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	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	chr	external
ABCA7_chr19_1035107_1070572	1061805	T T	C C	synonymous_variant synonymous_variant	LOW	NA20905.hp2 NA20905.hp2	a0019 a0019	a0019c0013 a0019c0013	a0019c0013t0002 a0019c0013t0002	a0019c0013t0002g0030 a0019c0013t0002g0030	1	28	0.0357	c.548 others(4): Show c.5487T>C	p.Asn others(7): Show p.Asn1829Asn	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	41/47	5714/6815	5487/6441	1829/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1061874	G G	A A	synonymous_variant synonymous_variant	LOW	HG03688.hp1 HG03688.hp1	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0001 a0012c0018t0001	a0012c0018t0001g0028 a0012c0018t0001g0028	1	28	0.0357	c.555 others(4): Show c.5556G>A	p.Val others(7): Show p.Val1852Val	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	41/47	5783/6815	5556/6441	1852/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1062193	T T	C C	synonymous_variant synonymous_variant	LOW	NA18983.hp2 NA19066.hp1 NA18983.hp2 NA19066.hp1	a0016 a0017 a0016 a0017	a0016c0006 a0017c0014 a0016c0006 a0017c0014	a0016c0006t0002 a0017c0014t0002 a0016c0006t0002 a0017c0014t0002	a0016c0006t0002g0006 a0017c0014t0002g0025 a0016c0006t0002g0006 a0017c0014t0002g0025	2	28	0.0714	c.559 others(4): Show c.5592T>C	p.Ala others(7): Show p.Ala1864Ala	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	42/47	5819/6815	5592/6441	1864/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1064194	G G	A A	synonymous_variant synonymous_variant	LOW	HG00673.hp1 HG01071.hp2 HG02071.hp1 others(11): Show HG00673.hp1 HG01071.hp2 HG02071.hp1 HG02145.hp1 HG02451.hp1 HG02451.hp2 HG02723.hp1 HG03688.hp1 HG03688.hp2 NA18970.hp1 NA18983.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1	a0002 a0003 a0005 others(8): Show a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0012 a0013 a0014 a0015	a0002c0003 a0002c0009 a0003c0004 others(9): Show a0002c0003 a0002c0009 a0003c0004 a0005c0017 a0006c0019 a0007c0021 a0008c0022 a0009c0010 a0012c0018 a0013c0012 a0014c0015 a0015c0016	a0002c0003t0001 a0002c0009t0001 a0003c0004t0001 others(9): Show a0002c0003t0001 a0002c0009t0001 a0003c0004t0001 a0005c0017t0001 a0006c0019t0002 a0007c0021t0001 a0008c0022t0001 a0009c0010t0001 a0012c0018t0001 a0013c0012t0001 a0014c0015t0001 a0015c0016t0001	a0002c0003t0001g0007 a0002c0003t0001g0009 a0002c0009t0001g0008 others(11): Show a0002c0003t0001g0007 a0002c0003t0001g0009 a0002c0009t0001g0008 a0003c0004t0001g0021 a0003c0004t0001g0023 a0005c0017t0001g0027 a0006c0019t0002g0029 a0007c0021t0001g0001 a0008c0022t0001g0004 a0009c0010t0001g0013 a0012c0018t0001g0028 a0013c0012t0001g0026 a0014c0015t0001g0022 a0015c0016t0001g0024	14	28	0.5000	c.598 others(4): Show c.5985G>A	p.Leu others(7): Show p.Leu1995Leu	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	45/47	6212/6815	5985/6441	1995/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1065045	C C	T T	synonymous_variant synonymous_variant	LOW	HG01071.hp2 HG03688.hp1 HG03688.hp2 HG01071.hp2 HG03688.hp1 HG03688.hp2	a0005 a0012 a0013 a0005 a0012 a0013	a0005c0017 a0012c0018 a0013c0012 a0005c0017 a0012c0018 a0013c0012	a0005c0017t0001 a0012c0018t0001 a0013c0012t0001 a0005c0017t0001 a0012c0018t0001 a0013c0012t0001	a0005c0017t0001g0027 a0012c0018t0001g0028 a0013c0012t0001g0026 a0005c0017t0001g0027 a0012c0018t0001g0028 a0013c0012t0001g0026	3	28	0.1071	c.615 others(4): Show c.6159C>T	p.Gly others(7): Show p.Gly2053Gly	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	46/47	6386/6815	6159/6441	2053/2146	chr19	TogoVar
ABCA8_chr17_68862289_68960392	68875346	C C	T T	synonymous_variant synonymous_variant	LOW	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0048 a0001c0048	a0001c0048t0001 a0001c0048t0001	a0001c0048t0001g0166 a0001c0048t0001g0166	1	272	0.0037	c.454 others(4): Show c.4545G>A	p.Leu others(7): Show p.Leu1515Leu	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	37/40	4885/6002	4545/4866	1515/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68876661	G G	C C	synonymous_variant synonymous_variant	LOW	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(224): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00733.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02738.hp2 HG02809.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03831.hp1 HG03831.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(24): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0011 a0012 a0014 a0015 a0016 a0017 a0018 a0019 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0031 a0032	a0001c0001 a0001c0003 a0001c0004 others(39): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0017 a0001c0023 a0001c0035 a0001c0044 a0001c0048 a0001c0050 a0002c0006 a0002c0022 a0002c0034 a0002c0046 a0002c0053 a0003c0029 a0004c0007 a0005c0009 a0006c0014 a0006c0038 a0008c0025 a0008c0032 a0009c0010 a0010c0012 a0011c0013 a0012c0054 a0014c0027 a0015c0030 a0016c0015 a0017c0055 a0018c0057 a0019c0028 a0022c0051 a0023c0020 a0024c0016 a0025c0036 a0026c0018 a0027c0047 a0028c0037 a0029c0043 a0031c0041 a0032c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(43): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0004t0001 a0001c0005t0001 a0001c0017t0001 a0001c0023t0001 a0001c0035t0001 a0001c0044t0001 a0001c0048t0001 a0001c0050t0001 a0002c0006t0001 a0002c0022t0001 a0002c0034t0001 a0002c0046t0001 a0002c0053t0001 a0003c0029t0001 a0004c0007t0001 a0005c0009t0001 a0006c0014t0001 a0006c0038t0001 a0008c0025t0001 a0008c0032t0005 a0009c0010t0001 a0010c0012t0001 a0011c0013t0001 a0012c0054t0001 a0014c0027t0001 a0015c0030t0001 a0016c0015t0001 a0017c0055t0001 a0018c0057t0004 a0019c0028t0001 a0022c0051t0004 a0023c0020t0001 a0024c0016t0001 a0025c0036t0001 a0026c0018t0001 a0027c0047t0001 a0028c0037t0001 a0029c0043t0001 a0031c0041t0001 a0032c0021t0001	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0010 others(222): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0128 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0185 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0002g0041 a0001c0001t0002g0045 a0001c0001t0002g0222 a0001c0001t0002g0254 a0001c0001t0007g0264 a0001c0003t0001g0056 a0001c0003t0001g0057 a0001c0003t0001g0059 a0001c0003t0001g0060 a0001c0003t0001g0062 a0001c0003t0001g0064 a0001c0003t0001g0065 a0001c0003t0001g0066 a0001c0003t0001g0067 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0074 a0001c0003t0001g0076 a0001c0003t0001g0086 a0001c0003t0001g0088 a0001c0003t0001g0102 a0001c0003t0002g0087 a0001c0003t0002g0101 a0001c0003t0003g0098 a0001c0003t0003g0100 a0001c0004t0001g0003 a0001c0004t0001g0033 a0001c0004t0001g0038 a0001c0004t0001g0049 a0001c0004t0001g0123 a0001c0004t0001g0127 a0001c0004t0001g0180 a0001c0004t0001g0186 a0001c0004t0001g0187 a0001c0004t0001g0189 a0001c0004t0001g0194 a0001c0004t0001g0195 a0001c0004t0001g0205 a0001c0004t0001g0209 a0001c0004t0001g0218 a0001c0004t0001g0240 a0001c0004t0001g0245 a0001c0005t0001g0137 a0001c0005t0001g0138 a0001c0005t0001g0139 a0001c0005t0001g0141 a0001c0005t0001g0142 a0001c0005t0001g0143 a0001c0005t0001g0145 a0001c0005t0001g0147 a0001c0005t0001g0148 a0001c0005t0001g0149 a0001c0005t0001g0150 a0001c0017t0001g0016 a0001c0023t0001g0268 a0001c0035t0001g0075 a0001c0044t0001g0212 a0001c0048t0001g0166 a0001c0050t0001g0193 a0002c0006t0001g0001 a0002c0006t0001g0095 a0002c0006t0001g0160 a0002c0006t0001g0164 a0002c0006t0001g0165 a0002c0006t0001g0201 a0002c0006t0001g0202 a0002c0006t0001g0237 a0002c0022t0001g0135 a0002c0034t0001g0007 a0002c0046t0001g0052 a0002c0053t0001g0050 a0003c0029t0001g0106 a0004c0007t0001g0058 a0004c0007t0001g0162 a0004c0007t0001g0188 a0004c0007t0001g0247 a0004c0007t0001g0257 a0004c0007t0001g0263 a0004c0007t0001g0265 a0004c0007t0001g0266 a0005c0009t0001g0002 a0005c0009t0001g0105 a0005c0009t0001g0109 a0005c0009t0001g0111 a0005c0009t0001g0115 a0006c0014t0001g0055 a0006c0014t0001g0085 a0006c0038t0001g0099 a0008c0025t0001g0103 a0008c0032t0005g0097 a0009c0010t0001g0122 a0009c0010t0001g0131 a0009c0010t0001g0132 a0010c0012t0001g0019 a0010c0012t0001g0020 a0011c0013t0001g0039 a0011c0013t0001g0093 a0012c0054t0001g0225 a0014c0027t0001g0107 a0015c0030t0001g0104 a0016c0015t0001g0013 a0017c0055t0001g0130 a0018c0057t0004g0133 a0019c0028t0001g0112 a0022c0051t0004g0121 a0023c0020t0001g0144 a0024c0016t0001g0063 a0025c0036t0001g0157 a0026c0018t0001g0234 a0027c0047t0001g0011 a0028c0037t0001g0158 a0029c0043t0001g0261 a0031c0041t0001g0009 a0032c0021t0001g0140	227	272	0.8346	c.424 others(4): Show c.4242C>G	p.Pro others(7): Show p.Pro1414Pro	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	34/40	4582/6002	4242/4866	1414/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68877602	G G	A A	synonymous_variant synonymous_variant	LOW	HG00280.hp1 HG00438.hp2 HG00733.hp1 others(42): Show HG00280.hp1 HG00438.hp2 HG00733.hp1 HG01069.hp1 HG01071.hp2 HG01106.hp1 HG01258.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG02040.hp2 HG02071.hp2 HG02109.hp1 HG02135.hp2 HG02165.hp1 HG02258.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02698.hp1 HG02809.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp1 HG03225.hp2 HG03579.hp2 HG03831.hp1 NA18960.hp2 NA18968.hp1 NA18980.hp1 NA18991.hp1 NA19010.hp2 NA19030.hp1 NA19081.hp2 NA19083.hp2 NA19240.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0005 others(7): Show a0001 a0002 a0005 a0008 a0016 a0017 a0018 a0022 a0026 a0029	a0001c0004 a0001c0023 a0001c0035 others(13): Show a0001c0004 a0001c0023 a0001c0035 a0001c0048 a0002c0006 a0002c0022 a0002c0034 a0002c0053 a0005c0009 a0008c0032 a0016c0015 a0017c0055 a0018c0057 a0022c0051 a0026c0018 a0029c0043	a0001c0004t0001 a0001c0023t0001 a0001c0035t0001 others(13): Show a0001c0004t0001 a0001c0023t0001 a0001c0035t0001 a0001c0048t0001 a0002c0006t0001 a0002c0022t0001 a0002c0034t0001 a0002c0053t0001 a0005c0009t0001 a0008c0032t0005 a0016c0015t0001 a0017c0055t0001 a0018c0057t0004 a0022c0051t0004 a0026c0018t0001 a0029c0043t0001	a0001c0004t0001g0003 a0001c0004t0001g0033 a0001c0004t0001g0038 others(40): Show a0001c0004t0001g0003 a0001c0004t0001g0033 a0001c0004t0001g0038 a0001c0004t0001g0049 a0001c0004t0001g0123 a0001c0004t0001g0127 a0001c0004t0001g0180 a0001c0004t0001g0186 a0001c0004t0001g0187 a0001c0004t0001g0189 a0001c0004t0001g0194 a0001c0004t0001g0195 a0001c0004t0001g0205 a0001c0004t0001g0209 a0001c0004t0001g0218 a0001c0004t0001g0240 a0001c0004t0001g0245 a0001c0023t0001g0268 a0001c0035t0001g0075 a0001c0048t0001g0166 a0002c0006t0001g0001 a0002c0006t0001g0095 a0002c0006t0001g0160 a0002c0006t0001g0164 a0002c0006t0001g0165 a0002c0006t0001g0201 a0002c0006t0001g0202 a0002c0006t0001g0237 a0002c0022t0001g0135 a0002c0034t0001g0007 a0002c0053t0001g0050 a0005c0009t0001g0002 a0005c0009t0001g0105 a0005c0009t0001g0109 a0005c0009t0001g0111 a0005c0009t0001g0115 a0008c0032t0005g0097 a0016c0015t0001g0013 a0017c0055t0001g0130 a0018c0057t0004g0133 a0022c0051t0004g0121 a0026c0018t0001g0234 a0029c0043t0001g0261	45	272	0.1654	c.411 others(4): Show c.4116C>T	p.Pro others(7): Show p.Pro1372Pro	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	33/40	4456/6002	4116/4866	1372/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68891534	C C	T T	synonymous_variant synonymous_variant	LOW	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0044 a0001c0044	a0001c0044t0001 a0001c0044t0001	a0001c0044t0001g0212 a0001c0044t0001g0212	1	272	0.0037	c.309 others(4): Show c.3099G>A	p.Ser others(7): Show p.Ser1033Ser	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	24/40	3439/6002	3099/4866	1033/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68903360	G G	A A	synonymous_variant synonymous_variant	LOW	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0050 a0001c0050	a0001c0050t0001 a0001c0050t0001	a0001c0050t0001g0193 a0001c0050t0001g0193	1	272	0.0037	c.253 others(4): Show c.2538C>T	p.Cys others(6): Show p.Cys846Cys	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	20/40	2878/6002	2538/4866	846/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68907816	A A	C C	synonymous_variant synonymous_variant	LOW	HG02818.hp2 HG03041.hp2 HG02818.hp2 HG03041.hp2	a0001 a0003 a0001 a0003	a0001c0042 a0003c0026 a0001c0042 a0003c0026	a0001c0042t0001 a0003c0026t0001 a0001c0042t0001 a0003c0026t0001	a0001c0042t0001g0129 a0003c0026t0001g0114 a0001c0042t0001g0129 a0003c0026t0001g0114	2	272	0.0074	c.220 others(4): Show c.2202T>G	p.Pro others(6): Show p.Pro734Pro	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	18/40	2542/6002	2202/4866	734/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68917420	T T	C C	synonymous_variant synonymous_variant	LOW	HG03516.hp1 HG03516.hp1	a0007 a0007	a0007c0040 a0007c0040	a0007c0040t0001 a0007c0040t0001	a0007c0040t0001g0120 a0007c0040t0001g0120	1	272	0.0037	c.207 others(4): Show c.2079A>G	p.Leu others(6): Show p.Leu693Leu	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	17/40	2419/6002	2079/4866	693/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68919463	G G	A A	synonymous_variant synonymous_variant	LOW	HG00140.hp1 HG00140.hp1	a0012 a0012	a0012c0054 a0012c0054	a0012c0054t0001 a0012c0054t0001	a0012c0054t0001g0225 a0012c0054t0001g0225	1	272	0.0037	c.162 others(4): Show c.1626C>T	p.Ile others(6): Show p.Ile542Ile	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	14/40	1966/6002	1626/4866	542/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68929187	G G	A A	synonymous_variant synonymous_variant	LOW	NA18960.hp2 NA18960.hp2	a0002 a0002	a0002c0053 a0002c0053	a0002c0053t0001 a0002c0053t0001	a0002c0053t0001g0050 a0002c0053t0001g0050	1	272	0.0037	c.987 others(3): Show c.987C>T	p.Leu others(6): Show p.Leu329Leu	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	9/40	1327/6002	987/4866	329/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68929699	G G	C C	synonymous_variant synonymous_variant	LOW	HG02970.hp1 HG03130.hp1 HG02970.hp1 HG03130.hp1	a0008 a0008	a0008c0031 a0008c0032 a0008c0031 a0008c0032	a0008c0031t0001 a0008c0032t0005 a0008c0031t0001 a0008c0032t0005	a0008c0031t0001g0096 a0008c0032t0005g0097 a0008c0031t0001g0096 a0008c0032t0005g0097	2	272	0.0074	c.801 others(3): Show c.801C>G	p.Leu others(6): Show p.Leu267Leu	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	8/40	1141/6002	801/4866	267/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68932293	C C	T T	synonymous_variant synonymous_variant	LOW	HG01496.hp1 HG02071.hp2 HG02129.hp2 others(28): Show HG01496.hp1 HG02071.hp2 HG02129.hp2 HG02523.hp1 NA18747.hp1 NA18941.hp1 NA18942.hp2 NA18946.hp2 NA18951.hp2 NA18953.hp1 NA18957.hp1 NA18960.hp1 NA18962.hp1 NA18968.hp2 NA18973.hp2 NA18975.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18987.hp2 NA18994.hp2 NA18999.hp2 NA19000.hp2 NA19001.hp2 NA19003.hp1 NA19004.hp1 NA19063.hp1 NA19083.hp1 NA19083.hp2 NA20805.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0006 a0024 a0025 a0028	a0001c0003 a0001c0035 a0002c0034 others(5): Show a0001c0003 a0001c0035 a0002c0034 a0004c0033 a0006c0038 a0024c0016 a0025c0036 a0028c0037	a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 others(7): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0035t0001 a0002c0034t0001 a0004c0033t0001 a0006c0038t0001 a0024c0016t0001 a0025c0036t0001 a0028c0037t0001	a0001c0003t0001g0056 a0001c0003t0001g0057 a0001c0003t0001g0059 others(28): Show a0001c0003t0001g0056 a0001c0003t0001g0057 a0001c0003t0001g0059 a0001c0003t0001g0060 a0001c0003t0001g0062 a0001c0003t0001g0064 a0001c0003t0001g0065 a0001c0003t0001g0066 a0001c0003t0001g0067 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0074 a0001c0003t0001g0076 a0001c0003t0001g0086 a0001c0003t0001g0088 a0001c0003t0001g0102 a0001c0003t0002g0087 a0001c0003t0002g0101 a0001c0003t0003g0098 a0001c0003t0003g0100 a0001c0035t0001g0075 a0002c0034t0001g0007 a0004c0033t0001g0061 a0006c0038t0001g0099 a0024c0016t0001g0063 a0025c0036t0001g0157 a0028c0037t0001g0158	31	272	0.1140	c.792 others(3): Show c.792G>A	p.Ala others(6): Show p.Ala264Ala	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	7/40	1132/6002	792/4866	264/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68932329	C C	T T	synonymous_variant synonymous_variant	LOW	HG01346.hp1 HG01884.hp1 HG02055.hp1 others(18): Show HG01346.hp1 HG01884.hp1 HG02055.hp1 HG02145.hp2 HG02258.hp1 HG02451.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02809.hp2 HG02818.hp2 HG02970.hp1 HG03041.hp1 HG03130.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03579.hp2 HG06807.hp2 NA18522.hp1	a0003 a0005 a0008 others(3): Show a0003 a0005 a0008 a0014 a0015 a0019	a0003c0008 a0003c0026 a0003c0029 others(7): Show a0003c0008 a0003c0026 a0003c0029 a0005c0009 a0008c0025 a0008c0031 a0008c0032 a0014c0027 a0015c0030 a0019c0028	a0003c0008t0001 a0003c0008t0005 a0003c0026t0001 others(8): Show a0003c0008t0001 a0003c0008t0005 a0003c0026t0001 a0003c0029t0001 a0005c0009t0001 a0008c0025t0001 a0008c0031t0001 a0008c0032t0005 a0014c0027t0001 a0015c0030t0001 a0019c0028t0001	a0003c0008t0001g0108 a0003c0008t0001g0110 a0003c0008t0001g0113 others(17): Show a0003c0008t0001g0108 a0003c0008t0001g0110 a0003c0008t0001g0113 a0003c0008t0001g0124 a0003c0008t0001g0125 a0003c0008t0001g0151 a0003c0008t0005g0152 a0003c0026t0001g0114 a0003c0029t0001g0106 a0005c0009t0001g0002 a0005c0009t0001g0105 a0005c0009t0001g0109 a0005c0009t0001g0111 a0005c0009t0001g0115 a0008c0025t0001g0103 a0008c0031t0001g0096 a0008c0032t0005g0097 a0014c0027t0001g0107 a0015c0030t0001g0104 a0019c0028t0001g0112	21	272	0.0772	c.756 others(3): Show c.756G>A	p.Lys others(6): Show p.Lys252Lys	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	7/40	1096/6002	756/4866	252/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68932404	A A	G G	synonymous_variant synonymous_variant	LOW	HG00733.hp2 HG01884.hp2 HG02559.hp1 others(15): Show HG00733.hp2 HG01884.hp2 HG02559.hp1 HG02717.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02976.hp1 HG03130.hp2 HG03209.hp1 HG03490.hp2 HG03540.hp1 HG03831.hp2 NA18906.hp1 NA18906.hp2 NA19240.hp1 NA20129.hp2	a0001 a0002 a0007 others(2): Show a0001 a0002 a0007 a0023 a0032	a0001c0005 a0001c0011 a0001c0023 others(4): Show a0001c0005 a0001c0011 a0001c0023 a0002c0022 a0007c0019 a0023c0020 a0032c0021	a0001c0005t0001 a0001c0011t0001 a0001c0023t0001 others(4): Show a0001c0005t0001 a0001c0011t0001 a0001c0023t0001 a0002c0022t0001 a0007c0019t0001 a0023c0020t0001 a0032c0021t0001	a0001c0005t0001g0137 a0001c0005t0001g0138 a0001c0005t0001g0139 others(15): Show a0001c0005t0001g0137 a0001c0005t0001g0138 a0001c0005t0001g0139 a0001c0005t0001g0141 a0001c0005t0001g0142 a0001c0005t0001g0143 a0001c0005t0001g0145 a0001c0005t0001g0147 a0001c0005t0001g0148 a0001c0005t0001g0149 a0001c0005t0001g0150 a0001c0011t0001g0136 a0001c0011t0001g0146 a0001c0023t0001g0268 a0002c0022t0001g0135 a0007c0019t0001g0155 a0023c0020t0001g0144 a0032c0021t0001g0140	18	272	0.0662	c.681 others(3): Show c.681T>C	p.Phe others(6): Show p.Phe227Phe	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	7/40	1021/6002	681/4866	227/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68940804	C C	T T	synonymous_variant synonymous_variant	LOW	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0016 a0001c0017t0001g0016	1	272	0.0037	c.255 others(3): Show c.255G>A	p.Thr others(5): Show p.Thr85Thr	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	4/40	595/6002	255/4866	85/1621	chr17	TogoVar
ABCA9_chr17_68969488_69065927	68985116	C C	A A	synonymous_variant synonymous_variant	LOW	HG02451.hp1 HG03516.hp1 HG02451.hp1 HG03516.hp1	a0013 a0018 a0013 a0018	a0013c0022 a0018c0019 a0013c0022 a0018c0019	a0013c0022t0003 a0018c0019t0003 a0013c0022t0003 a0018c0019t0003	a0013c0022t0003g0019 a0018c0019t0003g0056 a0013c0022t0003g0019 a0018c0019t0003g0056	2	310	0.0065	c.422 others(4): Show c.4221G>T	p.Ala others(7): Show p.Ala1407Ala	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	33/39	4296/6377	4221/4875	1407/1624	chr17	TogoVar
ABCA9_chr17_68969488_69065927	68986286	G G	A A	synonymous_variant synonymous_variant	LOW	HG03490.hp2 HG03490.hp2	a0002 a0002	a0002c0028 a0002c0028	a0002c0028t0002 a0002c0028t0002	a0002c0028t0002g0079 a0002c0028t0002g0079	1	310	0.0032	c.408 others(4): Show c.4086C>T	p.Gly others(7): Show p.Gly1362Gly	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	32/39	4161/6377	4086/4875	1362/1624	chr17	TogoVar
ABCA9_chr17_68969488_69065927	68989101	A A	G G	synonymous_variant synonymous_variant	LOW	HG03516.hp2 HG03516.hp2	a0019 a0019	a0019c0023 a0019c0023	a0019c0023t0003 a0019c0023t0003	a0019c0023t0003g0018 a0019c0023t0003g0018	1	310	0.0032	c.397 others(4): Show c.3973T>C	p.Leu others(7): Show p.Leu1325Leu	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	31/39	4048/6377	3973/4875	1325/1624	chr17	TogoVar
ABCA9_chr17_68969488_69065927	69007825	A A	G G	synonymous_variant synonymous_variant	LOW	HG01516.hp2 HG01516.hp2	a0002 a0002	a0002c0027 a0002c0027	a0002c0027t0002 a0002c0027t0002	a0002c0027t0002g0069 a0002c0027t0002g0069	1	310	0.0032	c.336 others(4): Show c.3369T>C	p.Tyr others(7): Show p.Tyr1123Tyr	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	25/39	3444/6377	3369/4875	1123/1624	chr17	TogoVar
ABCA9_chr17_68969488_69065927	69007870	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0001 a0001c0029t0001	a0001c0029t0001g0195 a0001c0029t0001g0195	1	310	0.0032	c.332 others(4): Show c.3324C>T	p.Ile others(7): Show p.Ile1108Ile	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	25/39	3399/6377	3324/4875	1108/1624	chr17	TogoVar
ABCA9_chr17_68969488_69065927	69017776	A A	G G	synonymous_variant synonymous_variant	LOW	NA19002.hp1 NA19002.hp1	a0002 a0002	a0002c0026 a0002c0026	a0002c0026t0002 a0002c0026t0002	a0002c0026t0002g0071 a0002c0026t0002g0071	1	310	0.0032	c.278 others(4): Show c.2781T>C	p.Asp others(6): Show p.Asp927Asp	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	21/39	2856/6377	2781/4875	927/1624	chr17	TogoVar
ABCA9_chr17_68969488_69065927	69018501	C C	T T	synonymous_variant synonymous_variant	LOW	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0003 a0001c0021t0003	a0001c0021t0003g0020 a0001c0021t0003g0020	1	310	0.0032	c.267 others(4): Show c.2679G>A	p.Pro others(6): Show p.Pro893Pro	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	20/39	2754/6377	2679/4875	893/1624	chr17	TogoVar
ABCA9_chr17_68969488_69065927	69020504	G G	A A	synonymous_variant synonymous_variant	LOW	HG03098.hp1 HG03098.hp1	a0008 a0008	a0008c0020 a0008c0020	a0008c0020t0003 a0008c0020t0003	a0008c0020t0003g0055 a0008c0020t0003g0055	1	310	0.0032	c.248 others(4): Show c.2484C>T	p.Ser others(6): Show p.Ser828Ser	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	19/39	2559/6377	2484/4875	828/1624	chr17	TogoVar
ABCA9_chr17_68969488_69065927	69032119	T T	C C	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(106): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG02004.hp1 HG02040.hp2 HG02080.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02602.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02886.hp2 HG02970.hp2 HG03130.hp2 HG03139.hp2 HG03490.hp2 HG03491.hp2 HG03540.hp1 HG03654.hp2 HG03704.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18747.hp1 NA18939.hp1 NA18946.hp2 NA18949.hp1 NA18953.hp2 NA18954.hp1 NA18965.hp2 NA18968.hp2 NA18971.hp2 NA18980.hp1 NA18985.hp2 NA18986.hp2 NA18990.hp1 NA18992.hp1 NA18993.hp2 NA19002.hp1 NA19004.hp1 NA19009.hp2 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19054.hp2 NA19056.hp1 NA19058.hp2 NA19060.hp1 NA19065.hp1 NA19070.hp2 NA19074.hp2 NA19075.hp2 NA19080.hp1 NA19082.hp1 NA19085.hp1 NA19086.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA21309.hp2	a0001 a0002 a0007 others(4): Show a0001 a0002 a0007 a0012 a0015 a0020 a0022	a0001c0007 a0001c0029 a0002c0002 others(8): Show a0001c0007 a0001c0029 a0002c0002 a0002c0026 a0002c0027 a0002c0028 a0007c0010 a0012c0016 a0015c0024 a0020c0030 a0022c0025	a0001c0007t0001 a0001c0007t0004 a0001c0029t0001 others(10): Show a0001c0007t0001 a0001c0007t0004 a0001c0029t0001 a0002c0002t0002 a0002c0002t0007 a0002c0026t0002 a0002c0027t0002 a0002c0028t0002 a0007c0010t0002 a0012c0016t0002 a0015c0024t0002 a0020c0030t0002 a0022c0025t0002	a0001c0007t0001g0012 a0001c0007t0001g0088 a0001c0007t0001g0113 others(97): Show a0001c0007t0001g0012 a0001c0007t0001g0088 a0001c0007t0001g0113 a0001c0007t0001g0115 a0001c0007t0001g0137 a0001c0007t0001g0156 a0001c0007t0001g0206 a0001c0007t0001g0220 a0001c0007t0001g0236 a0001c0007t0004g0091 a0001c0029t0001g0195 a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0016 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0070 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0080 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0114 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0136 a0002c0002t0002g0138 a0002c0002t0002g0139 a0002c0002t0002g0142 a0002c0002t0002g0143 a0002c0002t0002g0145 a0002c0002t0002g0146 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0155 a0002c0002t0002g0219 a0002c0002t0002g0228 a0002c0002t0002g0255 a0002c0002t0007g0128 a0002c0002t0007g0129 a0002c0026t0002g0071 a0002c0027t0002g0069 a0002c0028t0002g0079 a0007c0010t0002g0081 a0007c0010t0002g0118 a0007c0010t0002g0140 a0007c0010t0002g0141 a0007c0010t0002g0150 a0012c0016t0002g0053 a0015c0024t0002g0063 a0020c0030t0002g0200 a0022c0025t0002g0059	109	310	0.3516	c.143 others(4): Show c.1434A>G	p.Lys others(6): Show p.Lys478Lys	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	10/39	1509/6377	1434/4875	478/1624	chr17	TogoVar
ABCA9_chr17_68969488_69065927	69035741	A A	G G	synonymous_variant synonymous_variant	LOW	HG02572.hp2 HG02647.hp1 HG02717.hp1 others(6): Show HG02572.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp2 HG02922.hp1 HG03195.hp1 HG03209.hp1 NA20129.hp1	a0001 a0016 a0001 a0016	a0001c0008 a0016c0017 a0001c0008 a0016c0017	a0001c0008t0001 a0016c0017t0003 a0001c0008t0001 a0016c0017t0003	a0001c0008t0001g0162 a0001c0008t0001g0176 a0001c0008t0001g0185 others(6): Show a0001c0008t0001g0162 a0001c0008t0001g0176 a0001c0008t0001g0185 a0001c0008t0001g0186 a0001c0008t0001g0187 a0001c0008t0001g0188 a0001c0008t0001g0191 a0001c0008t0001g0258 a0016c0017t0003g0184	9	310	0.0290	c.861 others(3): Show c.861T>C	p.Leu others(6): Show p.Leu287Leu	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	7/39	936/6377	861/4875	287/1624	chr17	TogoVar
ABCB10_chr1_229511582_229563707	229518858	G G	C C	synonymous_variant synonymous_variant	LOW	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0003 a0002c0009t0003	a0002c0009t0003g0029 a0002c0009t0003g0029	1	282	0.0035	c.196 others(4): Show c.1968C>G	p.Leu others(6): Show p.Leu656Leu	ABCB10	ENSG00000135776.5	transcript	ENST00000344517.5	protein_coding	12/13	2023/3869	1968/2217	656/738	chr1	TogoVar
ABCB10_chr1_229511582_229563707	229530290	C C	T T	synonymous_variant synonymous_variant	LOW	HG01099.hp2 HG01099.hp2	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0001 a0008c0014t0001	a0008c0014t0001g0271 a0008c0014t0001g0271	1	282	0.0035	c.155 others(4): Show c.1554G>A	p.Pro others(6): Show p.Pro518Pro	ABCB10	ENSG00000135776.5	transcript	ENST00000344517.5	protein_coding	8/13	1609/3869	1554/2217	518/738	chr1	TogoVar
ABCB10_chr1_229511582_229563707	229547517	G G	A A	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG00140.hp1 HG00438.hp1 others(108): Show HG00099.hp2 HG00140.hp1 HG00438.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01243.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02132.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03710.hp2 HG03942.hp1 HG04199.hp1 HG04204.hp1 HG06807.hp1 NA18747.hp1 NA18906.hp2 NA18952.hp2 NA18954.hp1 NA18967.hp2 NA18968.hp1 NA18977.hp2 NA18980.hp2 NA18989.hp1 NA18991.hp1 NA18998.hp1 NA19030.hp1 NA19043.hp2 NA19054.hp2 NA19060.hp1 NA19079.hp1 NA19082.hp1 NA19085.hp2 NA19087.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0007	a0001c0002 a0001c0012 a0001c0016 others(7): Show a0001c0002 a0001c0012 a0001c0016 a0002c0003 a0002c0009 a0002c0010 a0003c0013 a0004c0005 a0006c0007 a0007c0008	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(12): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0008 a0001c0012t0001 a0001c0016t0001 a0002c0003t0003 a0002c0003t0007 a0002c0009t0003 a0002c0010t0009 a0003c0013t0002 a0004c0005t0005 a0006c0007t0002 a0007c0008t0003	a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 others(104): Show a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0054 a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0003g0035 a0001c0002t0003g0053 a0001c0002t0003g0118 a0001c0002t0004g0108 a0001c0002t0004g0109 a0001c0002t0004g0110 a0001c0002t0004g0111 a0001c0002t0004g0112 a0001c0002t0004g0113 a0001c0002t0004g0114 a0001c0002t0004g0115 a0001c0002t0008g0100 a0001c0002t0008g0101 a0001c0012t0001g0039 a0001c0016t0001g0273 a0002c0003t0003g0016 a0002c0003t0003g0017 a0002c0003t0003g0018 a0002c0003t0003g0019 a0002c0003t0003g0020 a0002c0003t0003g0021 a0002c0003t0003g0022 a0002c0003t0003g0023 a0002c0003t0003g0028 a0002c0003t0003g0030 a0002c0003t0003g0031 a0002c0003t0003g0032 a0002c0003t0003g0033 a0002c0003t0007g0024 a0002c0003t0007g0025 a0002c0009t0003g0029 a0002c0010t0009g0034 a0003c0013t0002g0261 a0004c0005t0005g0010 a0004c0005t0005g0011 a0004c0005t0005g0012 a0004c0005t0005g0013 a0004c0005t0005g0014 a0004c0005t0005g0015 a0006c0007t0002g0059 a0006c0007t0002g0060 a0006c0007t0002g0063 a0007c0008t0003g0026 a0007c0008t0003g0027	111	282	0.3936	c.903 others(3): Show c.903C>T	p.Ser others(6): Show p.Ser301Ser	ABCB10	ENSG00000135776.5	transcript	ENST00000344517.5	protein_coding	3/13	958/3869	903/2217	301/738	chr1	TogoVar
ABCB10_chr1_229511582_229563707	229549400	G G	A A	synonymous_variant synonymous_variant	LOW	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0039 a0001c0012t0001g0039	1	282	0.0035	c.552 others(3): Show c.552C>T	p.Ile others(6): Show p.Ile184Ile	ABCB10	ENSG00000135776.5	transcript	ENST00000344517.5	protein_coding	2/13	607/3869	552/2217	184/738	chr1	TogoVar
ABCB10_chr1_229511582_229563707	229549415	C C	T T	synonymous_variant synonymous_variant	LOW	HG01106.hp1 HG02451.hp1 HG03130.hp2 others(3): Show HG01106.hp1 HG02451.hp1 HG03130.hp2 HG03225.hp1 HG03471.hp2 NA20300.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0005	a0004c0005t0005g0010 a0004c0005t0005g0011 a0004c0005t0005g0012 others(3): Show a0004c0005t0005g0010 a0004c0005t0005g0011 a0004c0005t0005g0012 a0004c0005t0005g0013 a0004c0005t0005g0014 a0004c0005t0005g0015	6	282	0.0213	c.537 others(3): Show c.537G>A	p.Thr others(6): Show p.Thr179Thr	ABCB10	ENSG00000135776.5	transcript	ENST00000344517.5	protein_coding	2/13	592/3869	537/2217	179/738	chr1	TogoVar
ABCB10_chr1_229511582_229563707	229558209	G G	A A	synonymous_variant synonymous_variant	LOW	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0009 a0002c0010t0009	a0002c0010t0009g0034 a0002c0010t0009g0034	1	282	0.0035	c.444 others(3): Show c.444C>T	p.Arg others(6): Show p.Arg148Arg	ABCB10	ENSG00000135776.5	transcript	ENST00000344517.5	protein_coding	1/13	499/3869	444/2217	148/738	chr1	TogoVar
ABCB10_chr1_229511582_229563707	229558476	G G	C C	synonymous_variant synonymous_variant	LOW	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0273 a0001c0016t0001g0273	1	282	0.0035	c.177 others(3): Show c.177C>G	p.Leu others(5): Show p.Leu59Leu	ABCB10	ENSG00000135776.5	transcript	ENST00000344517.5	protein_coding	1/13	232/3869	177/2217	59/738	chr1	TogoVar
ABCB11_chr2_168915781_169036324	168930746	C C	T T	synonymous_variant synonymous_variant	LOW	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0052 a0002c0052	a0002c0052t0026 a0002c0052t0026	a0002c0052t0026g0097 a0002c0052t0026g0097	1	304	0.0033	c.333 others(4): Show c.3330G>A	p.Ala others(7): Show p.Ala1110Ala	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	25/28	3457/6934	3330/3966	1110/1321	chr2	TogoVar
ABCB11_chr2_168915781_169036324	168930818	T T	C C	synonymous_variant synonymous_variant	LOW	HG01255.hp1 HG01884.hp1 HG02258.hp1 others(6): Show HG01255.hp1 HG01884.hp1 HG02258.hp1 HG02630.hp1 HG02647.hp1 HG02723.hp2 HG02976.hp1 HG03195.hp1 NA18522.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0038 a0001c0049 a0002c0019 others(5): Show a0001c0038 a0001c0049 a0002c0019 a0002c0054 a0002c0065 a0002c0067 a0003c0043 a0008c0060	a0001c0038t0006 a0001c0049t0006 a0002c0019t0006 others(5): Show a0001c0038t0006 a0001c0049t0006 a0002c0019t0006 a0002c0054t0006 a0002c0065t0006 a0002c0067t0006 a0003c0043t0006 a0008c0060t0006	a0001c0038t0006g0177 a0001c0049t0006g0021 a0002c0019t0006g0075 others(6): Show a0001c0038t0006g0177 a0001c0049t0006g0021 a0002c0019t0006g0075 a0002c0019t0006g0165 a0002c0054t0006g0074 a0002c0065t0006g0222 a0002c0067t0006g0301 a0003c0043t0006g0082 a0008c0060t0006g0192	9	304	0.0296	c.325 others(4): Show c.3258A>G	p.Thr others(7): Show p.Thr1086Thr	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	25/28	3385/6934	3258/3966	1086/1321	chr2	TogoVar
ABCB11_chr2_168915781_169036324	168932506	T T	C C	synonymous_variant synonymous_variant	LOW	HG00280.hp2 HG00438.hp2 HG00558.hp1 others(144): Show HG00280.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01169.hp2 HG01175.hp2 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01952.hp2 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02293.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03017.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03710.hp2 HG03831.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18961.hp1 NA18962.hp2 NA18965.hp2 NA18969.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18987.hp2 NA18988.hp1 NA18991.hp2 NA18994.hp2 NA18998.hp1 NA19002.hp2 NA19003.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19070.hp1 NA19078.hp1 NA19078.hp2 NA19083.hp2 NA19084.hp2 NA19087.hp2 NA19240.hp2 NA20129.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0010 a0013 a0014 a0015 a0016	a0001c0001 a0001c0005 a0001c0007 others(21): Show a0001c0001 a0001c0005 a0001c0007 a0001c0022 a0001c0026 a0001c0063 a0002c0003 a0002c0008 a0002c0028 a0002c0055 a0002c0069 a0003c0013 a0003c0051 a0004c0023 a0004c0058 a0005c0021 a0005c0068 a0006c0032 a0006c0045 a0010c0035 a0013c0041 a0014c0034 a0015c0029 a0016c0040	a0001c0001t0001 a0001c0001t0010 a0001c0001t0013 others(36): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0020 a0001c0005t0001 a0001c0005t0010 a0001c0005t0017 a0001c0005t0030 a0001c0007t0001 a0001c0022t0001 a0001c0026t0001 a0001c0063t0001 a0002c0003t0001 a0002c0003t0010 a0002c0003t0013 a0002c0003t0014 a0002c0003t0028 a0002c0003t0029 a0002c0008t0001 a0002c0008t0018 a0002c0008t0032 a0002c0028t0001 a0002c0055t0018 a0002c0069t0031 a0003c0013t0001 a0003c0051t0001 a0004c0023t0001 a0004c0058t0001 a0005c0021t0001 a0005c0068t0001 a0006c0032t0001 a0006c0045t0001 a0010c0035t0001 a0013c0041t0001 a0014c0034t0001 a0015c0029t0001 a0016c0040t0001	a0001c0001t0001g0032 a0001c0001t0001g0060 a0001c0001t0001g0061 others(142): Show a0001c0001t0001g0032 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0083 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0233 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0010g0181 a0001c0001t0010g0239 a0001c0001t0013g0127 a0001c0001t0013g0257 a0001c0001t0014g0164 a0001c0001t0017g0128 a0001c0001t0020g0272 a0001c0005t0001g0200 a0001c0005t0001g0202 a0001c0005t0001g0209 a0001c0005t0001g0215 a0001c0005t0001g0218 a0001c0005t0001g0219 a0001c0005t0010g0208 a0001c0005t0017g0006 a0001c0005t0030g0211 a0001c0007t0001g0283 a0001c0007t0001g0287 a0001c0007t0001g0288 a0001c0007t0001g0290 a0001c0007t0001g0291 a0001c0007t0001g0292 a0001c0022t0001g0023 a0001c0022t0001g0024 a0001c0026t0001g0278 a0001c0026t0001g0279 a0001c0063t0001g0225 a0002c0003t0001g0001 a0002c0003t0001g0002 a0002c0003t0001g0008 a0002c0003t0001g0011 a0002c0003t0001g0017 a0002c0003t0001g0019 a0002c0003t0001g0022 a0002c0003t0001g0025 a0002c0003t0001g0026 a0002c0003t0001g0027 a0002c0003t0001g0031 a0002c0003t0001g0033 a0002c0003t0001g0034 a0002c0003t0001g0038 a0002c0003t0001g0039 a0002c0003t0001g0042 a0002c0003t0001g0044 a0002c0003t0001g0047 a0002c0003t0001g0049 a0002c0003t0001g0051 a0002c0003t0001g0052 a0002c0003t0001g0054 a0002c0003t0001g0069 a0002c0003t0001g0076 a0002c0003t0001g0161 a0002c0003t0001g0182 a0002c0003t0001g0183 a0002c0003t0001g0237 a0002c0003t0001g0263 a0002c0003t0001g0267 a0002c0003t0001g0270 a0002c0003t0010g0235 a0002c0003t0013g0007 a0002c0003t0014g0018 a0002c0003t0014g0080 a0002c0003t0028g0036 a0002c0003t0029g0070 a0002c0008t0001g0284 a0002c0008t0001g0302 a0002c0008t0018g0297 a0002c0008t0032g0282 a0002c0028t0001g0220 a0002c0028t0001g0300 a0002c0055t0018g0103 a0002c0069t0031g0050 a0003c0013t0001g0013 a0003c0013t0001g0014 a0003c0013t0001g0089 a0003c0051t0001g0077 a0004c0023t0001g0099 a0004c0023t0001g0100 a0004c0058t0001g0102 a0005c0021t0001g0115 a0005c0021t0001g0119 a0005c0068t0001g0231 a0006c0032t0001g0201 a0006c0045t0001g0059 a0010c0035t0001g0046 a0013c0041t0001g0178 a0014c0034t0001g0286 a0015c0029t0001g0217 a0016c0040t0001g0258	147	304	0.4836	c.308 others(4): Show c.3084A>G	p.Ala others(7): Show p.Ala1028Ala	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	24/28	3211/6934	3084/3966	1028/1321	chr2	TogoVar
ABCB11_chr2_168915781_169036324	168935255	C C	T T	synonymous_variant synonymous_variant	LOW	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0003 a0001c0036t0003	a0001c0036t0003g0243 a0001c0036t0003g0243	1	304	0.0033	c.298 others(4): Show c.2985G>A	p.Ala others(6): Show p.Ala995Ala	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	23/28	3112/6934	2985/3966	995/1321	chr2	TogoVar
ABCB11_chr2_168915781_169036324	168935297	G G	A A	synonymous_variant synonymous_variant	LOW	HG03486.hp2 HG03486.hp2	a0004 a0004	a0004c0058 a0004c0058	a0004c0058t0001 a0004c0058t0001	a0004c0058t0001g0102 a0004c0058t0001g0102	1	304	0.0033	c.294 others(4): Show c.2943C>T	p.Tyr others(6): Show p.Tyr981Tyr	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	23/28	3070/6934	2943/3966	981/1321	chr2	TogoVar
ABCB11_chr2_168915781_169036324	168944893	T T	C C	synonymous_variant synonymous_variant	LOW	HG01074.hp1 HG02055.hp2 HG02486.hp2 others(7): Show HG01074.hp1 HG02055.hp2 HG02486.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp2 HG02976.hp2 HG03209.hp2 NA19030.hp2 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0016 a0001c0039 a0002c0020 others(4): Show a0001c0016 a0001c0039 a0002c0020 a0002c0033 a0002c0056 a0003c0018 a0003c0064	a0001c0016t0008 a0001c0016t0033 a0001c0039t0008 others(7): Show a0001c0016t0008 a0001c0016t0033 a0001c0039t0008 a0002c0020t0008 a0002c0020t0037 a0002c0033t0008 a0002c0056t0011 a0003c0018t0011 a0003c0018t0036 a0003c0064t0011	a0001c0016t0008g0295 a0001c0016t0033g0293 a0001c0039t0008g0298 others(7): Show a0001c0016t0008g0295 a0001c0016t0033g0293 a0001c0039t0008g0298 a0002c0020t0008g0232 a0002c0020t0037g0078 a0002c0033t0008g0094 a0002c0056t0011g0071 a0003c0018t0011g0085 a0003c0018t0036g0224 a0003c0064t0011g0229	10	304	0.0329	c.241 others(4): Show c.2412A>G	p.Ala others(6): Show p.Ala804Ala	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	20/28	2539/6934	2412/3966	804/1321	chr2	TogoVar
ABCB11_chr2_168915781_169036324	168970063	C C	A A	synonymous_variant synonymous_variant	LOW	HG02129.hp2 HG03017.hp2 HG03490.hp1 others(3): Show HG02129.hp2 HG03017.hp2 HG03490.hp1 HG03831.hp2 HG04228.hp1 HG04228.hp2	a0005 a0005	a0005c0011 a0005c0021 a0005c0068 a0005c0011 a0005c0021 a0005c0068	a0005c0011t0002 a0005c0021t0001 a0005c0068t0001 a0005c0011t0002 a0005c0021t0001 a0005c0068t0001	a0005c0011t0002g0120 a0005c0011t0002g0122 a0005c0011t0002g0157 others(3): Show a0005c0011t0002g0120 a0005c0011t0002g0122 a0005c0011t0002g0157 a0005c0021t0001g0115 a0005c0021t0001g0119 a0005c0068t0001g0231	6	304	0.0197	c.179 others(4): Show c.1791G>T	p.Val others(6): Show p.Val597Val	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	15/28	1918/6934	1791/3966	597/1321	chr2	TogoVar
ABCB11_chr2_168915781_169036324	168971880	G G	A A	synonymous_variant synonymous_variant	LOW	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0002 a0001c0030t0002	a0001c0030t0002g0213 a0001c0030t0002g0213	1	304	0.0033	c.160 others(4): Show c.1605C>T	p.Ala others(6): Show p.Ala535Ala	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	14/28	1732/6934	1605/3966	535/1321	chr2	TogoVar
ABCB11_chr2_168915781_169036324	168979878	C C	T T	synonymous_variant synonymous_variant	LOW	HG01884.hp2 HG02257.hp1 HG02886.hp2 others(8): Show HG01884.hp2 HG02257.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG03130.hp2 HG03579.hp2 HG06807.hp1 NA18522.hp1 NA19030.hp1 NA19043.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0062 a0001c0063 a0002c0025 others(4): Show a0001c0062 a0001c0063 a0002c0025 a0002c0065 a0003c0013 a0003c0024 a0003c0064	a0001c0062t0004 a0001c0063t0001 a0002c0025t0004 others(5): Show a0001c0062t0004 a0001c0063t0001 a0002c0025t0004 a0002c0025t0008 a0002c0065t0006 a0003c0013t0001 a0003c0024t0004 a0003c0064t0011	a0001c0062t0004g0226 a0001c0063t0001g0225 a0002c0025t0004g0230 others(8): Show a0001c0062t0004g0226 a0001c0063t0001g0225 a0002c0025t0004g0230 a0002c0025t0008g0223 a0002c0065t0006g0222 a0003c0013t0001g0013 a0003c0013t0001g0014 a0003c0013t0001g0089 a0003c0024t0004g0227 a0003c0024t0004g0228 a0003c0064t0011g0229	11	304	0.0362	c.118 others(4): Show c.1185G>A	p.Glu others(6): Show p.Glu395Glu	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	11/28	1312/6934	1185/3966	395/1321	chr2	TogoVar
ABCB11_chr2_168915781_169036324	168986236	T T	C C	synonymous_variant synonymous_variant	LOW	HG00323.hp2 HG00733.hp2 HG01496.hp2 others(44): Show HG00323.hp2 HG00733.hp2 HG01496.hp2 HG01884.hp2 HG02055.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02717.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA19030.hp1 NA19043.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0007 a0009 a0012	a0001c0022 a0001c0026 a0001c0048 others(28): Show a0001c0022 a0001c0026 a0001c0048 a0001c0049 a0001c0062 a0001c0063 a0001c0066 a0002c0012 a0002c0025 a0002c0027 a0002c0028 a0002c0052 a0002c0054 a0002c0055 a0002c0056 a0002c0061 a0002c0065 a0002c0067 a0003c0013 a0003c0014 a0003c0024 a0003c0050 a0003c0051 a0003c0064 a0004c0009 a0004c0023 a0004c0058 a0005c0068 a0007c0047 a0009c0053 a0012c0057	a0001c0022t0001 a0001c0026t0001 a0001c0048t0007 others(36): Show a0001c0022t0001 a0001c0026t0001 a0001c0048t0007 a0001c0049t0006 a0001c0062t0004 a0001c0063t0001 a0001c0066t0004 a0002c0012t0004 a0002c0012t0005 a0002c0012t0007 a0002c0025t0004 a0002c0025t0008 a0002c0027t0005 a0002c0027t0006 a0002c0028t0001 a0002c0052t0026 a0002c0054t0006 a0002c0055t0018 a0002c0056t0011 a0002c0061t0005 a0002c0065t0006 a0002c0067t0006 a0003c0013t0001 a0003c0014t0005 a0003c0014t0006 a0003c0024t0004 a0003c0050t0009 a0003c0051t0001 a0003c0064t0011 a0004c0009t0004 a0004c0009t0005 a0004c0009t0007 a0004c0009t0022 a0004c0023t0001 a0004c0058t0001 a0005c0068t0001 a0007c0047t0007 a0009c0053t0016 a0012c0057t0016	a0001c0022t0001g0023 a0001c0022t0001g0024 a0001c0026t0001g0278 others(44): Show a0001c0022t0001g0023 a0001c0022t0001g0024 a0001c0026t0001g0278 a0001c0026t0001g0279 a0001c0048t0007g0020 a0001c0049t0006g0021 a0001c0062t0004g0226 a0001c0063t0001g0225 a0001c0066t0004g0280 a0002c0012t0004g0072 a0002c0012t0005g0096 a0002c0012t0007g0073 a0002c0025t0004g0230 a0002c0025t0008g0223 a0002c0027t0005g0299 a0002c0027t0006g0221 a0002c0028t0001g0220 a0002c0028t0001g0300 a0002c0052t0026g0097 a0002c0054t0006g0074 a0002c0055t0018g0103 a0002c0056t0011g0071 a0002c0061t0005g0098 a0002c0065t0006g0222 a0002c0067t0006g0301 a0003c0013t0001g0013 a0003c0013t0001g0014 a0003c0013t0001g0089 a0003c0014t0005g0196 a0003c0014t0005g0198 a0003c0014t0006g0197 a0003c0024t0004g0227 a0003c0024t0004g0228 a0003c0050t0009g0104 a0003c0051t0001g0077 a0003c0064t0011g0229 a0004c0009t0004g0105 a0004c0009t0005g0101 a0004c0009t0007g0108 a0004c0009t0022g0106 a0004c0023t0001g0099 a0004c0023t0001g0100 a0004c0058t0001g0102 a0005c0068t0001g0231 a0007c0047t0007g0090 a0009c0053t0016g0045 a0012c0057t0016g0107	47	304	0.1546	c.957 others(3): Show c.957A>G	p.Gly others(6): Show p.Gly319Gly	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	10/28	1084/6934	957/3966	319/1321	chr2	TogoVar
ABCB11_chr2_168915781_169036324	168990902	A A	G G	synonymous_variant synonymous_variant	LOW	HG00438.hp2 HG00558.hp2 HG02071.hp1 others(18): Show HG00438.hp2 HG00558.hp2 HG02071.hp1 HG02523.hp1 NA18747.hp1 NA18939.hp1 NA18943.hp2 NA18947.hp2 NA18969.hp2 NA18970.hp1 NA18978.hp2 NA18980.hp2 NA18983.hp2 NA18986.hp2 NA18988.hp2 NA19009.hp1 NA19011.hp1 NA19063.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0015	a0001c0005 a0001c0006 a0001c0030 others(3): Show a0001c0005 a0001c0006 a0001c0030 a0002c0031 a0006c0032 a0015c0029	a0001c0005t0001 a0001c0005t0010 a0001c0005t0017 others(7): Show a0001c0005t0001 a0001c0005t0010 a0001c0005t0017 a0001c0005t0030 a0001c0006t0002 a0001c0006t0034 a0001c0030t0002 a0002c0031t0002 a0006c0032t0001 a0015c0029t0001	a0001c0005t0001g0200 a0001c0005t0001g0202 a0001c0005t0001g0209 others(18): Show a0001c0005t0001g0200 a0001c0005t0001g0202 a0001c0005t0001g0209 a0001c0005t0001g0215 a0001c0005t0001g0218 a0001c0005t0001g0219 a0001c0005t0010g0208 a0001c0005t0017g0006 a0001c0005t0030g0211 a0001c0006t0002g0199 a0001c0006t0002g0205 a0001c0006t0002g0206 a0001c0006t0002g0207 a0001c0006t0002g0210 a0001c0006t0002g0212 a0001c0006t0002g0216 a0001c0006t0034g0214 a0001c0030t0002g0213 a0002c0031t0002g0236 a0006c0032t0001g0201 a0015c0029t0001g0217	21	304	0.0691	c.807 others(3): Show c.807T>C	p.Tyr others(6): Show p.Tyr269Tyr	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	9/28	934/6934	807/3966	269/1321	chr2	TogoVar
ABCB11_chr2_168915781_169036324	168996704	G G	A A	synonymous_variant synonymous_variant	LOW	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0061 a0002c0061	a0002c0061t0005 a0002c0061t0005	a0002c0061t0005g0098 a0002c0061t0005g0098	1	304	0.0033	c.408 others(3): Show c.408C>T	p.Ser others(6): Show p.Ser136Ser	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	6/28	535/6934	408/3966	136/1321	chr2	TogoVar
ABCB11_chr2_168915781_169036324	168996710	G G	A A	synonymous_variant synonymous_variant	LOW	HG01496.hp2 HG01884.hp2 HG02055.hp1 others(20): Show HG01496.hp2 HG01884.hp2 HG02055.hp1 HG02257.hp1 HG02647.hp1 HG02717.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03579.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp2 NA19030.hp1 NA19043.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0026 a0001c0062 a0001c0063 others(11): Show a0001c0026 a0001c0062 a0001c0063 a0001c0066 a0002c0025 a0002c0027 a0002c0028 a0002c0065 a0002c0067 a0003c0013 a0003c0014 a0003c0024 a0003c0064 a0005c0068	a0001c0026t0001 a0001c0062t0004 a0001c0063t0001 others(14): Show a0001c0026t0001 a0001c0062t0004 a0001c0063t0001 a0001c0066t0004 a0002c0025t0004 a0002c0025t0008 a0002c0027t0005 a0002c0027t0006 a0002c0028t0001 a0002c0065t0006 a0002c0067t0006 a0003c0013t0001 a0003c0014t0005 a0003c0014t0006 a0003c0024t0004 a0003c0064t0011 a0005c0068t0001	a0001c0026t0001g0278 a0001c0026t0001g0279 a0001c0062t0004g0226 others(20): Show a0001c0026t0001g0278 a0001c0026t0001g0279 a0001c0062t0004g0226 a0001c0063t0001g0225 a0001c0066t0004g0280 a0002c0025t0004g0230 a0002c0025t0008g0223 a0002c0027t0005g0299 a0002c0027t0006g0221 a0002c0028t0001g0220 a0002c0028t0001g0300 a0002c0065t0006g0222 a0002c0067t0006g0301 a0003c0013t0001g0013 a0003c0013t0001g0014 a0003c0013t0001g0089 a0003c0014t0005g0196 a0003c0014t0005g0198 a0003c0014t0006g0197 a0003c0024t0004g0227 a0003c0024t0004g0228 a0003c0064t0011g0229 a0005c0068t0001g0231	23	304	0.0757	c.402 others(3): Show c.402C>T	p.Ile others(6): Show p.Ile134Ile	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	6/28	529/6934	402/3966	134/1321	chr2	TogoVar
ABCB11_chr2_168915781_169036324	169013391	A A	G G	synonymous_variant synonymous_variant	LOW	HG00621.hp2 HG02040.hp1 HG02129.hp1 others(15): Show HG00621.hp2 HG02040.hp1 HG02129.hp1 HG02572.hp1 HG02717.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02976.hp2 HG03225.hp2 NA18939.hp2 NA18944.hp1 NA18953.hp1 NA18953.hp2 NA18988.hp1 NA19010.hp2 NA19064.hp1 NA19240.hp1	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0007 a0001c0015 a0001c0016 others(3): Show a0001c0007 a0001c0015 a0001c0016 a0002c0008 a0002c0010 a0014c0034	a0001c0007t0001 a0001c0015t0002 a0001c0015t0009 others(9): Show a0001c0007t0001 a0001c0015t0002 a0001c0015t0009 a0001c0016t0008 a0001c0016t0033 a0002c0008t0001 a0002c0008t0018 a0002c0008t0032 a0002c0010t0002 a0002c0010t0004 a0002c0010t0005 a0014c0034t0001	a0001c0007t0001g0283 a0001c0007t0001g0287 a0001c0007t0001g0288 others(15): Show a0001c0007t0001g0283 a0001c0007t0001g0287 a0001c0007t0001g0288 a0001c0007t0001g0290 a0001c0007t0001g0291 a0001c0007t0001g0292 a0001c0015t0002g0289 a0001c0015t0009g0294 a0001c0016t0008g0295 a0001c0016t0033g0293 a0002c0008t0001g0284 a0002c0008t0001g0302 a0002c0008t0018g0297 a0002c0008t0032g0282 a0002c0010t0002g0285 a0002c0010t0004g0296 a0002c0010t0005g0281 a0014c0034t0001g0286	18	304	0.0592	c.270 others(3): Show c.270T>C	p.Phe others(5): Show p.Phe90Phe	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	5/28	397/6934	270/3966	90/1321	chr2	TogoVar

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