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
ANKRD30A_chr10_37120598_37237567	37125927	C C	T T	missense_variant missense_variant	MODERATE	HG02559.hp2 HG02559.hp2	a0018 a0018	a0018c0057 a0018c0057	a0018c0057t0001 a0018c0057t0001	a0018c0057t0001g0168 a0018c0057t0001g0168	1	286	0.0035	c.140 others(3): Show c.140C>T	p.Ser others(5): Show p.Ser47Phe	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	1/36	330/4664	140/4194	47/1397	chr10	TogoVar
ANKRD30A_chr10_37120598_37237567	37130227	C C	T T	missense_variant missense_variant	MODERATE	HG03453.hp1 HG03453.hp1	a0046 a0046	a0046c0056 a0046c0056	a0046c0056t0001 a0046c0056t0001	a0046c0056t0001g0131 a0046c0056t0001g0131	1	286	0.0035	c.359 others(3): Show c.359C>T	p.Ala others(6): Show p.Ala120Val	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	3/36	549/4664	359/4194	120/1397	chr10	TogoVar
ANKRD30A_chr10_37120598_37237567	37130290	C C	T T	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00733.hp2 HG00741.hp2 others(6): Show HG00140.hp2 HG00733.hp2 HG00741.hp2 HG01257.hp2 HG03239.hp2 HG03471.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0001 a0009c0011t0001	a0009c0011t0001g0247 a0009c0011t0001g0248 a0009c0011t0001g0249 others(6): Show a0009c0011t0001g0247 a0009c0011t0001g0248 a0009c0011t0001g0249 a0009c0011t0001g0251 a0009c0011t0001g0252 a0009c0011t0001g0253 a0009c0011t0001g0254 a0009c0011t0001g0255 a0009c0011t0001g0256	9	286	0.0315	c.422 others(3): Show c.422C>T	p.Thr others(6): Show p.Thr141Met	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	3/36	612/4664	422/4194	141/1397	chr10	TogoVar
ANKRD30A_chr10_37120598_37237567	37132271	C C	T T	missense_variant missense_variant	MODERATE	HG01981.hp1 HG02056.hp2 HG03491.hp1 others(13): Show HG01981.hp1 HG02056.hp2 HG03491.hp1 HG03492.hp2 HG03688.hp1 HG03710.hp2 NA18961.hp2 NA18965.hp1 NA18971.hp1 NA18977.hp2 NA18981.hp1 NA19004.hp2 NA19006.hp2 NA19012.hp1 NA19063.hp1 NA19083.hp2	a0004 a0020 a0004 a0020	a0004c0004 a0004c0054 a0020c0053 a0004c0004 a0004c0054 a0020c0053	a0004c0004t0002 a0004c0054t0002 a0020c0053t0002 a0004c0004t0002 a0004c0054t0002 a0020c0053t0002	a0004c0004t0002g0269 a0004c0004t0002g0270 a0004c0004t0002g0271 others(13): Show a0004c0004t0002g0269 a0004c0004t0002g0270 a0004c0004t0002g0271 a0004c0004t0002g0272 a0004c0004t0002g0273 a0004c0004t0002g0274 a0004c0004t0002g0275 a0004c0004t0002g0277 a0004c0004t0002g0278 a0004c0004t0002g0279 a0004c0004t0002g0280 a0004c0004t0002g0283 a0004c0004t0002g0284 a0004c0004t0002g0285 a0004c0054t0002g0268 a0020c0053t0002g0281	16	286	0.0559	c.542 others(3): Show c.542C>T	p.Thr others(6): Show p.Thr181Met	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	4/36	732/4664	542/4194	181/1397	chr10	TogoVar
ANKRD30A_chr10_37120598_37237567	37141982	C C	T T	missense_variant missense_variant	MODERATE	HG02622.hp1 HG02622.hp1	a0021 a0021	a0021c0052 a0021c0052	a0021c0052t0001 a0021c0052t0001	a0021c0052t0001g0132 a0021c0052t0001g0132	1	286	0.0035	c.108 others(4): Show c.1085C>T	p.Thr others(6): Show p.Thr362Met	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	7/36	1275/4664	1085/4194	362/1397	chr10	TogoVar
ANKRD30A_chr10_37120598_37237567	37142062	G G	C C	missense_variant missense_variant	MODERATE	HG03688.hp1 HG03688.hp1	a0020 a0020	a0020c0053 a0020c0053	a0020c0053t0002 a0020c0053t0002	a0020c0053t0002g0281 a0020c0053t0002g0281	1	286	0.0035	c.116 others(4): Show c.1165G>C	p.Glu others(6): Show p.Glu389Gln	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	7/36	1355/4664	1165/4194	389/1397	chr10	TogoVar
ANKRD30A_chr10_37120598_37237567	37149797	C C	G G	missense_variant missense_variant	MODERATE	HG01891.hp1 HG02809.hp1 NA19043.hp1 HG01891.hp1 HG02809.hp1 NA19043.hp1	a0013 a0022 a0013 a0022	a0013c0021 a0022c0051 a0013c0021 a0022c0051	a0013c0021t0001 a0022c0051t0010 a0013c0021t0001 a0022c0051t0010	a0013c0021t0001g0007 a0013c0021t0001g0224 a0022c0051t0010g0208 a0013c0021t0001g0007 a0013c0021t0001g0224 a0022c0051t0010g0208	3	286	0.0105	c.159 others(4): Show c.1593C>G	p.Asn others(6): Show p.Asn531Lys	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	11/36	1783/4664	1593/4194	531/1397	chr10	TogoVar
ANKRD30A_chr10_37120598_37237567	37149818	T T	G G	missense_variant missense_variant	MODERATE	HG03098.hp1 HG03471.hp1 HG03098.hp1 HG03471.hp1	a0044 a0045 a0044 a0045	a0044c0024 a0045c0023 a0044c0024 a0045c0023	a0044c0024t0001 a0045c0023t0001 a0044c0024t0001 a0045c0023t0001	a0044c0024t0001g0006 a0045c0023t0001g0020 a0044c0024t0001g0006 a0045c0023t0001g0020	2	286	0.0070	c.161 others(4): Show c.1614T>G	p.Phe others(6): Show p.Phe538Leu	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	11/36	1804/4664	1614/4194	538/1397	chr10	TogoVar
ANKRD30A_chr10_37120598_37237567	37153636	T T	C C	missense_variant missense_variant	MODERATE	NA18983.hp2 NA18983.hp2	a0043 a0043	a0043c0025 a0043c0025	a0043c0025t0001 a0043c0025t0001	a0043c0025t0001g0092 a0043c0025t0001g0092	1	286	0.0035	c.177 others(4): Show c.1772T>C	p.Ile others(6): Show p.Ile591Thr	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	13/36	1962/4664	1772/4194	591/1397	chr10	TogoVar
ANKRD30A_chr10_37120598_37237567	37158397	C C	G G	missense_variant missense_variant	MODERATE	NA18957.hp1 NA18957.hp1	a0023 a0023	a0023c0050 a0023c0050	a0023c0050t0001 a0023c0050t0001	a0023c0050t0001g0164 a0023c0050t0001g0164	1	286	0.0035	c.180 others(4): Show c.1804C>G	p.Pro others(6): Show p.Pro602Ala	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	14/36	1994/4664	1804/4194	602/1397	chr10	TogoVar
ANKRD30A_chr10_37120598_37237567	37158517	A A	G G	missense_variant missense_variant	MODERATE	HG00423.hp2 HG02015.hp2 HG02040.hp2 others(7): Show HG00423.hp2 HG02015.hp2 HG02040.hp2 HG02135.hp2 HG02165.hp1 HG02523.hp2 NA18747.hp2 NA18941.hp2 NA19004.hp1 NA19081.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0008 a0007c0010t0001 a0007c0010t0008	a0007c0010t0001g0086 a0007c0010t0001g0093 a0007c0010t0001g0094 others(7): Show a0007c0010t0001g0086 a0007c0010t0001g0093 a0007c0010t0001g0094 a0007c0010t0001g0095 a0007c0010t0001g0096 a0007c0010t0001g0097 a0007c0010t0001g0104 a0007c0010t0001g0105 a0007c0010t0001g0127 a0007c0010t0008g0085	10	286	0.0350	c.183 others(4): Show c.1831A>G	p.Thr others(6): Show p.Thr611Ala	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	15/36	2021/4664	1831/4194	611/1397	chr10	TogoVar
ANKRD30A_chr10_37120598_37237567	37158563	A A	T T	missense_variant missense_variant	MODERATE	HG02080.hp2 HG02080.hp2	a0042 a0042	a0042c0049 a0042c0049	a0042c0049t0001 a0042c0049t0001	a0042c0049t0001g0115 a0042c0049t0001g0115	1	286	0.0035	c.187 others(4): Show c.1877A>T	p.Lys others(6): Show p.Lys626Met	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	15/36	2067/4664	1877/4194	626/1397	chr10	TogoVar
ANKRD30A_chr10_37120598_37237567	37162658	G G	A A	missense_variant missense_variant	MODERATE	HG01981.hp1 HG02056.hp2 HG02895.hp1 others(15): Show HG01981.hp1 HG02056.hp2 HG02895.hp1 HG03491.hp1 HG03492.hp2 HG03688.hp1 HG03710.hp2 NA18961.hp2 NA18965.hp1 NA18971.hp1 NA18977.hp2 NA18981.hp1 NA19004.hp2 NA19006.hp2 NA19012.hp1 NA19063.hp1 NA19083.hp2 NA19240.hp2	a0004 a0014 a0020 a0004 a0014 a0020	a0004c0004 a0004c0054 a0014c0015 others(1): Show a0004c0004 a0004c0054 a0014c0015 a0020c0053	a0004c0004t0002 a0004c0054t0002 a0014c0015t0001 others(1): Show a0004c0004t0002 a0004c0054t0002 a0014c0015t0001 a0020c0053t0002	a0004c0004t0002g0269 a0004c0004t0002g0270 a0004c0004t0002g0271 others(15): Show a0004c0004t0002g0269 a0004c0004t0002g0270 a0004c0004t0002g0271 a0004c0004t0002g0272 a0004c0004t0002g0273 a0004c0004t0002g0274 a0004c0004t0002g0275 a0004c0004t0002g0277 a0004c0004t0002g0278 a0004c0004t0002g0279 a0004c0004t0002g0280 a0004c0004t0002g0283 a0004c0004t0002g0284 a0004c0004t0002g0285 a0004c0054t0002g0268 a0014c0015t0001g0276 a0014c0015t0001g0282 a0020c0053t0002g0281	18	286	0.0629	c.191 others(4): Show c.1910G>A	p.Gly others(6): Show p.Gly637Glu	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	16/36	2100/4664	1910/4194	637/1397	chr10	TogoVar
ANKRD30A_chr10_37120598_37237567	37162783	C C	T T	missense_variant missense_variant	MODERATE	NA19079.hp2 NA19079.hp2	a0024 a0024	a0024c0048 a0024c0048	a0024c0048t0001 a0024c0048t0001	a0024c0048t0001g0016 a0024c0048t0001g0016	1	286	0.0035	c.193 others(4): Show c.1937C>T	p.Thr others(6): Show p.Thr646Ile	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	17/36	2127/4664	1937/4194	646/1397	chr10	TogoVar
ANKRD30A_chr10_37120598_37237567	37162796	G G	C C	missense_variant missense_variant	MODERATE	HG02258.hp1 HG02258.hp1	a0041 a0041	a0041c0026 a0041c0026	a0041c0026t0001 a0041c0026t0001	a0041c0026t0001g0015 a0041c0026t0001g0015	1	286	0.0035	c.195 others(4): Show c.1950G>C	p.Lys others(6): Show p.Lys650Asn	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	17/36	2140/4664	1950/4194	650/1397	chr10	TogoVar
ANKRD30A_chr10_37120598_37237567	37162840	T T	G G	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00733.hp2 HG00741.hp2 others(6): Show HG00140.hp2 HG00733.hp2 HG00741.hp2 HG01257.hp2 HG03239.hp2 HG03471.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0001 a0009c0011t0001	a0009c0011t0001g0247 a0009c0011t0001g0248 a0009c0011t0001g0249 others(6): Show a0009c0011t0001g0247 a0009c0011t0001g0248 a0009c0011t0001g0249 a0009c0011t0001g0251 a0009c0011t0001g0252 a0009c0011t0001g0253 a0009c0011t0001g0254 a0009c0011t0001g0255 a0009c0011t0001g0256	9	286	0.0315	c.199 others(4): Show c.1994T>G	p.Leu others(6): Show p.Leu665Trp	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	17/36	2184/4664	1994/4194	665/1397	chr10	TogoVar
ANKRD30A_chr10_37120598_37237567	37165120	C C	G G	missense_variant missense_variant	MODERATE	HG01175.hp1 HG01346.hp2 NA20752.hp1 HG01175.hp1 HG01346.hp2 NA20752.hp1	a0015 a0025 a0015 a0025	a0015c0019 a0025c0046 a0015c0019 a0025c0046	a0015c0019t0001 a0025c0046t0001 a0015c0019t0001 a0025c0046t0001	a0015c0019t0001g0001 a0015c0019t0001g0003 a0025c0046t0001g0002 a0015c0019t0001g0001 a0015c0019t0001g0003 a0025c0046t0001g0002	3	286	0.0105	c.202 others(4): Show c.2029C>G	p.Gln others(6): Show p.Gln677Glu	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	18/36	2219/4664	2029/4194	677/1397	chr10	TogoVar
ANKRD30A_chr10_37120598_37237567	37165121	A A	G G	missense_variant missense_variant	MODERATE	NA18970.hp1 NA18970.hp1	a0040 a0040	a0040c0045 a0040c0045	a0040c0045t0001 a0040c0045t0001	a0040c0045t0001g0160 a0040c0045t0001g0160	1	286	0.0035	c.203 others(4): Show c.2030A>G	p.Gln others(6): Show p.Gln677Arg	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	18/36	2220/4664	2030/4194	677/1397	chr10	TogoVar
ANKRD30A_chr10_37120598_37237567	37165127	A A	G G	missense_variant missense_variant	MODERATE	HG01081.hp1 HG01081.hp1	a0039 a0039	a0039c0044 a0039c0044	a0039c0044t0001 a0039c0044t0001	a0039c0044t0001g0140 a0039c0044t0001g0140	1	286	0.0035	c.203 others(4): Show c.2036A>G	p.Asp others(6): Show p.Asp679Gly	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	18/36	2226/4664	2036/4194	679/1397	chr10	TogoVar
ANKRD30A_chr10_37120598_37237567	37169661	G G	A A	missense_variant missense_variant	MODERATE	NA18950.hp2 NA18950.hp2	a0038 a0038	a0038c0027 a0038c0027	a0038c0027t0001 a0038c0027t0001	a0038c0027t0001g0230 a0038c0027t0001g0230	1	286	0.0035	c.219 others(4): Show c.2194G>A	p.Gly others(6): Show p.Gly732Arg	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	21/36	2384/4664	2194/4194	732/1397	chr10	TogoVar
ANKRD30A_chr10_37120598_37237567	37169682	A A	G G	missense_variant missense_variant	MODERATE	HG02015.hp1 HG02155.hp1 NA18943.hp2 others(1): Show HG02015.hp1 HG02155.hp1 NA18943.hp2 NA19007.hp2	a0012 a0026 a0012 a0026	a0012c0014 a0026c0043 a0012c0014 a0026c0043	a0012c0014t0001 a0026c0043t0001 a0012c0014t0001 a0026c0043t0001	a0012c0014t0001g0112 a0012c0014t0001g0173 a0012c0014t0001g0219 others(1): Show a0012c0014t0001g0112 a0012c0014t0001g0173 a0012c0014t0001g0219 a0026c0043t0001g0133	4	286	0.0140	c.221 others(4): Show c.2215A>G	p.Thr others(6): Show p.Thr739Ala	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	21/36	2405/4664	2215/4194	739/1397	chr10	TogoVar
ANKRD30A_chr10_37120598_37237567	37189512	G G	T T	missense_variant missense_variant	MODERATE	HG02886.hp1 HG02886.hp1	a0036 a0036	a0036c0038 a0036c0038	a0036c0038t0001 a0036c0038t0001	a0036c0038t0001g0228 a0036c0038t0001g0228	1	286	0.0035	c.246 others(4): Show c.2467G>T	p.Ala others(6): Show p.Ala823Ser	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	25/36	2657/4664	2467/4194	823/1397	chr10	TogoVar
ANKRD30A_chr10_37120598_37237567	37189515	A A	G G	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(89): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00621.hp2 HG00642.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01358.hp2 HG01361.hp2 HG01515.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp2 HG02004.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02572.hp1 HG02572.hp2 HG02630.hp2 HG02683.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18957.hp2 NA18959.hp2 NA18970.hp2 NA18990.hp2 NA19002.hp2 NA19009.hp2 NA19011.hp2 NA19030.hp1 NA19043.hp2 NA19057.hp2 NA19060.hp2 NA19065.hp1 NA19068.hp2 NA19079.hp2 NA19240.hp1 NA20129.hp1 NA20805.hp2	a0002 a0003 a0008 others(13): Show a0002 a0003 a0008 a0016 a0019 a0024 a0025 a0026 a0028 a0029 a0030 a0031 a0032 a0036 a0041 a0046	a0002c0002 a0002c0008 a0002c0047 others(15): Show a0002c0002 a0002c0008 a0002c0047 a0003c0003 a0008c0009 a0016c0018 a0019c0055 a0024c0048 a0025c0046 a0026c0043 a0028c0035 a0029c0034 a0030c0033 a0031c0036 a0032c0037 a0036c0038 a0041c0026 a0046c0056	a0002c0002t0001 a0002c0002t0004 a0002c0008t0001 others(16): Show a0002c0002t0001 a0002c0002t0004 a0002c0008t0001 a0002c0047t0001 a0003c0003t0001 a0008c0009t0001 a0016c0018t0001 a0019c0055t0007 a0024c0048t0001 a0025c0046t0001 a0026c0043t0001 a0028c0035t0001 a0029c0034t0004 a0030c0033t0001 a0031c0036t0001 a0032c0037t0001 a0036c0038t0001 a0041c0026t0001 a0046c0056t0001	a0002c0002t0001g0010 a0002c0002t0001g0021 a0002c0002t0001g0022 others(89): Show a0002c0002t0001g0010 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0029 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0041 a0002c0002t0001g0045 a0002c0002t0001g0047 a0002c0002t0001g0055 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0075 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0087 a0002c0002t0001g0212 a0002c0002t0001g0223 a0002c0002t0001g0229 a0002c0002t0001g0246 a0002c0002t0001g0260 a0002c0002t0001g0264 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0004g0070 a0002c0002t0004g0098 a0002c0002t0004g0106 a0002c0002t0004g0107 a0002c0002t0004g0108 a0002c0002t0004g0109 a0002c0008t0001g0111 a0002c0008t0001g0129 a0002c0008t0001g0130 a0002c0008t0001g0214 a0002c0008t0001g0215 a0002c0008t0001g0216 a0002c0008t0001g0217 a0002c0008t0001g0218 a0002c0008t0001g0226 a0002c0008t0001g0227 a0002c0047t0001g0067 a0003c0003t0001g0004 a0003c0003t0001g0008 a0003c0003t0001g0028 a0003c0003t0001g0035 a0003c0003t0001g0036 a0003c0003t0001g0037 a0003c0003t0001g0038 a0003c0003t0001g0039 a0003c0003t0001g0040 a0003c0003t0001g0043 a0003c0003t0001g0044 a0003c0003t0001g0046 a0003c0003t0001g0048 a0003c0003t0001g0060 a0003c0003t0001g0089 a0003c0003t0001g0169 a0003c0003t0001g0261 a0003c0003t0001g0262 a0008c0009t0001g0065 a0008c0009t0001g0091 a0008c0009t0001g0122 a0008c0009t0001g0138 a0008c0009t0001g0153 a0008c0009t0001g0155 a0008c0009t0001g0159 a0008c0009t0001g0175 a0008c0009t0001g0202 a0008c0009t0001g0211 a0016c0018t0001g0128 a0016c0018t0001g0171 a0019c0055t0007g0101 a0024c0048t0001g0016 a0025c0046t0001g0002 a0026c0043t0001g0133 a0028c0035t0001g0009 a0029c0034t0004g0110 a0030c0033t0001g0012 a0031c0036t0001g0051 a0032c0037t0001g0061 a0036c0038t0001g0228 a0041c0026t0001g0015 a0046c0056t0001g0131	92	286	0.3217	c.247 others(4): Show c.2470A>G	p.Thr others(6): Show p.Thr824Ala	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	25/36	2660/4664	2470/4194	824/1397	chr10	TogoVar
ANKRD30A_chr10_37120598_37237567	37193064	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02630.hp2 HG03209.hp2 HG02630.hp2 HG03209.hp2	a0016 a0016	a0016c0018 a0016c0018	a0016c0018t0001 a0016c0018t0001	a0016c0018t0001g0128 a0016c0018t0001g0171 a0016c0018t0001g0128 a0016c0018t0001g0171	2	286	0.0070	c.251 others(4): Show c.2513A>G	p.Glu others(6): Show p.Glu838Gly	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	26/36	2703/4664	2513/4194	838/1397	chr10	TogoVar
ANKRD30A_chr10_37120598_37237567	37193073	A A	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03209.hp2 HG02630.hp2 HG03209.hp2	a0016 a0016	a0016c0018 a0016c0018	a0016c0018t0001 a0016c0018t0001	a0016c0018t0001g0128 a0016c0018t0001g0171 a0016c0018t0001g0128 a0016c0018t0001g0171	2	286	0.0070	c.252 others(4): Show c.2522A>T	p.Asp others(6): Show p.Asp841Val	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	26/36	2712/4664	2522/4194	841/1397	chr10	TogoVar
ANKRD30A_chr10_37120598_37237567	37193077	T T	A A	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03209.hp2 HG02630.hp2 HG03209.hp2	a0016 a0016	a0016c0018 a0016c0018	a0016c0018t0001 a0016c0018t0001	a0016c0018t0001g0128 a0016c0018t0001g0171 a0016c0018t0001g0128 a0016c0018t0001g0171	2	286	0.0070	c.252 others(4): Show c.2526T>A	p.Asn others(6): Show p.Asn842Lys	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	26/36	2716/4664	2526/4194	842/1397	chr10	TogoVar
ANKRD30A_chr10_37120598_37237567	37193084	T T	C C	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03209.hp2 HG02630.hp2 HG03209.hp2	a0016 a0016	a0016c0018 a0016c0018	a0016c0018t0001 a0016c0018t0001	a0016c0018t0001g0128 a0016c0018t0001g0171 a0016c0018t0001g0128 a0016c0018t0001g0171	2	286	0.0070	c.253 others(4): Show c.2533T>C	p.Phe others(6): Show p.Phe845Leu	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	26/36	2723/4664	2533/4194	845/1397	chr10	TogoVar
ANKRD30A_chr10_37120598_37237567	37193186	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03098.hp1 HG03471.hp1 HG03098.hp1 HG03471.hp1	a0044 a0045 a0044 a0045	a0044c0024 a0045c0023 a0044c0024 a0045c0023	a0044c0024t0001 a0045c0023t0001 a0044c0024t0001 a0045c0023t0001	a0044c0024t0001g0006 a0045c0023t0001g0020 a0044c0024t0001g0006 a0045c0023t0001g0020	2	286	0.0070	c.254 others(4): Show c.2542G>T	p.Ala others(6): Show p.Ala848Ser	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	27/36	2732/4664	2542/4194	848/1397	chr10	TogoVar
ANKRD30A_chr10_37120598_37237567	37193189	C C	A A	missense_variant missense_variant	MODERATE	HG00423.hp2 HG02015.hp2 HG02040.hp2 others(9): Show HG00423.hp2 HG02015.hp2 HG02040.hp2 HG02135.hp2 HG02165.hp1 HG02523.hp2 HG02630.hp2 HG03209.hp2 NA18747.hp2 NA18941.hp2 NA19004.hp1 NA19081.hp1	a0007 a0016 a0007 a0016	a0007c0010 a0016c0018 a0007c0010 a0016c0018	a0007c0010t0001 a0007c0010t0008 a0016c0018t0001 a0007c0010t0001 a0007c0010t0008 a0016c0018t0001	a0007c0010t0001g0086 a0007c0010t0001g0093 a0007c0010t0001g0094 others(9): Show a0007c0010t0001g0086 a0007c0010t0001g0093 a0007c0010t0001g0094 a0007c0010t0001g0095 a0007c0010t0001g0096 a0007c0010t0001g0097 a0007c0010t0001g0104 a0007c0010t0001g0105 a0007c0010t0001g0127 a0007c0010t0008g0085 a0016c0018t0001g0128 a0016c0018t0001g0171	12	286	0.0420	c.254 others(4): Show c.2545C>A	p.Pro others(6): Show p.Pro849Thr	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	27/36	2735/4664	2545/4194	849/1397	chr10	TogoVar
ANKRD30A_chr10_37120598_37237567	37193190	C C	A A	missense_variant missense_variant	MODERATE	HG00423.hp2 HG02015.hp2 HG02040.hp2 others(9): Show HG00423.hp2 HG02015.hp2 HG02040.hp2 HG02135.hp2 HG02165.hp1 HG02523.hp2 HG02630.hp2 HG03209.hp2 NA18747.hp2 NA18941.hp2 NA19004.hp1 NA19081.hp1	a0007 a0016 a0007 a0016	a0007c0010 a0016c0018 a0007c0010 a0016c0018	a0007c0010t0001 a0007c0010t0008 a0016c0018t0001 a0007c0010t0001 a0007c0010t0008 a0016c0018t0001	a0007c0010t0001g0086 a0007c0010t0001g0093 a0007c0010t0001g0094 others(9): Show a0007c0010t0001g0086 a0007c0010t0001g0093 a0007c0010t0001g0094 a0007c0010t0001g0095 a0007c0010t0001g0096 a0007c0010t0001g0097 a0007c0010t0001g0104 a0007c0010t0001g0105 a0007c0010t0001g0127 a0007c0010t0008g0085 a0016c0018t0001g0128 a0016c0018t0001g0171	12	286	0.0420	c.254 others(4): Show c.2546C>A	p.Pro others(6): Show p.Pro849His	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	27/36	2736/4664	2546/4194	849/1397	chr10	TogoVar
ANKRD30A_chr10_37120598_37237567	37193195	A A	G G	missense_variant missense_variant	MODERATE	HG00423.hp2 HG02015.hp2 HG02040.hp2 others(9): Show HG00423.hp2 HG02015.hp2 HG02040.hp2 HG02135.hp2 HG02165.hp1 HG02523.hp2 HG02630.hp2 HG03209.hp2 NA18747.hp2 NA18941.hp2 NA19004.hp1 NA19081.hp1	a0007 a0016 a0007 a0016	a0007c0010 a0016c0018 a0007c0010 a0016c0018	a0007c0010t0001 a0007c0010t0008 a0016c0018t0001 a0007c0010t0001 a0007c0010t0008 a0016c0018t0001	a0007c0010t0001g0086 a0007c0010t0001g0093 a0007c0010t0001g0094 others(9): Show a0007c0010t0001g0086 a0007c0010t0001g0093 a0007c0010t0001g0094 a0007c0010t0001g0095 a0007c0010t0001g0096 a0007c0010t0001g0097 a0007c0010t0001g0104 a0007c0010t0001g0105 a0007c0010t0001g0127 a0007c0010t0008g0085 a0016c0018t0001g0128 a0016c0018t0001g0171	12	286	0.0420	c.255 others(4): Show c.2551A>G	p.Arg others(6): Show p.Arg851Gly	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	27/36	2741/4664	2551/4194	851/1397	chr10	TogoVar
ANKRD30A_chr10_37120598_37237567	37197290	A A	G G	missense_variant missense_variant	MODERATE	HG01891.hp2 HG01891.hp2	a0032 a0032	a0032c0037 a0032c0037	a0032c0037t0001 a0032c0037t0001	a0032c0037t0001g0061 a0032c0037t0001g0061	1	286	0.0035	c.262 others(4): Show c.2624A>G	p.Glu others(6): Show p.Glu875Gly	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	28/36	2814/4664	2624/4194	875/1397	chr10	TogoVar
ANKRD30A_chr10_37120598_37237567	37199761	G G	C C	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(153): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp2 HG00423.hp2 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00741.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01256.hp2 HG01257.hp2 HG01358.hp2 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp2 HG01981.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02056.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03688.hp1 HG03710.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18941.hp2 NA18944.hp2 NA18957.hp2 NA18959.hp2 NA18961.hp2 NA18965.hp1 NA18970.hp2 NA18971.hp1 NA18977.hp2 NA18980.hp2 NA18981.hp1 NA18988.hp2 NA18990.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp2 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19057.hp2 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19068.hp2 NA19074.hp2 NA19079.hp2 NA19081.hp1 NA19083.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp2	a0002 a0003 a0004 others(26): Show a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0013 a0014 a0016 a0017 a0018 a0020 a0021 a0024 a0027 a0028 a0029 a0030 a0031 a0032 a0035 a0036 a0041 a0044 a0045 a0046	a0002c0002 a0002c0008 a0002c0047 others(30): Show a0002c0002 a0002c0008 a0002c0047 a0003c0003 a0004c0004 a0004c0054 a0005c0005 a0005c0022 a0006c0007 a0007c0010 a0009c0011 a0010c0040 a0011c0013 a0013c0021 a0014c0015 a0016c0018 a0017c0016 a0018c0057 a0020c0053 a0021c0052 a0024c0048 a0027c0039 a0028c0035 a0029c0034 a0030c0033 a0031c0036 a0032c0037 a0035c0028 a0036c0038 a0041c0026 a0044c0024 a0045c0023 a0046c0056	a0002c0002t0001 a0002c0002t0004 a0002c0008t0001 others(34): Show a0002c0002t0001 a0002c0002t0004 a0002c0008t0001 a0002c0047t0001 a0003c0003t0001 a0004c0004t0002 a0004c0054t0002 a0005c0005t0001 a0005c0005t0003 a0005c0005t0006 a0005c0022t0001 a0006c0007t0001 a0007c0010t0001 a0007c0010t0008 a0009c0011t0001 a0010c0040t0001 a0011c0013t0001 a0013c0021t0001 a0014c0015t0001 a0016c0018t0001 a0017c0016t0003 a0018c0057t0001 a0020c0053t0002 a0021c0052t0001 a0024c0048t0001 a0027c0039t0001 a0028c0035t0001 a0029c0034t0004 a0030c0033t0001 a0031c0036t0001 a0032c0037t0001 a0035c0028t0003 a0036c0038t0001 a0041c0026t0001 a0044c0024t0001 a0045c0023t0001 a0046c0056t0001	a0002c0002t0001g0010 a0002c0002t0001g0021 a0002c0002t0001g0022 others(153): Show a0002c0002t0001g0010 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0029 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0041 a0002c0002t0001g0045 a0002c0002t0001g0047 a0002c0002t0001g0055 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0075 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0087 a0002c0002t0001g0212 a0002c0002t0001g0223 a0002c0002t0001g0229 a0002c0002t0001g0246 a0002c0002t0001g0260 a0002c0002t0001g0264 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0004g0070 a0002c0002t0004g0098 a0002c0002t0004g0106 a0002c0002t0004g0107 a0002c0002t0004g0108 a0002c0002t0004g0109 a0002c0008t0001g0111 a0002c0008t0001g0129 a0002c0008t0001g0130 a0002c0008t0001g0214 a0002c0008t0001g0215 a0002c0008t0001g0216 a0002c0008t0001g0217 a0002c0008t0001g0218 a0002c0008t0001g0226 a0002c0008t0001g0227 a0002c0047t0001g0067 a0003c0003t0001g0004 a0003c0003t0001g0008 a0003c0003t0001g0028 a0003c0003t0001g0035 a0003c0003t0001g0036 a0003c0003t0001g0037 a0003c0003t0001g0038 a0003c0003t0001g0039 a0003c0003t0001g0040 a0003c0003t0001g0043 a0003c0003t0001g0044 a0003c0003t0001g0046 a0003c0003t0001g0048 a0003c0003t0001g0060 a0003c0003t0001g0089 a0003c0003t0001g0169 a0003c0003t0001g0261 a0003c0003t0001g0262 a0004c0004t0002g0269 a0004c0004t0002g0270 a0004c0004t0002g0271 a0004c0004t0002g0272 a0004c0004t0002g0273 a0004c0004t0002g0274 a0004c0004t0002g0275 a0004c0004t0002g0277 a0004c0004t0002g0278 a0004c0004t0002g0279 a0004c0004t0002g0280 a0004c0004t0002g0283 a0004c0004t0002g0284 a0004c0004t0002g0285 a0004c0054t0002g0268 a0005c0005t0001g0265 a0005c0005t0003g0234 a0005c0005t0003g0235 a0005c0005t0003g0236 a0005c0005t0003g0237 a0005c0005t0003g0238 a0005c0005t0003g0239 a0005c0005t0003g0240 a0005c0005t0003g0241 a0005c0005t0003g0242 a0005c0005t0003g0243 a0005c0005t0006g0244 a0005c0022t0001g0225 a0006c0007t0001g0011 a0006c0007t0001g0013 a0006c0007t0001g0014 a0006c0007t0001g0017 a0006c0007t0001g0018 a0006c0007t0001g0024 a0006c0007t0001g0049 a0006c0007t0001g0050 a0006c0007t0001g0258 a0006c0007t0001g0259 a0006c0007t0001g0263 a0007c0010t0001g0086 a0007c0010t0001g0093 a0007c0010t0001g0094 a0007c0010t0001g0095 a0007c0010t0001g0096 a0007c0010t0001g0097 a0007c0010t0001g0104 a0007c0010t0001g0105 a0007c0010t0001g0127 a0007c0010t0008g0085 a0009c0011t0001g0247 a0009c0011t0001g0248 a0009c0011t0001g0249 a0009c0011t0001g0251 a0009c0011t0001g0252 a0009c0011t0001g0253 a0009c0011t0001g0254 a0009c0011t0001g0255 a0009c0011t0001g0256 a0010c0040t0001g0042 a0011c0013t0001g0025 a0011c0013t0001g0056 a0011c0013t0001g0071 a0011c0013t0001g0074 a0011c0013t0001g0088 a0013c0021t0001g0007 a0013c0021t0001g0224 a0014c0015t0001g0276 a0014c0015t0001g0282 a0016c0018t0001g0128 a0016c0018t0001g0171 a0017c0016t0003g0232 a0017c0016t0003g0233 a0018c0057t0001g0168 a0020c0053t0002g0281 a0021c0052t0001g0132 a0024c0048t0001g0016 a0027c0039t0001g0170 a0028c0035t0001g0009 a0029c0034t0004g0110 a0030c0033t0001g0012 a0031c0036t0001g0051 a0032c0037t0001g0061 a0035c0028t0003g0245 a0036c0038t0001g0228 a0041c0026t0001g0015 a0044c0024t0001g0006 a0045c0023t0001g0020 a0046c0056t0001g0131	156	286	0.5455	c.275 others(4): Show c.2751G>C	p.Lys others(6): Show p.Lys917Asn	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	30/36	2941/4664	2751/4194	917/1397	chr10	TogoVar
ANKRD30A_chr10_37120598_37237567	37201242	G G	A A	missense_variant missense_variant	MODERATE	HG02615.hp2 HG02615.hp2	a0035 a0035	a0035c0028 a0035c0028	a0035c0028t0003 a0035c0028t0003	a0035c0028t0003g0245 a0035c0028t0003g0245	1	286	0.0035	c.278 others(4): Show c.2786G>A	p.Arg others(6): Show p.Arg929His	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	31/36	2976/4664	2786/4194	929/1397	chr10	TogoVar
ANKRD30A_chr10_37120598_37237567	37201278	A A	T T	missense_variant missense_variant	MODERATE	NA19043.hp2 NA19043.hp2	a0031 a0031	a0031c0036 a0031c0036	a0031c0036t0001 a0031c0036t0001	a0031c0036t0001g0051 a0031c0036t0001g0051	1	286	0.0035	c.282 others(4): Show c.2822A>T	p.Lys others(6): Show p.Lys941Met	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	31/36	3012/4664	2822/4194	941/1397	chr10	TogoVar
ANKRD30A_chr10_37120598_37237567	37216213	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00642.hp2 HG01109.hp2 others(28): Show HG00099.hp2 HG00642.hp2 HG01109.hp2 HG01168.hp1 HG01175.hp2 HG01256.hp2 HG01361.hp2 HG01515.hp1 HG01928.hp2 HG01943.hp2 HG02004.hp2 HG02129.hp2 HG02132.hp2 HG02148.hp2 HG02293.hp2 HG03017.hp2 HG03041.hp2 NA18940.hp2 NA18957.hp2 NA18959.hp2 NA18980.hp2 NA19002.hp2 NA19009.hp2 NA19060.hp2 NA19063.hp2 NA19065.hp1 NA19068.hp2 NA19074.hp2 NA19079.hp2 NA20752.hp2 NA20805.hp2	a0003 a0006 a0010 others(1): Show a0003 a0006 a0010 a0024	a0003c0003 a0006c0007 a0010c0040 others(1): Show a0003c0003 a0006c0007 a0010c0040 a0024c0048	a0003c0003t0001 a0006c0007t0001 a0010c0040t0001 others(1): Show a0003c0003t0001 a0006c0007t0001 a0010c0040t0001 a0024c0048t0001	a0003c0003t0001g0004 a0003c0003t0001g0008 a0003c0003t0001g0028 others(28): Show a0003c0003t0001g0004 a0003c0003t0001g0008 a0003c0003t0001g0028 a0003c0003t0001g0035 a0003c0003t0001g0036 a0003c0003t0001g0037 a0003c0003t0001g0038 a0003c0003t0001g0039 a0003c0003t0001g0040 a0003c0003t0001g0043 a0003c0003t0001g0044 a0003c0003t0001g0046 a0003c0003t0001g0048 a0003c0003t0001g0060 a0003c0003t0001g0089 a0003c0003t0001g0169 a0003c0003t0001g0261 a0003c0003t0001g0262 a0006c0007t0001g0011 a0006c0007t0001g0013 a0006c0007t0001g0014 a0006c0007t0001g0017 a0006c0007t0001g0018 a0006c0007t0001g0024 a0006c0007t0001g0049 a0006c0007t0001g0050 a0006c0007t0001g0258 a0006c0007t0001g0259 a0006c0007t0001g0263 a0010c0040t0001g0042 a0024c0048t0001g0016	31	286	0.1084	c.290 others(4): Show c.2902G>A	p.Val others(6): Show p.Val968Ile	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	32/36	3092/4664	2902/4194	968/1397	chr10	TogoVar
ANKRD30A_chr10_37120598_37237567	37216231	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00323.hp2 HG00621.hp2 others(77): Show HG00099.hp1 HG00323.hp2 HG00621.hp2 HG00642.hp1 HG01081.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp2 HG01192.hp2 HG01243.hp2 HG01358.hp2 HG01515.hp2 HG01884.hp1 HG01891.hp2 HG01981.hp1 HG02056.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02683.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03688.hp1 HG03710.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp2 NA18961.hp2 NA18970.hp2 NA18971.hp1 NA18977.hp2 NA18981.hp1 NA18988.hp2 NA18990.hp2 NA19004.hp2 NA19006.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19057.hp2 NA19063.hp1 NA19083.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp1	a0002 a0004 a0011 others(11): Show a0002 a0004 a0011 a0018 a0020 a0021 a0028 a0029 a0030 a0032 a0034 a0036 a0041 a0046	a0002c0002 a0002c0008 a0002c0047 others(13): Show a0002c0002 a0002c0008 a0002c0047 a0004c0004 a0011c0013 a0018c0057 a0020c0053 a0021c0052 a0028c0035 a0029c0034 a0030c0033 a0032c0037 a0034c0029 a0036c0038 a0041c0026 a0046c0056	a0002c0002t0001 a0002c0002t0004 a0002c0008t0001 others(14): Show a0002c0002t0001 a0002c0002t0004 a0002c0008t0001 a0002c0047t0001 a0004c0004t0002 a0011c0013t0001 a0018c0057t0001 a0020c0053t0002 a0021c0052t0001 a0028c0035t0001 a0029c0034t0004 a0030c0033t0001 a0032c0037t0001 a0034c0029t0001 a0036c0038t0001 a0041c0026t0001 a0046c0056t0001	a0002c0002t0001g0010 a0002c0002t0001g0021 a0002c0002t0001g0022 others(77): Show a0002c0002t0001g0010 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0029 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0041 a0002c0002t0001g0045 a0002c0002t0001g0047 a0002c0002t0001g0055 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0075 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0087 a0002c0002t0001g0212 a0002c0002t0001g0223 a0002c0002t0001g0229 a0002c0002t0001g0246 a0002c0002t0001g0260 a0002c0002t0001g0264 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0004g0070 a0002c0002t0004g0098 a0002c0002t0004g0106 a0002c0002t0004g0107 a0002c0002t0004g0108 a0002c0002t0004g0109 a0002c0008t0001g0111 a0002c0008t0001g0129 a0002c0008t0001g0130 a0002c0008t0001g0214 a0002c0008t0001g0215 a0002c0008t0001g0216 a0002c0008t0001g0217 a0002c0008t0001g0218 a0002c0008t0001g0226 a0002c0008t0001g0227 a0002c0047t0001g0067 a0004c0004t0002g0269 a0004c0004t0002g0270 a0004c0004t0002g0271 a0004c0004t0002g0272 a0004c0004t0002g0273 a0004c0004t0002g0274 a0004c0004t0002g0275 a0004c0004t0002g0277 a0004c0004t0002g0278 a0004c0004t0002g0279 a0004c0004t0002g0280 a0004c0004t0002g0283 a0004c0004t0002g0284 a0004c0004t0002g0285 a0011c0013t0001g0025 a0011c0013t0001g0056 a0011c0013t0001g0071 a0011c0013t0001g0074 a0011c0013t0001g0088 a0018c0057t0001g0168 a0020c0053t0002g0281 a0021c0052t0001g0132 a0028c0035t0001g0009 a0029c0034t0004g0110 a0030c0033t0001g0012 a0032c0037t0001g0061 a0034c0029t0001g0090 a0036c0038t0001g0228 a0041c0026t0001g0015 a0046c0056t0001g0131	80	286	0.2797	c.292 others(4): Show c.2920G>A	p.Ala others(6): Show p.Ala974Thr	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	32/36	3110/4664	2920/4194	974/1397	chr10	TogoVar
ANKRD30A_chr10_37120598_37237567	37216264	C C	T T	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00642.hp2 HG01109.hp2 others(29): Show HG00099.hp2 HG00642.hp2 HG01109.hp2 HG01168.hp1 HG01175.hp2 HG01256.hp2 HG01361.hp2 HG01515.hp1 HG01928.hp2 HG01943.hp2 HG02004.hp2 HG02129.hp2 HG02132.hp2 HG02148.hp2 HG02293.hp2 HG03017.hp2 HG03041.hp2 HG03471.hp1 NA18940.hp2 NA18957.hp2 NA18959.hp2 NA18980.hp2 NA19002.hp2 NA19009.hp2 NA19060.hp2 NA19063.hp2 NA19065.hp1 NA19068.hp2 NA19074.hp2 NA19079.hp2 NA20752.hp2 NA20805.hp2	a0003 a0006 a0010 others(2): Show a0003 a0006 a0010 a0024 a0045	a0003c0003 a0006c0007 a0010c0040 others(2): Show a0003c0003 a0006c0007 a0010c0040 a0024c0048 a0045c0023	a0003c0003t0001 a0006c0007t0001 a0010c0040t0001 others(2): Show a0003c0003t0001 a0006c0007t0001 a0010c0040t0001 a0024c0048t0001 a0045c0023t0001	a0003c0003t0001g0004 a0003c0003t0001g0008 a0003c0003t0001g0028 others(29): Show a0003c0003t0001g0004 a0003c0003t0001g0008 a0003c0003t0001g0028 a0003c0003t0001g0035 a0003c0003t0001g0036 a0003c0003t0001g0037 a0003c0003t0001g0038 a0003c0003t0001g0039 a0003c0003t0001g0040 a0003c0003t0001g0043 a0003c0003t0001g0044 a0003c0003t0001g0046 a0003c0003t0001g0048 a0003c0003t0001g0060 a0003c0003t0001g0089 a0003c0003t0001g0169 a0003c0003t0001g0261 a0003c0003t0001g0262 a0006c0007t0001g0011 a0006c0007t0001g0013 a0006c0007t0001g0014 a0006c0007t0001g0017 a0006c0007t0001g0018 a0006c0007t0001g0024 a0006c0007t0001g0049 a0006c0007t0001g0050 a0006c0007t0001g0258 a0006c0007t0001g0259 a0006c0007t0001g0263 a0010c0040t0001g0042 a0024c0048t0001g0016 a0045c0023t0001g0020	32	286	0.1119	c.295 others(4): Show c.2953C>T	p.Arg others(6): Show p.Arg985Cys	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	32/36	3143/4664	2953/4194	985/1397	chr10	TogoVar
ANKRD30A_chr10_37120598_37237567	37216314	G G	C C	missense_variant missense_variant	MODERATE	NA19030.hp1 NA19030.hp1	a0030 a0030	a0030c0033 a0030c0033	a0030c0033t0001 a0030c0033t0001	a0030c0033t0001g0012 a0030c0033t0001g0012	1	286	0.0035	c.300 others(4): Show c.3003G>C	p.Lys others(7): Show p.Lys1001Asn	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	32/36	3193/4664	3003/4194	1001/1397	chr10	TogoVar
ANKRD30A_chr10_37120598_37237567	37219029	T T	C C	missense_variant missense_variant	MODERATE	HG03225.hp2 HG03225.hp2	a0029 a0029	a0029c0034 a0029c0034	a0029c0034t0004 a0029c0034t0004	a0029c0034t0004g0110 a0029c0034t0004g0110	1	286	0.0035	c.331 others(4): Show c.3317T>C	p.Met others(7): Show p.Met1106Thr	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	34/36	3507/4664	3317/4194	1106/1397	chr10	TogoVar
ANKRD30A_chr10_37120598_37237567	37219424	G G	A A	missense_variant missense_variant	MODERATE	HG02109.hp2 HG02109.hp2	a0027 a0027	a0027c0039 a0027c0039	a0027c0039t0001 a0027c0039t0001	a0027c0039t0001g0170 a0027c0039t0001g0170	1	286	0.0035	c.371 others(4): Show c.3712G>A	p.Asp others(7): Show p.Asp1238Asn	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	34/36	3902/4664	3712/4194	1238/1397	chr10	TogoVar
ANKRD30A_chr10_37120598_37237567	37219466	C C	T T	missense_variant missense_variant	MODERATE	HG02451.hp1 HG02451.hp1	a0028 a0028	a0028c0035 a0028c0035	a0028c0035t0001 a0028c0035t0001	a0028c0035t0001g0009 a0028c0035t0001g0009	1	286	0.0035	c.375 others(4): Show c.3754C>T	p.Pro others(7): Show p.Pro1252Ser	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	34/36	3944/4664	3754/4194	1252/1397	chr10	TogoVar
ANKRD30A_chr10_37120598_37237567	37219473	C C	T T	missense_variant missense_variant	MODERATE	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0017 a0017	a0017c0016 a0017c0016	a0017c0016t0003 a0017c0016t0003	a0017c0016t0003g0232 a0017c0016t0003g0233 a0017c0016t0003g0232 a0017c0016t0003g0233	2	286	0.0070	c.376 others(4): Show c.3761C>T	p.Ser others(7): Show p.Ser1254Phe	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	34/36	3951/4664	3761/4194	1254/1397	chr10	TogoVar
ANKRD30A_chr10_37120598_37237567	37219674	A A	G G	missense_variant missense_variant	MODERATE	HG03492.hp1 HG03492.hp1	a0033 a0033	a0033c0031 a0033c0031	a0033c0031t0001 a0033c0031t0001	a0033c0031t0001g0203 a0033c0031t0001g0203	1	286	0.0035	c.396 others(4): Show c.3962A>G	p.Gln others(7): Show p.Gln1321Arg	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	34/36	4152/4664	3962/4194	1321/1397	chr10	TogoVar
ANKRD30BL_chr2_132142591_132166952	132150975	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02486.hp2 HG03195.hp1 HG02486.hp2 HG03195.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0047 a0003c0006t0001g0047	2	406	0.0049	c.616 others(3): Show c.616G>A	p.Val others(6): Show p.Val206Ile	ANKRD30BL	ENSG00000163046.16	transcript	ENST00000409867.6	protein_coding	5/6	863/1564	616/777	206/258	chr2	TogoVar
ANKRD30BL_chr2_132142591_132166952	132154765	C C	A A	missense_variant missense_variant	MODERATE	NA18956.hp1 NA18956.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0002 a0006c0011t0002	a0006c0011t0002g0151 a0006c0011t0002g0151	1	406	0.0025	c.511 others(3): Show c.511G>T	p.Gly others(6): Show p.Gly171Cys	ANKRD30BL	ENSG00000163046.16	transcript	ENST00000409867.6	protein_coding	4/6	758/1564	511/777	171/258	chr2	TogoVar
ANKRD30BL_chr2_132142591_132166952	132154767	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18956.hp1 NA18956.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0002 a0006c0011t0002	a0006c0011t0002g0151 a0006c0011t0002g0151	1	406	0.0025	c.509 others(3): Show c.509C>T	p.Ala others(6): Show p.Ala170Val	ANKRD30BL	ENSG00000163046.16	transcript	ENST00000409867.6	protein_coding	4/6	756/1564	509/777	170/258	chr2	TogoVar
ANKRD30BL_chr2_132142591_132166952	132157020	C C	T T	missense_variant missense_variant	MODERATE	NA19084.hp1 NA19084.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0004 a0005c0010t0004	a0005c0010t0004g0063 a0005c0010t0004g0063	1	406	0.0025	c.460 others(3): Show c.460G>A	p.Val others(6): Show p.Val154Met	ANKRD30BL	ENSG00000163046.16	transcript	ENST00000409867.6	protein_coding	3/6	707/1564	460/777	154/258	chr2	TogoVar
ANKRD30BL_chr2_132142591_132166952	132157316	A A	G G	missense_variant missense_variant	MODERATE	HG02970.hp1 HG02976.hp1 HG02970.hp1 HG02976.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0014 a0004c0004t0001 a0004c0004t0014	a0004c0004t0001g0090 a0004c0004t0014g0091 a0004c0004t0001g0090 a0004c0004t0014g0091	2	406	0.0049	c.326 others(3): Show c.326T>C	p.Leu others(6): Show p.Leu109Pro	ANKRD30BL	ENSG00000163046.16	transcript	ENST00000409867.6	protein_coding	2/6	573/1564	326/777	109/258	chr2	TogoVar
ANKRD30BL_chr2_132142591_132166952	132157332	C C	T T	missense_variant missense_variant	MODERATE	HG02040.hp2 NA18986.hp1 NA18991.hp1 HG02040.hp2 NA18986.hp1 NA18991.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0032 a0002c0003t0004g0062 a0002c0003t0004g0032 a0002c0003t0004g0062	3	406	0.0074	c.310 others(3): Show c.310G>A	p.Glu others(6): Show p.Glu104Lys	ANKRD30BL	ENSG00000163046.16	transcript	ENST00000409867.6	protein_coding	2/6	557/1564	310/777	104/258	chr2	TogoVar

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