Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	chr	external
ADK_chr10_74146221_74714290	74394220	G G	A A	missense_variant missense_variant	MODERATE	NA19088.hp2 NA19088.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0058 a0002c0003t0002g0058	1	198	0.0051	c.353 others(3): Show c.353G>A	p.Arg others(6): Show p.Arg118Lys	ADK	ENSG00000156110.15	transcript	ENST00000539909.6	protein_coding	5/11	411/1992	353/1089	118/362	chr10	TogoVar
ADM2_chr22_50476543_50491437	50481878	T T	G G	missense_variant missense_variant	MODERATE	NA19063.hp2 NA19063.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0079 a0004c0004t0079	a0004c0004t0079g0001 a0004c0004t0079g0001	1	444	0.0023	c.31T others(2): Show c.31T>G	p.Cys others(5): Show p.Cys11Gly	ADM2	ENSG00000128165.9	transcript	ENST00000395737.2	protein_coding	2/3	263/4213	31/447	11/148	chr22	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	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
ADM2_chr22_50476543_50491437	50482690	G G	A A	missense_variant missense_variant	MODERATE	HG02165.hp1 HG04184.hp2 HG02165.hp1 HG04184.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0021 a0003c0003t0028 a0003c0003t0021 a0003c0003t0028	a0003c0003t0021g0001 a0003c0003t0028g0001 a0003c0003t0021g0001 a0003c0003t0028g0001	2	444	0.0045	c.234 others(3): Show c.234G>A	p.Met others(5): Show p.Met78Ile	ADM2	ENSG00000128165.9	transcript	ENST00000395737.2	protein_coding	3/3	466/4213	234/447	78/148	chr22	TogoVar
ADM2_chr22_50476543_50491437	50482734	G G	A A	missense_variant missense_variant	MODERATE	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0097 a0001c0001t0097	a0001c0001t0097g0001 a0001c0001t0097g0001	1	444	0.0023	c.278 others(3): Show c.278G>A	p.Arg others(5): Show p.Arg93Gln	ADM2	ENSG00000128165.9	transcript	ENST00000395737.2	protein_coding	3/3	510/4213	278/447	93/148	chr22	TogoVar
ADM2_chr22_50476543_50491437	50482847	G G	T T	missense_variant missense_variant	MODERATE	NA19063.hp2 NA19063.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0079 a0004c0004t0079	a0004c0004t0079g0001 a0004c0004t0079g0001	1	444	0.0023	c.391 others(3): Show c.391G>T	p.Ala others(6): Show p.Ala131Ser	ADM2	ENSG00000128165.9	transcript	ENST00000395737.2	protein_coding	3/3	623/4213	391/447	131/148	chr22	TogoVar
ADM5_chr19_49684594_49695575	49690174	G G	A A	missense_variant missense_variant	MODERATE	HG00438.hp2 HG00544.hp1 NA18948.hp2 others(1): Show HG00438.hp2 HG00544.hp1 NA18948.hp2 NA18963.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0001 a0002c0003t0001g0001	4	390	0.0103	c.143 others(3): Show c.143G>A	p.Arg others(5): Show p.Arg48His	ADM5	ENSG00000224420.4	transcript	ENST00000420022.4	protein_coding	2/2	387/788	143/462	48/153	chr19	TogoVar
ADM5_chr19_49684594_49695575	49690180	C C	A A	missense_variant missense_variant	MODERATE	HG03688.hp1 HG04115.hp1 HG03688.hp1 HG04115.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0001 a0003c0004t0001g0001	2	390	0.0051	c.149 others(3): Show c.149C>A	p.Ala others(5): Show p.Ala50Glu	ADM5	ENSG00000224420.4	transcript	ENST00000420022.4	protein_coding	2/2	393/788	149/462	50/153	chr19	TogoVar
ADM_chr11_10300073_10312397	10306000	C C	G G	missense_variant missense_variant	MODERATE	HG01109.hp1 HG01346.hp2 HG01943.hp1 others(11): Show HG01109.hp1 HG01346.hp2 HG01943.hp1 HG02572.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02922.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp1 NA18522.hp2 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0008 a0002c0002t0002 a0002c0002t0008	a0002c0002t0002g0001 a0002c0002t0002g0007 a0002c0002t0008g0001 a0002c0002t0002g0001 a0002c0002t0002g0007 a0002c0002t0008g0001	14	406	0.0345	c.150 others(3): Show c.150C>G	p.Ser others(5): Show p.Ser50Arg	ADM	ENSG00000148926.10	transcript	ENST00000278175.10	protein_coding	3/4	328/1492	150/558	50/185	chr11	TogoVar
ADM_chr11_10300073_10312397	10306046	A A	G G	missense_variant missense_variant	MODERATE	HG02145.hp2 HG02145.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0001 a0004c0004t0001g0001	1	406	0.0025	c.196 others(3): Show c.196A>G	p.Thr others(5): Show p.Thr66Ala	ADM	ENSG00000148926.10	transcript	ENST00000278175.10	protein_coding	3/4	374/1492	196/558	66/185	chr11	TogoVar
ADM_chr11_10300073_10312397	10306337	C C	G G	missense_variant missense_variant	MODERATE	HG02896.hp1 HG03486.hp1 HG03579.hp2 HG02896.hp1 HG03486.hp1 HG03579.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0001 a0003c0003t0004g0001	3	406	0.0074	c.254 others(3): Show c.254C>G	p.Pro others(5): Show p.Pro85Arg	ADM	ENSG00000148926.10	transcript	ENST00000278175.10	protein_coding	4/4	432/1492	254/558	85/185	chr11	TogoVar
ADNP2_chr18_80104262_80145346	80135669	A A	G G	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00099.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0003 a0002c0011t0003	a0002c0011t0003g0217 a0002c0011t0003g0217	1	386	0.0026	c.256 others(3): Show c.256A>G	p.Thr others(5): Show p.Thr86Ala	ADNP2	ENSG00000101544.9	transcript	ENST00000262198.9	protein_coding	4/4	480/5157	256/3396	86/1131	chr18	TogoVar
ADNP2_chr18_80104262_80145346	80136387	C C	T T	missense_variant missense_variant	MODERATE	HG01081.hp2 HG01081.hp2	a0003 a0003	a0003c0023 a0003c0023	a0003c0023t0001 a0003c0023t0001	a0003c0023t0001g0201 a0003c0023t0001g0201	1	386	0.0026	c.974 others(3): Show c.974C>T	p.Ala others(6): Show p.Ala325Val	ADNP2	ENSG00000101544.9	transcript	ENST00000262198.9	protein_coding	4/4	1198/5157	974/3396	325/1131	chr18	TogoVar
ADNP2_chr18_80104262_80145346	80136687	T T	C C	missense_variant missense_variant	MODERATE	HG03654.hp1 HG03654.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0002 a0006c0013t0002	a0006c0013t0002g0148 a0006c0013t0002g0148	1	386	0.0026	c.127 others(4): Show c.1274T>C	p.Val others(6): Show p.Val425Ala	ADNP2	ENSG00000101544.9	transcript	ENST00000262198.9	protein_coding	4/4	1498/5157	1274/3396	425/1131	chr18	TogoVar
ADNP2_chr18_80104262_80145346	80136930	T T	C C	missense_variant missense_variant	MODERATE	HG06807.hp1 HG06807.hp1	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0001 a0007c0014t0001	a0007c0014t0001g0022 a0007c0014t0001g0022	1	386	0.0026	c.151 others(4): Show c.1517T>C	p.Leu others(6): Show p.Leu506Ser	ADNP2	ENSG00000101544.9	transcript	ENST00000262198.9	protein_coding	4/4	1741/5157	1517/3396	506/1131	chr18	TogoVar
ADNP2_chr18_80104262_80145346	80137541	G G	T T	missense_variant missense_variant	MODERATE	NA18974.hp2 NA18974.hp2	a0008 a0008	a0008c0017 a0008c0017	a0008c0017t0004 a0008c0017t0004	a0008c0017t0004g0003 a0008c0017t0004g0003	1	386	0.0026	c.212 others(4): Show c.2128G>T	p.Val others(6): Show p.Val710Phe	ADNP2	ENSG00000101544.9	transcript	ENST00000262198.9	protein_coding	4/4	2352/5157	2128/3396	710/1131	chr18	TogoVar
ADNP2_chr18_80104262_80145346	80138257	C C	A A	missense_variant missense_variant	MODERATE	HG02135.hp2 HG02135.hp2	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0001 a0005c0015t0001	a0005c0015t0001g0110 a0005c0015t0001g0110	1	386	0.0026	c.284 others(4): Show c.2844C>A	p.Asp others(6): Show p.Asp948Glu	ADNP2	ENSG00000101544.9	transcript	ENST00000262198.9	protein_coding	4/4	3068/5157	2844/3396	948/1131	chr18	TogoVar
ADNP2_chr18_80104262_80145346	80138370	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00099.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0003 a0002c0011t0003	a0002c0011t0003g0217 a0002c0011t0003g0217	1	386	0.0026	c.295 others(4): Show c.2957G>A	p.Gly others(6): Show p.Gly986Glu	ADNP2	ENSG00000101544.9	transcript	ENST00000262198.9	protein_coding	4/4	3181/5157	2957/3396	986/1131	chr18	TogoVar
ADNP_chr20_50883918_50936437	50891746	C C	T T	missense_variant missense_variant	MODERATE	NA19091.hp1 NA19091.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0146 a0010c0012t0001g0146	1	356	0.0028	c.296 others(4): Show c.2968G>A	p.Glu others(6): Show p.Glu990Lys	ADNP	ENSG00000101126.18	transcript	ENST00000621696.5	protein_coding	6/6	3844/6672	2968/3309	990/1102	chr20	TogoVar
ADNP_chr20_50883918_50936437	50891751	G G	A A	missense_variant missense_variant	MODERATE	NA18962.hp2 NA18962.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0016 a0008c0009t0016	a0008c0009t0016g0300 a0008c0009t0016g0300	1	356	0.0028	c.296 others(4): Show c.2963C>T	p.Thr others(6): Show p.Thr988Ile	ADNP	ENSG00000101126.18	transcript	ENST00000621696.5	protein_coding	6/6	3839/6672	2963/3309	988/1102	chr20	TogoVar
ADNP_chr20_50883918_50936437	50891899	T T	G G	missense_variant missense_variant	MODERATE	NA18952.hp1 NA18952.hp1	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0011 a0007c0013t0011	a0007c0013t0011g0191 a0007c0013t0011g0191	1	356	0.0028	c.281 others(4): Show c.2815A>C	p.Ile others(6): Show p.Ile939Leu	ADNP	ENSG00000101126.18	transcript	ENST00000621696.5	protein_coding	6/6	3691/6672	2815/3309	939/1102	chr20	TogoVar
ADNP_chr20_50883918_50936437	50891932	C C	G G	missense_variant missense_variant	MODERATE	NA18947.hp2 NA18947.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0010 a0006c0008t0010	a0006c0008t0010g0054 a0006c0008t0010g0054	1	356	0.0028	c.278 others(4): Show c.2782G>C	p.Asp others(6): Show p.Asp928His	ADNP	ENSG00000101126.18	transcript	ENST00000621696.5	protein_coding	6/6	3658/6672	2782/3309	928/1102	chr20	TogoVar
ADNP_chr20_50883918_50936437	50891942	C C	G G	missense_variant missense_variant	MODERATE	NA18987.hp1 NA18987.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0003 a0009c0011t0003	a0009c0011t0003g0249 a0009c0011t0003g0249	1	356	0.0028	c.277 others(4): Show c.2772G>C	p.Glu others(6): Show p.Glu924Asp	ADNP	ENSG00000101126.18	transcript	ENST00000621696.5	protein_coding	6/6	3648/6672	2772/3309	924/1102	chr20	TogoVar
ADNP_chr20_50883918_50936437	50891983	G G	A A	missense_variant missense_variant	MODERATE	HG02818.hp1 HG02818.hp1	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0038 a0005c0014t0038	a0005c0014t0038g0176 a0005c0014t0038g0176	1	356	0.0028	c.273 others(4): Show c.2731C>T	p.His others(6): Show p.His911Tyr	ADNP	ENSG00000101126.18	transcript	ENST00000621696.5	protein_coding	6/6	3607/6672	2731/3309	911/1102	chr20	TogoVar
ADNP_chr20_50883918_50936437	50892048	C C	G G	missense_variant missense_variant	MODERATE	HG01891.hp1 HG01891.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0093 a0003c0010t0093	a0003c0010t0093g0228 a0003c0010t0093g0228	1	356	0.0028	c.266 others(4): Show c.2666G>C	p.Ser others(6): Show p.Ser889Thr	ADNP	ENSG00000101126.18	transcript	ENST00000621696.5	protein_coding	6/6	3542/6672	2666/3309	889/1102	chr20	TogoVar
ADNP_chr20_50883918_50936437	50893639	T T	C C	missense_variant missense_variant	MODERATE	HG02723.hp2 HG02723.hp2	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0076 a0004c0016t0076	a0004c0016t0076g0175 a0004c0016t0076g0175	1	356	0.0028	c.107 others(4): Show c.1075A>G	p.Ile others(6): Show p.Ile359Val	ADNP	ENSG00000101126.18	transcript	ENST00000621696.5	protein_coding	6/6	1951/6672	1075/3309	359/1102	chr20	TogoVar
ADNP_chr20_50883918_50936437	50894179	T T	C C	missense_variant missense_variant	MODERATE	HG02451.hp1 HG03041.hp1 HG02451.hp1 HG03041.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0027 a0002c0006t0046 a0002c0006t0027 a0002c0006t0046	a0002c0006t0027g0190 a0002c0006t0046g0304 a0002c0006t0027g0190 a0002c0006t0046g0304	2	356	0.0056	c.535 others(3): Show c.535A>G	p.Ile others(6): Show p.Ile179Val	ADNP	ENSG00000101126.18	transcript	ENST00000621696.5	protein_coding	6/6	1411/6672	535/3309	179/1102	chr20	TogoVar
ADORA1_chr1_203122726_203172405	203165554	A A	G G	missense_variant missense_variant	MODERATE	HG01074.hp1 HG01074.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0169 a0002c0004t0001g0169	1	406	0.0025	c.635 others(3): Show c.635A>G	p.Asn others(6): Show p.Asn212Ser	ADORA1	ENSG00000163485.18	transcript	ENST00000337894.9	protein_coding	4/4	1050/2901	635/981	212/326	chr1	TogoVar
ADORA2A_chr22_24422599_24447357	24433465	A A	G G	missense_variant missense_variant	MODERATE	HG02738.hp2 HG02738.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0007 a0004c0009t0007	a0004c0009t0007g0150 a0004c0009t0007g0150	1	384	0.0026	c.61A others(2): Show c.61A>G	p.Ile others(5): Show p.Ile21Val	ADORA2A	ENSG00000128271.22	transcript	ENST00000337539.12	protein_coding	2/3	483/2529	61/1239	21/412	chr22	TogoVar
ADORA2A_chr22_24422599_24447357	24433553	C C	T T	missense_variant missense_variant	MODERATE	HG02055.hp1 HG02630.hp2 HG03098.hp2 others(1): Show HG02055.hp1 HG02630.hp2 HG03098.hp2 HG03195.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0034 a0002c0004t0002g0147 a0002c0004t0002g0034 a0002c0004t0002g0147	4	384	0.0104	c.149 others(3): Show c.149C>T	p.Ala others(5): Show p.Ala50Val	ADORA2A	ENSG00000128271.22	transcript	ENST00000337539.12	protein_coding	2/3	571/2529	149/1239	50/412	chr22	TogoVar
ADORA2A_chr22_24422599_24447357	24440689	G G	A A	missense_variant missense_variant	MODERATE	HG02965.hp1 HG02965.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0106 a0005c0005t0001g0106	1	384	0.0026	c.439 others(3): Show c.439G>A	p.Gly others(6): Show p.Gly147Ser	ADORA2A	ENSG00000128271.22	transcript	ENST00000337539.12	protein_coding	3/3	861/2529	439/1239	147/412	chr22	TogoVar
ADORA2A_chr22_24422599_24447357	24441073	G G	A A	missense_variant missense_variant	MODERATE	NA19056.hp1 NA19056.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0042 a0006c0006t0001g0042	1	384	0.0026	c.823 others(3): Show c.823G>A	p.Val others(6): Show p.Val275Ile	ADORA2A	ENSG00000128271.22	transcript	ENST00000337539.12	protein_coding	3/3	1245/2529	823/1239	275/412	chr22	TogoVar
ADORA2A_chr22_24422599_24447357	24441106	T T	G G	missense_variant missense_variant	MODERATE	NA19077.hp2 NA19077.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0111 a0007c0007t0001g0111	1	384	0.0026	c.856 others(3): Show c.856T>G	p.Phe others(6): Show p.Phe286Val	ADORA2A	ENSG00000128271.22	transcript	ENST00000337539.12	protein_coding	3/3	1278/2529	856/1239	286/412	chr22	TogoVar
ADORA2A_chr22_24422599_24447357	24441275	C C	T T	missense_variant missense_variant	MODERATE	HG00609.hp1 HG00609.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0002 a0003c0008t0002	a0003c0008t0002g0021 a0003c0008t0002g0021	1	384	0.0026	c.102 others(4): Show c.1025C>T	p.Pro others(6): Show p.Pro342Leu	ADORA2A	ENSG00000128271.22	transcript	ENST00000337539.12	protein_coding	3/3	1447/2529	1025/1239	342/412	chr22	TogoVar
ADORA2A_chr22_24422599_24447357	24441456	C C	A A	missense_variant missense_variant	MODERATE	HG02055.hp1 HG02630.hp2 HG03098.hp2 others(1): Show HG02055.hp1 HG02630.hp2 HG03098.hp2 HG03195.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0034 a0002c0004t0002g0147 a0002c0004t0002g0034 a0002c0004t0002g0147	4	384	0.0104	c.120 others(4): Show c.1206C>A	p.Asp others(6): Show p.Asp402Glu	ADORA2A	ENSG00000128271.22	transcript	ENST00000337539.12	protein_coding	3/3	1628/2529	1206/1239	402/412	chr22	TogoVar
ADORA2B_chr17_15940130_15980746	15945352	C C	T T	missense_variant missense_variant	MODERATE	HG02717.hp2 HG03471.hp2 HG02717.hp2 HG03471.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0032 a0003c0005t0001g0033 a0003c0005t0001g0032 a0003c0005t0001g0033	2	344	0.0058	c.104 others(3): Show c.104C>T	p.Ala others(5): Show p.Ala35Val	ADORA2B	ENSG00000170425.4	transcript	ENST00000304222.3	protein_coding	1/2	223/1522	104/999	35/332	chr17	TogoVar
ADORA2B_chr17_15940130_15980746	15974720	T T	C C	missense_variant missense_variant	MODERATE	HG03490.hp1 HG03490.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0001 a0004c0008t0001g0001	1	344	0.0029	c.377 others(3): Show c.377T>C	p.Ile others(6): Show p.Ile126Thr	ADORA2B	ENSG00000170425.4	transcript	ENST00000304222.3	protein_coding	2/2	496/1522	377/999	126/332	chr17	TogoVar
ADORA3_chr1_111494429_111508633	111500110	A A	T T	missense_variant missense_variant	MODERATE	HG00438.hp2 HG01069.hp1 HG01071.hp1 others(10): Show HG00438.hp2 HG01069.hp1 HG01071.hp1 HG01255.hp2 HG02280.hp1 HG02683.hp1 HG02735.hp1 HG03579.hp1 NA18970.hp1 NA18972.hp2 NA18990.hp2 NA19000.hp1 NA19063.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0006 a0002c0003t0002g0021 a0002c0003t0002g0006 a0002c0003t0002g0021	13	456	0.0285	c.797 others(3): Show c.797T>A	p.Met others(6): Show p.Met266Lys	ADORA3	ENSG00000282608.2	transcript	ENST00000241356.5	protein_coding	2/2	1076/1757	797/957	266/318	chr1	TogoVar
ADORA3_chr1_111494429_111508633	111500165	T T	G G	missense_variant missense_variant	MODERATE	HG00733.hp2 HG00738.hp2 HG01069.hp2 others(6): Show HG00733.hp2 HG00738.hp2 HG01069.hp2 HG01952.hp1 HG02145.hp2 HG02300.hp1 HG03098.hp2 HG03139.hp2 NA20805.hp1	a0003 a0003	a0003c0004 a0003c0007 a0003c0004 a0003c0007	a0003c0004t0004 a0003c0007t0004 a0003c0004t0004 a0003c0007t0004	a0003c0004t0004g0011 a0003c0004t0004g0029 a0003c0007t0004g0019 a0003c0004t0004g0011 a0003c0004t0004g0029 a0003c0007t0004g0019	9	456	0.0197	c.742 others(3): Show c.742A>C	p.Ile others(6): Show p.Ile248Leu	ADORA3	ENSG00000282608.2	transcript	ENST00000241356.5	protein_coding	2/2	1021/1757	742/957	248/318	chr1	TogoVar
ADORA3_chr1_111494429_111508633	111500237	G G	A A	missense_variant missense_variant	MODERATE	NA18964.hp2 NA18964.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0002 a0006c0010t0002	a0006c0010t0002g0036 a0006c0010t0002g0036	1	456	0.0022	c.670 others(3): Show c.670C>T	p.Arg others(6): Show p.Arg224Trp	ADORA3	ENSG00000282608.2	transcript	ENST00000241356.5	protein_coding	2/2	949/1757	670/957	224/318	chr1	TogoVar
ADORA3_chr1_111494429_111508633	111500243	A A	G G	missense_variant missense_variant	MODERATE	NA18978.hp1 NA18978.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0002 a0007c0009t0002	a0007c0009t0002g0057 a0007c0009t0002g0057	1	456	0.0022	c.664 others(3): Show c.664T>C	p.Tyr others(6): Show p.Tyr222His	ADORA3	ENSG00000282608.2	transcript	ENST00000241356.5	protein_coding	2/2	943/1757	664/957	222/318	chr1	TogoVar
ADORA3_chr1_111494429_111508633	111503087	G G	C C	missense_variant missense_variant	MODERATE	HG02280.hp2 NA18906.hp2 HG02280.hp2 NA18906.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0027 a0004c0006t0002g0027	2	456	0.0044	c.268 others(3): Show c.268C>G	p.Leu others(5): Show p.Leu90Val	ADORA3	ENSG00000282608.2	transcript	ENST00000241356.5	protein_coding	1/2	547/1757	268/957	90/318	chr1	TogoVar
ADORA3_chr1_111494429_111508633	111503249	C C	T T	missense_variant missense_variant	MODERATE	HG02165.hp2 HG02165.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0002	a0005c0008t0002g0032 a0005c0008t0002g0032	1	456	0.0022	c.106 others(3): Show c.106G>A	p.Val others(5): Show p.Val36Met	ADORA3	ENSG00000282608.2	transcript	ENST00000241356.5	protein_coding	1/2	385/1757	106/957	36/318	chr1	TogoVar
ADO_chr10_62799720_62813479	62805132	G G	T T	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(71): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00673.hp1 HG01069.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp2 HG01243.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01515.hp1 HG01884.hp1 HG01934.hp1 HG01943.hp1 HG02027.hp1 HG02109.hp1 HG02129.hp1 HG02135.hp2 HG02683.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03654.hp2 HG03688.hp2 HG03834.hp2 HG03927.hp1 HG04184.hp1 HG06807.hp2 NA18940.hp2 NA18943.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18959.hp2 NA18962.hp1 NA18972.hp1 NA18977.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18995.hp2 NA19001.hp2 NA19003.hp1 NA19009.hp2 NA19056.hp1 NA19060.hp2 NA19065.hp1 NA19072.hp2 NA19077.hp2 NA19080.hp2 NA19083.hp1 NA19085.hp2 NA19087.hp1 NA19089.hp1 NA19090.hp1 NA19091.hp1 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0023 a0002c0002t0002 a0002c0002t0023	a0002c0002t0002g0000 a0002c0002t0023g0000 a0002c0002t0002g0000 a0002c0002t0023g0000	74	424	0.1745	c.73G others(2): Show c.73G>T	p.Gly others(5): Show p.Gly25Trp	ADO	ENSG00000181915.6	transcript	ENST00000373783.3	protein_coding	1/1	413/3760	73/813	25/270	chr10	TogoVar
ADO_chr10_62799720_62813479	62805174	C C	G G	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(83): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00673.hp1 HG00733.hp2 HG00738.hp1 HG01069.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01515.hp1 HG01884.hp1 HG01934.hp1 HG01943.hp1 HG02027.hp1 HG02109.hp1 HG02129.hp1 HG02135.hp2 HG02257.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp2 HG03017.hp1 HG03017.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp2 HG03688.hp2 HG03834.hp2 HG03927.hp1 HG04184.hp1 HG06807.hp2 NA18940.hp2 NA18943.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18959.hp2 NA18962.hp1 NA18972.hp1 NA18977.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18995.hp2 NA19001.hp2 NA19003.hp1 NA19009.hp2 NA19056.hp1 NA19060.hp2 NA19065.hp1 NA19072.hp2 NA19077.hp2 NA19080.hp2 NA19083.hp1 NA19085.hp2 NA19087.hp1 NA19089.hp1 NA19090.hp1 NA19091.hp1 NA20300.hp2 NA20752.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0002 a0002c0002t0023 a0003c0004t0002 a0002c0002t0002 a0002c0002t0023 a0003c0004t0002	a0002c0002t0002g0000 a0002c0002t0023g0000 a0003c0004t0002g0000 a0002c0002t0002g0000 a0002c0002t0023g0000 a0003c0004t0002g0000	86	424	0.2028	c.115 others(3): Show c.115C>G	p.Pro others(5): Show p.Pro39Ala	ADO	ENSG00000181915.6	transcript	ENST00000373783.3	protein_coding	1/1	455/3760	115/813	39/270	chr10	TogoVar
ADPGK_chr15_72746294_72788758	72752522	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00735.hp2 HG01070.hp1 others(18): Show HG00099.hp1 HG00735.hp2 HG01070.hp1 HG01255.hp2 HG01257.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01891.hp1 HG02559.hp1 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02922.hp2 HG03704.hp1 HG03942.hp1 NA18522.hp2 NA18906.hp2 NA19043.hp2 NA20752.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0008 a0003c0003t0001g0009 a0003c0003t0001g0023 others(9): Show a0003c0003t0001g0008 a0003c0003t0001g0009 a0003c0003t0001g0023 a0003c0003t0001g0061 a0003c0003t0001g0065 a0003c0003t0001g0066 a0003c0003t0001g0067 a0003c0003t0001g0068 a0003c0003t0001g0069 a0003c0003t0001g0070 a0003c0003t0001g0080 a0003c0003t0001g0081	21	368	0.0571	c.131 others(4): Show c.1313C>T	p.Ser others(6): Show p.Ser438Leu	ADPGK	ENSG00000159322.18	transcript	ENST00000456471.3	protein_coding	7/7	1380/2608	1313/1494	438/497	chr15	TogoVar
ADPGK_chr15_72746294_72788758	72760482	C C	G G	missense_variant missense_variant	MODERATE	HG00423.hp1 HG00423.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0002 a0004c0010t0002	a0004c0010t0002g0128 a0004c0010t0002g0128	1	368	0.0027	c.568 others(3): Show c.568G>C	p.Asp others(6): Show p.Asp190His	ADPGK	ENSG00000159322.18	transcript	ENST00000456471.3	protein_coding	4/7	635/2608	568/1494	190/497	chr15	TogoVar
ADPGK_chr15_72746294_72788758	72760499	T T	C C	missense_variant missense_variant	MODERATE	HG00597.hp2 HG00639.hp1 HG00741.hp1 others(91): Show HG00597.hp2 HG00639.hp1 HG00741.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01515.hp2 HG01517.hp1 HG01891.hp2 HG01943.hp1 HG01978.hp1 HG02055.hp1 HG02055.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02148.hp2 HG02165.hp2 HG02273.hp2 HG02300.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03491.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18946.hp1 NA18948.hp2 NA18951.hp1 NA18952.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18967.hp2 NA18968.hp1 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18978.hp1 NA18981.hp1 NA18987.hp1 NA18991.hp2 NA18994.hp2 NA19000.hp1 NA19002.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19057.hp2 NA19058.hp1 NA19064.hp2 NA19070.hp2 NA19074.hp2 NA19081.hp1 NA19084.hp1 NA19085.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 others(2): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 a0002c0002t0007 a0002c0006t0002	a0002c0002t0001g0003 a0002c0002t0001g0010 a0002c0002t0001g0011 others(61): Show a0002c0002t0001g0003 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0035 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0089 a0002c0002t0001g0091 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0143 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0003g0050 a0002c0002t0003g0052 a0002c0002t0003g0053 a0002c0002t0003g0054 a0002c0002t0003g0055 a0002c0002t0005g0051 a0002c0002t0005g0056 a0002c0002t0007g0102 a0002c0006t0002g0016	94	368	0.2554	c.551 others(3): Show c.551A>G	p.Lys others(6): Show p.Lys184Arg	ADPGK	ENSG00000159322.18	transcript	ENST00000456471.3	protein_coding	4/7	618/2608	551/1494	184/497	chr15	TogoVar
ADPGK_chr15_72746294_72788758	72760515	C C	T T	missense_variant missense_variant	MODERATE	NA20300.hp2 NA20300.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0002 a0007c0009t0002	a0007c0009t0002g0131 a0007c0009t0002g0131	1	368	0.0027	c.535 others(3): Show c.535G>A	p.Gly others(6): Show p.Gly179Ser	ADPGK	ENSG00000159322.18	transcript	ENST00000456471.3	protein_coding	4/7	602/2608	535/1494	179/497	chr15	TogoVar
ADPGK_chr15_72746294_72788758	72783505	C C	T T	missense_variant missense_variant	MODERATE	HG03453.hp2 HG03453.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0049 a0005c0008t0001g0049	1	368	0.0027	c.187 others(3): Show c.187G>A	p.Ala others(5): Show p.Ala63Thr	ADPGK	ENSG00000159322.18	transcript	ENST00000456471.3	protein_coding	1/7	254/2608	187/1494	63/497	chr15	TogoVar

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