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	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
ACSL1_chr4_184750595_184830968	184788737	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01069.hp1 HG01167.hp2 HG01169.hp1 others(5): Show HG01069.hp1 HG01167.hp2 HG01169.hp1 HG01433.hp2 HG02451.hp2 HG02970.hp2 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0346 a0001c0001t0004g0347 a0001c0001t0004g0360 others(5): Show a0001c0001t0004g0346 a0001c0001t0004g0347 a0001c0001t0004g0360 a0001c0001t0004g0361 a0001c0001t0004g0362 a0001c0001t0004g0364 a0001c0001t0004g0365 a0001c0001t0004g0366	8	392	0.0204	0	c.196 others(5): Show c.196-6T>C		ACSL1	ENSG00000151726.16	transcript	ENST00000281455.7	protein_coding	2/20					chr4	TogoVar
ACSL4_chrX_109636335_109738257	109663409	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0171 a0001c0001t0009g0171	1	222	0.0045	0	c.139 others(6): Show c.1391-7T>C		ACSL4	ENSG00000068366.21	transcript	ENST00000672401.1	protein_coding	12/15					chrX	TogoVar
ACSL5_chr10_112369116_112433376	112426862	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0193 a0001c0001t0005g0193	1	364	0.0028	0	c.191 others(6): Show c.1911+3G>A		ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	20/20					chr10	TogoVar
ACSL5_chr10_112369116_112433376	112426864	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0193 a0001c0001t0005g0193	1	364	0.0028	0	c.191 others(6): Show c.1911+5G>A		ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	20/20					chr10	TogoVar
ACSL5_chr10_112369116_112433376	112426865	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0193 a0001c0001t0005g0193	1	364	0.0028	0	c.191 others(6): Show c.1911+6T>A		ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	20/20					chr10	TogoVar
ACSL5_chr10_112369116_112433376	112426866	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(348): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01258.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008	a0001c0001 a0001c0003 a0001c0005 others(8): Show a0001c0001 a0001c0003 a0001c0005 a0001c0010 a0001c0012 a0002c0002 a0003c0004 a0004c0006 a0006c0011 a0007c0008 a0008c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0003t0002 a0001c0005t0001 a0001c0010t0001 a0001c0012t0001 a0002c0002t0003 a0003c0004t0002 a0004c0006t0001 a0006c0011t0001 a0007c0008t0002 a0008c0007t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(343): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0269 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0354 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0106 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0197 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0250 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0279 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0301 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0313 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0320 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0326 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0348 a0001c0001t0002g0349 a0001c0001t0002g0350 a0001c0001t0002g0351 a0001c0001t0002g0352 a0001c0001t0002g0353 a0001c0001t0002g0355 a0001c0001t0003g0007 a0001c0001t0003g0234 a0001c0001t0003g0312 a0001c0001t0003g0314 a0001c0001t0003g0319 a0001c0001t0003g0321 a0001c0001t0003g0324 a0001c0001t0003g0325 a0001c0001t0003g0337 a0001c0001t0003g0340 a0001c0001t0003g0341 a0001c0001t0003g0342 a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0102 a0001c0001t0006g0023 a0001c0001t0007g0009 a0001c0003t0002g0265 a0001c0003t0002g0266 a0001c0003t0002g0267 a0001c0003t0002g0268 a0001c0005t0001g0258 a0001c0005t0001g0272 a0001c0010t0001g0167 a0001c0012t0001g0282 a0002c0002t0003g0002 a0002c0002t0003g0037 a0002c0002t0003g0038 a0002c0002t0003g0039 a0002c0002t0003g0040 a0002c0002t0003g0042 a0002c0002t0003g0043 a0002c0002t0003g0044 a0002c0002t0003g0045 a0002c0002t0003g0046 a0002c0002t0003g0047 a0002c0002t0003g0048 a0002c0002t0003g0049 a0002c0002t0003g0050 a0002c0002t0003g0051 a0002c0002t0003g0052 a0002c0002t0003g0053 a0002c0002t0003g0054 a0002c0002t0003g0055 a0002c0002t0003g0056 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0003g0061 a0003c0004t0002g0327 a0003c0004t0002g0329 a0003c0004t0002g0330 a0003c0004t0002g0347 a0004c0006t0001g0062 a0004c0006t0001g0086 a0006c0011t0001g0077 a0007c0008t0002g0328 a0008c0007t0002g0309	351	364	0.9643	0	c.191 others(6): Show c.1911+7G>A		ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	20/20					chr10	TogoVar
ACSL5_chr10_112369116_112433376	112426867	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0193 a0001c0001t0005g0193	1	364	0.0028	0	c.191 others(6): Show c.1911+8C>T		ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	20/20					chr10	TogoVar
ACSL6_chr5_131944973_132016658	131962527	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02615.hp2 HG03041.hp1 HG02615.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0188 a0001c0001t0011g0253 a0001c0001t0011g0188 a0001c0001t0011g0253	2	326	0.0061	0	c.185 others(6): Show c.1857+8C>T		ACSL6	ENSG00000164398.15	transcript	ENST00000651883.2	protein_coding	18/20					chr5	TogoVar
ACSL6_chr5_131944973_132016658	131966417	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA20300.hp1 NA20300.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0004 a0004c0008t0004	a0004c0008t0004g0119 a0004c0008t0004g0119	1	326	0.0031	0	c.171 others(4): Show c.1712C>T	p.Pro others(6): Show p.Pro571Leu	ACSL6	ENSG00000164398.15	transcript	ENST00000651883.2	protein_coding	17/21	1817/6535	1712/2169	571/722		chr5	TogoVar
ACSL6_chr5_131944973_132016658	131985466	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00639.hp1 HG00642.hp2 others(12): Show HG00099.hp1 HG00639.hp1 HG00642.hp2 HG00735.hp2 HG00741.hp2 HG01069.hp2 HG01099.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01256.hp1 HG01258.hp2 HG02109.hp1 HG02273.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0103 others(7): Show a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0103 a0001c0001t0001g0238 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249	15	326	0.0460	0	c.865 others(5): Show c.865-8C>G		ACSL6	ENSG00000164398.15	transcript	ENST00000651883.2	protein_coding	8/20					chr5	TogoVar
ACSL6_chr5_131944973_132016658	131994250	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18945.hp2 NA19078.hp2 NA18945.hp2 NA19078.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0093 a0001c0002t0001g0094	2	326	0.0061	0	c.51G others(2): Show c.51G>A	p.Glu others(5): Show p.Glu17Glu	ACSL6	ENSG00000164398.15	transcript	ENST00000651883.2	protein_coding	2/21	156/6535	51/2169	17/722		chr5	TogoVar
ACSM1_chr16_20618235_20702680	20624096	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00140.hp2 HG00280.hp2 HG00408.hp2 others(70): Show HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp2 HG00609.hp1 HG00621.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01071.hp2 HG01081.hp2 HG01123.hp1 HG01361.hp2 HG01516.hp2 HG01517.hp2 HG01943.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02735.hp1 HG03130.hp1 HG03654.hp2 HG03831.hp1 HG03942.hp1 HG04228.hp1 NA18612.hp1 NA18939.hp1 NA18940.hp2 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp2 NA18954.hp2 NA18956.hp1 NA18961.hp1 NA18966.hp1 NA18967.hp2 NA18968.hp2 NA18972.hp2 NA18973.hp1 NA18977.hp2 NA18978.hp1 NA18981.hp2 NA18982.hp1 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18992.hp1 NA18994.hp1 NA19001.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19064.hp2 NA19065.hp1 NA19070.hp2 NA19072.hp2 NA19077.hp2 NA19080.hp2 NA19084.hp1 NA19088.hp1 NA19090.hp2 NA19091.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0001c0007 a0003c0006 a0001c0003 a0001c0007 a0003c0006	a0001c0003t0001 a0001c0003t0004 a0001c0003t0005 others(2): Show a0001c0003t0001 a0001c0003t0004 a0001c0003t0005 a0001c0007t0001 a0003c0006t0001	a0001c0003t0001g0017 a0001c0003t0001g0032 a0001c0003t0001g0034 others(70): Show a0001c0003t0001g0017 a0001c0003t0001g0032 a0001c0003t0001g0034 a0001c0003t0001g0047 a0001c0003t0001g0048 a0001c0003t0001g0049 a0001c0003t0001g0086 a0001c0003t0001g0088 a0001c0003t0001g0092 a0001c0003t0001g0093 a0001c0003t0001g0103 a0001c0003t0001g0105 a0001c0003t0001g0109 a0001c0003t0001g0114 a0001c0003t0001g0115 a0001c0003t0001g0118 a0001c0003t0001g0119 a0001c0003t0001g0120 a0001c0003t0001g0121 a0001c0003t0001g0125 a0001c0003t0001g0126 a0001c0003t0001g0127 a0001c0003t0001g0128 a0001c0003t0001g0129 a0001c0003t0001g0130 a0001c0003t0001g0131 a0001c0003t0001g0132 a0001c0003t0001g0134 a0001c0003t0001g0135 a0001c0003t0001g0137 a0001c0003t0001g0138 a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0001g0141 a0001c0003t0001g0142 a0001c0003t0001g0143 a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0146 a0001c0003t0001g0148 a0001c0003t0001g0149 a0001c0003t0001g0151 a0001c0003t0001g0152 a0001c0003t0001g0154 a0001c0003t0001g0174 a0001c0003t0001g0176 a0001c0003t0001g0179 a0001c0003t0001g0180 a0001c0003t0001g0181 a0001c0003t0001g0183 a0001c0003t0001g0190 a0001c0003t0001g0196 a0001c0003t0001g0198 a0001c0003t0001g0205 a0001c0003t0001g0219 a0001c0003t0001g0221 a0001c0003t0001g0245 a0001c0003t0001g0256 a0001c0003t0001g0257 a0001c0003t0001g0284 a0001c0003t0001g0285 a0001c0003t0001g0304 a0001c0003t0001g0305 a0001c0003t0001g0307 a0001c0003t0001g0314 a0001c0003t0004g0108 a0001c0003t0005g0033 a0001c0007t0001g0005 a0001c0007t0001g0067 a0001c0007t0001g0069 a0003c0006t0001g0116 a0003c0006t0001g0117 a0003c0006t0001g0150	73	318	0.2296	0	c.164 others(4): Show c.1647G>A	p.Lys others(6): Show p.Lys549Lys	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	13/14	1743/2081	1647/1734	549/577		chr16	TogoVar
ACSM1_chr16_20618235_20702680	20627316	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02615.hp2 HG02896.hp1 HG02615.hp2 HG02896.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0082 a0006c0009t0001g0101 a0006c0009t0001g0082 a0006c0009t0001g0101	2	318	0.0063	0	c.130 others(4): Show c.1300G>A	p.Gly others(6): Show p.Gly434Ser	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	11/14	1396/2081	1300/1734	434/577		chr16	TogoVar
ACSM2A_chr16_20446521_20492669	20465514	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18941.hp2 NA18941.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0245 a0002c0002t0003g0245	1	436	0.0023	0	c.178 others(5): Show c.178-3C>T		ACSM2A	ENSG00000183747.12	transcript	ENST00000573854.6	protein_coding	2/13					chr16	TogoVar
ACSM2A_chr16_20446521_20492669	20480928	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	436	0.0023	0	c.150 others(6): Show c.1509+7G>A		ACSM2A	ENSG00000183747.12	transcript	ENST00000573854.6	protein_coding	12/13					chr16	TogoVar
ACSM2B_chr16_20531226_20581367	20540654	C C	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03831.hp1 NA19064.hp1 HG03831.hp1 NA19064.hp1	a0011 a0011	a0011c0021 a0011c0021	a0011c0021t0001 a0011c0021t0001	a0011c0021t0001g0193 a0011c0021t0001g0194 a0011c0021t0001g0193 a0011c0021t0001g0194	2	388	0.0052	0	c.162 others(4): Show c.1629G>C	p.Lys others(6): Show p.Lys543Asn	ACSM2B	ENSG00000066813.14	transcript	ENST00000329697.10	protein_coding	13/14	1798/2935	1629/1734	543/577		chr16	TogoVar
ACSM2B_chr16_20531226_20581367	20543260	T T	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00741.hp2 HG01099.hp2 HG01884.hp1 others(55): Show HG00741.hp2 HG01099.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03704.hp1 HG03927.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp2 NA19043.hp2 NA20129.hp1	a0003 a0004 a0006 others(3): Show a0003 a0004 a0006 a0008 a0010 a0016	a0003c0007 a0003c0008 a0003c0025 others(8): Show a0003c0007 a0003c0008 a0003c0025 a0003c0033 a0004c0005 a0006c0010 a0006c0020 a0008c0013 a0010c0022 a0010c0023 a0016c0028	a0003c0007t0003 a0003c0007t0004 a0003c0007t0007 others(16): Show a0003c0007t0003 a0003c0007t0004 a0003c0007t0007 a0003c0007t0014 a0003c0008t0001 a0003c0008t0003 a0003c0008t0011 a0003c0008t0015 a0003c0025t0003 a0003c0033t0003 a0004c0005t0006 a0006c0010t0003 a0006c0010t0017 a0006c0020t0003 a0006c0020t0020 a0008c0013t0002 a0010c0022t0008 a0010c0023t0027 a0016c0028t0003	a0003c0007t0003g0119 a0003c0007t0003g0120 a0003c0007t0003g0240 others(53): Show a0003c0007t0003g0119 a0003c0007t0003g0120 a0003c0007t0003g0240 a0003c0007t0004g0310 a0003c0007t0007g0229 a0003c0007t0007g0281 a0003c0007t0007g0322 a0003c0007t0014g0340 a0003c0007t0014g0341 a0003c0007t0014g0342 a0003c0007t0014g0343 a0003c0008t0001g0319 a0003c0008t0003g0122 a0003c0008t0011g0316 a0003c0008t0011g0317 a0003c0008t0011g0320 a0003c0008t0011g0321 a0003c0008t0015g0031 a0003c0008t0015g0318 a0003c0025t0003g0121 a0003c0033t0003g0174 a0004c0005t0006g0040 a0004c0005t0006g0045 a0004c0005t0006g0086 a0004c0005t0006g0087 a0004c0005t0006g0088 a0004c0005t0006g0089 a0004c0005t0006g0091 a0004c0005t0006g0092 a0004c0005t0006g0093 a0004c0005t0006g0094 a0004c0005t0006g0095 a0004c0005t0006g0096 a0004c0005t0006g0097 a0004c0005t0006g0098 a0004c0005t0006g0099 a0004c0005t0006g0100 a0004c0005t0006g0101 a0004c0005t0006g0102 a0004c0005t0006g0103 a0006c0010t0003g0011 a0006c0010t0003g0114 a0006c0010t0003g0115 a0006c0010t0003g0116 a0006c0010t0003g0117 a0006c0010t0017g0037 a0006c0010t0017g0038 a0006c0020t0003g0105 a0006c0020t0020g0034 a0008c0013t0002g0106 a0008c0013t0002g0107 a0008c0013t0002g0108 a0008c0013t0002g0109 a0010c0022t0008g0325 a0010c0023t0027g0332 a0016c0028t0003g0118	58	388	0.1495	0	c.128 others(4): Show c.1284A>C	p.Glu others(6): Show p.Glu428Asp	ACSM2B	ENSG00000066813.14	transcript	ENST00000329697.10	protein_coding	11/14	1453/2935	1284/1734	428/577		chr16	TogoVar
ACSM2B_chr16_20531226_20581367	20559453	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp2 HG02109.hp1 HG02257.hp1 others(13): Show HG01884.hp2 HG02109.hp1 HG02257.hp1 HG02280.hp1 HG02615.hp2 HG02647.hp2 HG02717.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG03453.hp1 HG03486.hp1 NA18522.hp1	a0001 a0006 a0008 others(1): Show a0001 a0006 a0008 a0014	a0001c0002 a0001c0006 a0006c0010 others(2): Show a0001c0002 a0001c0006 a0006c0010 a0008c0013 a0014c0026	a0001c0002t0002 a0001c0002t0003 a0001c0006t0011 others(4): Show a0001c0002t0002 a0001c0002t0003 a0001c0006t0011 a0006c0010t0003 a0006c0010t0017 a0008c0013t0002 a0014c0026t0002	a0001c0002t0002g0111 a0001c0002t0003g0112 a0001c0006t0011g0110 others(12): Show a0001c0002t0002g0111 a0001c0002t0003g0112 a0001c0006t0011g0110 a0006c0010t0003g0011 a0006c0010t0003g0114 a0006c0010t0003g0115 a0006c0010t0003g0116 a0006c0010t0003g0117 a0006c0010t0017g0037 a0006c0010t0017g0038 a0008c0013t0002g0106 a0008c0013t0002g0107 a0008c0013t0002g0108 a0008c0013t0002g0109 a0014c0026t0002g0113	16	388	0.0412	0	c.178 others(5): Show c.178-6C>A		ACSM2B	ENSG00000066813.14	transcript	ENST00000329697.10	protein_coding	2/13					chr16	TogoVar
ACSM2B_chr16_20531226_20581367	20576204	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01168.hp1 HG01169.hp1 HG01891.hp1 others(12): Show HG01168.hp1 HG01169.hp1 HG01891.hp1 HG02451.hp1 HG02630.hp1 HG02630.hp2 HG02738.hp2 HG02922.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp2 HG03927.hp2 HG04199.hp2 NA18906.hp1 NA19240.hp1	a0005 a0009 a0010 a0005 a0009 a0010	a0005c0011 a0005c0016 a0005c0024 others(3): Show a0005c0011 a0005c0016 a0005c0024 a0009c0015 a0010c0022 a0010c0023	a0005c0011t0008 a0005c0011t0019 a0005c0011t0026 others(7): Show a0005c0011t0008 a0005c0011t0019 a0005c0011t0026 a0005c0016t0016 a0005c0016t0028 a0005c0016t0029 a0005c0024t0016 a0009c0015t0008 a0010c0022t0008 a0010c0023t0027	a0005c0011t0008g0328 a0005c0011t0008g0330 a0005c0011t0008g0331 others(10): Show a0005c0011t0008g0328 a0005c0011t0008g0330 a0005c0011t0008g0331 a0005c0011t0019g0033 a0005c0011t0026g0327 a0005c0016t0016g0326 a0005c0016t0028g0333 a0005c0016t0029g0324 a0005c0024t0016g0334 a0009c0015t0008g0032 a0009c0015t0008g0329 a0010c0022t0008g0325 a0010c0023t0027g0332	15	388	0.0387	0	c.-9+ others(4): Show c.-9+3G>A		ACSM2B	ENSG00000066813.14	transcript	ENST00000329697.10	protein_coding	1/13					chr16	TogoVar
ACSM3_chr16_20759014_20802581	20777583	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03704.hp2 HG03927.hp2 HG03704.hp2 HG03927.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0094 a0006c0007t0001g0095 a0006c0007t0001g0094 a0006c0007t0001g0095	2	356	0.0056	0	c.638 others(5): Show c.638+3G>A		ACSM3	ENSG00000005187.12	transcript	ENST00000289416.10	protein_coding	4/13					chr16	TogoVar
ACSM3_chr16_20759014_20802581	20792236	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0207 a0001c0012t0001g0207	1	356	0.0028	0	c.145 others(4): Show c.1455C>T	p.Gly others(6): Show p.Gly485Gly	ACSM3	ENSG00000005187.12	transcript	ENST00000289416.10	protein_coding	12/14	1618/2533	1455/1761	485/586		chr16	TogoVar
ACSM3_chr16_20759014_20802581	20796363	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18967.hp2 NA19055.hp2 NA18967.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0154 a0001c0001t0001g0147 a0001c0001t0001g0154	2	356	0.0056	0	c.155 others(6): Show c.1555-7A>G		ACSM3	ENSG00000005187.12	transcript	ENST00000289416.10	protein_coding	12/13					chr16	TogoVar
ACSM4_chr12_7299072_7333719	7317286	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01358.hp1 HG01891.hp1 HG01952.hp1 others(13): Show HG01358.hp1 HG01891.hp1 HG01952.hp1 HG02258.hp1 HG02486.hp1 HG02717.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG03041.hp2 HG03209.hp2 HG03453.hp2 HG03516.hp2 NA19240.hp1 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0008 a0002c0003t0004g0071 a0002c0003t0004g0090 others(2): Show a0002c0003t0004g0008 a0002c0003t0004g0071 a0002c0003t0004g0090 a0002c0003t0004g0091 a0002c0003t0004g0092	16	430	0.0372	0	c.764 others(5): Show c.764+6G>A		ACSM4	ENSG00000215009.6	transcript	ENST00000399422.5	protein_coding	4/12					chr12	TogoVar
ACSM5_chr16_20404534_20446336	20418259	C C	CATGCGG CATGCGG	disruptive_inframe_insertion others(1): Show disruptive_inframe_insertion splice_region_variant	MODERATE	NA18978.hp1 NA18978.hp2 NA19090.hp2 NA18978.hp1 NA18978.hp2 NA19090.hp2	a0014 a0021 a0014 a0021	a0014c0019 a0021c0042 a0014c0019 a0021c0042	a0014c0019t0001 a0014c0019t0021 a0021c0042t0003 a0014c0019t0001 a0014c0019t0021 a0021c0042t0003	a0014c0019t0001g0252 a0014c0019t0021g0106 a0021c0042t0003g0118 a0014c0019t0001g0252 a0014c0019t0021g0106 a0021c0042t0003g0118	3	434	0.0069	6	c.407 others(13): Show c.407_412dupTGCGGA	p.Met others(13): Show p.Met136_Arg137dup	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	3/14	560/2796	413/1740	138/579	INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20421258	G G	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0001 a0001c0040t0001	a0001c0040t0001g0238 a0001c0040t0001g0238	1	434	0.0023	0	c.624 others(3): Show c.624G>T	p.Arg others(6): Show p.Arg208Arg	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	5/14	771/2796	624/1740	208/579		chr16	TogoVar
ACSM5_chr16_20404534_20446336	20439925	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02257.hp2 HG02630.hp1 HG02257.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0021 a0001c0001 a0001c0021	a0001c0001t0006 a0001c0021t0006 a0001c0001t0006 a0001c0021t0006	a0001c0001t0006g0296 a0001c0021t0006g0297 a0001c0001t0006g0296 a0001c0021t0006g0297	2	434	0.0046	0	c.165 others(6): Show c.1656+6T>C		ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	13/13					chr16	TogoVar
ACSM6_chr10_95189238_95233929	95194309	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00609.hp1 HG00609.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0040 a0002c0002t0001g0040	1	314	0.0032	0	c.-22 others(5): Show c.-22+6T>G		ACSM6	ENSG00000173124.15	transcript	ENST00000394005.4	protein_coding	1/10					chr10	TogoVar
ACSM6_chr10_95189238_95233929	95207197	GT GT	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(108): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00609.hp1 HG00642.hp2 HG00735.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01978.hp2 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02258.hp1 HG02258.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02818.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03017.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18944.hp1 NA18959.hp2 NA19030.hp1 NA19060.hp1 NA19079.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009	a0001c0001 a0002c0002 a0002c0005 others(6): Show a0001c0001 a0002c0002 a0002c0005 a0003c0003 a0004c0004 a0005c0006 a0007c0009 a0008c0007 a0009c0010	a0001c0001t0001 a0002c0002t0001 a0002c0005t0001 others(6): Show a0001c0001t0001 a0002c0002t0001 a0002c0005t0001 a0003c0003t0001 a0004c0004t0001 a0005c0006t0001 a0007c0009t0001 a0008c0007t0001 a0009c0010t0001	a0001c0001t0001g0042 a0002c0002t0001g0006 a0002c0002t0001g0007 others(83): Show a0001c0001t0001g0042 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0216 a0002c0005t0001g0007 a0002c0005t0001g0189 a0002c0005t0001g0193 a0002c0005t0001g0211 a0002c0005t0001g0215 a0003c0003t0001g0010 a0003c0003t0001g0019 a0003c0003t0001g0033 a0003c0003t0001g0034 a0003c0003t0001g0036 a0003c0003t0001g0149 a0003c0003t0001g0151 a0003c0003t0001g0152 a0003c0003t0001g0153 a0003c0003t0001g0154 a0003c0003t0001g0155 a0003c0003t0001g0156 a0003c0003t0001g0157 a0003c0003t0001g0158 a0003c0003t0001g0159 a0003c0003t0001g0160 a0003c0003t0001g0170 a0003c0003t0001g0171 a0003c0003t0001g0172 a0003c0003t0001g0173 a0003c0003t0001g0174 a0003c0003t0001g0175 a0003c0003t0001g0176 a0003c0003t0001g0177 a0003c0003t0001g0178 a0003c0003t0001g0179 a0003c0003t0001g0183 a0003c0003t0001g0184 a0003c0003t0001g0188 a0003c0003t0001g0206 a0003c0003t0001g0207 a0004c0004t0001g0005 a0004c0004t0001g0018 a0004c0004t0001g0035 a0004c0004t0001g0161 a0004c0004t0001g0162 a0004c0004t0001g0163 a0004c0004t0001g0164 a0004c0004t0001g0165 a0004c0004t0001g0166 a0004c0004t0001g0167 a0005c0006t0001g0168 a0005c0006t0001g0169 a0007c0009t0001g0041 a0008c0007t0001g0098 a0009c0010t0001g0150	111	314	0.3535	-1	c.404 others(6): Show c.404-4delT		ACSM6	ENSG00000173124.15	transcript	ENST00000394005.4	protein_coding	3/10				INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSM6_chr10_95189238_95233929	95219888	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00323.hp1 HG00280.hp1 HG00323.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0189 a0002c0005t0001g0215 a0002c0005t0001g0189 a0002c0005t0001g0215	2	314	0.0064	0	c.112 others(6): Show c.1120-3C>T		ACSM6	ENSG00000173124.15	transcript	ENST00000394005.4	protein_coding	8/10					chr10	TogoVar
ACSS1_chr20_25001237_25063139	25020004	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02145.hp1 HG02818.hp2 NA18522.hp2 others(3): Show HG02145.hp1 HG02818.hp2 NA18522.hp2 NA19030.hp2 NA19043.hp1 NA21309.hp1	a0002 a0004 a0002 a0004	a0002c0009 a0004c0019 a0002c0009 a0004c0019	a0002c0009t0001 a0004c0019t0001 a0002c0009t0001 a0004c0019t0001	a0002c0009t0001g0148 a0002c0009t0001g0149 a0002c0009t0001g0166 others(3): Show a0002c0009t0001g0148 a0002c0009t0001g0149 a0002c0009t0001g0166 a0002c0009t0001g0196 a0002c0009t0001g0203 a0004c0019t0001g0026	6	244	0.0246	0	c.124 others(6): Show c.1246+6C>T		ACSS1	ENSG00000154930.15	transcript	ENST00000323482.9	protein_coding	7/13					chr20	TogoVar
ACSS2_chr20_34871612_34932959	34914317	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02572.hp1 HG02717.hp2 HG02723.hp2 others(7): Show HG02572.hp1 HG02717.hp2 HG02723.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03471.hp2 HG03579.hp1 NA18906.hp2	a0002 a0006 a0002 a0006	a0002c0004 a0006c0012 a0002c0004 a0006c0012	a0002c0004t0001 a0006c0012t0001 a0002c0004t0001 a0006c0012t0001	a0002c0004t0001g0009 a0002c0004t0001g0013 a0002c0004t0001g0014 others(7): Show a0002c0004t0001g0009 a0002c0004t0001g0013 a0002c0004t0001g0014 a0002c0004t0001g0145 a0002c0004t0001g0146 a0002c0004t0001g0147 a0002c0004t0001g0148 a0002c0004t0001g0149 a0002c0004t0001g0150 a0006c0012t0001g0011	10	312	0.0321	0	c.720 others(5): Show c.720-6C>T		ACSS2	ENSG00000131069.20	transcript	ENST00000360596.7	protein_coding	6/17					chr20	TogoVar
ACSS2_chr20_34871612_34932959	34914320	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0109 a0001c0002t0001g0109	1	312	0.0032	0	c.720 others(5): Show c.720-3C>T		ACSS2	ENSG00000131069.20	transcript	ENST00000360596.7	protein_coding	6/17					chr20	TogoVar
ACSS3_chr12_81073079_81266210	81231052	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0199 a0001c0002t0002g0199	1	290	0.0035	0	c.151 others(6): Show c.1515-5A>G		ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	11/15					chr12	TogoVar
ACTA1_chr1_229426245_229439094	229432190	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	450	0.0022	0	c.617 others(5): Show c.617-5C>T		ACTA1	ENSG00000143632.15	transcript	ENST00000366684.7	protein_coding	4/6					chr1	TogoVar
ACTA1_chr1_229426245_229439094	229432557	G G	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01106.hp1 HG02451.hp2 HG03471.hp2 HG01106.hp1 HG02451.hp2 HG03471.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0011 a0001c0003t0001g0011	3	450	0.0067	0	c.453 others(3): Show c.453C>A	p.Thr others(6): Show p.Thr151Thr	ACTA1	ENSG00000143632.15	transcript	ENST00000366684.7	protein_coding	3/7	556/1491	453/1134	151/377		chr1	TogoVar
ACTA1_chr1_229426245_229439094	229432878	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0030 a0001c0006t0001g0030	1	450	0.0022	0	c.132 others(3): Show c.132C>T	p.Gly others(5): Show p.Gly44Gly	ACTA1	ENSG00000143632.15	transcript	ENST00000366684.7	protein_coding	3/7	235/1491	132/1134	44/377		chr1	TogoVar
ACTA1_chr1_229426245_229439094	229432885	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00140.hp2 HG00438.hp2 others(116): Show HG00099.hp2 HG00140.hp2 HG00438.hp2 HG00639.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp2 HG02074.hp2 HG02080.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03710.hp2 HG03942.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp2 NA18945.hp2 NA18954.hp1 NA18967.hp1 NA18968.hp1 NA18977.hp2 NA18980.hp2 NA18984.hp1 NA18984.hp2 NA18998.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19060.hp2 NA19079.hp2 NA19082.hp1 NA19085.hp1 NA19087.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(13): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0002t0001g0010 a0001c0003t0001g0011 a0001c0004t0001g0012 a0001c0005t0001g0022	119	450	0.2644	0	c.130 others(5): Show c.130-5T>C		ACTA1	ENSG00000143632.15	transcript	ENST00000366684.7	protein_coding	2/6					chr1	TogoVar
ACTA2_chr10_88930074_88957773	88939508	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0067 a0001c0002t0001g0067	1	402	0.0025	0	c.807 others(3): Show c.807C>T	p.Ile others(6): Show p.Ile269Ile	ACTA2	ENSG00000107796.13	transcript	ENST00000224784.10	protein_coding	7/9	873/1349	807/1134	269/377		chr10	TogoVar
ACTB_chr7_5522148_5535601	5527897	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp2 HG03486.hp1 HG01891.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0045 a0001c0001t0004g0046 a0001c0001t0001g0045 a0001c0001t0004g0046	2	370	0.0054	0	c.985 others(5): Show c.985-6C>T		ACTB	ENSG00000075624.17	transcript	ENST00000646664.1	protein_coding	5/5					chr7	TogoVar
ACTB_chr7_5522148_5535601	5529407	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0035 a0001c0001t0010g0035	1	370	0.0027	0	c.124 others(5): Show c.124-7T>A		ACTB	ENSG00000075624.17	transcript	ENST00000646664.1	protein_coding	2/5					chr7	TogoVar
ACTB_chr7_5522148_5535601	5530525	T T	TGGCGGCG others(10): Show TGGCGGCGGGTGTGGACG	splice_region_variant splice_region_variant	LOW	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0025 a0001c0001t0015g0025	2	370	0.0054	17	c.-25 others(23): Show c.-25_-9dupCGTCCACACCCGCCGCC		ACTB	ENSG00000075624.17	transcript	ENST00000646664.1	protein_coding	1/6					chr7	TogoVar
ACTG1_chr17_81504971_81517799	81511114	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0044 a0001c0002t0001g0044	1	370	0.0027	0	c.803 others(5): Show c.803-6C>T		ACTG1	ENSG00000184009.13	transcript	ENST00000573283.7	protein_coding	4/5					chr17	TogoVar
ACTG1_chr17_81504971_81517799	81511900	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0036 a0001c0001t0015g0036	1	370	0.0027	0	c.363 others(5): Show c.363+3G>A		ACTG1	ENSG00000184009.13	transcript	ENST00000573283.7	protein_coding	3/5					chr17	TogoVar
ACTG1_chr17_81504971_81517799	81512140	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0046 a0001c0019t0001g0046	1	370	0.0027	0	c.126 others(3): Show c.126C>T	p.Gly others(5): Show p.Gly42Gly	ACTG1	ENSG00000184009.13	transcript	ENST00000573283.7	protein_coding	3/6	198/1919	126/1128	42/375		chr17	TogoVar
ACTG1_chr17_81504971_81517799	81512150	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0056 a0001c0004t0003g0056	1	370	0.0027	0	c.124 others(5): Show c.124-8C>T		ACTG1	ENSG00000184009.13	transcript	ENST00000573283.7	protein_coding	2/5					chr17	TogoVar
ACTG2_chr2_73888008_73924865	73893054	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00423.hp1 HG00544.hp2 others(151): Show HG00140.hp1 HG00423.hp1 HG00544.hp2 HG00741.hp1 HG01070.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01346.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp1 HG02080.hp1 HG02080.hp2 HG02148.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02300.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03486.hp1 HG03516.hp2 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp2 NA18946.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18986.hp2 NA18988.hp1 NA18990.hp2 NA18993.hp2 NA18994.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19003.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19058.hp2 NA19060.hp2 NA19064.hp1 NA19065.hp2 NA19067.hp2 NA19070.hp2 NA19079.hp2 NA19082.hp1 NA19083.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0009 a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 a0001c0005t0001	a0001c0001t0001g0016 a0001c0001t0001g0253 a0001c0001t0001g0254 others(147): Show a0001c0001t0001g0016 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0273 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0315 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0335 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0349 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0360 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0001g0378 a0001c0001t0001g0386 a0001c0001t0001g0389 a0001c0001t0002g0311 a0001c0001t0003g0002 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0255 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0317 a0001c0001t0003g0321 a0001c0001t0003g0322 a0001c0001t0003g0323 a0001c0001t0003g0326 a0001c0001t0003g0337 a0001c0001t0003g0345 a0001c0001t0003g0368 a0001c0001t0003g0376 a0001c0001t0003g0377 a0001c0001t0003g0379 a0001c0001t0003g0393 a0001c0001t0004g0394 a0001c0001t0005g0358 a0001c0001t0005g0359 a0001c0001t0005g0369 a0001c0001t0005g0373 a0001c0001t0005g0374 a0001c0001t0005g0381 a0001c0001t0005g0382 a0001c0001t0005g0383 a0001c0001t0005g0388 a0001c0001t0005g0391 a0001c0001t0005g0392 a0001c0002t0001g0017 a0001c0002t0001g0258 a0001c0002t0001g0263 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0296 a0001c0002t0001g0331 a0001c0002t0001g0385 a0001c0002t0001g0397 a0001c0002t0002g0264 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0282 a0001c0002t0002g0285 a0001c0002t0002g0288 a0001c0002t0002g0290 a0001c0002t0002g0291 a0001c0002t0002g0295 a0001c0002t0002g0299 a0001c0002t0002g0300 a0001c0002t0002g0301 a0001c0002t0002g0303 a0001c0002t0002g0305 a0001c0002t0002g0307 a0001c0002t0002g0308 a0001c0002t0002g0309 a0001c0002t0002g0310 a0001c0002t0002g0314 a0001c0002t0002g0316 a0001c0002t0002g0330 a0001c0002t0002g0336 a0001c0002t0002g0344 a0001c0002t0002g0350 a0001c0002t0003g0256 a0001c0002t0003g0257 a0001c0002t0003g0297 a0001c0002t0003g0332 a0001c0002t0003g0348 a0001c0002t0003g0354 a0001c0002t0003g0361 a0001c0002t0003g0375 a0001c0002t0003g0380 a0001c0002t0004g0277 a0001c0002t0004g0281 a0001c0002t0004g0283 a0001c0002t0004g0284 a0001c0002t0004g0286 a0001c0002t0004g0287 a0001c0002t0004g0289 a0001c0002t0004g0298 a0001c0002t0004g0302 a0001c0002t0004g0304 a0001c0002t0004g0306 a0001c0002t0004g0312 a0001c0002t0004g0313 a0001c0002t0004g0328 a0001c0002t0004g0333 a0001c0002t0004g0334 a0001c0002t0004g0346 a0001c0002t0004g0347 a0001c0002t0004g0351 a0001c0002t0004g0370 a0001c0002t0004g0371 a0001c0002t0004g0372 a0001c0002t0004g0384 a0001c0002t0009g0387 a0001c0003t0001g0396 a0001c0003t0002g0262 a0001c0003t0007g0395 a0001c0005t0001g0390	154	416	0.3702	0	c.-37 others(5): Show c.-37+3A>G		ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	1/8					chr2	TogoVar
ACTG2_chr2_73888008_73924865	73908670	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(210): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18962.hp1 NA18962.hp2 NA18967.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18981.hp2 NA18982.hp1 NA18986.hp1 NA18987.hp2 NA18988.hp2 NA18991.hp1 NA18992.hp1 NA18999.hp1 NA19000.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19009.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp2 NA19055.hp2 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA19089.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0002t0001 a0001c0005t0001 a0002c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(198): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0174 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0273 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0315 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0335 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0349 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0360 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0001g0378 a0001c0001t0001g0386 a0001c0001t0001g0389 a0001c0001t0002g0117 a0001c0001t0002g0222 a0001c0001t0002g0311 a0001c0001t0003g0002 a0001c0001t0003g0010 a0001c0001t0003g0033 a0001c0001t0003g0056 a0001c0001t0003g0063 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0080 a0001c0001t0003g0089 a0001c0001t0003g0096 a0001c0001t0003g0101 a0001c0001t0003g0103 a0001c0001t0003g0105 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0130 a0001c0001t0003g0135 a0001c0001t0003g0137 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0151 a0001c0001t0003g0175 a0001c0001t0003g0179 a0001c0001t0003g0187 a0001c0001t0003g0192 a0001c0001t0003g0194 a0001c0001t0003g0196 a0001c0001t0003g0199 a0001c0001t0003g0204 a0001c0001t0003g0209 a0001c0001t0003g0224 a0001c0001t0003g0229 a0001c0001t0003g0233 a0001c0001t0003g0247 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0255 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0317 a0001c0001t0003g0321 a0001c0001t0003g0322 a0001c0001t0003g0323 a0001c0001t0003g0326 a0001c0001t0003g0337 a0001c0001t0003g0345 a0001c0001t0003g0368 a0001c0001t0003g0376 a0001c0001t0003g0377 a0001c0001t0003g0379 a0001c0001t0003g0393 a0001c0001t0004g0003 a0001c0001t0004g0023 a0001c0001t0004g0073 a0001c0001t0004g0110 a0001c0001t0004g0394 a0001c0001t0005g0013 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0028 a0001c0001t0005g0054 a0001c0001t0005g0098 a0001c0001t0005g0178 a0001c0001t0005g0358 a0001c0001t0005g0359 a0001c0001t0005g0369 a0001c0001t0005g0373 a0001c0001t0005g0374 a0001c0001t0005g0381 a0001c0001t0005g0382 a0001c0001t0005g0383 a0001c0001t0005g0388 a0001c0001t0005g0391 a0001c0001t0005g0392 a0001c0001t0006g0249 a0001c0001t0007g0032 a0001c0001t0008g0038 a0001c0001t0008g0066 a0001c0002t0001g0181 a0001c0005t0001g0390 a0002c0004t0001g0131	213	416	0.5120	0	c.256 others(5): Show c.256-3T>C		ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	3/8					chr2	TogoVar
ACTG2_chr2_73888008_73924865	73913654	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00642.hp2 HG01175.hp2 HG01433.hp2 others(4): Show HG00642.hp2 HG01175.hp2 HG01433.hp2 HG01952.hp2 HG02056.hp1 HG02148.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0089 a0001c0001t0003g0137 others(3): Show a0001c0001t0003g0010 a0001c0001t0003g0089 a0001c0001t0003g0137 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0368	7	416	0.0168	0	c.613 others(5): Show c.613+8G>T		ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	6/8					chr2	TogoVar
ACTG2_chr2_73888008_73924865	73919434	T T	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01074.hp2 HG01074.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0131 a0002c0004t0001g0131	1	416	0.0024	0	c.990 others(3): Show c.990T>G	p.Ile others(6): Show p.Ile330Met	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	9/9	1070/1501	990/1131	330/376		chr2	TogoVar
ACTL8_chr1_17750333_17832063	17822981	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG01099.hp2 HG01106.hp1 HG00099.hp2 HG01099.hp2 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0285 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0285	3	366	0.0082	0	c.-24 others(5): Show c.-24-4G>A		ACTL8	ENSG00000117148.8	transcript	ENST00000375406.2	protein_coding	1/2					chr1	TogoVar

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