Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
COL9A2_chr1_40295489_40322286	40321167	A A	ATATATAT others(6): Show ATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0010 a0002c0001t0001g0010	1	429	0.0023	13	c.-39 others(24): Show c.-3971_-3970insATATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		3882		chr1	TogoVar
COLEC10_chr8_119062247_119113455	119069629	A A	AAAAAAAT others(6): Show AAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	241	0.0041	13	c.148 others(30): Show c.148+2201_148+2202insAAAAATATATATA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC10_chr8_119062247_119113455	119091573	A A	AAGAAGAG others(6): Show AAGAAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0056 a0001c0001t0003g0056	1	347	0.0029	13	c.292 others(28): Show c.292+356_292+357insAGAGAGAGAGAGA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC11_chr2_3590112_3649644	3600010	T T	TGGATCAT others(6): Show TGGATCATGAGGTC	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	376	0.0027	13	c.-26 others(30): Show c.-26-4304_-26-4292dupGGATCATGAGGTC	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
COLEC12_chr18_311737_505701	406515	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02897.hp2 HG02622.hp2 HG02897.hp2	a0001 a0003 a0001 a0003	a0001c0005 a0003c0002 a0001c0005 a0003c0002	a0001c0005t0058 a0003c0002t0043 a0001c0005t0058 a0003c0002t0043	a0001c0005t0058g0357 a0003c0002t0043g0033 a0001c0005t0058g0357 a0003c0002t0043g0033	2	38	0.0526	13	c.59- others(30): Show c.59-49006_59-48994dupTTTTTTTTTTTTT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	2/9			chr18	TogoVar
COLEC12_chr18_311737_505701	473351	A A	ACAGCTCA others(6): Show ACAGCTCAAATCTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(162): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02129.hp2 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02683.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp2 HG03017.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp2 NA18522.hp2 NA18939.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp1 NA18952.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18994.hp2 NA18995.hp1 NA19002.hp1 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19043.hp1 NA19054.hp2 NA19057.hp2 NA19064.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19082.hp1 NA19090.hp1 NA19091.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0012	a0001c0003 a0001c0004 a0001c0005 others(17): Show a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0018 a0002c0001 a0002c0007 a0002c0012 a0002c0021 a0003c0002 a0003c0010 a0003c0027 a0004c0006 a0005c0009 a0006c0014 a0007c0011 a0009c0026 a0010c0024 a0011c0015 a0012c0016	a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 others(126): Show a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0006 a0001c0003t0007 a0001c0003t0010 a0001c0003t0014 a0001c0003t0019 a0001c0003t0020 a0001c0003t0027 a0001c0003t0029 a0001c0003t0059 a0001c0003t0070 a0001c0003t0077 a0001c0003t0091 a0001c0003t0097 a0001c0003t0101 a0001c0003t0102 a0001c0004t0005 a0001c0004t0016 a0001c0004t0038 a0001c0004t0040 a0001c0004t0048 a0001c0004t0049 a0001c0004t0061 a0001c0004t0079 a0001c0004t0108 a0001c0004t0114 a0001c0004t0124 a0001c0004t0161 a0001c0004t0186 a0001c0004t0208 a0001c0005t0009 a0001c0005t0014 a0001c0005t0056 a0001c0005t0067 a0001c0005t0072 a0001c0005t0082 a0001c0005t0093 a0001c0005t0118 a0001c0008t0018 a0001c0008t0100 a0001c0018t0112 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0004 a0002c0001t0009 a0002c0001t0012 a0002c0001t0015 a0002c0001t0023 a0002c0001t0028 a0002c0001t0039 a0002c0001t0045 a0002c0001t0052 a0002c0001t0053 a0002c0001t0055 a0002c0001t0065 a0002c0001t0090 a0002c0001t0103 a0002c0001t0111 a0002c0001t0120 a0002c0001t0123 a0002c0001t0125 a0002c0001t0129 a0002c0001t0165 a0002c0001t0168 a0002c0001t0172 a0002c0001t0192 a0002c0001t0197 a0002c0001t0199 a0002c0001t0205 a0002c0007t0024 a0002c0007t0151 a0002c0007t0181 a0002c0007t0190 a0002c0012t0115 a0002c0012t0116 a0002c0021t0195 a0003c0002t0001 a0003c0002t0002 a0003c0002t0003 a0003c0002t0008 a0003c0002t0011 a0003c0002t0015 a0003c0002t0021 a0003c0002t0025 a0003c0002t0031 a0003c0002t0035 a0003c0002t0042 a0003c0002t0057 a0003c0002t0062 a0003c0002t0063 a0003c0002t0068 a0003c0002t0080 a0003c0002t0081 a0003c0002t0086 a0003c0002t0094 a0003c0002t0104 a0003c0002t0106 a0003c0002t0107 a0003c0002t0128 a0003c0002t0136 a0003c0002t0137 a0003c0002t0139 a0003c0002t0143 a0003c0002t0145 a0003c0002t0149 a0003c0002t0152 a0003c0002t0158 a0003c0002t0162 a0003c0002t0174 a0003c0002t0185 a0003c0002t0202 a0003c0002t0204 a0003c0002t0209 a0003c0002t0212 a0003c0010t0095 a0003c0027t0109 a0004c0006t0022 a0004c0006t0045 a0004c0006t0156 a0005c0009t0032 a0006c0014t0105 a0007c0011t0036 a0009c0026t0007 a0010c0024t0144 a0011c0015t0189 a0012c0016t0075	a0001c0003t0003g0042 a0001c0003t0003g0074 a0001c0003t0003g0098 others(160): Show a0001c0003t0003g0042 a0001c0003t0003g0074 a0001c0003t0003g0098 a0001c0003t0003g0189 a0001c0003t0003g0190 a0001c0003t0003g0262 a0001c0003t0004g0188 a0001c0003t0005g0045 a0001c0003t0005g0047 a0001c0003t0005g0328 a0001c0003t0006g0343 a0001c0003t0007g0234 a0001c0003t0007g0236 a0001c0003t0010g0003 a0001c0003t0010g0178 a0001c0003t0010g0233 a0001c0003t0014g0048 a0001c0003t0014g0327 a0001c0003t0019g0321 a0001c0003t0020g0043 a0001c0003t0027g0261 a0001c0003t0029g0207 a0001c0003t0059g0005 a0001c0003t0070g0299 a0001c0003t0077g0096 a0001c0003t0091g0216 a0001c0003t0097g0339 a0001c0003t0101g0114 a0001c0003t0102g0156 a0001c0004t0005g0138 a0001c0004t0016g0267 a0001c0004t0016g0314 a0001c0004t0038g0323 a0001c0004t0040g0320 a0001c0004t0048g0121 a0001c0004t0049g0120 a0001c0004t0061g0006 a0001c0004t0079g0011 a0001c0004t0108g0136 a0001c0004t0114g0255 a0001c0004t0124g0247 a0001c0004t0161g0117 a0001c0004t0186g0284 a0001c0004t0208g0235 a0001c0005t0009g0025 a0001c0005t0014g0142 a0001c0005t0056g0356 a0001c0005t0067g0197 a0001c0005t0072g0202 a0001c0005t0082g0032 a0001c0005t0093g0135 a0001c0005t0118g0245 a0001c0008t0018g0297 a0001c0008t0100g0316 a0001c0018t0112g0072 a0002c0001t0001g0041 a0002c0001t0001g0046 a0002c0001t0001g0105 a0002c0001t0001g0123 a0002c0001t0001g0155 a0002c0001t0001g0173 a0002c0001t0001g0263 a0002c0001t0002g0062 a0002c0001t0003g0204 a0002c0001t0003g0229 a0002c0001t0004g0251 a0002c0001t0004g0253 a0002c0001t0009g0149 a0002c0001t0009g0205 a0002c0001t0009g0310 a0002c0001t0012g0200 a0002c0001t0015g0171 a0002c0001t0023g0002 a0002c0001t0023g0083 a0002c0001t0028g0264 a0002c0001t0039g0265 a0002c0001t0039g0282 a0002c0001t0045g0151 a0002c0001t0052g0018 a0002c0001t0053g0335 a0002c0001t0055g0049 a0002c0001t0055g0050 a0002c0001t0065g0116 a0002c0001t0090g0113 a0002c0001t0103g0217 a0002c0001t0111g0177 a0002c0001t0120g0063 a0002c0001t0123g0028 a0002c0001t0125g0164 a0002c0001t0129g0317 a0002c0001t0165g0134 a0002c0001t0168g0167 a0002c0001t0172g0242 a0002c0001t0192g0014 a0002c0001t0197g0209 a0002c0001t0199g0073 a0002c0001t0205g0258 a0002c0007t0024g0152 a0002c0007t0151g0029 a0002c0007t0181g0039 a0002c0007t0190g0266 a0002c0012t0115g0326 a0002c0012t0116g0174 a0002c0021t0195g0176 a0003c0002t0001g0061 a0003c0002t0001g0124 a0003c0002t0002g0086 a0003c0002t0002g0172 a0003c0002t0002g0201 a0003c0002t0002g0203 a0003c0002t0002g0230 a0003c0002t0002g0298 a0003c0002t0003g0231 a0003c0002t0008g0281 a0003c0002t0011g0301 a0003c0002t0015g0183 a0003c0002t0015g0228 a0003c0002t0021g0077 a0003c0002t0021g0225 a0003c0002t0025g0206 a0003c0002t0031g0232 a0003c0002t0035g0012 a0003c0002t0042g0115 a0003c0002t0057g0359 a0003c0002t0062g0004 a0003c0002t0063g0170 a0003c0002t0068g0031 a0003c0002t0080g0199 a0003c0002t0081g0145 a0003c0002t0086g0060 a0003c0002t0094g0024 a0003c0002t0104g0256 a0003c0002t0106g0285 a0003c0002t0107g0110 a0003c0002t0128g0346 a0003c0002t0136g0122 a0003c0002t0137g0040 a0003c0002t0139g0279 a0003c0002t0143g0244 a0003c0002t0145g0104 a0003c0002t0149g0067 a0003c0002t0152g0071 a0003c0002t0158g0227 a0003c0002t0162g0119 a0003c0002t0174g0187 a0003c0002t0185g0144 a0003c0002t0202g0185 a0003c0002t0204g0132 a0003c0002t0209g0358 a0003c0002t0212g0363 a0003c0010t0095g0088 a0003c0027t0109g0126 a0004c0006t0022g0095 a0004c0006t0045g0026 a0004c0006t0156g0312 a0005c0009t0032g0133 a0006c0014t0105g0175 a0007c0011t0036g0097 a0007c0011t0036g0226 a0009c0026t0007g0218 a0010c0024t0144g0143 a0011c0015t0189g0249 a0012c0016t0075g0054	165	364	0.4533	13	c.58+ others(28): Show c.58+7343_58+7355dupGAGATTTGAGCTG	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	2/9			chr18	TogoVar
COLEC12_chr18_311737_505701	498377	T T	TTTTTTTT others(6): Show TTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01106.hp1 HG01168.hp2 others(14): Show HG00140.hp2 HG01106.hp1 HG01168.hp2 HG02055.hp2 HG02486.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02738.hp2 HG02886.hp2 HG02922.hp1 HG03209.hp2 HG03927.hp1 HG04115.hp2 NA18968.hp2 NA19091.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0013	a0001c0003 a0001c0004 a0001c0005 others(4): Show a0001c0003 a0001c0004 a0001c0005 a0002c0001 a0003c0002 a0003c0013 a0013c0025	a0001c0003t0003 a0001c0003t0058 a0001c0003t0117 others(13): Show a0001c0003t0003 a0001c0003t0058 a0001c0003t0117 a0001c0004t0030 a0001c0004t0114 a0001c0005t0056 a0001c0005t0058 a0002c0001t0004 a0002c0001t0034 a0002c0001t0205 a0003c0002t0021 a0003c0002t0104 a0003c0002t0163 a0003c0002t0179 a0003c0013t0049 a0013c0025t0187	a0001c0003t0003g0252 a0001c0003t0058g0355 a0001c0003t0117g0254 others(14): Show a0001c0003t0003g0252 a0001c0003t0058g0355 a0001c0003t0117g0254 a0001c0004t0030g0081 a0001c0004t0114g0255 a0001c0005t0056g0356 a0001c0005t0058g0357 a0002c0001t0004g0251 a0002c0001t0004g0253 a0002c0001t0034g0259 a0002c0001t0205g0258 a0003c0002t0021g0250 a0003c0002t0104g0256 a0003c0002t0163g0330 a0003c0002t0179g0331 a0003c0013t0049g0329 a0013c0025t0187g0257	17	290	0.0586	13	c.7+2 others(26): Show c.7+2130_7+2131insCAAAAAAAAAAAA	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	1/9			chr18	TogoVar
COLEC12_chr18_311737_505701	502331	T T	TTTTTTTT others(6): Show TTTTTTTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01123.hp1 HG02300.hp1 others(1): Show HG01099.hp2 HG01123.hp1 HG02300.hp1 HG03209.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0001 a0002c0007 others(1): Show a0001c0003 a0002c0001 a0002c0007 a0003c0010	a0001c0003t0091 a0002c0001t0192 a0002c0007t0181 others(1): Show a0001c0003t0091 a0002c0001t0192 a0002c0007t0181 a0003c0010t0213	a0001c0003t0091g0216 a0002c0001t0192g0014 a0002c0007t0181g0039 others(1): Show a0001c0003t0091g0216 a0002c0001t0192g0014 a0002c0007t0181g0039 a0003c0010t0213g0361	4	364	0.0110	13	c.-18 others(24): Show c.-1818_-1817insGAAAGAAAAAAAA	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding		1631		chr18	TogoVar
COLEC12_chr18_311737_505701	502332	T T	TTTTTTTT others(6): Show TTTTTTTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG03831.hp2 NA19082.hp2 others(1): Show HG02145.hp1 HG03831.hp2 NA19082.hp2 NA20300.hp1	a0002 a0003 a0002 a0003	a0002c0001 a0003c0002 a0002c0001 a0003c0002	a0002c0001t0053 a0003c0002t0002 a0003c0002t0008 others(1): Show a0002c0001t0053 a0003c0002t0002 a0003c0002t0008 a0003c0002t0136	a0002c0001t0053g0332 a0003c0002t0002g0090 a0003c0002t0008g0035 others(1): Show a0002c0001t0053g0332 a0003c0002t0002g0090 a0003c0002t0008g0035 a0003c0002t0136g0122	4	282	0.0142	13	c.-18 others(24): Show c.-1819_-1818insGAAAGAAAAAAAA	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding		1632		chr18	TogoVar
COMMD10_chr5_116080025_116298287	116158149	T T	TTCCCCTC others(6): Show TTCCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0286 a0001c0001t0002g0286	1	348	0.0029	13	c.510 others(32): Show c.510+23975_510+23987dupCCTCCCTCCCTCC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158170	C C	CCTCCCTC others(6): Show CCTCCCTCCTCTCT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01123.hp2 HG01256.hp1 others(16): Show HG00544.hp2 HG01123.hp2 HG01256.hp1 HG01258.hp1 HG02132.hp1 HG02257.hp1 HG02602.hp1 HG02622.hp1 HG03492.hp2 HG03516.hp1 NA18949.hp1 NA18966.hp1 NA19001.hp2 NA19055.hp1 NA19056.hp1 NA19063.hp2 NA19068.hp2 NA19070.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0001t0001 a0001c0002t0001 a0001c0004t0001	a0001c0001t0001g0090 a0001c0001t0001g0188 a0001c0001t0001g0247 others(16): Show a0001c0001t0001g0090 a0001c0001t0001g0188 a0001c0001t0001g0247 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0002t0001g0180 a0001c0002t0001g0184 a0001c0004t0001g0192 a0001c0004t0001g0258 a0001c0004t0001g0259 a0001c0004t0001g0260	19	274	0.0693	13	c.510 others(32): Show c.510+23996_510+23997insCTCCTCTCTCTCC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCCTCT others(6): Show CTCCCTCTCTCCCT	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA19087.hp1 NA19091.hp1 HG00438.hp2 NA19087.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0082 a0001c0001t0001g0265 a0001c0001t0001g0266	3	23	0.1304	13	c.510 others(32): Show c.510+24113_510+24114insTCCCTCTCTCCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
COMMD10_chr5_116080025_116298287	116295608	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG02273.hp1 NA18946.hp2 others(4): Show HG01975.hp1 HG02273.hp1 NA18946.hp2 NA18963.hp2 NA18994.hp2 NA19065.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0220 others(4): Show a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0228 a0001c0001t0001g0234 a0001c0001t0001g0253	7	110	0.0636	13	c.31 others(24): Show c.3119_*3120insAAAAAAAAAAAAT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding		2322		chr5	TogoVar
COMMD10_chr5_116080025_116298287	116295608	A A	AAAAAAAA others(6): Show AAAAAAAAAATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00597.hp2 HG00621.hp1 others(21): Show HG00438.hp2 HG00597.hp2 HG00621.hp1 HG01891.hp1 HG01943.hp1 HG02129.hp1 HG02135.hp2 HG02523.hp2 HG02683.hp2 HG02735.hp1 HG03041.hp1 HG03654.hp2 HG03669.hp1 HG04115.hp2 HG04204.hp2 NA18964.hp2 NA18966.hp2 NA18988.hp1 NA18998.hp1 NA19005.hp2 NA19055.hp2 NA19079.hp2 NA19087.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0197 a0001c0001t0001g0202 a0001c0001t0001g0203 others(21): Show a0001c0001t0001g0197 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0001g0225 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0340 a0001c0005t0001g0140	24	127	0.1890	13	c.31 others(24): Show c.3119_*3120insAAAAAAAAATAAT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding		2322		chr5	TogoVar
COMMD10_chr5_116080025_116298287	116295608	A A	AAAAAAAT others(6): Show AAAAAAATAATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG01167.hp2 others(9): Show HG00099.hp1 HG00408.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01517.hp1 HG03239.hp1 HG03710.hp1 NA18986.hp1 NA18992.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0195 a0001c0001t0001g0198 others(9): Show a0001c0001t0001g0087 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0218 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0245 a0001c0001t0001g0252 a0001c0001t0001g0254	12	115	0.1043	13	c.31 others(24): Show c.3119_*3120insAAAAAATAATAAT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding		2322		chr5	TogoVar
COMMD10_chr5_116080025_116298287	116295608	A A	AAAATAAT others(6): Show AAAATAATAATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 NA19068.hp1 HG03453.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0246 a0001c0002t0001g0178 a0001c0001t0001g0246 a0001c0002t0001g0178	2	105	0.0190	13	c.31 others(24): Show c.3119_*3120insAAATAATAATAAT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding		2322		chr5	TogoVar
COMMD1_chr2_61900674_62141058	62121371	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02976.hp1 others(2): Show HG02896.hp2 HG02897.hp2 HG02976.hp1 NA18522.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0259 others(2): Show a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0262	5	46	0.1087	13	c.463 others(32): Show c.463-14446_463-14434dupAAAAAAAAAAAAA	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD7_chr20_32697699_32748467	32737379	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0350 a0001c0001t0002g0350	1	173	0.0058	13	c.84+ others(28): Show c.84+5928_84+5929insCTTTTTTTTTTTT	COMMD7	ENSG00000149600.12	transcript	ENST00000278980.11	protein_coding	1/8			chr20	TogoVar
COMMD8_chr4_47445787_47468702	47447407	A A	ACACACAC others(6): Show ACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 NA18955.hp1 NA18991.hp2 HG02698.hp2 NA18955.hp1 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010	3	388	0.0077	13	c.42 others(24): Show c.4237_*4238insGTGTGTGTGTGTG	COMMD8	ENSG00000169019.11	transcript	ENST00000381571.6	protein_coding		3379		chr4	TogoVar
COMTD1_chr10_75228641_75240957	75232740	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00558.hp1 others(52): Show HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp1 HG00735.hp1 HG00741.hp2 HG01433.hp1 HG01952.hp1 HG01952.hp2 HG02027.hp1 HG02027.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02165.hp2 HG02273.hp1 HG02300.hp1 HG03239.hp1 HG03239.hp2 HG03491.hp2 HG03492.hp1 HG03654.hp2 NA18612.hp1 NA18944.hp1 NA18955.hp2 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18966.hp1 NA18967.hp1 NA18971.hp1 NA18972.hp2 NA18975.hp2 NA18985.hp1 NA18989.hp1 NA18994.hp2 NA19000.hp1 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19058.hp1 NA19062.hp2 NA19063.hp1 NA19068.hp2 NA19079.hp1 NA19085.hp1 NA20805.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0003 a0007c0007 a0001c0001 a0001c0003 a0007c0007	a0001c0001t0001 a0001c0003t0001 a0007c0007t0001 a0001c0001t0001 a0001c0003t0001 a0007c0007t0001	a0001c0001t0001g0001 a0001c0003t0001g0006 a0007c0007t0001g0014 a0001c0001t0001g0001 a0001c0003t0001g0006 a0007c0007t0001g0014	55	133	0.4135	13	c.13 others(24): Show c.1332_*1333insAAAAAAAAAAAAA	COMTD1	ENSG00000165644.11	transcript	ENST00000372538.8	protein_coding		900		chr10	TogoVar
COP1_chr1_175939831_176212286	175949168	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03486.hp2 HG01243.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0257 a0001c0001t0001g0161 a0001c0001t0001g0257	2	22	0.0909	13	c.213 others(32): Show c.2134-1942_2134-1930dupTTTTTTTTTTTTT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar
COP1_chr1_175939831_176212286	175955766	C C	CACACACA others(6): Show CACACACACACACA	intron_variant intron_variant	MODIFIER	HG03927.hp2 NA18956.hp2 HG03927.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0074 a0001c0002t0002g0007 a0001c0001t0001g0074 a0001c0002t0002g0007	2	10	0.2000	13	c.213 others(32): Show c.2134-8528_2134-8527insTGTGTGTGTGTGT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar
COP1_chr1_175939831_176212286	175955800	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	298	0.0034	13	c.213 others(32): Show c.2134-8562_2134-8561insGTGTGTGTGTGTG	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar
COP1_chr1_175939831_176212286	176174007	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	216	0.0046	13	c.565 others(30): Show c.565+1902_565+1903insCTTTTTTTTTTTT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	3/19			chr1	TogoVar
COP1_chr1_175939831_176212286	176196881	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0012 a0001c0006t0012	a0001c0006t0012g0268 a0001c0006t0012g0268	1	293	0.0034	13	c.407 others(30): Show c.407+9690_407+9691insTTTTTTTTTTTTT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	1/19			chr1	TogoVar
COPB1_chr11_14452512_14504811	14454637	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02486.hp2 HG02572.hp2 others(4): Show HG02280.hp1 HG02486.hp2 HG02572.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0268 a0001c0001t0001g0341 others(2): Show a0001c0001t0001g0006 a0001c0001t0001g0268 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343	7	102	0.0686	13	c.31 others(24): Show c.3174_*3186dupTTTTTTTTTTTTT	COPB1	ENSG00000129083.13	transcript	ENST00000439561.7	protein_coding		2874		chr11	TogoVar
COPB1_chr11_14452512_14504811	14477389	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01891.hp2 HG02257.hp2 others(8): Show HG01192.hp1 HG01891.hp2 HG02257.hp2 HG02818.hp2 HG03486.hp1 HG03579.hp1 NA18985.hp2 NA18991.hp1 NA19070.hp2 NA19090.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0149 a0001c0001t0001g0162 a0001c0001t0001g0163 others(8): Show a0001c0001t0001g0149 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0319 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0336 a0003c0003t0001g0322	11	20	0.5500	13	c.135 others(30): Show c.1359-387_1359-375dupTTTTTTTTTTTTT	COPB1	ENSG00000129083.13	transcript	ENST00000439561.7	protein_coding	11/21			chr11	TogoVar
COPE_chr19_18894514_18924387	18902716	A A	AAAGGAAG others(6): Show AAAGGAAGGAAAGG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00741.hp2 HG01109.hp1 others(34): Show HG00642.hp1 HG00741.hp2 HG01109.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG03491.hp1 HG03492.hp1 HG04228.hp2 NA18939.hp1 NA18954.hp2 NA18962.hp1 NA18971.hp2 NA18973.hp2 NA18977.hp2 NA18980.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19005.hp1 NA19009.hp2 NA19012.hp1 NA19030.hp2 NA19060.hp1 NA19065.hp1 NA19067.hp2 NA19079.hp1 NA19080.hp2 NA19088.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0082 others(34): Show a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0082 a0001c0002t0001g0109 a0001c0002t0001g0111 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0190 a0001c0002t0001g0209 a0001c0002t0001g0216 a0001c0002t0001g0222 a0001c0002t0001g0226 a0001c0002t0001g0228 a0001c0002t0001g0231 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0237 a0001c0002t0001g0241 a0001c0002t0001g0244 a0001c0002t0001g0260	37	243	0.1523	13	c.735 others(28): Show c.735+551_735+552insCCTTTCCTTCCTT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
COPG2_chr7_130501238_130673748	130557817	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	103	0.0097	13	c.112 others(32): Show c.1129-2698_1129-2686dupTTTTTTTTTTTTT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	12/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130659354	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01099.hp2 HG01167.hp1 others(29): Show HG01069.hp1 HG01099.hp2 HG01167.hp1 HG01515.hp2 HG01516.hp2 HG01891.hp1 HG01943.hp2 HG02129.hp2 HG02280.hp2 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02723.hp2 HG02886.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03471.hp1 HG03540.hp2 HG03654.hp1 HG03927.hp1 HG06807.hp2 NA18906.hp1 NA18964.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0010 others(28): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0031 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0246 a0001c0001t0001g0249 a0001c0001t0001g0253 a0001c0001t0001g0268 a0001c0001t0002g0151 a0001c0001t0004g0130 a0001c0001t0004g0133 a0001c0001t0004g0245 a0001c0001t0004g0247 a0001c0001t0005g0248 a0001c0001t0005g0250 a0001c0001t0005g0251 a0001c0001t0009g0252	32	135	0.2370	13	c.243 others(30): Show c.243+3600_243+3612dupTTTTTTTTTTTTT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	4/23			chr7	TogoVar
COPS4_chr4_83030183_83080818	83034147	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02886.hp2 HG01891.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0028 a0001c0001t0001g0032	2	120	0.0167	13	c.-10 others(24): Show c.-1078_-1077insAAAAAAAAAAAAA	COPS4	ENSG00000138663.9	transcript	ENST00000264389.7	protein_coding		1035		chr4	TogoVar
COPS7B_chr2_231781445_231814253	231808798	G G	GTGTGTGT others(6): Show GTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0165 a0001c0001t0028g0165	1	70	0.0143	13	c.11 others(24): Show c.1153_*1154insTGTGTGTGTGTGT	COPS7B	ENSG00000144524.18	transcript	ENST00000350033.8	protein_coding	7/7	1154		chr2	TogoVar
COPZ1_chr12_54320131_54356846	54323622	C C	CTCTTTCT others(6): Show CTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	118	0.0085	13	c.-15 others(24): Show c.-1542_-1541insTCTTTCTTTCTTT	COPZ1	ENSG00000111481.10	transcript	ENST00000262061.7	protein_coding		1508		chr12	TogoVar
COPZ1_chr12_54320131_54356846	54323670	T T	TTCTTTCT others(6): Show TTCTTTCTTTCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0087 a0001c0001t0006g0087	1	366	0.0027	13	c.-14 others(24): Show c.-1494_-1493insTCTTTCTTTCTTC	COPZ1	ENSG00000111481.10	transcript	ENST00000262061.7	protein_coding		1460		chr12	TogoVar
COPZ2_chr17_48021167_48042797	48021893	A A	ACTTTTTT others(6): Show ACTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp1 NA18997.hp2 NA19002.hp2 others(1): Show NA18978.hp1 NA18997.hp2 NA19002.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0031 a0001c0001t0001g0004 a0001c0001t0001g0031	4	121	0.0331	13	c.45 others(24): Show c.4534_*4535insAAAAAAAAAAAAG	COPZ2	ENSG00000005243.10	transcript	ENST00000621465.5	protein_coding		4273		chr17	TogoVar
COPZ2_chr17_48021167_48042797	48021893	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00639.hp2 HG00733.hp2 others(32): Show HG00408.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01106.hp2 HG01123.hp2 HG01255.hp1 HG02004.hp1 HG02027.hp1 HG02055.hp1 HG02109.hp2 HG02148.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02698.hp2 HG02738.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03209.hp1 HG03654.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18950.hp1 NA19085.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0009 others(17): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0038 a0001c0001t0001g0047 a0001c0001t0001g0061 a0001c0001t0001g0069 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0087 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0117	35	152	0.2303	13	c.45 others(24): Show c.4534_*4535insAAAAAAAAAAAAA	COPZ2	ENSG00000005243.10	transcript	ENST00000621465.5	protein_coding		4273		chr17	TogoVar
COQ10A_chr12_56261942_56275966	56266280	A A	ATAAATAA others(6): Show ATAAATAAATAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	303	0.0033	13	c.-83 others(22): Show c.-839_-838insTAAATAAATAAAG	COQ10A	ENSG00000135469.14	transcript	ENST00000308197.10	protein_coding		661		chr12	TogoVar
COQ5_chr12_120498279_120534158	120526698	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp1 HG01071.hp2 others(9): Show HG00738.hp1 HG01069.hp1 HG01071.hp2 HG01243.hp2 HG02055.hp2 HG02273.hp2 HG02572.hp1 HG02717.hp2 HG02723.hp1 NA18949.hp2 NA18975.hp1 NA19077.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0115 a0002c0003t0001g0035 a0002c0003t0001g0275 others(8): Show a0001c0001t0001g0115 a0002c0003t0001g0035 a0002c0003t0001g0275 a0002c0003t0001g0280 a0002c0003t0001g0281 a0002c0003t0001g0290 a0002c0003t0001g0307 a0002c0003t0001g0318 a0002c0003t0001g0323 a0002c0003t0001g0324 a0002c0003t0001g0327	12	30	0.4000	13	c.202 others(30): Show c.202+2229_202+2241dupAAAAAAAAAAAAA	COQ5	ENSG00000110871.15	transcript	ENST00000288532.11	protein_coding	1/6			chr12	TogoVar
COQ5_chr12_120498279_120534158	120527988	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18964.hp1 NA18946.hp2 NA18964.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0108 a0001c0002t0002g0109	2	18	0.1111	13	c.202 others(28): Show c.202+939_202+951dupTTTTTTTTTTTTT	COQ5	ENSG00000110871.15	transcript	ENST00000288532.11	protein_coding	1/6			chr12	TogoVar
COQ7_chr16_19062614_19085095	19077590	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0067 a0002c0003t0002g0067	1	48	0.0208	13	c.576 others(28): Show c.576+218_576+230dupTTTTTTTTTTTTT	COQ7	ENSG00000167186.11	transcript	ENST00000321998.10	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
COQ8A_chr1_226935294_226992544	226936611	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01167.hp1 HG01169.hp2 others(5): Show HG00741.hp1 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01358.hp2 HG03942.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 a0001c0001t0001 a0001c0001t0002 a0001c0003t0003	a0001c0001t0001g0051 a0001c0001t0001g0204 a0001c0001t0002g0236 others(4): Show a0001c0001t0001g0051 a0001c0001t0001g0204 a0001c0001t0002g0236 a0001c0003t0003g0006 a0001c0003t0003g0020 a0001c0003t0003g0077 a0001c0003t0003g0079	8	122	0.0656	13	c.-37 others(24): Show c.-3798_-3797insTTTTTTTTTTTTT	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding		3682		chr1	TogoVar
COQ8A_chr1_226935294_226992544	226971544	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG03834.hp2 HG02071.hp1 HG03834.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0005	a0003c0005t0005g0328 a0003c0005t0005g0330 a0003c0005t0005g0328 a0003c0005t0005g0330	2	400	0.0050	13	c.655 others(30): Show c.655+5812_655+5813insAAAAAAAAAAAAA	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
CORO2A_chr9_98115975_98197637	98119794	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 NA21309.hp1 HG01243.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0019 a0001c0001t0003 a0001c0001t0019	a0001c0001t0003g0277 a0001c0001t0019g0321 a0001c0001t0003g0277 a0001c0001t0019g0321	2	337	0.0059	13	c.49 others(24): Show c.4979_*4980insAAAAAAAAAAAAA	CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding		1180		chr9	TogoVar
CORO2A_chr9_98115975_98197637	98119798	G G	GTTTTTGT others(6): Show GTTTTTGTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp2 HG02040.hp1 NA18943.hp2 others(1): Show HG01071.hp2 HG02040.hp1 NA18943.hp2 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0220 a0001c0001t0002g0221 others(1): Show a0001c0001t0002g0099 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0267	4	241	0.0166	13	c.49 others(24): Show c.4975_*4976insAAAAAAACAAAAA	CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding		1176		chr9	TogoVar
CORO2A_chr9_98115975_98197637	98119798	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01192.hp2 HG01258.hp1 others(6): Show HG01106.hp2 HG01192.hp2 HG01258.hp1 HG01261.hp2 HG01433.hp2 HG01975.hp2 HG02647.hp1 HG02970.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0002 a0001c0001t0001g0035 a0001c0001t0001g0036 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0161 a0001c0001t0001g0178 a0001c0001t0002g0009 a0001c0001t0003g0139 a0001c0001t0003g0283	9	246	0.0366	13	c.49 others(24): Show c.4975_*4976insAAAAAAAAAAAAA	CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding		1176		chr9	TogoVar
CORO2B_chr15_68573993_68732806	68672159	G G	GTGTGTGT others(6): Show GTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0119 a0001c0001t0004g0119	1	9	0.1111	13	c.217 others(32): Show c.217-22981_217-22980insTGTGTGTGTGTGT	CORO2B	ENSG00000103647.13	transcript	ENST00000261861.10	protein_coding	2/11			chr15	TogoVar
CORO2B_chr15_68573993_68732806	68705436	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0164 a0001c0001t0005g0164	1	71	0.0141	13	c.334 others(30): Show c.334-5290_334-5278dupAAAAAAAAAAAAA	CORO2B	ENSG00000103647.13	transcript	ENST00000261861.10	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
CORO7_chr16_4349542_4421596	4371602	C C	CTGTAAAA others(6): Show CTGTAAAAAAATAG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0036	1	296	0.0034	13	c.786 others(30): Show c.786-6058_786-6057insCTATTTTTTTACA	CORO7	ENSG00000262246.6	transcript	ENST00000251166.9	protein_coding	9/27			chr16	TogoVar
CORO7_chr16_4349542_4421596	4395996	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(144): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00423.hp2 HG00544.hp2 HG00597.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01496.hp2 HG01516.hp1 HG01884.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02273.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03239.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp2 NA18612.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp2 NA18948.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18966.hp2 NA18969.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19066.hp2 NA19068.hp2 NA19079.hp1 NA19080.hp2 NA19084.hp2 NA19088.hp1 NA19089.hp1 NA20129.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0006 a0010 a0011 a0015	a0001c0002 a0002c0001 a0002c0006 others(9): Show a0001c0002 a0002c0001 a0002c0006 a0002c0013 a0003c0003 a0003c0018 a0003c0019 a0005c0007 a0006c0009 a0010c0012 a0011c0011 a0015c0010	a0001c0002t0001 a0001c0002t0002 a0002c0001t0001 others(12): Show a0001c0002t0001 a0001c0002t0002 a0002c0001t0001 a0002c0001t0002 a0002c0001t0004 a0002c0006t0001 a0002c0013t0001 a0003c0003t0001 a0003c0018t0001 a0003c0019t0001 a0005c0007t0001 a0006c0009t0001 a0010c0012t0001 a0011c0011t0001 a0015c0010t0001	a0001c0002t0001g0010 a0001c0002t0001g0021 a0001c0002t0001g0036 others(134): Show a0001c0002t0001g0010 a0001c0002t0001g0021 a0001c0002t0001g0036 a0001c0002t0001g0040 a0001c0002t0001g0088 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0198 a0001c0002t0002g0265 a0002c0001t0001g0004 a0002c0001t0001g0009 a0002c0001t0001g0011 a0002c0001t0001g0012 a0002c0001t0001g0013 a0002c0001t0001g0014 a0002c0001t0001g0017 a0002c0001t0001g0018 a0002c0001t0001g0019 a0002c0001t0001g0020 a0002c0001t0001g0035 a0002c0001t0001g0038 a0002c0001t0001g0047 a0002c0001t0001g0063 a0002c0001t0001g0065 a0002c0001t0001g0066 a0002c0001t0001g0073 a0002c0001t0001g0089 a0002c0001t0001g0097 a0002c0001t0001g0112 a0002c0001t0001g0130 a0002c0001t0001g0134 a0002c0001t0001g0142 a0002c0001t0001g0143 a0002c0001t0001g0144 a0002c0001t0001g0145 a0002c0001t0001g0146 a0002c0001t0001g0149 a0002c0001t0001g0154 a0002c0001t0001g0155 a0002c0001t0001g0156 a0002c0001t0001g0157 a0002c0001t0001g0158 a0002c0001t0001g0159 a0002c0001t0001g0160 a0002c0001t0001g0162 a0002c0001t0001g0163 a0002c0001t0001g0164 a0002c0001t0001g0165 a0002c0001t0001g0166 a0002c0001t0001g0167 a0002c0001t0001g0170 a0002c0001t0001g0171 a0002c0001t0001g0172 a0002c0001t0001g0174 a0002c0001t0001g0175 a0002c0001t0001g0176 a0002c0001t0001g0177 a0002c0001t0001g0178 a0002c0001t0001g0183 a0002c0001t0001g0184 a0002c0001t0001g0185 a0002c0001t0001g0186 a0002c0001t0001g0187 a0002c0001t0001g0188 a0002c0001t0001g0190 a0002c0001t0001g0191 a0002c0001t0001g0192 a0002c0001t0001g0193 a0002c0001t0001g0195 a0002c0001t0001g0196 a0002c0001t0001g0197 a0002c0001t0001g0199 a0002c0001t0001g0200 a0002c0001t0001g0203 a0002c0001t0001g0204 a0002c0001t0001g0206 a0002c0001t0001g0207 a0002c0001t0001g0209 a0002c0001t0001g0210 a0002c0001t0001g0211 a0002c0001t0001g0212 a0002c0001t0001g0213 a0002c0001t0001g0215 a0002c0001t0001g0217 a0002c0001t0001g0218 a0002c0001t0001g0219 a0002c0001t0001g0220 a0002c0001t0001g0221 a0002c0001t0001g0222 a0002c0001t0001g0224 a0002c0001t0001g0225 a0002c0001t0001g0226 a0002c0001t0001g0227 a0002c0001t0001g0228 a0002c0001t0001g0231 a0002c0001t0001g0232 a0002c0001t0001g0233 a0002c0001t0001g0234 a0002c0001t0001g0235 a0002c0001t0001g0236 a0002c0001t0001g0237 a0002c0001t0001g0238 a0002c0001t0001g0239 a0002c0001t0001g0240 a0002c0001t0001g0247 a0002c0001t0001g0250 a0002c0001t0001g0251 a0002c0001t0001g0252 a0002c0001t0001g0253 a0002c0001t0002g0276 a0002c0001t0004g0189 a0002c0006t0001g0015 a0002c0006t0001g0245 a0002c0013t0001g0205 a0003c0003t0001g0016 a0003c0003t0001g0259 a0003c0003t0001g0260 a0003c0003t0001g0261 a0003c0003t0001g0264 a0003c0003t0001g0266 a0003c0003t0001g0268 a0003c0003t0001g0269 a0003c0003t0001g0271 a0003c0003t0001g0272 a0003c0003t0001g0274 a0003c0018t0001g0275 a0003c0019t0001g0270 a0005c0007t0001g0044 a0005c0007t0001g0045 a0006c0009t0001g0246 a0010c0012t0001g0194 a0011c0011t0001g0223 a0015c0010t0001g0179	147	243	0.6049	13	c.565 others(28): Show c.565-658_565-657insCACACACACACAC	CORO7	ENSG00000262246.6	transcript	ENST00000251166.9	protein_coding	6/27			chr16	TogoVar
COTL1_chr16_84560596_84623078	84598783	G G	GGGAGAAC others(6): Show GGGAGAACCAAGCA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01175.hp1 HG01167.hp2 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0004g0174 a0001c0001t0004g0175	2	421	0.0048	13	c.161 others(30): Show c.161-8522_161-8521insTGCTTGGTTCTCC	COTL1	ENSG00000103187.8	transcript	ENST00000262428.5	protein_coding	2/3			chr16	TogoVar

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