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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
ARHGEF5_chr7_144350402_144385632	144365352	C C	T T	missense_variant missense_variant	MODERATE	HG01975.hp2 HG01975.hp2	a0041 a0041	a0041c0037 a0041c0037	a0041c0037t0002 a0041c0037t0002	a0041c0037t0002g0145 a0041c0037t0002g0145	1	288	0.0035	c.268 others(4): Show c.2683C>T	p.Arg others(6): Show p.Arg895Cys	ARHGEF5	ENSG00000050327.15	transcript	ENST00000056217.10	protein_coding	2/15	2795/5482	2683/4794	895/1597	chr7	TogoVar
ARHGEF5_chr7_144350402_144385632	144365490	T T	G G	missense_variant missense_variant	MODERATE	NA19083.hp2 NA19083.hp2	a0026 a0026	a0026c0060 a0026c0060	a0026c0060t0001 a0026c0060t0001	a0026c0060t0001g0177 a0026c0060t0001g0177	1	288	0.0035	c.282 others(4): Show c.2821T>G	p.Trp others(6): Show p.Trp941Gly	ARHGEF5	ENSG00000050327.15	transcript	ENST00000056217.10	protein_coding	2/15	2933/5482	2821/4794	941/1597	chr7	TogoVar
ARHGEF5_chr7_144350402_144385632	144365640	C C	G G	missense_variant missense_variant	MODERATE	HG01099.hp1 HG01515.hp1 HG01517.hp1 HG01099.hp1 HG01515.hp1 HG01517.hp1	a0014 a0014	a0014c0015 a0014c0015	a0014c0015t0002 a0014c0015t0002	a0014c0015t0002g0004 a0014c0015t0002g0019 a0014c0015t0002g0004 a0014c0015t0002g0019	3	288	0.0104	c.297 others(4): Show c.2971C>G	p.Pro others(6): Show p.Pro991Ala	ARHGEF5	ENSG00000050327.15	transcript	ENST00000056217.10	protein_coding	2/15	3083/5482	2971/4794	991/1597	chr7	TogoVar
ARHGEF5_chr7_144350402_144385632	144365641	C C	A A	missense_variant missense_variant	MODERATE	HG01099.hp1 HG01515.hp1 HG01517.hp1 HG01099.hp1 HG01515.hp1 HG01517.hp1	a0014 a0014	a0014c0015 a0014c0015	a0014c0015t0002 a0014c0015t0002	a0014c0015t0002g0004 a0014c0015t0002g0019 a0014c0015t0002g0004 a0014c0015t0002g0019	3	288	0.0104	c.297 others(4): Show c.2972C>A	p.Pro others(6): Show p.Pro991Gln	ARHGEF5	ENSG00000050327.15	transcript	ENST00000056217.10	protein_coding	2/15	3084/5482	2972/4794	991/1597	chr7	TogoVar
ARHGEF5_chr7_144350402_144385632	144365751	G G	T T	missense_variant missense_variant	MODERATE	HG00642.hp2 HG00642.hp2	a0039 a0039	a0039c0038 a0039c0038	a0039c0038t0002 a0039c0038t0002	a0039c0038t0002g0032 a0039c0038t0002g0032	1	288	0.0035	c.308 others(4): Show c.3082G>T	p.Gly others(7): Show p.Gly1028Trp	ARHGEF5	ENSG00000050327.15	transcript	ENST00000056217.10	protein_coding	2/15	3194/5482	3082/4794	1028/1597	chr7	TogoVar
ARHGEF5_chr7_144350402_144385632	144367261	T T	C C	missense_variant missense_variant	MODERATE	HG02723.hp2 HG02723.hp2	a0045 a0045	a0045c0033 a0045c0033	a0045c0033t0002 a0045c0033t0002	a0045c0033t0002g0135 a0045c0033t0002g0135	1	288	0.0035	c.343 others(4): Show c.3437T>C	p.Met others(7): Show p.Met1146Thr	ARHGEF5	ENSG00000050327.15	transcript	ENST00000056217.10	protein_coding	5/15	3549/5482	3437/4794	1146/1597	chr7	TogoVar
ARHGEF5_chr7_144350402_144385632	144367296	G G	A A	missense_variant missense_variant	MODERATE	HG03209.hp1 HG03209.hp1	a0022 a0022	a0022c0058 a0022c0058	a0022c0058t0001 a0022c0058t0001	a0022c0058t0001g0098 a0022c0058t0001g0098	1	288	0.0035	c.347 others(4): Show c.3472G>A	p.Val others(7): Show p.Val1158Met	ARHGEF5	ENSG00000050327.15	transcript	ENST00000056217.10	protein_coding	5/15	3584/5482	3472/4794	1158/1597	chr7	TogoVar
ARHGEF5_chr7_144350402_144385632	144371236	T T	A A	missense_variant missense_variant	MODERATE	HG02040.hp1 HG02040.hp1	a0042 a0042	a0042c0035 a0042c0035	a0042c0035t0002 a0042c0035t0002	a0042c0035t0002g0146 a0042c0035t0002g0146	1	288	0.0035	c.360 others(4): Show c.3607T>A	p.Ser others(7): Show p.Ser1203Thr	ARHGEF5	ENSG00000050327.15	transcript	ENST00000056217.10	protein_coding	6/15	3719/5482	3607/4794	1203/1597	chr7	TogoVar
ARHGEF5_chr7_144350402_144385632	144379913	G G	A A	missense_variant missense_variant	MODERATE	NA18962.hp1 NA18962.hp1	a0025 a0025	a0025c0062 a0025c0062	a0025c0062t0001 a0025c0062t0001	a0025c0062t0001g0024 a0025c0062t0001g0024	1	288	0.0035	c.465 others(4): Show c.4651G>A	p.Val others(7): Show p.Val1551Met	ARHGEF5	ENSG00000050327.15	transcript	ENST00000056217.10	protein_coding	15/15	4763/5482	4651/4794	1551/1597	chr7	TogoVar
ARHGEF6_chrX_136660550_136785932	136681946	G G	A A	missense_variant missense_variant	MODERATE	HG02976.hp2 NA20300.hp1 HG02976.hp2 NA20300.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0002 a0003c0003t0001 a0003c0003t0002	a0003c0003t0001g0180 a0003c0003t0002g0212 a0003c0003t0001g0180 a0003c0003t0002g0212	2	247	0.0081	c.150 others(4): Show c.1502C>T	p.Thr others(6): Show p.Thr501Met	ARHGEF6	ENSG00000129675.16	transcript	ENST00000250617.7	protein_coding	14/22	1552/4860	1502/2331	501/776	chrX	TogoVar
ARHGEF6_chrX_136660550_136785932	136682832	G G	C C	missense_variant missense_variant	MODERATE	NA19076.hp1 NA19076.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0124 a0006c0008t0001g0124	1	247	0.0041	c.140 others(4): Show c.1405C>G	p.Arg others(6): Show p.Arg469Gly	ARHGEF6	ENSG00000129675.16	transcript	ENST00000250617.7	protein_coding	13/22	1455/4860	1405/2331	469/776	chrX	TogoVar
ARHGEF6_chrX_136660550_136785932	136687987	G G	C C	missense_variant missense_variant	MODERATE	HG03239.hp1 HG03239.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0006 a0005c0009t0006	a0005c0009t0006g0086 a0005c0009t0006g0086	1	247	0.0041	c.119 others(4): Show c.1190C>G	p.Thr others(6): Show p.Thr397Ser	ARHGEF6	ENSG00000129675.16	transcript	ENST00000250617.7	protein_coding	11/22	1240/4860	1190/2331	397/776	chrX	TogoVar
ARHGEF6_chrX_136660550_136785932	136708707	C C	A A	missense_variant missense_variant	MODERATE	HG02451.hp1 HG02809.hp2 HG02451.hp1 HG02809.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0013 a0002c0004t0001 a0002c0004t0013	a0002c0004t0001g0128 a0002c0004t0013g0172 a0002c0004t0001g0128 a0002c0004t0013g0172	2	247	0.0081	c.891 others(3): Show c.891G>T	p.Gln others(6): Show p.Gln297His	ARHGEF6	ENSG00000129675.16	transcript	ENST00000250617.7	protein_coding	8/22	941/4860	891/2331	297/776	chrX	TogoVar
ARHGEF6_chrX_136660550_136785932	136732149	C C	T T	missense_variant missense_variant	MODERATE	NA18980.hp1 NA18980.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0093 a0004c0005t0001g0093	1	247	0.0041	c.685 others(3): Show c.685G>A	p.Val others(6): Show p.Val229Ile	ARHGEF6	ENSG00000129675.16	transcript	ENST00000250617.7	protein_coding	6/22	735/4860	685/2331	229/776	chrX	TogoVar
ARHGEF7_chr13_111110310_111310732	111115611	G G	A A	missense_variant missense_variant	MODERATE	HG03486.hp2 HG03486.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0095 a0007c0010t0001g0095	1	274	0.0037	c.85G others(2): Show c.85G>A	p.Gly others(5): Show p.Gly29Ser	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	1/22	302/5425	85/2589	29/862	chr13	TogoVar
ARHGEF7_chr13_111110310_111310732	111115624	C C	T T	missense_variant missense_variant	MODERATE	HG03669.hp2 HG03669.hp2	a0006 a0006	a0006c0019 a0006c0019	a0006c0019t0002 a0006c0019t0002	a0006c0019t0002g0175 a0006c0019t0002g0175	1	274	0.0037	c.98C others(2): Show c.98C>T	p.Ala others(5): Show p.Ala33Val	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	1/22	315/5425	98/2589	33/862	chr13	TogoVar
ARHGEF7_chr13_111110310_111310732	111209950	A A	T T	missense_variant missense_variant	MODERATE	HG03486.hp1 HG03579.hp1 HG03486.hp1 HG03579.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0069 a0002c0009t0002g0112 a0002c0009t0002g0069 a0002c0009t0002g0112	2	274	0.0073	c.416 others(3): Show c.416A>T	p.Gln others(6): Show p.Gln139Leu	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	4/22	633/5425	416/2589	139/862	chr13	TogoVar
ARHGEF7_chr13_111110310_111310732	111209964	C C	T T	missense_variant missense_variant	MODERATE	HG01069.hp2 HG01069.hp2	a0005 a0005	a0005c0018 a0005c0018	a0005c0018t0013 a0005c0018t0013	a0005c0018t0013g0187 a0005c0018t0013g0187	1	274	0.0037	c.430 others(3): Show c.430C>T	p.Arg others(6): Show p.Arg144Trp	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	4/22	647/5425	430/2589	144/862	chr13	TogoVar
ARHGEF7_chr13_111110310_111310732	111217801	G G	C C	missense_variant missense_variant	MODERATE	NA19010.hp1 NA19010.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0005 a0003c0011t0005	a0003c0011t0005g0191 a0003c0011t0005g0191	1	274	0.0037	c.591 others(3): Show c.591G>C	p.Glu others(6): Show p.Glu197Asp	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	5/22	808/5425	591/2589	197/862	chr13	TogoVar
ARHGEF7_chr13_111110310_111310732	111267661	C C	T T	missense_variant missense_variant	MODERATE	HG03942.hp1 HG03942.hp1	a0004 a0004	a0004c0017 a0004c0017	a0004c0017t0003 a0004c0017t0003	a0004c0017t0003g0120 a0004c0017t0003g0120	1	274	0.0037	c.106 others(4): Show c.1064C>T	p.Thr others(6): Show p.Thr355Met	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	9/22	1281/5425	1064/2589	355/862	chr13	TogoVar
ARHGEF9_chrX_63629967_63790214	63724693	T T	C C	missense_variant missense_variant	MODERATE	HG02809.hp2 HG02809.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0022 a0003c0003t0022	a0003c0003t0022g0038 a0003c0003t0022g0038	1	168	0.0060	c.49A others(2): Show c.49A>G	p.Ile others(5): Show p.Ile17Val	ARHGEF9	ENSG00000131089.17	transcript	ENST00000671741.2	protein_coding	2/10	118/4702	49/1572	17/523	chrX	TogoVar
ARID1A_chr1_26691015_26787104	26696761	C C	T T	missense_variant missense_variant	MODERATE	HG03130.hp2 NA19030.hp1 HG03130.hp2 NA19030.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0025 a0004c0005t0001g0026 a0004c0005t0001g0025 a0004c0005t0001g0026	2	146	0.0137	c.358 others(3): Show c.358C>T	p.Pro others(6): Show p.Pro120Ser	ARID1A	ENSG00000117713.21	transcript	ENST00000324856.13	protein_coding	1/20	747/8595	358/6858	120/2285	chr1	TogoVar
ARID1A_chr1_26691015_26787104	26697003	G G	T T	missense_variant missense_variant	MODERATE	NA20752.hp1 NA20752.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0001 a0005c0013t0001	a0005c0013t0001g0040 a0005c0013t0001g0040	1	146	0.0069	c.600 others(3): Show c.600G>T	p.Gln others(6): Show p.Gln200His	ARID1A	ENSG00000117713.21	transcript	ENST00000324856.13	protein_coding	1/20	989/8595	600/6858	200/2285	chr1	TogoVar
ARID1A_chr1_26691015_26787104	26761058	A A	C C	missense_variant missense_variant	MODERATE	HG04199.hp1 NA20905.hp2 HG04199.hp1 NA20905.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0048 a0002c0004t0001g0071 a0002c0004t0001g0048 a0002c0004t0001g0071	2	146	0.0137	c.212 others(4): Show c.2123A>C	p.Gln others(6): Show p.Gln708Pro	ARID1A	ENSG00000117713.21	transcript	ENST00000324856.13	protein_coding	5/20	2512/8595	2123/6858	708/2285	chr1	TogoVar
ARID1A_chr1_26691015_26787104	26766459	A A	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00741.hp1 HG00741.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0122 a0006c0011t0001g0122	1	146	0.0069	c.288 others(4): Show c.2881A>C	p.Met others(6): Show p.Met961Leu	ARID1A	ENSG00000117713.21	transcript	ENST00000324856.13	protein_coding	10/20	3270/8595	2881/6858	961/2285	chr1	TogoVar
ARID1A_chr1_26691015_26787104	26775697	A A	G G	missense_variant missense_variant	MODERATE	HG02280.hp2 HG02451.hp1 HG02280.hp2 HG02451.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0008 a0003c0003t0001g0123 a0003c0003t0001g0008 a0003c0003t0001g0123	2	146	0.0137	c.511 others(4): Show c.5114A>G	p.Asn others(7): Show p.Asn1705Ser	ARID1A	ENSG00000117713.21	transcript	ENST00000324856.13	protein_coding	19/20	5503/8595	5114/6858	1705/2285	chr1	TogoVar
ARID1B_chr6_156772378_157215779	156777738	G G	A A	missense_variant missense_variant	MODERATE	HG02647.hp2 HG03209.hp1 HG03579.hp2 HG02647.hp2 HG03209.hp1 HG03579.hp2	a0008 a0029 a0008 a0029	a0008c0005 a0029c0013 a0008c0005 a0029c0013	a0008c0005t0002 a0029c0013t0009 a0008c0005t0002 a0029c0013t0009	a0008c0005t0002g0043 a0008c0005t0002g0052 a0029c0013t0009g0044 a0008c0005t0002g0043 a0008c0005t0002g0052 a0029c0013t0009g0044	3	150	0.0200	c.58G others(2): Show c.58G>A	p.Ala others(5): Show p.Ala20Thr	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	1/20	361/10310	58/7119	20/2372	chr6	TogoVar
ARID1B_chr6_156772378_157215779	156777784	C C	T T	missense_variant missense_variant	MODERATE	HG03041.hp1 HG03041.hp1	a0009 a0009	a0009c0041 a0009c0041	a0009c0041t0005 a0009c0041t0005	a0009c0041t0005g0008 a0009c0041t0005g0008	1	150	0.0067	c.104 others(3): Show c.104C>T	p.Pro others(5): Show p.Pro35Leu	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	1/20	407/10310	104/7119	35/2372	chr6	TogoVar
ARID1B_chr6_156772378_157215779	156777879	G G	A A	missense_variant missense_variant	MODERATE	HG01891.hp2 HG02055.hp2 HG02109.hp2 others(3): Show HG01891.hp2 HG02055.hp2 HG02109.hp2 HG02818.hp1 HG03195.hp2 NA20300.hp1	a0002 a0002	a0002c0003 a0002c0014 a0002c0003 a0002c0014	a0002c0003t0002 a0002c0003t0009 a0002c0003t0018 others(1): Show a0002c0003t0002 a0002c0003t0009 a0002c0003t0018 a0002c0014t0002	a0002c0003t0002g0027 a0002c0003t0002g0054 a0002c0003t0009g0010 others(3): Show a0002c0003t0002g0027 a0002c0003t0002g0054 a0002c0003t0009g0010 a0002c0003t0009g0053 a0002c0003t0018g0028 a0002c0014t0002g0029	6	150	0.0400	c.199 others(3): Show c.199G>A	p.Gly others(5): Show p.Gly67Ser	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	1/20	502/10310	199/7119	67/2372	chr6	TogoVar
ARID1B_chr6_156772378_157215779	156777890	T T	G G	missense_variant missense_variant	MODERATE	HG02145.hp2 HG02145.hp2	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0002 a0010c0015t0002	a0010c0015t0002g0015 a0010c0015t0002g0015	1	150	0.0067	c.210 others(3): Show c.210T>G	p.Ser others(5): Show p.Ser70Arg	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	1/20	513/10310	210/7119	70/2372	chr6	TogoVar
ARID1B_chr6_156772378_157215779	156829362	A A	G G	missense_variant missense_variant	MODERATE	HG01884.hp1 HG01884.hp1	a0019 a0019	a0019c0027 a0019c0027	a0019c0027t0001 a0019c0027t0001	a0019c0027t0001g0112 a0019c0027t0001g0112	1	150	0.0067	c.192 others(4): Show c.1927A>G	p.Ile others(6): Show p.Ile643Val	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	2/20	2230/10310	1927/7119	643/2372	chr6	TogoVar
ARID1B_chr6_156772378_157215779	157084825	G G	C C	missense_variant missense_variant	MODERATE	HG04115.hp1 HG04115.hp1	a0012 a0012	a0012c0020 a0012c0020	a0012c0020t0001 a0012c0020t0001	a0012c0020t0001g0118 a0012c0020t0001g0118	1	150	0.0067	c.241 others(4): Show c.2411G>C	p.Gly others(6): Show p.Gly804Ala	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	5/20	2714/10310	2411/7119	804/2372	chr6	TogoVar
ARID1B_chr6_156772378_157215779	157133075	C C	T T	missense_variant missense_variant	MODERATE	HG02809.hp1 HG02809.hp1	a0018 a0018	a0018c0026 a0018c0026	a0018c0026t0016 a0018c0026t0016	a0018c0026t0016g0061 a0018c0026t0016g0061	1	150	0.0067	c.262 others(4): Show c.2629C>T	p.Pro others(6): Show p.Pro877Ser	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	7/20	2932/10310	2629/7119	877/2372	chr6	TogoVar
ARID1B_chr6_156772378_157215779	157133100	C C	T T	missense_variant missense_variant	MODERATE	HG02630.hp1 HG02630.hp1	a0013 a0013	a0013c0025 a0013c0025	a0013c0025t0005 a0013c0025t0005	a0013c0025t0005g0133 a0013c0025t0005g0133	1	150	0.0067	c.265 others(4): Show c.2654C>T	p.Ser others(6): Show p.Ser885Leu	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	7/20	2957/10310	2654/7119	885/2372	chr6	TogoVar
ARID1B_chr6_156772378_157215779	157148875	A A	G G	missense_variant missense_variant	MODERATE	HG02083.hp1 HG02083.hp1	a0017 a0017	a0017c0019 a0017c0019	a0017c0019t0001 a0017c0019t0001	a0017c0019t0001g0087 a0017c0019t0001g0087	1	150	0.0067	c.301 others(4): Show c.3013A>G	p.Met others(7): Show p.Met1005Val	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	8/20	3316/10310	3013/7119	1005/2372	chr6	TogoVar
ARID1B_chr6_156772378_157215779	157167056	G G	A A	missense_variant missense_variant	MODERATE	HG02622.hp2 HG02895.hp2 HG02896.hp1 others(1): Show HG02622.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2	a0005 a0027 a0005 a0027	a0005c0004 a0027c0037 a0005c0004 a0027c0037	a0005c0004t0008 a0027c0037t0019 a0005c0004t0008 a0027c0037t0019	a0005c0004t0008g0001 a0005c0004t0008g0002 a0005c0004t0008g0007 others(1): Show a0005c0004t0008g0001 a0005c0004t0008g0002 a0005c0004t0008g0007 a0027c0037t0019g0046	4	150	0.0267	c.310 others(4): Show c.3106G>A	p.Gly others(7): Show p.Gly1036Ser	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	9/20	3409/10310	3106/7119	1036/2372	chr6	TogoVar
ARID1B_chr6_156772378_157215779	157201089	A A	T T	missense_variant missense_variant	MODERATE	HG02622.hp2 HG02717.hp2 HG02818.hp2 others(4): Show HG02622.hp2 HG02717.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG03486.hp1	a0005 a0014 a0023 others(2): Show a0005 a0014 a0023 a0025 a0027	a0005c0004 a0014c0024 a0023c0036 others(2): Show a0005c0004 a0014c0024 a0023c0036 a0025c0039 a0027c0037	a0005c0004t0008 a0014c0024t0023 a0023c0036t0017 others(2): Show a0005c0004t0008 a0014c0024t0023 a0023c0036t0017 a0025c0039t0021 a0027c0037t0019	a0005c0004t0008g0001 a0005c0004t0008g0002 a0005c0004t0008g0007 others(4): Show a0005c0004t0008g0001 a0005c0004t0008g0002 a0005c0004t0008g0007 a0014c0024t0023g0012 a0023c0036t0017g0006 a0025c0039t0021g0047 a0027c0037t0019g0046	7	150	0.0467	c.486 others(4): Show c.4864A>T	p.Met others(7): Show p.Met1622Leu	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	18/20	5167/10310	4864/7119	1622/2372	chr6	TogoVar
ARID1B_chr6_156772378_157215779	157206216	T T	C C	missense_variant missense_variant	MODERATE	NA18948.hp2 NA18948.hp2	a0016 a0016	a0016c0022 a0016c0022	a0016c0022t0001 a0016c0022t0001	a0016c0022t0001g0090 a0016c0022t0001g0090	1	150	0.0067	c.544 others(4): Show c.5444T>C	p.Ile others(7): Show p.Ile1815Thr	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	20/20	5747/10310	5444/7119	1815/2372	chr6	TogoVar
ARID1B_chr6_156772378_157215779	157206240	A A	G G	missense_variant missense_variant	MODERATE	HG02559.hp2 HG02559.hp2	a0022 a0022	a0022c0034 a0022c0034	a0022c0034t0002 a0022c0034t0002	a0022c0034t0002g0048 a0022c0034t0002g0048	1	150	0.0067	c.546 others(4): Show c.5468A>G	p.Glu others(7): Show p.Glu1823Gly	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	20/20	5771/10310	5468/7119	1823/2372	chr6	TogoVar
ARID1B_chr6_156772378_157215779	157206348	A A	C C	missense_variant missense_variant	MODERATE	HG01109.hp2 HG02109.hp1 HG02559.hp2 others(1): Show HG01109.hp2 HG02109.hp1 HG02559.hp2 HG03471.hp1	a0011 a0015 a0021 others(1): Show a0011 a0015 a0021 a0022	a0011c0030 a0015c0023 a0021c0033 others(1): Show a0011c0030 a0015c0023 a0021c0033 a0022c0034	a0011c0030t0001 a0015c0023t0002 a0021c0033t0002 others(1): Show a0011c0030t0001 a0015c0023t0002 a0021c0033t0002 a0022c0034t0002	a0011c0030t0001g0096 a0015c0023t0002g0014 a0021c0033t0002g0051 others(1): Show a0011c0030t0001g0096 a0015c0023t0002g0014 a0021c0033t0002g0051 a0022c0034t0002g0048	4	150	0.0267	c.557 others(4): Show c.5576A>C	p.Glu others(7): Show p.Glu1859Ala	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	20/20	5879/10310	5576/7119	1859/2372	chr6	TogoVar
ARID2_chr12_45724706_45913037	45836741	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00597.hp1 HG00597.hp1	a0014 a0014	a0014c0019 a0014c0019	a0014c0019t0001 a0014c0019t0001	a0014c0019t0001g0079 a0014c0019t0001g0079	1	318	0.0031	c.773 others(3): Show c.773A>G	p.Glu others(6): Show p.Glu258Gly	ARID2	ENSG00000189079.18	transcript	ENST00000334344.11	protein_coding	8/21	904/8598	773/5508	258/1835	chr12	TogoVar
ARID2_chr12_45724706_45913037	45839421	C C	T T	missense_variant missense_variant	MODERATE	NA20300.hp1 NA20300.hp1	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0001 a0013c0018t0001	a0013c0018t0001g0230 a0013c0018t0001g0230	1	318	0.0031	c.142 others(4): Show c.1423C>T	p.His others(6): Show p.His475Tyr	ARID2	ENSG00000189079.18	transcript	ENST00000334344.11	protein_coding	11/21	1554/8598	1423/5508	475/1835	chr12	TogoVar
ARID2_chr12_45724706_45913037	45849582	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02280.hp1 HG02280.hp1	a0007 a0007	a0007c0017 a0007c0017	a0007c0017t0001 a0007c0017t0001	a0007c0017t0001g0008 a0007c0017t0001g0008	1	318	0.0031	c.171 others(4): Show c.1718C>T	p.Thr others(6): Show p.Thr573Met	ARID2	ENSG00000189079.18	transcript	ENST00000334344.11	protein_coding	14/21	1849/8598	1718/5508	573/1835	chr12	TogoVar
ARID2_chr12_45724706_45913037	45849623	A A	G G	missense_variant missense_variant	MODERATE	HG02135.hp1 NA19001.hp2 HG02135.hp1 NA19001.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0043 a0005c0008t0001g0080 a0005c0008t0001g0043 a0005c0008t0001g0080	2	318	0.0063	c.175 others(4): Show c.1759A>G	p.Ser others(6): Show p.Ser587Gly	ARID2	ENSG00000189079.18	transcript	ENST00000334344.11	protein_coding	14/21	1890/8598	1759/5508	587/1835	chr12	TogoVar
ARID2_chr12_45724706_45913037	45850152	G G	A A	missense_variant missense_variant	MODERATE	NA18957.hp2 NA18986.hp2 NA18957.hp2 NA18986.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0010 a0006c0007t0001g0012 a0006c0007t0001g0010 a0006c0007t0001g0012	2	318	0.0063	c.202 others(4): Show c.2029G>A	p.Val others(6): Show p.Val677Met	ARID2	ENSG00000189079.18	transcript	ENST00000334344.11	protein_coding	15/21	2160/8598	2029/5508	677/1835	chr12	TogoVar
ARID2_chr12_45724706_45913037	45850551	G G	C C	missense_variant missense_variant	MODERATE	NA18747.hp1 NA18956.hp2 NA19077.hp1 NA18747.hp1 NA18956.hp2 NA19077.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0111 a0004c0005t0001g0147 a0004c0005t0001g0169 a0004c0005t0001g0111 a0004c0005t0001g0147 a0004c0005t0001g0169	3	318	0.0094	c.242 others(4): Show c.2428G>C	p.Ala others(6): Show p.Ala810Pro	ARID2	ENSG00000189079.18	transcript	ENST00000334344.11	protein_coding	15/21	2559/8598	2428/5508	810/1835	chr12	TogoVar
ARID2_chr12_45724706_45913037	45850887	A A	G G	missense_variant missense_variant	MODERATE	HG02451.hp1 HG02647.hp2 HG02886.hp1 others(2): Show HG02451.hp1 HG02647.hp2 HG02886.hp1 HG02965.hp1 HG03098.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0018 a0003c0004t0006 a0003c0004t0018	a0003c0004t0006g0105 a0003c0004t0006g0106 a0003c0004t0006g0107 others(2): Show a0003c0004t0006g0105 a0003c0004t0006g0106 a0003c0004t0006g0107 a0003c0004t0006g0108 a0003c0004t0018g0205	5	318	0.0157	c.276 others(4): Show c.2764A>G	p.Thr others(6): Show p.Thr922Ala	ARID2	ENSG00000189079.18	transcript	ENST00000334344.11	protein_coding	15/21	2895/8598	2764/5508	922/1835	chr12	TogoVar
ARID2_chr12_45724706_45913037	45850929	G G	T T	missense_variant missense_variant	MODERATE	NA19078.hp1 NA19078.hp1	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0001 a0008c0015t0001	a0008c0015t0001g0294 a0008c0015t0001g0294	1	318	0.0031	c.280 others(4): Show c.2806G>T	p.Gly others(6): Show p.Gly936Cys	ARID2	ENSG00000189079.18	transcript	ENST00000334344.11	protein_coding	15/21	2937/8598	2806/5508	936/1835	chr12	TogoVar
ARID2_chr12_45724706_45913037	45851868	G G	A A	missense_variant missense_variant	MODERATE	NA18940.hp2 NA18940.hp2	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0001 a0012c0012t0001	a0012c0012t0001g0127 a0012c0012t0001g0127	1	318	0.0031	c.374 others(4): Show c.3745G>A	p.Glu others(7): Show p.Glu1249Lys	ARID2	ENSG00000189079.18	transcript	ENST00000334344.11	protein_coding	15/21	3876/8598	3745/5508	1249/1835	chr12	TogoVar
ARID2_chr12_45724706_45913037	45852423	G G	T T	missense_variant missense_variant	MODERATE	HG00597.hp2 HG00673.hp2 HG02155.hp1 others(10): Show HG00597.hp2 HG00673.hp2 HG02155.hp1 HG02165.hp1 NA18945.hp1 NA18962.hp1 NA19011.hp2 NA19060.hp2 NA19062.hp2 NA19070.hp1 NA19074.hp2 NA19088.hp2 NA19091.hp1	a0002 a0002	a0002c0003 a0002c0020 a0002c0003 a0002c0020	a0002c0003t0001 a0002c0020t0001 a0002c0003t0001 a0002c0020t0001	a0002c0003t0001g0143 a0002c0003t0001g0186 a0002c0003t0001g0210 others(10): Show a0002c0003t0001g0143 a0002c0003t0001g0186 a0002c0003t0001g0210 a0002c0003t0001g0248 a0002c0003t0001g0249 a0002c0003t0001g0250 a0002c0003t0001g0253 a0002c0003t0001g0254 a0002c0003t0001g0255 a0002c0003t0001g0262 a0002c0003t0001g0307 a0002c0003t0001g0308 a0002c0020t0001g0251	13	318	0.0409	c.430 others(4): Show c.4300G>T	p.Ala others(7): Show p.Ala1434Ser	ARID2	ENSG00000189079.18	transcript	ENST00000334344.11	protein_coding	15/21	4431/8598	4300/5508	1434/1835	chr12	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)