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
ADGRA2_chr8_37791883_37849896	37841925	G G	A A	missense_variant missense_variant	MODERATE	HG00544.hp2 HG02129.hp1 HG02135.hp1 others(6): Show HG00544.hp2 HG02129.hp1 HG02135.hp1 HG02165.hp2 HG04184.hp1 NA18939.hp2 NA18950.hp2 NA18970.hp1 NA19081.hp2	a0002 a0002	a0002c0007 a0002c0020 a0002c0042 a0002c0007 a0002c0020 a0002c0042	a0002c0007t0001 a0002c0007t0021 a0002c0020t0001 others(1): Show a0002c0007t0001 a0002c0007t0021 a0002c0020t0001 a0002c0042t0001	a0002c0007t0001g0064 a0002c0007t0001g0177 a0002c0007t0001g0182 others(6): Show a0002c0007t0001g0064 a0002c0007t0001g0177 a0002c0007t0001g0182 a0002c0007t0001g0184 a0002c0007t0001g0265 a0002c0007t0021g0218 a0002c0020t0001g0023 a0002c0020t0001g0095 a0002c0042t0001g0334	9	368	0.0245	c.358 others(4): Show c.3587G>A	p.Cys others(7): Show p.Cys1196Tyr	ADGRA2	ENSG00000020181.18	transcript	ENST00000412232.3	protein_coding	19/19	3973/6944	3587/4017	1196/1338	chr8	TogoVar
ADGRA2_chr8_37791883_37849896	37842282	C C	T T	missense_variant missense_variant	MODERATE	HG02074.hp2 HG02135.hp2 HG02074.hp2 HG02135.hp2	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0001 a0009c0018t0001	a0009c0018t0001g0292 a0009c0018t0001g0327 a0009c0018t0001g0292 a0009c0018t0001g0327	2	368	0.0054	c.394 others(4): Show c.3944C>T	p.Thr others(7): Show p.Thr1315Ile	ADGRA2	ENSG00000020181.18	transcript	ENST00000412232.3	protein_coding	19/19	4330/6944	3944/4017	1315/1338	chr8	TogoVar
ADGRA3_chr4_22382376_22521066	22388030	T T	G G	missense_variant missense_variant	MODERATE	HG03540.hp1 HG03540.hp1	a0015 a0015	a0015c0032 a0015c0032	a0015c0032t0001 a0015c0032t0001	a0015c0032t0001g0116 a0015c0032t0001g0116	1	288	0.0035	c.364 others(4): Show c.3641A>C	p.Asn others(7): Show p.Asn1214Thr	ADGRA3	ENSG00000152990.14	transcript	ENST00000334304.10	protein_coding	19/19	3923/4577	3641/3966	1214/1321	chr4	TogoVar
ADGRA3_chr4_22382376_22521066	22388084	G G	C C	missense_variant missense_variant	MODERATE	HG02922.hp1 HG02922.hp1	a0013 a0013	a0013c0030 a0013c0030	a0013c0030t0001 a0013c0030t0001	a0013c0030t0001g0271 a0013c0030t0001g0271	1	288	0.0035	c.358 others(4): Show c.3587C>G	p.Thr others(7): Show p.Thr1196Arg	ADGRA3	ENSG00000152990.14	transcript	ENST00000334304.10	protein_coding	19/19	3869/4577	3587/3966	1196/1321	chr4	TogoVar
ADGRA3_chr4_22382376_22521066	22388174	A A	C C	missense_variant missense_variant	MODERATE	HG00741.hp2 HG01255.hp2 HG01928.hp1 others(12): Show HG00741.hp2 HG01255.hp2 HG01928.hp1 HG01934.hp1 HG02135.hp1 HG02155.hp1 HG03688.hp2 HG03834.hp2 NA18946.hp1 NA18980.hp2 NA18983.hp1 NA18998.hp1 NA19007.hp1 NA19054.hp1 NA19068.hp2	a0003 a0016 a0003 a0016	a0003c0006 a0003c0010 a0016c0041 a0003c0006 a0003c0010 a0016c0041	a0003c0006t0001 a0003c0006t0002 a0003c0010t0001 others(1): Show a0003c0006t0001 a0003c0006t0002 a0003c0010t0001 a0016c0041t0001	a0003c0006t0001g0039 a0003c0006t0001g0058 a0003c0006t0001g0152 others(12): Show a0003c0006t0001g0039 a0003c0006t0001g0058 a0003c0006t0001g0152 a0003c0006t0001g0153 a0003c0006t0001g0154 a0003c0006t0001g0155 a0003c0006t0001g0157 a0003c0006t0001g0158 a0003c0006t0002g0003 a0003c0010t0001g0176 a0003c0010t0001g0177 a0003c0010t0001g0184 a0003c0010t0001g0192 a0003c0010t0001g0197 a0016c0041t0001g0281	15	288	0.0521	c.349 others(4): Show c.3497T>G	p.Val others(7): Show p.Val1166Gly	ADGRA3	ENSG00000152990.14	transcript	ENST00000334304.10	protein_coding	19/19	3779/4577	3497/3966	1166/1321	chr4	TogoVar
ADGRA3_chr4_22382376_22521066	22388390	G G	A A	missense_variant missense_variant	MODERATE	NA18950.hp2 NA18950.hp2	a0018 a0018	a0018c0028 a0018c0028	a0018c0028t0001 a0018c0028t0001	a0018c0028t0001g0124 a0018c0028t0001g0124	1	288	0.0035	c.328 others(4): Show c.3281C>T	p.Ala others(7): Show p.Ala1094Val	ADGRA3	ENSG00000152990.14	transcript	ENST00000334304.10	protein_coding	19/19	3563/4577	3281/3966	1094/1321	chr4	TogoVar
ADGRA3_chr4_22382376_22521066	22388426	G G	A A	missense_variant missense_variant	MODERATE	NA18954.hp1 NA18964.hp1 NA18986.hp2 others(3): Show NA18954.hp1 NA18964.hp1 NA18986.hp2 NA19006.hp1 NA19057.hp1 NA19078.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0057 a0006c0009t0001g0071 a0006c0009t0001g0163 others(3): Show a0006c0009t0001g0057 a0006c0009t0001g0071 a0006c0009t0001g0163 a0006c0009t0001g0173 a0006c0009t0001g0174 a0006c0009t0001g0191	6	288	0.0208	c.324 others(4): Show c.3245C>T	p.Thr others(7): Show p.Thr1082Met	ADGRA3	ENSG00000152990.14	transcript	ENST00000334304.10	protein_coding	19/19	3527/4577	3245/3966	1082/1321	chr4	TogoVar
ADGRA3_chr4_22382376_22521066	22388544	C C	T T	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00544.hp1 HG00597.hp1 others(93): Show HG00140.hp2 HG00544.hp1 HG00597.hp1 HG00621.hp2 HG00733.hp1 HG00733.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01255.hp1 HG01258.hp2 HG01361.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG02040.hp1 HG02071.hp2 HG02074.hp2 HG02109.hp2 HG02135.hp2 HG02257.hp1 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp2 HG02922.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03516.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18612.hp1 NA18906.hp2 NA18944.hp2 NA18945.hp2 NA18951.hp2 NA18954.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18972.hp1 NA18975.hp2 NA18977.hp2 NA18986.hp2 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19030.hp2 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19074.hp2 NA19078.hp1 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0002 a0006 a0009 others(3): Show a0002 a0006 a0009 a0010 a0011 a0013	a0002c0003 a0002c0004 a0002c0005 others(9): Show a0002c0003 a0002c0004 a0002c0005 a0002c0008 a0002c0014 a0002c0017 a0002c0026 a0006c0009 a0009c0019 a0010c0016 a0011c0023 a0013c0030	a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 others(14): Show a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0004t0002 a0002c0005t0001 a0002c0005t0010 a0002c0008t0001 a0002c0014t0001 a0002c0014t0003 a0002c0017t0001 a0002c0026t0001 a0006c0009t0001 a0009c0019t0001 a0010c0016t0001 a0010c0016t0006 a0011c0023t0001 a0013c0030t0001	a0002c0003t0001g0001 a0002c0003t0001g0028 a0002c0003t0001g0029 others(92): Show a0002c0003t0001g0001 a0002c0003t0001g0028 a0002c0003t0001g0029 a0002c0003t0001g0085 a0002c0003t0001g0086 a0002c0003t0001g0087 a0002c0003t0001g0089 a0002c0003t0001g0105 a0002c0003t0001g0106 a0002c0003t0001g0115 a0002c0003t0001g0117 a0002c0003t0001g0129 a0002c0003t0001g0130 a0002c0003t0001g0133 a0002c0003t0001g0135 a0002c0003t0001g0138 a0002c0003t0001g0171 a0002c0003t0001g0178 a0002c0003t0001g0180 a0002c0003t0001g0202 a0002c0003t0001g0215 a0002c0003t0001g0222 a0002c0003t0001g0228 a0002c0003t0001g0229 a0002c0003t0001g0237 a0002c0003t0001g0254 a0002c0003t0002g0017 a0002c0004t0001g0021 a0002c0004t0001g0024 a0002c0004t0001g0031 a0002c0004t0001g0053 a0002c0004t0001g0059 a0002c0004t0001g0068 a0002c0004t0001g0073 a0002c0004t0001g0074 a0002c0004t0001g0109 a0002c0004t0001g0110 a0002c0004t0001g0111 a0002c0004t0001g0151 a0002c0004t0001g0162 a0002c0004t0001g0166 a0002c0004t0001g0187 a0002c0004t0001g0188 a0002c0004t0001g0190 a0002c0004t0001g0205 a0002c0004t0001g0216 a0002c0004t0001g0224 a0002c0004t0001g0227 a0002c0004t0001g0267 a0002c0004t0002g0013 a0002c0005t0001g0030 a0002c0005t0001g0075 a0002c0005t0001g0104 a0002c0005t0001g0107 a0002c0005t0001g0119 a0002c0005t0001g0142 a0002c0005t0001g0149 a0002c0005t0001g0185 a0002c0005t0001g0212 a0002c0005t0001g0217 a0002c0005t0001g0218 a0002c0005t0001g0231 a0002c0005t0001g0239 a0002c0005t0001g0246 a0002c0005t0001g0247 a0002c0005t0001g0248 a0002c0005t0001g0256 a0002c0005t0001g0257 a0002c0005t0001g0259 a0002c0005t0001g0263 a0002c0005t0010g0289 a0002c0008t0001g0067 a0002c0008t0001g0081 a0002c0008t0001g0156 a0002c0008t0001g0165 a0002c0008t0001g0195 a0002c0008t0001g0236 a0002c0014t0001g0032 a0002c0014t0003g0285 a0002c0014t0003g0286 a0002c0017t0001g0182 a0002c0017t0001g0193 a0002c0026t0001g0194 a0006c0009t0001g0057 a0006c0009t0001g0071 a0006c0009t0001g0163 a0006c0009t0001g0173 a0006c0009t0001g0174 a0006c0009t0001g0191 a0009c0019t0001g0280 a0009c0019t0001g0282 a0010c0016t0001g0219 a0010c0016t0006g0077 a0011c0023t0001g0235 a0013c0030t0001g0271	96	288	0.3333	c.312 others(4): Show c.3127G>A	p.Val others(7): Show p.Val1043Met	ADGRA3	ENSG00000152990.14	transcript	ENST00000334304.10	protein_coding	19/19	3409/4577	3127/3966	1043/1321	chr4	TogoVar
ADGRA3_chr4_22382376_22521066	22388627	A A	G G	missense_variant missense_variant	MODERATE	NA19080.hp2 NA19080.hp2	a0020 a0020	a0020c0027 a0020c0027	a0020c0027t0001 a0020c0027t0001	a0020c0027t0001g0140 a0020c0027t0001g0140	1	288	0.0035	c.304 others(4): Show c.3044T>C	p.Leu others(7): Show p.Leu1015Ser	ADGRA3	ENSG00000152990.14	transcript	ENST00000334304.10	protein_coding	19/19	3326/4577	3044/3966	1015/1321	chr4	TogoVar
ADGRA3_chr4_22382376_22521066	22392573	G G	T T	missense_variant missense_variant	MODERATE	HG02071.hp2 HG02071.hp2	a0011 a0011	a0011c0023 a0011c0023	a0011c0023t0001 a0011c0023t0001	a0011c0023t0001g0235 a0011c0023t0001g0235	1	288	0.0035	c.259 others(4): Show c.2599C>A	p.Pro others(6): Show p.Pro867Thr	ADGRA3	ENSG00000152990.14	transcript	ENST00000334304.10	protein_coding	17/19	2881/4577	2599/3966	867/1321	chr4	TogoVar
ADGRA3_chr4_22382376_22521066	22392616	T T	G G	missense_variant missense_variant	MODERATE	HG00408.hp1 HG00423.hp2 HG02132.hp1 others(9): Show HG00408.hp1 HG00423.hp2 HG02132.hp1 HG02602.hp2 HG03927.hp1 NA18950.hp1 NA18959.hp2 NA18986.hp1 NA19009.hp1 NA19010.hp2 NA19076.hp1 NA19088.hp1	a0004 a0007 a0004 a0007	a0004c0007 a0004c0021 a0007c0012 a0004c0007 a0004c0021 a0007c0012	a0004c0007t0002 a0004c0021t0001 a0007c0012t0001 a0004c0007t0002 a0004c0021t0001 a0007c0012t0001	a0004c0007t0002g0004 a0004c0007t0002g0005 a0004c0007t0002g0006 others(9): Show a0004c0007t0002g0004 a0004c0007t0002g0005 a0004c0007t0002g0006 a0004c0007t0002g0010 a0004c0007t0002g0011 a0004c0007t0002g0012 a0004c0007t0002g0015 a0004c0021t0001g0019 a0007c0012t0001g0080 a0007c0012t0001g0150 a0007c0012t0001g0160 a0007c0012t0001g0268	12	288	0.0417	c.255 others(4): Show c.2556A>C	p.Lys others(6): Show p.Lys852Asn	ADGRA3	ENSG00000152990.14	transcript	ENST00000334304.10	protein_coding	17/19	2838/4577	2556/3966	852/1321	chr4	TogoVar
ADGRA3_chr4_22382376_22521066	22402768	G G	A A	missense_variant missense_variant	MODERATE	HG00423.hp2 HG02132.hp1 HG02602.hp2 others(15): Show HG00423.hp2 HG02132.hp1 HG02602.hp2 HG02723.hp2 HG02886.hp2 HG03098.hp1 HG03486.hp1 HG03540.hp2 HG03927.hp1 HG04199.hp2 NA18906.hp1 NA18950.hp1 NA18969.hp1 NA19009.hp1 NA19010.hp2 NA19043.hp2 NA19088.hp1 NA20129.hp1	a0004 a0005 a0010 others(1): Show a0004 a0005 a0010 a0012	a0004c0007 a0004c0021 a0005c0013 others(5): Show a0004c0007 a0004c0021 a0005c0013 a0005c0024 a0005c0033 a0005c0034 a0010c0016 a0012c0036	a0004c0007t0002 a0004c0021t0001 a0005c0013t0001 others(6): Show a0004c0007t0002 a0004c0021t0001 a0005c0013t0001 a0005c0024t0007 a0005c0033t0001 a0005c0034t0002 a0010c0016t0001 a0010c0016t0006 a0012c0036t0001	a0004c0007t0002g0004 a0004c0007t0002g0005 a0004c0007t0002g0006 others(15): Show a0004c0007t0002g0004 a0004c0007t0002g0005 a0004c0007t0002g0006 a0004c0007t0002g0010 a0004c0007t0002g0011 a0004c0007t0002g0012 a0004c0007t0002g0015 a0004c0021t0001g0019 a0005c0013t0001g0020 a0005c0013t0001g0052 a0005c0013t0001g0203 a0005c0013t0001g0244 a0005c0024t0007g0118 a0005c0033t0001g0253 a0005c0034t0002g0008 a0010c0016t0001g0219 a0010c0016t0006g0077 a0012c0036t0001g0094	18	288	0.0625	c.226 others(4): Show c.2264C>T	p.Ala others(6): Show p.Ala755Val	ADGRA3	ENSG00000152990.14	transcript	ENST00000334304.10	protein_coding	15/19	2546/4577	2264/3966	755/1321	chr4	TogoVar
ADGRA3_chr4_22382376_22521066	22424270	T T	A A	missense_variant missense_variant	MODERATE	HG02965.hp2 HG02965.hp2	a0014 a0014	a0014c0037 a0014c0037	a0014c0037t0001 a0014c0037t0001	a0014c0037t0001g0260 a0014c0037t0001g0260	1	288	0.0035	c.152 others(4): Show c.1526A>T	p.Lys others(6): Show p.Lys509Ile	ADGRA3	ENSG00000152990.14	transcript	ENST00000334304.10	protein_coding	11/19	1808/4577	1526/3966	509/1321	chr4	TogoVar
ADGRA3_chr4_22382376_22521066	22445050	C C	T T	missense_variant missense_variant	MODERATE	HG02723.hp2 HG02723.hp2	a0012 a0012	a0012c0036 a0012c0036	a0012c0036t0001 a0012c0036t0001	a0012c0036t0001g0094 a0012c0036t0001g0094	1	288	0.0035	c.629 others(3): Show c.629G>A	p.Arg others(6): Show p.Arg210Gln	ADGRA3	ENSG00000152990.14	transcript	ENST00000334304.10	protein_coding	6/19	911/4577	629/3966	210/1321	chr4	TogoVar
ADGRA3_chr4_22382376_22521066	22445080	C C	T T	missense_variant missense_variant	MODERATE	NA18963.hp1 NA18963.hp1	a0019 a0019	a0019c0022 a0019c0022	a0019c0022t0001 a0019c0022t0001	a0019c0022t0001g0137 a0019c0022t0001g0137	1	288	0.0035	c.599 others(3): Show c.599G>A	p.Arg others(6): Show p.Arg200His	ADGRA3	ENSG00000152990.14	transcript	ENST00000334304.10	protein_coding	6/19	881/4577	599/3966	200/1321	chr4	TogoVar
ADGRA3_chr4_22382376_22521066	22454918	T T	A A	missense_variant missense_variant	MODERATE	HG02723.hp2 HG02965.hp2 HG02723.hp2 HG02965.hp2	a0012 a0014 a0012 a0014	a0012c0036 a0014c0037 a0012c0036 a0014c0037	a0012c0036t0001 a0014c0037t0001 a0012c0036t0001 a0014c0037t0001	a0012c0036t0001g0094 a0014c0037t0001g0260 a0012c0036t0001g0094 a0014c0037t0001g0260	2	288	0.0069	c.421 others(3): Show c.421A>T	p.Ile others(6): Show p.Ile141Leu	ADGRA3	ENSG00000152990.14	transcript	ENST00000334304.10	protein_coding	4/19	703/4577	421/3966	141/1321	chr4	TogoVar
ADGRA3_chr4_22382376_22521066	22515724	G G	C C	missense_variant missense_variant	MODERATE	NA18522.hp1 NA18522.hp1	a0017 a0017	a0017c0039 a0017c0039	a0017c0039t0009 a0017c0039t0009	a0017c0039t0009g0288 a0017c0039t0009g0288	1	288	0.0035	c.61C others(2): Show c.61C>G	p.Leu others(5): Show p.Leu21Val	ADGRA3	ENSG00000152990.14	transcript	ENST00000334304.10	protein_coding	1/19	343/4577	61/3966	21/1321	chr4	TogoVar
ADGRA3_chr4_22382376_22521066	22515732	G G	C C	missense_variant missense_variant	MODERATE	HG00140.hp2 HG01109.hp2 HG03491.hp2 others(3): Show HG00140.hp2 HG01109.hp2 HG03491.hp2 HG03688.hp2 HG04115.hp1 HG04204.hp1	a0008 a0009 a0016 a0008 a0009 a0016	a0008c0020 a0008c0040 a0009c0019 others(1): Show a0008c0020 a0008c0040 a0009c0019 a0016c0041	a0008c0020t0001 a0008c0040t0001 a0009c0019t0001 others(1): Show a0008c0020t0001 a0008c0040t0001 a0009c0019t0001 a0016c0041t0001	a0008c0020t0001g0279 a0008c0020t0001g0283 a0008c0040t0001g0278 others(3): Show a0008c0020t0001g0279 a0008c0020t0001g0283 a0008c0040t0001g0278 a0009c0019t0001g0280 a0009c0019t0001g0282 a0016c0041t0001g0281	6	288	0.0208	c.53C others(2): Show c.53C>G	p.Pro others(5): Show p.Pro18Arg	ADGRA3	ENSG00000152990.14	transcript	ENST00000334304.10	protein_coding	1/19	335/4577	53/3966	18/1321	chr4	TogoVar
ADGRB1_chr8_142444649_142550007	142464283	C C	T T	missense_variant missense_variant	MODERATE	HG04184.hp1 HG04184.hp1	a0011 a0011	a0011c0040 a0011c0040	a0011c0040t0001 a0011c0040t0001	a0011c0040t0001g0265 a0011c0040t0001g0265	1	307	0.0033	c.85C others(2): Show c.85C>T	p.Arg others(5): Show p.Arg29Trp	ADGRB1	ENSG00000181790.13	transcript	ENST00000517894.6	protein_coding	2/31	760/6020	85/4755	29/1584	chr8	TogoVar
ADGRB1_chr8_142444649_142550007	142464448	A A	G G	missense_variant missense_variant	MODERATE	HG03471.hp2 HG03471.hp2	a0009 a0009	a0009c0039 a0009c0039	a0009c0039t0003 a0009c0039t0003	a0009c0039t0003g0236 a0009c0039t0003g0236	1	308	0.0032	c.250 others(3): Show c.250A>G	p.Met others(5): Show p.Met84Val	ADGRB1	ENSG00000181790.13	transcript	ENST00000517894.6	protein_coding	2/31	925/6020	250/4755	84/1584	chr8	TogoVar
ADGRB1_chr8_142444649_142550007	142464556	T T	A A	missense_variant missense_variant	MODERATE	HG01169.hp2 HG01169.hp2	a0006 a0006	a0006c0041 a0006c0041	a0006c0041t0002 a0006c0041t0002	a0006c0041t0002g0090 a0006c0041t0002g0090	1	308	0.0032	c.358 others(3): Show c.358T>A	p.Phe others(6): Show p.Phe120Ile	ADGRB1	ENSG00000181790.13	transcript	ENST00000517894.6	protein_coding	2/31	1033/6020	358/4755	120/1584	chr8	TogoVar
ADGRB1_chr8_142444649_142550007	142464674	G G	C C	missense_variant missense_variant	MODERATE	HG00423.hp2 HG00673.hp1 HG02015.hp1 others(7): Show HG00423.hp2 HG00673.hp1 HG02015.hp1 HG02083.hp1 HG02132.hp1 NA18961.hp1 NA18970.hp1 NA18983.hp1 NA19011.hp1 NA19011.hp2	a0002 a0002	a0002c0005 a0002c0019 a0002c0020 a0002c0005 a0002c0019 a0002c0020	a0002c0005t0001 a0002c0005t0002 a0002c0005t0005 others(2): Show a0002c0005t0001 a0002c0005t0002 a0002c0005t0005 a0002c0019t0002 a0002c0020t0002	a0002c0005t0001g0017 a0002c0005t0001g0019 a0002c0005t0001g0020 others(7): Show a0002c0005t0001g0017 a0002c0005t0001g0019 a0002c0005t0001g0020 a0002c0005t0001g0023 a0002c0005t0002g0021 a0002c0005t0002g0022 a0002c0005t0002g0100 a0002c0005t0005g0244 a0002c0019t0002g0018 a0002c0020t0002g0054	10	308	0.0325	c.476 others(3): Show c.476G>C	p.Arg others(6): Show p.Arg159Pro	ADGRB1	ENSG00000181790.13	transcript	ENST00000517894.6	protein_coding	2/31	1151/6020	476/4755	159/1584	chr8	TogoVar
ADGRB1_chr8_142444649_142550007	142464794	G G	A A	missense_variant missense_variant	MODERATE	HG02056.hp2 HG02056.hp2	a0007 a0007	a0007c0021 a0007c0021	a0007c0021t0002 a0007c0021t0002	a0007c0021t0002g0103 a0007c0021t0002g0103	1	308	0.0032	c.596 others(3): Show c.596G>A	p.Gly others(6): Show p.Gly199Asp	ADGRB1	ENSG00000181790.13	transcript	ENST00000517894.6	protein_coding	2/31	1271/6020	596/4755	199/1584	chr8	TogoVar
ADGRB1_chr8_142444649_142550007	142476597	C C	T T	missense_variant missense_variant	MODERATE	NA19002.hp2 NA19002.hp2	a0012 a0012	a0012c0038 a0012c0038	a0012c0038t0002 a0012c0038t0002	a0012c0038t0002g0057 a0012c0038t0002g0057	1	308	0.0032	c.959 others(3): Show c.959C>T	p.Thr others(6): Show p.Thr320Ile	ADGRB1	ENSG00000181790.13	transcript	ENST00000517894.6	protein_coding	4/31	1634/6020	959/4755	320/1584	chr8	TogoVar
ADGRB1_chr8_142444649_142550007	142476639	G G	A A	missense_variant missense_variant	MODERATE	HG00544.hp2 HG02015.hp2 HG00544.hp2 HG02015.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0001 a0004c0012t0001	a0004c0012t0001g0109 a0004c0012t0001g0115 a0004c0012t0001g0109 a0004c0012t0001g0115	2	308	0.0065	c.100 others(4): Show c.1001G>A	p.Arg others(6): Show p.Arg334Gln	ADGRB1	ENSG00000181790.13	transcript	ENST00000517894.6	protein_coding	4/31	1676/6020	1001/4755	334/1584	chr8	TogoVar
ADGRB1_chr8_142444649_142550007	142477399	G G	A A	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00140.hp1	a0005 a0005	a0005c0023 a0005c0023	a0005c0023t0001 a0005c0023t0001	a0005c0023t0001g0164 a0005c0023t0001g0164	1	308	0.0032	c.123 others(4): Show c.1237G>A	p.Asp others(6): Show p.Asp413Asn	ADGRB1	ENSG00000181790.13	transcript	ENST00000517894.6	protein_coding	6/31	1912/6020	1237/4755	413/1584	chr8	TogoVar
ADGRB1_chr8_142444649_142550007	142477493	A A	G G	missense_variant missense_variant	MODERATE	NA19009.hp1 NA19009.hp1	a0013 a0013	a0013c0037 a0013c0037	a0013c0037t0002 a0013c0037t0002	a0013c0037t0002g0270 a0013c0037t0002g0270	1	308	0.0032	c.133 others(4): Show c.1331A>G	p.Asn others(6): Show p.Asn444Ser	ADGRB1	ENSG00000181790.13	transcript	ENST00000517894.6	protein_coding	6/31	2006/6020	1331/4755	444/1584	chr8	TogoVar
ADGRB1_chr8_142444649_142550007	142524290	G G	T T	missense_variant missense_variant	MODERATE	HG03654.hp1 HG03654.hp1	a0010 a0010	a0010c0031 a0010c0031	a0010c0031t0002 a0010c0031t0002	a0010c0031t0002g0141 a0010c0031t0002g0141	1	308	0.0032	c.329 others(4): Show c.3298G>T	p.Ala others(7): Show p.Ala1100Ser	ADGRB1	ENSG00000181790.13	transcript	ENST00000517894.6	protein_coding	23/31	3973/6020	3298/4755	1100/1584	chr8	TogoVar
ADGRB1_chr8_142444649_142550007	142543671	C C	T T	missense_variant missense_variant	MODERATE	HG02145.hp1 HG02257.hp2 HG02559.hp2 others(3): Show HG02145.hp1 HG02257.hp2 HG02559.hp2 HG02615.hp2 NA18906.hp2 NA20300.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0002 a0003c0009t0002	a0003c0009t0002g0007 a0003c0009t0002g0093 a0003c0009t0002g0293 others(2): Show a0003c0009t0002g0007 a0003c0009t0002g0093 a0003c0009t0002g0293 a0003c0009t0002g0295 a0003c0009t0002g0296	6	308	0.0195	c.452 others(4): Show c.4520C>T	p.Ala others(7): Show p.Ala1507Val	ADGRB1	ENSG00000181790.13	transcript	ENST00000517894.6	protein_coding	30/31	5195/6020	4520/4755	1507/1584	chr8	TogoVar
ADGRB2_chr1_31722117_31769340	31727448	G G	A A	missense_variant missense_variant	MODERATE	HG01109.hp2 HG01168.hp2 HG01261.hp1 others(5): Show HG01109.hp2 HG01168.hp2 HG01261.hp1 HG01433.hp2 HG01934.hp2 HG01978.hp2 HG01981.hp2 NA18975.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0010 a0003c0007t0001g0081 a0003c0007t0001g0103 others(3): Show a0003c0007t0001g0010 a0003c0007t0001g0081 a0003c0007t0001g0103 a0003c0007t0001g0154 a0003c0007t0001g0161 a0003c0007t0001g0163	8	278	0.0288	c.473 others(4): Show c.4730C>T	p.Pro others(7): Show p.Pro1577Leu	ADGRB2	ENSG00000121753.13	transcript	ENST00000373658.8	protein_coding	33/33	5377/5708	4730/4758	1577/1585	chr1	TogoVar
ADGRB2_chr1_31722117_31769340	31727478	C C	T T	missense_variant missense_variant	MODERATE	NA19011.hp2 NA19011.hp2	a0015 a0015	a0015c0020 a0015c0020	a0015c0020t0001 a0015c0020t0001	a0015c0020t0001g0182 a0015c0020t0001g0182	1	278	0.0036	c.470 others(4): Show c.4700G>A	p.Arg others(7): Show p.Arg1567Gln	ADGRB2	ENSG00000121753.13	transcript	ENST00000373658.8	protein_coding	33/33	5347/5708	4700/4758	1567/1585	chr1	TogoVar
ADGRB2_chr1_31722117_31769340	31728035	C C	G G	missense_variant missense_variant	MODERATE	HG00741.hp2 HG00741.hp2	a0007 a0007	a0007c0021 a0007c0021	a0007c0021t0001 a0007c0021t0001	a0007c0021t0001g0070 a0007c0021t0001g0070	1	278	0.0036	c.456 others(4): Show c.4562G>C	p.Ser others(7): Show p.Ser1521Thr	ADGRB2	ENSG00000121753.13	transcript	ENST00000373658.8	protein_coding	32/33	5209/5708	4562/4758	1521/1585	chr1	TogoVar
ADGRB2_chr1_31722117_31769340	31728042	C C	T T	missense_variant missense_variant	MODERATE	HG01255.hp2 HG01255.hp2	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0001 a0009c0018t0001	a0009c0018t0001g0104 a0009c0018t0001g0104	1	278	0.0036	c.455 others(4): Show c.4555G>A	p.Glu others(7): Show p.Glu1519Lys	ADGRB2	ENSG00000121753.13	transcript	ENST00000373658.8	protein_coding	32/33	5202/5708	4555/4758	1519/1585	chr1	TogoVar
ADGRB2_chr1_31722117_31769340	31728047	G G	A A	missense_variant missense_variant	MODERATE	HG02723.hp2 HG02723.hp2	a0012 a0012	a0012c0022 a0012c0022	a0012c0022t0001 a0012c0022t0001	a0012c0022t0001g0111 a0012c0022t0001g0111	1	278	0.0036	c.455 others(4): Show c.4550C>T	p.Ala others(7): Show p.Ala1517Val	ADGRB2	ENSG00000121753.13	transcript	ENST00000373658.8	protein_coding	32/33	5197/5708	4550/4758	1517/1585	chr1	TogoVar
ADGRB2_chr1_31722117_31769340	31728189	G G	A A	missense_variant missense_variant	MODERATE	HG01884.hp2 HG02258.hp2 HG02809.hp2 HG01884.hp2 HG02258.hp2 HG02809.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0039 a0005c0011t0001g0197 a0005c0011t0001g0039 a0005c0011t0001g0197	3	278	0.0108	c.450 others(4): Show c.4508C>T	p.Thr others(7): Show p.Thr1503Met	ADGRB2	ENSG00000121753.13	transcript	ENST00000373658.8	protein_coding	31/33	5155/5708	4508/4758	1503/1585	chr1	TogoVar
ADGRB2_chr1_31722117_31769340	31731067	C C	G G	missense_variant missense_variant	MODERATE	HG01243.hp1 HG01884.hp1 HG02886.hp2 others(6): Show HG01243.hp1 HG01884.hp1 HG02886.hp2 HG02976.hp1 HG03209.hp1 HG03225.hp2 HG03516.hp1 NA18906.hp2 NA19240.hp2	a0002 a0002	a0002c0006 a0002c0030 a0002c0006 a0002c0030	a0002c0006t0001 a0002c0030t0001 a0002c0006t0001 a0002c0030t0001	a0002c0006t0001g0019 a0002c0006t0001g0020 a0002c0006t0001g0068 others(4): Show a0002c0006t0001g0019 a0002c0006t0001g0020 a0002c0006t0001g0068 a0002c0006t0001g0091 a0002c0006t0001g0092 a0002c0006t0001g0093 a0002c0030t0001g0150	9	278	0.0324	c.411 others(4): Show c.4113G>C	p.Glu others(7): Show p.Glu1371Asp	ADGRB2	ENSG00000121753.13	transcript	ENST00000373658.8	protein_coding	29/33	4760/5708	4113/4758	1371/1585	chr1	TogoVar
ADGRB2_chr1_31722117_31769340	31735838	C C	T T	missense_variant missense_variant	MODERATE	HG01255.hp2 HG01255.hp2	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0001 a0009c0018t0001	a0009c0018t0001g0104 a0009c0018t0001g0104	1	278	0.0036	c.325 others(4): Show c.3256G>A	p.Val others(7): Show p.Val1086Ile	ADGRB2	ENSG00000121753.13	transcript	ENST00000373658.8	protein_coding	23/33	3903/5708	3256/4758	1086/1585	chr1	TogoVar
ADGRB2_chr1_31722117_31769340	31738875	G G	A A	missense_variant missense_variant	MODERATE	HG00544.hp2 HG00597.hp2 HG02083.hp1 others(4): Show HG00544.hp2 HG00597.hp2 HG02083.hp1 NA18969.hp2 NA18972.hp2 NA18986.hp2 NA19077.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0003 a0004c0008t0003	a0004c0008t0003g0045 a0004c0008t0003g0209 a0004c0008t0003g0210 others(3): Show a0004c0008t0003g0045 a0004c0008t0003g0209 a0004c0008t0003g0210 a0004c0008t0003g0211 a0004c0008t0003g0212 a0004c0008t0003g0213	7	278	0.0252	c.255 others(4): Show c.2558C>T	p.Pro others(6): Show p.Pro853Leu	ADGRB2	ENSG00000121753.13	transcript	ENST00000373658.8	protein_coding	16/33	3205/5708	2558/4758	853/1585	chr1	TogoVar
ADGRB2_chr1_31722117_31769340	31739501	G G	C C	missense_variant missense_variant	MODERATE	HG03486.hp1 HG03486.hp1	a0013 a0013	a0013c0025 a0013c0025	a0013c0025t0001 a0013c0025t0001	a0013c0025t0001g0079 a0013c0025t0001g0079	1	278	0.0036	c.230 others(4): Show c.2302C>G	p.Leu others(6): Show p.Leu768Val	ADGRB2	ENSG00000121753.13	transcript	ENST00000373658.8	protein_coding	15/33	2949/5708	2302/4758	768/1585	chr1	TogoVar
ADGRB2_chr1_31722117_31769340	31739579	T T	A A	missense_variant missense_variant	MODERATE	NA18993.hp2 NA18993.hp2	a0014 a0014	a0014c0026 a0014c0026	a0014c0026t0001 a0014c0026t0001	a0014c0026t0001g0174 a0014c0026t0001g0174	1	278	0.0036	c.222 others(4): Show c.2224A>T	p.Met others(6): Show p.Met742Leu	ADGRB2	ENSG00000121753.13	transcript	ENST00000373658.8	protein_coding	15/33	2871/5708	2224/4758	742/1585	chr1	TogoVar
ADGRB2_chr1_31722117_31769340	31740014	G G	C C	missense_variant missense_variant	MODERATE	HG02258.hp1 HG02258.hp1	a0011 a0011	a0011c0029 a0011c0029	a0011c0029t0001 a0011c0029t0001	a0011c0029t0001g0141 a0011c0029t0001g0141	1	278	0.0036	c.207 others(4): Show c.2079C>G	p.His others(6): Show p.His693Gln	ADGRB2	ENSG00000121753.13	transcript	ENST00000373658.8	protein_coding	14/33	2726/5708	2079/4758	693/1585	chr1	TogoVar
ADGRB2_chr1_31722117_31769340	31756295	C C	T T	missense_variant missense_variant	MODERATE	HG01175.hp2 HG01175.hp2	a0008 a0008	a0008c0017 a0008c0017	a0008c0017t0001 a0008c0017t0001	a0008c0017t0001g0198 a0008c0017t0001g0198	1	278	0.0036	c.542 others(3): Show c.542G>A	p.Arg others(6): Show p.Arg181His	ADGRB2	ENSG00000121753.13	transcript	ENST00000373658.8	protein_coding	4/33	1189/5708	542/4758	181/1585	chr1	TogoVar
ADGRB2_chr1_31722117_31769340	31756566	C C	T T	missense_variant missense_variant	MODERATE	HG01361.hp1 HG01361.hp1	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0001 a0010c0015t0001	a0010c0015t0001g0088 a0010c0015t0001g0088	1	278	0.0036	c.271 others(3): Show c.271G>A	p.Ala others(5): Show p.Ala91Thr	ADGRB2	ENSG00000121753.13	transcript	ENST00000373658.8	protein_coding	4/33	918/5708	271/4758	91/1585	chr1	TogoVar
ADGRB2_chr1_31722117_31769340	31756746	T T	C C	missense_variant missense_variant	MODERATE	HG02922.hp2 HG03139.hp1 HG02922.hp2 HG03139.hp1	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0005 a0006c0014t0005	a0006c0014t0005g0044 a0006c0014t0005g0044	2	278	0.0072	c.91A others(2): Show c.91A>G	p.Thr others(5): Show p.Thr31Ala	ADGRB2	ENSG00000121753.13	transcript	ENST00000373658.8	protein_coding	4/33	738/5708	91/4758	31/1585	chr1	TogoVar
ADGRB3_chr6_68630282_69394506	68639181	A A	G G	missense_variant missense_variant	MODERATE	HG00639.hp1 HG00639.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0111 a0003c0009t0001g0111	1	118	0.0085	c.506 others(3): Show c.506A>G	p.His others(6): Show p.His169Arg	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	3/32	1412/6090	506/4569	169/1522	chr6	TogoVar
ADGRB3_chr6_68630282_69394506	68956792	A A	G G	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00639.hp1 others(104): Show HG00099.hp1 HG00099.hp2 HG00639.hp1 HG00639.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01167.hp1 HG01167.hp2 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp2 NA18906.hp2 NA18957.hp1 NA18957.hp2 NA18966.hp2 NA19043.hp1 NA19043.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0003c0009 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0003t0001 a0001c0003t0002 a0001c0006t0001 a0003c0009t0001 a0004c0008t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(104): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0093 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0110 a0001c0001t0002g0116 a0001c0001t0003g0061 a0001c0001t0005g0105 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0008 a0001c0002t0001g0014 a0001c0002t0001g0017 a0001c0002t0001g0022 a0001c0002t0001g0024 a0001c0002t0001g0027 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0054 a0001c0002t0001g0086 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0106 a0001c0002t0002g0036 a0001c0002t0002g0040 a0001c0002t0002g0052 a0001c0002t0002g0063 a0001c0002t0002g0069 a0001c0002t0002g0109 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0117 a0001c0002t0002g0119 a0001c0002t0004g0051 a0001c0002t0006g0115 a0001c0003t0001g0010 a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 a0001c0003t0001g0015 a0001c0003t0001g0016 a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0001g0023 a0001c0003t0001g0029 a0001c0003t0001g0032 a0001c0003t0001g0033 a0001c0003t0001g0056 a0001c0003t0001g0062 a0001c0003t0001g0071 a0001c0003t0001g0078 a0001c0003t0001g0079 a0001c0003t0001g0082 a0001c0003t0001g0083 a0001c0003t0001g0089 a0001c0003t0001g0090 a0001c0003t0001g0112 a0001c0003t0002g0053 a0001c0003t0002g0120 a0001c0006t0001g0075 a0003c0009t0001g0111 a0004c0008t0001g0092	107	118	0.9068	c.150 others(4): Show c.1508A>G	p.Asn others(6): Show p.Asn503Ser	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	8/32	2414/6090	1508/4569	503/1522	chr6	TogoVar
ADGRB3_chr6_68630282_69394506	69235033	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03225.hp2 HG03225.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0092 a0004c0008t0001g0092	1	118	0.0085	c.260 others(4): Show c.2609T>C	p.Ile others(6): Show p.Ile870Thr	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	19/32	3515/6090	2609/4569	870/1522	chr6	TogoVar
ADGRD1_chr12_130948907_131146469	130987154	G G	A A	missense_variant missense_variant	MODERATE	HG00280.hp1 HG01106.hp1 HG01981.hp2 HG00280.hp1 HG01106.hp1 HG01981.hp2	a0005 a0005	a0005c0011 a0005c0021 a0005c0011 a0005c0021	a0005c0011t0002 a0005c0011t0008 a0005c0021t0021 a0005c0011t0002 a0005c0011t0008 a0005c0021t0021	a0005c0011t0002g0110 a0005c0011t0008g0047 a0005c0021t0021g0048 a0005c0011t0002g0110 a0005c0011t0008g0047 a0005c0021t0021g0048	3	240	0.0125	c.550 others(3): Show c.550G>A	p.Val others(6): Show p.Val184Ile	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	6/25	1109/5390	550/2625	184/874	chr12	TogoVar
ADGRD1_chr12_130948907_131146469	131003249	A A	G G	missense_variant missense_variant	MODERATE	NA20805.hp2 NA20805.hp2	a0011 a0011	a0011c0038 a0011c0038	a0011c0038t0002 a0011c0038t0002	a0011c0038t0002g0163 a0011c0038t0002g0163	1	240	0.0042	c.109 others(4): Show c.1091A>G	p.Asn others(6): Show p.Asn364Ser	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	10/25	1650/5390	1091/2625	364/874	chr12	TogoVar
ADGRD1_chr12_130948907_131146469	131006044	C C	T T	missense_variant missense_variant	MODERATE	HG02486.hp1 HG02486.hp1	a0007 a0007	a0007c0037 a0007c0037	a0007c0037t0042 a0007c0037t0042	a0007c0037t0042g0046 a0007c0037t0042g0046	1	240	0.0042	c.132 others(4): Show c.1328C>T	p.Thr others(6): Show p.Thr443Ile	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	12/25	1887/5390	1328/2625	443/874	chr12	TogoVar

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