENST00000342380.3	protein_coding	9/9	1164/2394	1098/1296	366/431	chr2	TogoVar
ASTL_chr2_96117818_96143502	96124192	C C	T T	synonymous_variant synonymous_variant	LOW	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0045 a0001c0013t0001g0045	1	396	0.0025	c.954 others(3): Show c.954G>A	p.Ala others(6): Show p.Ala318Ala	ASTL	ENSG00000188886.4	transcript	ENST00000342380.3	protein_coding	9/9	1020/2394	954/1296	318/431	chr2	TogoVar
ASTL_chr2_96117818_96143502	96129861	G G	A A	synonymous_variant synonymous_variant	LOW	NA18992.hp1 NA18999.hp1 NA18992.hp1 NA18999.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0030 a0001c0010t0001g0030	2	396	0.0051	c.837 others(3): Show c.837C>T	p.Tyr others(6): Show p.Tyr279Tyr	ASTL	ENSG00000188886.4	transcript	ENST00000342380.3	protein_coding	8/9	903/2394	837/1296	279/431	chr2	TogoVar
ASTL_chr2_96117818_96143502	96129975	G G	A A	synonymous_variant synonymous_variant	LOW	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(163): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02293.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02818.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03239.hp2 HG03453.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18966.hp2 NA18973.hp1 NA18977.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18993.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19001.hp2 NA19007.hp1 NA19010.hp2 NA19011.hp2 NA19043.hp1 NA19060.hp2 NA19063.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19076.hp2 NA19077.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA19240.hp2 NA20129.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0000 a0002 a0004 others(1): Show a0000 a0002 a0004 a0008	a0000c0005 a0002c0002 a0002c0003 others(3): Show a0000c0005 a0002c0002 a0002c0003 a0002c0017 a0004c0006 a0008c0016	a0000c0005t0001 a0002c0002t0001 a0002c0002t0003 others(8): Show a0000c0005t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 a0002c0002t0009 a0002c0002t0011 a0002c0003t0002 a0002c0003t0008 a0002c0017t0005 a0004c0006t0003 a0008c0016t0001	a0000c0005t0001g0008 a0002c0002t0001g0002 a0002c0002t0001g0004 others(57): Show a0000c0005t0001g0008 a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0011 a0002c0002t0001g0013 a0002c0002t0001g0018 a0002c0002t0001g0031 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0095 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0115 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0003g0032 a0002c0002t0003g0056 a0002c0002t0005g0096 a0002c0002t0005g0099 a0002c0002t0009g0073 a0002c0002t0011g0107 a0002c0003t0002g0006 a0002c0003t0002g0014 a0002c0003t0002g0101 a0002c0003t0002g0113 a0002c0003t0002g0114 a0002c0003t0002g0116 a0002c0003t0002g0117 a0002c0003t0002g0125 a0002c0003t0008g0100 a0002c0017t0005g0121 a0004c0006t0003g0015 a0004c0006t0003g0129 a0004c0006t0003g0130 a0004c0006t0003g0131 a0008c0016t0001g0082	166	396	0.4192	c.723 others(3): Show c.723C>T	p.Leu others(6): Show p.Leu241Leu	ASTL	ENSG00000188886.4	transcript	ENST00000342380.3	protein_coding	8/9	789/2394	723/1296	241/431	chr2	TogoVar
ASTL_chr2_96117818_96143502	96132580	C C	G G	synonymous_variant synonymous_variant	LOW	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0039 a0001c0012t0001g0039	1	396	0.0025	c.597 others(3): Show c.597G>C	p.Arg others(6): Show p.Arg199Arg	ASTL	ENSG00000188886.4	transcript	ENST00000342380.3	protein_coding	6/9	663/2394	597/1296	199/431	chr2	TogoVar
ASTL_chr2_96117818_96143502	96134032	G G	C C	synonymous_variant synonymous_variant	LOW	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0005 a0002c0017t0005	a0002c0017t0005g0121 a0002c0017t0005g0121	1	396	0.0025	c.270 others(3): Show c.270C>G	p.Thr others(5): Show p.Thr90Thr	ASTL	ENSG00000188886.4	transcript	ENST00000342380.3	protein_coding	4/9	336/2394	270/1296	90/431	chr2	TogoVar
ASTN1_chr1_176856067_177169712	176882921	C C	T T	synonymous_variant synonymous_variant	LOW	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0009 a0002c0014t0009	a0002c0014t0009g0078 a0002c0014t0009g0078	1	112	0.0089	c.330 others(4): Show c.3300G>A	p.Pro others(7): Show p.Pro1100Pro	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	20/23	3336/7138	3300/3885	1100/1294	chr1	TogoVar
ASTN1_chr1_176856067_177169712	176894706	C C	T T	synonymous_variant synonymous_variant	LOW	HG00639.hp1 HG00673.hp2 HG01346.hp1 others(15): Show HG00639.hp1 HG00673.hp2 HG01346.hp1 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02257.hp2 HG02615.hp2 HG02809.hp2 HG02886.hp2 HG03130.hp2 HG03471.hp2 NA18522.hp2 NA18906.hp2 NA19062.hp1 NA19240.hp1 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0005 a0001c0009 a0001c0012 others(1): Show a0001c0005 a0001c0009 a0001c0012 a0003c0010	a0001c0005t0004 a0001c0005t0005 a0001c0009t0004 others(4): Show a0001c0005t0004 a0001c0005t0005 a0001c0009t0004 a0001c0009t0005 a0001c0012t0004 a0001c0012t0005 a0003c0010t0006	a0001c0005t0004g0072 a0001c0005t0004g0076 a0001c0005t0004g0077 others(15): Show a0001c0005t0004g0072 a0001c0005t0004g0076 a0001c0005t0004g0077 a0001c0005t0004g0085 a0001c0005t0005g0059 a0001c0005t0005g0102 a0001c0009t0004g0005 a0001c0009t0004g0006 a0001c0009t0004g0024 a0001c0009t0005g0025 a0001c0009t0005g0080 a0001c0012t0004g0010 a0001c0012t0005g0045 a0003c0010t0006g0030 a0003c0010t0006g0031 a0003c0010t0006g0038 a0003c0010t0006g0043 a0003c0010t0006g0106	18	112	0.1607	c.279 others(4): Show c.2796G>A	p.Glu others(6): Show p.Glu932Glu	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	17/23	2832/7138	2796/3885	932/1294	chr1	TogoVar
ASTN1_chr1_176856067_177169712	177023417	A A	G G	synonymous_variant synonymous_variant	LOW	HG00140.hp2 HG00639.hp2 HG00642.hp1 others(68): Show HG00140.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG01070.hp2 HG01071.hp1 HG01123.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01346.hp2 HG01993.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03579.hp1 HG03579.hp2 HG03834.hp1 HG04115.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18952.hp1 NA18981.hp2 NA19062.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0001c0003 a0001c0005 others(7): Show a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0012 a0002c0004 a0002c0007 a0002c0011 a0002c0014 a0005c0013	a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 others(25): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0011 a0001c0002t0014 a0001c0002t0015 a0001c0002t0020 a0001c0003t0001 a0001c0003t0002 a0001c0003t0008 a0001c0003t0012 a0001c0003t0013 a0001c0003t0019 a0001c0005t0004 a0001c0005t0005 a0001c0006t0001 a0001c0006t0002 a0001c0006t0010 a0001c0006t0011 a0001c0012t0004 a0001c0012t0005 a0002c0004t0003 a0002c0007t0001 a0002c0007t0016 a0002c0011t0001 a0002c0011t0009 a0002c0014t0009 a0005c0013t0001	a0001c0002t0001g0008 a0001c0002t0001g0029 a0001c0002t0002g0013 others(68): Show 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 a0001c0012t0004g0010 a0001c0012t0005g0045 a0002c0004t0003g0042 a0002c0004t0003g0057 a0002c0004t0003g0060 a0002c0004t0003g0061 a0002c0004t0003g0065 a0002c0004t0003g0089 a0002c0004t0003g0090 a0002c0004t0003g0092 a0002c0004t0003g0093 a0002c0004t0003g0095 a0002c0004t0003g0097 a0002c0004t0003g0103 a0002c0007t0001g0011 a0002c0007t0001g0046 a0002c0007t0001g0071 a0002c0007t0001g0105 a0002c0007t0016g0066 a0002c0011t0001g0015 a0002c0011t0009g0003 a0002c0011t0009g0040 a0002c0014t0009g0078 a0005c0013t0001g0001	71	112	0.6339	c.142 others(4): Show c.1425T>C	p.Cys others(6): Show p.Cys475Cys	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	7/23	1461/7138	1425/3885	475/1294	chr1	TogoVar
ASTN1_chr1_176856067_177169712	177023540	C C	T T	synonymous_variant synonymous_variant	LOW	HG00140.hp2 HG00642.hp1 HG01070.hp2 others(21): Show HG00140.hp2 HG00642.hp1 HG01070.hp2 HG02055.hp2 HG02145.hp1 HG02258.hp1 HG02258.hp2 HG02615.hp2 HG02647.hp2 HG02886.hp1 HG02886.hp2 HG02965.hp2 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03225.hp2 HG03239.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA20129.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0012 a0002c0007 a0001c0003 a0001c0012 a0002c0007	a0001c0003t0001 a0001c0003t0002 a0001c0003t0008 others(7): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0008 a0001c0003t0012 a0001c0003t0013 a0001c0003t0019 a0001c0012t0004 a0001c0012t0005 a0002c0007t0001 a0002c0007t0016	a0001c0003t0001g0002 a0001c0003t0001g0034 a0001c0003t0001g0109 others(21): Show a0001c0003t0001g0002 a0001c0003t0001g0034 a0001c0003t0001g0109 a0001c0003t0002g0018 a0001c0003t0002g0036 a0001c0003t0002g0064 a0001c0003t0002g0067 a0001c0003t0002g0074 a0001c0003t0002g0079 a0001c0003t0002g0081 a0001c0003t0002g0100 a0001c0003t0008g0062 a0001c0003t0008g0091 a0001c0003t0008g0104 a0001c0003t0012g0087 a0001c0003t0013g0096 a0001c0003t0019g0073 a0001c0012t0004g0010 a0001c0012t0005g0045 a0002c0007t0001g0011 a0002c0007t0001g0046 a0002c0007t0001g0071 a0002c0007t0001g0105 a0002c0007t0016g0066	24	112	0.2143	c.130 others(4): Show c.1302G>A	p.Gln others(6): Show p.Gln434Gln	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	7/23	1338/7138	1302/3885	434/1294	chr1	TogoVar
ASTN1_chr1_176856067_177169712	177032760	C C	G G	synonymous_variant synonymous_variant	LOW	HG00639.hp2 HG00642.hp2 HG00673.hp1 others(15): Show HG00639.hp2 HG00642.hp2 HG00673.hp1 HG01071.hp1 HG01123.hp1 HG01192.hp2 HG01255.hp2 HG01346.hp2 HG01993.hp1 HG02895.hp2 HG03834.hp1 HG04115.hp2 HG04204.hp1 NA18952.hp1 NA18981.hp2 NA19062.hp2 NA20752.hp1 NA20805.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0006 a0002c0004 a0005c0013 a0001c0006 a0002c0004 a0005c0013	a0001c0006t0001 a0001c0006t0002 a0001c0006t0010 others(3): Show a0001c0006t0001 a0001c0006t0002 a0001c0006t0010 a0001c0006t0011 a0002c0004t0003 a0005c0013t0001	a0001c0006t0001g0063 a0001c0006t0002g0037 a0001c0006t0002g0044 others(15): Show a0001c0006t0001g0063 a0001c0006t0002g0037 a0001c0006t0002g0044 a0001c0006t0010g0027 a0001c0006t0011g0111 a0002c0004t0003g0042 a0002c0004t0003g0057 a0002c0004t0003g0060 a0002c0004t0003g0061 a0002c0004t0003g0065 a0002c0004t0003g0089 a0002c0004t0003g0090 a0002c0004t0003g0092 a0002c0004t0003g0093 a0002c0004t0003g0095 a0002c0004t0003g0097 a0002c0004t0003g0103 a0005c0013t0001g0001	18	112	0.1607	c.561 others(3): Show c.561G>C	p.Pro others(6): Show p.Pro187Pro	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	3/23	597/7138	561/3885	187/1294	chr1	TogoVar
ASTN2_chr9_116418112_117420057	116426027	G G	T T	synonymous_variant synonymous_variant	LOW	HG01243.hp2 HG01261.hp1 HG02922.hp1 others(3): Show HG01243.hp2 HG01261.hp1 HG02922.hp1 HG03130.hp2 NA19043.hp1 NA21309.hp2	a0001 a0001	a0001c0005 a0001c0008 a0001c0005 a0001c0008	a0001c0005t0005 a0001c0008t0005 a0001c0005t0005 a0001c0008t0005	a0001c0005t0005g0007 a0001c0005t0005g0048 a0001c0005t0005g0076 others(3): Show a0001c0005t0005g0007 a0001c0005t0005g0048 a0001c0005t0005g0076 a0001c0005t0005g0084 a0001c0008t0005g0073 a0001c0008t0005g0081	6	102	0.0588	c.384 others(4): Show c.3844C>A	p.Arg others(7): Show p.Arg1282Arg	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	23/23	3963/6878	3844/4020	1282/1339	chr9	TogoVar

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