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
ADCY5_chr3_123277296_123454090	123448304	G G	A A	missense_variant missense_variant	MODERATE	NA18967.hp1 NA19058.hp2 NA18967.hp1 NA19058.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0001 a0004c0012t0001	a0004c0012t0001g0252 a0004c0012t0001g0253 a0004c0012t0001g0252 a0004c0012t0001g0253	2	260	0.0077	c.242 others(3): Show c.242C>T	p.Pro others(5): Show p.Pro81Leu	ADCY5	ENSG00000173175.16	transcript	ENST00000462833.6	protein_coding	1/21	787/6643	242/3786	81/1261	chr3	TogoVar
ADCY5_chr3_123277296_123454090	123448416	G G	A A	missense_variant missense_variant	MODERATE	NA19009.hp2 NA19009.hp2	a0008 a0008	a0008c0026 a0008c0026	a0008c0026t0002 a0008c0026t0002	a0008c0026t0002g0084 a0008c0026t0002g0084	1	260	0.0039	c.130 others(3): Show c.130C>T	p.His others(5): Show p.His44Tyr	ADCY5	ENSG00000173175.16	transcript	ENST00000462833.6	protein_coding	1/21	675/6643	130/3786	44/1261	chr3	TogoVar
ADCY5_chr3_123277296_123454090	123448491	C C	T T	missense_variant missense_variant	MODERATE	HG01257.hp1 HG01257.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0002 a0009c0014t0002	a0009c0014t0002g0001 a0009c0014t0002g0001	1	260	0.0039	c.55G others(2): Show c.55G>A	p.Ala others(5): Show p.Ala19Thr	ADCY5	ENSG00000173175.16	transcript	ENST00000462833.6	protein_coding	1/21	600/6643	55/3786	19/1261	chr3	TogoVar
ADCY5_chr3_123277296_123454090	123448517	G G	A A	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0001 a0003c0013t0001	a0003c0013t0001g0254 a0003c0013t0001g0255 a0003c0013t0001g0254 a0003c0013t0001g0255	2	260	0.0077	c.29C others(2): Show c.29C>T	p.Pro others(5): Show p.Pro10Leu	ADCY5	ENSG00000173175.16	transcript	ENST00000462833.6	protein_coding	1/21	574/6643	29/3786	10/1261	chr3	TogoVar
ADCY6_chr12_48761194_48794089	48772532	T T	C C	missense_variant missense_variant	MODERATE	HG00438.hp2 HG00438.hp2	a0009 a0009	a0009c0021 a0009c0021	a0009c0021t0001 a0009c0021t0001	a0009c0021t0001g0130 a0009c0021t0001g0130	1	304	0.0033	c.263 others(4): Show c.2633A>G	p.Asn others(6): Show p.Asn878Ser	ADCY6	ENSG00000174233.12	transcript	ENST00000357869.8	protein_coding	17/22	2821/6092	2633/3507	878/1168	chr12	TogoVar
ADCY6_chr12_48761194_48794089	48774437	C C	T T	missense_variant missense_variant	MODERATE	HG04228.hp2 HG04228.hp2	a0008 a0008	a0008c0020 a0008c0020	a0008c0020t0001 a0008c0020t0001	a0008c0020t0001g0186 a0008c0020t0001g0186	1	304	0.0033	c.224 others(4): Show c.2248G>A	p.Val others(6): Show p.Val750Ile	ADCY6	ENSG00000174233.12	transcript	ENST00000357869.8	protein_coding	14/22	2436/6092	2248/3507	750/1168	chr12	TogoVar
ADCY6_chr12_48761194_48794089	48775006	G G	T T	missense_variant missense_variant	MODERATE	HG02055.hp2 HG02257.hp1 HG02647.hp1 others(7): Show HG02055.hp2 HG02257.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 NA20129.hp2	a0002 a0006 a0002 a0006	a0002c0005 a0006c0015 a0002c0005 a0006c0015	a0002c0005t0001 a0006c0015t0001 a0002c0005t0001 a0006c0015t0001	a0002c0005t0001g0023 a0002c0005t0001g0088 a0002c0005t0001g0089 others(6): Show a0002c0005t0001g0023 a0002c0005t0001g0088 a0002c0005t0001g0089 a0002c0005t0001g0090 a0002c0005t0001g0091 a0002c0005t0001g0092 a0002c0005t0001g0093 a0002c0005t0001g0094 a0006c0015t0001g0095	10	304	0.0329	c.202 others(4): Show c.2029C>A	p.Leu others(6): Show p.Leu677Met	ADCY6	ENSG00000174233.12	transcript	ENST00000357869.8	protein_coding	12/22	2217/6092	2029/3507	677/1168	chr12	TogoVar
ADCY6_chr12_48761194_48794089	48775015	C C	A A	missense_variant missense_variant	MODERATE	HG01516.hp2 HG01891.hp1 HG02109.hp2 HG01516.hp2 HG01891.hp1 HG02109.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0036 a0003c0008t0001g0191 a0003c0008t0001g0036 a0003c0008t0001g0191	3	304	0.0099	c.202 others(4): Show c.2020G>T	p.Ala others(6): Show p.Ala674Ser	ADCY6	ENSG00000174233.12	transcript	ENST00000357869.8	protein_coding	12/22	2208/6092	2020/3507	674/1168	chr12	TogoVar
ADCY6_chr12_48761194_48794089	48776058	G G	A A	missense_variant missense_variant	MODERATE	HG00639.hp1 HG01192.hp2 HG00639.hp1 HG01192.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0050 a0004c0009t0001g0059 a0004c0009t0001g0050 a0004c0009t0001g0059	2	304	0.0066	c.171 others(4): Show c.1711C>T	p.Arg others(6): Show p.Arg571Trp	ADCY6	ENSG00000174233.12	transcript	ENST00000357869.8	protein_coding	9/22	1899/6092	1711/3507	571/1168	chr12	TogoVar
ADCY6_chr12_48761194_48794089	48776246	A A	G G	missense_variant missense_variant	MODERATE	HG03704.hp2 HG03704.hp2	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0007 a0010c0014t0007	a0010c0014t0007g0064 a0010c0014t0007g0064	1	304	0.0033	c.164 others(4): Show c.1640T>C	p.Ile others(6): Show p.Ile547Thr	ADCY6	ENSG00000174233.12	transcript	ENST00000357869.8	protein_coding	8/22	1828/6092	1640/3507	547/1168	chr12	TogoVar
ADCY6_chr12_48761194_48794089	48776286	G G	A A	missense_variant missense_variant	MODERATE	NA19030.hp1 NA19030.hp1	a0007 a0007	a0007c0023 a0007c0023	a0007c0023t0001 a0007c0023t0001	a0007c0023t0001g0179 a0007c0023t0001g0179	1	304	0.0033	c.160 others(4): Show c.1600C>T	p.Arg others(6): Show p.Arg534Cys	ADCY6	ENSG00000174233.12	transcript	ENST00000357869.8	protein_coding	8/22	1788/6092	1600/3507	534/1168	chr12	TogoVar
ADCY6_chr12_48761194_48794089	48782720	G G	C C	missense_variant missense_variant	MODERATE	HG01258.hp1 HG01258.hp1	a0011 a0011	a0011c0024 a0011c0024	a0011c0024t0001 a0011c0024t0001	a0011c0024t0001g0198 a0011c0024t0001g0198	1	304	0.0033	c.715 others(3): Show c.715C>G	p.Leu others(6): Show p.Leu239Val	ADCY6	ENSG00000174233.12	transcript	ENST00000357869.8	protein_coding	2/22	903/6092	715/3507	239/1168	chr12	TogoVar
ADCY6_chr12_48761194_48794089	48782810	A A	C C	missense_variant missense_variant	MODERATE	NA19063.hp2 NA19063.hp2	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0001 a0012c0017t0001	a0012c0017t0001g0125 a0012c0017t0001g0125	1	304	0.0033	c.625 others(3): Show c.625T>G	p.Trp others(6): Show p.Trp209Gly	ADCY6	ENSG00000174233.12	transcript	ENST00000357869.8	protein_coding	2/22	813/6092	625/3507	209/1168	chr12	TogoVar
ADCY6_chr12_48761194_48794089	48782811	C C	A A	missense_variant missense_variant	MODERATE	NA19063.hp2 NA19063.hp2	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0001 a0012c0017t0001	a0012c0017t0001g0125 a0012c0017t0001g0125	1	304	0.0033	c.624 others(3): Show c.624G>T	p.Met others(6): Show p.Met208Ile	ADCY6	ENSG00000174233.12	transcript	ENST00000357869.8	protein_coding	2/22	812/6092	624/3507	208/1168	chr12	TogoVar
ADCY6_chr12_48761194_48794089	48782812	A A	C C	missense_variant missense_variant	MODERATE	NA19063.hp2 NA19063.hp2	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0001 a0012c0017t0001	a0012c0017t0001g0125 a0012c0017t0001g0125	1	304	0.0033	c.623 others(3): Show c.623T>G	p.Met others(6): Show p.Met208Arg	ADCY6	ENSG00000174233.12	transcript	ENST00000357869.8	protein_coding	2/22	811/6092	623/3507	208/1168	chr12	TogoVar
ADCY6_chr12_48761194_48794089	48782831	T T	C C	missense_variant missense_variant	MODERATE	HG02647.hp1 HG02647.hp1	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0001 a0006c0015t0001	a0006c0015t0001g0095 a0006c0015t0001g0095	1	304	0.0033	c.604 others(3): Show c.604A>G	p.Ser others(6): Show p.Ser202Gly	ADCY6	ENSG00000174233.12	transcript	ENST00000357869.8	protein_coding	2/22	792/6092	604/3507	202/1168	chr12	TogoVar
ADCY6_chr12_48761194_48794089	48783022	C C	T T	missense_variant missense_variant	MODERATE	HG01361.hp1 HG01361.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0065 a0005c0012t0001g0065	1	304	0.0033	c.413 others(3): Show c.413G>A	p.Arg others(6): Show p.Arg138His	ADCY6	ENSG00000174233.12	transcript	ENST00000357869.8	protein_coding	2/22	601/6092	413/3507	138/1168	chr12	TogoVar
ADCY7_chr16_50261551_50323135	50290650	C C	T T	missense_variant missense_variant	MODERATE	HG02155.hp2 NA18967.hp2 NA19090.hp2 HG02155.hp2 NA18967.hp2 NA19090.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0003 a0005c0011t0001 a0005c0011t0003	a0005c0011t0001g0167 a0005c0011t0001g0173 a0005c0011t0003g0163 a0005c0011t0001g0167 a0005c0011t0001g0173 a0005c0011t0003g0163	3	338	0.0089	c.365 others(3): Show c.365C>T	p.Ala others(6): Show p.Ala122Val	ADCY7	ENSG00000121281.13	transcript	ENST00000673801.1	protein_coding	3/26	763/6271	365/3243	122/1080	chr16	TogoVar
ADCY7_chr16_50261551_50323135	50292755	G G	A A	missense_variant missense_variant	MODERATE	HG00423.hp1 NA19066.hp1 NA19074.hp1 HG00423.hp1 NA19066.hp1 NA19074.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0003 a0003c0009t0003	a0003c0009t0003g0113 a0003c0009t0003g0238 a0003c0009t0003g0266 a0003c0009t0003g0113 a0003c0009t0003g0238 a0003c0009t0003g0266	3	338	0.0089	c.617 others(3): Show c.617G>A	p.Arg others(6): Show p.Arg206Gln	ADCY7	ENSG00000121281.13	transcript	ENST00000673801.1	protein_coding	5/26	1015/6271	617/3243	206/1080	chr16	TogoVar
ADCY7_chr16_50261551_50323135	50300728	G G	T T	missense_variant missense_variant	MODERATE	HG02083.hp2 HG02083.hp2	a0012 a0012	a0012c0026 a0012c0026	a0012c0026t0001 a0012c0026t0001	a0012c0026t0001g0197 a0012c0026t0001g0197	1	338	0.0030	c.109 others(4): Show c.1090G>T	p.Ala others(6): Show p.Ala364Ser	ADCY7	ENSG00000121281.13	transcript	ENST00000673801.1	protein_coding	9/26	1488/6271	1090/3243	364/1080	chr16	TogoVar
ADCY7_chr16_50261551_50323135	50304430	C C	T T	missense_variant missense_variant	MODERATE	HG00738.hp2 HG03239.hp1 HG04199.hp1 HG00738.hp2 HG03239.hp1 HG04199.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0004 a0004c0010t0004	a0004c0010t0004g0215 a0004c0010t0004g0216 a0004c0010t0004g0241 a0004c0010t0004g0215 a0004c0010t0004g0216 a0004c0010t0004g0241	3	338	0.0089	c.143 others(4): Show c.1439C>T	p.Ala others(6): Show p.Ala480Val	ADCY7	ENSG00000121281.13	transcript	ENST00000673801.1	protein_coding	11/26	1837/6271	1439/3243	480/1080	chr16	TogoVar
ADCY7_chr16_50261551_50323135	50304537	G G	A A	missense_variant missense_variant	MODERATE	HG03486.hp2 HG03486.hp2	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0002 a0011c0016t0002	a0011c0016t0002g0137 a0011c0016t0002g0137	1	338	0.0030	c.154 others(4): Show c.1546G>A	p.Gly others(6): Show p.Gly516Arg	ADCY7	ENSG00000121281.13	transcript	ENST00000673801.1	protein_coding	11/26	1944/6271	1546/3243	516/1080	chr16	TogoVar
ADCY7_chr16_50261551_50323135	50304938	G G	A A	missense_variant missense_variant	MODERATE	HG04204.hp1 HG04204.hp1	a0007 a0007	a0007c0017 a0007c0017	a0007c0017t0006 a0007c0017t0006	a0007c0017t0006g0253 a0007c0017t0006g0253	1	338	0.0030	c.157 others(4): Show c.1574G>A	p.Arg others(6): Show p.Arg525His	ADCY7	ENSG00000121281.13	transcript	ENST00000673801.1	protein_coding	12/26	1972/6271	1574/3243	525/1080	chr16	TogoVar
ADCY7_chr16_50261551_50323135	50307078	G G	A A	missense_variant missense_variant	MODERATE	HG03139.hp1 HG03139.hp1	a0008 a0008	a0008c0018 a0008c0018	a0008c0018t0004 a0008c0018t0004	a0008c0018t0004g0011 a0008c0018t0004g0011	1	338	0.0030	c.178 others(4): Show c.1781G>A	p.Arg others(6): Show p.Arg594His	ADCY7	ENSG00000121281.13	transcript	ENST00000673801.1	protein_coding	15/26	2179/6271	1781/3243	594/1080	chr16	TogoVar
ADCY7_chr16_50261551_50323135	50312076	A A	T T	missense_variant missense_variant	MODERATE	HG02273.hp1 HG02273.hp1	a0010 a0010	a0010c0023 a0010c0023	a0010c0023t0001 a0010c0023t0001	a0010c0023t0001g0187 a0010c0023t0001g0187	1	338	0.0030	c.248 others(4): Show c.2489A>T	p.Lys others(6): Show p.Lys830Met	ADCY7	ENSG00000121281.13	transcript	ENST00000673801.1	protein_coding	21/26	2887/6271	2489/3243	830/1080	chr16	TogoVar
ADCY7_chr16_50261551_50323135	50314006	G G	A A	missense_variant missense_variant	MODERATE	NA18962.hp2 NA18983.hp2 NA18992.hp2 others(1): Show NA18962.hp2 NA18983.hp2 NA18992.hp2 NA19090.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0002 a0002c0007t0001g0131 a0002c0007t0001g0132 a0002c0007t0001g0002 a0002c0007t0001g0131 a0002c0007t0001g0132	4	338	0.0118	c.280 others(4): Show c.2800G>A	p.Gly others(6): Show p.Gly934Ser	ADCY7	ENSG00000121281.13	transcript	ENST00000673801.1	protein_coding	23/26	3198/6271	2800/3243	934/1080	chr16	TogoVar
ADCY7_chr16_50261551_50323135	50315378	C C	T T	missense_variant missense_variant	MODERATE	NA18992.hp1 NA18992.hp1	a0009 a0009	a0009c0020 a0009c0020	a0009c0020t0002 a0009c0020t0002	a0009c0020t0002g0233 a0009c0020t0002g0233	1	338	0.0030	c.311 others(4): Show c.3116C>T	p.Thr others(7): Show p.Thr1039Ile	ADCY7	ENSG00000121281.13	transcript	ENST00000673801.1	protein_coding	26/26	3514/6271	3116/3243	1039/1080	chr16	TogoVar
ADCY8_chr8_130775301_131045909	131039868	T T	A A	missense_variant missense_variant	MODERATE	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0003 a0003	a0003c0020 a0003c0021 a0003c0020 a0003c0021	a0003c0020t0002 a0003c0021t0001 a0003c0020t0002 a0003c0021t0001	a0003c0020t0002g0237 a0003c0021t0001g0238 a0003c0020t0002g0237 a0003c0021t0001g0238	2	246	0.0081	c.466 others(3): Show c.466A>T	p.Thr others(6): Show p.Thr156Ser	ADCY8	ENSG00000155897.10	transcript	ENST00000286355.10	protein_coding	1/18	1042/4421	466/3756	156/1251	chr8	TogoVar
ADCY8_chr8_130775301_131045909	131040096	C C	T T	missense_variant missense_variant	MODERATE	HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp2	a0002 a0002	a0002c0012 a0002c0013 a0002c0012 a0002c0013	a0002c0012t0004 a0002c0013t0004 a0002c0012t0004 a0002c0013t0004	a0002c0012t0004g0009 a0002c0012t0004g0010 a0002c0013t0004g0011 a0002c0012t0004g0009 a0002c0012t0004g0010 a0002c0013t0004g0011	3	246	0.0122	c.238 others(3): Show c.238G>A	p.Ala others(5): Show p.Ala80Thr	ADCY8	ENSG00000155897.10	transcript	ENST00000286355.10	protein_coding	1/18	814/4421	238/3756	80/1251	chr8	TogoVar
ADCY9_chr16_3957653_4121442	3966194	C C	T T	missense_variant missense_variant	MODERATE	NA18995.hp1 NA18995.hp1	a0010 a0010	a0010c0045 a0010c0045	a0010c0045t0002 a0010c0045t0002	a0010c0045t0002g0290 a0010c0045t0002g0290	1	320	0.0031	c.364 others(4): Show c.3643G>A	p.Val others(7): Show p.Val1215Ile	ADCY9	ENSG00000162104.10	transcript	ENST00000294016.8	protein_coding	11/11	4439/7980	3643/4062	1215/1353	chr16	TogoVar
ADCY9_chr16_3957653_4121442	3966344	C C	T T	missense_variant missense_variant	MODERATE	HG03834.hp1 HG03834.hp1	a0009 a0009	a0009c0044 a0009c0044	a0009c0044t0004 a0009c0044t0004	a0009c0044t0004g0197 a0009c0044t0004g0197	1	320	0.0031	c.349 others(4): Show c.3493G>A	p.Val others(7): Show p.Val1165Ile	ADCY9	ENSG00000162104.10	transcript	ENST00000294016.8	protein_coding	11/11	4289/7980	3493/4062	1165/1353	chr16	TogoVar
ADCY9_chr16_3957653_4121442	3966376	T T	C C	missense_variant missense_variant	MODERATE	HG00140.hp2 HG01978.hp1 HG02004.hp1 others(5): Show HG00140.hp2 HG01978.hp1 HG02004.hp1 HG02886.hp1 HG03669.hp1 HG03704.hp1 HG04199.hp2 homoSapiens_chm13v2.hp1	a0003 a0006 a0003 a0006	a0003c0013 a0003c0029 a0003c0030 others(2): Show a0003c0013 a0003c0029 a0003c0030 a0006c0050 a0006c0052	a0003c0013t0012 a0003c0013t0046 a0003c0029t0084 others(3): Show a0003c0013t0012 a0003c0013t0046 a0003c0029t0084 a0003c0030t0012 a0006c0050t0123 a0006c0052t0012	a0003c0013t0012g0185 a0003c0013t0012g0195 a0003c0013t0012g0232 others(5): Show a0003c0013t0012g0185 a0003c0013t0012g0195 a0003c0013t0012g0232 a0003c0013t0046g0008 a0003c0029t0084g0081 a0003c0030t0012g0136 a0006c0050t0123g0301 a0006c0052t0012g0295	8	320	0.0250	c.346 others(4): Show c.3461A>G	p.Asn others(7): Show p.Asn1154Ser	ADCY9	ENSG00000162104.10	transcript	ENST00000294016.8	protein_coding	11/11	4257/7980	3461/4062	1154/1353	chr16	TogoVar
ADCY9_chr16_3957653_4121442	3966475	T T	C C	missense_variant missense_variant	MODERATE	HG02572.hp2 HG02572.hp2	a0011 a0011	a0011c0041 a0011c0041	a0011c0041t0001 a0011c0041t0001	a0011c0041t0001g0299 a0011c0041t0001g0299	1	320	0.0031	c.336 others(4): Show c.3362A>G	p.Asn others(7): Show p.Asn1121Ser	ADCY9	ENSG00000162104.10	transcript	ENST00000294016.8	protein_coding	11/11	4158/7980	3362/4062	1121/1353	chr16	TogoVar
ADCY9_chr16_3957653_4121442	3966542	G G	A A	missense_variant missense_variant	MODERATE	HG02055.hp1 HG02055.hp1	a0012 a0012	a0012c0053 a0012c0053	a0012c0053t0001 a0012c0053t0001	a0012c0053t0001g0283 a0012c0053t0001g0283	1	320	0.0031	c.329 others(4): Show c.3295C>T	p.Pro others(7): Show p.Pro1099Ser	ADCY9	ENSG00000162104.10	transcript	ENST00000294016.8	protein_coding	11/11	4091/7980	3295/4062	1099/1353	chr16	TogoVar
ADCY9_chr16_3957653_4121442	3966635	T T	C C	missense_variant missense_variant	MODERATE	NA18983.hp2 NA18983.hp2	a0008 a0008	a0008c0043 a0008c0043	a0008c0043t0005 a0008c0043t0005	a0008c0043t0005g0255 a0008c0043t0005g0255	1	320	0.0031	c.320 others(4): Show c.3202A>G	p.Ser others(7): Show p.Ser1068Gly	ADCY9	ENSG00000162104.10	transcript	ENST00000294016.8	protein_coding	11/11	3998/7980	3202/4062	1068/1353	chr16	TogoVar
ADCY9_chr16_3957653_4121442	3983435	T T	C C	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00140.hp1 HG00423.hp2 others(85): Show HG00099.hp1 HG00140.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01943.hp1 HG01981.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02080.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02257.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03225.hp1 HG03225.hp2 HG03704.hp1 HG04184.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18946.hp1 NA18952.hp1 NA18953.hp2 NA18959.hp1 NA18960.hp1 NA18963.hp1 NA18964.hp2 NA18975.hp1 NA18978.hp2 NA18984.hp2 NA18989.hp1 NA18999.hp2 NA19000.hp2 NA19005.hp2 NA19012.hp2 NA19060.hp2 NA19063.hp1 NA19065.hp1 NA19074.hp1 NA19079.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19090.hp2 NA20752.hp1 NA20752.hp2	a0002 a0006 a0012 a0002 a0006 a0012	a0002c0004 a0002c0005 a0002c0011 others(18): Show a0002c0004 a0002c0005 a0002c0011 a0002c0015 a0002c0016 a0002c0018 a0002c0020 a0002c0023 a0002c0032 a0002c0033 a0002c0034 a0002c0035 a0002c0037 a0002c0038 a0002c0049 a0002c0051 a0002c0054 a0002c0055 a0006c0050 a0006c0052 a0012c0053	a0002c0004t0001 a0002c0004t0003 a0002c0004t0007 others(52): Show a0002c0004t0001 a0002c0004t0003 a0002c0004t0007 a0002c0004t0009 a0002c0004t0016 a0002c0004t0021 a0002c0004t0025 a0002c0004t0058 a0002c0004t0060 a0002c0004t0073 a0002c0004t0076 a0002c0004t0078 a0002c0004t0082 a0002c0005t0001 a0002c0005t0003 a0002c0005t0005 a0002c0005t0007 a0002c0005t0009 a0002c0005t0013 a0002c0005t0032 a0002c0005t0033 a0002c0005t0035 a0002c0005t0043 a0002c0005t0048 a0002c0005t0072 a0002c0005t0075 a0002c0005t0077 a0002c0005t0088 a0002c0011t0017 a0002c0011t0028 a0002c0011t0037 a0002c0011t0112 a0002c0015t0001 a0002c0015t0016 a0002c0015t0042 a0002c0016t0034 a0002c0016t0087 a0002c0018t0011 a0002c0018t0120 a0002c0020t0010 a0002c0020t0011 a0002c0023t0031 a0002c0032t0008 a0002c0033t0004 a0002c0034t0038 a0002c0035t0104 a0002c0037t0001 a0002c0038t0001 a0002c0049t0033 a0002c0051t0064 a0002c0054t0042 a0002c0055t0109 a0006c0050t0123 a0006c0052t0012 a0012c0053t0001	a0002c0004t0001g0172 a0002c0004t0001g0173 a0002c0004t0001g0200 others(85): Show a0002c0004t0001g0172 a0002c0004t0001g0173 a0002c0004t0001g0200 a0002c0004t0001g0201 a0002c0004t0001g0231 a0002c0004t0001g0233 a0002c0004t0001g0270 a0002c0004t0001g0286 a0002c0004t0001g0300 a0002c0004t0001g0306 a0002c0004t0003g0266 a0002c0004t0007g0275 a0002c0004t0009g0199 a0002c0004t0009g0264 a0002c0004t0009g0285 a0002c0004t0009g0296 a0002c0004t0016g0030 a0002c0004t0016g0040 a0002c0004t0021g0187 a0002c0004t0021g0193 a0002c0004t0021g0240 a0002c0004t0025g0005 a0002c0004t0025g0006 a0002c0004t0058g0041 a0002c0004t0060g0032 a0002c0004t0073g0239 a0002c0004t0076g0182 a0002c0004t0078g0214 a0002c0004t0082g0251 a0002c0005t0001g0059 a0002c0005t0001g0070 a0002c0005t0001g0072 a0002c0005t0001g0074 a0002c0005t0001g0076 a0002c0005t0001g0109 a0002c0005t0001g0126 a0002c0005t0003g0060 a0002c0005t0003g0061 a0002c0005t0003g0119 a0002c0005t0003g0121 a0002c0005t0003g0148 a0002c0005t0005g0125 a0002c0005t0007g0122 a0002c0005t0007g0151 a0002c0005t0009g0101 a0002c0005t0013g0147 a0002c0005t0032g0062 a0002c0005t0032g0131 a0002c0005t0033g0153 a0002c0005t0035g0093 a0002c0005t0043g0001 a0002c0005t0048g0004 a0002c0005t0072g0130 a0002c0005t0075g0124 a0002c0005t0077g0117 a0002c0005t0088g0090 a0002c0011t0017g0198 a0002c0011t0028g0047 a0002c0011t0028g0048 a0002c0011t0037g0252 a0002c0011t0112g0225 a0002c0015t0001g0277 a0002c0015t0016g0024 a0002c0015t0016g0046 a0002c0015t0042g0316 a0002c0016t0034g0065 a0002c0016t0034g0135 a0002c0016t0087g0106 a0002c0018t0011g0196 a0002c0018t0011g0217 a0002c0018t0120g0192 a0002c0020t0010g0142 a0002c0020t0011g0133 a0002c0023t0031g0052 a0002c0023t0031g0053 a0002c0032t0008g0152 a0002c0033t0004g0116 a0002c0034t0038g0141 a0002c0035t0104g0087 a0002c0037t0001g0166 a0002c0038t0001g0165 a0002c0049t0033g0203 a0002c0051t0064g0039 a0002c0054t0042g0317 a0002c0055t0109g0261 a0006c0050t0123g0301 a0006c0052t0012g0295 a0012c0053t0001g0283	88	320	0.2750	c.231 others(4): Show c.2316A>G	p.Ile others(6): Show p.Ile772Met	ADCY9	ENSG00000162104.10	transcript	ENST00000294016.8	protein_coding	7/11	3112/7980	2316/4062	772/1353	chr16	TogoVar
ADCY9_chr16_3957653_4121442	3993414	T T	C C	missense_variant missense_variant	MODERATE	HG02258.hp2 HG03486.hp1 NA20129.hp2 HG02258.hp2 HG03486.hp1 NA20129.hp2	a0004 a0004	a0004c0024 a0004c0056 a0004c0024 a0004c0056	a0004c0024t0090 a0004c0024t0091 a0004c0056t0111 a0004c0024t0090 a0004c0024t0091 a0004c0056t0111	a0004c0024t0090g0236 a0004c0024t0091g0241 a0004c0056t0111g0279 a0004c0024t0090g0236 a0004c0024t0091g0241 a0004c0056t0111g0279	3	320	0.0094	c.198 others(4): Show c.1981A>G	p.Ser others(6): Show p.Ser661Gly	ADCY9	ENSG00000162104.10	transcript	ENST00000294016.8	protein_coding	4/11	2777/7980	1981/4062	661/1353	chr16	TogoVar
ADCY9_chr16_3957653_4121442	4114352	G G	A A	missense_variant missense_variant	MODERATE	NA20805.hp1 NA20805.hp1	a0007 a0007	a0007c0057 a0007c0057	a0007c0057t0001 a0007c0057t0001	a0007c0057t0001g0310 a0007c0057t0001g0310	1	320	0.0031	c.109 others(4): Show c.1091C>T	p.Ser others(6): Show p.Ser364Leu	ADCY9	ENSG00000162104.10	transcript	ENST00000294016.8	protein_coding	2/11	1887/7980	1091/4062	364/1353	chr16	TogoVar
ADCY9_chr16_3957653_4121442	4114737	T T	C C	missense_variant missense_variant	MODERATE	HG02109.hp2 NA19240.hp2 HG02109.hp2 NA19240.hp2	a0005 a0005	a0005c0059 a0005c0060 a0005c0059 a0005c0060	a0005c0059t0045 a0005c0060t0044 a0005c0059t0045 a0005c0060t0044	a0005c0059t0045g0002 a0005c0060t0044g0003 a0005c0059t0045g0002 a0005c0060t0044g0003	2	320	0.0063	c.706 others(3): Show c.706A>G	p.Thr others(6): Show p.Thr236Ala	ADCY9	ENSG00000162104.10	transcript	ENST00000294016.8	protein_coding	2/11	1502/7980	706/4062	236/1353	chr16	TogoVar
ADCY9_chr16_3957653_4121442	4114766	A A	G G	missense_variant missense_variant	MODERATE	HG03490.hp1 HG03490.hp1	a0013 a0013	a0013c0026 a0013c0026	a0013c0026t0001 a0013c0026t0001	a0013c0026t0001g0056 a0013c0026t0001g0056	1	320	0.0031	c.677 others(3): Show c.677T>C	p.Met others(6): Show p.Met226Thr	ADCY9	ENSG00000162104.10	transcript	ENST00000294016.8	protein_coding	2/11	1473/7980	677/4062	226/1353	chr16	TogoVar
ADCY9_chr16_3957653_4121442	4114887	G G	C C	missense_variant missense_variant	MODERATE	NA18989.hp2 NA18989.hp2	a0014 a0014	a0014c0061 a0014c0061	a0014c0061t0006 a0014c0061t0006	a0014c0061t0006g0312 a0014c0061t0006g0312	1	320	0.0031	c.556 others(3): Show c.556C>G	p.Leu others(6): Show p.Leu186Val	ADCY9	ENSG00000162104.10	transcript	ENST00000294016.8	protein_coding	2/11	1352/7980	556/4062	186/1353	chr16	TogoVar
ADCYAP1R1_chr7_31047308_31116474	31063298	C C	G G	missense_variant missense_variant	MODERATE	HG02280.hp2 HG02280.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0069 a0004c0009t0069	a0004c0009t0069g0187 a0004c0009t0069g0187	1	322	0.0031	c.34C others(2): Show c.34C>G	p.Leu others(5): Show p.Leu12Val	ADCYAP1R1	ENSG00000078549.16	transcript	ENST00000304166.9	protein_coding	2/16	476/6639	34/1407	12/468	chr7	TogoVar
ADCYAP1R1_chr7_31047308_31116474	31084174	A A	G G	missense_variant missense_variant	MODERATE	HG02976.hp1 HG02976.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0013 a0003c0007t0013	a0003c0007t0013g0021 a0003c0007t0013g0021	1	322	0.0031	c.362 others(3): Show c.362A>G	p.Asp others(6): Show p.Asp121Gly	ADCYAP1R1	ENSG00000078549.16	transcript	ENST00000304166.9	protein_coding	7/16	804/6639	362/1407	121/468	chr7	TogoVar
ADCYAP1R1_chr7_31047308_31116474	31086966	G G	C C	missense_variant missense_variant	MODERATE	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0009 a0002c0004t0009	a0002c0004t0009g0152 a0002c0004t0009g0152	1	322	0.0031	c.847 others(3): Show c.847G>C	p.Val others(6): Show p.Val283Leu	ADCYAP1R1	ENSG00000078549.16	transcript	ENST00000304166.9	protein_coding	11/16	1289/6639	847/1407	283/468	chr7	TogoVar
ADCYAP1_chr18_899871_917172	907675	T T	G G	missense_variant missense_variant	MODERATE	HG03669.hp1 HG03669.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0003 a0004c0008t0003	a0004c0008t0003g0008 a0004c0008t0003g0008	1	488	0.0021	c.127 others(3): Show c.127T>G	p.Tyr others(5): Show p.Tyr43Asp	ADCYAP1	ENSG00000141433.13	transcript	ENST00000450565.8	protein_coding	3/5	318/3259	127/531	43/176	chr18	TogoVar
ADCYAP1_chr18_899871_917172	907709	A A	G G	missense_variant missense_variant	MODERATE	HG00323.hp1 HG00408.hp1 HG00544.hp1 others(52): Show HG00323.hp1 HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00642.hp2 HG00735.hp2 HG00741.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01255.hp2 HG01261.hp2 HG01358.hp2 HG01433.hp2 HG01515.hp1 HG01517.hp2 HG02027.hp1 HG02129.hp2 HG02135.hp1 HG02155.hp1 HG02257.hp1 HG02258.hp1 HG02451.hp1 HG02602.hp1 HG02683.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03490.hp2 HG03654.hp2 HG03669.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG06807.hp2 NA18941.hp1 NA18945.hp1 NA18982.hp1 NA18992.hp2 NA18998.hp1 NA19003.hp2 NA19011.hp1 NA19058.hp2 NA19060.hp1 NA19063.hp2 NA19077.hp1 NA19082.hp1 NA19087.hp1 NA19091.hp2 NA20129.hp2 NA20805.hp2	a0002 a0002	a0002c0004 a0002c0005 a0002c0010 others(1): Show a0002c0004 a0002c0005 a0002c0010 a0002c0012	a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 others(31): Show a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0004 a0002c0004t0005 a0002c0004t0007 a0002c0004t0008 a0002c0004t0014 a0002c0004t0015 a0002c0004t0016 a0002c0004t0026 a0002c0004t0028 a0002c0004t0032 a0002c0004t0049 a0002c0004t0050 a0002c0004t0063 a0002c0004t0065 a0002c0004t0079 a0002c0004t0081 a0002c0004t0086 a0002c0004t0092 a0002c0004t0098 a0002c0004t0100 a0002c0004t0104 a0002c0004t0105 a0002c0005t0001 a0002c0005t0003 a0002c0005t0010 a0002c0005t0011 a0002c0005t0027 a0002c0005t0043 a0002c0005t0068 a0002c0010t0026 a0002c0012t0011	a0002c0004t0001g0012 a0002c0004t0001g0015 a0002c0004t0001g0230 others(45): Show a0002c0004t0001g0012 a0002c0004t0001g0015 a0002c0004t0001g0230 a0002c0004t0002g0220 a0002c0004t0003g0043 a0002c0004t0004g0005 a0002c0004t0004g0074 a0002c0004t0005g0207 a0002c0004t0007g0064 a0002c0004t0007g0146 a0002c0004t0008g0005 a0002c0004t0008g0012 a0002c0004t0008g0114 a0002c0004t0008g0123 a0002c0004t0008g0213 a0002c0004t0008g0217 a0002c0004t0014g0012 a0002c0004t0015g0139 a0002c0004t0016g0192 a0002c0004t0026g0050 a0002c0004t0028g0005 a0002c0004t0032g0012 a0002c0004t0032g0037 a0002c0004t0049g0012 a0002c0004t0050g0012 a0002c0004t0050g0133 a0002c0004t0063g0232 a0002c0004t0065g0225 a0002c0004t0079g0134 a0002c0004t0081g0176 a0002c0004t0086g0046 a0002c0004t0092g0046 a0002c0004t0098g0031 a0002c0004t0100g0045 a0002c0004t0104g0044 a0002c0004t0105g0044 a0002c0005t0001g0015 a0002c0005t0001g0031 a0002c0005t0003g0045 a0002c0005t0010g0121 a0002c0005t0010g0127 a0002c0005t0011g0064 a0002c0005t0011g0070 a0002c0005t0027g0078 a0002c0005t0043g0227 a0002c0005t0068g0175 a0002c0010t0026g0050 a0002c0012t0011g0012	55	488	0.1127	c.161 others(3): Show c.161A>G	p.Asp others(5): Show p.Asp54Gly	ADCYAP1	ENSG00000141433.13	transcript	ENST00000450565.8	protein_coding	3/5	352/3259	161/531	54/176	chr18	TogoVar
ADCYAP1_chr18_899871_917172	907721	C C	A A	missense_variant missense_variant	MODERATE	HG03704.hp2 HG03704.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0003 a0006c0009t0003	a0006c0009t0003g0029 a0006c0009t0003g0029	1	488	0.0021	c.173 others(3): Show c.173C>A	p.Pro others(5): Show p.Pro58Gln	ADCYAP1	ENSG00000141433.13	transcript	ENST00000450565.8	protein_coding	3/5	364/3259	173/531	58/176	chr18	TogoVar
ADCYAP1_chr18_899871_917172	908294	C C	T T	missense_variant missense_variant	MODERATE	NA18943.hp2 NA18948.hp1 NA18970.hp2 others(2): Show NA18943.hp2 NA18948.hp1 NA18970.hp2 NA19066.hp1 NA19078.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0003 a0003c0006t0023 a0003c0006t0001 a0003c0006t0003 a0003c0006t0023	a0003c0006t0001g0001 a0003c0006t0001g0024 a0003c0006t0003g0001 others(1): Show a0003c0006t0001g0001 a0003c0006t0001g0024 a0003c0006t0003g0001 a0003c0006t0023g0001	5	488	0.0103	c.272 others(3): Show c.272C>T	p.Ala others(5): Show p.Ala91Val	ADCYAP1	ENSG00000141433.13	transcript	ENST00000450565.8	protein_coding	4/5	463/3259	272/531	91/176	chr18	TogoVar
ADCYAP1_chr18_899871_917172	909547	T T	A A	missense_variant missense_variant	MODERATE	HG02132.hp2 HG02132.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0020 a0005c0011t0020	a0005c0011t0020g0173 a0005c0011t0020g0173	1	488	0.0021	c.443 others(3): Show c.443T>A	p.Met others(6): Show p.Met148Lys	ADCYAP1	ENSG00000141433.13	transcript	ENST00000450565.8	protein_coding	5/5	634/3259	443/531	148/176	chr18	TogoVar
ADD1_chr4_2838844_2935062	2875931	C C	T T	missense_variant missense_variant	MODERATE	NA18952.hp1 NA18952.hp1	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0001 a0005c0014t0001	a0005c0014t0001g0026 a0005c0014t0001g0026	1	320	0.0031	c.16C others(2): Show c.16C>T	p.Arg others(4): Show p.Arg6Cys	ADD1	ENSG00000087274.19	transcript	ENST00000683351.1	protein_coding	2/16	217/4140	16/2400	6/799	chr4	TogoVar

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