Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	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
ADAM22_chr7_87929251_88207889	88193219	G G	A A	missense_variant missense_variant	MODERATE	HG02258.hp2 HG02258.hp2	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0003 a0013c0015t0003	a0013c0015t0003g0031 a0013c0015t0003g0031	1	230	0.0044	c.285 others(4): Show c.2854G>A	p.Val others(6): Show p.Val952Met	ADAM22	ENSG00000008277.15	transcript	ENST00000413139.2	protein_coding	31/32	3069/9508	2854/2895	952/964	chr7	TogoVar
ADAM23_chr2_206438532_206626127	206445520	A A	G G	missense_variant missense_variant	MODERATE	HG02132.hp1 HG02132.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0005 a0005c0008t0005	a0005c0008t0005g0242 a0005c0008t0005g0242	1	358	0.0028	c.428 others(3): Show c.428A>G	p.Asn others(6): Show p.Asn143Ser	ADAM23	ENSG00000114948.13	transcript	ENST00000264377.8	protein_coding	2/26	763/6334	428/2499	143/832	chr2	TogoVar
ADAM23_chr2_206438532_206626127	206530907	G G	A A	missense_variant missense_variant	MODERATE	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0062 a0002c0003t0001g0062	1	358	0.0028	c.532 others(3): Show c.532G>A	p.Val others(6): Show p.Val178Met	ADAM23	ENSG00000114948.13	transcript	ENST00000264377.8	protein_coding	4/26	867/6334	532/2499	178/832	chr2	TogoVar
ADAM23_chr2_206438532_206626127	206559969	G G	C C	missense_variant missense_variant	MODERATE	HG03453.hp2 HG03453.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0013 a0003c0004t0013	a0003c0004t0013g0031 a0003c0004t0013g0031	1	358	0.0028	c.102 others(4): Show c.1020G>C	p.Gln others(6): Show p.Gln340His	ADAM23	ENSG00000114948.13	transcript	ENST00000264377.8	protein_coding	11/26	1355/6334	1020/2499	340/832	chr2	TogoVar
ADAM23_chr2_206438532_206626127	206596141	C C	G G	missense_variant missense_variant	MODERATE	HG04228.hp1 HG04228.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0044 a0004c0006t0001g0044	1	358	0.0028	c.233 others(4): Show c.2338C>G	p.Pro others(6): Show p.Pro780Ala	ADAM23	ENSG00000114948.13	transcript	ENST00000264377.8	protein_coding	24/26	2673/6334	2338/2499	780/832	chr2	TogoVar
ADAM28_chr8_24289069_24364014	24294172	T T	A A	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00140.hp1	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0028 a0010c0014t0028	a0010c0014t0028g0168 a0010c0014t0028g0168	1	348	0.0029	c.23T others(2): Show c.23T>A	p.Val others(4): Show p.Val8Asp	ADAM28	ENSG00000042980.14	transcript	ENST00000265769.9	protein_coding	1/23	104/7019	23/2328	8/775	chr8	TogoVar
ADAM28_chr8_24289069_24364014	24311367	T T	A A	missense_variant missense_variant	MODERATE	HG02630.hp1 HG02630.hp1	a0021 a0021	a0021c0015 a0021c0015	a0021c0015t0002 a0021c0015t0002	a0021c0015t0002g0225 a0021c0015t0002g0225	1	348	0.0029	c.313 others(3): Show c.313T>A	p.Cys others(6): Show p.Cys105Ser	ADAM28	ENSG00000042980.14	transcript	ENST00000265769.9	protein_coding	5/23	394/7019	313/2328	105/775	chr8	TogoVar
ADAM28_chr8_24289069_24364014	24313423	T T	C C	missense_variant missense_variant	MODERATE	HG03490.hp1 HG03490.hp1	a0020 a0020	a0020c0016 a0020c0016	a0020c0016t0003 a0020c0016t0003	a0020c0016t0003g0178 a0020c0016t0003g0178	1	348	0.0029	c.419 others(3): Show c.419T>C	p.Ile others(6): Show p.Ile140Thr	ADAM28	ENSG00000042980.14	transcript	ENST00000265769.9	protein_coding	6/23	500/7019	419/2328	140/775	chr8	TogoVar
ADAM28_chr8_24289069_24364014	24313447	G G	T T	missense_variant missense_variant	MODERATE	HG01891.hp1 HG02922.hp1 HG03195.hp1 others(1): Show HG01891.hp1 HG02922.hp1 HG03195.hp1 HG03540.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0002	a0005c0008t0002g0325 a0005c0008t0002g0326 a0005c0008t0002g0327 others(1): Show a0005c0008t0002g0325 a0005c0008t0002g0326 a0005c0008t0002g0327 a0005c0008t0002g0328	4	348	0.0115	c.443 others(3): Show c.443G>T	p.Arg others(6): Show p.Arg148Leu	ADAM28	ENSG00000042980.14	transcript	ENST00000265769.9	protein_coding	6/23	524/7019	443/2328	148/775	chr8	TogoVar
ADAM28_chr8_24289069_24364014	24313470	T T	C C	missense_variant missense_variant	MODERATE	HG02080.hp2 NA18970.hp2 NA19074.hp2 HG02080.hp2 NA18970.hp2 NA19074.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0003 a0008c0009t0003	a0008c0009t0003g0011 a0008c0009t0003g0182 a0008c0009t0003g0189 a0008c0009t0003g0011 a0008c0009t0003g0182 a0008c0009t0003g0189	3	348	0.0086	c.466 others(3): Show c.466T>C	p.Phe others(6): Show p.Phe156Leu	ADAM28	ENSG00000042980.14	transcript	ENST00000265769.9	protein_coding	6/23	547/7019	466/2328	156/775	chr8	TogoVar
ADAM28_chr8_24289069_24364014	24321225	G G	T T	missense_variant missense_variant	MODERATE	HG00733.hp2 HG00738.hp2 HG02055.hp2 others(15): Show HG00733.hp2 HG00738.hp2 HG02055.hp2 HG02145.hp2 HG02258.hp2 HG02486.hp1 HG02572.hp1 HG02615.hp2 HG02895.hp2 HG02922.hp2 HG03195.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp1 NA18906.hp2 NA19030.hp2	a0003 a0006 a0011 a0003 a0006 a0011	a0003c0005 a0003c0006 a0006c0010 others(2): Show a0003c0005 a0003c0006 a0006c0010 a0006c0028 a0011c0027	a0003c0005t0005 a0003c0005t0006 a0003c0006t0001 others(5): Show a0003c0005t0005 a0003c0005t0006 a0003c0006t0001 a0003c0006t0002 a0003c0006t0013 a0006c0010t0002 a0006c0028t0006 a0011c0027t0007	a0003c0005t0005g0245 a0003c0005t0005g0246 a0003c0005t0006g0239 others(15): Show a0003c0005t0005g0245 a0003c0005t0005g0246 a0003c0005t0006g0239 a0003c0005t0006g0240 a0003c0005t0006g0241 a0003c0005t0006g0242 a0003c0005t0006g0243 a0003c0006t0001g0279 a0003c0006t0002g0275 a0003c0006t0002g0276 a0003c0006t0002g0278 a0003c0006t0002g0280 a0003c0006t0013g0274 a0003c0006t0013g0277 a0006c0010t0002g0237 a0006c0010t0002g0238 a0006c0028t0006g0244 a0011c0027t0007g0018	18	348	0.0517	c.656 others(3): Show c.656G>T	p.Arg others(6): Show p.Arg219Met	ADAM28	ENSG00000042980.14	transcript	ENST00000265769.9	protein_coding	8/23	737/7019	656/2328	219/775	chr8	TogoVar
ADAM28_chr8_24289069_24364014	24335552	A A	G G	missense_variant missense_variant	MODERATE	HG01891.hp1 HG02055.hp1 HG02922.hp1 others(2): Show HG01891.hp1 HG02055.hp1 HG02922.hp1 HG03195.hp1 HG03540.hp2	a0005 a0019 a0005 a0019	a0005c0008 a0019c0032 a0005c0008 a0019c0032	a0005c0008t0002 a0019c0032t0033 a0005c0008t0002 a0019c0032t0033	a0005c0008t0002g0325 a0005c0008t0002g0326 a0005c0008t0002g0327 others(2): Show a0005c0008t0002g0325 a0005c0008t0002g0326 a0005c0008t0002g0327 a0005c0008t0002g0328 a0019c0032t0033g0248	5	348	0.0144	c.147 others(4): Show c.1478A>G	p.Asn others(6): Show p.Asn493Ser	ADAM28	ENSG00000042980.14	transcript	ENST00000265769.9	protein_coding	14/23	1559/7019	1478/2328	493/775	chr8	TogoVar
ADAM28_chr8_24289069_24364014	24339500	G G	C C	missense_variant missense_variant	MODERATE	NA19060.hp2 NA19060.hp2	a0018 a0018	a0018c0018 a0018c0018	a0018c0018t0035 a0018c0018t0035	a0018c0018t0035g0183 a0018c0018t0035g0183	1	348	0.0029	c.160 others(4): Show c.1602G>C	p.Arg others(6): Show p.Arg534Ser	ADAM28	ENSG00000042980.14	transcript	ENST00000265769.9	protein_coding	15/23	1683/7019	1602/2328	534/775	chr8	TogoVar
ADAM28_chr8_24289069_24364014	24339504	G G	A A	missense_variant missense_variant	MODERATE	NA18946.hp2 NA19080.hp1 NA18946.hp2 NA19080.hp1	a0016 a0017 a0016 a0017	a0016c0029 a0017c0030 a0016c0029 a0017c0030	a0016c0029t0002 a0017c0030t0004 a0016c0029t0002 a0017c0030t0004	a0016c0029t0002g0295 a0017c0030t0004g0315 a0016c0029t0002g0295 a0017c0030t0004g0315	2	348	0.0058	c.160 others(4): Show c.1606G>A	p.Glu others(6): Show p.Glu536Lys	ADAM28	ENSG00000042980.14	transcript	ENST00000265769.9	protein_coding	15/23	1687/7019	1606/2328	536/775	chr8	TogoVar
ADAM28_chr8_24289069_24364014	24339531	C C	T T	missense_variant missense_variant	MODERATE	HG02080.hp1 HG02080.hp1	a0012 a0012	a0012c0024 a0012c0024	a0012c0024t0003 a0012c0024t0003	a0012c0024t0003g0045 a0012c0024t0003g0045	1	348	0.0029	c.163 others(4): Show c.1633C>T	p.Arg others(6): Show p.Arg545Cys	ADAM28	ENSG00000042980.14	transcript	ENST00000265769.9	protein_coding	15/23	1714/7019	1633/2328	545/775	chr8	TogoVar
ADAM28_chr8_24289069_24364014	24341705	C C	A A	missense_variant missense_variant	MODERATE	HG00621.hp2 HG01167.hp1 HG01169.hp1 others(41): Show HG00621.hp2 HG01167.hp1 HG01169.hp1 HG01261.hp2 HG01891.hp1 HG01943.hp1 HG02071.hp2 HG02257.hp2 HG02486.hp1 HG02698.hp2 HG02809.hp1 HG02895.hp1 HG02922.hp1 HG02965.hp2 HG03195.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03669.hp2 HG03688.hp1 HG04204.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18963.hp1 NA18967.hp1 NA18968.hp2 NA18970.hp1 NA18982.hp2 NA18985.hp2 NA18990.hp2 NA18993.hp2 NA18999.hp1 NA19011.hp1 NA19030.hp2 NA19062.hp2 NA19064.hp2 NA19067.hp2 NA19077.hp1 NA19080.hp2 NA19087.hp1 NA21309.hp1 NA21309.hp2	a0002 a0005 a0006 others(1): Show a0002 a0005 a0006 a0007	a0002c0003 a0002c0007 a0002c0019 others(7): Show a0002c0003 a0002c0007 a0002c0019 a0002c0031 a0002c0033 a0005c0008 a0006c0010 a0006c0028 a0007c0011 a0007c0020	a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 others(18): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0008 a0002c0003t0029 a0002c0003t0031 a0002c0003t0045 a0002c0003t0046 a0002c0007t0002 a0002c0007t0003 a0002c0007t0026 a0002c0019t0006 a0002c0031t0002 a0002c0033t0008 a0005c0008t0002 a0006c0010t0002 a0006c0028t0006 a0007c0011t0002 a0007c0011t0006 a0007c0020t0023	a0002c0003t0001g0001 a0002c0003t0001g0250 a0002c0003t0001g0255 others(36): Show a0002c0003t0001g0001 a0002c0003t0001g0250 a0002c0003t0001g0255 a0002c0003t0001g0257 a0002c0003t0001g0262 a0002c0003t0002g0265 a0002c0003t0003g0013 a0002c0003t0003g0014 a0002c0003t0003g0252 a0002c0003t0003g0253 a0002c0003t0003g0258 a0002c0003t0003g0263 a0002c0003t0003g0264 a0002c0003t0003g0266 a0002c0003t0003g0268 a0002c0003t0004g0251 a0002c0003t0004g0254 a0002c0003t0008g0260 a0002c0003t0029g0261 a0002c0003t0031g0236 a0002c0003t0045g0273 a0002c0003t0046g0259 a0002c0007t0002g0124 a0002c0007t0003g0271 a0002c0007t0003g0272 a0002c0007t0026g0102 a0002c0019t0006g0226 a0002c0031t0002g0256 a0002c0033t0008g0267 a0005c0008t0002g0325 a0005c0008t0002g0326 a0005c0008t0002g0327 a0005c0008t0002g0328 a0006c0010t0002g0237 a0006c0010t0002g0238 a0006c0028t0006g0244 a0007c0011t0002g0019 a0007c0011t0006g0097 a0007c0020t0023g0247	44	348	0.1264	c.177 others(4): Show c.1778C>A	p.Thr others(6): Show p.Thr593Lys	ADAM28	ENSG00000042980.14	transcript	ENST00000265769.9	protein_coding	16/23	1859/7019	1778/2328	593/775	chr8	TogoVar
ADAM28_chr8_24289069_24364014	24349882	G G	A A	missense_variant missense_variant	MODERATE	HG02074.hp2 HG02074.hp2	a0013 a0013	a0013c0021 a0013c0021	a0013c0021t0001 a0013c0021t0001	a0013c0021t0001g0057 a0013c0021t0001g0057	1	348	0.0029	c.200 others(4): Show c.2009G>A	p.Gly others(6): Show p.Gly670Glu	ADAM28	ENSG00000042980.14	transcript	ENST00000265769.9	protein_coding	19/23	2090/7019	2009/2328	670/775	chr8	TogoVar
ADAM28_chr8_24289069_24364014	24349923	A A	G G	missense_variant missense_variant	MODERATE	HG02615.hp1 HG02615.hp1	a0015 a0015	a0015c0023 a0015c0023	a0015c0023t0002 a0015c0023t0002	a0015c0023t0002g0126 a0015c0023t0002g0126	1	348	0.0029	c.205 others(4): Show c.2050A>G	p.Met others(6): Show p.Met684Val	ADAM28	ENSG00000042980.14	transcript	ENST00000265769.9	protein_coding	19/23	2131/7019	2050/2328	684/775	chr8	TogoVar
ADAM28_chr8_24289069_24364014	24349925	G G	A A	missense_variant missense_variant	MODERATE	HG00621.hp2 HG01167.hp1 HG01169.hp1 others(39): Show HG00621.hp2 HG01167.hp1 HG01169.hp1 HG01261.hp2 HG01943.hp1 HG02015.hp2 HG02055.hp1 HG02071.hp2 HG02486.hp1 HG02698.hp2 HG02809.hp1 HG02965.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp2 HG04204.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18963.hp1 NA18967.hp1 NA18968.hp2 NA18970.hp1 NA18982.hp2 NA18985.hp2 NA18990.hp2 NA18993.hp2 NA18999.hp1 NA19011.hp1 NA19030.hp2 NA19062.hp2 NA19064.hp2 NA19067.hp2 NA19077.hp1 NA19080.hp2 NA19087.hp1 NA21309.hp1	a0002 a0006 a0009 others(3): Show a0002 a0006 a0009 a0016 a0019 a0020	a0002c0003 a0002c0007 a0002c0019 others(8): Show a0002c0003 a0002c0007 a0002c0019 a0002c0031 a0002c0033 a0006c0010 a0006c0028 a0009c0012 a0016c0029 a0019c0032 a0020c0016	a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 others(19): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0008 a0002c0003t0029 a0002c0003t0031 a0002c0003t0045 a0002c0003t0046 a0002c0007t0002 a0002c0007t0003 a0002c0007t0026 a0002c0019t0006 a0002c0031t0002 a0002c0033t0008 a0006c0010t0002 a0006c0028t0006 a0009c0012t0001 a0009c0012t0003 a0016c0029t0002 a0019c0032t0033 a0020c0016t0003	a0002c0003t0001g0001 a0002c0003t0001g0250 a0002c0003t0001g0255 others(34): Show a0002c0003t0001g0001 a0002c0003t0001g0250 a0002c0003t0001g0255 a0002c0003t0001g0257 a0002c0003t0001g0262 a0002c0003t0002g0265 a0002c0003t0003g0013 a0002c0003t0003g0014 a0002c0003t0003g0252 a0002c0003t0003g0253 a0002c0003t0003g0258 a0002c0003t0003g0263 a0002c0003t0003g0264 a0002c0003t0003g0266 a0002c0003t0003g0268 a0002c0003t0004g0251 a0002c0003t0004g0254 a0002c0003t0008g0260 a0002c0003t0029g0261 a0002c0003t0031g0236 a0002c0003t0045g0273 a0002c0003t0046g0259 a0002c0007t0002g0124 a0002c0007t0003g0271 a0002c0007t0003g0272 a0002c0007t0026g0102 a0002c0019t0006g0226 a0002c0031t0002g0256 a0002c0033t0008g0267 a0006c0010t0002g0237 a0006c0010t0002g0238 a0006c0028t0006g0244 a0009c0012t0001g0118 a0009c0012t0003g0212 a0016c0029t0002g0295 a0019c0032t0033g0248 a0020c0016t0003g0178	42	348	0.1207	c.205 others(4): Show c.2052G>A	p.Met others(6): Show p.Met684Ile	ADAM28	ENSG00000042980.14	transcript	ENST00000265769.9	protein_coding	19/23	2133/7019	2052/2328	684/775	chr8	TogoVar
ADAM28_chr8_24289069_24364014	24349959	A A	C C	missense_variant missense_variant	MODERATE	HG01891.hp1 HG02922.hp1 HG03195.hp1 others(1): Show HG01891.hp1 HG02922.hp1 HG03195.hp1 HG03540.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0002	a0005c0008t0002g0325 a0005c0008t0002g0326 a0005c0008t0002g0327 others(1): Show a0005c0008t0002g0325 a0005c0008t0002g0326 a0005c0008t0002g0327 a0005c0008t0002g0328	4	348	0.0115	c.208 others(4): Show c.2086A>C	p.Lys others(6): Show p.Lys696Gln	ADAM28	ENSG00000042980.14	transcript	ENST00000265769.9	protein_coding	19/23	2167/7019	2086/2328	696/775	chr8	TogoVar
ADAM28_chr8_24289069_24364014	24352045	C C	T T	missense_variant missense_variant	MODERATE	NA18968.hp1 NA18968.hp1	a0014 a0014	a0014c0022 a0014c0022	a0014c0022t0002 a0014c0022t0002	a0014c0022t0002g0185 a0014c0022t0002g0185	1	348	0.0029	c.223 others(4): Show c.2237C>T	p.Ala others(6): Show p.Ala746Val	ADAM28	ENSG00000042980.14	transcript	ENST00000265769.9	protein_coding	21/23	2318/7019	2237/2328	746/775	chr8	TogoVar
ADAM28_chr8_24289069_24364014	24353818	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(335): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.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 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.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 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 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 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.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.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021	a0001c0001 a0001c0002 a0001c0013 others(29): Show a0001c0001 a0001c0002 a0001c0013 a0001c0017 a0001c0025 a0001c0026 a0001c0034 a0002c0003 a0002c0007 a0002c0019 a0002c0031 a0002c0033 a0003c0005 a0003c0006 a0005c0008 a0006c0010 a0006c0028 a0007c0011 a0007c0020 a0008c0009 a0009c0012 a0010c0014 a0012c0024 a0013c0021 a0014c0022 a0015c0023 a0016c0029 a0017c0030 a0018c0018 a0019c0032 a0020c0016 a0021c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(83): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0001t0027 a0001c0001t0030 a0001c0001t0032 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0043 a0001c0001t0044 a0001c0001t0047 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 a0001c0002t0010 a0001c0002t0012 a0001c0002t0014 a0001c0013t0002 a0001c0013t0013 a0001c0017t0002 a0001c0025t0042 a0001c0026t0001 a0001c0034t0024 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0008 a0002c0003t0029 a0002c0003t0031 a0002c0003t0045 a0002c0003t0046 a0002c0007t0002 a0002c0007t0003 a0002c0007t0026 a0002c0019t0006 a0002c0031t0002 a0002c0033t0008 a0003c0005t0005 a0003c0005t0006 a0003c0006t0001 a0003c0006t0002 a0003c0006t0013 a0005c0008t0002 a0006c0010t0002 a0006c0028t0006 a0007c0011t0002 a0007c0011t0006 a0007c0020t0023 a0008c0009t0003 a0009c0012t0001 a0009c0012t0003 a0010c0014t0028 a0012c0024t0003 a0013c0021t0001 a0014c0022t0002 a0015c0023t0002 a0016c0029t0002 a0017c0030t0004 a0018c0018t0035 a0019c0032t0033 a0020c0016t0003 a0021c0015t0002	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 others(317): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0122 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0171 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0204 a0001c0001t0001g0215 a0001c0001t0002g0002 a0001c0001t0002g0020 a0001c0001t0002g0031 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0041 a0001c0001t0002g0047 a0001c0001t0002g0054 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0069 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0086 a0001c0001t0002g0091 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0125 a0001c0001t0002g0127 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0155 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0165 a0001c0001t0002g0170 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0199 a0001c0001t0002g0202 a0001c0001t0002g0205 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0220 a0001c0001t0002g0224 a0001c0001t0002g0228 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0003g0003 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0023 a0001c0001t0003g0025 a0001c0001t0003g0050 a0001c0001t0003g0059 a0001c0001t0003g0068 a0001c0001t0003g0080 a0001c0001t0003g0092 a0001c0001t0003g0120 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0158 a0001c0001t0003g0163 a0001c0001t0003g0166 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0184 a0001c0001t0003g0188 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0198 a0001c0001t0003g0203 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0223 a0001c0001t0003g0232 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0004g0051 a0001c0001t0004g0071 a0001c0001t0004g0082 a0001c0001t0004g0131 a0001c0001t0004g0153 a0001c0001t0004g0156 a0001c0001t0004g0193 a0001c0001t0005g0034 a0001c0001t0005g0095 a0001c0001t0005g0145 a0001c0001t0005g0151 a0001c0001t0005g0195 a0001c0001t0005g0196 a0001c0001t0005g0201 a0001c0001t0005g0213 a0001c0001t0005g0233 a0001c0001t0006g0038 a0001c0001t0006g0101 a0001c0001t0006g0141 a0001c0001t0008g0159 a0001c0001t0008g0200 a0001c0001t0009g0060 a0001c0001t0009g0134 a0001c0001t0009g0135 a0001c0001t0009g0214 a0001c0001t0009g0222 a0001c0001t0010g0017 a0001c0001t0010g0090 a0001c0001t0010g0169 a0001c0001t0010g0221 a0001c0001t0011g0106 a0001c0001t0011g0117 a0001c0001t0011g0119 a0001c0001t0012g0021 a0001c0001t0015g0150 a0001c0001t0015g0174 a0001c0001t0016g0004 a0001c0001t0017g0028 a0001c0001t0017g0167 a0001c0001t0018g0052 a0001c0001t0018g0067 a0001c0001t0019g0089 a0001c0001t0021g0157 a0001c0001t0022g0093 a0001c0001t0025g0219 a0001c0001t0027g0187 a0001c0001t0030g0006 a0001c0001t0032g0006 a0001c0001t0034g0197 a0001c0001t0036g0216 a0001c0001t0037g0088 a0001c0001t0038g0129 a0001c0001t0039g0104 a0001c0001t0040g0115 a0001c0001t0043g0022 a0001c0001t0044g0227 a0001c0001t0047g0036 a0001c0002t0001g0027 a0001c0002t0001g0281 a0001c0002t0001g0283 a0001c0002t0001g0285 a0001c0002t0001g0287 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0293 a0001c0002t0001g0294 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0300 a0001c0002t0001g0305 a0001c0002t0001g0309 a0001c0002t0001g0311 a0001c0002t0001g0313 a0001c0002t0001g0316 a0001c0002t0001g0317 a0001c0002t0001g0318 a0001c0002t0001g0321 a0001c0002t0001g0324 a0001c0002t0002g0015 a0001c0002t0002g0303 a0001c0002t0002g0310 a0001c0002t0002g0312 a0001c0002t0002g0320 a0001c0002t0003g0296 a0001c0002t0004g0235 a0001c0002t0004g0284 a0001c0002t0004g0286 a0001c0002t0004g0292 a0001c0002t0004g0299 a0001c0002t0004g0307 a0001c0002t0004g0314 a0001c0002t0004g0319 a0001c0002t0005g0234 a0001c0002t0005g0302 a0001c0002t0005g0308 a0001c0002t0008g0016 a0001c0002t0010g0282 a0001c0002t0012g0322 a0001c0002t0012g0323 a0001c0002t0014g0288 a0001c0002t0014g0301 a0001c0002t0014g0306 a0001c0013t0002g0173 a0001c0013t0013g0172 a0001c0017t0002g0130 a0001c0025t0042g0249 a0001c0026t0001g0114 a0001c0034t0024g0304 a0002c0003t0001g0001 a0002c0003t0001g0250 a0002c0003t0001g0255 a0002c0003t0001g0257 a0002c0003t0001g0262 a0002c0003t0002g0265 a0002c0003t0003g0013 a0002c0003t0003g0014 a0002c0003t0003g0252 a0002c0003t0003g0253 a0002c0003t0003g0258 a0002c0003t0003g0263 a0002c0003t0003g0264 a0002c0003t0003g0266 a0002c0003t0003g0268 a0002c0003t0004g0251 a0002c0003t0004g0254 a0002c0003t0008g0260 a0002c0003t0029g0261 a0002c0003t0031g0236 a0002c0003t0045g0273 a0002c0003t0046g0259 a0002c0007t0002g0124 a0002c0007t0003g0271 a0002c0007t0003g0272 a0002c0007t0026g0102 a0002c0019t0006g0226 a0002c0031t0002g0256 a0002c0033t0008g0267 a0003c0005t0005g0245 a0003c0005t0005g0246 a0003c0005t0006g0239 a0003c0005t0006g0240 a0003c0005t0006g0241 a0003c0005t0006g0242 a0003c0005t0006g0243 a0003c0006t0001g0279 a0003c0006t0002g0275 a0003c0006t0002g0276 a0003c0006t0002g0278 a0003c0006t0002g0280 a0003c0006t0013g0274 a0003c0006t0013g0277 a0005c0008t0002g0325 a0005c0008t0002g0326 a0005c0008t0002g0327 a0005c0008t0002g0328 a0006c0010t0002g0237 a0006c0010t0002g0238 a0006c0028t0006g0244 a0007c0011t0002g0019 a0007c0011t0006g0097 a0007c0020t0023g0247 a0008c0009t0003g0011 a0008c0009t0003g0182 a0008c0009t0003g0189 a0009c0012t0001g0118 a0009c0012t0003g0212 a0010c0014t0028g0168 a0012c0024t0003g0045 a0013c0021t0001g0057 a0014c0022t0002g0185 a0015c0023t0002g0126 a0016c0029t0002g0295 a0017c0030t0004g0315 a0018c0018t0035g0183 a0019c0032t0033g0248 a0020c0016t0003g0178 a0021c0015t0002g0225	338	348	0.9713	c.229 others(4): Show c.2293G>A	p.Val others(6): Show p.Val765Met	ADAM28	ENSG00000042980.14	transcript	ENST00000265769.9	protein_coding	22/23	2374/7019	2293/2328	765/775	chr8	TogoVar
ADAM29_chr4_174913358_174983180	174976088	G G	C C	missense_variant missense_variant	MODERATE	HG02074.hp1 HG02074.hp1	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0002 a0010c0011t0002	a0010c0011t0002g0259 a0010c0011t0002g0259	1	330	0.0030	c.563 others(3): Show c.563G>C	p.Ser others(6): Show p.Ser188Thr	ADAM29	ENSG00000168594.15	transcript	ENST00000359240.7	protein_coding	5/5	1233/3325	563/2463	188/820	chr4	TogoVar
ADAM29_chr4_174913358_174983180	174977404	C C	T T	missense_variant missense_variant	MODERATE	HG00408.hp2 HG00423.hp2 HG00438.hp2 others(31): Show HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00621.hp2 HG01975.hp2 HG02027.hp1 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02602.hp1 HG03704.hp1 HG03927.hp2 HG04184.hp1 HG04199.hp2 NA18612.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18950.hp1 NA18957.hp2 NA18971.hp2 NA18973.hp2 NA18977.hp2 NA18981.hp1 NA18984.hp1 NA18989.hp2 NA19065.hp2 NA19080.hp2 NA19083.hp2	a0003 a0009 a0010 a0003 a0009 a0010	a0003c0003 a0009c0017 a0010c0011 a0003c0003 a0009c0017 a0010c0011	a0003c0003t0001 a0003c0003t0002 a0009c0017t0002 others(1): Show a0003c0003t0001 a0003c0003t0002 a0009c0017t0002 a0010c0011t0002	a0003c0003t0001g0120 a0003c0003t0001g0130 a0003c0003t0001g0159 others(21): Show a0003c0003t0001g0120 a0003c0003t0001g0130 a0003c0003t0001g0159 a0003c0003t0001g0170 a0003c0003t0001g0171 a0003c0003t0001g0187 a0003c0003t0001g0192 a0003c0003t0001g0222 a0003c0003t0002g0001 a0003c0003t0002g0004 a0003c0003t0002g0023 a0003c0003t0002g0119 a0003c0003t0002g0167 a0003c0003t0002g0236 a0003c0003t0002g0239 a0003c0003t0002g0248 a0003c0003t0002g0250 a0003c0003t0002g0257 a0003c0003t0002g0261 a0003c0003t0002g0263 a0003c0003t0002g0265 a0003c0003t0002g0281 a0009c0017t0002g0282 a0010c0011t0002g0259	34	330	0.1030	c.187 others(4): Show c.1879C>T	p.Pro others(6): Show p.Pro627Ser	ADAM29	ENSG00000168594.15	transcript	ENST00000359240.7	protein_coding	5/5	2549/3325	1879/2463	627/820	chr4	TogoVar
ADAM29_chr4_174913358_174983180	174977693	G G	A A	missense_variant missense_variant	MODERATE	HG06807.hp1 HG06807.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0014 a0007c0012t0014	a0007c0012t0014g0031 a0007c0012t0014g0031	1	330	0.0030	c.216 others(4): Show c.2168G>A	p.Arg others(6): Show p.Arg723His	ADAM29	ENSG00000168594.15	transcript	ENST00000359240.7	protein_coding	5/5	2838/3325	2168/2463	723/820	chr4	TogoVar
ADAM29_chr4_174913358_174983180	174977783	A A	G G	missense_variant missense_variant	MODERATE	HG00639.hp2 HG01981.hp1 HG00639.hp2 HG01981.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0003 a0006c0010t0003	a0006c0010t0003g0051 a0006c0010t0003g0058 a0006c0010t0003g0051 a0006c0010t0003g0058	2	330	0.0061	c.225 others(4): Show c.2258A>G	p.Gln others(6): Show p.Gln753Arg	ADAM29	ENSG00000168594.15	transcript	ENST00000359240.7	protein_coding	5/5	2928/3325	2258/2463	753/820	chr4	TogoVar
ADAM29_chr4_174913358_174983180	174977816	C C	T T	missense_variant missense_variant	MODERATE	HG00639.hp2 HG01981.hp1 HG00639.hp2 HG01981.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0003 a0006c0010t0003	a0006c0010t0003g0051 a0006c0010t0003g0058 a0006c0010t0003g0051 a0006c0010t0003g0058	2	330	0.0061	c.229 others(4): Show c.2291C>T	p.Thr others(6): Show p.Thr764Ile	ADAM29	ENSG00000168594.15	transcript	ENST00000359240.7	protein_coding	5/5	2961/3325	2291/2463	764/820	chr4	TogoVar
ADAM29_chr4_174913358_174983180	174977832	A A	T T	missense_variant missense_variant	MODERATE	HG00639.hp2 HG01981.hp1 HG00639.hp2 HG01981.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0003 a0006c0010t0003	a0006c0010t0003g0051 a0006c0010t0003g0058 a0006c0010t0003g0051 a0006c0010t0003g0058	2	330	0.0061	c.230 others(4): Show c.2307A>T	p.Gln others(6): Show p.Gln769His	ADAM29	ENSG00000168594.15	transcript	ENST00000359240.7	protein_coding	5/5	2977/3325	2307/2463	769/820	chr4	TogoVar
ADAM29_chr4_174913358_174983180	174977837	G G	A A	missense_variant missense_variant	MODERATE	HG00639.hp2 HG01981.hp1 HG00639.hp2 HG01981.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0003 a0006c0010t0003	a0006c0010t0003g0051 a0006c0010t0003g0058 a0006c0010t0003g0051 a0006c0010t0003g0058	2	330	0.0061	c.231 others(4): Show c.2312G>A	p.Arg others(6): Show p.Arg771Gln	ADAM29	ENSG00000168594.15	transcript	ENST00000359240.7	protein_coding	5/5	2982/3325	2312/2463	771/820	chr4	TogoVar
ADAM29_chr4_174913358_174983180	174977839	G G	T T	missense_variant missense_variant	MODERATE	HG00639.hp2 HG01981.hp1 HG00639.hp2 HG01981.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0003 a0006c0010t0003	a0006c0010t0003g0051 a0006c0010t0003g0058 a0006c0010t0003g0051 a0006c0010t0003g0058	2	330	0.0061	c.231 others(4): Show c.2314G>T	p.Val others(6): Show p.Val772Leu	ADAM29	ENSG00000168594.15	transcript	ENST00000359240.7	protein_coding	5/5	2984/3325	2314/2463	772/820	chr4	TogoVar
ADAM29_chr4_174913358_174983180	174977843	T T	C C	missense_variant missense_variant	MODERATE	HG00639.hp2 HG01981.hp1 HG02818.hp2 HG00639.hp2 HG01981.hp1 HG02818.hp2	a0006 a0008 a0006 a0008	a0006c0010 a0008c0014 a0006c0010 a0008c0014	a0006c0010t0003 a0008c0014t0001 a0006c0010t0003 a0008c0014t0001	a0006c0010t0003g0051 a0006c0010t0003g0058 a0008c0014t0001g0175 a0006c0010t0003g0051 a0006c0010t0003g0058 a0008c0014t0001g0175	3	330	0.0091	c.231 others(4): Show c.2318T>C	p.Met others(6): Show p.Met773Thr	ADAM29	ENSG00000168594.15	transcript	ENST00000359240.7	protein_coding	5/5	2988/3325	2318/2463	773/820	chr4	TogoVar
ADAM29_chr4_174913358_174983180	174977870	T T	C C	missense_variant missense_variant	MODERATE	HG00639.hp1 HG00741.hp1 HG01109.hp1 others(23): Show HG00639.hp1 HG00741.hp1 HG01109.hp1 HG01433.hp1 HG02109.hp1 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02647.hp2 HG02723.hp2 HG02886.hp2 HG02895.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03209.hp2 HG03453.hp2 HG03516.hp1 NA18522.hp1 NA18906.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0004 a0004	a0004c0004 a0004c0015 a0004c0004 a0004c0015	a0004c0004t0001 a0004c0004t0002 a0004c0004t0004 others(4): Show a0004c0004t0001 a0004c0004t0002 a0004c0004t0004 a0004c0004t0006 a0004c0004t0009 a0004c0004t0010 a0004c0015t0002	a0004c0004t0001g0184 a0004c0004t0002g0025 a0004c0004t0002g0026 others(20): Show a0004c0004t0001g0184 a0004c0004t0002g0025 a0004c0004t0002g0026 a0004c0004t0002g0027 a0004c0004t0002g0034 a0004c0004t0002g0178 a0004c0004t0002g0228 a0004c0004t0002g0242 a0004c0004t0002g0267 a0004c0004t0002g0268 a0004c0004t0002g0269 a0004c0004t0002g0271 a0004c0004t0002g0272 a0004c0004t0002g0273 a0004c0004t0002g0274 a0004c0004t0002g0275 a0004c0004t0002g0276 a0004c0004t0004g0074 a0004c0004t0006g0050 a0004c0004t0009g0240 a0004c0004t0009g0241 a0004c0004t0010g0179 a0004c0015t0002g0229	26	330	0.0788	c.234 others(4): Show c.2345T>C	p.Met others(6): Show p.Met782Thr	ADAM29	ENSG00000168594.15	transcript	ENST00000359240.7	protein_coding	5/5	3015/3325	2345/2463	782/820	chr4	TogoVar
ADAM29_chr4_174913358_174983180	174977962	A A	G G	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02809.hp1 HG02630.hp2 HG02809.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0230 a0005c0007t0002g0234 a0005c0007t0002g0230 a0005c0007t0002g0234	2	330	0.0061	c.243 others(4): Show c.2437A>G	p.Ser others(6): Show p.Ser813Gly	ADAM29	ENSG00000168594.15	transcript	ENST00000359240.7	protein_coding	5/5	3107/3325	2437/2463	813/820	chr4	TogoVar
ADAM2_chr8_39738735_39843227	39746584	G G	C C	missense_variant missense_variant	MODERATE	HG01884.hp1 HG01884.hp1	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0001 a0010c0016t0001	a0010c0016t0001g0294 a0010c0016t0001g0294	1	329	0.0030	c.206 others(4): Show c.2062C>G	p.Pro others(6): Show p.Pro688Ala	ADAM2	ENSG00000104755.16	transcript	ENST00000265708.9	protein_coding	19/21	2104/2610	2062/2208	688/735	chr8	TogoVar
ADAM2_chr8_39738735_39843227	39749416	G G	A A	missense_variant missense_variant	MODERATE	HG01070.hp2 HG02040.hp2 HG01070.hp2 HG02040.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0008 a0004c0008t0001g0008	2	329	0.0061	c.191 others(4): Show c.1910C>T	p.Ala others(6): Show p.Ala637Val	ADAM2	ENSG00000104755.16	transcript	ENST00000265708.9	protein_coding	18/21	1952/2610	1910/2208	637/735	chr8	TogoVar
ADAM2_chr8_39738735_39843227	39755764	C C	A A	missense_variant missense_variant	MODERATE	HG01891.hp1 HG02615.hp2 HG01891.hp1 HG02615.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0006 a0006c0005t0001g0006	2	329	0.0061	c.176 others(4): Show c.1761G>T	p.Met others(6): Show p.Met587Ile	ADAM2	ENSG00000104755.16	transcript	ENST00000265708.9	protein_coding	16/21	1803/2610	1761/2208	587/735	chr8	TogoVar
ADAM2_chr8_39738735_39843227	39755887	T T	C C	missense_variant missense_variant	MODERATE	NA19004.hp2 NA19004.hp2	a0011 a0011	a0011c0017 a0011c0017	a0011c0017t0001 a0011c0017t0001	a0011c0017t0001g0125 a0011c0017t0001g0125	1	329	0.0030	c.163 others(4): Show c.1638A>G	p.Ile others(6): Show p.Ile546Met	ADAM2	ENSG00000104755.16	transcript	ENST00000265708.9	protein_coding	16/21	1680/2610	1638/2208	546/735	chr8	TogoVar
ADAM2_chr8_39738735_39843227	39767202	A A	G G	missense_variant missense_variant	MODERATE	HG01515.hp2 HG01517.hp1 HG01515.hp2 HG01517.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0007 a0005c0009t0001g0007	2	329	0.0061	c.126 others(4): Show c.1262T>C	p.Phe others(6): Show p.Phe421Ser	ADAM2	ENSG00000104755.16	transcript	ENST00000265708.9	protein_coding	13/21	1304/2610	1262/2208	421/735	chr8	TogoVar
ADAM2_chr8_39738735_39843227	39769403	C C	T T	missense_variant missense_variant	MODERATE	HG01891.hp1 HG02615.hp2 HG01891.hp1 HG02615.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0006 a0006c0005t0001g0006	2	329	0.0061	c.120 others(4): Show c.1201G>A	p.Gly others(6): Show p.Gly401Arg	ADAM2	ENSG00000104755.16	transcript	ENST00000265708.9	protein_coding	12/21	1243/2610	1201/2208	401/735	chr8	TogoVar
ADAM2_chr8_39738735_39843227	39769462	A A	G G	missense_variant missense_variant	MODERATE	NA18954.hp1 NA18998.hp2 NA19007.hp2 others(1): Show NA18954.hp1 NA18998.hp2 NA19007.hp2 NA19072.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0010 a0003c0003t0001g0174 a0003c0003t0001g0187 a0003c0003t0001g0010 a0003c0003t0001g0174 a0003c0003t0001g0187	4	329	0.0122	c.114 others(4): Show c.1142T>C	p.Phe others(6): Show p.Phe381Ser	ADAM2	ENSG00000104755.16	transcript	ENST00000265708.9	protein_coding	12/21	1184/2610	1142/2208	381/735	chr8	TogoVar
ADAM2_chr8_39738735_39843227	39788707	C C	T T	missense_variant missense_variant	MODERATE	HG02886.hp1 HG03486.hp1 HG02886.hp1 HG03486.hp1	a0007 a0007	a0007c0004 a0007c0004	a0007c0004t0001 a0007c0004t0001	a0007c0004t0001g0165 a0007c0004t0001g0166 a0007c0004t0001g0165 a0007c0004t0001g0166	2	329	0.0061	c.604 others(3): Show c.604G>A	p.Ala others(6): Show p.Ala202Thr	ADAM2	ENSG00000104755.16	transcript	ENST00000265708.9	protein_coding	8/21	646/2610	604/2208	202/735	chr8	TogoVar
ADAM2_chr8_39738735_39843227	39837167	C C	T T	missense_variant missense_variant	MODERATE	NA18999.hp2 NA18999.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0034 a0009c0013t0001g0034	1	329	0.0030	c.101 others(3): Show c.101G>A	p.Arg others(5): Show p.Arg34Gln	ADAM2	ENSG00000104755.16	transcript	ENST00000265708.9	protein_coding	2/21	143/2610	101/2208	34/735	chr8	TogoVar
ADAM2_chr8_39738735_39843227	39838152	C C	T T	missense_variant missense_variant	MODERATE	NA18961.hp2 NA18961.hp2	a0013 a0013	a0013c0012 a0013c0012	a0013c0012t0001 a0013c0012t0001	a0013c0012t0001g0021 a0013c0012t0001g0021	1	329	0.0030	c.34G others(2): Show c.34G>A	p.Gly others(5): Show p.Gly12Ser	ADAM2	ENSG00000104755.16	transcript	ENST00000265708.9	protein_coding	1/21	76/2610	34/2208	12/735	chr8	TogoVar
ADAM2_chr8_39738735_39843227	39838158	C C	A A	missense_variant missense_variant	MODERATE	HG02572.hp2 HG02809.hp2 HG03130.hp1 others(4): Show HG02572.hp2 HG02809.hp2 HG03130.hp1 HG03225.hp2 HG03471.hp1 HG03579.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0303 a0002c0002t0001g0304 a0002c0002t0001g0305 others(4): Show a0002c0002t0001g0303 a0002c0002t0001g0304 a0002c0002t0001g0305 a0002c0002t0001g0306 a0002c0002t0001g0307 a0002c0002t0001g0308 a0002c0002t0001g0309	7	329	0.0213	c.28G others(2): Show c.28G>T	p.Gly others(5): Show p.Gly10Trp	ADAM2	ENSG00000104755.16	transcript	ENST00000265708.9	protein_coding	1/21	70/2610	28/2208	10/735	chr8	TogoVar
ADAM2_chr8_39738735_39843227	39838168	A A	C C	missense_variant missense_variant	MODERATE	NA18992.hp1 NA19066.hp1 NA18992.hp1 NA19066.hp1	a0008 a0008	a0008c0010 a0008c0011 a0008c0010 a0008c0011	a0008c0010t0001 a0008c0011t0001 a0008c0010t0001 a0008c0011t0001	a0008c0010t0001g0020 a0008c0011t0001g0019 a0008c0010t0001g0020 a0008c0011t0001g0019	2	329	0.0061	c.18T others(2): Show c.18T>G	p.Phe others(4): Show p.Phe6Leu	ADAM2	ENSG00000104755.16	transcript	ENST00000265708.9	protein_coding	1/21	60/2610	18/2208	6/735	chr8	TogoVar
ADAM30_chr1_119888533_119901515	119893972	T T	C C	missense_variant missense_variant	MODERATE	HG02258.hp1 HG02258.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0002 a0008c0009t0002	a0008c0009t0002g0000 a0008c0009t0002g0000	1	388	0.0026	c.236 others(4): Show c.2365A>G	p.Lys others(6): Show p.Lys789Glu	ADAM30	ENSG00000134249.7	transcript	ENST00000369400.2	protein_coding	1/1	2544/2983	2365/2373	789/790	chr1	TogoVar
ADAM30_chr1_119888533_119901515	119894128	T T	C C	missense_variant missense_variant	MODERATE	HG00735.hp1 HG01109.hp1 HG01175.hp1 others(50): Show HG00735.hp1 HG01109.hp1 HG01175.hp1 HG01175.hp2 HG01361.hp2 HG01884.hp1 HG01952.hp1 HG02055.hp1 HG02109.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03239.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03540.hp1 HG03579.hp1 HG03710.hp1 HG03927.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 NA18950.hp1 NA18975.hp2 NA18977.hp1 NA19030.hp1 NA19030.hp2 NA19082.hp1 NA19086.hp1 NA19089.hp1 NA19240.hp2 NA20300.hp2	a0002 a0006 a0007 others(1): Show a0002 a0006 a0007 a0008	a0002c0002 a0002c0007 a0006c0010 others(2): Show a0002c0002 a0002c0007 a0006c0010 a0007c0008 a0008c0009	a0002c0002t0002 a0002c0007t0002 a0006c0010t0002 others(2): Show a0002c0002t0002 a0002c0007t0002 a0006c0010t0002 a0007c0008t0002 a0008c0009t0002	a0002c0002t0002g0000 a0002c0007t0002g0000 a0006c0010t0002g0000 others(2): Show a0002c0002t0002g0000 a0002c0007t0002g0000 a0006c0010t0002g0000 a0007c0008t0002g0000 a0008c0009t0002g0000	53	388	0.1366	c.220 others(4): Show c.2209A>G	p.Thr others(6): Show p.Thr737Ala	ADAM30	ENSG00000134249.7	transcript	ENST00000369400.2	protein_coding	1/1	2388/2983	2209/2373	737/790	chr1	TogoVar
ADAM30_chr1_119888533_119901515	119894856	C C	A A	missense_variant missense_variant	MODERATE	NA18959.hp1 NA18959.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0001 a0004c0012t0001	a0004c0012t0001g0000 a0004c0012t0001g0000	1	388	0.0026	c.148 others(4): Show c.1481G>T	p.Arg others(6): Show p.Arg494Leu	ADAM30	ENSG00000134249.7	transcript	ENST00000369400.2	protein_coding	1/1	1660/2983	1481/2373	494/790	chr1	TogoVar
ADAM30_chr1_119888533_119901515	119895133	A A	G G	missense_variant missense_variant	MODERATE	NA19059.hp2 NA19059.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0000 a0005c0011t0001g0000	1	388	0.0026	c.120 others(4): Show c.1204T>C	p.Cys others(6): Show p.Cys402Arg	ADAM30	ENSG00000134249.7	transcript	ENST00000369400.2	protein_coding	1/1	1383/2983	1204/2373	402/790	chr1	TogoVar
ADAM30_chr1_119888533_119901515	119895186	G G	A A	missense_variant missense_variant	MODERATE	HG00735.hp1 HG00735.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0002 a0006c0010t0002	a0006c0010t0002g0000 a0006c0010t0002g0000	1	388	0.0026	c.115 others(4): Show c.1151C>T	p.Ser others(6): Show p.Ser384Leu	ADAM30	ENSG00000134249.7	transcript	ENST00000369400.2	protein_coding	1/1	1330/2983	1151/2373	384/790	chr1	TogoVar

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