Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
COLEC12_chr18_311737_505701	334742	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00140.hp2 HG00323.hp1 HG00323.hp2 others(117): Show HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00735.hp1 HG00741.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01993.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02155.hp1 HG02165.hp2 HG02273.hp2 HG02280.hp2 HG02300.hp2 HG02486.hp1 HG02602.hp1 HG02683.hp2 HG02735.hp1 HG02818.hp1 HG02886.hp1 HG02896.hp2 HG02970.hp1 HG03017.hp1 HG03098.hp1 HG03195.hp2 HG03239.hp2 HG03486.hp2 HG03490.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03710.hp1 HG03942.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18939.hp1 NA18946.hp1 NA18946.hp2 NA18949.hp2 NA18952.hp1 NA18963.hp1 NA18964.hp2 NA18966.hp2 NA18968.hp1 NA18973.hp1 NA18975.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18989.hp1 NA18994.hp2 NA19002.hp1 NA19005.hp1 NA19006.hp1 NA19030.hp1 NA19043.hp2 NA19057.hp1 NA19067.hp2 NA19068.hp1 NA19074.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19087.hp1 NA19088.hp2 NA19090.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0002 a0005 a0007 others(2): Show a0002 a0005 a0007 a0008 a0010	a0002c0001 a0002c0007 a0002c0012 others(6): Show a0002c0001 a0002c0007 a0002c0012 a0002c0021 a0005c0014 a0005c0019 a0007c0011 a0008c0015 a0010c0020	a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 others(86): Show a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0008 a0002c0001t0010 a0002c0001t0015 a0002c0001t0019 a0002c0001t0020 a0002c0001t0021 a0002c0001t0023 a0002c0001t0034 a0002c0001t0035 a0002c0001t0037 a0002c0001t0044 a0002c0001t0045 a0002c0001t0046 a0002c0001t0047 a0002c0001t0048 a0002c0001t0049 a0002c0001t0070 a0002c0001t0071 a0002c0001t0072 a0002c0001t0073 a0002c0001t0095 a0002c0001t0101 a0002c0001t0103 a0002c0001t0104 a0002c0001t0113 a0002c0001t0123 a0002c0001t0125 a0002c0001t0136 a0002c0001t0137 a0002c0001t0141 a0002c0001t0145 a0002c0001t0149 a0002c0001t0150 a0002c0001t0152 a0002c0001t0159 a0002c0001t0160 a0002c0001t0161 a0002c0001t0171 a0002c0001t0173 a0002c0001t0177 a0002c0001t0178 a0002c0001t0180 a0002c0001t0181 a0002c0001t0182 a0002c0001t0183 a0002c0001t0184 a0002c0001t0195 a0002c0001t0196 a0002c0001t0198 a0002c0001t0201 a0002c0001t0203 a0002c0001t0206 a0002c0001t0210 a0002c0001t0214 a0002c0001t0216 a0002c0001t0217 a0002c0001t0219 a0002c0001t0222 a0002c0001t0224 a0002c0001t0231 a0002c0001t0232 a0002c0001t0234 a0002c0001t0235 a0002c0001t0237 a0002c0001t0240 a0002c0001t0241 a0002c0001t0244 a0002c0001t0249 a0002c0007t0001 a0002c0007t0026 a0002c0007t0045 a0002c0007t0085 a0002c0007t0117 a0002c0007t0132 a0002c0007t0176 a0002c0007t0223 a0002c0007t0230 a0002c0012t0169 a0002c0012t0179 a0002c0021t0233 a0005c0014t0034 a0005c0014t0115 a0005c0019t0170 a0007c0011t0040 a0008c0015t0229 a0010c0020t0213	a0002c0001t0001g0045 a0002c0001t0001g0052 a0002c0001t0001g0099 others(116): Show a0002c0001t0001g0045 a0002c0001t0001g0052 a0002c0001t0001g0099 a0002c0001t0001g0102 a0002c0001t0001g0122 a0002c0001t0001g0156 a0002c0001t0001g0267 a0002c0001t0001g0272 a0002c0001t0001g0273 a0002c0001t0001g0280 a0002c0001t0001g0290 a0002c0001t0002g0208 a0002c0001t0002g0231 a0002c0001t0003g0126 a0002c0001t0003g0136 a0002c0001t0003g0150 a0002c0001t0003g0253 a0002c0001t0003g0255 a0002c0001t0003g0274 a0002c0001t0008g0036 a0002c0001t0008g0183 a0002c0001t0008g0298 a0002c0001t0010g0063 a0002c0001t0015g0175 a0002c0001t0015g0176 a0002c0001t0015g0242 a0002c0001t0019g0008 a0002c0001t0019g0308 a0002c0001t0020g0191 a0002c0001t0020g0209 a0002c0001t0020g0311 a0002c0001t0021g0082 a0002c0001t0021g0168 a0002c0001t0021g0169 a0002c0001t0023g0065 a0002c0001t0023g0268 a0002c0001t0034g0105 a0002c0001t0035g0181 a0002c0001t0037g0081 a0002c0001t0044g0241 a0002c0001t0045g0038 a0002c0001t0046g0015 a0002c0001t0046g0033 a0002c0001t0047g0131 a0002c0001t0048g0001 a0002c0001t0049g0048 a0002c0001t0049g0049 a0002c0001t0070g0067 a0002c0001t0071g0085 a0002c0001t0072g0066 a0002c0001t0073g0117 a0002c0001t0095g0204 a0002c0001t0101g0079 a0002c0001t0103g0200 a0002c0001t0104g0220 a0002c0001t0113g0149 a0002c0001t0123g0296 a0002c0001t0125g0299 a0002c0001t0136g0305 a0002c0001t0137g0310 a0002c0001t0141g0178 a0002c0001t0145g0161 a0002c0001t0149g0260 a0002c0001t0150g0159 a0002c0001t0152g0226 a0002c0001t0159g0195 a0002c0001t0160g0054 a0002c0001t0161g0286 a0002c0001t0171g0064 a0002c0001t0173g0022 a0002c0001t0177g0215 a0002c0001t0178g0227 a0002c0001t0180g0070 a0002c0001t0181g0269 a0002c0001t0182g0318 a0002c0001t0183g0216 a0002c0001t0184g0276 a0002c0001t0195g0140 a0002c0001t0196g0132 a0002c0001t0198g0259 a0002c0001t0201g0243 a0002c0001t0203g0179 a0002c0001t0206g0138 a0002c0001t0210g0012 a0002c0001t0214g0213 a0002c0001t0216g0303 a0002c0001t0217g0325 a0002c0001t0219g0148 a0002c0001t0222g0346 a0002c0001t0224g0158 a0002c0001t0231g0013 a0002c0001t0232g0321 a0002c0001t0234g0333 a0002c0001t0235g0336 a0002c0001t0237g0073 a0002c0001t0240g0058 a0002c0001t0241g0188 a0002c0001t0244g0069 a0002c0001t0249g0361 a0002c0007t0001g0087 a0002c0007t0026g0144 a0002c0007t0026g0177 a0002c0007t0045g0238 a0002c0007t0085g0030 a0002c0007t0117g0026 a0002c0007t0132g0041 a0002c0007t0176g0353 a0002c0007t0223g0040 a0002c0007t0230g0270 a0002c0012t0169g0184 a0002c0012t0179g0327 a0002c0021t0233g0186 a0005c0014t0034g0025 a0005c0014t0115g0185 a0005c0019t0170g0244 a0007c0011t0040g0097 a0007c0011t0040g0228 a0008c0015t0229g0250 a0010c0020t0213g0154	120	366	0.3279	0	c.181 others(4): Show c.1816G>A	p.Gly others(6): Show p.Gly606Ser	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	6/10	2003/5724	1816/2229	606/742		chr18	TogoVar
COLEC12_chr18_311737_505701	348060	A A	ATT ATT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01106.hp1 HG01884.hp1 HG02109.hp1 others(4): Show HG01106.hp1 HG01884.hp1 HG02109.hp1 HG02886.hp2 HG02895.hp1 HG03486.hp1 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0003c0002 a0003c0013 a0001c0004 a0003c0002 a0003c0013	a0001c0004t0097 a0001c0004t0239 a0001c0004t0245 others(4): Show a0001c0004t0097 a0001c0004t0239 a0001c0004t0245 a0003c0002t0193 a0003c0002t0204 a0003c0013t0164 a0003c0013t0190	a0001c0004t0097g0080 a0001c0004t0239g0326 a0001c0004t0245g0167 others(4): Show a0001c0004t0097g0080 a0001c0004t0239g0326 a0001c0004t0245g0167 a0003c0002t0193g0115 a0003c0002t0204g0007 a0003c0013t0164g0247 a0003c0013t0190g0330	7	366	0.0191	2	c.280 others(13): Show c.280+3_280+4dupAA		COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	4/9					chr18	TogoVar
COLGALT2_chr1_183930834_184042728	183940583	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00544.hp2 HG00609.hp1 HG00738.hp1 others(59): Show HG00544.hp2 HG00609.hp1 HG00738.hp1 HG00738.hp2 HG01074.hp1 HG01123.hp1 HG01255.hp2 HG01261.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG02056.hp1 HG02071.hp1 HG02129.hp1 HG02132.hp1 HG02155.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02602.hp2 HG02965.hp2 HG02976.hp1 HG03139.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03942.hp2 NA18940.hp1 NA18952.hp2 NA18960.hp1 NA18963.hp2 NA18971.hp1 NA18974.hp1 NA18974.hp2 NA18978.hp2 NA18979.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19009.hp1 NA19011.hp2 NA19012.hp2 NA19054.hp2 NA19060.hp1 NA19065.hp1 NA19066.hp1 NA19072.hp1 NA19074.hp2 NA19079.hp2 NA19091.hp1 NA20300.hp1 NA20805.hp1	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0013	a0001c0002 a0001c0006 a0004c0022 others(2): Show a0001c0002 a0001c0006 a0004c0022 a0005c0012 a0013c0010	a0001c0002t0002 a0001c0002t0006 a0001c0002t0021 others(6): Show a0001c0002t0002 a0001c0002t0006 a0001c0002t0021 a0001c0002t0026 a0001c0002t0034 a0001c0006t0002 a0004c0022t0044 a0005c0012t0002 a0013c0010t0033	a0001c0002t0002g0001 a0001c0002t0002g0110 a0001c0002t0002g0114 others(57): Show a0001c0002t0002g0001 a0001c0002t0002g0110 a0001c0002t0002g0114 a0001c0002t0002g0118 a0001c0002t0002g0123 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0132 a0001c0002t0002g0134 a0001c0002t0002g0139 a0001c0002t0002g0146 a0001c0002t0002g0147 a0001c0002t0002g0149 a0001c0002t0002g0162 a0001c0002t0002g0187 a0001c0002t0002g0189 a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0241 a0001c0002t0002g0251 a0001c0002t0002g0258 a0001c0002t0002g0260 a0001c0002t0002g0262 a0001c0002t0002g0263 a0001c0002t0002g0265 a0001c0002t0002g0266 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0282 a0001c0002t0002g0285 a0001c0002t0002g0287 a0001c0002t0002g0308 a0001c0002t0006g0010 a0001c0002t0006g0017 a0001c0002t0006g0018 a0001c0002t0006g0019 a0001c0002t0006g0022 a0001c0002t0006g0027 a0001c0002t0006g0029 a0001c0002t0006g0038 a0001c0002t0006g0042 a0001c0002t0006g0045 a0001c0002t0006g0050 a0001c0002t0006g0081 a0001c0002t0006g0082 a0001c0002t0006g0094 a0001c0002t0006g0097 a0001c0002t0006g0098 a0001c0002t0021g0009 a0001c0002t0026g0060 a0001c0002t0034g0264 a0001c0006t0002g0131 a0001c0006t0002g0140 a0001c0006t0002g0185 a0004c0022t0044g0335 a0005c0012t0002g0107 a0013c0010t0033g0101	62	340	0.1824	0	c.160 others(4): Show c.1602C>T	p.Pro others(6): Show p.Pro534Pro	COLGALT2	ENSG00000198756.12	transcript	ENST00000361927.9	protein_coding	11/12	1973/5179	1602/1881	534/626		chr1	TogoVar
COLQ_chr3_15445133_15526706	15479331	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01168.hp2 HG01169.hp1 HG02622.hp2 others(9): Show HG01168.hp2 HG01169.hp1 HG02622.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03209.hp2 HG03471.hp1 HG03516.hp1 NA18522.hp2 NA19240.hp1 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0005 a0002c0002 a0003c0004 a0001c0005 a0002c0002 a0003c0004	a0001c0005t0005 a0002c0002t0005 a0002c0002t0008 others(1): Show a0001c0005t0005 a0002c0002t0005 a0002c0002t0008 a0003c0004t0002	a0001c0005t0005g0264 a0001c0005t0005g0265 a0002c0002t0005g0266 others(8): Show a0001c0005t0005g0264 a0001c0005t0005g0265 a0002c0002t0005g0266 a0002c0002t0008g0269 a0002c0002t0008g0270 a0002c0002t0008g0271 a0003c0004t0002g0022 a0003c0004t0002g0247 a0003c0004t0002g0256 a0003c0004t0002g0257 a0003c0004t0002g0258	12	382	0.0314	0	c.366 others(5): Show c.366+7A>G		COLQ	ENSG00000206561.14	transcript	ENST00000383788.10	protein_coding	4/16					chr3	TogoVar
COMMD2_chr3_149733472_149757489	149752210	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02258.hp2 HG02258.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0136 a0003c0006t0001g0136	1	424	0.0024	0	c.145 others(3): Show c.145A>G	p.Arg others(5): Show p.Arg49Gly	COMMD2	ENSG00000114744.9	transcript	ENST00000473414.6	protein_coding	2/5	190/3694	145/600	49/199		chr3	TogoVar
COMMD4_chr15_75331063_75345273	75339257	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18949.hp2 NA18962.hp1 NA19090.hp2 NA18949.hp2 NA18962.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0043 a0001c0001t0001g0021 a0001c0001t0001g0043	3	430	0.0070	0	c.302 others(5): Show c.302-7C>T		COMMD4	ENSG00000140365.16	transcript	ENST00000267935.13	protein_coding	5/7					chr15	TogoVar
COMMD6_chr13_75520214_75542841	75525213	C C	CAAACTT CAAACTT	splice_region_variant splice_region_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(303): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.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 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp2 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0003c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(106): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0003g0004 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0021 a0001c0001t0003g0027 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0044 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0060 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0080 a0001c0001t0003g0100 a0001c0001t0003g0104 a0001c0001t0003g0139 a0001c0001t0006g0014 a0001c0001t0006g0046 a0001c0001t0007g0099 a0001c0001t0007g0103 a0001c0001t0007g0110 a0001c0001t0009g0096 a0001c0001t0010g0137 a0001c0001t0011g0120 a0003c0002t0001g0089	306	396	0.7727	6	c.13 others(17): Show c.1375_*1376insAAGTTT		COMMD6	ENSG00000188243.14	transcript	ENST00000682242.1	protein_coding	4/4					chr13	TogoVar
COMMD7_chr20_32697699_32748467	32704020	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp2 HG02280.hp1 HG02630.hp1 others(8): Show HG01109.hp2 HG02280.hp1 HG02630.hp1 HG02886.hp1 HG02970.hp1 HG03041.hp2 HG03195.hp1 HG03516.hp2 NA18522.hp2 NA19030.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0109 a0001c0001t0003g0007 a0001c0001t0003g0295 others(7): Show a0001c0001t0001g0109 a0001c0001t0003g0007 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0369 a0001c0001t0004g0291 a0001c0001t0004g0292 a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0006g0120	11	400	0.0275	0	c.526 others(5): Show c.526+3G>A		COMMD7	ENSG00000149600.12	transcript	ENST00000278980.11	protein_coding	8/8					chr20	TogoVar
COMMD7_chr20_32697699_32748467	32704496	CA CA	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(187): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp2 NA18906.hp2 NA18940.hp2 NA18943.hp1 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18959.hp1 NA18964.hp2 NA18965.hp1 NA18970.hp2 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18985.hp2 NA18987.hp1 NA18989.hp2 NA18991.hp2 NA18992.hp2 NA18998.hp2 NA18999.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19009.hp2 NA19011.hp2 NA19043.hp1 NA19056.hp2 NA19057.hp1 NA19066.hp1 NA19070.hp1 NA19072.hp2 NA19074.hp2 NA19077.hp1 NA19081.hp1 NA19082.hp1 NA19088.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(171): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0221 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0286 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0360 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0368 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0002g0118 a0001c0001t0002g0269 a0001c0001t0002g0324 a0001c0001t0002g0361 a0001c0001t0005g0359 a0002c0002t0001g0077	190	400	0.4750	-1	c.428 others(6): Show c.428-8delT		COMMD7	ENSG00000149600.12	transcript	ENST00000278980.11	protein_coding	6/8					chr20	TogoVar
COMMD7_chr20_32697699_32748467	32704496	CAA CAA	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02040.hp2 HG02056.hp2 HG02280.hp1 others(29): Show HG02040.hp2 HG02056.hp2 HG02280.hp1 HG03195.hp1 NA18942.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18949.hp1 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18965.hp2 NA18967.hp1 NA18970.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18986.hp1 NA18988.hp1 NA19005.hp1 NA19054.hp2 NA19056.hp1 NA19058.hp2 NA19062.hp1 NA19064.hp1 NA19079.hp1 NA19079.hp2 NA19085.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0003 a0001c0001t0001g0041 a0001c0001t0001g0042 others(26): Show a0001c0001t0001g0003 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0068 a0001c0001t0001g0124 a0001c0001t0001g0263 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0003g0007	32	400	0.0800	-2	c.428 others(13): Show c.428-9_428-8delTT		COMMD7	ENSG00000149600.12	transcript	ENST00000278980.11	protein_coding	6/8					chr20	TogoVar
COMMD7_chr20_32697699_32748467	32704496	CAAA CAAA	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp2 HG02630.hp1 HG02886.hp1 others(6): Show HG01109.hp2 HG02630.hp1 HG02886.hp1 HG02970.hp1 HG03041.hp2 HG03516.hp2 NA18522.hp2 NA19030.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0109 a0001c0001t0003g0295 a0001c0001t0003g0296 others(6): Show a0001c0001t0001g0109 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0369 a0001c0001t0004g0291 a0001c0001t0004g0292 a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0006g0120	9	400	0.0225	-3	c.428 others(15): Show c.428-10_428-8delTTT		COMMD7	ENSG00000149600.12	transcript	ENST00000278980.11	protein_coding	6/8					chr20	TogoVar
COMMD9_chr11_36267292_36294424	36278623	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0148 a0001c0001t0005g0148	1	448	0.0022	0	c.178 others(5): Show c.178-7C>G		COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	2/5					chr11	TogoVar
COMMD9_chr11_36267292_36294424	36289362	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01109.hp1 HG02615.hp2 HG01109.hp1 HG02615.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0066 a0003c0003t0005g0067 a0003c0003t0005g0066 a0003c0003t0005g0067	2	448	0.0045	0	c.51G others(2): Show c.51G>A	p.Lys others(5): Show p.Lys17Lys	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/6	63/2949	51/597	17/198		chr11	TogoVar
COMP_chr19_18777773_18796305	18783046	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp1 HG02257.hp1 HG02486.hp1 others(2): Show HG01891.hp1 HG02257.hp1 HG02486.hp1 HG03139.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0121 a0001c0001t0001g0126 others(2): Show a0001c0001t0001g0059 a0001c0001t0001g0121 a0001c0001t0001g0126 a0001c0001t0001g0133 a0001c0001t0001g0160	5	398	0.0126	0	c.222 others(6): Show c.2227+8G>A		COMP	ENSG00000105664.11	transcript	ENST00000222271.7	protein_coding	18/18					chr19	TogoVar
COMP_chr19_18777773_18796305	18786296	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	398	0.0025	0	c.125 others(6): Show c.1255-5C>T		COMP	ENSG00000105664.11	transcript	ENST00000222271.7	protein_coding	11/18					chr19	TogoVar
COMTD1_chr10_75228641_75240957	75235264	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	410	0.0024	0	c.328 others(5): Show c.328+3A>G		COMTD1	ENSG00000165644.11	transcript	ENST00000372538.8	protein_coding	3/6					chr10	TogoVar
COMT_chr22_19936772_19974975	19941904	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0025 a0001c0002t0001g0025	1	426	0.0024	0	c.-92 others(5): Show c.-92+7G>A		COMT	ENSG00000093010.15	transcript	ENST00000361682.11	protein_coding	1/5					chr22	TogoVar
COP1_chr1_175939831_176212286	175944831	T T	C C	splice_region_variant splice_region_variant	LOW	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0012 a0001c0006t0012	a0001c0006t0012g0268 a0001c0006t0012g0268	1	300	0.0033	0	c.32 others(4): Show c.322A>G		COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	20/20					chr1	TogoVar
COP1_chr1_175939831_176212286	176081294	GA GA	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01167.hp2 HG01169.hp1 HG01993.hp1 others(4): Show HG01167.hp2 HG01169.hp1 HG01993.hp1 HG02055.hp1 HG03130.hp1 HG03486.hp1 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0136 a0001c0001t0004g0274 a0001c0001t0004g0277 others(4): Show a0001c0001t0001g0136 a0001c0001t0004g0274 a0001c0001t0004g0277 a0001c0001t0004g0278 a0001c0001t0004g0279 a0001c0001t0004g0280 a0001c0001t0004g0281	7	300	0.0233	-1	c.114 others(7): Show c.1142-8delT		COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	10/19					chr1	TogoVar
COP1_chr1_175939831_176212286	176081295	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0269 a0001c0001t0013g0269	1	300	0.0033	0	c.114 others(6): Show c.1142-8T>C		COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	10/19					chr1	TogoVar
COPA_chr1_160283594_160348250	160293168	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18953.hp1 NA18953.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0002 a0008c0010t0002	a0008c0010t0002g0168 a0008c0010t0002g0168	1	366	0.0027	0	c.282 others(4): Show c.2821C>T	p.Arg others(6): Show p.Arg941Trp	COPA	ENSG00000122218.17	transcript	ENST00000241704.8	protein_coding	27/33	2901/5318	2821/3675	941/1224		chr1	TogoVar
COPA_chr1_160283594_160348250	160293382	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02109.hp1 HG02280.hp2 HG02451.hp2 others(3): Show HG02109.hp1 HG02280.hp2 HG02451.hp2 HG02622.hp1 HG02717.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0052 a0001c0001t0003g0053 others(1): Show a0001c0001t0003g0006 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054	6	366	0.0164	0	c.275 others(6): Show c.2754+4A>G		COPA	ENSG00000122218.17	transcript	ENST00000241704.8	protein_coding	26/32					chr1	TogoVar
COPA_chr1_160283594_160348250	160297336	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0006 a0002c0006t0006	a0002c0006t0006g0182 a0002c0006t0006g0182	1	366	0.0027	0	c.226 others(6): Show c.2263+7A>G		COPA	ENSG00000122218.17	transcript	ENST00000241704.8	protein_coding	21/32					chr1	TogoVar
COPB1_chr11_14452512_14504811	14475781	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	386	0.0026	0	c.161 others(6): Show c.1616+4A>T		COPB1	ENSG00000129083.13	transcript	ENST00000439561.7	protein_coding	13/21					chr11	TogoVar
COPE_chr19_18894514_18924387	18913044	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(115): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01891.hp1 HG01928.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02074.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02165.hp2 HG02258.hp1 HG02293.hp2 HG02451.hp2 HG02559.hp2 HG02630.hp1 HG02683.hp2 HG02698.hp2 HG02723.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18906.hp1 NA18939.hp1 NA18944.hp2 NA18945.hp2 NA18950.hp2 NA18954.hp2 NA18962.hp1 NA18964.hp1 NA18969.hp1 NA18971.hp2 NA18973.hp2 NA18977.hp2 NA18980.hp2 NA18986.hp1 NA18989.hp2 NA18993.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp2 NA19060.hp1 NA19065.hp1 NA19067.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19085.hp1 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0002 a0003c0004 a0003c0008 others(5): Show a0001c0002 a0003c0004 a0003c0008 a0003c0016 a0003c0017 a0003c0018 a0003c0019 a0007c0014	a0001c0002t0001 a0003c0004t0001 a0003c0008t0001 others(5): Show a0001c0002t0001 a0003c0004t0001 a0003c0008t0001 a0003c0016t0001 a0003c0017t0001 a0003c0018t0001 a0003c0019t0001 a0007c0014t0001	a0001c0002t0001g0016 a0001c0002t0001g0031 a0001c0002t0001g0032 others(112): Show a0001c0002t0001g0016 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0044 a0001c0002t0001g0084 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0114 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0191 a0001c0002t0001g0200 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0262 a0003c0004t0001g0018 a0003c0004t0001g0019 a0003c0004t0001g0264 a0003c0004t0001g0265 a0003c0004t0001g0274 a0003c0004t0001g0275 a0003c0004t0001g0278 a0003c0004t0001g0279 a0003c0004t0001g0281 a0003c0004t0001g0282 a0003c0004t0001g0283 a0003c0004t0001g0284 a0003c0004t0001g0285 a0003c0004t0001g0286 a0003c0004t0001g0287 a0003c0008t0001g0290 a0003c0008t0001g0291 a0003c0008t0001g0292 a0003c0016t0001g0289 a0003c0017t0001g0277 a0003c0018t0001g0276 a0003c0019t0001g0280 a0007c0014t0001g0103	118	330	0.3576	0	c.129 others(3): Show c.129A>G	p.Leu others(5): Show p.Leu43Leu	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	2/10	168/1131	129/927	43/308		chr19	TogoVar
COPG1_chr3_129244606_129282773	129254750	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	326	0.0031	0	c.399 others(5): Show c.399+7C>T		COPG1	ENSG00000181789.14	transcript	ENST00000314797.10	protein_coding	6/23					chr3	TogoVar
COPG1_chr3_129244606_129282773	129263898	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	326	0.0031	0	c.112 others(6): Show c.1129-6A>G		COPG1	ENSG00000181789.14	transcript	ENST00000314797.10	protein_coding	12/23					chr3	TogoVar
COPG2_chr7_130501238_130673748	130508666	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00438.hp2 HG00544.hp2 others(90): Show HG00140.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG01106.hp2 HG01167.hp2 HG01168.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02015.hp2 HG02080.hp2 HG02083.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp2 HG02559.hp2 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG03239.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03669.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18939.hp2 NA18941.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp2 NA18952.hp2 NA18954.hp1 NA18955.hp2 NA18957.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18967.hp1 NA18978.hp2 NA18980.hp1 NA18983.hp1 NA18992.hp2 NA18994.hp1 NA18998.hp1 NA19003.hp2 NA19004.hp1 NA19009.hp1 NA19043.hp1 NA19054.hp1 NA19058.hp2 NA19062.hp1 NA19066.hp2 NA19070.hp2 NA19078.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp2 NA19091.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0012 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0002t0002 a0001c0006t0002 a0001c0012t0002 a0007c0009t0002	a0001c0001t0001g0200 a0001c0001t0001g0213 a0001c0001t0002g0024 others(90): Show a0001c0001t0001g0200 a0001c0001t0001g0213 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0260 a0001c0001t0002g0272 a0001c0001t0006g0149 a0001c0001t0006g0168 a0001c0001t0006g0172 a0001c0001t0006g0178 a0001c0001t0006g0182 a0001c0001t0006g0198 a0001c0001t0006g0201 a0001c0001t0006g0226 a0001c0001t0012g0206 a0001c0002t0002g0088 a0001c0006t0002g0153 a0001c0006t0002g0154 a0001c0012t0002g0166 a0007c0009t0002g0217	93	326	0.2853	0	c.215 others(6): Show c.2150-7C>T		COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	20/23					chr7	TogoVar
COPG2_chr7_130501238_130673748	130612147	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02572.hp1 HG02922.hp1 HG03041.hp2 others(1): Show HG02572.hp1 HG02922.hp1 HG03041.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 others(1): Show a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265	4	326	0.0123	0	c.579 others(5): Show c.579+5T>G		COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	8/23					chr7	TogoVar
COPG2_chr7_130501238_130673748	130613538	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG06807.hp1 HG06807.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0114 a0003c0008t0001g0114	1	326	0.0031	0	c.492 others(5): Show c.492+6T>C		COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	7/23					chr7	TogoVar
COPG2_chr7_130501238_130673748	130662961	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0152	1	326	0.0031	0	c.243 others(5): Show c.243+6T>A		COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	4/23					chr7	TogoVar
COPS3_chr17_17241616_17286246	17267878	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01934.hp1 HG02145.hp1 HG02630.hp2 others(4): Show HG01934.hp1 HG02145.hp1 HG02630.hp2 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0052 others(4): Show a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056	7	352	0.0199	0	c.441 others(5): Show c.441+7A>C		COPS3	ENSG00000141030.13	transcript	ENST00000268717.10	protein_coding	5/11					chr17	TogoVar
COPS3_chr17_17241616_17286246	17276167	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00280.hp1 HG00408.hp2 others(116): Show HG00140.hp2 HG00280.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01074.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01168.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01516.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02080.hp1 HG02083.hp2 HG02129.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02273.hp2 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG03130.hp2 HG03491.hp1 HG03654.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA18942.hp1 NA18943.hp2 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18961.hp1 NA18965.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18974.hp2 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18992.hp1 NA18994.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp2 NA19004.hp2 NA19006.hp2 NA19009.hp2 NA19058.hp1 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19068.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001	a0001c0002t0001g0001 a0001c0002t0001g0006 a0001c0002t0001g0007 others(91): Show a0001c0002t0001g0001 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0210 a0001c0002t0001g0237 a0001c0003t0001g0190 a0001c0004t0001g0143	119	352	0.3381	0	c.56- others(4): Show c.56-3C>T		COPS3	ENSG00000141030.13	transcript	ENST00000268717.10	protein_coding	1/11					chr17	TogoVar
COPS4_chr4_83030183_83080818	83049144	CT CT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01516.hp1 HG02004.hp1 HG02280.hp1 others(8): Show HG01516.hp1 HG02004.hp1 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02895.hp2 HG02897.hp2 HG03041.hp1 HG03195.hp1 NA18948.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0086 a0001c0001t0001g0113 a0001c0001t0001g0114 others(8): Show a0001c0001t0001g0086 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0206 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0002g0034	11	372	0.0296	-1	c.155 others(6): Show c.155-8delT		COPS4	ENSG00000138663.9	transcript	ENST00000264389.7	protein_coding	2/9				INFO_REALIGN_3_PRIME	chr4	TogoVar
COPS4_chr4_83030183_83080818	83063073	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	372	0.0027	0	c.716 others(5): Show c.716-3T>C		COPS4	ENSG00000138663.9	transcript	ENST00000264389.7	protein_coding	6/9					chr4	TogoVar
COPS7B_chr2_231781445_231814253	231791726	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00639.hp2 HG02080.hp1 HG02572.hp1 others(9): Show HG00639.hp2 HG02080.hp1 HG02572.hp1 HG02818.hp2 HG02886.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp2 HG03540.hp1 HG04115.hp2 HG04228.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0021 a0001c0001t0033 a0001c0001t0035	a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0168 others(8): Show a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0168 a0001c0001t0003g0022 a0001c0001t0006g0022 a0001c0001t0006g0169 a0001c0001t0021g0022 a0001c0001t0021g0042 a0001c0001t0021g0170 a0001c0001t0033g0153 a0001c0001t0035g0171	12	348	0.0345	0	c.163 others(5): Show c.163-7T>C		COPS7B	ENSG00000144524.18	transcript	ENST00000350033.8	protein_coding	2/6					chr2	TogoVar
COPS8_chr2_237080889_237105474	237087123	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp1 HG02109.hp2 HG02145.hp1 others(7): Show HG01884.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02895.hp2 HG02896.hp2 HG02970.hp2 HG03041.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0090 a0001c0001t0002g0004 a0001c0001t0002g0090	10	348	0.0287	0	c.79- others(4): Show c.79-4C>T		COPS8	ENSG00000198612.11	transcript	ENST00000354371.7	protein_coding	1/7					chr2	TogoVar
COPS8_chr2_237080889_237105474	237096814	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00738.hp1 HG01081.hp2 HG01891.hp1 others(4): Show HG00738.hp1 HG01081.hp2 HG01891.hp1 HG03041.hp1 NA18906.hp2 NA19030.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0025 a0001c0001t0026 a0001c0001t0007 a0001c0001t0025 a0001c0001t0026	a0001c0001t0007g0013 a0001c0001t0007g0101 a0001c0001t0025g0099 others(1): Show a0001c0001t0007g0013 a0001c0001t0007g0101 a0001c0001t0025g0099 a0001c0001t0026g0100	7	348	0.0201	0	c.503 others(5): Show c.503-8G>A		COPS8	ENSG00000198612.11	transcript	ENST00000354371.7	protein_coding	6/7					chr2	TogoVar
COPS8_chr2_237080889_237105474	237096814	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	348	0.0029	0	c.503 others(5): Show c.503-8G>T		COPS8	ENSG00000198612.11	transcript	ENST00000354371.7	protein_coding	6/7					chr2	TogoVar
COPS8_chr2_237080889_237105474	237096872	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00642.hp2 HG01884.hp2 HG02055.hp1 others(24): Show HG00642.hp2 HG01884.hp2 HG02055.hp1 HG02109.hp1 HG02145.hp2 HG02257.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03471.hp2 HG03486.hp1 HG03579.hp1 NA18522.hp2 NA19030.hp1 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 a0001c0001t0019	a0001c0001t0002g0026 a0001c0001t0002g0036 a0001c0001t0002g0043 others(11): Show a0001c0001t0002g0026 a0001c0001t0002g0036 a0001c0001t0002g0043 a0001c0001t0002g0097 a0001c0001t0003g0008 a0001c0001t0003g0014 a0001c0001t0003g0039 a0001c0001t0004g0015 a0001c0001t0004g0027 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0013g0025 a0001c0001t0019g0044	27	348	0.0776	0	c.550 others(5): Show c.550+3A>G		COPS8	ENSG00000198612.11	transcript	ENST00000354371.7	protein_coding	7/7					chr2	TogoVar
COPZ1_chr12_54320131_54356846	54325188	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00423.hp2 HG01361.hp2 NA18991.hp2 others(4): Show HG00423.hp2 HG01361.hp2 NA18991.hp2 NA18993.hp2 NA19012.hp1 NA19062.hp2 NA19077.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0023 a0001c0002t0003g0024 a0001c0002t0003g0025 others(4): Show a0001c0002t0003g0023 a0001c0002t0003g0024 a0001c0002t0003g0025 a0001c0002t0003g0026 a0001c0002t0003g0027 a0001c0002t0003g0028 a0001c0002t0003g0029	7	368	0.0190	0	c.18+ others(4): Show c.18+7G>A		COPZ1	ENSG00000111481.10	transcript	ENST00000262061.7	protein_coding	1/8					chr12	TogoVar
COPZ1_chr12_54320131_54356846	54350470	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp2 HG02723.hp2 HG02965.hp1 others(3): Show HG01891.hp2 HG02723.hp2 HG02965.hp1 HG03579.hp1 NA19043.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0205 a0001c0001t0002g0215 others(3): Show a0001c0001t0002g0090 a0001c0001t0002g0205 a0001c0001t0002g0215 a0001c0001t0002g0228 a0001c0001t0002g0323 a0001c0001t0002g0329	6	368	0.0163	0	c.487 others(5): Show c.487-6C>T		COPZ1	ENSG00000111481.10	transcript	ENST00000262061.7	protein_coding	8/8					chr12	TogoVar
COPZ2_chr17_48021167_48042797	48032678	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02965.hp2 HG02970.hp1 HG02976.hp2 others(1): Show HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	4	396	0.0101	0	c.416 others(5): Show c.416+8A>G		COPZ2	ENSG00000005243.10	transcript	ENST00000621465.5	protein_coding	5/8					chr17	TogoVar
COPZ2_chr17_48021167_48042797	48036848	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	396	0.0025	0	c.186 others(5): Show c.186+3A>C		COPZ2	ENSG00000005243.10	transcript	ENST00000621465.5	protein_coding	2/8					chr17	TogoVar
COQ10B_chr2_197448552_197480310	197462737	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0342 a0001c0001t0001g0342	1	390	0.0026	0	c.447 others(5): Show c.447+6A>G		COQ10B	ENSG00000115520.9	transcript	ENST00000263960.7	protein_coding	3/4					chr2	TogoVar
COQ3_chr6_99364401_99399195	99369823	GA GA	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02055.hp2 HG02109.hp2 HG02809.hp1 others(5): Show HG02055.hp2 HG02109.hp2 HG02809.hp1 HG02896.hp1 HG02897.hp1 NA18960.hp2 NA18974.hp1 NA18987.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0003 a0001c0001t0001 a0003c0003t0003	a0001c0001t0001g0104 a0003c0003t0003g0158 a0003c0003t0003g0162 others(5): Show a0001c0001t0001g0104 a0003c0003t0003g0158 a0003c0003t0003g0162 a0003c0003t0003g0164 a0003c0003t0003g0266 a0003c0003t0003g0267 a0003c0003t0003g0268 a0003c0003t0003g0270	8	434	0.0184	-1	c.890 others(6): Show c.890-4delT		COQ3	ENSG00000132423.12	transcript	ENST00000254759.8	protein_coding	6/6					chr6	TogoVar
COQ5_chr12_120498279_120534158	120510130	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01168.hp2 HG01169.hp1 HG01243.hp2 others(12): Show HG01168.hp2 HG01169.hp1 HG01243.hp2 HG02257.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02886.hp2 HG03130.hp2 HG03209.hp1 HG03453.hp1 NA18906.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0115 a0001c0001t0001g0130 others(11): Show a0001c0001t0001g0021 a0001c0001t0001g0115 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0310 a0001c0001t0001g0311	15	388	0.0387	0	c.575 others(5): Show c.575-7C>G		COQ5	ENSG00000110871.15	transcript	ENST00000288532.11	protein_coding	3/6					chr12	TogoVar
COQ6_chr14_73945302_73968670	73958272	TTGTTGGT others(9): Show TTGTTGGTAGTTGAAGA	T T	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19075.hp2 NA19075.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0073 a0008c0010t0001g0073	1	456	0.0022	-16	c.609 others(26): Show c.609_612+12delGTTGGTAGTTGAAGAT	p.Leu others(5): Show p.Leu204fs	COQ6	ENSG00000119723.17	transcript	ENST00000334571.7	protein_coding	5/12	640/2109	609/1407	203/468	INFO_REALIGN_3_PRIME	chr14	TogoVar
COQ7_chr16_19062614_19085095	19074039	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02717.hp2 HG02818.hp1 HG03041.hp1 others(2): Show HG02717.hp2 HG02818.hp1 HG03041.hp1 HG03453.hp1 HG03486.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0029 a0002c0003t0002g0055 a0002c0003t0002g0067 others(1): Show a0002c0003t0002g0029 a0002c0003t0002g0055 a0002c0003t0002g0067 a0002c0003t0002g0068	5	372	0.0134	0	c.367 others(5): Show c.367+4C>T		COQ7	ENSG00000167186.11	transcript	ENST00000321998.10	protein_coding	3/5					chr16	TogoVar
COQ8A_chr1_226935294_226992544	226940407	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp1 HG02109.hp1 HG02647.hp2 others(2): Show HG01109.hp1 HG02109.hp1 HG02647.hp2 HG02896.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 others(2): Show a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0003t0003g0030	5	412	0.0121	0	c.-10 others(5): Show c.-10+8T>C		COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	1/14					chr1	TogoVar

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