Joint Open Genome and Omics Platform (JoGo)

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Snpeff genename

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Snpeff haplotype class

Snpeff annotation impact

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
A3GALT2_chr1_33301766_33326098	33307710	T T	TCCCCACC others(26): Show TCCCCACCTCACCCCACTCCCACCTCCCCCCCAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00423.hp2 others(167): Show HG00099.hp1 HG00099.hp2 HG00423.hp2 HG00558.hp1 HG00597.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01346.hp1 HG01361.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18969.hp2 NA18971.hp2 NA18974.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18995.hp1 NA18998.hp2 NA19007.hp2 NA19010.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp2 NA19057.hp1 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19074.hp1 NA19077.hp2 NA19081.hp1 NA19087.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0006 a0007 a0009 a0010 a0012	a0001c0001 a0001c0014 a0001c0015 others(8): Show a0001c0001 a0001c0014 a0001c0015 a0002c0002 a0003c0003 a0005c0004 a0006c0005 a0007c0007 a0009c0011 a0010c0010 a0012c0012	a0001c0001t0001 a0001c0014t0001 a0001c0015t0001 others(8): Show a0001c0001t0001 a0001c0014t0001 a0001c0015t0001 a0002c0002t0001 a0003c0003t0001 a0005c0004t0001 a0006c0005t0001 a0007c0007t0001 a0009c0011t0001 a0010c0010t0001 a0012c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 others(93): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0151 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0014t0001g0059 a0001c0015t0001g0123 a0002c0002t0001g0044 a0002c0002t0001g0100 a0002c0002t0001g0102 a0003c0003t0001g0033 a0003c0003t0001g0091 a0005c0004t0001g0111 a0005c0004t0001g0118 a0006c0005t0001g0034 a0007c0007t0001g0036 a0009c0011t0001g0169 a0010c0010t0001g0125 a0012c0012t0001g0114	170	410	0.4146	33	c.336 others(48): Show c.336-290_336-258dupGTGGGGGGGAGGTGGGAGTGGGGTGAGGTG GGG	A3GALT2	ENSG00000184389.9	transcript	ENST00000442999.3	protein_coding	4/4			chr1	TogoVar
A4GALT_chr22_42687121_42725870	42720271	C C	CTCGCCCT others(26): Show CTCGCCCTTCCCGCTTCTGAGCAGGTCCAAATCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00323.hp2 others(187): Show HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01993.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG03130.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03831.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19001.hp2 NA19002.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19089.hp2 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0007 others(7): Show a0001c0001 a0001c0002 a0001c0007 a0001c0009 a0001c0010 a0002c0003 a0002c0008 a0003c0004 a0004c0005 a0005c0006	a0001c0001t0002 a0001c0001t0004 a0001c0001t0018 others(19): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0018 a0001c0001t0019 a0001c0001t0022 a0001c0001t0024 a0001c0001t0026 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0009 a0001c0007t0004 a0001c0009t0013 a0001c0010t0009 a0002c0003t0001 a0002c0003t0004 a0002c0003t0008 a0002c0008t0001 a0003c0004t0006 a0004c0005t0010 a0005c0006t0001	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 others(181): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0090 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0098 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0117 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0227 a0001c0001t0002g0235 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0004g0232 a0001c0001t0004g0234 a0001c0001t0004g0237 a0001c0001t0004g0239 a0001c0001t0004g0392 a0001c0001t0018g0233 a0001c0001t0019g0210 a0001c0001t0022g0114 a0001c0001t0024g0241 a0001c0001t0026g0174 a0001c0002t0002g0199 a0001c0002t0004g0091 a0001c0002t0004g0093 a0001c0002t0004g0097 a0001c0002t0005g0092 a0001c0002t0005g0096 a0001c0002t0005g0099 a0001c0002t0005g0100 a0001c0002t0005g0101 a0001c0002t0005g0102 a0001c0002t0005g0103 a0001c0002t0005g0115 a0001c0002t0005g0116 a0001c0002t0005g0119 a0001c0002t0005g0131 a0001c0002t0005g0136 a0001c0002t0005g0143 a0001c0002t0005g0150 a0001c0002t0005g0152 a0001c0002t0005g0173 a0001c0002t0005g0186 a0001c0002t0005g0201 a0001c0002t0005g0202 a0001c0002t0005g0203 a0001c0002t0005g0204 a0001c0002t0005g0205 a0001c0002t0005g0206 a0001c0002t0005g0217 a0001c0002t0005g0251 a0001c0002t0005g0252 a0001c0002t0005g0259 a0001c0002t0006g0006 a0001c0002t0006g0111 a0001c0002t0006g0118 a0001c0002t0006g0151 a0001c0002t0006g0166 a0001c0002t0006g0171 a0001c0002t0006g0213 a0001c0002t0006g0215 a0001c0002t0006g0219 a0001c0002t0006g0220 a0001c0002t0009g0124 a0001c0002t0009g0246 a0001c0002t0009g0255 a0001c0007t0004g0393 a0001c0009t0013g0113 a0001c0010t0009g0240 a0001c0010t0009g0247 a0001c0010t0009g0248 a0002c0003t0001g0005 a0002c0003t0001g0088 a0002c0003t0001g0123 a0002c0003t0001g0125 a0002c0003t0001g0126 a0002c0003t0001g0127 a0002c0003t0001g0142 a0002c0003t0001g0146 a0002c0003t0001g0160 a0002c0003t0001g0175 a0002c0003t0001g0176 a0002c0003t0001g0185 a0002c0003t0001g0200 a0002c0003t0001g0228 a0002c0003t0001g0229 a0002c0003t0001g0230 a0002c0003t0001g0231 a0002c0003t0001g0236 a0002c0003t0001g0238 a0002c0003t0001g0244 a0002c0003t0001g0245 a0002c0003t0001g0253 a0002c0003t0001g0254 a0002c0003t0001g0256 a0002c0003t0001g0257 a0002c0003t0001g0258 a0002c0003t0004g0140 a0002c0003t0008g0013 a0002c0008t0001g0112 a0003c0004t0006g0221 a0003c0004t0006g0222 a0003c0004t0006g0223 a0003c0004t0006g0224 a0003c0004t0006g0225 a0003c0004t0006g0226 a0004c0005t0010g0089 a0005c0006t0001g0007 a0005c0006t0001g0260 a0005c0006t0001g0261 a0005c0006t0001g0394	190	404	0.4703	33	c.-18 others(50): Show c.-188+525_-188+526insAGATTTGGACCTGCTCAGAAGCGGGAAG GGCGA	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
AARSD1_chr17_42945526_42969454	42965014	C C	CTGAGGCA others(26): Show CTGAGGCAGGAGAATCGCTGGAACCCGGGAGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	322	0.0031	33	c.-57 others(42): Show c.-575_-574insCGCCTCCCGGGTTCCAGCGATTCTCCTGCCTCA	AARSD1	ENSG00000266967.7	transcript	ENST00000427569.7	protein_coding		561		chr17	TogoVar
ABCA10_chr17_69143007_69233824	69210170	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0004 a0005c0005t0004	a0005c0005t0004g0221 a0005c0005t0004g0221	1	176	0.0057	33	c.100 others(52): Show c.1006+4533_1006+4534insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38			chr17	TogoVar
ABCA1_chr9_104776006_104933155	104862689	C C	CCCACCCC others(26): Show CCCACCCCCACCCCCACCCCCACCCCCACCCCCA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0026 a0002c0017t0026	a0002c0017t0026g0190 a0002c0017t0026g0190	1	205	0.0049	33	c.422 others(48): Show c.422-890_422-889insTGGGGGTGGGGGTGGGGGTGGGGGTGGGGG TGG	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA5_chr17_69239311_69332133	69263697	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03209.hp2 HG02615.hp2 HG03209.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0003 a0004c0005t0003	a0004c0005t0003g0204 a0004c0005t0003g0211 a0004c0005t0003g0204 a0004c0005t0003g0211	2	18	0.1111	33	c.331 others(52): Show c.3315+1037_3315+1038insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	24/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69303785	A A	AAAAAAAT others(26): Show AAAAAAATATATATATACACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG03942.hp2 others(1): Show HG01167.hp1 HG01169.hp2 HG03942.hp2 NA18975.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0001 a0003c0003t0003g0021 a0003c0003t0003g0025 a0003c0003t0003g0001 a0003c0003t0003g0021 a0003c0003t0003g0025	4	240	0.0167	33	c.931 others(48): Show c.931-880_931-879insATATATATATATATGTGTATATATATATTT TTT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	7/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69303785	A A	AAAAAAAT others(26): Show AAAAAAATATATATATATACACATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0032 a0003c0003t0003g0032	1	237	0.0042	33	c.931 others(48): Show c.931-880_931-879insATATATATATATGTGTATATATATATATTT TTT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	7/38			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68957886	C C	CAGACATG others(26): Show CAGACATGGTATCTATTCCTAGAGCAGATACATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0008 a0008	a0008c0025 a0008c0025	a0008c0025t0001 a0008c0025t0001	a0008c0025t0001g0103 a0008c0025t0001g0103	1	272	0.0037	33	c.-28 others(44): Show c.-2835_-2834insCATGTATCTGCTCTAGGAATAGATACCATGTCT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding		2495		chr17	TogoVar
ABCB10_chr1_229511582_229563707	229535038	T T	TAAAAAAA others(26): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0118 a0001c0002t0003g0118	1	90	0.0111	33	c.134 others(52): Show c.1340-3308_1340-3307insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	ABCB10	ENSG00000135776.5	transcript	ENST00000344517.5	protein_coding	6/12			chr1	TogoVar
ABCB7_chrX_75046048_75161283	75104047	G G	GTTTTTTT others(26): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	22	0.0455	33	c.334 others(50): Show c.334-5019_334-4987dupAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	ABCB7	ENSG00000131269.19	transcript	ENST00000373394.8	protein_coding	3/15			chrX	TogoVar
ABCC1_chr16_15944616_16148053	15949611	G G	GCGCCGCC others(26): Show GCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0198 a0001c0004t0002g0198	1	51	0.0196	33	c.-14 others(42): Show c.-141_-140insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding		4		chr16	TogoVar
ABCC1_chr16_15944616_16148053	16143530	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0121 a0001c0002t0007g0121	1	48	0.0208	33	c.22 others(44): Show c.2249_*2250insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding		478		chr16	TogoVar
ABCC2_chr10_99777640_99857594	99778449	C C	CAGAGAGA others(26): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 NA18989.hp1 NA19060.hp1 HG02630.hp2 NA18989.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0213 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0213	3	124	0.0242	33	c.-43 others(44): Show c.-4396_-4395insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAGAG	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding		4190		chr10	TogoVar
ABCC3_chr17_50629881_50697253	50674030	C C	CTTCTTTC others(26): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	145	0.0069	33	c.259 others(50): Show c.2599+373_2599+374insTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50674034	C C	CTTCTTTC others(26): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0287 a0001c0024t0001g0287	1	102	0.0098	33	c.259 others(50): Show c.2599+377_2599+378insTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABHD12B_chr14_50867053_50909970	50870956	A A	AAAGAAGA others(26): Show AAAGAAGAGAAGAAAGAAAGAAAGAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	373	0.0027	33	c.-12 others(44): Show c.-1219_-1218insAAGAAGAGAAGAAAGAAAGAAAGAGAAAGAAAG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1096		chr14	TogoVar
ABHD12_chr20_25295214_25395835	25322381	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0270 a0001c0003t0002g0270	1	93	0.0108	33	c.422 others(48): Show c.422+943_422+944insAAAAAAATATATATATATATATATATATAT ATA	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12			chr20	TogoVar
ABHD12_chr20_25295214_25395835	25322381	A A	ATATATAT others(26): Show ATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0260 a0001c0003t0002g0260	1	93	0.0108	33	c.422 others(48): Show c.422+943_422+944insAAAAAAAAAAAAATATATATATATATATAT ATA	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12			chr20	TogoVar
ABHD17A_chr19_1871810_1890496	1874935	G G	GACTGTCA others(26): Show GACTGTCAGTGGTAACAATGATCAACGTAACATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	414	0.0024	33	c.22 others(44): Show c.2264_*2265insTATGTTACGTTGATCATTGTTACCACTGACAGT	ABHD17A	ENSG00000129968.17	transcript	ENST00000292577.12	protein_coding		1874		chr19	TogoVar
ABLIM2_chr4_7960327_8163813	8036367	G G	GGATGCAT others(26): Show GGATGCATCCCACAGGACAGTGCCCCCAAAGCCA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	320	0.0031	33	c.901 others(47): Show c.901-105_901-73dupTGGCTTTGGGGGCACTGTCCTGTGGGATGCA TC	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	9/20			chr4	TogoVar
ABLIM2_chr4_7960327_8163813	8084519	G G	GGTCAAGC others(26): Show GGTCAAGCCTGTGCTGGAGAAAAAGAAGTGGACT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0275 a0001c0001t0003g0275	1	320	0.0031	33	c.454 others(50): Show c.454+3649_454+3650insAGTCCACTTCTTTTTCTCCAGCACAGGC TTGAC	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	4/20			chr4	TogoVar
ABR_chr17_998519_1184981	1013349	G G	GCCGCCGT others(26): Show GCCGCCGTGGGGGAGGCAGGGCACACCCTGTTAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp2 HG02622.hp1 others(2): Show HG01109.hp2 HG01243.hp2 HG02622.hp1 NA18522.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0029 a0001c0001t0043 a0001c0003t0025 others(1): Show a0001c0001t0029 a0001c0001t0043 a0001c0003t0025 a0001c0003t0082	a0001c0001t0029g0115 a0001c0001t0029g0178 a0001c0001t0043g0007 others(2): Show a0001c0001t0029g0115 a0001c0001t0029g0178 a0001c0001t0043g0007 a0001c0003t0025g0008 a0001c0003t0082g0286	5	329	0.0152	33	c.179 others(50): Show c.1792-218_1792-186dupGTAACAGGGTGTGCCCTGCCTCCCCCAC GGCGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22			chr17	TogoVar
ABR_chr17_998519_1184981	1042530	G G	GATGTGGC others(26): Show GATGTGGCACCTACATCCACAGATGGACGAACAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(152): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00738.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01243.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG03041.hp2 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03491.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG04199.hp1 HG04199.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18962.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0010 a0001c0014 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(51): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0019 a0001c0001t0022 a0001c0001t0026 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0049 a0001c0001t0050 a0001c0001t0056 a0001c0001t0063 a0001c0001t0064 a0001c0001t0071 a0001c0001t0072 a0001c0001t0074 a0001c0001t0076 a0001c0001t0077 a0001c0001t0083 a0001c0001t0085 a0001c0003t0012 a0001c0003t0016 a0001c0003t0017 a0001c0003t0021 a0001c0003t0023 a0001c0003t0025 a0001c0003t0054 a0001c0003t0079 a0001c0004t0048 a0001c0006t0047 a0001c0007t0003 a0001c0010t0001 a0001c0014t0010 a0002c0005t0001	a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0082 others(152): Show a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0132 a0001c0001t0001g0145 a0001c0001t0001g0156 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0182 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0215 a0001c0001t0001g0231 a0001c0001t0002g0052 a0001c0001t0002g0084 a0001c0001t0002g0087 a0001c0001t0002g0098 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0130 a0001c0001t0002g0137 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0171 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0191 a0001c0001t0003g0058 a0001c0001t0003g0061 a0001c0001t0003g0066 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0077 a0001c0001t0003g0111 a0001c0001t0003g0116 a0001c0001t0003g0120 a0001c0001t0003g0142 a0001c0001t0003g0167 a0001c0001t0003g0193 a0001c0001t0003g0220 a0001c0001t0004g0249 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0258 a0001c0001t0004g0259 a0001c0001t0004g0264 a0001c0001t0004g0291 a0001c0001t0004g0299 a0001c0001t0004g0301 a0001c0001t0004g0309 a0001c0001t0004g0330 a0001c0001t0004g0333 a0001c0001t0005g0255 a0001c0001t0005g0271 a0001c0001t0005g0272 a0001c0001t0005g0274 a0001c0001t0005g0285 a0001c0001t0005g0292 a0001c0001t0005g0305 a0001c0001t0005g0310 a0001c0001t0005g0323 a0001c0001t0006g0055 a0001c0001t0006g0075 a0001c0001t0006g0085 a0001c0001t0006g0088 a0001c0001t0006g0093 a0001c0001t0006g0095 a0001c0001t0006g0140 a0001c0001t0006g0205 a0001c0001t0006g0209 a0001c0001t0006g0219 a0001c0001t0006g0234 a0001c0001t0007g0289 a0001c0001t0007g0307 a0001c0001t0007g0324 a0001c0001t0007g0325 a0001c0001t0008g0024 a0001c0001t0008g0025 a0001c0001t0008g0041 a0001c0001t0009g0003 a0001c0001t0009g0021 a0001c0001t0009g0033 a0001c0001t0009g0044 a0001c0001t0010g0261 a0001c0001t0010g0275 a0001c0001t0010g0300 a0001c0001t0010g0315 a0001c0001t0011g0124 a0001c0001t0012g0092 a0001c0001t0012g0184 a0001c0001t0013g0027 a0001c0001t0013g0042 a0001c0001t0013g0047 a0001c0001t0013g0048 a0001c0001t0015g0263 a0001c0001t0015g0266 a0001c0001t0015g0276 a0001c0001t0019g0056 a0001c0001t0019g0212 a0001c0001t0019g0217 a0001c0001t0022g0030 a0001c0001t0022g0046 a0001c0001t0026g0026 a0001c0001t0028g0121 a0001c0001t0030g0106 a0001c0001t0031g0242 a0001c0001t0032g0304 a0001c0001t0033g0265 a0001c0001t0034g0002 a0001c0001t0035g0013 a0001c0001t0036g0043 a0001c0001t0044g0020 a0001c0001t0045g0248 a0001c0001t0046g0153 a0001c0001t0049g0197 a0001c0001t0050g0133 a0001c0001t0056g0175 a0001c0001t0063g0240 a0001c0001t0064g0136 a0001c0001t0071g0176 a0001c0001t0072g0246 a0001c0001t0074g0155 a0001c0001t0076g0079 a0001c0001t0077g0290 a0001c0001t0083g0331 a0001c0001t0085g0302 a0001c0003t0012g0104 a0001c0003t0016g0162 a0001c0003t0016g0221 a0001c0003t0016g0230 a0001c0003t0017g0119 a0001c0003t0021g0277 a0001c0003t0023g0005 a0001c0003t0025g0004 a0001c0003t0025g0008 a0001c0003t0054g0232 a0001c0003t0079g0288 a0001c0004t0048g0199 a0001c0006t0047g0228 a0001c0007t0003g0139 a0001c0010t0001g0138 a0001c0014t0010g0308 a0002c0005t0001g0187 a0002c0005t0001g0198	155	336	0.4613	33	c.179 others(52): Show c.1791+7519_1791+7520insTTGTTCGTCCATCTGTGGATGTAGGT GCCACAT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22			chr17	TogoVar
ABTB3_chr12_107313434_107664642	107441774	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0031 a0001c0011t0031	a0001c0011t0031g0075 a0001c0011t0031g0075	1	128	0.0078	33	c.113 others(54): Show c.1136-78696_1136-78695insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACA_chr17_37079992_37411836	37163196	T T	TAAAAAAA others(26): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03942.hp1 HG03669.hp2 HG03942.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0110 a0001c0003t0013g0111 a0001c0003t0013g0110 a0001c0003t0013g0111	2	84	0.0238	33	c.508 others(52): Show c.5080-1147_5080-1146insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37174020	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0088 a0001c0004t0005g0088	1	99	0.0101	33	c.507 others(52): Show c.5079+5239_5079+5240insAAAAAAATATATATATATATATATAT ATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390304	T T	TTTTATAT others(26): Show TTTTATATATATATATATTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01952.hp2 HG01109.hp1 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0004 a0001c0004t0005 a0001c0001t0004 a0001c0004t0005	a0001c0001t0004g0160 a0001c0004t0005g0158 a0001c0001t0004g0160 a0001c0004t0005g0158	2	195	0.0103	33	c.38+ others(50): Show c.38+15957_38+15958insTATATATATATATATAATATATATATAT ATAAA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACAD10_chr12_111681053_111762099	111718036	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0018 a0001c0002t0002g0018	1	56	0.0179	33	c.992 others(50): Show c.992+2105_992+2106insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	ACAD10	ENSG00000111271.15	transcript	ENST00000313698.9	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAT1_chr11_108116567_108152603	108131354	A A	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA19003.hp1 NA19078.hp2 others(1): Show HG03710.hp1 NA19003.hp1 NA19078.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0146 a0001c0001t0001g0153 a0002c0002t0002g0290 others(1): Show a0001c0001t0001g0146 a0001c0001t0001g0153 a0002c0002t0002g0290 a0002c0002t0002g0291	4	16	0.2500	33	c.73- others(46): Show c.73-535_73-534insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	ACAT1	ENSG00000075239.14	transcript	ENST00000265838.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACIN1_chr14_23053564_23100136	23061971	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0002 a0005c0014t0002	a0005c0014t0002g0214 a0005c0014t0002g0214	1	194	0.0052	33	c.309 others(50): Show c.3099+196_3099+197insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	ACIN1	ENSG00000100813.15	transcript	ENST00000605057.6	protein_coding	16/18			chr14	TogoVar
ACOD1_chr13_76943511_76963638	76944257	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG02683.hp2 NA18949.hp2 others(3): Show HG00597.hp2 HG02683.hp2 NA18949.hp2 NA18986.hp1 NA19076.hp2 NA19083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0009 a0001c0002t0001g0004 a0001c0002t0001g0009	6	100	0.0600	33	c.-43 others(44): Show c.-4302_-4301insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ACOD1	ENSG00000102794.11	transcript	ENST00000377462.6	protein_coding		4253		chr13	TogoVar
ACOT11_chr1_54543228_54615329	54613041	G G	GGGGGGGG others(26): Show GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0246 a0001c0001t0002g0246	1	386	0.0026	33	c.39 others(44): Show c.3929_*3930insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCGC	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding		2713		chr1	TogoVar
ACOT13_chr6_24662077_24710046	24667027	T T	TGGGTGCG others(26): Show TGGGTGCGAAGCGCGCATGCGCGCTTCGTCACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	392	0.0026	33	c.-23 others(42): Show c.-237_-236insGGGTGCGAAGCGCGCATGCGCGCTTCGTCACAA	ACOT13	ENSG00000112304.11	transcript	ENST00000230048.5	protein_coding		49		chr6	TogoVar
ACOXL_chr2_110727573_111123548	111120979	T T	TGCCGCTG others(26): Show TGCCGCTGCCGCCGCCGCCGCCGCCGCCGCCGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	16	0.0625	33	c.31 others(44): Show c.3163_*3164insGCCGCTGCCGCCGCCGCCGCCGCCGCCGCCGCC	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding		2432		chr2	TogoVar
ACOXL_chr2_110727573_111123548	111120979	T T	TGCCGCTG others(26): Show TGCCGCTGCCGCTGCCGCCGCCGCCGCCGCCGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	16	0.0625	33	c.31 others(44): Show c.3163_*3164insGCCGCTGCCGCTGCCGCCGCCGCCGCCGCCGCC	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding		2432		chr2	TogoVar
ACP3_chr3_132312407_132363841	132325619	C C	CACACACA others(26): Show CACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0179 a0001c0001t0008g0179	1	363	0.0028	33	c.121 others(50): Show c.121-2648_121-2647insACACACACACACACACACACACACACAC ACACA	ACP3	ENSG00000014257.17	transcript	ENST00000336375.10	protein_coding	1/9			chr3	TogoVar
ACP3_chr3_132312407_132363841	132349014	C C	CACACACA others(26): Show CACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0121 a0001c0002t0004g0121	1	360	0.0028	33	c.782 others(48): Show c.782-906_782-905insACACACACACACACACACACACACACACAC ACA	ACP3	ENSG00000014257.17	transcript	ENST00000336375.10	protein_coding	7/9			chr3	TogoVar
ACSBG1_chr15_78162468_78239565	78226793	T T	TATATATA others(26): Show TATATATAATATATATAATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG00639.hp1 others(55): Show HG00280.hp1 HG00597.hp1 HG00639.hp1 HG00642.hp2 HG01070.hp2 HG01074.hp2 HG01109.hp1 HG01257.hp1 HG01261.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01952.hp2 HG01978.hp2 HG02109.hp2 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02273.hp1 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02615.hp2 HG02622.hp1 HG02683.hp1 HG02717.hp2 HG02723.hp1 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03490.hp2 HG03516.hp2 HG03540.hp2 HG06807.hp2 NA18950.hp2 NA18952.hp1 NA18970.hp2 NA18973.hp1 NA18984.hp1 NA18998.hp2 NA19003.hp2 NA19043.hp1 NA19062.hp2 NA19066.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19077.hp2 NA19080.hp1 NA19082.hp1 NA19084.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0006 a0002c0002 others(4): Show a0001c0001 a0001c0006 a0002c0002 a0002c0003 a0002c0005 a0002c0007 a0003c0004	a0001c0001t0001 a0001c0001t0008 a0001c0001t0027 others(8): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0027 a0001c0006t0010 a0002c0002t0001 a0002c0002t0002 a0002c0002t0024 a0002c0003t0001 a0002c0005t0005 a0002c0007t0011 a0003c0004t0003	a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 others(55): Show a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0331 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0344 a0001c0001t0008g0306 a0001c0001t0008g0333 a0001c0001t0027g0117 a0001c0006t0010g0294 a0002c0002t0001g0324 a0002c0002t0001g0325 a0002c0002t0001g0326 a0002c0002t0001g0327 a0002c0002t0001g0328 a0002c0002t0002g0275 a0002c0002t0002g0280 a0002c0002t0002g0284 a0002c0002t0002g0285 a0002c0002t0002g0289 a0002c0002t0002g0303 a0002c0002t0024g0312 a0002c0003t0001g0283 a0002c0003t0001g0297 a0002c0003t0001g0298 a0002c0003t0001g0301 a0002c0003t0001g0341 a0002c0005t0005g0313 a0002c0005t0005g0332 a0002c0007t0011g0323 a0002c0007t0011g0329 a0003c0004t0003g0293 a0003c0004t0003g0308 a0003c0004t0003g0322 a0003c0004t0003g0342	58	221	0.2624	33	c.131 others(50): Show c.131+7577_131+7578insTATATATATATATATATTATATATATTA TATAT	ACSBG1	ENSG00000103740.10	transcript	ENST00000258873.9	protein_coding	1/13			chr15	TogoVar
ACSBG1_chr15_78162468_78239565	78226793	T T	TATATATA others(26): Show TATATATATAATATATATAATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00673.hp1 HG00735.hp1 others(64): Show HG00609.hp1 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01099.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG02004.hp2 HG02015.hp1 HG02056.hp2 HG02083.hp1 HG02129.hp2 HG02135.hp2 HG02155.hp1 HG02273.hp2 HG02895.hp2 HG02897.hp1 HG03209.hp1 HG03490.hp1 HG03492.hp1 HG03654.hp2 HG04184.hp1 HG04228.hp1 NA18612.hp1 NA18747.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18952.hp2 NA18956.hp2 NA18957.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18968.hp2 NA18970.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19001.hp1 NA19001.hp2 NA19004.hp1 NA19007.hp1 NA19010.hp1 NA19057.hp1 NA19060.hp2 NA19064.hp1 NA19066.hp2 NA19082.hp2 NA19083.hp2 NA19088.hp2 NA20752.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0008 a0009	a0001c0001 a0002c0002 a0002c0003 others(5): Show a0001c0001 a0002c0002 a0002c0003 a0002c0019 a0003c0004 a0004c0014 a0008c0022 a0009c0011	a0001c0001t0001 a0001c0001t0013 a0001c0001t0014 others(13): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0028 a0002c0002t0002 a0002c0002t0004 a0002c0002t0025 a0002c0003t0001 a0002c0003t0018 a0002c0003t0035 a0002c0019t0005 a0003c0004t0003 a0004c0014t0003 a0008c0022t0001 a0009c0011t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 others(62): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0121 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0177 a0001c0001t0001g0338 a0001c0001t0013g0139 a0001c0001t0013g0143 a0001c0001t0014g0069 a0001c0001t0014g0070 a0001c0001t0016g0144 a0001c0001t0028g0008 a0002c0002t0002g0113 a0002c0002t0004g0153 a0002c0002t0004g0154 a0002c0002t0025g0133 a0002c0003t0001g0108 a0002c0003t0001g0109 a0002c0003t0001g0120 a0002c0003t0001g0122 a0002c0003t0001g0130 a0002c0003t0001g0132 a0002c0003t0001g0141 a0002c0003t0001g0155 a0002c0003t0001g0165 a0002c0003t0001g0168 a0002c0003t0018g0118 a0002c0003t0035g0131 a0002c0019t0005g0174 a0003c0004t0003g0119 a0003c0004t0003g0126 a0003c0004t0003g0127 a0003c0004t0003g0128 a0003c0004t0003g0129 a0003c0004t0003g0148 a0003c0004t0003g0166 a0004c0014t0003g0134 a0008c0022t0001g0105 a0009c0011t0001g0007	67	230	0.2913	33	c.131 others(50): Show c.131+7577_131+7578insTATATATATATATATTATATATATTATA TATAT	ACSBG1	ENSG00000103740.10	transcript	ENST00000258873.9	protein_coding	1/13			chr15	TogoVar
ACSL5_chr10_112369116_112433376	112423221	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02630.hp1 HG03209.hp1 others(6): Show HG00140.hp2 HG02630.hp1 HG03209.hp1 HG03239.hp1 HG03834.hp2 NA18968.hp1 NA18983.hp1 NA18994.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0012 a0001c0001t0001g0176 a0001c0001t0001g0181 others(6): Show a0001c0001t0001g0012 a0001c0001t0001g0176 a0001c0001t0001g0181 a0001c0001t0001g0194 a0001c0001t0001g0208 a0001c0001t0001g0225 a0001c0001t0001g0254 a0001c0001t0001g0276 a0001c0001t0002g0269	9	35	0.2571	33	c.159 others(50): Show c.1593+780_1593+781insTATATATATATATATATATATATATATA TATAT	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20			chr10	TogoVar
ACSM2B_chr16_20531226_20581367	20566645	C C	CTATATAT others(26): Show CTATATATACTATATATATACTATATATACTATA	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	138	0.0072	33	c.-8- others(48): Show c.-8-1793_-8-1792insTATAGTATATATAGTATATATATAGTATAT ATA	ACSM2B	ENSG00000066813.14	transcript	ENST00000329697.10	protein_coding	1/13			chr16	TogoVar
ACSS3_chr12_81073079_81266210	81213840	T T	TCTCTTCT others(26): Show TCTCTTCTCTTCTCTCTCTCTCTTCTCTCCTCTC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0153 a0002c0003t0005g0153	1	139	0.0072	33	c.135 others(52): Show c.1355-3057_1355-3056insTCTCTTCTCTCTCTCTCTTCTCTCCT CTCCTCT	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACTA2_chr10_88930074_88957773	88932031	G G	GGATGATG others(26): Show GGATGATGATGATGATGATGATGATGATGATGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02735.hp1 HG02895.hp1 others(7): Show HG02717.hp1 HG02735.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG03486.hp1 HG03516.hp1 HG04184.hp2 NA19043.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0101 a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0101	10	396	0.0253	33	c.31 others(44): Show c.3191_*3192insATCATCATCATCATCATCATCATCATCATCATC	ACTA2	ENSG00000107796.13	transcript	ENST00000224784.10	protein_coding		3042		chr10	TogoVar
ACTA2_chr10_88930074_88957773	88932032	G G	GATGATGA others(26): Show GATGATGATGATGATGATGATGATGATTATTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	158	0.0063	33	c.31 others(44): Show c.3190_*3191insAATAATAATCATCATCATCATCATCATCATCAT	ACTA2	ENSG00000107796.13	transcript	ENST00000224784.10	protein_coding		3041		chr10	TogoVar
ACTN2_chr1_236681499_236769631	236721015	G G	GGTTTTTT others(26): Show GGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01255.hp1 HG00140.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0323 a0001c0001t0001g0327 a0001c0001t0001g0323 a0001c0001t0001g0327	2	133	0.0150	33	c.448 others(48): Show c.448+824_448+825insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	4/20			chr1	TogoVar
ACTR2_chr2_65222831_65276253	65267862	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0217 a0001c0001t0006g0217	1	19	0.0526	33	c.101 others(50): Show c.1015-674_1015-673insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	ACTR2	ENSG00000138071.15	transcript	ENST00000260641.10	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTRT3_chr3_169761921_169774561	169771429	T T	TTATGTTT others(26): Show TTATGTTTATATATAATAAATATATAAAAATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG02027.hp1 HG02129.hp1 others(6): Show HG01081.hp1 HG02027.hp1 HG02129.hp1 NA18952.hp2 NA18984.hp2 NA18986.hp1 NA19005.hp1 NA19063.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	9	192	0.0469	33	c.-19 others(44): Show c.-1910_-1909insTAAATTTTTATATATTTATTATATATAAACATA	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1869		chr3	TogoVar
ACVR2A_chr2_147840029_147935822	147844400	G G	GGCCGCCG others(26): Show GGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0098 a0001c0002t0001g0098	1	312	0.0032	33	c.-75 others(42): Show c.-753_-752insGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding		628		chr2	TogoVar
ACVR2A_chr2_147840029_147935822	147844409	T T	TGCCGCCG others(26): Show TGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG02895.hp1 HG02071.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0001 a0001c0001t0006 a0001c0002t0001	a0001c0001t0006g0283 a0001c0002t0001g0171 a0001c0001t0006g0283 a0001c0002t0001g0171	2	141	0.0142	33	c.-74 others(42): Show c.-744_-743insGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding		619		chr2	TogoVar

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