Joint Open Genome and Omics Platform (JoGo)

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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
ABHD16B_chr20_63856498_63867988	63862418	G G	A A	missense_variant missense_variant	MODERATE	HG03540.hp1 HG03540.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0000 a0010c0010t0001g0000	1	396	0.0025	c.878 others(3): Show c.878G>A	p.Arg others(6): Show p.Arg293His	ABHD16B	ENSG00000183260.7	transcript	ENST00000369916.5	protein_coding	1/1	921/1491	878/1410	293/469	chr20	TogoVar
ABHD16B_chr20_63856498_63867988	63862496	G G	A A	missense_variant missense_variant	MODERATE	HG00673.hp2 HG00673.hp2	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0001 a0008c0015t0001	a0008c0015t0001g0000 a0008c0015t0001g0000	1	396	0.0025	c.956 others(3): Show c.956G>A	p.Arg others(6): Show p.Arg319His	ABHD16B	ENSG00000183260.7	transcript	ENST00000369916.5	protein_coding	1/1	999/1491	956/1410	319/469	chr20	TogoVar
ABHD16B_chr20_63856498_63867988	63862625	G G	A A	missense_variant missense_variant	MODERATE	HG00280.hp2 HG00597.hp2 HG00621.hp1 others(31): Show HG00280.hp2 HG00597.hp2 HG00621.hp1 HG00735.hp2 HG01981.hp2 HG02004.hp1 HG02027.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp2 HG02155.hp1 HG02165.hp2 HG02735.hp1 HG02735.hp2 HG03017.hp1 HG03540.hp1 HG03669.hp1 HG03834.hp1 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18960.hp2 NA18974.hp2 NA18982.hp2 NA18998.hp2 NA19054.hp2 NA19055.hp1 NA19057.hp1 NA19068.hp1 NA19080.hp2 NA19081.hp1 NA20752.hp2 NA20805.hp1	a0002 a0005 a0007 others(4): Show a0002 a0005 a0007 a0010 a0011 a0012 a0014	a0002c0002 a0005c0007 a0007c0012 others(4): Show a0002c0002 a0005c0007 a0007c0012 a0010c0010 a0011c0011 a0012c0009 a0014c0013	a0002c0002t0001 a0005c0007t0001 a0007c0012t0001 others(4): Show a0002c0002t0001 a0005c0007t0001 a0007c0012t0001 a0010c0010t0001 a0011c0011t0001 a0012c0009t0001 a0014c0013t0001	a0002c0002t0001g0000 a0005c0007t0001g0000 a0007c0012t0001g0000 others(4): Show a0002c0002t0001g0000 a0005c0007t0001g0000 a0007c0012t0001g0000 a0010c0010t0001g0000 a0011c0011t0001g0000 a0012c0009t0001g0000 a0014c0013t0001g0000	34	396	0.0859	c.108 others(4): Show c.1085G>A	p.Arg others(6): Show p.Arg362Gln	ABHD16B	ENSG00000183260.7	transcript	ENST00000369916.5	protein_coding	1/1	1128/1491	1085/1410	362/469	chr20	TogoVar
ABHD16B_chr20_63856498_63867988	63862775	A A	G G	missense_variant missense_variant	MODERATE	NA18963.hp2 NA18963.hp2	a0013 a0013	a0013c0020 a0013c0020	a0013c0020t0001 a0013c0020t0001	a0013c0020t0001g0000 a0013c0020t0001g0000	1	396	0.0025	c.123 others(4): Show c.1235A>G	p.Glu others(6): Show p.Glu412Gly	ABHD16B	ENSG00000183260.7	transcript	ENST00000369916.5	protein_coding	1/1	1278/1491	1235/1410	412/469	chr20	TogoVar
ABHD16B_chr20_63856498_63867988	63862838	G G	C C	missense_variant missense_variant	MODERATE	HG03669.hp1 HG03669.hp1	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0001 a0011c0011t0001	a0011c0011t0001g0000 a0011c0011t0001g0000	1	396	0.0025	c.129 others(4): Show c.1298G>C	p.Arg others(6): Show p.Arg433Pro	ABHD16B	ENSG00000183260.7	transcript	ENST00000369916.5	protein_coding	1/1	1341/1491	1298/1410	433/469	chr20	TogoVar
ABHD16B_chr20_63856498_63867988	63862871	G G	T T	missense_variant missense_variant	MODERATE	NA20805.hp1 NA20805.hp1	a0014 a0014	a0014c0013 a0014c0013	a0014c0013t0001 a0014c0013t0001	a0014c0013t0001g0000 a0014c0013t0001g0000	1	396	0.0025	c.133 others(4): Show c.1331G>T	p.Arg others(6): Show p.Arg444Leu	ABHD16B	ENSG00000183260.7	transcript	ENST00000369916.5	protein_coding	1/1	1374/1491	1331/1410	444/469	chr20	TogoVar
ABHD16B_chr20_63856498_63867988	63862888	G G	A A	missense_variant missense_variant	MODERATE	HG00621.hp1 HG00621.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0000 a0007c0012t0001g0000	1	396	0.0025	c.134 others(4): Show c.1348G>A	p.Val others(6): Show p.Val450Met	ABHD16B	ENSG00000183260.7	transcript	ENST00000369916.5	protein_coding	1/1	1391/1491	1348/1410	450/469	chr20	TogoVar
ABHD17A_chr19_1871810_1890496	1881283	C C	T T	missense_variant missense_variant	MODERATE	HG03098.hp2 HG03098.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0078 a0005c0005t0001g0078	1	414	0.0024	c.284 others(3): Show c.284G>A	p.Arg others(5): Show p.Arg95His	ABHD17A	ENSG00000129968.17	transcript	ENST00000292577.12	protein_coding	2/5	667/1706	284/933	95/310	chr19	TogoVar
ABHD17A_chr19_1871810_1890496	1881350	G G	T T	missense_variant missense_variant	MODERATE	HG02155.hp1 HG02155.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0034 a0003c0004t0001g0034	1	414	0.0024	c.217 others(3): Show c.217C>A	p.Arg others(5): Show p.Arg73Ser	ABHD17A	ENSG00000129968.17	transcript	ENST00000292577.12	protein_coding	2/5	600/1706	217/933	73/310	chr19	TogoVar
ABHD17A_chr19_1871810_1890496	1881388	G G	A A	missense_variant missense_variant	MODERATE	HG02280.hp1 HG02896.hp1 HG03139.hp2 others(2): Show HG02280.hp1 HG02896.hp1 HG03139.hp2 HG03579.hp1 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0009 a0002c0002t0001g0009	5	414	0.0121	c.179 others(3): Show c.179C>T	p.Ser others(5): Show p.Ser60Leu	ABHD17A	ENSG00000129968.17	transcript	ENST00000292577.12	protein_coding	2/5	562/1706	179/933	60/310	chr19	TogoVar
ABHD17A_chr19_1871810_1890496	1881391	G G	A A	missense_variant missense_variant	MODERATE	HG02572.hp1 HG02572.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0044 a0004c0007t0001g0044	1	414	0.0024	c.176 others(3): Show c.176C>T	p.Ser others(5): Show p.Ser59Phe	ABHD17A	ENSG00000129968.17	transcript	ENST00000292577.12	protein_coding	2/5	559/1706	176/933	59/310	chr19	TogoVar
ABHD18_chr4_127960406_128044953	128009119	C C	G G	missense_variant missense_variant	MODERATE	HG02723.hp2 HG02723.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0026 a0005c0008t0026	a0005c0008t0026g0210 a0005c0008t0026g0210	1	342	0.0029	c.370 others(3): Show c.370C>G	p.Arg others(6): Show p.Arg124Gly	ABHD18	ENSG00000164074.17	transcript	ENST00000645843.2	protein_coding	6/13	588/5753	370/1395	124/464	chr4	TogoVar
ABHD18_chr4_127960406_128044953	128028644	C C	T T	missense_variant missense_variant	MODERATE	HG00423.hp2 HG00438.hp1 HG00544.hp2 others(63): Show HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00738.hp2 HG01081.hp2 HG01358.hp2 HG01978.hp2 HG01981.hp1 HG02056.hp2 HG02074.hp2 HG02132.hp1 HG02273.hp2 HG02300.hp1 HG02523.hp1 NA18747.hp2 NA18939.hp2 NA18942.hp2 NA18943.hp2 NA18946.hp1 NA18947.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp2 NA18960.hp2 NA18962.hp1 NA18966.hp2 NA18968.hp1 NA18970.hp2 NA18974.hp2 NA18977.hp2 NA18978.hp2 NA18981.hp2 NA18983.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp2 NA18994.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19054.hp2 NA19056.hp1 NA19062.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp2 NA19070.hp1 NA19075.hp2 NA19077.hp1 NA19085.hp2 NA19086.hp2 NA19090.hp1 NA19091.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0007 a0002c0002 a0006c0007	a0002c0002t0001 a0002c0002t0014 a0002c0002t0020 others(17): Show a0002c0002t0001 a0002c0002t0014 a0002c0002t0020 a0002c0002t0021 a0002c0002t0029 a0002c0002t0030 a0002c0002t0031 a0002c0002t0032 a0002c0002t0033 a0002c0002t0049 a0002c0002t0050 a0002c0002t0051 a0002c0002t0052 a0002c0002t0053 a0002c0002t0054 a0002c0002t0055 a0002c0002t0056 a0002c0002t0057 a0002c0002t0093 a0006c0007t0001	a0002c0002t0001g0270 a0002c0002t0001g0272 a0002c0002t0001g0276 others(63): Show a0002c0002t0001g0270 a0002c0002t0001g0272 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0001g0286 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0295 a0002c0002t0001g0297 a0002c0002t0001g0299 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0305 a0002c0002t0001g0307 a0002c0002t0001g0310 a0002c0002t0001g0312 a0002c0002t0001g0313 a0002c0002t0001g0314 a0002c0002t0001g0315 a0002c0002t0001g0316 a0002c0002t0001g0319 a0002c0002t0001g0320 a0002c0002t0001g0322 a0002c0002t0001g0324 a0002c0002t0001g0326 a0002c0002t0001g0328 a0002c0002t0001g0329 a0002c0002t0001g0332 a0002c0002t0001g0333 a0002c0002t0014g0271 a0002c0002t0014g0303 a0002c0002t0014g0309 a0002c0002t0014g0311 a0002c0002t0014g0321 a0002c0002t0020g0282 a0002c0002t0020g0284 a0002c0002t0020g0308 a0002c0002t0020g0317 a0002c0002t0021g0291 a0002c0002t0021g0296 a0002c0002t0021g0304 a0002c0002t0021g0318 a0002c0002t0029g0292 a0002c0002t0029g0306 a0002c0002t0030g0273 a0002c0002t0030g0331 a0002c0002t0031g0281 a0002c0002t0031g0283 a0002c0002t0032g0285 a0002c0002t0032g0293 a0002c0002t0033g0323 a0002c0002t0033g0325 a0002c0002t0049g0300 a0002c0002t0050g0274 a0002c0002t0051g0294 a0002c0002t0052g0327 a0002c0002t0053g0330 a0002c0002t0054g0275 a0002c0002t0055g0269 a0002c0002t0056g0288 a0002c0002t0057g0298 a0002c0002t0093g0002 a0006c0007t0001g0287	66	342	0.1930	c.971 others(3): Show c.971C>T	p.Ala others(6): Show p.Ala324Val	ABHD18	ENSG00000164074.17	transcript	ENST00000645843.2	protein_coding	11/13	1189/5753	971/1395	324/464	chr4	TogoVar
ABHD18_chr4_127960406_128044953	128028695	A A	G G	missense_variant missense_variant	MODERATE	HG00423.hp2 HG00438.hp1 HG00544.hp2 others(63): Show HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00738.hp2 HG01081.hp2 HG01358.hp2 HG01978.hp2 HG01981.hp1 HG02056.hp2 HG02074.hp2 HG02132.hp1 HG02273.hp2 HG02300.hp1 HG02523.hp1 NA18747.hp2 NA18939.hp2 NA18942.hp2 NA18943.hp2 NA18946.hp1 NA18947.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp2 NA18960.hp2 NA18962.hp1 NA18966.hp2 NA18968.hp1 NA18970.hp2 NA18974.hp2 NA18977.hp2 NA18978.hp2 NA18981.hp2 NA18983.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp2 NA18994.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19054.hp2 NA19056.hp1 NA19062.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp2 NA19070.hp1 NA19075.hp2 NA19077.hp1 NA19085.hp2 NA19086.hp2 NA19090.hp1 NA19091.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0007 a0002c0002 a0006c0007	a0002c0002t0001 a0002c0002t0014 a0002c0002t0020 others(17): Show a0002c0002t0001 a0002c0002t0014 a0002c0002t0020 a0002c0002t0021 a0002c0002t0029 a0002c0002t0030 a0002c0002t0031 a0002c0002t0032 a0002c0002t0033 a0002c0002t0049 a0002c0002t0050 a0002c0002t0051 a0002c0002t0052 a0002c0002t0053 a0002c0002t0054 a0002c0002t0055 a0002c0002t0056 a0002c0002t0057 a0002c0002t0093 a0006c0007t0001	a0002c0002t0001g0270 a0002c0002t0001g0272 a0002c0002t0001g0276 others(63): Show a0002c0002t0001g0270 a0002c0002t0001g0272 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0001g0286 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0295 a0002c0002t0001g0297 a0002c0002t0001g0299 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0305 a0002c0002t0001g0307 a0002c0002t0001g0310 a0002c0002t0001g0312 a0002c0002t0001g0313 a0002c0002t0001g0314 a0002c0002t0001g0315 a0002c0002t0001g0316 a0002c0002t0001g0319 a0002c0002t0001g0320 a0002c0002t0001g0322 a0002c0002t0001g0324 a0002c0002t0001g0326 a0002c0002t0001g0328 a0002c0002t0001g0329 a0002c0002t0001g0332 a0002c0002t0001g0333 a0002c0002t0014g0271 a0002c0002t0014g0303 a0002c0002t0014g0309 a0002c0002t0014g0311 a0002c0002t0014g0321 a0002c0002t0020g0282 a0002c0002t0020g0284 a0002c0002t0020g0308 a0002c0002t0020g0317 a0002c0002t0021g0291 a0002c0002t0021g0296 a0002c0002t0021g0304 a0002c0002t0021g0318 a0002c0002t0029g0292 a0002c0002t0029g0306 a0002c0002t0030g0273 a0002c0002t0030g0331 a0002c0002t0031g0281 a0002c0002t0031g0283 a0002c0002t0032g0285 a0002c0002t0032g0293 a0002c0002t0033g0323 a0002c0002t0033g0325 a0002c0002t0049g0300 a0002c0002t0050g0274 a0002c0002t0051g0294 a0002c0002t0052g0327 a0002c0002t0053g0330 a0002c0002t0054g0275 a0002c0002t0055g0269 a0002c0002t0056g0288 a0002c0002t0057g0298 a0002c0002t0093g0002 a0006c0007t0001g0287	66	342	0.1930	c.102 others(4): Show c.1022A>G	p.Asn others(6): Show p.Asn341Ser	ABHD18	ENSG00000164074.17	transcript	ENST00000645843.2	protein_coding	11/13	1240/5753	1022/1395	341/464	chr4	TogoVar
ABHD18_chr4_127960406_128044953	128028718	A A	T T	missense_variant missense_variant	MODERATE	NA19000.hp2 NA19000.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0287 a0006c0007t0001g0287	1	342	0.0029	c.104 others(4): Show c.1045A>T	p.Ser others(6): Show p.Ser349Cys	ABHD18	ENSG00000164074.17	transcript	ENST00000645843.2	protein_coding	11/13	1263/5753	1045/1395	349/464	chr4	TogoVar
ABHD18_chr4_127960406_128044953	128028733	C C	G G	missense_variant missense_variant	MODERATE	NA18951.hp1 NA18986.hp1 NA19000.hp1 NA18951.hp1 NA18986.hp1 NA19000.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0007 a0004c0004t0012 a0004c0004t0039 a0004c0004t0007 a0004c0004t0012 a0004c0004t0039	a0004c0004t0007g0172 a0004c0004t0012g0174 a0004c0004t0039g0138 a0004c0004t0007g0172 a0004c0004t0012g0174 a0004c0004t0039g0138	3	342	0.0088	c.106 others(4): Show c.1060C>G	p.Arg others(6): Show p.Arg354Gly	ABHD18	ENSG00000164074.17	transcript	ENST00000645843.2	protein_coding	11/13	1278/5753	1060/1395	354/464	chr4	TogoVar
ABHD18_chr4_127960406_128044953	128028774	C C	A A	missense_variant missense_variant	MODERATE	HG00423.hp2 HG00438.hp1 HG00544.hp2 others(69): Show HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00738.hp2 HG01081.hp2 HG01358.hp2 HG01891.hp2 HG01978.hp2 HG01981.hp1 HG02056.hp2 HG02074.hp2 HG02132.hp1 HG02273.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02622.hp2 HG03225.hp2 NA18747.hp2 NA18939.hp2 NA18942.hp2 NA18943.hp2 NA18946.hp1 NA18947.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp2 NA18960.hp2 NA18962.hp1 NA18966.hp2 NA18968.hp1 NA18970.hp2 NA18974.hp2 NA18977.hp2 NA18978.hp2 NA18981.hp2 NA18983.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp2 NA18994.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19054.hp2 NA19056.hp1 NA19062.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp2 NA19070.hp1 NA19075.hp2 NA19077.hp1 NA19085.hp2 NA19086.hp2 NA19090.hp1 NA19091.hp2	a0002 a0003 a0006 a0002 a0003 a0006	a0002c0002 a0003c0003 a0006c0007 a0002c0002 a0003c0003 a0006c0007	a0002c0002t0001 a0002c0002t0014 a0002c0002t0020 others(22): Show a0002c0002t0001 a0002c0002t0014 a0002c0002t0020 a0002c0002t0021 a0002c0002t0029 a0002c0002t0030 a0002c0002t0031 a0002c0002t0032 a0002c0002t0033 a0002c0002t0049 a0002c0002t0050 a0002c0002t0051 a0002c0002t0052 a0002c0002t0053 a0002c0002t0054 a0002c0002t0055 a0002c0002t0056 a0002c0002t0057 a0002c0002t0093 a0003c0003t0034 a0003c0003t0048 a0003c0003t0058 a0003c0003t0059 a0003c0003t0060 a0006c0007t0001	a0002c0002t0001g0270 a0002c0002t0001g0272 a0002c0002t0001g0276 others(69): Show a0002c0002t0001g0270 a0002c0002t0001g0272 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0001g0286 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0295 a0002c0002t0001g0297 a0002c0002t0001g0299 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0305 a0002c0002t0001g0307 a0002c0002t0001g0310 a0002c0002t0001g0312 a0002c0002t0001g0313 a0002c0002t0001g0314 a0002c0002t0001g0315 a0002c0002t0001g0316 a0002c0002t0001g0319 a0002c0002t0001g0320 a0002c0002t0001g0322 a0002c0002t0001g0324 a0002c0002t0001g0326 a0002c0002t0001g0328 a0002c0002t0001g0329 a0002c0002t0001g0332 a0002c0002t0001g0333 a0002c0002t0014g0271 a0002c0002t0014g0303 a0002c0002t0014g0309 a0002c0002t0014g0311 a0002c0002t0014g0321 a0002c0002t0020g0282 a0002c0002t0020g0284 a0002c0002t0020g0308 a0002c0002t0020g0317 a0002c0002t0021g0291 a0002c0002t0021g0296 a0002c0002t0021g0304 a0002c0002t0021g0318 a0002c0002t0029g0292 a0002c0002t0029g0306 a0002c0002t0030g0273 a0002c0002t0030g0331 a0002c0002t0031g0281 a0002c0002t0031g0283 a0002c0002t0032g0285 a0002c0002t0032g0293 a0002c0002t0033g0323 a0002c0002t0033g0325 a0002c0002t0049g0300 a0002c0002t0050g0274 a0002c0002t0051g0294 a0002c0002t0052g0327 a0002c0002t0053g0330 a0002c0002t0054g0275 a0002c0002t0055g0269 a0002c0002t0056g0288 a0002c0002t0057g0298 a0002c0002t0093g0002 a0003c0003t0034g0134 a0003c0003t0034g0136 a0003c0003t0048g0256 a0003c0003t0058g0344 a0003c0003t0059g0135 a0003c0003t0060g0118 a0006c0007t0001g0287	72	342	0.2105	c.110 others(4): Show c.1101C>A	p.Ser others(6): Show p.Ser367Arg	ABHD18	ENSG00000164074.17	transcript	ENST00000645843.2	protein_coding	11/13	1319/5753	1101/1395	367/464	chr4	TogoVar
ABHD1_chr2_27118815_27135812	27128487	C C	A A	missense_variant missense_variant	MODERATE	HG02559.hp2 HG03453.hp1 NA19043.hp1 others(1): Show HG02559.hp2 HG03453.hp1 NA19043.hp1 NA21309.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0028 a0004c0004t0001g0029 a0004c0004t0001g0028 a0004c0004t0001g0029	4	398	0.0101	c.161 others(3): Show c.161C>A	p.Pro others(5): Show p.Pro54Gln	ABHD1	ENSG00000143994.14	transcript	ENST00000316470.9	protein_coding	2/9	295/1420	161/1218	54/405	chr2	TogoVar
ABHD1_chr2_27118815_27135812	27128601	G G	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18945.hp2 NA18945.hp2	a0010 a0010	a0010c0006 a0010c0006	a0010c0006t0001 a0010c0006t0001	a0010c0006t0001g0004 a0010c0006t0001g0004	1	398	0.0025	c.275 others(3): Show c.275G>C	p.Ser others(5): Show p.Ser92Thr	ABHD1	ENSG00000143994.14	transcript	ENST00000316470.9	protein_coding	2/9	409/1420	275/1218	92/405	chr2	TogoVar
ABHD1_chr2_27118815_27135812	27129080	G G	T T	missense_variant missense_variant	MODERATE	HG02895.hp1 HG02897.hp2 HG02965.hp2 others(2): Show HG02895.hp1 HG02897.hp2 HG02965.hp2 HG03041.hp1 HG06807.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0002 a0003c0003t0001 a0003c0003t0002	a0003c0003t0001g0027 a0003c0003t0001g0086 a0003c0003t0001g0116 others(1): Show a0003c0003t0001g0027 a0003c0003t0001g0086 a0003c0003t0001g0116 a0003c0003t0002g0091	5	398	0.0126	c.411 others(3): Show c.411G>T	p.Glu others(6): Show p.Glu137Asp	ABHD1	ENSG00000143994.14	transcript	ENST00000316470.9	protein_coding	3/9	545/1420	411/1218	137/405	chr2	TogoVar
ABHD1_chr2_27118815_27135812	27129318	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18963.hp1 NA18963.hp1	a0011 a0011	a0011c0007 a0011c0007	a0011c0007t0001 a0011c0007t0001	a0011c0007t0001g0001 a0011c0007t0001g0001	1	398	0.0025	c.461 others(3): Show c.461C>A	p.Ala others(6): Show p.Ala154Asp	ABHD1	ENSG00000143994.14	transcript	ENST00000316470.9	protein_coding	4/9	595/1420	461/1218	154/405	chr2	TogoVar
ABHD1_chr2_27118815_27135812	27129927	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18943.hp1 NA18943.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0017 a0009c0013t0001g0017	1	398	0.0025	c.791 others(3): Show c.791G>T	p.Arg others(6): Show p.Arg264Leu	ABHD1	ENSG00000143994.14	transcript	ENST00000316470.9	protein_coding	6/9	925/1420	791/1218	264/405	chr2	TogoVar
ABHD1_chr2_27118815_27135812	27130251	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18945.hp2 NA18945.hp2	a0010 a0010	a0010c0006 a0010c0006	a0010c0006t0001 a0010c0006t0001	a0010c0006t0001g0004 a0010c0006t0001g0004	1	398	0.0025	c.841 others(3): Show c.841G>A	p.Ala others(6): Show p.Ala281Thr	ABHD1	ENSG00000143994.14	transcript	ENST00000316470.9	protein_coding	8/9	975/1420	841/1218	281/405	chr2	TogoVar
ABHD1_chr2_27118815_27135812	27130279	G G	A A	missense_variant missense_variant	MODERATE	HG01175.hp2 HG01175.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0008 a0007c0008t0001g0008	1	398	0.0025	c.869 others(3): Show c.869G>A	p.Arg others(6): Show p.Arg290His	ABHD1	ENSG00000143994.14	transcript	ENST00000316470.9	protein_coding	8/9	1003/1420	869/1218	290/405	chr2	TogoVar
ABHD1_chr2_27118815_27135812	27130314	G G	A A	missense_variant missense_variant	MODERATE	HG02273.hp2 HG02273.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0052 a0008c0009t0001g0052	1	398	0.0025	c.904 others(3): Show c.904G>A	p.Val others(6): Show p.Val302Ile	ABHD1	ENSG00000143994.14	transcript	ENST00000316470.9	protein_coding	8/9	1038/1420	904/1218	302/405	chr2	TogoVar
ABHD1_chr2_27118815_27135812	27130562	C C	T T	missense_variant missense_variant	MODERATE	NA18951.hp2 NA18951.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0059 a0005c0012t0001g0059	1	398	0.0025	c.103 others(4): Show c.1036C>T	p.Pro others(6): Show p.Pro346Ser	ABHD1	ENSG00000143994.14	transcript	ENST00000316470.9	protein_coding	9/9	1170/1420	1036/1218	346/405	chr2	TogoVar
ABHD1_chr2_27118815_27135812	27130563	C C	A A	missense_variant missense_variant	MODERATE	NA19056.hp2 NA19056.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0067 a0005c0010t0001g0067	1	398	0.0025	c.103 others(4): Show c.1037C>A	p.Pro others(6): Show p.Pro346His	ABHD1	ENSG00000143994.14	transcript	ENST00000316470.9	protein_coding	9/9	1171/1420	1037/1218	346/405	chr2	TogoVar
ABHD1_chr2_27118815_27135812	27130639	G G	C C	missense_variant missense_variant	MODERATE	HG00438.hp1 HG00544.hp1 HG00597.hp2 others(96): Show HG00438.hp1 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01192.hp2 HG01358.hp1 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01928.hp1 HG01993.hp1 HG01993.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp1 HG03669.hp2 HG03831.hp1 HG04184.hp2 HG06807.hp1 NA18612.hp1 NA18941.hp1 NA18944.hp1 NA18945.hp1 NA18949.hp1 NA18949.hp2 NA18951.hp2 NA18952.hp2 NA18956.hp2 NA18959.hp2 NA18964.hp2 NA18967.hp1 NA18972.hp1 NA18980.hp2 NA18986.hp2 NA18988.hp1 NA18991.hp2 NA18993.hp1 NA19001.hp1 NA19002.hp2 NA19009.hp2 NA19030.hp1 NA19043.hp1 NA19056.hp2 NA19065.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19072.hp1 NA19080.hp1 NA19082.hp1 NA19084.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0002 a0004 a0005 others(2): Show a0002 a0004 a0005 a0006 a0008	a0002c0002 a0004c0004 a0005c0010 others(3): Show a0002c0002 a0004c0004 a0005c0010 a0005c0012 a0006c0011 a0008c0009	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(5): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0004c0004t0001 a0005c0010t0001 a0005c0012t0001 a0006c0011t0001 a0008c0009t0001	a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0011 others(37): Show a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0014 a0002c0002t0001g0020 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0025 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0054 a0002c0002t0001g0058 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0064 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0075 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0002g0002 a0002c0002t0003g0072 a0004c0004t0001g0028 a0004c0004t0001g0029 a0005c0010t0001g0067 a0005c0012t0001g0059 a0006c0011t0001g0023 a0008c0009t0001g0052	99	398	0.2487	c.111 others(4): Show c.1113G>C	p.Trp others(6): Show p.Trp371Cys	ABHD1	ENSG00000143994.14	transcript	ENST00000316470.9	protein_coding	9/9	1247/1420	1113/1218	371/405	chr2	TogoVar
ABHD1_chr2_27118815_27135812	27130641	A A	G G	missense_variant missense_variant	MODERATE	HG01123.hp2 HG01123.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0023 a0006c0011t0001g0023	1	398	0.0025	c.111 others(4): Show c.1115A>G	p.Tyr others(6): Show p.Tyr372Cys	ABHD1	ENSG00000143994.14	transcript	ENST00000316470.9	protein_coding	9/9	1249/1420	1115/1218	372/405	chr2	TogoVar
ABHD2_chr15_89083456_89207355	89175880	G G	A A	missense_variant missense_variant	MODERATE	NA19089.hp2 NA19089.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0113 a0002c0005t0005g0113	1	232	0.0043	c.607 others(3): Show c.607G>A	p.Val others(6): Show p.Val203Ile	ABHD2	ENSG00000140526.18	transcript	ENST00000352732.10	protein_coding	6/11	821/8424	607/1278	203/425	chr15	TogoVar
ABHD3_chr18_21645901_21709774	21659261	T T	C C	missense_variant missense_variant	MODERATE	NA19085.hp2 NA19085.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0205 a0004c0006t0002g0205	1	302	0.0033	c.751 others(3): Show c.751A>G	p.Thr others(6): Show p.Thr251Ala	ABHD3	ENSG00000158201.10	transcript	ENST00000289119.7	protein_coding	6/9	860/2029	751/1230	251/409	chr18	TogoVar
ABHD3_chr18_21645901_21709774	21702433	G G	A A	missense_variant missense_variant	MODERATE	HG03540.hp2 HG03540.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0005 a0003c0007t0005	a0003c0007t0005g0281 a0003c0007t0005g0281	1	302	0.0033	c.392 others(3): Show c.392C>T	p.Thr others(6): Show p.Thr131Met	ABHD3	ENSG00000158201.10	transcript	ENST00000289119.7	protein_coding	3/9	501/2029	392/1230	131/409	chr18	TogoVar
ABHD4_chr14_22593300_22617963	22609824	A A	G G	missense_variant missense_variant	MODERATE	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0041 a0002c0006t0003g0041	1	422	0.0024	c.853 others(3): Show c.853A>G	p.Met others(6): Show p.Met285Val	ABHD4	ENSG00000100439.11	transcript	ENST00000428304.7	protein_coding	6/7	860/3051	853/1029	285/342	chr14	TogoVar
ABHD5_chr3_43685938_43727725	43691003	A A	C C	missense_variant missense_variant	MODERATE	HG01109.hp2 HG02622.hp2 HG03041.hp1 HG01109.hp2 HG02622.hp2 HG03041.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0012 a0002c0003t0012	a0002c0003t0012g0018 a0002c0003t0012g0018	3	284	0.0106	c.11A others(2): Show c.11A>C	p.Glu others(4): Show p.Glu4Ala	ABHD5	ENSG00000011198.10	transcript	ENST00000644371.2	protein_coding	1/7	66/5298	11/1050	4/349	chr3	TogoVar
ABHD5_chr3_43685938_43727725	43691011	G G	A A	missense_variant missense_variant	MODERATE	HG02965.hp1 NA18906.hp1 HG02965.hp1 NA18906.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0015 a0003c0004t0015	a0003c0004t0015g0184 a0003c0004t0015g0185 a0003c0004t0015g0184 a0003c0004t0015g0185	2	284	0.0070	c.19G others(2): Show c.19G>A	p.Glu others(4): Show p.Glu7Lys	ABHD5	ENSG00000011198.10	transcript	ENST00000644371.2	protein_coding	1/7	74/5298	19/1050	7/349	chr3	TogoVar
ABHD5_chr3_43685938_43727725	43702283	T T	C C	missense_variant missense_variant	MODERATE	NA18522.hp2 NA18522.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0002 a0006c0005t0002	a0006c0005t0002g0122 a0006c0005t0002g0122	1	284	0.0035	c.202 others(3): Show c.202T>C	p.Phe others(5): Show p.Phe68Leu	ABHD5	ENSG00000011198.10	transcript	ENST00000644371.2	protein_coding	3/7	257/5298	202/1050	68/349	chr3	TogoVar
ABHD5_chr3_43685938_43727725	43702296	T T	C C	missense_variant missense_variant	MODERATE	NA19002.hp1 NA19002.hp1	a0008 a0008	a0008c0006 a0008c0006	a0008c0006t0001 a0008c0006t0001	a0008c0006t0001g0095 a0008c0006t0001g0095	1	284	0.0035	c.215 others(3): Show c.215T>C	p.Ile others(5): Show p.Ile72Thr	ABHD5	ENSG00000011198.10	transcript	ENST00000644371.2	protein_coding	3/7	270/5298	215/1050	72/349	chr3	TogoVar
ABHD5_chr3_43685938_43727725	43702371	A A	C C	missense_variant missense_variant	MODERATE	NA19030.hp1 NA19030.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0015 a0009c0010t0001g0015	1	284	0.0035	c.290 others(3): Show c.290A>C	p.Asp others(5): Show p.Asp97Ala	ABHD5	ENSG00000011198.10	transcript	ENST00000644371.2	protein_coding	3/7	345/5298	290/1050	97/349	chr3	TogoVar
ABHD5_chr3_43685938_43727725	43711753	G G	A A	missense_variant missense_variant	MODERATE	NA18946.hp1 NA18946.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0060 a0007c0007t0001g0060	1	284	0.0035	c.551 others(3): Show c.551G>A	p.Arg others(6): Show p.Arg184Gln	ABHD5	ENSG00000011198.10	transcript	ENST00000644371.2	protein_coding	4/7	606/5298	551/1050	184/349	chr3	TogoVar
ABHD5_chr3_43685938_43727725	43711830	C C	G G	missense_variant missense_variant	MODERATE	HG00544.hp1 HG00544.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0003 a0004c0009t0001g0003	1	284	0.0035	c.628 others(3): Show c.628C>G	p.Pro others(6): Show p.Pro210Ala	ABHD5	ENSG00000011198.10	transcript	ENST00000644371.2	protein_coding	4/7	683/5298	628/1050	210/349	chr3	TogoVar
ABHD5_chr3_43685938_43727725	43717717	A A	G G	missense_variant missense_variant	MODERATE	HG03516.hp1 HG03516.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0017 a0005c0008t0017	a0005c0008t0017g0110 a0005c0008t0017g0110	1	284	0.0035	c.820 others(3): Show c.820A>G	p.Lys others(6): Show p.Lys274Glu	ABHD5	ENSG00000011198.10	transcript	ENST00000644371.2	protein_coding	6/7	875/5298	820/1050	274/349	chr3	TogoVar
ABHD6_chr3_58232792_58299734	58256606	A A	G G	missense_variant missense_variant	MODERATE	NA18954.hp1 NA18954.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0184 a0004c0004t0001g0184	1	300	0.0033	c.20A others(2): Show c.20A>G	p.Asn others(4): Show p.Asn7Ser	ABHD6	ENSG00000163686.15	transcript	ENST00000478253.6	protein_coding	3/10	235/2198	20/1014	7/337	chr3	TogoVar
ABHD6_chr3_58232792_58299734	58256630	C C	T T	missense_variant missense_variant	MODERATE	HG01516.hp1 HG01517.hp2 HG01516.hp1 HG01517.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0007 a0002c0002t0001g0007	2	300	0.0067	c.44C others(2): Show c.44C>T	p.Thr others(5): Show p.Thr15Met	ABHD6	ENSG00000163686.15	transcript	ENST00000478253.6	protein_coding	3/10	259/2198	44/1014	15/337	chr3	TogoVar
ABHD6_chr3_58232792_58299734	58285447	A A	C C	missense_variant missense_variant	MODERATE	HG01123.hp1 HG01123.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0150 a0003c0003t0002g0150	1	300	0.0033	c.831 others(3): Show c.831A>C	p.Gln others(6): Show p.Gln277His	ABHD6	ENSG00000163686.15	transcript	ENST00000478253.6	protein_coding	9/10	1046/2198	831/1014	277/337	chr3	TogoVar
ABHD8_chr19_17287131_17308425	17292699	G G	T T	missense_variant missense_variant	MODERATE	HG03579.hp1 HG03579.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0182 a0004c0010t0001g0182	1	384	0.0026	c.128 others(4): Show c.1282C>A	p.Pro others(6): Show p.Pro428Thr	ABHD8	ENSG00000127220.6	transcript	ENST00000247706.4	protein_coding	5/5	1474/2042	1282/1320	428/439	chr19	TogoVar
ABHD8_chr19_17287131_17308425	17294793	C C	A A	missense_variant missense_variant	MODERATE	HG02572.hp1 HG02572.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0122 a0003c0007t0002g0122	1	384	0.0026	c.814 others(3): Show c.814G>T	p.Val others(6): Show p.Val272Leu	ABHD8	ENSG00000127220.6	transcript	ENST00000247706.4	protein_coding	3/5	1006/2042	814/1320	272/439	chr19	TogoVar
ABHD8_chr19_17287131_17308425	17301302	G G	T T	missense_variant missense_variant	MODERATE	NA18994.hp1 NA18994.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0186 a0005c0009t0001g0186	1	384	0.0026	c.315 others(3): Show c.315C>A	p.His others(6): Show p.His105Gln	ABHD8	ENSG00000127220.6	transcript	ENST00000247706.4	protein_coding	2/5	507/2042	315/1320	105/439	chr19	TogoVar
ABHD8_chr19_17287131_17308425	17301409	C C	T T	missense_variant missense_variant	MODERATE	HG00323.hp2 HG00408.hp1 HG00423.hp1 others(60): Show HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00544.hp2 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01123.hp1 HG01517.hp1 HG01891.hp2 HG01928.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02083.hp2 HG02129.hp1 HG02257.hp1 HG02280.hp1 HG02523.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp2 NA18906.hp1 NA18945.hp1 NA18948.hp2 NA18954.hp2 NA18959.hp1 NA18973.hp2 NA18978.hp1 NA18980.hp1 NA18985.hp1 NA18986.hp2 NA18999.hp2 NA19007.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19079.hp2 NA19084.hp1 NA19085.hp2 NA20129.hp1 NA20300.hp1 NA21309.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0008 a0003c0007 a0002c0002 a0002c0008 a0003c0007	a0002c0002t0002 a0002c0002t0005 a0002c0008t0002 others(1): Show a0002c0002t0002 a0002c0002t0005 a0002c0008t0002 a0003c0007t0002	a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0022 others(44): Show a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0026 a0002c0002t0002g0095 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0005g0025 a0002c0002t0005g0100 a0002c0002t0005g0107 a0002c0002t0005g0123 a0002c0002t0005g0130 a0002c0008t0002g0135 a0003c0007t0002g0122	63	384	0.1641	c.208 others(3): Show c.208G>A	p.Gly others(5): Show p.Gly70Arg	ABHD8	ENSG00000127220.6	transcript	ENST00000247706.4	protein_coding	2/5	400/2042	208/1320	70/439	chr19	TogoVar
ABI1_chr10_26741596_26865958	26759148	C C	G G	missense_variant missense_variant	MODERATE	NA18997.hp2 NA18997.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0253 a0002c0002t0002g0253	1	356	0.0028	c.911 others(3): Show c.911G>C	p.Gly others(6): Show p.Gly304Ala	ABI1	ENSG00000136754.18	transcript	ENST00000376140.4	protein_coding	8/11	1006/3515	911/1446	304/481	chr10	TogoVar
ABI1_chr10_26741596_26865958	26860837	C C	A A	missense_variant missense_variant	MODERATE	NA19043.hp2 NA19043.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0357 a0003c0003t0004g0357	1	356	0.0028	c.27G others(2): Show c.27G>T	p.Glu others(4): Show p.Glu9Asp	ABI1	ENSG00000136754.18	transcript	ENST00000376140.4	protein_coding	1/11	122/3515	27/1446	9/481	chr10	TogoVar

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