Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
ADGRG5_chr16_57537643_57582189	57562377	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02615.hp2 HG02895.hp1 HG02897.hp2 HG02615.hp2 HG02895.hp1 HG02897.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0020 a0002c0004t0005 a0001c0002t0020 a0002c0004t0005	a0001c0002t0020g0020 a0002c0004t0005g0111 a0001c0002t0020g0020 a0002c0004t0005g0111	3	404	0.0074	0	c.65- others(4): Show c.65-7C>G		ADGRG5	ENSG00000159618.16	transcript	ENST00000349457.8	protein_coding	2/11					chr16	TogoVar
ADGRG5_chr16_57537643_57582189	57570411	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01981.hp2 HG01993.hp1 HG01981.hp2 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	2	404	0.0050	0	c.109 others(6): Show c.1091-7C>G		ADGRG5	ENSG00000159618.16	transcript	ENST00000349457.8	protein_coding	9/11					chr16	TogoVar
ADGRG6_chr6_142297007_142451261	142417266	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	258	0.0039	0	c.293 others(6): Show c.2939-7G>A		ADGRG6	ENSG00000112414.15	transcript	ENST00000367609.8	protein_coding	20/24					chr6	TogoVar
ADGRG6_chr6_142297007_142451261	142438209	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02055.hp2 HG02257.hp1 HG02896.hp2 others(2): Show HG02055.hp2 HG02257.hp1 HG02896.hp2 HG02897.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0006 a0001c0001t0018 a0001c0007t0006 a0001c0001t0006 a0001c0001t0018 a0001c0007t0006	a0001c0001t0006g0241 a0001c0001t0006g0242 a0001c0001t0018g0250 others(2): Show a0001c0001t0006g0241 a0001c0001t0006g0242 a0001c0001t0018g0250 a0001c0007t0006g0239 a0001c0007t0006g0240	5	258	0.0194	0	c.342 others(6): Show c.3422-3C>T		ADGRG6	ENSG00000112414.15	transcript	ENST00000367609.8	protein_coding	23/24					chr6	TogoVar
ADGRG7_chr3_100604601_100700479	100655896	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(124): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp1 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02135.hp2 HG02258.hp1 HG02559.hp1 HG02602.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02735.hp2 HG02886.hp2 HG02896.hp1 HG02965.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03239.hp1 HG03579.hp1 HG03654.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18949.hp1 NA18953.hp2 NA18955.hp2 NA18957.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18968.hp2 NA18969.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18979.hp1 NA18986.hp1 NA18987.hp1 NA18990.hp1 NA18994.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19006.hp2 NA19009.hp1 NA19010.hp2 NA19064.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19077.hp1 NA19083.hp2 NA19085.hp1 NA19088.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0001 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0011 others(119): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0295 a0001c0001t0001g0315 a0001c0001t0003g0108 a0001c0001t0003g0126 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0006g0204	127	338	0.3757	0	c.172 others(6): Show c.1727-3T>C		ADGRG7	ENSG00000144820.8	transcript	ENST00000273352.8	protein_coding	12/15					chr3	TogoVar
ADGRL2_chr1_81795934_81998932	81801073	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0005	1	304	0.0033	0	c.-10 others(6): Show c.-101+5G>A		ADGRL2	ENSG00000117114.21	transcript	ENST00000686636.1	protein_coding	1/23					chr1	TogoVar
ADGRL2_chr1_81795934_81998932	81969387	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01069.hp1 HG01069.hp1	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0001 a0010c0015t0001	a0010c0015t0001g0284 a0010c0015t0001g0284	1	304	0.0033	0	c.273 others(4): Show c.2733G>A	p.Ala others(6): Show p.Ala911Ala	ADGRL2	ENSG00000117114.21	transcript	ENST00000686636.1	protein_coding	15/24	2968/7432	2733/4410	911/1469		chr1	TogoVar
ADGRL2_chr1_81795934_81998932	81969395	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18947.hp1 NA18974.hp1 NA18979.hp1 others(7): Show NA18947.hp1 NA18974.hp1 NA18979.hp1 NA18988.hp2 NA18995.hp2 NA19000.hp1 NA19011.hp2 NA19058.hp1 NA19070.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 a0001c0001t0035	a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0146 others(7): Show a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0009g0120 a0001c0001t0009g0121 a0001c0001t0009g0122 a0001c0001t0009g0123 a0001c0001t0009g0124 a0001c0001t0010g0244 a0001c0001t0035g0125	10	304	0.0329	0	c.273 others(6): Show c.2733+8C>T		ADGRL2	ENSG00000117114.21	transcript	ENST00000686636.1	protein_coding	15/23					chr1	TogoVar
ADGRL3_chr4_61195326_62083335	61934836	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp1 HG01109.hp2 HG01167.hp1 others(42): Show HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03540.hp1 HG03579.hp1 HG03710.hp1 NA18522.hp1 NA18522.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0017 a0002c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(37): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0029 a0001c0001t0031 a0001c0001t0038 a0001c0002t0008 a0001c0002t0013 a0001c0002t0014 a0001c0002t0018 a0001c0002t0021 a0001c0002t0026 a0001c0002t0030 a0001c0002t0033 a0001c0002t0034 a0001c0003t0003 a0001c0003t0006 a0001c0003t0007 a0001c0003t0037 a0001c0003t0040 a0001c0003t0041 a0001c0006t0006 a0001c0006t0010 a0001c0007t0001 a0001c0007t0017 a0001c0008t0004 a0001c0009t0023 a0001c0011t0007 a0001c0017t0028 a0002c0015t0001	a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0002g0013 others(42): Show a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0003g0021 a0001c0001t0004g0026 a0001c0001t0005g0034 a0001c0001t0008g0028 a0001c0001t0009g0025 a0001c0001t0012g0042 a0001c0001t0016g0002 a0001c0001t0019g0003 a0001c0001t0020g0004 a0001c0001t0022g0017 a0001c0001t0024g0018 a0001c0001t0029g0057 a0001c0001t0031g0050 a0001c0001t0038g0007 a0001c0002t0008g0022 a0001c0002t0013g0035 a0001c0002t0014g0041 a0001c0002t0018g0037 a0001c0002t0021g0005 a0001c0002t0026g0027 a0001c0002t0030g0055 a0001c0002t0033g0058 a0001c0002t0034g0054 a0001c0003t0003g0009 a0001c0003t0003g0030 a0001c0003t0006g0036 a0001c0003t0007g0039 a0001c0003t0037g0045 a0001c0003t0040g0008 a0001c0003t0041g0038 a0001c0006t0006g0033 a0001c0006t0010g0024 a0001c0007t0001g0046 a0001c0007t0017g0001 a0001c0008t0004g0023 a0001c0008t0004g0029 a0001c0009t0023g0043 a0001c0011t0007g0040 a0001c0017t0028g0019 a0002c0015t0001g0044	45	56	0.8036	0	c.211 others(6): Show c.2113-4G>A		ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	13/26					chr4	TogoVar
ADGRL3_chr4_61195326_62083335	61979772	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01109.hp1 HG01109.hp2 HG01169.hp2 others(21): Show HG01109.hp1 HG01109.hp2 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01884.hp1 HG02055.hp1 HG02109.hp2 HG02280.hp2 HG02451.hp1 HG02572.hp1 HG02622.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02886.hp1 HG03017.hp1 HG03139.hp2 HG03209.hp1 HG03579.hp1 HG03710.hp1 NA18522.hp2 NA19043.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0001c0009 others(2): Show a0001c0001 a0001c0007 a0001c0009 a0001c0017 a0002c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0029 a0001c0001t0031 a0001c0001t0038 a0001c0007t0001 a0001c0007t0017 a0001c0009t0023 a0001c0017t0028 a0002c0015t0001	a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0002g0013 others(21): Show a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0003g0021 a0001c0001t0004g0026 a0001c0001t0005g0034 a0001c0001t0008g0028 a0001c0001t0009g0025 a0001c0001t0012g0042 a0001c0001t0016g0002 a0001c0001t0019g0003 a0001c0001t0020g0004 a0001c0001t0022g0017 a0001c0001t0024g0018 a0001c0001t0029g0057 a0001c0001t0031g0050 a0001c0001t0038g0007 a0001c0007t0001g0046 a0001c0007t0017g0001 a0001c0009t0023g0043 a0001c0017t0028g0019 a0002c0015t0001g0044	24	56	0.4286	0	c.301 others(4): Show c.3015A>G	p.Pro others(7): Show p.Pro1005Pro	ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	18/27	4694/13738	3015/4632	1005/1543		chr4	TogoVar
ADGRL4_chr1_78884764_79011730	78921605	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0263 a0001c0001t0002g0263	1	388	0.0026	0	c.125 others(6): Show c.1257+8A>G		ADGRL4	ENSG00000162618.15	transcript	ENST00000370742.4	protein_coding	9/14					chr1	TogoVar
ADGRL4_chr1_78884764_79011730	78946266	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00438.hp2 HG00544.hp1 others(63): Show HG00099.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00673.hp2 HG01106.hp1 HG01361.hp2 HG01934.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp1 HG02083.hp2 HG02145.hp1 HG02155.hp2 HG02165.hp1 HG02622.hp1 HG02922.hp1 HG02965.hp1 HG03139.hp1 HG03209.hp1 HG03516.hp2 HG03834.hp1 HG04184.hp1 NA18939.hp1 NA18943.hp2 NA18945.hp1 NA18949.hp1 NA18950.hp1 NA18952.hp2 NA18954.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18964.hp2 NA18966.hp1 NA18971.hp1 NA18980.hp2 NA18983.hp2 NA18984.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp2 NA18991.hp1 NA18995.hp2 NA18998.hp1 NA19001.hp2 NA19002.hp2 NA19009.hp2 NA19010.hp1 NA19055.hp1 NA19059.hp1 NA19064.hp2 NA19065.hp1 NA19068.hp2 NA19070.hp2 NA19075.hp1 NA19076.hp1 NA19077.hp2 NA19080.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp2 NA19090.hp2 NA20129.hp1 NA20905.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0012c0014 a0001c0001 a0012c0014	a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0012c0014t0001	a0001c0001t0002g0003 a0001c0001t0002g0010 a0001c0001t0002g0011 others(59): Show a0001c0001t0002g0003 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0030 a0001c0001t0002g0080 a0001c0001t0002g0091 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0222 a0001c0001t0002g0256 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0287 a0001c0001t0002g0303 a0001c0001t0002g0326 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0003g0205 a0001c0001t0013g0037 a0012c0014t0001g0253	66	388	0.1701	0	c.325 others(5): Show c.325+8C>T		ADGRL4	ENSG00000162618.15	transcript	ENST00000370742.4	protein_coding	3/14					chr1	TogoVar
ADGRL4_chr1_78884764_79011730	78946276	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0006 a0007c0007t0001g0006	2	388	0.0052	0	c.323 others(3): Show c.323T>C	p.Ile others(6): Show p.Ile108Thr	ADGRL4	ENSG00000162618.15	transcript	ENST00000370742.4	protein_coding	3/15	399/3539	323/2073	108/690		chr1	TogoVar
ADGRV1_chr5_90553797_91169437	90629546	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01361.hp2 HG01884.hp1 HG02572.hp1 others(1): Show HG01361.hp2 HG01884.hp1 HG02572.hp1 HG02965.hp2	a0013 a0029 a0031 a0013 a0029 a0031	a0013c0015 a0029c0080 a0031c0079 a0013c0015 a0029c0080 a0031c0079	a0013c0015t0001 a0029c0080t0001 a0031c0079t0001 a0013c0015t0001 a0029c0080t0001 a0031c0079t0001	a0013c0015t0001g0006 a0013c0015t0001g0010 a0029c0080t0001g0011 others(1): Show a0013c0015t0001g0006 a0013c0015t0001g0010 a0029c0080t0001g0011 a0031c0079t0001g0012	4	156	0.0256	0	c.183 others(6): Show c.1839+7G>A		ADGRV1	ENSG00000164199.18	transcript	ENST00000405460.9	protein_coding	9/89					chr5	TogoVar
ADGRV1_chr5_90553797_91169437	90642770	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00621.hp1 HG00621.hp2 HG00741.hp1 others(127): Show HG00621.hp1 HG00621.hp2 HG00741.hp1 HG00741.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18951.hp1 NA18951.hp2 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18969.hp2 NA18980.hp1 NA18980.hp2 NA18990.hp1 NA19002.hp2 NA19009.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19077.hp1 NA19077.hp2 NA19082.hp1 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 others(65): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0016 a0017 a0018 a0019 a0020 a0023 a0024 a0025 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0037 a0038 a0040 a0041 a0042 a0043 a0044 a0045 a0046 a0047 a0048 a0049 a0050 a0051 a0052 a0053 a0054 a0055 a0056 a0057 a0058 a0059 a0060 a0061 a0062 a0063 a0064 a0065 a0067 a0068 a0069 a0070 a0071 a0072 a0073 a0074 a0075	a0001c0001 a0001c0008 a0002c0002 others(81): Show a0001c0001 a0001c0008 a0002c0002 a0002c0012 a0002c0017 a0002c0069 a0002c0081 a0002c0091 a0002c0095 a0003c0003 a0004c0005 a0004c0016 a0004c0025 a0004c0068 a0004c0071 a0005c0006 a0006c0034 a0007c0019 a0008c0018 a0009c0009 a0010c0070 a0010c0072 a0011c0055 a0011c0056 a0012c0013 a0013c0015 a0014c0011 a0016c0010 a0017c0029 a0017c0030 a0018c0047 a0018c0052 a0019c0014 a0020c0065 a0020c0066 a0023c0086 a0024c0099 a0025c0027 a0027c0084 a0028c0062 a0029c0080 a0030c0060 a0031c0079 a0032c0049 a0033c0058 a0034c0028 a0035c0078 a0037c0092 a0038c0085 a0040c0054 a0041c0090 a0042c0022 a0043c0045 a0044c0061 a0045c0023 a0046c0089 a0047c0043 a0048c0094 a0049c0059 a0050c0024 a0051c0083 a0052c0082 a0053c0046 a0054c0048 a0055c0057 a0056c0098 a0057c0093 a0058c0063 a0059c0050 a0060c0097 a0061c0073 a0062c0051 a0063c0026 a0064c0067 a0065c0053 a0067c0088 a0068c0075 a0069c0064 a0070c0077 a0071c0074 a0072c0044 a0073c0096 a0074c0076 a0075c0087	a0001c0001t0001 a0001c0001t0002 a0001c0008t0001 others(85): Show a0001c0001t0001 a0001c0001t0002 a0001c0008t0001 a0002c0002t0001 a0002c0002t0002 a0002c0012t0001 a0002c0017t0004 a0002c0069t0001 a0002c0081t0001 a0002c0091t0001 a0002c0095t0001 a0003c0003t0001 a0004c0005t0001 a0004c0005t0002 a0004c0016t0001 a0004c0025t0001 a0004c0068t0002 a0004c0071t0001 a0005c0006t0002 a0006c0034t0001 a0007c0019t0001 a0008c0018t0001 a0009c0009t0001 a0010c0070t0003 a0010c0072t0001 a0011c0055t0001 a0011c0056t0001 a0012c0013t0001 a0013c0015t0001 a0014c0011t0001 a0016c0010t0001 a0017c0029t0001 a0017c0030t0001 a0018c0047t0003 a0018c0052t0003 a0019c0014t0001 a0019c0014t0005 a0020c0065t0002 a0020c0066t0003 a0023c0086t0001 a0024c0099t0001 a0025c0027t0008 a0027c0084t0001 a0028c0062t0001 a0029c0080t0001 a0030c0060t0003 a0031c0079t0001 a0032c0049t0001 a0033c0058t0003 a0034c0028t0001 a0035c0078t0001 a0037c0092t0001 a0038c0085t0002 a0040c0054t0001 a0041c0090t0004 a0042c0022t0001 a0043c0045t0001 a0044c0061t0001 a0045c0023t0006 a0046c0089t0001 a0047c0043t0001 a0048c0094t0001 a0049c0059t0001 a0050c0024t0007 a0051c0083t0001 a0052c0082t0001 a0053c0046t0003 a0054c0048t0003 a0055c0057t0001 a0056c0098t0003 a0057c0093t0001 a0058c0063t0001 a0059c0050t0001 a0060c0097t0001 a0061c0073t0001 a0062c0051t0001 a0063c0026t0001 a0064c0067t0001 a0065c0053t0001 a0067c0088t0003 a0068c0075t0001 a0069c0064t0001 a0070c0077t0001 a0071c0074t0003 a0072c0044t0003 a0073c0096t0001 a0074c0076t0001 a0075c0087t0001	a0001c0001t0001g0016 a0001c0001t0001g0028 a0001c0001t0001g0030 others(127): Show a0001c0001t0001g0016 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0061 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0050 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0008t0001g0038 a0001c0008t0001g0106 a0001c0008t0001g0140 a0002c0002t0001g0025 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0075 a0002c0002t0001g0082 a0002c0002t0001g0087 a0002c0002t0001g0098 a0002c0002t0001g0103 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0012t0001g0008 a0002c0012t0001g0058 a0002c0017t0004g0095 a0002c0017t0004g0100 a0002c0069t0001g0055 a0002c0081t0001g0104 a0002c0091t0001g0079 a0002c0095t0001g0074 a0003c0003t0001g0136 a0004c0005t0001g0039 a0004c0005t0001g0091 a0004c0005t0001g0109 a0004c0005t0002g0052 a0004c0005t0002g0089 a0004c0016t0001g0085 a0004c0016t0001g0102 a0004c0025t0001g0086 a0004c0068t0002g0054 a0004c0071t0001g0007 a0005c0006t0002g0076 a0005c0006t0002g0083 a0005c0006t0002g0092 a0005c0006t0002g0093 a0005c0006t0002g0094 a0006c0034t0001g0077 a0007c0019t0001g0063 a0007c0019t0001g0064 a0008c0018t0001g0067 a0008c0018t0001g0070 a0009c0009t0001g0148 a0009c0009t0001g0149 a0010c0070t0003g0057 a0010c0072t0001g0009 a0011c0055t0001g0021 a0011c0056t0001g0022 a0012c0013t0001g0041 a0012c0013t0001g0042 a0013c0015t0001g0006 a0013c0015t0001g0010 a0014c0011t0001g0045 a0014c0011t0001g0046 a0016c0010t0001g0015 a0016c0010t0001g0062 a0017c0029t0001g0151 a0017c0030t0001g0152 a0018c0047t0003g0013 a0018c0052t0003g0014 a0019c0014t0001g0108 a0019c0014t0005g0107 a0020c0065t0002g0033 a0020c0066t0003g0019 a0023c0086t0001g0069 a0024c0099t0001g0001 a0025c0027t0008g0090 a0027c0084t0001g0099 a0028c0062t0001g0032 a0029c0080t0001g0011 a0030c0060t0003g0158 a0031c0079t0001g0012 a0032c0049t0001g0066 a0033c0058t0003g0060 a0034c0028t0001g0153 a0035c0078t0001g0018 a0037c0092t0001g0078 a0038c0085t0002g0084 a0040c0054t0001g0142 a0041c0090t0004g0101 a0042c0022t0001g0141 a0043c0045t0001g0005 a0044c0061t0001g0043 a0045c0023t0006g0155 a0046c0089t0001g0068 a0047c0043t0001g0027 a0048c0094t0001g0080 a0049c0059t0001g0059 a0050c0024t0007g0154 a0051c0083t0001g0096 a0052c0082t0001g0097 a0053c0046t0003g0004 a0054c0048t0003g0065 a0055c0057t0001g0144 a0056c0098t0003g0002 a0057c0093t0001g0139 a0058c0063t0001g0040 a0059c0050t0001g0150 a0060c0097t0001g0147 a0061c0073t0001g0157 a0062c0051t0001g0053 a0063c0026t0001g0081 a0064c0067t0001g0146 a0065c0053t0001g0017 a0067c0088t0003g0088 a0068c0075t0001g0056 a0069c0064t0001g0031 a0070c0077t0001g0026 a0071c0074t0003g0156 a0072c0044t0003g0003 a0073c0096t0001g0145 a0074c0076t0001g0020 a0075c0087t0001g0105	130	156	0.8333	0	c.236 others(6): Show c.2367+8C>T		ADGRV1	ENSG00000164199.18	transcript	ENST00000405460.9	protein_coding	12/89					chr5	TogoVar
ADGRV1_chr5_90553797_91169437	90681308	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01192.hp2 HG01192.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0008 a0002c0012t0001g0008	1	156	0.0064	0	c.552 others(6): Show c.5525-7C>T		ADGRV1	ENSG00000164199.18	transcript	ENST00000405460.9	protein_coding	26/89					chr5	TogoVar
ADGRV1_chr5_90553797_91169437	90694707	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02486.hp1 HG02976.hp1 HG03130.hp1 HG02486.hp1 HG02976.hp1 HG03130.hp1	a0002 a0041 a0002 a0041	a0002c0017 a0041c0090 a0002c0017 a0041c0090	a0002c0017t0004 a0041c0090t0004 a0002c0017t0004 a0041c0090t0004	a0002c0017t0004g0095 a0002c0017t0004g0100 a0041c0090t0004g0101 a0002c0017t0004g0095 a0002c0017t0004g0100 a0041c0090t0004g0101	3	156	0.0192	0	c.794 others(6): Show c.7945+6C>T		ADGRV1	ENSG00000164199.18	transcript	ENST00000405460.9	protein_coding	33/89					chr5	TogoVar
ADGRV1_chr5_90553797_91169437	90783117	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01243.hp1 HG02615.hp2 HG02976.hp2 others(1): Show HG01243.hp1 HG02615.hp2 HG02976.hp2 HG03516.hp1	a0024 a0044 a0054 others(1): Show a0024 a0044 a0054 a0062	a0024c0099 a0044c0061 a0054c0048 others(1): Show a0024c0099 a0044c0061 a0054c0048 a0062c0051	a0024c0099t0001 a0044c0061t0001 a0054c0048t0003 others(1): Show a0024c0099t0001 a0044c0061t0001 a0054c0048t0003 a0062c0051t0001	a0024c0099t0001g0001 a0044c0061t0001g0043 a0054c0048t0003g0065 others(1): Show a0024c0099t0001g0001 a0044c0061t0001g0043 a0054c0048t0003g0065 a0062c0051t0001g0053	4	156	0.0256	0	c.132 others(7): Show c.13232-7A>G		ADGRV1	ENSG00000164199.18	transcript	ENST00000405460.9	protein_coding	65/89					chr5	TogoVar
ADGRV1_chr5_90553797_91169437	90788064	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02486.hp2 HG02486.hp2	a0042 a0042	a0042c0022 a0042c0022	a0042c0022t0001 a0042c0022t0001	a0042c0022t0001g0141 a0042c0022t0001g0141	1	156	0.0064	0	c.136 others(7): Show c.13654-7C>T		ADGRV1	ENSG00000164199.18	transcript	ENST00000405460.9	protein_coding	67/89					chr5	TogoVar
ADGRV1_chr5_90553797_91169437	90788066	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03834.hp2 HG04184.hp2 HG03834.hp2 HG04184.hp2	a0006 a0019 a0006 a0019	a0006c0036 a0019c0014 a0006c0036 a0019c0014	a0006c0036t0005 a0019c0014t0005 a0006c0036t0005 a0019c0014t0005	a0006c0036t0005g0126 a0019c0014t0005g0107 a0006c0036t0005g0126 a0019c0014t0005g0107	2	156	0.0128	0	c.136 others(7): Show c.13654-5C>T		ADGRV1	ENSG00000164199.18	transcript	ENST00000405460.9	protein_coding	67/89					chr5	TogoVar
ADGRV1_chr5_90553797_91169437	90791344	C C	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18747.hp2 NA19082.hp2 NA18747.hp2 NA19082.hp2	a0021 a0021	a0021c0041 a0021c0042 a0021c0041 a0021c0042	a0021c0041t0001 a0021c0042t0001 a0021c0041t0001 a0021c0042t0001	a0021c0041t0001g0128 a0021c0042t0001g0143 a0021c0041t0001g0128 a0021c0042t0001g0143	2	156	0.0128	0	c.145 others(5): Show c.14515C>G	p.Gln others(7): Show p.Gln4839Glu	ADGRV1	ENSG00000164199.18	transcript	ENST00000405460.9	protein_coding	70/90	14614/19557	14515/18921	4839/6306		chr5	TogoVar
ADGRV1_chr5_90553797_91169437	91150009	C C	CT CT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00741.hp2 HG01884.hp1 HG02083.hp1 others(5): Show HG00741.hp2 HG01884.hp1 HG02083.hp1 HG02145.hp2 HG02486.hp1 HG02572.hp2 HG03834.hp2 NA18906.hp2	a0001 a0006 a0007 others(5): Show a0001 a0006 a0007 a0009 a0031 a0041 a0043 a0068	a0001c0001 a0006c0036 a0007c0019 others(5): Show a0001c0001 a0006c0036 a0007c0019 a0009c0009 a0031c0079 a0041c0090 a0043c0045 a0068c0075	a0001c0001t0001 a0006c0036t0005 a0007c0019t0001 others(5): Show a0001c0001t0001 a0006c0036t0005 a0007c0019t0001 a0009c0009t0001 a0031c0079t0001 a0041c0090t0004 a0043c0045t0001 a0068c0075t0001	a0001c0001t0001g0047 a0006c0036t0005g0126 a0007c0019t0001g0064 others(5): Show a0001c0001t0001g0047 a0006c0036t0005g0126 a0007c0019t0001g0064 a0009c0009t0001g0148 a0031c0079t0001g0012 a0041c0090t0004g0101 a0043c0045t0001g0005 a0068c0075t0001g0056	8	150	0.0533	1	c.184 others(8): Show c.18433-5dupT		ADGRV1	ENSG00000164199.18	transcript	ENST00000405460.9	protein_coding	87/89				INFO_REALIGN_3_PRIME	chr5	TogoVar
ADGRV1_chr5_90553797_91169437	91153214	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00621.hp1 HG00621.hp2 HG00741.hp1 others(137): Show HG00621.hp1 HG00621.hp2 HG00741.hp1 HG00741.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18951.hp1 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18969.hp1 NA18969.hp2 NA18980.hp1 NA18980.hp2 NA18990.hp1 NA18990.hp2 NA19002.hp1 NA19002.hp2 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19077.hp1 NA19077.hp2 NA19082.hp1 NA19082.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 others(65): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0023 a0025 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0035 a0036 a0037 a0038 a0039 a0040 a0041 a0042 a0043 a0046 a0047 a0048 a0049 a0050 a0051 a0052 a0053 a0054 a0056 a0057 a0058 a0059 a0060 a0061 a0062 a0063 a0064 a0065 a0066 a0067 a0068 a0069 a0070 a0071 a0072 a0073 a0074 a0075	a0001c0001 a0001c0008 a0002c0002 others(87): Show a0001c0001 a0001c0008 a0002c0002 a0002c0012 a0002c0017 a0002c0081 a0002c0091 a0002c0095 a0003c0003 a0003c0004 a0003c0007 a0003c0031 a0003c0039 a0004c0005 a0004c0016 a0004c0025 a0004c0068 a0005c0006 a0006c0034 a0006c0035 a0006c0036 a0007c0019 a0008c0018 a0009c0009 a0010c0070 a0010c0072 a0011c0055 a0011c0056 a0012c0013 a0013c0015 a0014c0011 a0015c0038 a0015c0040 a0016c0010 a0017c0029 a0017c0030 a0018c0047 a0018c0052 a0019c0014 a0020c0065 a0020c0066 a0021c0041 a0021c0042 a0023c0086 a0025c0027 a0027c0084 a0028c0062 a0029c0080 a0030c0060 a0031c0079 a0032c0049 a0033c0058 a0035c0078 a0036c0032 a0037c0092 a0038c0085 a0039c0021 a0040c0054 a0041c0090 a0042c0022 a0043c0045 a0046c0089 a0047c0043 a0048c0094 a0049c0059 a0050c0024 a0051c0083 a0052c0082 a0053c0046 a0054c0048 a0056c0098 a0057c0093 a0058c0063 a0059c0050 a0060c0097 a0061c0073 a0062c0051 a0063c0026 a0064c0067 a0065c0053 a0066c0033 a0067c0088 a0068c0075 a0069c0064 a0070c0077 a0071c0074 a0072c0044 a0073c0096 a0074c0076 a0075c0087	a0001c0001t0001 a0001c0001t0002 a0001c0008t0001 others(91): Show a0001c0001t0001 a0001c0001t0002 a0001c0008t0001 a0002c0002t0001 a0002c0002t0002 a0002c0012t0001 a0002c0017t0004 a0002c0081t0001 a0002c0091t0001 a0002c0095t0001 a0003c0003t0001 a0003c0004t0001 a0003c0007t0001 a0003c0031t0001 a0003c0039t0001 a0004c0005t0001 a0004c0005t0002 a0004c0016t0001 a0004c0025t0001 a0004c0068t0002 a0005c0006t0002 a0006c0034t0001 a0006c0035t0001 a0006c0036t0005 a0007c0019t0001 a0008c0018t0001 a0009c0009t0001 a0010c0070t0003 a0010c0072t0001 a0011c0055t0001 a0011c0056t0001 a0012c0013t0001 a0013c0015t0001 a0014c0011t0001 a0015c0038t0001 a0015c0040t0001 a0016c0010t0001 a0017c0029t0001 a0017c0030t0001 a0018c0047t0003 a0018c0052t0003 a0019c0014t0001 a0019c0014t0005 a0020c0065t0002 a0020c0066t0003 a0021c0041t0001 a0021c0042t0001 a0023c0086t0001 a0025c0027t0008 a0027c0084t0001 a0028c0062t0001 a0029c0080t0001 a0030c0060t0003 a0031c0079t0001 a0032c0049t0001 a0033c0058t0003 a0035c0078t0001 a0036c0032t0001 a0037c0092t0001 a0038c0085t0002 a0039c0021t0001 a0040c0054t0001 a0041c0090t0004 a0042c0022t0001 a0043c0045t0001 a0046c0089t0001 a0047c0043t0001 a0048c0094t0001 a0049c0059t0001 a0050c0024t0007 a0051c0083t0001 a0052c0082t0001 a0053c0046t0003 a0054c0048t0003 a0056c0098t0003 a0057c0093t0001 a0058c0063t0001 a0059c0050t0001 a0060c0097t0001 a0061c0073t0001 a0062c0051t0001 a0063c0026t0001 a0064c0067t0001 a0065c0053t0001 a0066c0033t0001 a0067c0088t0003 a0068c0075t0001 a0069c0064t0001 a0070c0077t0001 a0071c0074t0003 a0072c0044t0003 a0073c0096t0001 a0074c0076t0001 a0075c0087t0001	a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0034 others(137): Show a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0061 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0050 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0008t0001g0038 a0001c0008t0001g0106 a0001c0008t0001g0140 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0075 a0002c0002t0001g0082 a0002c0002t0001g0087 a0002c0002t0001g0098 a0002c0002t0001g0103 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0012t0001g0008 a0002c0012t0001g0058 a0002c0017t0004g0095 a0002c0017t0004g0100 a0002c0081t0001g0104 a0002c0091t0001g0079 a0002c0095t0001g0074 a0003c0003t0001g0117 a0003c0003t0001g0118 a0003c0003t0001g0127 a0003c0003t0001g0131 a0003c0003t0001g0134 a0003c0003t0001g0136 a0003c0004t0001g0115 a0003c0004t0001g0122 a0003c0004t0001g0124 a0003c0004t0001g0129 a0003c0004t0001g0132 a0003c0007t0001g0112 a0003c0007t0001g0119 a0003c0007t0001g0121 a0003c0007t0001g0130 a0003c0031t0001g0123 a0003c0039t0001g0116 a0004c0005t0001g0039 a0004c0005t0001g0091 a0004c0005t0001g0109 a0004c0005t0002g0052 a0004c0005t0002g0089 a0004c0016t0001g0085 a0004c0016t0001g0102 a0004c0025t0001g0086 a0004c0068t0002g0054 a0005c0006t0002g0076 a0005c0006t0002g0083 a0005c0006t0002g0092 a0005c0006t0002g0093 a0005c0006t0002g0094 a0006c0034t0001g0077 a0006c0035t0001g0120 a0006c0036t0005g0126 a0007c0019t0001g0064 a0008c0018t0001g0067 a0008c0018t0001g0070 a0009c0009t0001g0149 a0010c0070t0003g0057 a0010c0072t0001g0009 a0011c0055t0001g0021 a0011c0056t0001g0022 a0012c0013t0001g0041 a0013c0015t0001g0006 a0014c0011t0001g0045 a0014c0011t0001g0046 a0015c0038t0001g0113 a0015c0040t0001g0114 a0016c0010t0001g0015 a0016c0010t0001g0062 a0017c0029t0001g0151 a0017c0030t0001g0152 a0018c0047t0003g0013 a0018c0052t0003g0014 a0019c0014t0001g0108 a0019c0014t0005g0107 a0020c0065t0002g0033 a0020c0066t0003g0019 a0021c0041t0001g0128 a0021c0042t0001g0143 a0023c0086t0001g0069 a0025c0027t0008g0090 a0027c0084t0001g0099 a0028c0062t0001g0032 a0029c0080t0001g0011 a0030c0060t0003g0158 a0031c0079t0001g0012 a0032c0049t0001g0066 a0033c0058t0003g0060 a0035c0078t0001g0018 a0036c0032t0001g0135 a0037c0092t0001g0078 a0038c0085t0002g0084 a0039c0021t0001g0137 a0040c0054t0001g0142 a0041c0090t0004g0101 a0042c0022t0001g0141 a0043c0045t0001g0005 a0046c0089t0001g0068 a0047c0043t0001g0027 a0048c0094t0001g0080 a0049c0059t0001g0059 a0050c0024t0007g0154 a0051c0083t0001g0096 a0052c0082t0001g0097 a0053c0046t0003g0004 a0054c0048t0003g0065 a0056c0098t0003g0002 a0057c0093t0001g0139 a0058c0063t0001g0040 a0059c0050t0001g0150 a0060c0097t0001g0147 a0061c0073t0001g0157 a0062c0051t0001g0053 a0063c0026t0001g0081 a0064c0067t0001g0146 a0065c0053t0001g0017 a0066c0033t0001g0125 a0067c0088t0003g0088 a0068c0075t0001g0056 a0069c0064t0001g0031 a0070c0077t0001g0026 a0071c0074t0003g0156 a0072c0044t0003g0003 a0073c0096t0001g0145 a0074c0076t0001g0020 a0075c0087t0001g0105	140	156	0.8974	0	c.186 others(7): Show c.18625-7T>C		ADGRV1	ENSG00000164199.18	transcript	ENST00000405460.9	protein_coding	88/89					chr5	TogoVar
ADH1B_chr4_99299971_99326401	99310760	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02257.hp2 HG02280.hp2 HG02486.hp1 others(1): Show HG02257.hp2 HG02280.hp2 HG02486.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0045 a0001c0001t0046 others(1): Show a0001c0001t0039 a0001c0001t0045 a0001c0001t0046 a0001c0001t0048	a0001c0001t0039g0118 a0001c0001t0045g0116 a0001c0001t0046g0089 others(1): Show a0001c0001t0039g0118 a0001c0001t0045g0116 a0001c0001t0046g0089 a0001c0001t0048g0117	4	362	0.0110	0	c.110 others(6): Show c.1103+5A>G		ADH1B	ENSG00000196616.15	transcript	ENST00000305046.13	protein_coding	8/8					chr4	TogoVar
ADH1B_chr4_99299971_99326401	99318187	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp2 NA20129.hp1 HG01109.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0043 a0001c0001t0041 a0001c0001t0043	a0001c0001t0041g0044 a0001c0001t0043g0047 a0001c0001t0041g0044 a0001c0001t0043g0047	2	362	0.0055	0	c.121 others(5): Show c.121-3T>C		ADH1B	ENSG00000196616.15	transcript	ENST00000305046.13	protein_coding	2/8					chr4	TogoVar
ADH1C_chr4_99331497_99357746	99345173	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00280.hp1 HG00544.hp2 others(63): Show HG00140.hp1 HG00280.hp1 HG00544.hp2 HG00609.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG01070.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02015.hp2 HG02109.hp1 HG02148.hp1 HG02165.hp1 HG02257.hp1 HG02615.hp2 HG02622.hp1 HG02886.hp2 HG03098.hp2 HG03239.hp1 HG03490.hp2 HG03492.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp2 HG04228.hp2 HG06807.hp2 NA18747.hp2 NA18944.hp1 NA18947.hp2 NA18979.hp1 NA18983.hp1 NA18986.hp1 NA18987.hp2 NA18988.hp1 NA18990.hp2 NA18999.hp2 NA19005.hp1 NA19082.hp2 NA19086.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1	a0002 a0004 a0002 a0004	a0002c0003 a0002c0004 a0002c0006 others(1): Show a0002c0003 a0002c0004 a0002c0006 a0004c0008	a0002c0003t0001 a0002c0004t0002 a0002c0006t0001 others(1): Show a0002c0003t0001 a0002c0004t0002 a0002c0006t0001 a0004c0008t0001	a0002c0003t0001g0004 a0002c0003t0001g0011 a0002c0003t0001g0024 others(23): Show a0002c0003t0001g0004 a0002c0003t0001g0011 a0002c0003t0001g0024 a0002c0003t0001g0144 a0002c0003t0001g0145 a0002c0003t0001g0146 a0002c0003t0001g0147 a0002c0003t0001g0149 a0002c0003t0001g0150 a0002c0003t0001g0151 a0002c0003t0001g0152 a0002c0003t0001g0153 a0002c0003t0001g0154 a0002c0003t0001g0155 a0002c0003t0001g0156 a0002c0003t0001g0157 a0002c0003t0001g0161 a0002c0004t0002g0007 a0002c0004t0002g0008 a0002c0004t0002g0039 a0002c0004t0002g0040 a0002c0004t0002g0041 a0002c0004t0002g0042 a0002c0004t0002g0043 a0002c0006t0001g0038 a0004c0008t0001g0148	66	358	0.1844	0	c.347 others(5): Show c.347+6T>C		ADH1C	ENSG00000248144.6	transcript	ENST00000515683.6	protein_coding	4/8					chr4	TogoVar
ADH4_chr4_99118658_99149297	99124464	A A	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0081 a0001c0007t0001g0081	1	336	0.0030	0	c.112 others(4): Show c.1121T>G	p.Val others(6): Show p.Val374Gly	ADH4	ENSG00000198099.10	transcript	ENST00000265512.12	protein_coding	9/9	1196/2002	1121/1143	374/380		chr4	TogoVar
ADH4_chr4_99118658_99149297	99124465	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(300): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.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 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 others(5): Show a0001 a0003 a0004 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0001c0007 a0003c0004 others(6): Show a0001c0001 a0001c0007 a0003c0004 a0004c0005 a0005c0008 a0006c0010 a0007c0006 a0008c0011 a0009c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0007t0001 a0003c0004t0001 a0004c0005t0001 a0005c0008t0001 a0006c0010t0003 a0007c0006t0001 a0008c0011t0001 a0009c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(79): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0003g0008 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0057 a0001c0001t0004g0094 a0001c0001t0005g0092 a0001c0001t0006g0052 a0001c0007t0001g0081 a0003c0004t0001g0015 a0004c0005t0001g0027 a0005c0008t0001g0082 a0006c0010t0003g0058 a0007c0006t0001g0095 a0008c0011t0001g0055 a0009c0009t0001g0070	303	336	0.9018	0	c.112 others(4): Show c.1120G>A	p.Val others(6): Show p.Val374Ile	ADH4	ENSG00000198099.10	transcript	ENST00000265512.12	protein_coding	9/9	1195/2002	1120/1143	374/380		chr4	TogoVar
ADH4_chr4_99118658_99149297	99126739	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02257.hp1 HG02280.hp2 HG02486.hp2 others(12): Show HG02257.hp1 HG02280.hp2 HG02486.hp2 HG02559.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02965.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp2 NA19030.hp2 NA19240.hp1 NA20300.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0003 a0006c0010t0003 a0001c0001t0003 a0006c0010t0003	a0001c0001t0003g0008 a0001c0001t0003g0022 a0001c0001t0003g0023 others(3): Show a0001c0001t0003g0008 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0057 a0006c0010t0003g0058	15	335	0.0448	0	c.980 others(5): Show c.980-7A>T		ADH4	ENSG00000198099.10	transcript	ENST00000265512.12	protein_coding	7/8					chr4	TogoVar
ADH5_chr4_99065978_99093788	99072718	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00741.hp2 HG01069.hp1 HG01074.hp2 others(12): Show HG00741.hp2 HG01069.hp1 HG01074.hp2 HG01106.hp1 HG01261.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG02300.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG03209.hp1 NA20129.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0014 a0001c0001t0003g0020 others(6): Show a0001c0001t0003g0010 a0001c0001t0003g0014 a0001c0001t0003g0020 a0001c0001t0003g0048 a0001c0001t0003g0062 a0001c0001t0003g0067 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0074	15	334	0.0449	0	c.962 others(5): Show c.962-7C>A		ADH5	ENSG00000197894.12	transcript	ENST00000296412.14	protein_coding	7/8					chr4	TogoVar
ADH7_chr4_99407263_99440342	99420534	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01070.hp1 HG01070.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0002 a0005c0009t0002	a0005c0009t0002g0121 a0005c0009t0002g0121	1	414	0.0024	0	c.824 others(3): Show c.824T>C	p.Met others(6): Show p.Met275Thr	ADH7	ENSG00000196344.12	transcript	ENST00000437033.7	protein_coding	6/9	933/2119	824/1125	275/374		chr4	TogoVar
ADH7_chr4_99407263_99440342	99428636	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00642.hp2 HG03239.hp2 HG00642.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	2	414	0.0048	0	c.121 others(5): Show c.121-6A>G		ADH7	ENSG00000196344.12	transcript	ENST00000437033.7	protein_coding	2/8					chr4	TogoVar
ADH7_chr4_99407263_99440342	99429641	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	414	0.0024	0	c.19- others(4): Show c.19-8T>G		ADH7	ENSG00000196344.12	transcript	ENST00000437033.7	protein_coding	1/8					chr4	TogoVar
ADHFE1_chr8_66427504_66473907	66456812	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03710.hp2 HG03942.hp1 HG03710.hp2 HG03942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0031 a0002c0002t0002g0031	2	400	0.0050	0	c.987 others(5): Show c.987-5T>C		ADHFE1	ENSG00000147576.17	transcript	ENST00000396623.8	protein_coding	10/13					chr8	TogoVar
ADI1_chr2_3492366_3524531	3513980	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02622.hp1 HG02818.hp2 HG03471.hp2 others(8): Show HG02622.hp1 HG02818.hp2 HG03471.hp2 HG03579.hp1 NA18950.hp1 NA18960.hp2 NA18992.hp1 NA18995.hp1 NA19011.hp2 NA19055.hp2 NA19064.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0003c0004t0007	a0001c0001t0002g0236 a0001c0001t0004g0065 a0001c0001t0007g0029 others(6): Show a0001c0001t0002g0236 a0001c0001t0004g0065 a0001c0001t0007g0029 a0001c0001t0007g0078 a0001c0001t0007g0079 a0001c0001t0007g0080 a0001c0001t0007g0081 a0001c0001t0007g0082 a0003c0004t0007g0028	11	390	0.0282	0	c.121 others(5): Show c.121-4T>G		ADI1	ENSG00000182551.14	transcript	ENST00000327435.11	protein_coding	1/3					chr2	TogoVar
ADIG_chr20_38576197_38593463	38588462	T T	C C	splice_region_variant splice_region_variant	LOW	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	370	0.0027	0	c.37 others(4): Show c.376T>C		ADIG	ENSG00000182035.13	transcript	ENST00000537425.3	protein_coding	3/3					chr20	TogoVar
ADIPOR1_chr1_202935832_202963312	202951172	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(307): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0002t0004 a0001c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 others(111): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0090 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0010 a0001c0001t0002g0021 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0077 a0001c0001t0002g0082 a0001c0001t0002g0086 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0156 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0003g0001 a0001c0001t0003g0014 a0001c0001t0003g0039 a0001c0001t0003g0068 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0005g0029 a0001c0001t0005g0158 a0001c0001t0008g0102 a0001c0001t0009g0155 a0001c0001t0010g0170 a0001c0001t0011g0058 a0001c0001t0013g0103 a0001c0001t0014g0085 a0001c0002t0004g0031 a0001c0002t0004g0172 a0001c0003t0001g0044	310	440	0.7045	0	c.-94 others(5): Show c.-94-8T>G		ADIPOR1	ENSG00000159346.13	transcript	ENST00000340990.10	protein_coding	1/7					chr1	TogoVar
ADK_chr10_74146221_74714290	74224533	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	198	0.0051	0	c.141 others(5): Show c.141-5T>C		ADK	ENSG00000156110.15	transcript	ENST00000539909.6	protein_coding	2/10					chr10	TogoVar
ADK_chr10_74146221_74714290	74589262	CT CT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01243.hp2 HG02055.hp2 HG02559.hp2 others(11): Show HG01243.hp2 HG02055.hp2 HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02886.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp2 HG03239.hp2 NA18906.hp1 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0001 a0001c0002t0004	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0089 others(11): Show a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0182 a0001c0001t0001g0194 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0020 a0001c0002t0001g0080 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0004g0101	14	198	0.0707	-1	c.727 others(6): Show c.727-8delT		ADK	ENSG00000156110.15	transcript	ENST00000539909.6	protein_coding	7/10				INFO_REALIGN_3_PRIME	chr10	TogoVar
ADM2_chr22_50476543_50491437	50481957	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19091.hp1 NA19091.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0009 a0005c0006t0009	a0005c0006t0009g0001 a0005c0006t0009g0001	1	444	0.0023	0	c.110 others(3): Show c.110G>T	p.Arg others(5): Show p.Arg37Met	ADM2	ENSG00000128165.9	transcript	ENST00000395737.2	protein_coding	2/3	342/4213	110/447	37/148		chr22	TogoVar
ADM_chr11_10300073_10312397	10307395	T T	C C	splice_region_variant splice_region_variant	LOW	NA19009.hp2 NA19074.hp2 NA19009.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0001 a0001c0001t0006g0001	2	406	0.0049	0	c.75 others(4): Show c.754T>C		ADM	ENSG00000148926.10	transcript	ENST00000278175.10	protein_coding	4/4					chr11	TogoVar
ADNP2_chr18_80104262_80145346	80133196	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02818.hp2 HG02965.hp2 HG06807.hp1 others(1): Show HG02818.hp2 HG02965.hp2 HG06807.hp1 NA19043.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0022 a0007c0014 a0001c0001 a0001c0022 a0007c0014	a0001c0001t0001 a0001c0022t0001 a0007c0014t0001 a0001c0001t0001 a0001c0022t0001 a0007c0014t0001	a0001c0001t0001g0022 a0001c0001t0001g0202 a0001c0022t0001g0022 others(1): Show a0001c0001t0001g0022 a0001c0001t0001g0202 a0001c0022t0001g0022 a0007c0014t0001g0022	4	386	0.0104	0	c.198 others(5): Show c.198+4T>G		ADNP2	ENSG00000101544.9	transcript	ENST00000262198.9	protein_coding	3/3					chr18	TogoVar
ADNP_chr20_50883918_50936437	50904847	A A	T T	splice_region_variant splice_region_variant	LOW	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0049 a0001c0002t0049	a0001c0002t0049g0025 a0001c0002t0049g0025	1	356	0.0028	0	c.-87 others(3): Show c.-87T>A		ADNP	ENSG00000101126.18	transcript	ENST00000621696.5	protein_coding	3/6					chr20	TogoVar
ADNP_chr20_50883918_50936437	50904848	T T	A A	splice_region_variant splice_region_variant	LOW	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0049 a0001c0002t0049	a0001c0002t0049g0025 a0001c0002t0049g0025	1	356	0.0028	0	c.-88 others(3): Show c.-88A>T		ADNP	ENSG00000101126.18	transcript	ENST00000621696.5	protein_coding	3/6					chr20	TogoVar
ADORA1_chr1_203122726_203172405	203165257	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0342 a0001c0001t0020g0342	1	406	0.0025	0	c.342 others(5): Show c.342-4C>G		ADORA1	ENSG00000163485.18	transcript	ENST00000337894.9	protein_coding	3/3					chr1	TogoVar
ADPGK_chr15_72746294_72788758	72756446	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01952.hp2 HG01993.hp1 HG02273.hp1 HG01952.hp2 HG01993.hp1 HG02273.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0190 a0001c0005t0001g0193 a0001c0005t0001g0194 a0001c0005t0001g0190 a0001c0005t0001g0193 a0001c0005t0001g0194	3	368	0.0082	0	c.645 others(3): Show c.645G>A	p.Gly others(6): Show p.Gly215Gly	ADPGK	ENSG00000159322.18	transcript	ENST00000456471.3	protein_coding	5/7	712/2608	645/1494	215/497		chr15	TogoVar
ADPRHL1_chr13_113394611_113458488	113395851	TCCAGGCT others(4328): Show TCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCGCCT ACCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCCGGAACCA CAGGCACCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTGTTAGCCAGGATGGTCTCTATCTCCTGACCTCGTGA TCCGCCTTTCTTGGCCTCCCAAAGTGCTGGGATAACAGGCGTGAGCCACC GCGCCCGGCCCCCTGTGTTTTCTTGAGTGCAGGGGGCAGAATCCATCCTG GGGAATTTGAGCAGAAAGGGACATGGTGAGCAGTGTGACAGCTCCCAGCT CCTTGCAGGACTAGAGGAAAGGCCTCCAAGCCCAGCTCTGCACTGGCTAA TGAGCTTCCTTCTCTCAGCTTCCCTGGAAACATCTTTCTCTGCACACCCA GGAGACTCCATATCACCGGCTCGTCCTCACCGTGGGCCCAGAACCTGCTG TGCCCTGCCGGCCTGGGGAGGTTGCGTCTCCCTGGCAGAGCTGCATGCGT CCCAGCAGCAAGGAAGGCTGGGGATGTGGGATGTGGGACTGCCGTGCAGA GAGAAGACAGGATTCATGTTGTGGGGAGCTGTCAAAACGTAGAAAAATAG CCCCACTTTTGGGGCTCCCATGAAAGACTGGGGTCTTATTCATATGTTTG AGCCCCTTTGGAATTTGAAATGAAGCCGAGTTCCCTTCCTAACGACACAG AGCTCGCAGAAGCCGCCTCTTCTCTTGGGCGTCCACCGTCAGCTCTTTCT GGACTTTGTTCTTCCTGTATGTGTGCGGCTTCCTGCCGTTATCAAAGTCC AAGAATTTCATCAGTTTCTTATTTTGTTTTATTTTTTAACATTTTATTCA TTTTTTTTTAAGATACAAGATCTTGCTATGTTTCTAGGCTGGCCTCAAAC TCCGAGGCTTACGTGATCCCCCCACCTCAGCCTCCTGAGTAGCTGGGACC ACAGGTGCTGCCACCGCACCCGGCTTCTTGATTATTTTATCATCATCATT ATTGATTGAGCAATGGAAATCTGTAACTTATTTGGTGCTTTTTTTGGGTT CTTATTTCTTCAAGATTTGGAAAATTCTTCCCTACGTGCAGATTTGCTGG TGGGTTGAGCGCCTTCTTCCAGTTGGGGATTAAGACATGACTTCCAGTGG TACAGGCCGTAAGGAAACAGCCATCCAGAGAATTCAACAGCTCTTTCTCC GCTCTTCAATACAACATGACCTGTGGTCTTTTGTTCTTTTATTTTTTATT TTACTTTCATTTTTAAATAGAGACGGGGTCTCACTATGTTGCCCAGGCTG GTCTGGAACTCCTGGTCTCAAGTGGTGAGAAACAAACTCATCTGTCCAAA CCCAGAAGAAGGACTCGGAGACCCGGAGGAGAGTGAAAGGGAGACTTTCT TTCTTTCTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCGGCTGG AGTGCAGTGGCGTAATCTCGGCTCACTGCAACCTCTGCTTCCCGGGTCCA AGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCACA CCACCACACTCAGTTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACC ATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTGTGATCTGCCTGCCTC AGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCTGA AAGTGAGACTGTTGATGATGGTCTTGCAAGATCGGGTGTCTGATGGGCAG CCACAGCCAGCACAGTTTCAACAAATAATTTATCCCCTAGTGCACAGGTG TCTCCCCGGGTTCCTCACAGGCTGAGTACTCTGGGGTCACAGTCTTCTGG GACGTCACCTATTGGTTGTTGGGCAGGGGCTGTAGGTGTTTTTTTTAGGG GTGTCCTGTTGCATTTTGTTGCAGCCCACAATGCATTGCAATCCCAGTCA GCCCAGGGGCTCTTCAAGTATTTGACTTATGACCTAAGTAGCTGGGCAGG CTGATAAGAACAGACAAAGCCAGCTATTTTGCAGGCTAGTAAACTGTTAT CTTAGACTAAACTTCTTTAGTTCAGGTGAGAGCACCTAAGGGCCGGGGGG AAGGGAGGGAGAAGGGGAGGCCGGCAAGCAGGCACTGGCGATCCAGGCAG GGGCCTCGGACCTCCTGTTTCTTCTGTAGTTTGCTGACTTAAGCCGATTC AAGGCACTTTGTCTTGGAAACGGACCACTGTAGACACTGTTGCCTTCACT CCCCGCTTGGCCTCCTTTGTTCTTCTAGGAGAAGATGCCTCGGCACTTTC ACGAGTTTGGGGTGTGCACAGATGGGGCTTCTAGTAGGCTCCTGTGCCTT CGAGTGGCTTCCCAGACACCGCCTGGGGTTGTGGACCTGAGCCAGGCCAG TCCTCTCGCTGTCAGAGAAACGGCGTGCACTGCTCAGCTGCTCAGTCCTG GGCTTTGGGGGCTACGTGACATCCATTCCTGTCAAAAATCCATGGCGGCC ATAAAGATTCAGCAAATGCACCGACGCTCAAACAGACAAATGTCCCGGCA CTTCCTTTTGTGGTTGGGGCTTTTTCTTCTGTTCAGGGAAACATTTGTCT ACCCCAAGCTTATAACAATATCCCAAGAATGGGGTTTGATCAGACTTCTA TGTACACCAGTCTCACAGACGCCCTCAATAAGTGCTTTTAAAAGTTCTAG CCGGTCGCAGAGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGG CAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGATAACGTGGTG AAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTCTTGGCGG GCGCCTGTAGTCCCAGCTACTGAGGAGGCTGAGGCAGGACAGTGGCGTGA ACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCACGCCACTGCACTCCA GCCTGGGTGGCAGAGCGAGACTCCGTCTCAAAATAAATAAATGAAATAAA ATAAAATAAAAGTTCTAATGAAAGCCTGTGTCATAGCTTAATTGACAGGG GTTTTCTTTCAGGACAAGAGGTGCCTGCACCATCCCAAAGCCTCGGCTGC CGGGCCAGTGCTCTCAGACACGAGGCATCAGCTCGTTTCAGTGGAACAAG CTTTCCTCCTCACAAGATGCCAAGAACCCGCGCCACCCACGGGCACAGCA GGGGTTTGGAATGCAGGCATTCCCAGCTAGGTCTGGCGTGAGCTTAAACC ACCCGTTGTTAAATCCTCATGAAAAGTCACTTACAAAGTTCTCCTGCATA CAGAGTAGTGGAGGGCAGAGGGTGTCTCACAGGCCTGCTGGGCCCGTTGC ACCCATACTCCTTCCCTCCCTTCTGTCCAGTCTCCCTCCGTGTCCCAGAG GACACCCCAGCCCTTTGGCCCCCCGCGGCCCAGGTGCAGTGGCCGAAGTC CAGCTCCCTGGGTCTTGCTCCGAGGCCGGCACAGTCTTGACTGGACCAAG AGAGGGTCTGGGGAGTGCATGGCCTTGTCTCTCTAAGCACATCCTAAGGA GTTCTCCTCCCACTTGGGGCCTTGCCCCAGACCCTCCCTCCTGCCCAGGA TCACTGCTCCAGGCTGGCCACATTCACCCGATGGGGGCTCTGCCCCTCGC CCCAGGCCTGAGTCCTACTTCATTTATGCGGCTGCTTCAACAATGCAAGG AAGAGATTTGTAATGGGAAAGGTATTTTATTTCTTTTTGAAATTATTTCC AGCTGAATGATGTTAGTAAAAATACAGAGAGAATACAACAAATGACATTT AGTAATTTTTTCTGACTAACCCATTTTAGGGTTGTTTATATACAAAGAAG AATATGAACAAGAACAAATTTAATAAATAGCTGTAGCCTAATACACAACC GAAAGACCGTAACTCCAACAGCAGAGATACCCTGAGAACAGAATAAGGAG GTGGTGCTGAGCGTGTAAAATCCCAGACAACGACCCTCCCTGAGCGAGTG TCCTGAACATGACCACATTCTCGTCGCCGTCTCGGGACCTTCCTGCCGCC TGAGTGCACCGCCTCCCGCCCGGCTGTTGTCACTTGCACCCACAGACCTG CGGCTCACAGTGGGCCTGTCGACAGCCGGAGGCACCGTAAAAAACTGCAG GGAGGAGGCAGTCAACGAGTCGCTCAACTACACAAAATTAATGATGTTAA CTAAGAAGCTAAAATAAATATCCTGTTTTCTTTTCTTTTCTTTTCTTCTT TTTTTTTTTTTTTTTGACGGAGTCTCGCTCTGTCAC	T T	splice_region_variant splice_region_variant	LOW	HG02135.hp2 HG02135.hp2	a0015 a0015	a0015c0051 a0015c0051	a0015c0051t0105 a0015c0051t0105	a0015c0051t0105g0177 a0015c0051t0105g0177	1	244	0.0041	-4335	c.31 others(11): Show c.3192_*7526del		ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8					chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113431936	TGAACTCC others(8731): Show TGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCACCCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCTGGCCGTGAAATAATTTTTAAAA TATGAGTAGGAAATATATTAGCAAATGTTTTAGAAATTTAAATTATTAAC ACAGATTCTTGTGCTCATTACATTGTTTTCAAATGTCCAGCTTTTTTTTT GTTTTTGAGATAGGGCCTCGCCCTGTCGCCCAGGCTGCAGTGCAATGGCG CAAACACAGCTCACTGCAGCCCCAACATCCTGGGTTCAGGCGATCCTCCT ACATCAGTAGCTGGAAACACAGGTGCGTGCCGTCATGCCTGGCTAATTTT TAATTTTTTTGTAGAGATGGAGTCTCCCCGTGTTGCCCAGGCTGGTCTCG TACTCCTGGGCTCAAGTGATCCTCCTGCCTCTGCCTCCCAAAGTGCTGGG ATCACAGGTGTGAGCCGCTGCACCTGCACCTGGCAAATGCCCAACATTTT CGGGTCTGAAGGTTTTAATTTTTAATTTGCGCCCAGTTGCAGCACTCAGC TAGCAGGAGTCCAGCACTGCTCCCTTCTCAGCATCTGACTCTGGCCCACC AGTTGGGTCACGTGCCTTCCCTCTTTCATTTTAACGAGTTAGCAAAGTTG CCTGTGAGTCCACTGCTTAGGCCATCTGTCCCCAGGGTAGTAAAGGCACG CACCTGCTTTGCTGCAGACTCAGTGGGGGTGGGACGGCCAGGCCGGCAGA GCTGCGTGTTGATCGAAGGCCGGTTGCTCACCGCTGTTCTCACGGAGGGG TGGGCAGCTCTGCCCTCCTTGTTGGGATGCCAGTCACAGCAGATACCAAA AGGTAATCTTGAACGAGGCTAGCGTGGCTGTTGGATGTGCGTGGGACTGG GCGGTGCCAGGACTAAGGGCCAACTGCAGGTCAGGAGTTTTGAGTCCTTT TTGCTTTTTTTAAATGGAAGCCAACCGAGCCGCCTCCTCATTACCTTTCA AAGTCAGGCCTAGAGTCAGGCGCTACCGCAGCCACCCCAGCCTGGCCTCT CAGAGGCCTGCCCTCCACAGGACGGGCTGCGGACGGGGACAAATCCCAGT GAGCAGCTGGCCAGCTGGCACAGACCACAAGGACGGAAGTGCCGTGTTAA GGGGGCGACATGATCCAACCCGCTTCACCCTCACACAGCCCGATTTGGGG GTGTGATTCACATGTGGCAGTCGCCCCGTTACAGGTTAGAAACCTGTGGC CCGTGGGGTGGAGCCGCTCCCGTGGTTCCCGTGGTCTCCTTGGCTCCCTT GGCCGGCGGGTGGTGGGGCCAACCCAGGGCACAGCAGGAAAATGCAGGAA GTATTGTACAAACCCTTGTCCCCAGGGTCCCCCCGATCCCACCTGCACCC AGGCACTGGTGCGTTTCTTTGTCTTTTGTTCTGACACAAATGATACCAAA ACCACTGAATTCTTCCCTTGCACAGTTTCTTCAACATCACCGTGCTTATC GCTAATCCTGCTTTTGGGCTGAAAACAGGCCTTAAGCAAAGCAGATTAAA AAATAAGCCAACTCCCCCAACAAATAAAAAAATCGATGTGAACCCACAAG ATTTCCAGCCCAGTGTCCCGGGCAGGGCGCCCTCACAGCAGGCAGCCGGC AGGTGCAGGGTCAGCTTCTGTCTCCTTTAAGCAGACGTGCAGATGGCGGC AGCTCCAGGCCCCCGCCCCCCACCCCACACTTAACCTGTGAGGTGGTTGT GGGTCATCCGGCCGCACTCCACGCTGACCTCCCTCCCACCCCCCGCCCAC ACTTACCTGTGGGATGGTTGTGGGTCATCCGGCCGCACTCCACGCTGACC TCGATGAGGGTCTCCAGCCGCTCAGGCTTCCAGTACCGCAGGCCGATGCA CATGGCCTTGGTGGCCGCTCCAAACCCTGAGCCTGTGTGGAGAAGGAAGA GCTAGTTTAGACTTCTGCTCCAATAATTCCACCCCTGACAATCTAGCTTT CATGAATAATTTTAAAAGTAGAAAAATTTGTGTAATAACATGTTATCAGA GTGTGGTTTAAATGAGCGAGCCATGGGCAGGCCACTCAAGTCCTGCAGCA GAAAGGAGATGGGGCAAATTCGGTTGCATCCAAGTGTCGGGTGTTAGTCA CTAAAAACAGAACGTTTGATGGCCTGGAGATATGCTCGTGATTTGCAGCA TGCTTTCAACGAGATGTTTTCCCTGTAAAAACAGCTTCATTGAGTTATAA CTACATACAACAAACTAGGCATAATGAAACATGCACGACCCTAAGATTTT TATACTGGTGTACCGCGGGACCCAGCACCCAGGCGCAGGGTGAACATAGG TGTACCCCGGGACCCAGCATCCACACGTAGAGTGAACATAGGTGTACCCC GTGACCCAGCATCCAGGTGCAGGATGAACATAGGTGTACCCTGGGACCCA GCACCCAGGCGTAGAGTGAACATAGGTGTACCCTGGGACCCAGCACCCAG GCGTAGAGTGAACATAGGTGTACCCTGTGACCCAGCACCCACACGTAGAG TGAACATAGGTGTACCCCGGGACCCAGCATCCACATGTAGAGTGAACACA GGTGTACCCCGGGACCCGGCACCCAGGTGTAGAGTGAACACAGGTGTACC CCGGGACCCGGCACCCAGGTGTAGAGTGAACATAGGTGTACCCTGGGACC CAGCACCCACATGTAGAGTGAACACAGGTGTACCCCGGGACCCGGCACCC AGGTGTAGAGTGAACATAGGTGTACCCCGGGACCCGGCACCCAGGCGTAG AGTGAACATAGGTGTACCCTGGGACCCAGCACCCAGGCGTAGAGTGAACA TAGGTGTACCCCAGGACCCGGCACCCATGCATAGAGTGAACATAGGTGTA CCCCGGGACCCGGCACCCAGGTGTAGAGTGAACATAGGTGTACCCCGGGA CCCAGCACCCAGGTGTAGAGTGAACATAGGTGTACCCCGGGACCCGGCAC CCAGGTGTAGAGTGAACACAGGTGTACCCCGGGACCCGGCACCCAGGTGT AGAGTGAACATAGGTGTACCCCGGGACCCGGCACCCAGGTGTAGAGTGAA CATAGGTGTACCCCAGGACCCGGCACCCAGGTGTAGAGTGAACATAGGTG TACCCTGGGACCCAGCACCCAGGTGTAGAGTGAACATAGGTGTACCCCAG GACCCGGCACCCACGCATAGAGTGAACATAGGTGTACCCTGTGACCCAGC ACCGAGGCGTAGAGTGAACATAGGTGTACCCCGGGACCCAGCACCCAGGT GTAGAGTGAACACAGGTGTACCCCGGGACCCGGCACCCACGCATAGAGTG AACATAGGTGTACCCTGTGACCCAGCACCCAGGCGTAGAGTGAATATAGG TGTAGCCCGTGACCCAGCACCCAGGCGTAGAGTGAACATAGGTGTACCCC AGGACCTGGCACCCAGGTGTAGAGTGAACACAGGTGTACCCCGGGACCCA GCACCCAGGTGTAGAGTGAACATAGGTGTACCCCGGGACCCGGCACCCAG GTGTAGAGTGAACACAGGTGTACCCCGGGACCCAGCACCCAGGTGTAGGG TGAACATAGGTGTACCCCGGGACCCAGCACCCAGGTGTAGAGTGAACACA GGTGTACCCCGGGACCCAGCACCCAGGTGTAGAGTGAACACAGGTGTACC CCGGGACCCGGCACCCAGGTGTAGAGTGAACACAGGTGTACCCCGGGACC CGGCACCCAGGTGTAGAGTGAACACAGGTGTACCCCGGGACCCGGCACCC AGGTGTAGAGTGAACATAGGTGTACCCCGGGACCCGGCACCCAGGTGTAG AGTGAACACAGGTGTACCCCGGGACCCGGCACCCAGGTGTAGAGTGAACA TAGGTGTACCCCGGGACCCGGCACCCAGGTGTAGAGTGAACACAGGTGTA CCCCGGGACCCAGCACCCAGGTGTAGGGTGAACATAGGTGTACCCCGGGA CCTGGCACCCAGGTGCAGGGTGAATACAGGTGTACCCCGGGACCCAGCAC CCACATGTAGAGTGAACATAGGTGTACCCCGGGACCCAGCACCCAGGCAC AGAGTGAACATAGGTGTACCCTGGGACCCAGCACCCAGGTGTAGAGTGAA CATAGGTGTACCCCGGGACCCAGCATCCACACGTAGAGTGAACACAGGTG TACCCCGGGACCCGGCACCCAGGCGCAGGGTGAACATAGGTGTACCCCGG GACCCAGCATCCACACGTAGAGTGAACACAGGTGTACCCCGGGACCCGGC ACCCAGGTGTAGAGTGAACATAGGTGTACCCCAGGACCCGGCACCCACGC ATAGAGTGAACGTAGGTGTACCCTGTGACCCAGCACCCACACGTAGAGTG AACACAGGTGTACCCCGGGACCCAGCACCCAGGTGTAGGGTGAACATAGG TGTACCCCGGGACCCAGCACCCAGGTGTAGGGTGAACATAGGTGTACCCC GGGACCCGGCACCCAGGTGCAGGGTGAACATAGGTGTACCCCGGGACCCG GCACCCAGGTGTAGAGTGAACACAGGTGTACCCCGGGACCCGGCACCCAG GCGCAGGGTGAACATAGGTGTACCCCGGGACCCGGCACCCAGGTGTAGAG TGAACATAGGTGTACCCCGGGACCCGGCACCCAGGTGCAGGGTGAACATA GGTGTACCCCGGGACCCGGCACCCAGGTGTAGAGTGAACACAGGTGTACC CCGGGACCCAGCACCCAGGTGTAGGGTGAACATAGGTGTACCCCGGGACC CGGCACCCAGGTGCAGGGTGAACATAGGTGTACCCCGGGACCCGGCACCC AGGTGTAGAGTGAACACAGGTGTACCCCGGGACCCGGCACCCAGGCGCAG GGTGAACATAGGTGTACCCCGGGACCCGGCACCCAGGTGTAGAGTGAACA TAGGTGTACCCTGTGACCCAGCACCCACACGTAGAGTGAACATAGGTGTA CCCCGGGACCCAGCACCCAGGTGTAGAGTGAACATAGGTATACCCCGGGA CCCAGCACCCAGGTGTAGAGTGAGCATAGGTGTACCCTGGGACTCGGCAC CCAGGCGCAGGGTGAACATAGGTGTACCCCGGGACCCAGCACCCACACGT AGAGTGAACATAGGTGTACCCCGGGACCCAGCACCCACACGTAGAGTGAA CACAGGTGTACCCCGGGACCCAGCACCCACACGTAGAGTGAACATAGGTG TACCCCGGGACCCAGCACCCACACGTAGAGTGAACACAGGTGTACCCCGG GACCCGGCACCCACACATAGAGTGAACATAGGTGTACCCCGGGACCCAGC ACCCAGGCGCAGGGTGAACACAGGTGTACCCCATGACCCAGCACCCAGGT GTAGAGTGAACATAGGTGTACCCCAGGACCCAGCACCCAGGCGCAGGGTG AACACAGGTGTACCCCGGGACCCAGCACCCAGGTGCAGAGTGAATGCCTC TGTTGACCCTGAAGCCGCCGGTGCCCTCTGCAATCCGTCCTCCTGCCTCT CCCAAGCCCCACTGCTGCGACCGTGCGTGTTACTCGGCGTGTTCCAGGCC CTGTGTAAACAGAATCACGGAGAACGTGCCGTGCTTTCCGCCTGGCTTTT GTCACTCCTTATAACTGCTCTGAGAAGCGCCCACGTTGTTGGGGATCAAT AGTGATTCCTTTTTATGGCTGAATAGCTCCCTCTTGCATTGATCTGCCAT GGCTGCTCTATCTGCAGACCTGCAGTTTGGGCTGTGTCCAGTCTGGGGCT CTGAGCATGAGGCACCAGATCCTGGTGTGGACAGAGGCTCTCTTCTCTTG GGCGAATGCTGGGGCAGAGCCTCCAGATCACGTGGTGATGAATGTTTAAC TTTTTTGTTTGTTTGAGATGGAGTCTTGCTCTGTGGCCCAGGCTGGAGTG CAGCAGCCTAATCTTAGCTCAGTGCACCTCCGCCTGCCAGGTTCAAGCAG TTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACACACCACC ATGCCTGGCTAGTTTTTGTATTTTTAGCAGAGATGAGGTTTCACCTTGTT GGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCAGCCTGCCTTGGC CTCCCAAAGTGCTGGGATTACAGACATGAGCCACCACGCCTGGCAGAATG TTTAACTTTTAAAGAAACTGCCAAATGGGTTTCCAGAGTCAGAGTGGTAG AACCATTTGATGTCCCTCCAGTAGATCTTCCACAGCCCTGACAGCACTTG CTACATTTTTAAAAATTTTAGCCATTCTGTTAGTTATGTAATGGTATCTC ATTGTGGTTTTATTTGCATTTTTCTAATGACGGAAGATGGTGAGCATGAT TTTGTGCTTATTGTCCACCCATATATCTTCTTTGGAGAAGTTTTGCCCAT GTTTTATTCTTTTAAAAAAATTTTATAGTTGGGCATGGTGGCTTATGCCT GTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAGGTCAG GAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCTGTCTCTACTAAA AATACAAAAATTAAGTGGCATGGTGGCACGCACCTGTAGTCCCAGCTACT CTGGAGGCTGAGGCAGGCGAATTGCTTGAACCCAGGAGGTAGAGGTTGCA GTGAGCCGAGATTGTGCCACTGGGTGACAGAGCGAGACTCCATCTCAAAA AAAAAATTTCTTTTTTATAATAGAGATGGCATCTCAGTATGTTGCTCAGG CTGGGCTGGAACTCCTGGGTCCAAGTGATCCTCCTGGCTCAGTCTTCCAA CGTGCTGGGATTATAGGTGTGAGCCACCACACCTGGCCCTCTTGTCCATT TTTGTATGGGGTTGCTTGCTTTCTTCTTCTTAAGTTGGAAGAGTTCTTTA TGCATTTTGGACTCAAGTCCTTATCAGATATCTGCTTTGCAAATATTTTC TCCCAGCTTTGACTTGCCTTTTCATTCATTAAATAGAGTTTCCTGGAGAG CAGAAAAATGAATTTGGGAAGTATTCCTCTTCTTCAATCTTTTGGAAGAG TTATGTACAATTTATATTATTTATTCCTCAAACATTTGGTAAATACCCTG TGAAGCCATCAGGGACTGAAATTCTCTTTCCTTTTTTTTTTCTTTTTTTG AGACGGAGTCTCACTCTGACTCTGTTGCCCAGGCTGGAGTGCAATGGCAC AATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTTGTG CCTCAGCCTCCTGAATAGCTGGGACTACAGGTGTGCACCACCACGCCCAG CTAATTTTTGTATTTTTAGTAGAGGAGAGGGCTCACCATTTTGGCCAGGC TGGTCTCGAACTCCTGACCTCAGGTGATCTGCCGGCCTTGGCCTCCCAAA GTACTGGGATCACGGGTGTGAGCCACCGTGCCCAGCCTGGGCCTACAGTT TTCTTTGTATTTTTTTTTTTTTTTTTTTCCTGAGACGGCGTCTTGCTCTG TCGCCAGGCTGGAGTGCAGTGATGTGATCTCGGCTCACTGCAACATCCAC CTCCTGGGTTCAAGCAATTCTCCTGCTTCGGCCTCCTGAGTAGCTTGGAT TATAGGTGCCCACCACCATGTCTGGCTAATTTTTGTATTTTTAGTAGAGA CAGGGTTTTGCCATGTTGGCCAGCCTGGTCTCGAACACCTGACCTCAGGT GATCTACCCGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGTGTGAGCCA CCATGACTGGCCTTGTAATTTCTTCCATAAGATGTAATACTATTTAGATG ACCTTTCTCCTCTTGAGTGACCTTCGGTAGTTTATGTCTTTCAAAAACAT TTGTCCTTTTAATCTAAGTTGTTAAATGTATTGGCATAAAATTGTGAATA ATATTCCCTTATTTTCCTCTTAATTTCCGTAGACTCTGGTGATTTTACTC CTCTCGTTCATAGTGATGATTTGTCTTTCTCTTTTTTCCACATCAGTCTA GCTAGAGGATTCTCAATTGTTTTGATCTCCTGAAAGAACCAGCTTTTGGT TTTATTAATTTGCTCTACTCTTTTTCTGTTTTCAATCATTGATTTTCATG CTGATCTTCACTATTTTCTTTCTTCTGCTTTCTTTTGGCTTAGTTTGCTA TGAGTTTTCTGGTTTTAAAACGTGAAAATGAAAGCCAATGGCTGGAGACC TTCATGTTGAAATCACTGCCTATAACTGTGGGTTTCTCTAGTTCGCTTTG CAGCATTGTCAGTTTTTGCTTCATATATTCTGAAGATCTGTTATTAGGTA CAGAGACATCTAGGTTTGTTATGTCCCCCTGATGAACTGATCCATTTACT AGGATGAAATTACCTTCCTTATTCTTGGGAATATTCTTTGCTCCAAAATT TTACTGTATGTGTTACTAATATAGTAACTCCAGCTTTCTTTTGATTAGTG TTAGTGTGGTATATTTTTCCATCTTTTTTTTTTTTTTTGAGATGGAGTCT CACTCTGTGGCCTAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCA ACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGATTACAGGGGCATACCACCACACCCAGCAATTTTTGTATTTTTA GTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTC	T T	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG02083.hp2 HG02083.hp2	a0014 a0014	a0014c0054 a0014c0054	a0014c0054t0001 a0014c0054t0001	a0014c0054t0001g0091 a0014c0054t0001g0091	1	260	0.0038	-8738	c.379 others(17): Show c.379+3751_505+1805del		ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	3/8					chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113444420	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0096 a0002c0005t0096	a0002c0005t0096g0253 a0002c0005t0096g0253	1	260	0.0038	0	c.379 others(5): Show c.379+5G>C		ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	2/7					chr13	TogoVar
ADRM1_chr20_62297997_62313862	62307832	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(339): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0006 others(10): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0001c0009 a0001c0011 a0001c0016 a0002c0005 a0004c0015 a0005c0018 a0006c0013 a0007c0014 a0008c0012	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 a0001c0007t0001 a0001c0009t0001 a0001c0011t0001 a0001c0016t0001 a0002c0005t0001 a0004c0015t0001 a0005c0018t0001 a0006c0013t0001 a0007c0014t0001 a0008c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(65): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0003g0048 a0001c0002t0001g0005 a0001c0002t0001g0058 a0001c0002t0001g0062 a0001c0002t0002g0008 a0001c0002t0002g0028 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0063 a0001c0006t0001g0002 a0001c0006t0001g0003 a0001c0007t0001g0024 a0001c0009t0001g0029 a0001c0011t0001g0001 a0001c0016t0001g0061 a0002c0005t0001g0005 a0004c0015t0001g0001 a0005c0018t0001g0026 a0006c0013t0001g0001 a0007c0014t0001g0012 a0008c0012t0001g0006	342	366	0.9344	0	c.856 others(5): Show c.856+4A>G		ADRM1	ENSG00000130706.13	transcript	ENST00000253003.7	protein_coding	7/9					chr20	TogoVar

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