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
EML5_chr14_88607431_88797953	88796990	T T	TTATATAT others(4): Show TTATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00673.hp1 HG01433.hp2 others(19): Show HG00423.hp1 HG00673.hp1 HG01433.hp2 HG01975.hp2 HG02015.hp1 HG02602.hp1 HG03516.hp1 NA18612.hp1 NA18939.hp2 NA18948.hp1 NA18952.hp1 NA18956.hp1 NA18963.hp2 NA18983.hp2 NA18990.hp1 NA18995.hp2 NA19002.hp2 NA19054.hp2 NA19060.hp2 NA19065.hp1 NA19084.hp2 NA19090.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0003 a0010c0009 a0001c0001 a0001c0003 a0010c0009	a0001c0001t0005 a0001c0001t0006 a0001c0001t0025 others(2): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0025 a0001c0003t0020 a0010c0009t0025	a0001c0001t0005g0171 a0001c0001t0005g0172 a0001c0001t0005g0175 others(19): Show a0001c0001t0005g0171 a0001c0001t0005g0172 a0001c0001t0005g0175 a0001c0001t0005g0176 a0001c0001t0005g0177 a0001c0001t0005g0178 a0001c0001t0005g0179 a0001c0001t0005g0180 a0001c0001t0005g0181 a0001c0001t0005g0182 a0001c0001t0005g0183 a0001c0001t0005g0184 a0001c0001t0005g0185 a0001c0001t0005g0186 a0001c0001t0005g0187 a0001c0001t0005g0189 a0001c0001t0005g0192 a0001c0001t0006g0188 a0001c0001t0025g0191 a0001c0003t0020g0173 a0001c0003t0020g0174 a0010c0009t0025g0190	22	332	0.0663	11	c.-44 others(22): Show c.-4488_-4487insTATAATATATA	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding		4038		chr14	TogoVar
EML6_chr2_54718662_54977025	54758910	T T	TACGGGTG others(4): Show TACGGGTGGTTC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0214 a0001c0002t0001g0214	1	264	0.0038	11	c.197 others(30): Show c.197+33653_197+33654insCGGGTGGTTCA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54758913	G G	GGGTGGTT others(4): Show GGGTGGTTCATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(191): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp2 HG02109.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 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 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18945.hp1 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18963.hp1 NA18963.hp2 NA18969.hp2 NA18971.hp1 NA18983.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp2 NA19064.hp1 NA19081.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0001c0002 a0001c0003 others(30): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0014 a0001c0015 a0001c0019 a0001c0021 a0001c0022 a0001c0024 a0001c0026 a0001c0028 a0001c0030 a0001c0031 a0001c0035 a0001c0037 a0001c0038 a0002c0008 a0002c0029 a0003c0013 a0004c0036 a0005c0023 a0006c0034 a0007c0032 a0008c0025 a0009c0033	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(85): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0034 a0001c0001t0036 a0001c0001t0042 a0001c0001t0055 a0001c0001t0056 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0010 a0001c0002t0011 a0001c0002t0013 a0001c0002t0015 a0001c0002t0020 a0001c0002t0023 a0001c0002t0024 a0001c0002t0041 a0001c0002t0044 a0001c0002t0046 a0001c0002t0049 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0009 a0001c0003t0011 a0001c0003t0015 a0001c0003t0027 a0001c0003t0035 a0001c0003t0054 a0001c0004t0001 a0001c0004t0006 a0001c0004t0010 a0001c0004t0017 a0001c0004t0024 a0001c0005t0007 a0001c0005t0016 a0001c0005t0040 a0001c0006t0003 a0001c0006t0018 a0001c0006t0025 a0001c0006t0051 a0001c0007t0006 a0001c0007t0017 a0001c0007t0029 a0001c0007t0052 a0001c0009t0005 a0001c0009t0008 a0001c0010t0001 a0001c0011t0012 a0001c0011t0031 a0001c0012t0001 a0001c0012t0045 a0001c0014t0003 a0001c0015t0001 a0001c0015t0043 a0001c0019t0001 a0001c0021t0037 a0001c0022t0057 a0001c0024t0026 a0001c0026t0004 a0001c0028t0030 a0001c0030t0001 a0001c0031t0038 a0001c0035t0047 a0001c0037t0006 a0001c0038t0015 a0002c0008t0012 a0002c0008t0022 a0002c0029t0012 a0003c0013t0005 a0004c0036t0012 a0005c0023t0017 a0006c0034t0001 a0007c0032t0053 a0008c0025t0003 a0009c0033t0006	a0001c0001t0001g0034 a0001c0001t0001g0048 a0001c0001t0001g0063 others(191): Show a0001c0001t0001g0034 a0001c0001t0001g0048 a0001c0001t0001g0063 a0001c0001t0001g0152 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0194 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0003g0105 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0143 a0001c0001t0004g0029 a0001c0001t0004g0242 a0001c0001t0005g0012 a0001c0001t0005g0033 a0001c0001t0005g0042 a0001c0001t0005g0043 a0001c0001t0005g0070 a0001c0001t0005g0078 a0001c0001t0005g0215 a0001c0001t0005g0231 a0001c0001t0005g0241 a0001c0001t0005g0243 a0001c0001t0007g0026 a0001c0001t0007g0180 a0001c0001t0007g0238 a0001c0001t0007g0239 a0001c0001t0008g0112 a0001c0001t0008g0123 a0001c0001t0014g0008 a0001c0001t0014g0009 a0001c0001t0014g0059 a0001c0001t0014g0170 a0001c0001t0016g0031 a0001c0001t0018g0037 a0001c0001t0019g0167 a0001c0001t0019g0168 a0001c0001t0019g0169 a0001c0001t0021g0044 a0001c0001t0021g0045 a0001c0001t0034g0146 a0001c0001t0036g0174 a0001c0001t0042g0198 a0001c0001t0055g0251 a0001c0001t0056g0258 a0001c0002t0001g0019 a0001c0002t0001g0021 a0001c0002t0001g0041 a0001c0002t0001g0072 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0003g0114 a0001c0002t0003g0125 a0001c0002t0004g0028 a0001c0002t0004g0065 a0001c0002t0004g0066 a0001c0002t0004g0067 a0001c0002t0004g0068 a0001c0002t0004g0075 a0001c0002t0005g0230 a0001c0002t0006g0003 a0001c0002t0006g0004 a0001c0002t0006g0006 a0001c0002t0006g0017 a0001c0002t0006g0020 a0001c0002t0006g0055 a0001c0002t0006g0077 a0001c0002t0006g0161 a0001c0002t0006g0263 a0001c0002t0010g0010 a0001c0002t0010g0025 a0001c0002t0010g0054 a0001c0002t0010g0056 a0001c0002t0010g0071 a0001c0002t0011g0108 a0001c0002t0011g0136 a0001c0002t0011g0264 a0001c0002t0013g0016 a0001c0002t0013g0022 a0001c0002t0013g0023 a0001c0002t0013g0024 a0001c0002t0015g0126 a0001c0002t0020g0162 a0001c0002t0020g0163 a0001c0002t0020g0164 a0001c0002t0023g0127 a0001c0002t0023g0142 a0001c0002t0024g0073 a0001c0002t0041g0095 a0001c0002t0044g0210 a0001c0002t0046g0051 a0001c0002t0049g0087 a0001c0003t0001g0252 a0001c0003t0002g0062 a0001c0003t0002g0148 a0001c0003t0002g0150 a0001c0003t0002g0151 a0001c0003t0002g0153 a0001c0003t0002g0154 a0001c0003t0002g0155 a0001c0003t0002g0156 a0001c0003t0002g0157 a0001c0003t0002g0158 a0001c0003t0002g0159 a0001c0003t0002g0192 a0001c0003t0002g0193 a0001c0003t0002g0204 a0001c0003t0002g0240 a0001c0003t0002g0253 a0001c0003t0002g0254 a0001c0003t0002g0255 a0001c0003t0002g0256 a0001c0003t0002g0257 a0001c0003t0004g0195 a0001c0003t0004g0196 a0001c0003t0004g0197 a0001c0003t0009g0097 a0001c0003t0009g0107 a0001c0003t0009g0111 a0001c0003t0009g0122 a0001c0003t0009g0132 a0001c0003t0009g0144 a0001c0003t0011g0115 a0001c0003t0015g0109 a0001c0003t0027g0149 a0001c0003t0035g0173 a0001c0003t0054g0166 a0001c0004t0001g0052 a0001c0004t0001g0079 a0001c0004t0001g0081 a0001c0004t0001g0083 a0001c0004t0006g0086 a0001c0004t0010g0060 a0001c0004t0017g0084 a0001c0004t0024g0050 a0001c0005t0007g0002 a0001c0005t0016g0082 a0001c0005t0016g0085 a0001c0005t0040g0094 a0001c0006t0003g0134 a0001c0006t0018g0039 a0001c0006t0018g0040 a0001c0006t0025g0212 a0001c0006t0025g0213 a0001c0006t0051g0038 a0001c0007t0006g0080 a0001c0007t0017g0172 a0001c0007t0029g0103 a0001c0007t0052g0001 a0001c0009t0005g0205 a0001c0009t0008g0106 a0001c0009t0008g0133 a0001c0010t0001g0237 a0001c0011t0012g0011 a0001c0011t0031g0104 a0001c0012t0001g0027 a0001c0012t0045g0233 a0001c0014t0003g0124 a0001c0014t0003g0128 a0001c0015t0001g0030 a0001c0015t0043g0018 a0001c0019t0001g0053 a0001c0021t0037g0014 a0001c0022t0057g0262 a0001c0024t0026g0171 a0001c0026t0004g0064 a0001c0028t0030g0135 a0001c0030t0001g0057 a0001c0031t0038g0074 a0001c0035t0047g0032 a0001c0037t0006g0007 a0001c0038t0015g0113 a0002c0008t0012g0058 a0002c0008t0022g0101 a0002c0008t0022g0102 a0002c0029t0012g0232 a0003c0013t0005g0035 a0003c0013t0005g0036 a0004c0036t0012g0013 a0005c0023t0017g0160 a0006c0034t0001g0208 a0007c0032t0053g0165 a0008c0025t0003g0110 a0009c0033t0006g0005	194	264	0.7349	11	c.197 others(30): Show c.197+33656_197+33666dupGGTGGTTCATA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54758921	C C	CATAGGTG others(4): Show CATAGGTGGTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02886.hp2 HG02922.hp1 others(4): Show HG02109.hp2 HG02886.hp2 HG02922.hp1 HG03471.hp2 HG03579.hp1 NA18522.hp2 NA19240.hp2	a0001 a0001	a0001c0004 a0001c0016 a0001c0004 a0001c0016	a0001c0004t0001 a0001c0004t0006 a0001c0016t0001 a0001c0004t0001 a0001c0004t0006 a0001c0016t0001	a0001c0004t0001g0015 a0001c0004t0001g0088 a0001c0004t0001g0090 others(4): Show a0001c0004t0001g0015 a0001c0004t0001g0088 a0001c0004t0001g0090 a0001c0004t0001g0092 a0001c0004t0001g0093 a0001c0004t0006g0089 a0001c0016t0001g0091	7	264	0.0265	11	c.197 others(30): Show c.197+33666_197+33667insGGTGGTTTATA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54778891	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG02109.hp2 others(26): Show HG01243.hp1 HG01243.hp2 HG02109.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG03041.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03516.hp2 HG03579.hp1 HG04204.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA19030.hp2 NA19043.hp2 NA19240.hp2 NA20129.hp1 NA21309.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0009	a0001c0001 a0001c0002 a0001c0004 others(8): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0011 a0001c0016 a0001c0031 a0001c0037 a0002c0008 a0005c0023 a0009c0033	a0001c0001t0014 a0001c0002t0006 a0001c0002t0010 others(15): Show a0001c0001t0014 a0001c0002t0006 a0001c0002t0010 a0001c0002t0011 a0001c0002t0049 a0001c0004t0001 a0001c0004t0006 a0001c0004t0017 a0001c0005t0007 a0001c0005t0016 a0001c0005t0040 a0001c0011t0031 a0001c0016t0001 a0001c0031t0038 a0001c0037t0006 a0002c0008t0022 a0005c0023t0017 a0009c0033t0006	a0001c0001t0014g0008 a0001c0001t0014g0009 a0001c0002t0006g0004 others(26): Show a0001c0001t0014g0008 a0001c0001t0014g0009 a0001c0002t0006g0004 a0001c0002t0006g0006 a0001c0002t0006g0263 a0001c0002t0010g0010 a0001c0002t0011g0264 a0001c0002t0049g0087 a0001c0004t0001g0015 a0001c0004t0001g0083 a0001c0004t0001g0088 a0001c0004t0001g0090 a0001c0004t0001g0092 a0001c0004t0001g0093 a0001c0004t0006g0086 a0001c0004t0006g0089 a0001c0004t0017g0084 a0001c0005t0007g0002 a0001c0005t0016g0082 a0001c0005t0016g0085 a0001c0005t0040g0094 a0001c0011t0031g0104 a0001c0016t0001g0091 a0001c0031t0038g0074 a0001c0037t0006g0007 a0002c0008t0022g0101 a0002c0008t0022g0102 a0005c0023t0017g0160 a0009c0033t0006g0005	29	264	0.1099	11	c.198 others(30): Show c.198-34339_198-34329dupAAAAAAAAAAA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54806612	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18983.hp2 HG03579.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0178 a0001c0001t0016g0031 a0001c0001t0001g0178 a0001c0001t0016g0031	2	264	0.0076	11	c.198 others(28): Show c.198-6598_198-6588dupAAAAAAAAAAA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54843964	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0029 a0001c0007t0029	a0001c0007t0029g0103 a0001c0007t0029g0103	1	264	0.0038	11	c.848 others(24): Show c.848-83_848-82insGTGTGTGTGTG	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	7/41			chr2	TogoVar
EML6_chr2_54718662_54977025	54882857	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02683.hp1 HG03239.hp2 others(1): Show HG01257.hp2 HG02683.hp1 HG03239.hp2 HG03704.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0204 a0001c0003t0002g0253 a0001c0003t0002g0255 others(1): Show a0001c0003t0002g0204 a0001c0003t0002g0253 a0001c0003t0002g0255 a0001c0003t0002g0256	4	264	0.0152	11	c.243 others(30): Show c.2438+3224_2438+3234dupAAAAAAAAAAA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	17/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54961184	G G	GTTGTTTT others(4): Show GTTGTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03688.hp1 HG03834.hp1 others(1): Show HG02145.hp1 HG03688.hp1 HG03834.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0015 a0001c0002t0023 a0001c0002t0010 a0001c0002t0015 a0001c0002t0023	a0001c0002t0010g0056 a0001c0002t0015g0126 a0001c0002t0023g0127 others(1): Show a0001c0002t0010g0056 a0001c0002t0015g0126 a0001c0002t0023g0127 a0001c0002t0023g0142	4	264	0.0152	11	c.496 others(28): Show c.4968+852_4968+853insGTTTTTTTTTT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	35/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EMP2_chr16_10523422_10585598	10575237	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0066 a0001c0004t0066	a0001c0004t0066g0038 a0001c0004t0066g0038	1	402	0.0025	11	c.-61 others(28): Show c.-61+5301_-61+5311dupAAAAAAAAAAA	EMP2	ENSG00000213853.10	transcript	ENST00000359543.8	protein_coding	1/4			chr16	TogoVar
EMP2_chr16_10523422_10585598	10579717	C C	CATAGTGA others(4): Show CATAGTGATGTT	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	402	0.0025	11	c.-61 others(26): Show c.-61+831_-61+832insAACATCACTAT	EMP2	ENSG00000213853.10	transcript	ENST00000359543.8	protein_coding	1/4			chr16	TogoVar
EMP3_chr19_48320552_48335553	48331198	C C	CTCTTTTT others(4): Show CTCTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG03704.hp1 NA19030.hp2 HG01358.hp2 HG03704.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0038 a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0038	3	376	0.0080	11	c.72 others(20): Show c.728_*729insTCTTTTTTTTT	EMP3	ENSG00000142227.11	transcript	ENST00000270221.11	protein_coding		646		chr19	TogoVar
EMSY_chr11_76440018_76558031	76523704	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02280.hp2 HG02572.hp1 HG02055.hp2 HG02280.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0010 a0001c0001t0006g0011 a0001c0001t0006g0013 a0001c0001t0006g0010 a0001c0001t0006g0011 a0001c0001t0006g0013	3	360	0.0083	11	c.186 others(28): Show c.1866+424_1866+434dupTTTTTTTTTTT	EMSY	ENSG00000158636.17	transcript	ENST00000695367.1	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
EMSY_chr11_76440018_76558031	76557204	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0012 a0001c0001t0006g0012	1	360	0.0028	11	c.70 others(22): Show c.7058_*7059insTTTTTTTTTTT	EMSY	ENSG00000158636.17	transcript	ENST00000695367.1	protein_coding		4174		chr11	TogoVar
ENAH_chr1_225481829_225658123	225608815	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02280.hp1 HG02559.hp2 others(2): Show HG01109.hp1 HG02280.hp1 HG02559.hp2 HG02622.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0058 a0001c0001t0071 others(2): Show a0001c0001t0003 a0001c0001t0058 a0001c0001t0071 a0001c0001t0072 a0001c0001t0089	a0001c0001t0003g0168 a0001c0001t0058g0086 a0001c0001t0071g0226 others(2): Show a0001c0001t0003g0168 a0001c0001t0058g0086 a0001c0001t0071g0226 a0001c0001t0072g0225 a0001c0001t0089g0151	5	308	0.0162	11	c.6-4 others(26): Show c.6-41412_6-41402dupTTTTTTTTTTT	ENAH	ENSG00000154380.19	transcript	ENST00000366843.7	protein_coding	1/13			chr1	TogoVar
ENDOD1_chr11_95084846_95137645	95135521	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00735.hp2 HG00738.hp1 others(37): Show HG00642.hp2 HG00735.hp2 HG00738.hp1 HG01099.hp2 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG01257.hp2 HG01361.hp2 HG01433.hp1 HG01891.hp1 HG02040.hp1 HG02055.hp2 HG02074.hp2 HG02148.hp1 HG02280.hp1 HG02630.hp2 HG02647.hp1 HG02738.hp1 HG02738.hp2 HG03540.hp1 HG03688.hp1 HG03688.hp2 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 NA18522.hp1 NA18954.hp2 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18977.hp1 NA18980.hp2 NA18984.hp1 NA18992.hp2 NA19003.hp2 NA19005.hp2 NA19010.hp1 NA19087.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0018 a0002c0002t0002 a0004c0004t0005 a0004c0004t0022 a0004c0004t0023	a0001c0001t0001g0002 a0001c0001t0001g0136 a0001c0001t0001g0162 others(35): Show a0001c0001t0001g0002 a0001c0001t0001g0136 a0001c0001t0001g0162 a0001c0001t0001g0313 a0001c0001t0004g0008 a0001c0001t0005g0009 a0001c0001t0005g0015 a0001c0001t0005g0028 a0001c0001t0005g0029 a0001c0001t0005g0090 a0001c0001t0007g0081 a0001c0001t0007g0082 a0001c0001t0007g0203 a0001c0001t0007g0306 a0001c0001t0007g0307 a0001c0001t0018g0272 a0002c0002t0002g0004 a0002c0002t0002g0023 a0002c0002t0002g0104 a0002c0002t0002g0108 a0002c0002t0002g0163 a0002c0002t0002g0171 a0002c0002t0002g0278 a0002c0002t0002g0287 a0002c0002t0002g0318 a0002c0002t0002g0322 a0002c0002t0002g0324 a0004c0004t0005g0045 a0004c0004t0005g0056 a0004c0004t0005g0089 a0004c0004t0005g0112 a0004c0004t0005g0140 a0004c0004t0005g0161 a0004c0004t0005g0211 a0004c0004t0005g0270 a0004c0004t0005g0320 a0004c0004t0022g0160 a0004c0004t0023g0215	40	368	0.1087	11	c.59 others(22): Show c.5942_*5943insTTTTTTTTTTT	ENDOD1	ENSG00000149218.5	transcript	ENST00000278505.5	protein_coding		2877		chr11	TogoVar
ENGASE_chr17_79069824_79093599	79072136	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01261.hp1 HG01884.hp1 others(20): Show HG01255.hp1 HG01261.hp1 HG01884.hp1 HG01884.hp2 HG02258.hp1 HG02258.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02895.hp2 HG02897.hp1 HG02976.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03540.hp1 NA18522.hp1 NA18906.hp2 NA19030.hp1 NA20129.hp2	a0001 a0004 a0005 others(3): Show a0001 a0004 a0005 a0008 a0009 a0010	a0001c0004 a0001c0008 a0001c0012 others(10): Show a0001c0004 a0001c0008 a0001c0012 a0001c0053 a0001c0055 a0001c0056 a0004c0007 a0004c0052 a0005c0022 a0008c0054 a0009c0029 a0009c0041 a0010c0025	a0001c0004t0016 a0001c0004t0030 a0001c0004t0036 others(13): Show a0001c0004t0016 a0001c0004t0030 a0001c0004t0036 a0001c0008t0022 a0001c0008t0082 a0001c0012t0021 a0001c0053t0001 a0001c0055t0022 a0001c0056t0062 a0004c0007t0050 a0004c0052t0018 a0005c0022t0051 a0008c0054t0055 a0009c0029t0034 a0009c0041t0034 a0010c0025t0024	a0001c0004t0016g0029 a0001c0004t0030g0042 a0001c0004t0036g0029 others(15): Show a0001c0004t0016g0029 a0001c0004t0030g0042 a0001c0004t0036g0029 a0001c0008t0022g0017 a0001c0008t0082g0017 a0001c0012t0021g0045 a0001c0012t0021g0109 a0001c0012t0021g0110 a0001c0053t0001g0076 a0001c0055t0022g0017 a0001c0056t0062g0055 a0004c0007t0050g0071 a0004c0052t0018g0106 a0005c0022t0051g0074 a0008c0054t0055g0073 a0009c0029t0034g0107 a0009c0041t0034g0138 a0010c0025t0024g0028	23	420	0.0548	11	c.-28 others(22): Show c.-2809_-2808insAAAAAAAAAAA	ENGASE	ENSG00000167280.17	transcript	ENST00000579016.6	protein_coding		2687		chr17	TogoVar
ENGASE_chr17_79069824_79093599	79080581	C C	CGGCTCCC others(4): Show CGGCTCCCACGT	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	420	0.0024	11	c.723 others(26): Show c.723+218_723+228dupGGCTCCCACGT	ENGASE	ENSG00000167280.17	transcript	ENST00000579016.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
ENG_chr9_127810016_127859658	127843756	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0009 a0009	a0009c0027 a0009c0027	a0009c0027t0001 a0009c0027t0001	a0009c0027t0001g0264 a0009c0027t0001g0264	1	344	0.0029	11	c.68- others(24): Show c.68-512_68-511insTATATATATAT	ENG	ENSG00000106991.14	transcript	ENST00000373203.9	protein_coding	1/14			chr9	TogoVar
ENO1_chr1_8856000_8883686	8883212	C C	CAAAAATA others(4): Show CAAAAATATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	414	0.0024	11	c.-46 others(22): Show c.-4643_-4642insTTTATATTTTT	ENO1	ENSG00000074800.16	transcript	ENST00000234590.10	protein_coding		4527		chr1	TogoVar
ENO3_chr17_4946119_4962129	4955807	T T	TTGTCTCT others(4): Show TTGTCTCTGCTC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02717.hp1 HG02886.hp1 others(5): Show HG02559.hp2 HG02717.hp1 HG02886.hp1 HG02965.hp1 HG03041.hp2 HG03209.hp2 HG03540.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0004t0001g0015 others(2): Show a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0004t0001g0015 a0001c0004t0001g0038 a0001c0004t0001g0066	8	440	0.0182	11	c.866 others(26): Show c.866-126_866-125insTCTGTCTCTGC	ENO3	ENSG00000108515.18	transcript	ENST00000519602.6	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
ENO3_chr17_4946119_4962129	4955905	T T	TCTGTCTC others(4): Show TCTGTCTCTGCC	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19065.hp2 NA19002.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0060 a0001c0001t0001g0048 a0001c0001t0001g0060	2	440	0.0046	11	c.866 others(24): Show c.866-26_866-16dupCCTGTCTCTGC	ENO3	ENSG00000108515.18	transcript	ENST00000519602.6	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
ENOSF1_chr18_665318_717630	667571	A A	AGATGGTG others(4): Show AGATGGTGATGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0103 a0002c0002t0011g0103	1	418	0.0024	11	c.67 others(22): Show c.6723_*6733dupCCATCACCATC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		2746		chr18	TogoVar
ENOSF1_chr18_665318_717630	667617	G G	GGAGATGG others(4): Show GGAGATGGAGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01261.hp2 HG01433.hp2 others(3): Show HG01106.hp1 HG01261.hp2 HG01433.hp2 NA18949.hp2 NA18978.hp2 NA19077.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0004 a0002c0002t0005 a0002c0002t0033 others(1): Show a0002c0002t0004 a0002c0002t0005 a0002c0002t0033 a0003c0004t0036	a0002c0002t0004g0056 a0002c0002t0004g0142 a0002c0002t0005g0003 others(3): Show a0002c0002t0004g0056 a0002c0002t0004g0142 a0002c0002t0005g0003 a0002c0002t0005g0212 a0002c0002t0033g0039 a0003c0004t0036g0364	6	418	0.0144	11	c.66 others(22): Show c.6687_*6688insATCTCCATCTC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		2700		chr18	TogoVar
ENOSF1_chr18_665318_717630	667617	G G	GGTGATGG others(4): Show GGTGATGGAGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0357 a0003c0004t0004g0357	1	418	0.0024	11	c.66 others(22): Show c.6687_*6688insATCTCCATCAC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		2700		chr18	TogoVar
ENOSF1_chr18_665318_717630	667992	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG02004.hp1 HG02135.hp1 others(22): Show HG00438.hp2 HG02004.hp1 HG02135.hp1 HG02155.hp1 HG02165.hp2 HG02717.hp1 HG03710.hp2 NA18612.hp1 NA18747.hp1 NA18940.hp2 NA18943.hp1 NA18959.hp2 NA18971.hp2 NA18975.hp2 NA18980.hp1 NA18994.hp2 NA19002.hp1 NA19003.hp2 NA19009.hp1 NA19011.hp1 NA19058.hp1 NA19066.hp1 NA19067.hp2 NA19079.hp2 NA19086.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0003c0007 a0001c0001 a0003c0004 a0003c0007	a0001c0001t0034 a0003c0004t0003 a0003c0004t0015 others(1): Show a0001c0001t0034 a0003c0004t0003 a0003c0004t0015 a0003c0007t0003	a0001c0001t0034g0105 a0003c0004t0003g0012 a0003c0004t0003g0013 others(22): Show a0001c0001t0034g0105 a0003c0004t0003g0012 a0003c0004t0003g0013 a0003c0004t0003g0347 a0003c0004t0003g0349 a0003c0004t0003g0350 a0003c0004t0003g0355 a0003c0004t0003g0356 a0003c0004t0003g0365 a0003c0004t0003g0370 a0003c0004t0003g0371 a0003c0004t0003g0373 a0003c0004t0003g0377 a0003c0004t0003g0383 a0003c0004t0003g0385 a0003c0004t0003g0387 a0003c0004t0003g0388 a0003c0004t0003g0392 a0003c0004t0003g0393 a0003c0004t0003g0394 a0003c0004t0003g0396 a0003c0004t0003g0400 a0003c0004t0015g0382 a0003c0007t0003g0361 a0003c0007t0003g0389	25	418	0.0598	11	c.63 others(22): Show c.6302_*6312dupAAAAAAAAAAA	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		2325		chr18	TogoVar
ENOSF1_chr18_665318_717630	706815	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0213 a0001c0006t0004g0213	1	418	0.0024	11	c.85- others(24): Show c.85-238_85-237insATATATATATA	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding	1/15			chr18	TogoVar
ENOSF1_chr18_665318_717630	706815	A A	ATATATAT others(4): Show ATATATATATTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0147 a0002c0002t0006g0147	1	418	0.0024	11	c.85- others(24): Show c.85-238_85-237insAAATATATATA	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding	1/15			chr18	TogoVar
ENOSF1_chr18_665318_717630	706816	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01891.hp1 HG02451.hp1 others(3): Show HG01496.hp1 HG01891.hp1 HG02451.hp1 HG02572.hp2 HG02647.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0002 a0001c0006 a0002c0002	a0001c0006t0004 a0002c0002t0005 a0001c0006t0004 a0002c0002t0005	a0001c0006t0004g0002 a0001c0006t0004g0148 a0001c0006t0004g0235 others(1): Show a0001c0006t0004g0002 a0001c0006t0004g0148 a0001c0006t0004g0235 a0002c0002t0005g0177	6	418	0.0144	11	c.85- others(24): Show c.85-239_85-238insTATATATATAT	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding	1/15			chr18	TogoVar
ENOSF1_chr18_665318_717630	713470	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01123.hp2 HG01175.hp2 others(7): Show HG00642.hp2 HG01123.hp2 HG01175.hp2 HG01361.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG02056.hp1 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0001 a0002c0002t0006 a0002c0005t0001 a0002c0002t0001 a0002c0002t0006 a0002c0005t0001	a0002c0002t0001g0099 a0002c0002t0006g0147 a0002c0005t0001g0019 others(7): Show a0002c0002t0001g0099 a0002c0002t0006g0147 a0002c0005t0001g0019 a0002c0005t0001g0038 a0002c0005t0001g0094 a0002c0005t0001g0095 a0002c0005t0001g0145 a0002c0005t0001g0176 a0002c0005t0001g0185 a0002c0005t0001g0209	10	418	0.0239	11	c.-88 others(20): Show c.-884_-883insTTTTTTTTTTT	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		841		chr18	TogoVar
ENOX1_chr13_43208130_43791972	43247883	A A	ATATATAT others(4): Show ATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0106 a0001c0001t0021g0106	1	188	0.0053	11	c.161 others(32): Show c.1612-11146_1612-11145insAAAAATATATA	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	14/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43417240	G G	GAGGGAGA others(4): Show GAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02818.hp2 HG03486.hp1 others(1): Show HG01243.hp2 HG02818.hp2 HG03486.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0009 a0001c0010 a0001c0002 a0001c0009 a0001c0010	a0001c0002t0006 a0001c0002t0016 a0001c0009t0001 others(1): Show a0001c0002t0006 a0001c0002t0016 a0001c0009t0001 a0001c0010t0006	a0001c0002t0006g0158 a0001c0002t0016g0049 a0001c0009t0001g0133 others(1): Show a0001c0002t0006g0158 a0001c0002t0016g0049 a0001c0009t0001g0133 a0001c0010t0006g0161	4	188	0.0213	11	c.-74 others(28): Show c.-74-4253_-74-4252insTCCCTCTCCCT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	3/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43417241	A A	AGGGAGAG others(4): Show AGGGAGAGGGAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02886.hp1 HG03540.hp1 others(2): Show HG02055.hp2 HG02886.hp1 HG03540.hp1 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0002t0001 a0001c0002t0006	a0001c0001t0003g0118 a0001c0001t0004g0071 a0001c0001t0007g0142 others(2): Show a0001c0001t0003g0118 a0001c0001t0004g0071 a0001c0001t0007g0142 a0001c0002t0001g0016 a0001c0002t0006g0169	5	188	0.0266	11	c.-74 others(28): Show c.-74-4254_-74-4253insCTCCCTCTCCC	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	3/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43460793	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02647.hp1 HG01981.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0036 a0001c0001t0008 a0001c0002t0036	a0001c0001t0008g0017 a0001c0002t0036g0164 a0001c0001t0008g0017 a0001c0002t0036g0164	2	188	0.0106	11	c.-75 others(30): Show c.-75+23205_-75+23215dupTTTTTTTTTTT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	3/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43541173	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0175 a0001c0002t0006g0175	1	188	0.0053	11	c.-21 others(32): Show c.-218-57032_-218-57022dupAAAAAAAAAAA	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	2/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43616204	A A	ATATATAT others(4): Show ATATATATATTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA19085.hp2 HG02109.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0010 a0001c0005t0003 a0001c0001t0010 a0001c0005t0003	a0001c0001t0010g0037 a0001c0005t0003g0120 a0001c0001t0010g0037 a0001c0005t0003g0120	2	188	0.0106	11	c.-21 others(32): Show c.-219+51274_-219+51275insAAATATATATA	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	2/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43616204	A A	ATATATAT others(4): Show ATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG04204.hp1 HG02080.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0074 a0001c0002t0001g0090 a0001c0001t0002g0074 a0001c0002t0001g0090	2	188	0.0106	11	c.-21 others(32): Show c.-219+51274_-219+51275insAAAAATATATA	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	2/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43616204	A A	ATATATTT others(4): Show ATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0152 a0001c0001t0005g0152	1	188	0.0053	11	c.-21 others(32): Show c.-219+51274_-219+51275insAAAAAAATATA	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	2/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43616205	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0021	1	188	0.0053	11	c.-21 others(32): Show c.-219+51273_-219+51274insTATATATATAT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	2/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43684095	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01516.hp2 HG02109.hp2 others(11): Show HG01496.hp2 HG01516.hp2 HG02109.hp2 HG02135.hp2 HG02622.hp1 HG03209.hp2 HG03579.hp2 NA18960.hp1 NA18962.hp1 NA19030.hp1 NA19062.hp1 NA19088.hp1 NA19091.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0006	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(7): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0040 a0001c0001t0042 a0001c0002t0006 a0001c0005t0003 a0002c0006t0006	a0001c0001t0002g0063 a0001c0001t0005g0140 a0001c0001t0005g0145 others(11): Show a0001c0001t0002g0063 a0001c0001t0005g0140 a0001c0001t0005g0145 a0001c0001t0006g0141 a0001c0001t0007g0142 a0001c0001t0007g0144 a0001c0001t0007g0146 a0001c0001t0011g0165 a0001c0001t0040g0139 a0001c0001t0042g0188 a0001c0002t0006g0143 a0001c0002t0006g0175 a0001c0005t0003g0120 a0002c0006t0006g0147	14	188	0.0745	11	c.-28 others(32): Show c.-284-16562_-284-16552dupTTTTTTTTTTT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	1/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43718676	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0024 a0002c0004t0024	a0002c0004t0024g0051 a0002c0004t0024g0051	1	188	0.0053	11	c.-28 others(32): Show c.-284-51143_-284-51133dupTTTTTTTTTTT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	1/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43756973	A A	AACAACAA others(4): Show AACAACAACAAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0046 a0001c0002t0001g0046	1	188	0.0053	11	c.-28 others(32): Show c.-285+29678_-285+29679insGTTGTTGTTGT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	1/16			chr13	TogoVar
ENOX2_chrX_130617325_130908209	130780873	A A	ATGGAGTT others(4): Show ATGGAGTTGACT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01891.hp1 HG01123.hp2 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0020 a0001c0001t0011g0007 a0001c0001t0001g0020 a0001c0001t0011g0007	2	154	0.0130	11	c.-39 others(28): Show c.-39+2673_-39+2674insAGTCAACTCCA	ENOX2	ENSG00000165675.19	transcript	ENST00000394363.6	protein_coding	3/14			chrX	TogoVar
ENPEP_chr4_110471155_110570285	110558032	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02809.hp1 HG03927.hp1 others(1): Show HG02738.hp1 HG02809.hp1 HG03927.hp1 NA18991.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0027 a0002c0002t0001 a0001c0001t0001 a0001c0001t0027 a0002c0002t0001	a0001c0001t0001g0202 a0001c0001t0027g0142 a0002c0002t0001g0032 others(1): Show a0001c0001t0001g0202 a0001c0001t0027g0142 a0002c0002t0001g0032 a0002c0002t0001g0033	4	312	0.0128	11	c.264 others(30): Show c.2643-1610_2643-1600dupTTTTTTTTTTT	ENPEP	ENSG00000138792.10	transcript	ENST00000265162.10	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
ENPP1_chr6_131803020_131900155	131859602	G G	GGGACTGA others(4): Show GGGACTGAACGT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp2 HG01175.hp1 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0089 a0001c0001t0001 a0001c0001t0089	a0001c0001t0001g0237 a0001c0001t0089g0140 a0001c0001t0001g0237 a0001c0001t0089g0140	2	292	0.0069	11	c.796 others(26): Show c.796-783_796-782insACTGAACGTGG	ENPP1	ENSG00000197594.14	transcript	ENST00000647893.1	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP1_chr6_131803020_131900155	131873849	C C	CTTTCATA others(4): Show CTTTCATATATA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0013 a0013	a0013c0021 a0013c0021	a0013c0021t0051 a0013c0021t0051	a0013c0021t0051g0191 a0013c0021t0051g0191	1	292	0.0034	11	c.156 others(28): Show c.1566-418_1566-417insTTCATATATAT	ENPP1	ENSG00000197594.14	transcript	ENST00000647893.1	protein_coding	15/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP1_chr6_131803020_131900155	131877838	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0068 a0002c0002t0068	a0002c0002t0068g0117 a0002c0002t0068g0117	1	292	0.0034	11	c.189 others(28): Show c.1894-685_1894-675dupAAAAAAAAAAA	ENPP1	ENSG00000197594.14	transcript	ENST00000647893.1	protein_coding	18/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP1_chr6_131803020_131900155	131877866	A A	AAAAAAAA others(4): Show AAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02293.hp1 HG00673.hp2 HG02293.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0022 a0002c0002t0004 a0002c0002t0022	a0002c0002t0004g0049 a0002c0002t0022g0081 a0002c0002t0004g0049 a0002c0002t0022g0081	2	292	0.0069	11	c.189 others(28): Show c.1894-675_1894-674insAAAAAAAAATA	ENPP1	ENSG00000197594.14	transcript	ENST00000647893.1	protein_coding	18/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP1_chr6_131803020_131900155	131877866	A A	AAAAAAAA others(4): Show AAAAAAAAATAT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0202 a0002c0002t0004g0202	1	292	0.0034	11	c.189 others(28): Show c.1894-675_1894-674insAAAAAAATATA	ENPP1	ENSG00000197594.14	transcript	ENST00000647893.1	protein_coding	18/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP1_chr6_131803020_131900155	131877866	A A	AAAAAAAT others(4): Show AAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 NA20752.hp2 HG01358.hp1 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0077 a0002c0002t0001 a0002c0002t0077	a0002c0002t0001g0061 a0002c0002t0077g0072 a0002c0002t0001g0061 a0002c0002t0077g0072	2	292	0.0069	11	c.189 others(28): Show c.1894-675_1894-674insAAAAATATATA	ENPP1	ENSG00000197594.14	transcript	ENST00000647893.1	protein_coding	18/24		INFO_REALIGN_3_PRIME	chr6	TogoVar

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