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
ACSS2_chr20_34871612_34932959	34927194	C C	T T	missense_variant missense_variant	MODERATE	HG03098.hp2 HG03098.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0014 a0008c0012t0001g0014	1	310	0.0032	c.208 others(4): Show c.2086C>T	p.Arg others(6): Show p.Arg696Cys	ACSS2	ENSG00000131069.20	transcript	ENST00000360596.7	protein_coding	18/18	2120/2885	2086/2106	696/701	chr20	TogoVar
ACSS3_chr12_81073079_81266210	81078175	G G	C C	missense_variant missense_variant	MODERATE	NA19010.hp2 NA19085.hp1 NA19010.hp2 NA19085.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0005 a0003c0007t0005	a0003c0007t0005g0268 a0003c0007t0005g0276 a0003c0007t0005g0268 a0003c0007t0005g0276	2	288	0.0069	c.55G others(2): Show c.55G>C	p.Gly others(5): Show p.Gly19Arg	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	1/16	97/8391	55/2061	19/686	chr12	TogoVar
ACSS3_chr12_81073079_81266210	81134846	C C	T T	missense_variant missense_variant	MODERATE	HG01884.hp2 HG02109.hp2 HG02257.hp2 others(29): Show HG01884.hp2 HG02109.hp2 HG02257.hp2 HG02280.hp2 HG02809.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03130.hp2 HG03225.hp1 HG06807.hp1 NA18906.hp2 NA18939.hp2 NA18949.hp2 NA18951.hp1 NA18955.hp1 NA18957.hp2 NA18966.hp1 NA18973.hp2 NA18989.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19078.hp2 NA19080.hp1 NA19083.hp2 NA19085.hp1 NA19086.hp1 NA19240.hp2 NA21309.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0002c0004 a0002c0009 others(3): Show a0002c0003 a0002c0004 a0002c0009 a0002c0014 a0002c0015 a0003c0007	a0002c0003t0005 a0002c0004t0001 a0002c0004t0003 others(6): Show a0002c0003t0005 a0002c0004t0001 a0002c0004t0003 a0002c0004t0004 a0002c0004t0008 a0002c0009t0002 a0002c0014t0003 a0002c0015t0003 a0003c0007t0005	a0002c0003t0005g0152 a0002c0003t0005g0153 a0002c0003t0005g0154 others(29): Show a0002c0003t0005g0152 a0002c0003t0005g0153 a0002c0003t0005g0154 a0002c0003t0005g0155 a0002c0003t0005g0156 a0002c0003t0005g0157 a0002c0003t0005g0271 a0002c0003t0005g0272 a0002c0003t0005g0273 a0002c0003t0005g0274 a0002c0003t0005g0275 a0002c0003t0005g0277 a0002c0003t0005g0278 a0002c0003t0005g0279 a0002c0003t0005g0281 a0002c0004t0001g0267 a0002c0004t0001g0283 a0002c0004t0003g0229 a0002c0004t0003g0230 a0002c0004t0003g0280 a0002c0004t0003g0282 a0002c0004t0003g0287 a0002c0004t0004g0204 a0002c0004t0004g0284 a0002c0004t0004g0285 a0002c0004t0008g0044 a0002c0009t0002g0269 a0002c0009t0002g0270 a0002c0014t0003g0233 a0002c0015t0003g0041 a0003c0007t0005g0268 a0003c0007t0005g0276	32	288	0.1111	c.487 others(3): Show c.487C>T	p.His others(6): Show p.His163Tyr	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	3/16	529/8391	487/2061	163/686	chr12	TogoVar
ACSS3_chr12_81073079_81266210	81233436	G G	T T	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02257.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0002 a0004c0012t0002	a0004c0012t0002g0066 a0004c0012t0002g0066	1	288	0.0035	c.168 others(4): Show c.1684G>T	p.Ala others(6): Show p.Ala562Ser	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	13/16	1726/8391	1684/2061	562/686	chr12	TogoVar
ACTBL2_chr5_57475018_57487811	57481615	C C	T T	missense_variant missense_variant	MODERATE	NA18747.hp2 NA18747.hp2	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0001 a0009c0011t0001	a0009c0011t0001g0000 a0009c0011t0001g0000	1	446	0.0022	c.109 others(4): Show c.1093G>A	p.Glu others(6): Show p.Glu365Lys	ACTBL2	ENSG00000169067.4	transcript	ENST00000423391.3	protein_coding	1/1	1197/2794	1093/1131	365/376	chr5	TogoVar
ACTBL2_chr5_57475018_57487811	57481945	G G	C C	missense_variant missense_variant	MODERATE	HG00639.hp2 HG00639.hp2	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0001	a0006c0013t0001g0000 a0006c0013t0001g0000	1	446	0.0022	c.763 others(3): Show c.763C>G	p.Arg others(6): Show p.Arg255Gly	ACTBL2	ENSG00000169067.4	transcript	ENST00000423391.3	protein_coding	1/1	867/2794	763/1131	255/376	chr5	TogoVar
ACTBL2_chr5_57475018_57487811	57482065	C C	G G	missense_variant missense_variant	MODERATE	HG02683.hp1 HG03654.hp1 HG02683.hp1 HG03654.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0000 a0005c0007t0002g0000	2	446	0.0045	c.643 others(3): Show c.643G>C	p.Glu others(6): Show p.Glu215Gln	ACTBL2	ENSG00000169067.4	transcript	ENST00000423391.3	protein_coding	1/1	747/2794	643/1131	215/376	chr5	TogoVar
ACTBL2_chr5_57475018_57487811	57482085	T T	C C	missense_variant missense_variant	MODERATE	NA18989.hp2 NA18989.hp2	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0001 a0010c0014t0001	a0010c0014t0001g0000 a0010c0014t0001g0000	1	446	0.0022	c.623 others(3): Show c.623A>G	p.Glu others(6): Show p.Glu208Gly	ACTBL2	ENSG00000169067.4	transcript	ENST00000423391.3	protein_coding	1/1	727/2794	623/1131	208/376	chr5	TogoVar
ACTBL2_chr5_57475018_57487811	57482088	C C	T T	missense_variant missense_variant	MODERATE	HG01358.hp1 HG01358.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0000 a0007c0010t0001g0000	1	446	0.0022	c.620 others(3): Show c.620G>A	p.Arg others(6): Show p.Arg207Gln	ACTBL2	ENSG00000169067.4	transcript	ENST00000423391.3	protein_coding	1/1	724/2794	620/1131	207/376	chr5	TogoVar
ACTBL2_chr5_57475018_57487811	57482089	G G	A A	missense_variant missense_variant	MODERATE	HG02258.hp2 HG02717.hp1 HG02717.hp2 HG02258.hp2 HG02717.hp1 HG02717.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0000 a0004c0006t0001g0000	3	446	0.0067	c.619 others(3): Show c.619C>T	p.Arg others(6): Show p.Arg207Trp	ACTBL2	ENSG00000169067.4	transcript	ENST00000423391.3	protein_coding	1/1	723/2794	619/1131	207/376	chr5	TogoVar
ACTBL2_chr5_57475018_57487811	57482118	C C	T T	missense_variant missense_variant	MODERATE	HG02258.hp2 HG02717.hp1 HG02717.hp2 HG02258.hp2 HG02717.hp1 HG02717.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0000 a0004c0006t0001g0000	3	446	0.0067	c.590 others(3): Show c.590G>A	p.Arg others(6): Show p.Arg197Gln	ACTBL2	ENSG00000169067.4	transcript	ENST00000423391.3	protein_coding	1/1	694/2794	590/1131	197/376	chr5	TogoVar
ACTBL2_chr5_57475018_57487811	57482376	A A	G G	missense_variant missense_variant	MODERATE	HG02109.hp1 HG02145.hp1 HG02258.hp1 others(2): Show HG02109.hp1 HG02145.hp1 HG02258.hp1 HG03209.hp2 HG03516.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0000 a0003c0005t0001g0000	5	446	0.0112	c.332 others(3): Show c.332T>C	p.Leu others(6): Show p.Leu111Pro	ACTBL2	ENSG00000169067.4	transcript	ENST00000423391.3	protein_coding	1/1	436/2794	332/1131	111/376	chr5	TogoVar
ACTBL2_chr5_57475018_57487811	57482386	C C	T T	missense_variant missense_variant	MODERATE	HG01884.hp2 HG02572.hp1 HG02647.hp1 others(6): Show HG01884.hp2 HG02572.hp1 HG02647.hp1 HG02723.hp1 HG03041.hp2 HG03471.hp2 HG06807.hp1 NA20129.hp1 NA21309.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0000 a0002c0004t0004g0000	9	446	0.0202	c.322 others(3): Show c.322G>A	p.Glu others(6): Show p.Glu108Lys	ACTBL2	ENSG00000169067.4	transcript	ENST00000423391.3	protein_coding	1/1	426/2794	322/1131	108/376	chr5	TogoVar
ACTBL2_chr5_57475018_57487811	57482569	C C	T T	missense_variant missense_variant	MODERATE	HG03831.hp2 HG03831.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0000 a0008c0009t0001g0000	1	446	0.0022	c.139 others(3): Show c.139G>A	p.Gly others(5): Show p.Gly47Ser	ACTBL2	ENSG00000169067.4	transcript	ENST00000423391.3	protein_coding	1/1	243/2794	139/1131	47/376	chr5	TogoVar
ACTG2_chr2_73888008_73924865	73919434	T T	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01074.hp2 HG01074.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0135 a0002c0004t0001g0135	1	414	0.0024	c.990 others(3): Show c.990T>G	p.Ile others(6): Show p.Ile330Met	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	9/9	1070/1501	990/1131	330/376	chr2	TogoVar
ACTL10_chr20_33661943_33673525	33667801	C C	A A	missense_variant missense_variant	MODERATE	HG02559.hp1 HG02809.hp1 HG02559.hp1 HG02809.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0012 a0002c0002t0001 a0002c0002t0012	a0002c0002t0001g0000 a0002c0002t0012g0000 a0002c0002t0001g0000 a0002c0002t0012g0000	2	366	0.0055	c.304 others(3): Show c.304C>A	p.His others(6): Show p.His102Asn	ACTL10	ENSG00000288649.2	transcript	ENST00000677665.1	protein_coding	1/1	859/1583	304/738	102/245	chr20	TogoVar
ACTL10_chr20_33661943_33673525	33667895	T T	C C	missense_variant missense_variant	MODERATE	NA18955.hp1 NA18955.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0000 a0004c0003t0001g0000	1	366	0.0027	c.398 others(3): Show c.398T>C	p.Leu others(6): Show p.Leu133Pro	ACTL10	ENSG00000288649.2	transcript	ENST00000677665.1	protein_coding	1/1	953/1583	398/738	133/245	chr20	TogoVar
ACTL10_chr20_33661943_33673525	33668201	G G	C C	missense_variant missense_variant	MODERATE	HG03453.hp1 HG03453.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0000 a0003c0004t0001g0000	1	366	0.0027	c.704 others(3): Show c.704G>C	p.Cys others(6): Show p.Cys235Ser	ACTL10	ENSG00000288649.2	transcript	ENST00000677665.1	protein_coding	1/1	1259/1583	704/738	235/245	chr20	TogoVar
ACTL6A_chr3_179557926_179593407	179574382	G G	A A	missense_variant missense_variant	MODERATE	HG02293.hp2 HG02293.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0015 a0004c0004t0001g0015	1	378	0.0026	c.391 others(3): Show c.391G>A	p.Ala others(6): Show p.Ala131Thr	ACTL6A	ENSG00000136518.17	transcript	ENST00000429709.7	protein_coding	5/14	558/1854	391/1290	131/429	chr3	TogoVar
ACTL6A_chr3_179557926_179593407	179576700	G G	A A	missense_variant missense_variant	MODERATE	HG00280.hp2 HG00280.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0002 a0002c0005t0001g0002	1	378	0.0026	c.652 others(3): Show c.652G>A	p.Val others(6): Show p.Val218Ile	ACTL6A	ENSG00000136518.17	transcript	ENST00000429709.7	protein_coding	7/14	819/1854	652/1290	218/429	chr3	TogoVar
ACTL6A_chr3_179557926_179593407	179576721	T T	A A	missense_variant missense_variant	MODERATE	HG01192.hp2 HG01192.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0002 a0003c0006t0001g0002	1	378	0.0026	c.673 others(3): Show c.673T>A	p.Ser others(6): Show p.Ser225Thr	ACTL6A	ENSG00000136518.17	transcript	ENST00000429709.7	protein_coding	7/14	840/1854	673/1290	225/429	chr3	TogoVar
ACTL6B_chr7_100638097_100661448	100647509	G G	C C	missense_variant missense_variant	MODERATE	HG02056.hp2 HG02056.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0250 a0002c0007t0001g0250	1	358	0.0028	c.694 others(3): Show c.694C>G	p.Pro others(6): Show p.Pro232Ala	ACTL6B	ENSG00000077080.10	transcript	ENST00000160382.10	protein_coding	8/14	788/1524	694/1281	232/426	chr7	TogoVar
ACTL7A_chr9_108857266_108868756	108862581	G G	A A	missense_variant missense_variant	MODERATE	NA18952.hp1 NA18952.hp1	a0008 a0008	a0008c0006 a0008c0006	a0008c0006t0001 a0008c0006t0001	a0008c0006t0001g0000 a0008c0006t0001g0000	1	480	0.0021	c.259 others(3): Show c.259G>A	p.Gly others(5): Show p.Gly87Ser	ACTL7A	ENSG00000187003.7	transcript	ENST00000333999.5	protein_coding	1/1	316/1491	259/1308	87/435	chr9	TogoVar
ACTL7A_chr9_108857266_108868756	108862658	T T	G G	missense_variant missense_variant	MODERATE	HG02818.hp1 HG02818.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0000 a0007c0007t0001g0000	1	480	0.0021	c.336 others(3): Show c.336T>G	p.Asn others(6): Show p.Asn112Lys	ACTL7A	ENSG00000187003.7	transcript	ENST00000333999.5	protein_coding	1/1	393/1491	336/1308	112/435	chr9	TogoVar
ACTL7A_chr9_108857266_108868756	108862729	G G	A A	missense_variant missense_variant	MODERATE	HG01175.hp2 HG01175.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0000 a0006c0008t0001g0000	1	480	0.0021	c.407 others(3): Show c.407G>A	p.Arg others(6): Show p.Arg136Gln	ACTL7A	ENSG00000187003.7	transcript	ENST00000333999.5	protein_coding	1/1	464/1491	407/1308	136/435	chr9	TogoVar
ACTL7A_chr9_108857266_108868756	108862803	G G	C C	missense_variant missense_variant	MODERATE	HG01192.hp1 HG01243.hp2 HG01884.hp2 others(13): Show HG01192.hp1 HG01243.hp2 HG01884.hp2 HG02109.hp2 HG02451.hp2 HG02615.hp1 HG02647.hp1 HG02717.hp1 HG02886.hp1 HG02895.hp2 HG02965.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03225.hp1 NA19030.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	16	480	0.0333	c.481 others(3): Show c.481G>C	p.Ala others(6): Show p.Ala161Pro	ACTL7A	ENSG00000187003.7	transcript	ENST00000333999.5	protein_coding	1/1	538/1491	481/1308	161/435	chr9	TogoVar
ACTL7A_chr9_108857266_108868756	108863340	G G	A A	missense_variant missense_variant	MODERATE	HG00673.hp1 HG01074.hp2 HG01192.hp1 others(36): Show HG00673.hp1 HG01074.hp2 HG01192.hp1 HG01243.hp2 HG01884.hp2 HG02015.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02451.hp2 HG02572.hp1 HG02615.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03225.hp1 HG03490.hp1 HG03492.hp1 HG03669.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp2 NA18998.hp1 NA19000.hp1 NA19030.hp1 NA19067.hp1 NA19072.hp2 NA19077.hp2 NA19078.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0004 a0002c0009 others(1): Show a0002c0002 a0002c0004 a0002c0009 a0003c0003	a0002c0002t0001 a0002c0004t0001 a0002c0009t0001 others(1): Show a0002c0002t0001 a0002c0004t0001 a0002c0009t0001 a0003c0003t0001	a0002c0002t0001g0000 a0002c0004t0001g0000 a0002c0009t0001g0000 others(1): Show a0002c0002t0001g0000 a0002c0004t0001g0000 a0002c0009t0001g0000 a0003c0003t0001g0000	39	480	0.0813	c.101 others(4): Show c.1018G>A	p.Val others(6): Show p.Val340Met	ACTL7A	ENSG00000187003.7	transcript	ENST00000333999.5	protein_coding	1/1	1075/1491	1018/1308	340/435	chr9	TogoVar
ACTL7A_chr9_108857266_108868756	108863349	C C	G G	missense_variant missense_variant	MODERATE	HG01109.hp1 HG01175.hp2 HG01109.hp1 HG01175.hp2	a0005 a0006 a0005 a0006	a0005c0011 a0006c0008 a0005c0011 a0006c0008	a0005c0011t0001 a0006c0008t0001 a0005c0011t0001 a0006c0008t0001	a0005c0011t0001g0000 a0006c0008t0001g0000 a0005c0011t0001g0000 a0006c0008t0001g0000	2	480	0.0042	c.102 others(4): Show c.1027C>G	p.Leu others(6): Show p.Leu343Val	ACTL7A	ENSG00000187003.7	transcript	ENST00000333999.5	protein_coding	1/1	1084/1491	1027/1308	343/435	chr9	TogoVar
ACTL7A_chr9_108857266_108868756	108863425	G G	C C	missense_variant missense_variant	MODERATE	NA18987.hp1 NA19080.hp1 NA19083.hp1 NA18987.hp1 NA19080.hp1 NA19083.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0000 a0004c0005t0001g0000	3	480	0.0063	c.110 others(4): Show c.1103G>C	p.Ser others(6): Show p.Ser368Thr	ACTL7A	ENSG00000187003.7	transcript	ENST00000333999.5	protein_coding	1/1	1160/1491	1103/1308	368/435	chr9	TogoVar
ACTL7B_chr9_108849588_108860986	108854894	G G	C C	missense_variant missense_variant	MODERATE	NA21309.hp1 NA21309.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0000 a0007c0012t0001g0000	1	468	0.0021	c.103 others(4): Show c.1037C>G	p.Thr others(6): Show p.Thr346Ser	ACTL7B	ENSG00000148156.8	transcript	ENST00000374667.5	protein_coding	1/1	1093/1399	1037/1248	346/415	chr9	TogoVar
ACTL7B_chr9_108849588_108860986	108855042	G G	A A	missense_variant missense_variant	MODERATE	NA19012.hp1 NA19012.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0001 a0005c0013t0001	a0005c0013t0001g0000 a0005c0013t0001g0000	1	468	0.0021	c.889 others(3): Show c.889C>T	p.Arg others(6): Show p.Arg297Cys	ACTL7B	ENSG00000148156.8	transcript	ENST00000374667.5	protein_coding	1/1	945/1399	889/1248	297/415	chr9	TogoVar
ACTL7B_chr9_108849588_108860986	108855458	C C	T T	missense_variant missense_variant	MODERATE	NA19030.hp1 NA19030.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0000 a0006c0010t0001g0000	1	468	0.0021	c.473 others(3): Show c.473G>A	p.Ser others(6): Show p.Ser158Asn	ACTL7B	ENSG00000148156.8	transcript	ENST00000374667.5	protein_coding	1/1	529/1399	473/1248	158/415	chr9	TogoVar
ACTL7B_chr9_108849588_108860986	108855547	G G	T T	missense_variant missense_variant	MODERATE	HG02109.hp2 HG02280.hp1 HG02818.hp1 others(5): Show HG02109.hp2 HG02280.hp1 HG02818.hp1 HG02886.hp2 HG03130.hp2 HG03195.hp1 HG03453.hp2 NA21309.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0000 a0003c0007t0001g0000	8	468	0.0171	c.384 others(3): Show c.384C>A	p.Asp others(6): Show p.Asp128Glu	ACTL7B	ENSG00000148156.8	transcript	ENST00000374667.5	protein_coding	1/1	440/1399	384/1248	128/415	chr9	TogoVar
ACTL7B_chr9_108849588_108860986	108855800	C C	A A	missense_variant missense_variant	MODERATE	HG03579.hp1 HG03579.hp1	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0001 a0004c0015t0001	a0004c0015t0001g0000 a0004c0015t0001g0000	1	468	0.0021	c.131 others(3): Show c.131G>T	p.Arg others(5): Show p.Arg44Met	ACTL7B	ENSG00000148156.8	transcript	ENST00000374667.5	protein_coding	1/1	187/1399	131/1248	44/415	chr9	TogoVar
ACTL8_chr1_17750333_17832063	17823015	G G	T T	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(107): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00558.hp2 HG00621.hp2 HG00639.hp2 HG00735.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01074.hp1 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01256.hp1 HG01258.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01891.hp2 HG01934.hp1 HG01952.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02135.hp1 HG02155.hp2 HG02273.hp2 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG03453.hp1 HG03471.hp2 HG03669.hp2 HG03834.hp2 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18946.hp2 NA18949.hp2 NA18951.hp2 NA18955.hp2 NA18957.hp1 NA18962.hp2 NA18965.hp1 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18975.hp2 NA18982.hp2 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18991.hp2 NA18992.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19067.hp2 NA19070.hp1 NA19077.hp1 NA19078.hp2 NA19081.hp1 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0011 others(2): Show a0002c0002 a0002c0004 a0002c0011 a0002c0017 a0002c0018	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(7): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0009 a0002c0004t0001 a0002c0004t0004 a0002c0011t0005 a0002c0017t0001 a0002c0018t0001	a0002c0002t0001g0004 a0002c0002t0001g0009 a0002c0002t0001g0018 others(105): Show a0002c0002t0001g0004 a0002c0002t0001g0009 a0002c0002t0001g0018 a0002c0002t0001g0024 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0029 a0002c0002t0001g0035 a0002c0002t0001g0037 a0002c0002t0001g0048 a0002c0002t0001g0051 a0002c0002t0001g0055 a0002c0002t0001g0060 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0074 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0093 a0002c0002t0001g0097 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0117 a0002c0002t0001g0119 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0140 a0002c0002t0001g0148 a0002c0002t0001g0150 a0002c0002t0001g0155 a0002c0002t0001g0170 a0002c0002t0001g0174 a0002c0002t0001g0183 a0002c0002t0001g0193 a0002c0002t0001g0201 a0002c0002t0001g0214 a0002c0002t0001g0216 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0227 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0271 a0002c0002t0001g0274 a0002c0002t0001g0279 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0290 a0002c0002t0001g0296 a0002c0002t0001g0310 a0002c0002t0001g0317 a0002c0002t0001g0320 a0002c0002t0001g0335 a0002c0002t0001g0337 a0002c0002t0001g0338 a0002c0002t0002g0228 a0002c0002t0003g0321 a0002c0002t0007g0297 a0002c0002t0009g0225 a0002c0004t0001g0001 a0002c0004t0001g0030 a0002c0004t0001g0038 a0002c0004t0001g0053 a0002c0004t0001g0061 a0002c0004t0001g0070 a0002c0004t0001g0072 a0002c0004t0001g0077 a0002c0004t0001g0078 a0002c0004t0001g0081 a0002c0004t0001g0094 a0002c0004t0001g0095 a0002c0004t0001g0106 a0002c0004t0001g0169 a0002c0004t0001g0179 a0002c0004t0001g0242 a0002c0004t0001g0243 a0002c0004t0001g0251 a0002c0004t0001g0253 a0002c0004t0001g0259 a0002c0004t0001g0261 a0002c0004t0001g0262 a0002c0004t0001g0263 a0002c0004t0001g0267 a0002c0004t0001g0268 a0002c0004t0001g0270 a0002c0004t0001g0273 a0002c0004t0001g0275 a0002c0004t0001g0280 a0002c0004t0001g0289 a0002c0004t0001g0294 a0002c0004t0001g0318 a0002c0004t0001g0326 a0002c0004t0001g0334 a0002c0004t0004g0234 a0002c0004t0004g0237 a0002c0004t0004g0238 a0002c0004t0004g0241 a0002c0011t0005g0043 a0002c0011t0005g0336 a0002c0017t0001g0025 a0002c0018t0001g0293	110	364	0.3022	c.7G> others(1): Show c.7G>T	p.Ala others(4): Show p.Ala3Ser	ACTL8	ENSG00000117148.8	transcript	ENST00000375406.2	protein_coding	2/3	203/1841	7/1101	3/366	chr1	TogoVar
ACTL8_chr1_17750333_17832063	17823297	C C	T T	missense_variant missense_variant	MODERATE	HG02735.hp2 HG02735.hp2	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0001 a0004c0015t0001	a0004c0015t0001g0125 a0004c0015t0001g0125	1	364	0.0027	c.289 others(3): Show c.289C>T	p.Pro others(5): Show p.Pro97Ser	ACTL8	ENSG00000117148.8	transcript	ENST00000375406.2	protein_coding	2/3	485/1841	289/1101	97/366	chr1	TogoVar
ACTL8_chr1_17750333_17832063	17823340	G G	A A	missense_variant missense_variant	MODERATE	NA18979.hp2 NA18979.hp2	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0001	a0006c0013t0001g0163 a0006c0013t0001g0163	1	364	0.0027	c.332 others(3): Show c.332G>A	p.Arg others(6): Show p.Arg111Gln	ACTL8	ENSG00000117148.8	transcript	ENST00000375406.2	protein_coding	2/3	528/1841	332/1101	111/366	chr1	TogoVar
ACTL8_chr1_17750333_17832063	17825831	A A	T T	missense_variant missense_variant	MODERATE	NA18993.hp1 NA18993.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0340 a0007c0012t0001g0340	1	364	0.0027	c.413 others(3): Show c.413A>T	p.Tyr others(6): Show p.Tyr138Phe	ACTL8	ENSG00000117148.8	transcript	ENST00000375406.2	protein_coding	3/3	609/1841	413/1101	138/366	chr1	TogoVar
ACTL8_chr1_17750333_17832063	17826151	C C	T T	missense_variant missense_variant	MODERATE	HG00597.hp2 HG02155.hp1 NA18957.hp2 others(3): Show HG00597.hp2 HG02155.hp1 NA18957.hp2 NA18984.hp1 NA18994.hp1 NA19056.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0047 a0003c0007t0001g0050 a0003c0007t0001g0146 others(3): Show a0003c0007t0001g0047 a0003c0007t0001g0050 a0003c0007t0001g0146 a0003c0007t0001g0199 a0003c0007t0001g0200 a0003c0007t0001g0213	6	364	0.0165	c.733 others(3): Show c.733C>T	p.Arg others(6): Show p.Arg245Cys	ACTL8	ENSG00000117148.8	transcript	ENST00000375406.2	protein_coding	3/3	929/1841	733/1101	245/366	chr1	TogoVar
ACTL8_chr1_17750333_17832063	17826414	T T	A A	missense_variant missense_variant	MODERATE	NA18993.hp1 NA18993.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0340 a0007c0012t0001g0340	1	364	0.0027	c.996 others(3): Show c.996T>A	p.Asn others(6): Show p.Asn332Lys	ACTL8	ENSG00000117148.8	transcript	ENST00000375406.2	protein_coding	3/3	1192/1841	996/1101	332/366	chr1	TogoVar
ACTL8_chr1_17750333_17832063	17826482	T T	C C	missense_variant missense_variant	MODERATE	NA18953.hp2 NA18953.hp2	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0001 a0005c0014t0001	a0005c0014t0001g0221 a0005c0014t0001g0221	1	364	0.0027	c.106 others(4): Show c.1064T>C	p.Met others(6): Show p.Met355Thr	ACTL8	ENSG00000117148.8	transcript	ENST00000375406.2	protein_coding	3/3	1260/1841	1064/1101	355/366	chr1	TogoVar
ACTL9_chr19_8692400_8703795	8697890	C C	G G	missense_variant missense_variant	MODERATE	HG01123.hp1 HG01168.hp1 HG01123.hp1 HG01168.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0000 a0004c0005t0001g0000	2	353	0.0057	c.812 others(3): Show c.812G>C	p.Arg others(6): Show p.Arg271Pro	ACTL9	ENSG00000181786.6	transcript	ENST00000324436.5	protein_coding	1/1	906/1396	812/1251	271/416	chr19	TogoVar
ACTL9_chr19_8692400_8703795	8697890	C C	T T	missense_variant missense_variant	MODERATE	NA19240.hp1 NA19240.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0002 a0009c0009t0002	a0009c0009t0002g0000 a0009c0009t0002g0000	1	352	0.0028	c.812 others(3): Show c.812G>A	p.Arg others(6): Show p.Arg271Gln	ACTL9	ENSG00000181786.6	transcript	ENST00000324436.5	protein_coding	1/1	906/1396	812/1251	271/416	chr19	TogoVar
ACTL9_chr19_8692400_8703795	8697946	C C	G G	missense_variant missense_variant	MODERATE	HG03453.hp2 HG03453.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0000 a0006c0008t0001g0000	1	354	0.0028	c.756 others(3): Show c.756G>C	p.Glu others(6): Show p.Glu252Asp	ACTL9	ENSG00000181786.6	transcript	ENST00000324436.5	protein_coding	1/1	850/1396	756/1251	252/416	chr19	TogoVar
ACTL9_chr19_8692400_8703795	8698023	T T	G G	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(142): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02273.hp2 HG02293.hp1 HG02451.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03579.hp1 HG03669.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 NA18522.hp2 NA18906.hp1 NA18944.hp1 NA18948.hp1 NA18950.hp1 NA18952.hp1 NA18959.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18989.hp2 NA18990.hp1 NA18992.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19078.hp2 NA19082.hp1 NA19084.hp1 NA19085.hp2 NA19086.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp2 NA20300.hp1 NA20905.hp2	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0005	a0002c0002 a0002c0004 a0002c0006 others(4): Show a0002c0002 a0002c0004 a0002c0006 a0002c0011 a0003c0003 a0004c0005 a0005c0016	a0002c0002t0001 a0002c0002t0003 a0002c0004t0001 others(5): Show a0002c0002t0001 a0002c0002t0003 a0002c0004t0001 a0002c0006t0001 a0002c0011t0001 a0003c0003t0001 a0004c0005t0001 a0005c0016t0001	a0002c0002t0001g0000 a0002c0002t0003g0000 a0002c0004t0001g0000 others(5): Show a0002c0002t0001g0000 a0002c0002t0003g0000 a0002c0004t0001g0000 a0002c0006t0001g0000 a0002c0011t0001g0000 a0003c0003t0001g0000 a0004c0005t0001g0000 a0005c0016t0001g0000	145	354	0.4096	c.679 others(3): Show c.679A>C	p.Asn others(6): Show p.Asn227His	ACTL9	ENSG00000181786.6	transcript	ENST00000324436.5	protein_coding	1/1	773/1396	679/1251	227/416	chr19	TogoVar
ACTL9_chr19_8692400_8703795	8698275	C C	T T	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00140.hp2	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0001 a0005c0016t0001	a0005c0016t0001g0000 a0005c0016t0001g0000	1	354	0.0028	c.427 others(3): Show c.427G>A	p.Asp others(6): Show p.Asp143Asn	ACTL9	ENSG00000181786.6	transcript	ENST00000324436.5	protein_coding	1/1	521/1396	427/1251	143/416	chr19	TogoVar
ACTL9_chr19_8692400_8703795	8698277	T T	G G	missense_variant missense_variant	MODERATE	NA19078.hp1 NA19078.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0000 a0008c0013t0001g0000	1	354	0.0028	c.425 others(3): Show c.425A>C	p.His others(6): Show p.His142Pro	ACTL9	ENSG00000181786.6	transcript	ENST00000324436.5	protein_coding	1/1	519/1396	425/1251	142/416	chr19	TogoVar
ACTL9_chr19_8692400_8703795	8698356	T T	C C	missense_variant missense_variant	MODERATE	HG04228.hp2 HG04228.hp2	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0002 a0007c0014t0002	a0007c0014t0002g0000 a0007c0014t0002g0000	1	354	0.0028	c.346 others(3): Show c.346A>G	p.Ser others(6): Show p.Ser116Gly	ACTL9	ENSG00000181786.6	transcript	ENST00000324436.5	protein_coding	1/1	440/1396	346/1251	116/416	chr19	TogoVar
ACTL9_chr19_8692400_8703795	8698550	G G	A A	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00323.hp1 HG00558.hp2 others(64): Show HG00140.hp2 HG00323.hp1 HG00558.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01934.hp1 HG01943.hp2 HG01981.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp2 HG02451.hp1 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02735.hp2 HG02738.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03486.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp2 HG04115.hp1 NA18948.hp1 NA18959.hp1 NA18964.hp2 NA18989.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp2 NA19002.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp2 NA19070.hp2 NA19085.hp2 NA19086.hp2 NA19091.hp1 NA20300.hp1 NA20905.hp2	a0003 a0004 a0005 a0003 a0004 a0005	a0003c0003 a0004c0005 a0005c0016 a0003c0003 a0004c0005 a0005c0016	a0003c0003t0001 a0004c0005t0001 a0005c0016t0001 a0003c0003t0001 a0004c0005t0001 a0005c0016t0001	a0003c0003t0001g0000 a0004c0005t0001g0000 a0005c0016t0001g0000 a0003c0003t0001g0000 a0004c0005t0001g0000 a0005c0016t0001g0000	67	354	0.1893	c.152 others(3): Show c.152C>T	p.Ala others(5): Show p.Ala51Val	ACTL9	ENSG00000181786.6	transcript	ENST00000324436.5	protein_coding	1/1	246/1396	152/1251	51/416	chr19	TogoVar
ACTL9_chr19_8692400_8703795	8698592	G G	A A	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00323.hp1 HG00558.hp2 others(64): Show HG00140.hp2 HG00323.hp1 HG00558.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01934.hp1 HG01943.hp2 HG01981.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp2 HG02451.hp1 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02735.hp2 HG02738.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03486.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp2 HG04115.hp1 NA18948.hp1 NA18959.hp1 NA18964.hp2 NA18989.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp2 NA19002.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp2 NA19070.hp2 NA19085.hp2 NA19086.hp2 NA19091.hp1 NA20300.hp1 NA20905.hp2	a0003 a0004 a0005 a0003 a0004 a0005	a0003c0003 a0004c0005 a0005c0016 a0003c0003 a0004c0005 a0005c0016	a0003c0003t0001 a0004c0005t0001 a0005c0016t0001 a0003c0003t0001 a0004c0005t0001 a0005c0016t0001	a0003c0003t0001g0000 a0004c0005t0001g0000 a0005c0016t0001g0000 a0003c0003t0001g0000 a0004c0005t0001g0000 a0005c0016t0001g0000	67	354	0.1893	c.110 others(3): Show c.110C>T	p.Ser others(5): Show p.Ser37Phe	ACTL9	ENSG00000181786.6	transcript	ENST00000324436.5	protein_coding	1/1	204/1396	110/1251	37/416	chr19	TogoVar

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