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	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
ANKRD13D_chr11_67284303_67307484	67301145	T T	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02132.hp2 HG02132.hp2	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0001 a0005c0016t0001	a0005c0016t0001g0136 a0005c0016t0001g0136	1	334	0.0030	0	c.122 others(4): Show c.1229T>A	p.Ile others(6): Show p.Ile410Asn	ANKRD13D	ENSG00000172932.16	transcript	ENST00000511455.7	protein_coding	11/15	1387/2128	1229/1818	410/605		chr11	TogoVar
ANKRD13D_chr11_67284303_67307484	67301151	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02132.hp2 HG02132.hp2	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0001 a0005c0016t0001	a0005c0016t0001g0136 a0005c0016t0001g0136	1	334	0.0030	0	c.123 others(6): Show c.1231+4A>G		ANKRD13D	ENSG00000172932.16	transcript	ENST00000511455.7	protein_coding	11/14					chr11	TogoVar
ANKRD13D_chr11_67284303_67307484	67301153	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02132.hp2 HG02132.hp2	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0001 a0005c0016t0001	a0005c0016t0001g0136 a0005c0016t0001g0136	1	334	0.0030	0	c.123 others(6): Show c.1231+6A>G		ANKRD13D	ENSG00000172932.16	transcript	ENST00000511455.7	protein_coding	11/14					chr11	TogoVar
ANKRD16_chr10_5856616_5894893	5862698	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp1 HG00423.hp2 HG00609.hp2 others(58): Show HG00408.hp1 HG00423.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00733.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01106.hp2 HG01169.hp2 HG01192.hp1 HG01261.hp1 HG01261.hp2 HG01433.hp2 HG02040.hp2 HG02083.hp2 HG02135.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02738.hp1 HG03017.hp2 HG03239.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03688.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG06807.hp2 NA18612.hp1 NA18946.hp2 NA18949.hp2 NA18952.hp1 NA18957.hp1 NA18962.hp2 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18974.hp2 NA18980.hp1 NA18982.hp2 NA18984.hp1 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA19001.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19054.hp1 NA19063.hp1 NA19068.hp1 NA19080.hp2 NA19083.hp1 NA19087.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0010 a0002c0002 others(3): Show a0001c0001 a0001c0010 a0002c0002 a0002c0003 a0002c0013 a0003c0004	a0001c0001t0001 a0001c0001t0007 a0001c0010t0001 others(8): Show a0001c0001t0001 a0001c0001t0007 a0001c0010t0001 a0002c0002t0001 a0002c0002t0007 a0002c0002t0014 a0002c0003t0001 a0002c0003t0003 a0002c0003t0020 a0002c0013t0001 a0003c0004t0001	a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0252 others(50): Show a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0252 a0001c0001t0001g0260 a0001c0001t0001g0265 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0286 a0001c0001t0001g0310 a0001c0001t0007g0216 a0001c0010t0001g0225 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0089 a0002c0002t0001g0327 a0002c0002t0001g0328 a0002c0002t0001g0330 a0002c0002t0001g0331 a0002c0002t0001g0332 a0002c0002t0001g0333 a0002c0002t0001g0334 a0002c0002t0001g0335 a0002c0002t0001g0336 a0002c0002t0001g0338 a0002c0002t0001g0339 a0002c0002t0001g0341 a0002c0002t0007g0011 a0002c0002t0007g0012 a0002c0002t0007g0071 a0002c0002t0007g0092 a0002c0002t0014g0013 a0002c0002t0014g0091 a0002c0003t0001g0003 a0002c0003t0001g0010 a0002c0003t0001g0073 a0002c0003t0001g0074 a0002c0003t0001g0075 a0002c0003t0001g0076 a0002c0003t0001g0078 a0002c0003t0001g0079 a0002c0003t0001g0081 a0002c0003t0001g0083 a0002c0003t0001g0084 a0002c0003t0001g0085 a0002c0003t0001g0086 a0002c0003t0001g0087 a0002c0003t0001g0093 a0002c0003t0001g0235 a0002c0003t0003g0080 a0002c0003t0020g0348 a0002c0003t0020g0349 a0002c0013t0001g0088 a0003c0004t0001g0038	61	392	0.1556	0	c.34 others(5): Show c.34-7T>C		ANKRD16	ENSG00000134461.16	transcript	ENST00000380094.10	protein_coding	7/7					chr10	TogoVar
ANKRD16_chr10_5856616_5894893	5883966	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03130.hp1 HG03130.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0006 a0004c0005t0006	a0004c0005t0006g0258 a0004c0005t0006g0258	1	392	0.0026	0	c.687 others(5): Show c.687+3A>G		ANKRD16	ENSG00000134461.16	transcript	ENST00000380094.10	protein_coding	4/7					chr10	TogoVar
ANKRD16_chr10_5856616_5894893	5889036	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	392	0.0026	0	c.314 others(5): Show c.314+5G>A		ANKRD16	ENSG00000134461.16	transcript	ENST00000380094.10	protein_coding	1/7					chr10	TogoVar
ANKRD17_chr4_73068376_73263798	73124906	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0075 a0001c0002t0002g0075	1	292	0.0034	0	c.349 others(6): Show c.3492+7T>C		ANKRD17	ENSG00000132466.20	transcript	ENST00000358602.9	protein_coding	18/33					chr4	TogoVar
ANKRD17_chr4_73068376_73263798	73144838	TA TA	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01256.hp2 HG01515.hp1 HG02895.hp1 others(4): Show HG01256.hp2 HG01515.hp1 HG02895.hp1 HG02895.hp2 NA19002.hp2 NA19056.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0001 a0001c0003t0003 a0001c0007t0001 a0001c0001t0001 a0001c0003t0003 a0001c0007t0001	a0001c0001t0001g0026 a0001c0001t0001g0065 a0001c0001t0001g0191 others(4): Show a0001c0001t0001g0026 a0001c0001t0001g0065 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0216 a0001c0003t0003g0254 a0001c0007t0001g0023	7	292	0.0240	-1	c.187 others(7): Show c.1870-7delT		ANKRD17	ENSG00000132466.20	transcript	ENST00000358602.9	protein_coding	10/33					chr4	TogoVar
ANKRD17_chr4_73068376_73263798	73156171	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0292 a0001c0002t0002g0292	1	292	0.0034	0	c.705 others(5): Show c.705-5A>C		ANKRD17	ENSG00000132466.20	transcript	ENST00000358602.9	protein_coding	3/33					chr4	TogoVar
ANKRD18A_chr9_38566364_38625596	38572059	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19057.hp2 NA19057.hp2	a0031 a0031	a0031c0033 a0031c0033	a0031c0033t0001 a0031c0033t0001	a0031c0033t0001g0174 a0031c0033t0001g0174	1	402	0.0025	0	c.296 others(4): Show c.2965G>T	p.Val others(6): Show p.Val989Phe	ANKRD18A	ENSG00000180071.21	transcript	ENST00000399703.6	protein_coding	16/16	3276/3971	2965/2979	989/992		chr9	TogoVar
ANKRD18A_chr9_38566364_38625596	38578156	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp1 HG01243.hp2 HG02451.hp1 others(18): Show HG01109.hp1 HG01243.hp2 HG02451.hp1 HG02451.hp2 HG02622.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02922.hp2 HG02976.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp2 HG03453.hp2 HG03516.hp1 HG03834.hp2 NA18522.hp1 NA19030.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0021 a0022	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0006c0006 a0021c0018 a0022c0021	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 others(9): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0002c0002t0003 a0002c0002t0006 a0002c0002t0007 a0003c0003t0021 a0006c0006t0006 a0006c0006t0024 a0021c0018t0003 a0021c0018t0006 a0022c0021t0006	a0001c0001t0002g0162 a0001c0001t0002g0234 a0001c0001t0002g0260 others(17): Show a0001c0001t0002g0162 a0001c0001t0002g0234 a0001c0001t0002g0260 a0001c0001t0006g0322 a0001c0001t0006g0353 a0001c0001t0008g0248 a0002c0002t0003g0286 a0002c0002t0003g0288 a0002c0002t0003g0298 a0002c0002t0003g0300 a0002c0002t0006g0269 a0002c0002t0006g0287 a0002c0002t0006g0290 a0002c0002t0007g0116 a0003c0003t0021g0313 a0006c0006t0006g0319 a0006c0006t0024g0366 a0021c0018t0003g0324 a0021c0018t0006g0304 a0022c0021t0006g0026	21	402	0.0522	0	c.224 others(6): Show c.2248-8T>C		ANKRD18A	ENSG00000180071.21	transcript	ENST00000399703.6	protein_coding	12/15					chr9	TogoVar
ANKRD18A_chr9_38566364_38625596	38620072	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03041.hp1 HG03098.hp2 HG06807.hp1 HG03041.hp1 HG03098.hp2 HG06807.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0014 a0003c0003t0022 a0003c0003t0014 a0003c0003t0022	a0003c0003t0014g0358 a0003c0003t0014g0360 a0003c0003t0022g0359 a0003c0003t0014g0358 a0003c0003t0014g0360 a0003c0003t0022g0359	3	402	0.0075	0	c.206 others(5): Show c.206+8G>C		ANKRD18A	ENSG00000180071.21	transcript	ENST00000399703.6	protein_coding	1/15					chr9	TogoVar
ANKRD18B_chr9_33519251_33578013	33524699	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01255.hp2 HG02451.hp2 HG02572.hp2 others(1): Show HG01255.hp2 HG02451.hp2 HG02572.hp2 HG03225.hp2	a0003 a0003	a0003c0003 a0003c0015 a0003c0003 a0003c0015	a0003c0003t0002 a0003c0015t0002 a0003c0003t0002 a0003c0015t0002	a0003c0003t0002g0035 a0003c0003t0002g0036 a0003c0003t0002g0037 others(1): Show a0003c0003t0002g0035 a0003c0003t0002g0036 a0003c0003t0002g0037 a0003c0015t0002g0038	4	374	0.0107	0	c.206 others(5): Show c.206+4G>A		ANKRD18B	ENSG00000230453.11	transcript	ENST00000684830.1	protein_coding	1/18					chr9	TogoVar
ANKRD18B_chr9_33519251_33578013	33524700	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01255.hp2 HG02451.hp2 HG02572.hp2 others(1): Show HG01255.hp2 HG02451.hp2 HG02572.hp2 HG03225.hp2	a0003 a0003	a0003c0003 a0003c0015 a0003c0003 a0003c0015	a0003c0003t0002 a0003c0015t0002 a0003c0003t0002 a0003c0015t0002	a0003c0003t0002g0035 a0003c0003t0002g0036 a0003c0003t0002g0037 others(1): Show a0003c0003t0002g0035 a0003c0003t0002g0036 a0003c0003t0002g0037 a0003c0015t0002g0038	4	374	0.0107	0	c.206 others(5): Show c.206+5C>A		ANKRD18B	ENSG00000230453.11	transcript	ENST00000684830.1	protein_coding	1/18					chr9	TogoVar
ANKRD18B_chr9_33519251_33578013	33555703	TC TC	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00423.hp1 HG00544.hp2 HG00673.hp2 others(46): Show HG00423.hp1 HG00544.hp2 HG00673.hp2 HG01361.hp1 HG01516.hp2 HG01928.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp2 HG02300.hp1 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG03669.hp2 HG04204.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18947.hp1 NA18949.hp1 NA18954.hp2 NA18956.hp2 NA18959.hp1 NA18960.hp2 NA18962.hp2 NA18965.hp1 NA18967.hp2 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18989.hp1 NA18990.hp1 NA19000.hp2 NA19002.hp2 NA19012.hp1 NA19057.hp2 NA19076.hp2 NA19077.hp2 NA19081.hp2 NA19086.hp1 NA19090.hp2 NA19091.hp2	a0001 a0003 a0011 others(1): Show a0001 a0003 a0011 a0016	a0001c0001 a0003c0003 a0011c0021 others(1): Show a0001c0001 a0003c0003 a0011c0021 a0016c0041	a0001c0001t0001 a0001c0001t0004 a0003c0003t0002 others(2): Show a0001c0001t0001 a0001c0001t0004 a0003c0003t0002 a0011c0021t0001 a0016c0041t0001	a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0022 others(39): Show a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0039 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0149 a0001c0001t0001g0167 a0001c0001t0001g0187 a0001c0001t0001g0191 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0230 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0004g0286 a0001c0001t0004g0297 a0001c0001t0004g0310 a0001c0001t0004g0321 a0003c0003t0002g0013 a0003c0003t0002g0054 a0003c0003t0002g0071 a0003c0003t0002g0075 a0003c0003t0002g0078 a0003c0003t0002g0080 a0003c0003t0002g0081 a0003c0003t0002g0090 a0011c0021t0001g0239 a0011c0021t0001g0240 a0016c0041t0001g0132	49	374	0.1310	-1	c.221 others(7): Show c.2218-4delC		ANKRD18B	ENSG00000230453.11	transcript	ENST00000684830.1	protein_coding	12/18					chr9	TogoVar
ANKRD1_chr10_90907096_90926087	90918970	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01070.hp1 HG01123.hp1 HG01928.hp2 others(7): Show HG01070.hp1 HG01123.hp1 HG01928.hp2 HG02148.hp1 HG02273.hp1 NA18942.hp2 NA19005.hp1 NA19057.hp2 NA19081.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0008 a0001c0002t0011 a0001c0002t0001 a0001c0002t0008 a0001c0002t0011	a0001c0002t0001g0013 a0001c0002t0001g0138 a0001c0002t0008g0131 others(2): Show a0001c0002t0001g0013 a0001c0002t0001g0138 a0001c0002t0008g0131 a0001c0002t0008g0137 a0001c0002t0011g0179	10	468	0.0214	0	c.348 others(3): Show c.348G>A	p.Thr others(6): Show p.Thr116Thr	ANKRD1	ENSG00000148677.7	transcript	ENST00000371697.4	protein_coding	4/9	408/1790	348/960	116/319		chr10	TogoVar
ANKRD20A1_chr9_67853931_67907394	67897553	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02922.hp1 HG03098.hp1 HG02922.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0005 a0001c0001t0002g0008 a0001c0001t0001g0005 a0001c0001t0002g0008	2	9	0.2222	0	c.115 others(6): Show c.1153-6T>C		ANKRD20A1	ENSG00000260691.8	transcript	ENST00000562196.6	protein_coding	12/14					chr9	TogoVar
ANKRD20A1_chr9_67853931_67907394	67899325	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19240.hp2 NA19240.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0004 a0003c0004t0001g0004	1	9	0.1111	0	c.149 others(4): Show c.1495T>C	p.Trp others(6): Show p.Trp499Arg	ANKRD20A1	ENSG00000260691.8	transcript	ENST00000562196.6	protein_coding	14/15	1991/3895	1495/2472	499/823		chr9	TogoVar
ANKRD24_chr19_4177689_4229814	4207967	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01884.hp1 HG02145.hp2 HG02258.hp2 others(15): Show HG01884.hp1 HG02145.hp2 HG02258.hp2 HG02486.hp2 HG02622.hp2 HG02630.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03540.hp2 NA18906.hp1 NA20129.hp1 NA20300.hp1 NA21309.hp2	a0005 a0012 a0020 a0005 a0012 a0020	a0005c0006 a0012c0019 a0020c0036 others(1): Show a0005c0006 a0012c0019 a0020c0036 a0020c0037	a0005c0006t0001 a0005c0006t0002 a0005c0006t0004 others(3): Show a0005c0006t0001 a0005c0006t0002 a0005c0006t0004 a0012c0019t0001 a0020c0036t0001 a0020c0037t0008	a0005c0006t0001g0085 a0005c0006t0001g0128 a0005c0006t0001g0173 others(15): Show a0005c0006t0001g0085 a0005c0006t0001g0128 a0005c0006t0001g0173 a0005c0006t0001g0174 a0005c0006t0001g0177 a0005c0006t0001g0190 a0005c0006t0001g0201 a0005c0006t0001g0208 a0005c0006t0002g0211 a0005c0006t0002g0258 a0005c0006t0002g0294 a0005c0006t0002g0351 a0005c0006t0004g0254 a0012c0019t0001g0061 a0012c0019t0001g0087 a0012c0019t0001g0232 a0020c0036t0001g0092 a0020c0037t0008g0131	18	356	0.0506	0	c.831 others(3): Show c.831C>T	p.Ser others(6): Show p.Ser277Ser	ANKRD24	ENSG00000089847.13	transcript	ENST00000318934.9	protein_coding	10/22	919/3838	831/3441	277/1146		chr19	TogoVar
ANKRD24_chr19_4177689_4229814	4212512	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18967.hp2 NA18967.hp2	a0031 a0031	a0031c0046 a0031c0046	a0031c0046t0002 a0031c0046t0002	a0031c0046t0002g0305 a0031c0046t0002g0305	1	356	0.0028	0	c.109 others(4): Show c.1097A>G	p.Gln others(6): Show p.Gln366Arg	ANKRD24	ENSG00000089847.13	transcript	ENST00000318934.9	protein_coding	14/22	1185/3838	1097/3441	366/1146		chr19	TogoVar
ANKRD24_chr19_4177689_4229814	4212513	G G	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18967.hp2 NA18967.hp2	a0031 a0031	a0031c0046 a0031c0046	a0031c0046t0002 a0031c0046t0002	a0031c0046t0002g0305 a0031c0046t0002g0305	1	356	0.0028	0	c.109 others(4): Show c.1098G>C	p.Gln others(6): Show p.Gln366His	ANKRD24	ENSG00000089847.13	transcript	ENST00000318934.9	protein_coding	14/22	1186/3838	1098/3441	366/1146		chr19	TogoVar
ANKRD24_chr19_4177689_4229814	4212520	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18967.hp2 NA18967.hp2	a0031 a0031	a0031c0046 a0031c0046	a0031c0046t0002 a0031c0046t0002	a0031c0046t0002g0305 a0031c0046t0002g0305	1	356	0.0028	0	c.109 others(6): Show c.1098+7G>T		ANKRD24	ENSG00000089847.13	transcript	ENST00000318934.9	protein_coding	14/21					chr19	TogoVar
ANKRD26_chr10_26999116_27105494	27028849	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00597.hp2 HG00609.hp1 HG01070.hp1 others(57): Show HG00597.hp2 HG00609.hp1 HG01070.hp1 HG01071.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01981.hp1 HG02004.hp1 HG02040.hp1 HG02055.hp1 HG02074.hp1 HG02080.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02258.hp2 HG03017.hp1 HG03490.hp1 HG03831.hp2 HG04115.hp2 HG04184.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp2 NA18941.hp1 NA18944.hp1 NA18946.hp2 NA18948.hp1 NA18955.hp1 NA18956.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp2 NA18964.hp1 NA18965.hp2 NA18971.hp2 NA18978.hp2 NA18987.hp1 NA18990.hp1 NA18993.hp2 NA18994.hp1 NA18997.hp1 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19011.hp2 NA19056.hp1 NA19062.hp1 NA19065.hp1 NA19075.hp1 NA19079.hp2 NA19081.hp1 NA19084.hp1 NA19089.hp2 NA19090.hp2 NA20805.hp1	a0002 a0016 a0017 others(4): Show a0002 a0016 a0017 a0018 a0019 a0023 a0026	a0002c0002 a0016c0031 a0017c0024 others(4): Show a0002c0002 a0016c0031 a0017c0024 a0018c0030 a0019c0023 a0023c0029 a0026c0034	a0002c0002t0002 a0002c0002t0007 a0016c0031t0002 others(5): Show a0002c0002t0002 a0002c0002t0007 a0016c0031t0002 a0017c0024t0008 a0018c0030t0002 a0019c0023t0008 a0023c0029t0002 a0026c0034t0002	a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0005 others(56): Show a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0007 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0013 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0007g0350 a0002c0002t0007g0351 a0002c0002t0007g0352 a0016c0031t0002g0035 a0017c0024t0008g0087 a0018c0030t0002g0012 a0019c0023t0008g0086 a0023c0029t0002g0014 a0026c0034t0002g0020	60	358	0.1676	0	c.397 others(6): Show c.3972+3A>G		ANKRD26	ENSG00000107890.17	transcript	ENST00000376087.5	protein_coding	27/33					chr10	TogoVar
ANKRD26_chr10_26999116_27105494	27033377	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00642.hp2 HG01346.hp1 HG02738.hp2 HG00642.hp2 HG01346.hp1 HG02738.hp2	a0011 a0013 a0011 a0013	a0011c0012 a0013c0018 a0011c0012 a0013c0018	a0011c0012t0001 a0013c0018t0001 a0011c0012t0001 a0013c0018t0001	a0011c0012t0001g0117 a0011c0012t0001g0118 a0013c0018t0001g0061 a0011c0012t0001g0117 a0011c0012t0001g0118 a0013c0018t0001g0061	3	358	0.0084	0	c.365 others(4): Show c.3655G>A	p.Val others(7): Show p.Val1219Ile	ANKRD26	ENSG00000107890.17	transcript	ENST00000376087.5	protein_coding	25/34	3823/6775	3655/5133	1219/1710		chr10	TogoVar
ANKRD26_chr10_26999116_27105494	27037868	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01099.hp1 HG02723.hp1 NA20300.hp2 HG01099.hp1 HG02723.hp1 NA20300.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0004 a0006c0007t0004	a0006c0007t0004g0279 a0006c0007t0004g0280 a0006c0007t0004g0281 a0006c0007t0004g0279 a0006c0007t0004g0280 a0006c0007t0004g0281	3	358	0.0084	0	c.255 others(6): Show c.2559+3A>G		ANKRD26	ENSG00000107890.17	transcript	ENST00000376087.5	protein_coding	22/33					chr10	TogoVar
ANKRD26_chr10_26999116_27105494	27038058	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00735.hp1 HG01123.hp1 HG01891.hp2 others(4): Show HG00735.hp1 HG01123.hp1 HG01891.hp2 HG02965.hp1 HG03225.hp1 HG03471.hp1 HG03516.hp1	a0007 a0015 a0007 a0015	a0007c0008 a0015c0019 a0007c0008 a0015c0019	a0007c0008t0001 a0015c0019t0001 a0007c0008t0001 a0015c0019t0001	a0007c0008t0001g0073 a0007c0008t0001g0074 a0007c0008t0001g0075 others(4): Show a0007c0008t0001g0073 a0007c0008t0001g0074 a0007c0008t0001g0075 a0007c0008t0001g0076 a0007c0008t0001g0077 a0007c0008t0001g0078 a0015c0019t0001g0071	7	358	0.0196	0	c.237 others(6): Show c.2376-4G>A		ANKRD26	ENSG00000107890.17	transcript	ENST00000376087.5	protein_coding	21/33					chr10	TogoVar
ANKRD26_chr10_26999116_27105494	27044192	T T	TA TA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00735.hp2 HG01123.hp2 HG01255.hp1 others(28): Show HG00735.hp2 HG01123.hp2 HG01255.hp1 HG01256.hp1 HG01496.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01993.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02922.hp2 HG02976.hp2 HG03098.hp1 HG06807.hp2 NA18906.hp1 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18957.hp1 NA18987.hp2 NA19009.hp1 NA19012.hp1 NA19030.hp1 NA20300.hp1 NA21309.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0012c0016 a0001c0001 a0012c0016	a0001c0001t0001 a0001c0001t0013 a0012c0016t0001 a0001c0001t0001 a0001c0001t0013 a0012c0016t0001	a0001c0001t0001g0079 a0001c0001t0001g0111 a0001c0001t0001g0112 others(28): Show a0001c0001t0001g0079 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0227 a0001c0001t0013g0232 a0012c0016t0001g0116 a0012c0016t0001g0224	31	358	0.0866	1	c.198 others(7): Show c.1986-3dupT		ANKRD26	ENSG00000107890.17	transcript	ENST00000376087.5	protein_coding	18/33					chr10	TogoVar
ANKRD26_chr10_26999116_27105494	27044192	TA TA	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00323.hp1 HG00423.hp2 others(95): Show HG00099.hp1 HG00323.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00673.hp2 HG01069.hp1 HG01074.hp1 HG01099.hp1 HG01884.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02071.hp1 HG02109.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02523.hp2 HG02615.hp1 HG02717.hp1 HG02723.hp1 HG02738.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03471.hp2 HG03540.hp2 HG03579.hp1 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG03942.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18956.hp2 NA18964.hp2 NA18968.hp1 NA18973.hp1 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18984.hp1 NA18987.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19004.hp1 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp2 NA19058.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19074.hp1 NA19077.hp1 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA20300.hp2 NA20905.hp2	a0002 a0003 a0004 others(7): Show a0002 a0003 a0004 a0005 a0006 a0010 a0017 a0019 a0025 a0027	a0002c0002 a0003c0003 a0003c0032 others(9): Show a0002c0002 a0003c0003 a0003c0032 a0004c0004 a0004c0015 a0005c0006 a0006c0007 a0010c0014 a0017c0024 a0019c0023 a0025c0033 a0027c0035	a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 others(17): Show a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0016 a0003c0003t0003 a0003c0003t0010 a0003c0032t0003 a0004c0004t0004 a0004c0004t0011 a0004c0015t0004 a0005c0006t0001 a0006c0007t0004 a0006c0007t0015 a0010c0014t0004 a0010c0014t0014 a0017c0024t0008 a0019c0023t0008 a0025c0033t0003 a0027c0035t0004	a0002c0002t0002g0021 a0002c0002t0004g0278 a0002c0002t0004g0293 others(95): Show a0002c0002t0002g0021 a0002c0002t0004g0278 a0002c0002t0004g0293 a0002c0002t0004g0337 a0002c0002t0005g0341 a0002c0002t0005g0342 a0002c0002t0005g0343 a0002c0002t0005g0344 a0002c0002t0005g0345 a0002c0002t0005g0347 a0002c0002t0007g0350 a0002c0002t0007g0351 a0002c0002t0007g0352 a0002c0002t0016g0349 a0003c0003t0003g0246 a0003c0003t0003g0250 a0003c0003t0003g0251 a0003c0003t0003g0252 a0003c0003t0003g0253 a0003c0003t0003g0254 a0003c0003t0003g0256 a0003c0003t0003g0294 a0003c0003t0003g0295 a0003c0003t0003g0296 a0003c0003t0003g0297 a0003c0003t0003g0298 a0003c0003t0003g0299 a0003c0003t0003g0300 a0003c0003t0003g0301 a0003c0003t0003g0302 a0003c0003t0003g0303 a0003c0003t0003g0304 a0003c0003t0003g0305 a0003c0003t0003g0306 a0003c0003t0003g0307 a0003c0003t0003g0308 a0003c0003t0003g0309 a0003c0003t0003g0310 a0003c0003t0003g0311 a0003c0003t0003g0312 a0003c0003t0003g0314 a0003c0003t0003g0315 a0003c0003t0003g0316 a0003c0003t0003g0317 a0003c0003t0003g0318 a0003c0003t0003g0319 a0003c0003t0003g0320 a0003c0003t0003g0329 a0003c0003t0003g0331 a0003c0003t0003g0332 a0003c0003t0003g0333 a0003c0003t0003g0334 a0003c0003t0003g0335 a0003c0003t0003g0336 a0003c0003t0010g0043 a0003c0032t0003g0313 a0004c0004t0004g0247 a0004c0004t0004g0255 a0004c0004t0004g0257 a0004c0004t0004g0258 a0004c0004t0004g0259 a0004c0004t0004g0260 a0004c0004t0004g0261 a0004c0004t0004g0262 a0004c0004t0004g0263 a0004c0004t0004g0264 a0004c0004t0004g0265 a0004c0004t0004g0266 a0004c0004t0004g0267 a0004c0004t0004g0268 a0004c0004t0004g0269 a0004c0004t0004g0270 a0004c0004t0004g0271 a0004c0004t0004g0272 a0004c0004t0004g0273 a0004c0004t0004g0274 a0004c0004t0004g0275 a0004c0004t0004g0276 a0004c0004t0004g0321 a0004c0004t0004g0322 a0004c0004t0004g0323 a0004c0004t0011g0038 a0004c0015t0004g0324 a0004c0015t0004g0326 a0005c0006t0001g0060 a0006c0007t0004g0248 a0006c0007t0004g0249 a0006c0007t0004g0279 a0006c0007t0004g0280 a0006c0007t0004g0281 a0006c0007t0004g0327 a0006c0007t0015g0339 a0010c0014t0004g0325 a0010c0014t0014g0277 a0017c0024t0008g0087 a0019c0023t0008g0086 a0025c0033t0003g0330 a0027c0035t0004g0328	98	358	0.2737	-1	c.198 others(7): Show c.1986-3delT		ANKRD26	ENSG00000107890.17	transcript	ENST00000376087.5	protein_coding	18/33					chr10	TogoVar
ANKRD26_chr10_26999116_27105494	27060339	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01074.hp1 HG03704.hp2 HG01074.hp1 HG03704.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0341 a0002c0002t0005g0342 a0002c0002t0005g0341 a0002c0002t0005g0342	2	358	0.0056	0	c.156 others(6): Show c.1564+6T>C		ANKRD26	ENSG00000107890.17	transcript	ENST00000376087.5	protein_coding	15/33					chr10	TogoVar
ANKRD26_chr10_26999116_27105494	27066474	CCATAG CCATAG	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02015.hp2 HG02738.hp1 HG02976.hp1 others(41): Show HG02015.hp2 HG02738.hp1 HG02976.hp1 HG03704.hp1 HG03927.hp1 HG03942.hp2 NA18612.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18968.hp1 NA18973.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18984.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA19001.hp2 NA19004.hp1 NA19009.hp2 NA19011.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19074.hp1 NA19077.hp1 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19085.hp2 NA19088.hp2	a0002 a0003 a0025 a0002 a0003 a0025	a0002c0002 a0003c0003 a0003c0032 others(1): Show a0002c0002 a0003c0003 a0003c0032 a0025c0033	a0002c0002t0016 a0003c0003t0003 a0003c0003t0010 others(2): Show a0002c0002t0016 a0003c0003t0003 a0003c0003t0010 a0003c0032t0003 a0025c0033t0003	a0002c0002t0016g0349 a0003c0003t0003g0246 a0003c0003t0003g0250 others(41): Show a0002c0002t0016g0349 a0003c0003t0003g0246 a0003c0003t0003g0250 a0003c0003t0003g0251 a0003c0003t0003g0252 a0003c0003t0003g0253 a0003c0003t0003g0254 a0003c0003t0003g0256 a0003c0003t0003g0294 a0003c0003t0003g0295 a0003c0003t0003g0296 a0003c0003t0003g0297 a0003c0003t0003g0298 a0003c0003t0003g0299 a0003c0003t0003g0300 a0003c0003t0003g0301 a0003c0003t0003g0302 a0003c0003t0003g0303 a0003c0003t0003g0304 a0003c0003t0003g0305 a0003c0003t0003g0306 a0003c0003t0003g0307 a0003c0003t0003g0308 a0003c0003t0003g0309 a0003c0003t0003g0310 a0003c0003t0003g0311 a0003c0003t0003g0312 a0003c0003t0003g0314 a0003c0003t0003g0315 a0003c0003t0003g0316 a0003c0003t0003g0317 a0003c0003t0003g0318 a0003c0003t0003g0319 a0003c0003t0003g0320 a0003c0003t0003g0329 a0003c0003t0003g0331 a0003c0003t0003g0332 a0003c0003t0003g0333 a0003c0003t0003g0334 a0003c0003t0003g0335 a0003c0003t0003g0336 a0003c0003t0010g0043 a0003c0032t0003g0313 a0025c0033t0003g0330	44	358	0.1229	-5	c.126 others(19): Show c.1269+8_1269+12delCTATG		ANKRD26	ENSG00000107890.17	transcript	ENST00000376087.5	protein_coding	11/33					chr10	TogoVar
ANKRD26_chr10_26999116_27105494	27066480	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02015.hp2 HG02738.hp1 HG02976.hp1 others(41): Show HG02015.hp2 HG02738.hp1 HG02976.hp1 HG03704.hp1 HG03927.hp1 HG03942.hp2 NA18612.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18968.hp1 NA18973.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18984.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA19001.hp2 NA19004.hp1 NA19009.hp2 NA19011.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19074.hp1 NA19077.hp1 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19085.hp2 NA19088.hp2	a0002 a0003 a0025 a0002 a0003 a0025	a0002c0002 a0003c0003 a0003c0032 others(1): Show a0002c0002 a0003c0003 a0003c0032 a0025c0033	a0002c0002t0016 a0003c0003t0003 a0003c0003t0010 others(2): Show a0002c0002t0016 a0003c0003t0003 a0003c0003t0010 a0003c0032t0003 a0025c0033t0003	a0002c0002t0016g0349 a0003c0003t0003g0246 a0003c0003t0003g0250 others(41): Show a0002c0002t0016g0349 a0003c0003t0003g0246 a0003c0003t0003g0250 a0003c0003t0003g0251 a0003c0003t0003g0252 a0003c0003t0003g0253 a0003c0003t0003g0254 a0003c0003t0003g0256 a0003c0003t0003g0294 a0003c0003t0003g0295 a0003c0003t0003g0296 a0003c0003t0003g0297 a0003c0003t0003g0298 a0003c0003t0003g0299 a0003c0003t0003g0300 a0003c0003t0003g0301 a0003c0003t0003g0302 a0003c0003t0003g0303 a0003c0003t0003g0304 a0003c0003t0003g0305 a0003c0003t0003g0306 a0003c0003t0003g0307 a0003c0003t0003g0308 a0003c0003t0003g0309 a0003c0003t0003g0310 a0003c0003t0003g0311 a0003c0003t0003g0312 a0003c0003t0003g0314 a0003c0003t0003g0315 a0003c0003t0003g0316 a0003c0003t0003g0317 a0003c0003t0003g0318 a0003c0003t0003g0319 a0003c0003t0003g0320 a0003c0003t0003g0329 a0003c0003t0003g0331 a0003c0003t0003g0332 a0003c0003t0003g0333 a0003c0003t0003g0334 a0003c0003t0003g0335 a0003c0003t0003g0336 a0003c0003t0010g0043 a0003c0032t0003g0313 a0025c0033t0003g0330	44	358	0.1229	0	c.126 others(6): Show c.1269+7T>A		ANKRD26	ENSG00000107890.17	transcript	ENST00000376087.5	protein_coding	11/33					chr10	TogoVar
ANKRD26_chr10_26999116_27105494	27066551	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19007.hp1 NA19007.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0267 a0004c0004t0004g0267	1	358	0.0028	0	c.120 others(6): Show c.1208-3T>C		ANKRD26	ENSG00000107890.17	transcript	ENST00000376087.5	protein_coding	10/33					chr10	TogoVar
ANKRD27_chr19_32592006_32680180	32640389	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01515.hp2 HG01515.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0268 a0003c0002t0002g0268	1	348	0.0029	0	c.905 others(5): Show c.905-4G>T		ANKRD27	ENSG00000105186.16	transcript	ENST00000306065.9	protein_coding	10/28					chr19	TogoVar
ANKRD27_chr19_32592006_32680180	32646622	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0206 a0001c0004t0007g0206	1	348	0.0029	0	c.214 others(5): Show c.214-7T>A		ANKRD27	ENSG00000105186.16	transcript	ENST00000306065.9	protein_coding	3/28					chr19	TogoVar
ANKRD28_chr3_15662236_15802979	15679478	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0005 a0001c0009t0005	a0001c0009t0005g0283 a0001c0009t0005g0284 a0001c0009t0005g0283 a0001c0009t0005g0284	2	340	0.0059	0	c.247 others(4): Show c.2475C>T	p.Ala others(6): Show p.Ala825Ala	ANKRD28	ENSG00000206560.12	transcript	ENST00000683139.1	protein_coding	22/28	3933/7744	2475/3252	825/1083		chr3	TogoVar
ANKRD28_chr3_15662236_15802979	15686316	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp1 HG00408.hp2 HG00423.hp2 others(110): Show HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00597.hp2 HG00621.hp1 HG00673.hp2 HG01069.hp2 HG01099.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp2 HG01433.hp2 HG01884.hp1 HG01891.hp2 HG01934.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02523.hp2 HG02559.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02886.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03239.hp1 HG03453.hp1 HG03490.hp2 HG03579.hp2 HG03710.hp1 HG03927.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18940.hp1 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp2 NA18957.hp1 NA18961.hp1 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18971.hp2 NA18977.hp2 NA18980.hp1 NA18982.hp2 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18998.hp2 NA19001.hp2 NA19003.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19043.hp1 NA19054.hp2 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19091.hp2 NA20129.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0005 a0001c0007 others(2): Show a0001c0001 a0001c0005 a0001c0007 a0004c0008 a0006c0012	a0001c0001t0002 a0001c0001t0006 a0001c0001t0013 others(13): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0013 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0005t0020 a0001c0007t0031 a0004c0008t0002 a0006c0012t0006	a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 others(109): Show a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0006g0304 a0001c0001t0006g0305 a0001c0001t0006g0306 a0001c0001t0006g0307 a0001c0001t0006g0308 a0001c0001t0006g0309 a0001c0001t0006g0311 a0001c0001t0006g0312 a0001c0001t0006g0314 a0001c0001t0006g0315 a0001c0001t0013g0001 a0001c0001t0013g0028 a0001c0001t0023g0003 a0001c0001t0024g0004 a0001c0001t0026g0006 a0001c0001t0027g0007 a0001c0001t0028g0008 a0001c0001t0029g0009 a0001c0001t0032g0066 a0001c0001t0033g0101 a0001c0001t0034g0102 a0001c0005t0020g0300 a0001c0005t0020g0301 a0001c0007t0031g0049 a0004c0008t0002g0043 a0004c0008t0002g0088 a0006c0012t0006g0310	113	340	0.3324	0	c.196 others(6): Show c.1964-7T>C		ANKRD28	ENSG00000206560.12	transcript	ENST00000683139.1	protein_coding	18/27					chr3	TogoVar
ANKRD28_chr3_15662236_15802979	15712134	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00140.hp2 HG00423.hp1 others(123): Show HG00099.hp2 HG00140.hp2 HG00423.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02056.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02602.hp1 HG02615.hp2 HG02683.hp1 HG02735.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp1 HG03017.hp1 HG03239.hp2 HG03490.hp1 HG03540.hp1 HG03654.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18747.hp2 NA18940.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18962.hp1 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18982.hp1 NA18983.hp1 NA18985.hp1 NA18991.hp1 NA18994.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19003.hp2 NA19005.hp1 NA19010.hp2 NA19011.hp1 NA19054.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19080.hp2 NA19088.hp2 NA19089.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0006 a0003c0015 a0001c0002 a0002c0006 a0003c0015	a0001c0002t0001 a0001c0002t0007 a0001c0002t0011 others(16): Show a0001c0002t0001 a0001c0002t0007 a0001c0002t0011 a0001c0002t0014 a0001c0002t0022 a0001c0002t0038 a0001c0002t0040 a0001c0002t0041 a0001c0002t0042 a0001c0002t0043 a0001c0002t0045 a0001c0002t0046 a0001c0002t0047 a0001c0002t0048 a0001c0002t0049 a0001c0002t0051 a0001c0002t0055 a0002c0006t0001 a0003c0015t0011	a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 others(123): Show a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0134 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0183 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0188 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0007g0174 a0001c0002t0007g0175 a0001c0002t0007g0176 a0001c0002t0007g0177 a0001c0002t0007g0179 a0001c0002t0007g0182 a0001c0002t0007g0184 a0001c0002t0007g0187 a0001c0002t0011g0235 a0001c0002t0011g0236 a0001c0002t0011g0237 a0001c0002t0014g0109 a0001c0002t0014g0110 a0001c0002t0014g0111 a0001c0002t0022g0002 a0001c0002t0038g0106 a0001c0002t0040g0108 a0001c0002t0041g0169 a0001c0002t0042g0133 a0001c0002t0043g0122 a0001c0002t0045g0161 a0001c0002t0046g0153 a0001c0002t0047g0189 a0001c0002t0048g0226 a0001c0002t0049g0229 a0001c0002t0051g0279 a0001c0002t0055g0321 a0002c0006t0001g0135 a0002c0006t0001g0202 a0002c0006t0001g0203 a0002c0006t0001g0207 a0003c0015t0011g0234	126	340	0.3706	0	c.127 others(6): Show c.1273+6T>C		ANKRD28	ENSG00000206560.12	transcript	ENST00000683139.1	protein_coding	11/27					chr3	TogoVar
ANKRD28_chr3_15662236_15802979	15714661	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0012 a0001c0005t0012	a0001c0005t0012g0319 a0001c0005t0012g0319	1	340	0.0029	0	c.997 others(5): Show c.997-5C>A		ANKRD28	ENSG00000206560.12	transcript	ENST00000683139.1	protein_coding	8/27					chr3	TogoVar
ANKRD28_chr3_15662236_15802979	15795216	G G	GT GT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01168.hp1 HG01169.hp2 HG01891.hp1 others(10): Show HG01168.hp1 HG01169.hp2 HG01891.hp1 HG02258.hp2 HG02602.hp2 HG03225.hp2 HG03453.hp2 HG03540.hp2 HG03579.hp1 HG03710.hp2 HG03834.hp1 HG03942.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0238 a0001c0001t0004g0239 a0001c0001t0004g0240 others(10): Show a0001c0001t0004g0238 a0001c0001t0004g0239 a0001c0001t0004g0240 a0001c0001t0004g0241 a0001c0001t0004g0242 a0001c0001t0004g0243 a0001c0001t0004g0244 a0001c0001t0004g0245 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0248 a0001c0001t0004g0249 a0001c0001t0004g0252	13	340	0.0382	1	c.201 others(6): Show c.201+6dupA		ANKRD28	ENSG00000206560.12	transcript	ENST00000683139.1	protein_coding	2/27					chr3	TogoVar
ANKRD29_chr18_23593926_23667911	23612189	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02698.hp1 HG02698.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0144 a0007c0008t0001g0144	1	352	0.0028	0	c.725 others(3): Show c.725A>G	p.Asn others(6): Show p.Asn242Ser	ANKRD29	ENSG00000154065.17	transcript	ENST00000592179.6	protein_coding	9/10	906/3387	725/906	242/301		chr18	TogoVar
ANKRD29_chr18_23593926_23667911	23649075	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	352	0.0028	0	c.132 others(5): Show c.132+8G>T		ANKRD29	ENSG00000154065.17	transcript	ENST00000592179.6	protein_coding	2/9					chr18	TogoVar
ANKRD2_chr10_97567779_97588884	97583578	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0066 a0001c0007t0001g0066	1	442	0.0023	0	c.855 others(3): Show c.855A>G	p.Ala others(6): Show p.Ala285Ala	ANKRD2	ENSG00000165887.12	transcript	ENST00000370655.6	protein_coding	9/9	865/1171	855/1002	285/333		chr10	TogoVar
ANKRD30A_chr10_37120598_37237567	37177323	GTCTTATT others(11794): Show GTCTTATTTATTTTTGATGAGGACTAGAACGTAAGTTAGATATTTTTAAG AGAGATACTTTTTGAAATATGCACGAGTGAATTTTTTGTGAAGGTGATTT GTTTTTCCTGCTCAGTCACCGAGTTAATGGCCACGTGAACGTAAAGATGA GCTTGATGTAGAGAGGGTTATGTGAGGTTTTCTATCAAAATGTGTTTGTT TTCTACATGTATCTGCTCTTAAGTCGAATTGTTTGCAAAGGAGGAAATTG TGTTTTTAAAAAAGAATTTAATTAGGAAATTTTGATACTCTTCATTACTA GGATTTATCCATTGAAATTATTTATTGCTATTACTTTTAACAGAGTCTCT GTGAGACTGTTTCACAGAAGGATGTGTGTTTACCCAAGGCTGCGCATCAA AAAGAAATAGATAAAATAAATGGAAAATTAGAAGGTAAGAACCGTTTTTT ATTTAAAAATCATTTGACCAAATATTTCTCTAAATTGATGAGGAAGGATA TCCTCTAGTAGCTGAAGAAAATTACCTCCTAAATGCAAACCATGGAAAAA AAGAGAAGTGCAATGGTCATAAGCTATGTGTCTCATCAGGCATTGGCAAC AGACTATATTGTGAGTGCTGAAGAGGAGCTGAATTACTAGTTTAAATTCA AGATATTCCAAGACGTGAGGAAAATGAGAAAATAAGAAAGAAGAAAGTAG TAATAGAGTAAATGAAGACTGAGAAAGACAGAGCGTACAGAGAGTACATG AAGGAACAAGAAACAGGTTTATGTAATGGAGGATGATAAAATGAAATGAT TGTTTAGGAAAAGATCGGGTATGGTTAGAAATTTGGGAAGAATATAATGT GACCTTCTAGAATCAAAATTTACCAGAGAATTACAGCAAAAATATTCTGA CTCTTAATGTCTTTCTCACTGGTGGGAAGCCATTAGGGATGGAAGCACCT GACCATGGAGAGCTGTGTTCTATTTGCAATAGGTGAGAATAAGCATATCT GCACGGCCACACATGTATATAAATTGTCATATACACTCCGTATAGACCAG AGGTTTTCAAACTTTAGAAAGTCAGCTGAAAACCTTGTTAACAATTCACA CTGAGATTCAGCCGACCTGGGATTCTGCATTTTTAAAAAGTTCTCAGGTG ATGCTGATGCTGGTGGTCCTTGGACGTTGCTCTGGGTAGCAAGAGGAGAG GCCTTTTGTGGGAAAAATGTGGAAGCAGAGCAACTGGATAGAAGGTCAGG ACAGAAAAGGTCAGGAGAAAACATCATGGTCCTCTTAATTTTGAGGATGT TTTTAGTCAGGGGAGAAGAAGAAAGGAGCAATGCAATAGAAATTATAGAT GGAAGGTACTACCACTCCTCAAAGTAAAAGGAAAGAGTGGGAAAAAATAA TTTTAACAGGTGTCGAATGGGAAGAATCAAGAGCACAAGTCTAGTGATTA TTTTTGCTAAAGCAGAGAGATTGTGAGGCAGGAAGCAGGGGACAAGAGAG AAGCCAGCTAGATGATTTTGGATTTTCTATGAAGGAAAATGGAGTGAGCT CACTTCGGAAGCATTTAGAAAAGTTTTACTGCAGAATGTTAGAGTGTGGG TGCTCTGGAGACTACTGGAATCATGAGGATTACTAGAATTGGACTAAACC TCAGTGACTCATTAATTTTCTTTATTACTATGAGGCGTCAAATATATATA TATATATATATATATATATATATATATATATATATATATATAGATGTGTG CATGTATGTATGTTTTTGACGTTCACAATTTGAATAAGATATACTTGAAT GTAAGAACCTTGGCTTTATTTTTAAGGAAGCAAATTGTGTTGGTAAAATT GCCATTTTATAAAACCTCATTAGTAAATAACATGCTACACGAAACCAGAC TAATTTTGAAAACCATAAAACTCTGAATTTATGACTTGAATACCTAAATT GTTGTTATTCGTAGGTATTTTACTGATTTTAACGTAGAAAATGTTATTAA TATTTAAAAGTCTGTTGTAACTAAATTTAAATGAAATACATCAATATTGA AAGCTTATTAAATTTGCTATTCCTGATGAGATTTGTACATCTTCCTGCAT GAGTGGATTAAGAGATATTGAGATGACTAAGCTAGAAATTACAAAAATGT TGGCATACTATTCCTACATTATGGGAATGAATACCCATATTCCAAGTATA TGGGTATGAAAATCAAGGAATATTTATATTTAATATTATGCTCTAAGTAT ATATCCAAGCTGATCAATTCATAACACTTTTTCTGATGAGATGTCAATTC TACATTCAGCTGAACTCTTATCCGAACTGTGTGGCTTCTCAATGACAGGA CATATTAAAGAACATGATGAATGTTTGTAATGCAATGATATAAATTATTA TAATGTGTTGCCTTAAAGACACATGGTGTAGCATTCTACGTTCAGCTTTT GCATTTATTTTCTCAGTGTCATGATTTGCTCCTGTGATTCCAGATCAGTT GTCTCCTTATCAGTCAGCATATACTTATTGGTATTAACACTTTTTGCAAA AATCATATATAAATGGTTGTACAATGTTGTTGTCATTCTACAGCAACTTT TTAATTTTTGTTCAGCGATTAGCTTGTTTTTCATTTATTTTAAGATTTCA GGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGTAGGCCAA GGTGGGTGGATCACGAGGTCAGGAGATCCAGACCATCCTGGCTAACATGG TGAAACCTCACCTCTACTAGAAATACAAAAAATCAGCCGGGCGTGGTGGT GGGTGCCTGTAGTCCCAGCTACTCCGGAGGCTGAGGCAAGAGAATGGCGT GAACCCGCGAGGCGGAGCTTGTGGTGAGCCGATATTACATTATTGTAACA TTGAAATATGCAGGTGAATGATATATAAAAAGCCTCTGGAAGTTTACTTC TAGTTTTTGATACTTTCACGTTACGTGTTTTTTCTTTTTTAGAGACAGAG TCTCGCTCTGTCATCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACT GCCACCTCCAGCTCCTGGGTTCAAGTGATTCTGGTACCTCAGTCACCCAA GTAGCTGAGATTACAGGCATGTGCCACCATACCTGGCTGATTTTTGTAAT TTTAGTGGGGACAGTGTTTCTAAAATAGTGATTTTGGCCAGGCTGGTTTG GAACTCCTGGCCTCCAGAGATCCGCCCTCCTCAGCCTTCCAAAGTGCTGG AATTACAGGCATGAGCCACTGCACCTGGCCTGTATTGGTTTGTTGATGGG TACGCTTGGACCTTTTTGTATAAGTGGATCAGGAAATTTTAAGAGGACTA AACTAGAGAACCCTATGAATGTGAAAATACTCGTATTTCACAGAGGTACA AAAATGAATATATTTATTAACTTTTATTCTATAGGTAGATATGCTGCTGA ATTTAGAACATTCTCTGCAATGATAAGTACGTTGTACCTTTGAACTCTCA TCACAACTTTGCAATTCCTAAACTCCAGGACAAATTGAAGGACATAATAG CTACATGTATATATTGACATAAGTGATTCTGACGTGTTTCCTTAACAATA TGCCATAGCATTCTCCCATTAGCTTAGTCATTTATTCTGTTTTGGTGGGG TGTGGCATGACTTGGTCATCTTATTAAATACAACTTCTTTCCTAATACGG CCGCTTTCTCTTACTGATAGTAGGATATTTCTGCTTTAGTTATTGTCACC TTAAATATATTTTCAATGTTGAAATCCTCACAGCATGTTTGATGAAATCT AGTTTTCAAATTTTCTTAGGTATATTTCTGTCACGTTGGCATGATAACAA ATGCAATAACCCAAAAGACCCCAAAAGCTAGTGTAATCCCTTTTGCAATC CAAGCATGAGGATTCATCTTCATGTTGACAGTGCGTGAATGTTCGGTAGG CTTTGTCAAGCTTGCATACAATAAATTATATATGTCCCTTTTCTTTTAGG GTCTCCTGTTAAAGATGGTCTTCTGAAGGTAATAACTTTTATATTTTTAT CTTGAGTATTAACTACATATTTTATGAAGTATACATTGTATATTAATTGT TTTCTTTCCAAACCCATTTAGGCTAACTGCGGAATGAAAGTTTCTATTCC AACTAAAGCCTTAGAATTGATGGACATGCAAACTTTCAAAGCAGGTAAAT TTTGTAATTTTAATTTTACTCTGGAAAGAAGAATATTAAAATATTTGAAA TGCTGTGAGACTTTTCATTCCCAATGTTGTTTTCTATTCATAATTTGATG GGAAATTTCGATACAAATAATGCCAATGTGAGTATTTCTGTTTGAGAAAA TGCCATTTACAAGCATAAGATTTAGAGATTTAGAAAAAAAATTCTGCTTT ACCTCATGTGGTTCTACTTTAATGTCCTGATCGGATAAAGTTTCCAATTT GCAATTTCTGTACGCGCTTGGTTTTAAGGTAGGTGAATTTTGAGACTGTG AAATATTTGCAGTGGTTCGAAGGCTGATTGGAATTCTGATGTTTACTCAG AAGAAAGTTTCACTTGCTGACATGACAGTTGTGAGTGTTACCACTCTGAG AATCTTAAGAAAATCAGTTTTTTTTTTAATAGATGACTGTGTGTGTGTGT GACTTATAATTTTAAAAAATCAGTCAAGCAATCATTACTTGATGACTCTT TGCTAGGCACCGCATTTTAGAAGAGTGACCCCAAAGCATTTGGCCTTGGT GTGTTTTAATGCTACTGTAATGAATTGCCTAGAGATACAAAAGAGCCTGA AGTAGTTTTTGTCATTCCCGTGAACGTTTACAACATTTTACAACAGGCCT TGCACGGTGGCACATGCCTGGAATCCTAGCAGTTTGGGAGACAAAGGCGG GCAGATAAGTTAAGGTCAGGAGTCCCAGACCAGCCTGGTCAAACTAGTGA AACCCCATCTCTACTAAACATAACAAAAAATAGCCGGTTGTGGTGGTGGG TGCCTGTCATCTCAGCTACTCTGGAGGCTGAGGCAGGAGAATGGCTTGAA CCTAGGACGCAGAAGTTGCATGAGCCGAGCTTGTGCCACTTTAGCCTGAG TGACAGAGTGAGACTCCATCTGAAAAGGTAAAGAAATAAAAACACAAAAC TCACAACATATGTGTGGTTATAGACTATGTGTAGAATTTGTTTTCATGTC TTATAGGCTGTGTGTAGAATTTGTTTTCATGTCTTAAATTTTCTTTTTTT TTGTTTGTATTTTTTTCTTCAGTTTTTTTGTTTGGTTTTGTTTTTGTTTT TTTGAGATCACCCAGGCTGGAGTGCCATGGCGCCATCTCGGCTCACGCAA GCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAG CTGAGACTCCAGGTGCCTGCCACCACGCCCGGCTAATGTTTTGTATCTTT AGTAGAGACAGGGTTTCAGTGTGTTAGCCAGGATGGTCTGATCCGGATCT CCTGACCTTGTGGTCCGCCCGTCTCGGCCTCCCAAAGTACTGGAATTACA GGCATGAGGCACCGTGCCCGGCCGATGTCTGAAATTTTCAATAAATAGTT GTACACTGTACATATTGTCCTGGAACTTCCTTGTTTGCTTATCGAATATT TTAGATGGACCCAATACAATTAGCTCTGCTTTGATTTAAGGCCTCATAGT TTGCCATGTTAACTCTAAAACACATTTAATTAGACTGTGTTTCCTAGCCA CTAAAAGTCGACATTAAATGGCAGCTGATATCACAGAGCTTTTACTGAAG TGGGAGTATTTACTGCTTCATCCACTGTTAGAAATTAAAATGAAAATATT TAAAATACACGAATTGGAAAAGTCCTACTTTCCAATACGCATTACAACTG TTACTCATTAACCATGAAAATTATGACATTGTGACATGTCATGAGTCTGA AAAATTTTAGTTTACACTTTTTAGAAAATATCAGTAAATAGGAGAAATAG GAAAAACATTATGTGAACTATTAGGCCCCCGGTGTATTTGTTGAACTTCA GAGATGCTCAGATCAGAAGCTAGAACAAGAATTTTCAAAAATGCATAAGG TTTTAAAGTGCCAAATAACAAATGGGCTCTTGTATATGAAATAATGTCTG AAGTTGCACCTCTGAGTCTTTTCTCTCTTTTTCTTTTTTAAAAAGATATA AATCAAACAAAATCAAAATTTTGTTTATAATGAAAAGAGTTGGTTACAGA TTCATTCTGTGTCTCATGGCACTGTGCTCTCTTTTTCCCTAGAGAGGATC TAGACTTTTCATCTGTTTACATGGGAAGAAGTAGTTCAGTTTATGGTCTC ATTTCTCATATAAACTGTGAAAATTCTCCACGGCTTCACATGCTAGTTCA GAAGATATTGATGCCTTGAGAATAAAGCATCTGGTTGTAACTCCAGCAGT TTTATATTTAAAGTATACCTAATATAATTGTCAACCACATTACTTTAGAA AACATAAACAAAAGATAGTTACACTTATTTATTTAAAAAATGGTGACCGG GTGCGGTGGCTCACGTCTGTAACGCCAGCACGTTGGGAGGCCGTGACTGG CAGATCACGAGGTTAGGAGATCGAGACCATCCTGACTAACACGGTGAAAC CCTGTCTCTACTAAAAATACAAAAAATTAGCCGGACGTGGTGGCACGCAT TTCTAATAATTTCTCAGGCGATGCTGCTGCTGGTGGTCCTTGGAGCTTGG TCTGAGTAGCAAAAGGAGAGGCCTTTCATGGGAAAATAGTGGAAGAAGAG CAGTTGGATAGAAGGTCAAGACATAACAGGGTCAAGAGAATGCATTATAT TGCTTTTATTTCTGGGTATGCTTTTAGCCAGAGAAGAAGAAGAAAAAGAT AAACAGAAATTATAGATTTAAGATACTATCACTAAACAAAGAGAAAGGAA ATGTTGAACAAATAAATTTGAAACAGTGTTGTATGGGAAGAATTCTACAG AGTTAGAGGTTTTTTTTTAATTTCTTTTTTTTTTTTTTTTTTTTTAGTAG AAGCATTCAAGTCAGGTAACGGGACAAACAAGAAAGAATGTAGGCAGGTA ATTCTGGAGACTCTGAGAAGAACAGTTGAGTGAACTCACTTCAGATGCAT GTAGATTATTTGCACTCCAGAATGTAGACTGTGGGCACTCCAGAGACTAC CAGAATTGGGGGAACCACAGTGACTCATTAGGTTTCTCTGTTACAATCAG GCATGAGAAATATATATATTTTGTTGATGTTAGCTATTGAAATGAGATAT ATTGGAAACTGAGAACATTGGCTTTATGTTTAAGGAAGTGTGTTGTTTTG GTAAAATTGCCATTCCACAAAAATTTATTATAGACTAATGATACACCAAA CCAGGCGAATTGTAGGATCTGAAAAAATACTGAATTTATACTTGAATAAT AAGATTGCTTTTTAAGATAAATATTGTGGTGACTTAACAATGTAAAAAAA GTTACTTATGTTTATTTAATCTATTGCAATAAATTTTTATATAAATATGT CAATATTGAAAGCTTAGTATAGATTATTTCCATGATGAGTTTTACACATC TTGCATGAGTGGATCGAGAAGCATTCAGATGGATAAAGTAGAGGATACAG AATCATAGGCATATGATTACACCCTATGGTTATGGAAAAAAACGAATATT CATATTTAGTATTATGACCTAAGTGTATATCCAAGCTGATCAATTCATAA CACTTCAGTGATGAGATGTCAGTTGTACATTCGGCTGAACTCTCATCATA ACTATGTACCTTTCCAAAGATAGGCTATATTAAAGAACAGGATGAATGGA ATAATATAAGTGATTCTAATGTGTTTCATTAAGTACGTGGCGTAGCATTC CATGTTCAGCTTTGACATTTATTTTCTCATATCAACCCTTTTTACACGTG AAACACAATCTCGCTCTTGAAGTCTTAACTGCATGATCTGTGAAACCTGT ATTTATATTTTCTTCAGTGTATTCTTGTCGTGTGTGTGTCCTAAACAAAC CAAAAGAAAACTTTCCAAATCTAAAGTATTCATTCTCCAATTGGAGCAAG AGGAGTCAGTTAGATACTATCACGGCATTCATTTGTGGCTGGCTTGTCAT ATTTACTTATGATTGATAATAAATCTATTTTGCTTTTTAGAGCCTCCCGA GAAGCCATCTGCCTTCGAGGTATTTAGTTTCATGATTTCATTTTGAATGA CTTATTAACTATGTATTTTGTGAAGTATACATTCTTTATTAATCATTTTG CTTCCAACCCCATTTAGCCTGCCATTGAAATGCAAAAGTCTGTTCCAAAT AAAGCCTTGGAATTGAAGAATGAACAAACATTGAGAGCAGGTAAATTTTT TAATGGAACTATGCAAAGACCAATATTTCAATATTGGACATTTTGATGGT CCTTCTATCCCCAATGCTTTATTTTTTTCAACTTTGATGAAAAGATTTGA TCTAGGTAATGCCAATACTGGTATTGATGTTTGAAAAGCTGGTATTACAA GCACAGTAATTTTCAATATCTTTTTTTAAAAATGTAGGCTTAATCTCAGA TGTTTCTACTTTTGTATCCTGAAACTGTAATGTTTTCTATTTTGAACTTC TGTATTTCTTAAGGATTCAAGAAGGTGAATGTTGAAACTCCAATTTCTTT TTTTAGCTCTTCGAAGCTTGATTCAAATTCCACGGTTTACTTCGGGGATC CCATCTCTTACTGATATAACCCTTGTGTTTTAACATGAATTACCTTGTTT CCGGTGTTGTCACTTTGAGAATCCTAAGAAAATCAGTAACTCGGACTAGT GAACTCTGTGTGTTTATGTGTGTGTGTGTCTGCGTGTGTGCCTGCGTGTG CCTGTGTGTGTGTGGTACCTTTACCTTGTAAAGATGAGGAAAGGAATTAT TCATTTCTTTGTGAATATTTGATAAACACACTTTTTCATGAAACTGTGAT TCTGAAGCATTTGGCTTTAGAGTCCTTTTACGCTAGTACCATTTATTGCC TGGAAGTAACCAATATTCTAAACTGTTTTTAGAAACTCTTCTTATGCATG TTTAAACATTTTACAACATGTGTGCGTGGTCATATTTAATATGTACGATT TTTTTCAACTTCTAATGTGTACATGGTTGTAGAGTGTAGTGTTCGGCAAC ATTCTTTTTTGATCAGCATTATAATTTTTAGAGACATCCGTAAAGGACAC AATTAATTGTGTTTTTAAATATTAGGTTATTTATAAAATTCCATTGTATG ACAGTACCATAGTTAATTGCACAATTTTTATGCCGAGAAGTAATAAATAA AACTGAAAACATGCAAATTTGGGAGTCTTTAAAAAGTTAGTTTTATCTGC TGATTTCTTAGTCATTAGAAATTAAAAGTAACATATTTAAAGTATTTCCT TGTGCAATCATACACTCCACTAAGAATTTGAACTGTGCCCCACAGCTTCT TAGAGCTATGGTGTGGCAACACGTTAGATCTCTGAAACGATCCAGGGTAC GCTTCTAAAAATGAGTGAACATGGTGACTTACCAAAGTGTGATTTGAGTT TCCTGGACCCTCTGCATGAAATGTGAACATGAGCTATGCTGAGATCACAA GTTAAATTTACTTTTGAAACCAGGTATACAGTTGATGGATGTCAAATGAT AAACGTATGCATAGTGATGAAACGGTCTTTTAAGTTTTAGGTGTGCATGT TTGCTTTTTTCCTGAACCTGATTCAAATAGTTGTAATTTGTACTTTGTGC TGATAAAGAAAACTGGACGTTATTTTTGGTATAAATTCTTTTTCTGTCTT ATGTCCCTGAGAACTCGTCAAGTCTTGAGTGGGCCTTGATTTTATCCTAT TACACGTGGGAACATTAGATTACTTAAGGCAATTATATTTTCCTATACAT TTCTGATGTTTCTCCAAGGTGTCACAAGCTGACTCTGAAGATATTGTTGC ATTAGGGAAGAAGTGTGTCATTGTAAATGAAGCAGTTCTTAATTTATACG CAATAAAAGTTTTTTAAGCTTATCTTCCTAAAGCTTATACACACGCAAAA CACACCCAATACACTGTCATAGCATACTGAAATGTAAAAGGGTTGGACAT ATAGTTGACTGACATCAAAAAGTTAATATTTCTAAAACATCTTATTCATT GATAAATCATCTTTTTTGAAGAACTGTGTAAGAGAGATTGCTGAGTCAAT CAATGTAAGTAATACTACCAAATAAAAAGTAACAAAGAAATGAGAGATGA TAGGTAATTCCAGTTTTCTGAATGAACAGGAAACCTAGGGCATACTGCGC TTCACAGGAGAATAGGATATGACTGCTTTGTGAAGAGATAATTCATACAA GTTAGTTAAATTTCTATTTTTCTGCATTCTAATGAAATAATGTTAATTTT CAGACTTTTTAGATTTCAGTTCTATTGGAATGACTATAGAAGTAGTCATT GCAATCAACAAAAAGAATATACGGGCTACAGAGGAAAAACCTCAGATTCG TGAATGAAAGTAGATTTGTATATGTTTTTAAAATTTTTAGTAGAGAACTG TGCTCATGAATGTATCTGTGATTAACCTTTTATAGATGAGATACTCCCAT CAGAATCCAAACAAAAGGACTATGAAGAAAGTTCTTGGGATTCTGAGGTA CTATGTGTTATTGATTTTTTAAATATTAGTATTGCATGATATGAAAACAT AAAATCAGATGCTTAGACTTTATGTTCTCACCTCTGCATGTGTCACCCCC AAATTATTTTTGATATTTTTCAGTATATGCTTAACGGAGAATCTGTGTGC TAAGTAGATTCCTGCTTCACAGTGAAATTCTGGGAATTTGTACGATTAAT TTAAGAAGCCAAAGTGGTATAGTGTAAAAACTAAGGCTTAGAATTCACTA GAAATTCACATGGGATCTGGAGTACTTTTGTCTAAAAGGAAAAGAATTAC ACTGAGTCCAGCTATGGGCAAATATATGATTCTGTCTTATATCTAGAGGT AGAAAAGTTCTAATTGTATTCATAGAGAGACACTTTAAACTGCAATATTG TAAAAGTTGGGACCTGAAAATTTAATGCCTGGGACTTGAACGTATTGACA TATCTTTATTGTTCAGTATAGATCTGAAGGAACATTTCAGCAGAAAGGAA AGCATGAGGAATAGGAAACCTTGTGGGAGTATAATAACAAGAGTATTGGT TGAGTAGTCTTTTGAAAAATATAAATTATATTTTCGCAAATAGAACTCCT TGAGTCCCCTTATGGCAGTCAAGCTGAAGCAGCATGAGCGTCATATCATA GTGATGTATTTTAAGGTCACAACGGCGGAAAGACATAGAAAGTATCTGAC CTCTTAGAAACAAGCAGCTGCTGCCTGGTGGTAACAGCAAAGGGTGGAAG TCAATAGGTAGATTTTATCTGATATTTTATTAGACAGAAAGACTTTAACA CTTGTTTGCTTTCATTTAGATGTGACATAATTTTTTTCTTACTGCATTTA CATTCTATTCAAACACTTTTTCTATCACCAAAAATTTTGTCAAAAACATG TTGCTTATTTTAAGCCCCTGTTTACCGAAAGAAAGCAGCTTTTTCAAATT CTGTACATACATTCTATGACAGACTCTAAAAGTTCTCTTCGTGACATGCA TGATTTTTAACAGTAAACAGTTCTATGATCGTGAATATTTTAAATGTTTA CTGCTGTATGTGTCCCGGCAAGTAGCAAATGTGTTGTATTTTGTTTGAAA TT	G G	splice_acceptor_variant others(3): Show splice_acceptor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	286	0.0035	-11801	c.242 others(14): Show c.2421+1496_2469del	p.Ser others(13): Show p.Ser808_Thr824del	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	25/36		2422/4194	808/1397	INFO_REALIGN_3_PRIME	chr10	TogoVar
ANKRD30A_chr10_37120598_37237567	37177714	GCGCATCA others(11794): Show GCGCATCAAAAAGAAATAGATAAAATAAATGGAAAATTAGAAGGTAAGAA CCGTTTTTTATTTAAAAATCATTTGACCAAATATTTCTCTAAATTGATGA GGAAGGATATCCTCTAGTAGCTGAAGAAAATTACCTCCTAAATGCAAACC ATGGAAAAAAAGAGAAGTGCAATGGTCATAAGCTATGTGTCTCATCAGGC ATTGGCAACAGACTATATTGTGAGTGCTGAAGAGGAGCTGAATTACTAGT TTAAATTCAAGATATTCCAAGACGTGAGGAAAATGAGAAAATAAGAAAGA AGAAAGTAGTAATAGAGTAAATGAAGACTGAGAAAGACAGAGCGTACAGA GAGTACATGAAGGAACAAGAAACAGGTTTATGTAATGGAGGATGATAAAA TGAAATGATTGTTTAGGAAAAGATCGGGTATGGTTAGAAATTTGGGAAGA ATATAATGTGACCTTCTAGAATCAAAATTTACCAGAGAATTACAGCAAAA ATATTCTGACTCTTAATGTCTTTCTCACTGGTGGGAAGCCATTAGGGATG GAAGCACCTGACCATGGAGAGCTGTGTTCTATTTGCAATAGGTGAGAATA AGCATATCTGCACGGCCACACATGTATATAAATTGTCATATACACTCCGT ATAGACCAGAGGTTTTCAAACTTTAGAAAGTCAGCTGAAAACCTTGTTAA CAATTCACACTGAGATTCAGCCGACCTGGGATTCTGCATTTTTAAAAAGT TCTCAGGTGATGCTGATGCTGGTGGTCCTTGGACGTTGCTCTGGGTAGCA AGAGGAGAGGCCTTTTGTGGGAAAAATGTGGAAGCAGAGCAACTGGATAG AAGGTCAGGACAGAAAAGGTCAGGAGAAAACATCATGGTCCTCTTAATTT TGAGGATGTTTTTAGTCAGGGGAGAAGAAGAAAGGAGCAATGCAATAGAA ATTATAGATGGAAGGTACTACCACTCCTCAAAGTAAAAGGAAAGAGTGGG AAAAAATAATTTTAACAGGTGTCGAATGGGAAGAATCAAGAGCACAAGTC TAGTGATTATTTTTGCTAAAGCAGAGAGATTGTGAGGCAGGAAGCAGGGG ACAAGAGAGAAGCCAGCTAGATGATTTTGGATTTTCTATGAAGGAAAATG GAGTGAGCTCACTTCGGAAGCATTTAGAAAAGTTTTACTGCAGAATGTTA GAGTGTGGGTGCTCTGGAGACTACTGGAATCATGAGGATTACTAGAATTG GACTAAACCTCAGTGACTCATTAATTTTCTTTATTACTATGAGGCGTCAA ATATATATATATATATATATATATATATATATATATATATATATATATAT AGATGTGTGCATGTATGTATGTTTTTGACGTTCACAATTTGAATAAGATA TACTTGAATGTAAGAACCTTGGCTTTATTTTTAAGGAAGCAAATTGTGTT GGTAAAATTGCCATTTTATAAAACCTCATTAGTAAATAACATGCTACACG AAACCAGACTAATTTTGAAAACCATAAAACTCTGAATTTATGACTTGAAT ACCTAAATTGTTGTTATTCGTAGGTATTTTACTGATTTTAACGTAGAAAA TGTTATTAATATTTAAAAGTCTGTTGTAACTAAATTTAAATGAAATACAT CAATATTGAAAGCTTATTAAATTTGCTATTCCTGATGAGATTTGTACATC TTCCTGCATGAGTGGATTAAGAGATATTGAGATGACTAAGCTAGAAATTA CAAAAATGTTGGCATACTATTCCTACATTATGGGAATGAATACCCATATT CCAAGTATATGGGTATGAAAATCAAGGAATATTTATATTTAATATTATGC TCTAAGTATATATCCAAGCTGATCAATTCATAACACTTTTTCTGATGAGA TGTCAATTCTACATTCAGCTGAACTCTTATCCGAACTGTGTGGCTTCTCA ATGACAGGACATATTAAAGAACATGATGAATGTTTGTAATGCAATGATAT AAATTATTATAATGTGTTGCCTTAAAGACACATGGTGTAGCATTCTACGT TCAGCTTTTGCATTTATTTTCTCAGTGTCATGATTTGCTCCTGTGATTCC AGATCAGTTGTCTCCTTATCAGTCAGCATATACTTATTGGTATTAACACT TTTTGCAAAAATCATATATAAATGGTTGTACAATGTTGTTGTCATTCTAC AGCAACTTTTTAATTTTTGTTCAGCGATTAGCTTGTTTTTCATTTATTTT AAGATTTCAGGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTG GTAGGCCAAGGTGGGTGGATCACGAGGTCAGGAGATCCAGACCATCCTGG CTAACATGGTGAAACCTCACCTCTACTAGAAATACAAAAAATCAGCCGGG CGTGGTGGTGGGTGCCTGTAGTCCCAGCTACTCCGGAGGCTGAGGCAAGA GAATGGCGTGAACCCGCGAGGCGGAGCTTGTGGTGAGCCGATATTACATT ATTGTAACATTGAAATATGCAGGTGAATGATATATAAAAAGCCTCTGGAA GTTTACTTCTAGTTTTTGATACTTTCACGTTACGTGTTTTTTCTTTTTTA GAGACAGAGTCTCGCTCTGTCATCCAGGCTGGAGTGCAATGGCATGATCT TGGCTCACTGCCACCTCCAGCTCCTGGGTTCAAGTGATTCTGGTACCTCA GTCACCCAAGTAGCTGAGATTACAGGCATGTGCCACCATACCTGGCTGAT TTTTGTAATTTTAGTGGGGACAGTGTTTCTAAAATAGTGATTTTGGCCAG GCTGGTTTGGAACTCCTGGCCTCCAGAGATCCGCCCTCCTCAGCCTTCCA AAGTGCTGGAATTACAGGCATGAGCCACTGCACCTGGCCTGTATTGGTTT GTTGATGGGTACGCTTGGACCTTTTTGTATAAGTGGATCAGGAAATTTTA AGAGGACTAAACTAGAGAACCCTATGAATGTGAAAATACTCGTATTTCAC AGAGGTACAAAAATGAATATATTTATTAACTTTTATTCTATAGGTAGATA TGCTGCTGAATTTAGAACATTCTCTGCAATGATAAGTACGTTGTACCTTT GAACTCTCATCACAACTTTGCAATTCCTAAACTCCAGGACAAATTGAAGG ACATAATAGCTACATGTATATATTGACATAAGTGATTCTGACGTGTTTCC TTAACAATATGCCATAGCATTCTCCCATTAGCTTAGTCATTTATTCTGTT TTGGTGGGGTGTGGCATGACTTGGTCATCTTATTAAATACAACTTCTTTC CTAATACGGCCGCTTTCTCTTACTGATAGTAGGATATTTCTGCTTTAGTT ATTGTCACCTTAAATATATTTTCAATGTTGAAATCCTCACAGCATGTTTG ATGAAATCTAGTTTTCAAATTTTCTTAGGTATATTTCTGTCACGTTGGCA TGATAACAAATGCAATAACCCAAAAGACCCCAAAAGCTAGTGTAATCCCT TTTGCAATCCAAGCATGAGGATTCATCTTCATGTTGACAGTGCGTGAATG TTCGGTAGGCTTTGTCAAGCTTGCATACAATAAATTATATATGTCCCTTT TCTTTTAGGGTCTCCTGTTAAAGATGGTCTTCTGAAGGTAATAACTTTTA TATTTTTATCTTGAGTATTAACTACATATTTTATGAAGTATACATTGTAT ATTAATTGTTTTCTTTCCAAACCCATTTAGGCTAACTGCGGAATGAAAGT TTCTATTCCAACTAAAGCCTTAGAATTGATGGACATGCAAACTTTCAAAG CAGGTAAATTTTGTAATTTTAATTTTACTCTGGAAAGAAGAATATTAAAA TATTTGAAATGCTGTGAGACTTTTCATTCCCAATGTTGTTTTCTATTCAT AATTTGATGGGAAATTTCGATACAAATAATGCCAATGTGAGTATTTCTGT TTGAGAAAATGCCATTTACAAGCATAAGATTTAGAGATTTAGAAAAAAAA TTCTGCTTTACCTCATGTGGTTCTACTTTAATGTCCTGATCGGATAAAGT TTCCAATTTGCAATTTCTGTACGCGCTTGGTTTTAAGGTAGGTGAATTTT GAGACTGTGAAATATTTGCAGTGGTTCGAAGGCTGATTGGAATTCTGATG TTTACTCAGAAGAAAGTTTCACTTGCTGACATGACAGTTGTGAGTGTTAC CACTCTGAGAATCTTAAGAAAATCAGTTTTTTTTTTAATAGATGACTGTG TGTGTGTGTGACTTATAATTTTAAAAAATCAGTCAAGCAATCATTACTTG ATGACTCTTTGCTAGGCACCGCATTTTAGAAGAGTGACCCCAAAGCATTT GGCCTTGGTGTGTTTTAATGCTACTGTAATGAATTGCCTAGAGATACAAA AGAGCCTGAAGTAGTTTTTGTCATTCCCGTGAACGTTTACAACATTTTAC AACAGGCCTTGCACGGTGGCACATGCCTGGAATCCTAGCAGTTTGGGAGA CAAAGGCGGGCAGATAAGTTAAGGTCAGGAGTCCCAGACCAGCCTGGTCA AACTAGTGAAACCCCATCTCTACTAAACATAACAAAAAATAGCCGGTTGT GGTGGTGGGTGCCTGTCATCTCAGCTACTCTGGAGGCTGAGGCAGGAGAA TGGCTTGAACCTAGGACGCAGAAGTTGCATGAGCCGAGCTTGTGCCACTT TAGCCTGAGTGACAGAGTGAGACTCCATCTGAAAAGGTAAAGAAATAAAA ACACAAAACTCACAACATATGTGTGGTTATAGACTATGTGTAGAATTTGT TTTCATGTCTTATAGGCTGTGTGTAGAATTTGTTTTCATGTCTTAAATTT TCTTTTTTTTTGTTTGTATTTTTTTCTTCAGTTTTTTTGTTTGGTTTTGT TTTTGTTTTTTTGAGATCACCCAGGCTGGAGTGCCATGGCGCCATCTCGG CTCACGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCTGAGTAGCTGAGACTCCAGGTGCCTGCCACCACGCCCGGCTAATGTTT TGTATCTTTAGTAGAGACAGGGTTTCAGTGTGTTAGCCAGGATGGTCTGA TCCGGATCTCCTGACCTTGTGGTCCGCCCGTCTCGGCCTCCCAAAGTACT GGAATTACAGGCATGAGGCACCGTGCCCGGCCGATGTCTGAAATTTTCAA TAAATAGTTGTACACTGTACATATTGTCCTGGAACTTCCTTGTTTGCTTA TCGAATATTTTAGATGGACCCAATACAATTAGCTCTGCTTTGATTTAAGG CCTCATAGTTTGCCATGTTAACTCTAAAACACATTTAATTAGACTGTGTT TCCTAGCCACTAAAAGTCGACATTAAATGGCAGCTGATATCACAGAGCTT TTACTGAAGTGGGAGTATTTACTGCTTCATCCACTGTTAGAAATTAAAAT GAAAATATTTAAAATACACGAATTGGAAAAGTCCTACTTTCCAATACGCA TTACAACTGTTACTCATTAACCATGAAAATTATGACATTGTGACATGTCA TGAGTCTGAAAAATTTTAGTTTACACTTTTTAGAAAATATCAGTAAATAG GAGAAATAGGAAAAACATTATGTGAACTATTAGGCCCCCGGTGTATTTGT TGAACTTCAGAGATGCTCAGATCAGAAGCTAGAACAAGAATTTTCAAAAA TGCATAAGGTTTTAAAGTGCCAAATAACAAATGGGCTCTTGTATATGAAA TAATGTCTGAAGTTGCACCTCTGAGTCTTTTCTCTCTTTTTCTTTTTTAA AAAGATATAAATCAAACAAAATCAAAATTTTGTTTATAATGAAAAGAGTT GGTTACAGATTCATTCTGTGTCTCATGGCACTGTGCTCTCTTTTTCCCTA GAGAGGATCTAGACTTTTCATCTGTTTACATGGGAAGAAGTAGTTCAGTT TATGGTCTCATTTCTCATATAAACTGTGAAAATTCTCCACGGCTTCACAT GCTAGTTCAGAAGATATTGATGCCTTGAGAATAAAGCATCTGGTTGTAAC TCCAGCAGTTTTATATTTAAAGTATACCTAATATAATTGTCAACCACATT ACTTTAGAAAACATAAACAAAAGATAGTTACACTTATTTATTTAAAAAAT GGTGACCGGGTGCGGTGGCTCACGTCTGTAACGCCAGCACGTTGGGAGGC CGTGACTGGCAGATCACGAGGTTAGGAGATCGAGACCATCCTGACTAACA CGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGACGTGGT GGCACGCATTTCTAATAATTTCTCAGGCGATGCTGCTGCTGGTGGTCCTT GGAGCTTGGTCTGAGTAGCAAAAGGAGAGGCCTTTCATGGGAAAATAGTG GAAGAAGAGCAGTTGGATAGAAGGTCAAGACATAACAGGGTCAAGAGAAT GCATTATATTGCTTTTATTTCTGGGTATGCTTTTAGCCAGAGAAGAAGAA GAAAAAGATAAACAGAAATTATAGATTTAAGATACTATCACTAAACAAAG AGAAAGGAAATGTTGAACAAATAAATTTGAAACAGTGTTGTATGGGAAGA ATTCTACAGAGTTAGAGGTTTTTTTTTAATTTCTTTTTTTTTTTTTTTTT TTTTAGTAGAAGCATTCAAGTCAGGTAACGGGACAAACAAGAAAGAATGT AGGCAGGTAATTCTGGAGACTCTGAGAAGAACAGTTGAGTGAACTCACTT CAGATGCATGTAGATTATTTGCACTCCAGAATGTAGACTGTGGGCACTCC AGAGACTACCAGAATTGGGGGAACCACAGTGACTCATTAGGTTTCTCTGT TACAATCAGGCATGAGAAATATATATATTTTGTTGATGTTAGCTATTGAA ATGAGATATATTGGAAACTGAGAACATTGGCTTTATGTTTAAGGAAGTGT GTTGTTTTGGTAAAATTGCCATTCCACAAAAATTTATTATAGACTAATGA TACACCAAACCAGGCGAATTGTAGGATCTGAAAAAATACTGAATTTATAC TTGAATAATAAGATTGCTTTTTAAGATAAATATTGTGGTGACTTAACAAT GTAAAAAAAGTTACTTATGTTTATTTAATCTATTGCAATAAATTTTTATA TAAATATGTCAATATTGAAAGCTTAGTATAGATTATTTCCATGATGAGTT TTACACATCTTGCATGAGTGGATCGAGAAGCATTCAGATGGATAAAGTAG AGGATACAGAATCATAGGCATATGATTACACCCTATGGTTATGGAAAAAA ACGAATATTCATATTTAGTATTATGACCTAAGTGTATATCCAAGCTGATC AATTCATAACACTTCAGTGATGAGATGTCAGTTGTACATTCGGCTGAACT CTCATCATAACTATGTACCTTTCCAAAGATAGGCTATATTAAAGAACAGG ATGAATGGAATAATATAAGTGATTCTAATGTGTTTCATTAAGTACGTGGC GTAGCATTCCATGTTCAGCTTTGACATTTATTTTCTCATATCAACCCTTT TTACACGTGAAACACAATCTCGCTCTTGAAGTCTTAACTGCATGATCTGT GAAACCTGTATTTATATTTTCTTCAGTGTATTCTTGTCGTGTGTGTGTCC TAAACAAACCAAAAGAAAACTTTCCAAATCTAAAGTATTCATTCTCCAAT TGGAGCAAGAGGAGTCAGTTAGATACTATCACGGCATTCATTTGTGGCTG GCTTGTCATATTTACTTATGATTGATAATAAATCTATTTTGCTTTTTAGA GCCTCCCGAGAAGCCATCTGCCTTCGAGGTATTTAGTTTCATGATTTCAT TTTGAATGACTTATTAACTATGTATTTTGTGAAGTATACATTCTTTATTA ATCATTTTGCTTCCAACCCCATTTAGCCTGCCATTGAAATGCAAAAGTCT GTTCCAAATAAAGCCTTGGAATTGAAGAATGAACAAACATTGAGAGCAGG TAAATTTTTTAATGGAACTATGCAAAGACCAATATTTCAATATTGGACAT TTTGATGGTCCTTCTATCCCCAATGCTTTATTTTTTTCAACTTTGATGAA AAGATTTGATCTAGGTAATGCCAATACTGGTATTGATGTTTGAAAAGCTG GTATTACAAGCACAGTAATTTTCAATATCTTTTTTTAAAAATGTAGGCTT AATCTCAGATGTTTCTACTTTTGTATCCTGAAACTGTAATGTTTTCTATT TTGAACTTCTGTATTTCTTAAGGATTCAAGAAGGTGAATGTTGAAACTCC AATTTCTTTTTTTAGCTCTTCGAAGCTTGATTCAAATTCCACGGTTTACT TCGGGGATCCCATCTCTTACTGATATAACCCTTGTGTTTTAACATGAATT ACCTTGTTTCCGGTGTTGTCACTTTGAGAATCCTAAGAAAATCAGTAACT CGGACTAGTGAACTCTGTGTGTTTATGTGTGTGTGTGTCTGCGTGTGTGC CTGCGTGTGCCTGTGTGTGTGTGGTACCTTTACCTTGTAAAGATGAGGAA AGGAATTATTCATTTCTTTGTGAATATTTGATAAACACACTTTTTCATGA AACTGTGATTCTGAAGCATTTGGCTTTAGAGTCCTTTTACGCTAGTACCA TTTATTGCCTGGAAGTAACCAATATTCTAAACTGTTTTTAGAAACTCTTC TTATGCATGTTTAAACATTTTACAACATGTGTGCGTGGTCATATTTAATA TGTACGATTTTTTTCAACTTCTAATGTGTACATGGTTGTAGAGTGTAGTG TTCGGCAACATTCTTTTTTGATCAGCATTATAATTTTTAGAGACATCCGT AAAGGACACAATTAATTGTGTTTTTAAATATTAGGTTATTTATAAAATTC CATTGTATGACAGTACCATAGTTAATTGCACAATTTTTATGCCGAGAAGT AATAAATAAAACTGAAAACATGCAAATTTGGGAGTCTTTAAAAAGTTAGT TTTATCTGCTGATTTCTTAGTCATTAGAAATTAAAAGTAACATATTTAAA GTATTTCCTTGTGCAATCATACACTCCACTAAGAATTTGAACTGTGCCCC ACAGCTTCTTAGAGCTATGGTGTGGCAACACGTTAGATCTCTGAAACGAT CCAGGGTACGCTTCTAAAAATGAGTGAACATGGTGACTTACCAAAGTGTG ATTTGAGTTTCCTGGACCCTCTGCATGAAATGTGAACATGAGCTATGCTG AGATCACAAGTTAAATTTACTTTTGAAACCAGGTATACAGTTGATGGATG TCAAATGATAAACGTATGCATAGTGATGAAACGGTCTTTTAAGTTTTAGG TGTGCATGTTTGCTTTTTTCCTGAACCTGATTCAAATAGTTGTAATTTGT ACTTTGTGCTGATAAAGAAAACTGGACGTTATTTTTGGTATAAATTCTTT TTCTGTCTTATGTCCCTGAGAACTCGTCAAGTCTTGAGTGGGCCTTGATT TTATCCTATTACACGTGGGAACATTAGATTACTTAAGGCAATTATATTTT CCTATACATTTCTGATGTTTCTCCAAGGTGTCACAAGCTGACTCTGAAGA TATTGTTGCATTAGGGAAGAAGTGTGTCATTGTAAATGAAGCAGTTCTTA ATTTATACGCAATAAAAGTTTTTTAAGCTTATCTTCCTAAAGCTTATACA CACGCAAAACACACCCAATACACTGTCATAGCATACTGAAATGTAAAAGG GTTGGACATATAGTTGACTGACATCAAAAAGTTAATATTTCTAAAACATC TTATTCATTGATAAATCATCTTTTTTGAAGAACTGTGTAAGAGAGATTGC TGAGTCAATCAATGTAAGTAATACTACCAAATAAAAAGTAACAAAGAAAT GAGAGATGATAGGTAATTCCAGTTTTCTGAATGAACAGGAAACCTAGGGC ATACTGCGCTTCACAGGAGAATAGGATATGACTGCTTTGTGAAGAGATAA TTCATACAAGTTAGTTAAATTTCTATTTTTCTGCATTCTAATGAAATAAT GTTAATTTTCAGACTTTTTAGATTTCAGTTCTATTGGAATGACTATAGAA GTAGTCATTGCAATCAACAAAAAGAATATACGGGCTACAGAGGAAAAACC TCAGATTCGTGAATGAAAGTAGATTTGTATATGTTTTTAAAATTTTTAGT AGAGAACTGTGCTCATGAATGTATCTGTGATTAACCTTTTATAGATGAGA TACTCCCATCAGAATCCAAACAAAAGGACTATGAAGAAAGTTCTTGGGAT TCTGAGGTACTATGTGTTATTGATTTTTTAAATATTAGTATTGCATGATA TGAAAACATAAAATCAGATGCTTAGACTTTATGTTCTCACCTCTGCATGT GTCACCCCCAAATTATTTTTGATATTTTTCAGTATATGCTTAACGGAGAA TCTGTGTGCTAAGTAGATTCCTGCTTCACAGTGAAATTCTGGGAATTTGT ACGATTAATTTAAGAAGCCAAAGTGGTATAGTGTAAAAACTAAGGCTTAG AATTCACTAGAAATTCACATGGGATCTGGAGTACTTTTGTCTAAAAGGAA AAGAATTACACTGAGTCCAGCTATGGGCAAATATATGATTCTGTCTTATA TCTAGAGGTAGAAAAGTTCTAATTGTATTCATAGAGAGACACTTTAAACT GCAATATTGTAAAAGTTGGGACCTGAAAATTTAATGCCTGGGACTTGAAC GTATTGACATATCTTTATTGTTCAGTATAGATCTGAAGGAACATTTCAGC AGAAAGGAAAGCATGAGGAATAGGAAACCTTGTGGGAGTATAATAACAAG AGTATTGGTTGAGTAGTCTTTTGAAAAATATAAATTATATTTTCGCAAAT AGAACTCCTTGAGTCCCCTTATGGCAGTCAAGCTGAAGCAGCATGAGCGT CATATCATAGTGATGTATTTTAAGGTCACAACGGCGGAAAGACATAGAAA GTATCTGACCTCTTAGAAACAAGCAGCTGCTGCCTGGTGGTAACAGCAAA GGGTGGAAGTCAATAGGTAGATTTTATCTGATATTTTATTAGACAGAAAG ACTTTAACACTTGTTTGCTTTCATTTAGATGTGACATAATTTTTTTCTTA CTGCATTTACATTCTATTCAAACACTTTTTCTATCACCAAAAATTTTGTC AAAAACATGTTGCTTATTTTAAGCCCCTGTTTACCGAAAGAAAGCAGCTT TTTCAAATTCTGTACATACATTCTATGACAGACTCTAAAAGTTCTCTTCG TGACATGCATGATTTTTAACAGTAAACAGTTCTATGATCGTGAATATTTT AAATGTTTACTGCTGTATGTGTCCCGGCAAGTAGCAAATGTGTTGTATTT TGTTTGAAATTTCTTATTTATTTTTGATGAGGACTAGAACGTAAGTTAGA TATTTTTAAGAGAGATACTTTTTGAAATATGCACGAGTGAATTTTTTGTG AAGGTGATTTGTTTTTCCTGCTCAGTCACCGAGTTAATGGCCACGTGAAC GTAAAGATGAGCTTGATGTAGAGAGGGTTATGTGAGGTTTTCTATCAAAA TGTGTTTGTTTTCTACATGTATCTGCTCTTAAGTCGAATTGTTTGCAAAG GAGGAAATTGTGTTTTTAAAAAAGAATTTAATTAGGAAATTTTGATACTC TTCATTACTAGGATTTATCCATTGAAATTATTTATTGCTATTACTTTTAA CAGAGTCTCTGTGAGACTGTTTCACAGAAGGATGTGTGTTTACCCAAGGC TA	G G	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA18983.hp2 NA18983.hp2	a0043 a0043	a0043c0025 a0043c0025	a0043c0025t0001 a0043c0025t0001	a0043c0025t0001g0092 a0043c0025t0001g0092	1	286	0.0035	-11801	c.242 others(18): Show c.2421+1851_2512+312del		ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	25/36				INFO_REALIGN_3_PRIME	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	0	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	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	0	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	37197484	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19043.hp2 NA19043.hp2	a0031 a0031	a0031c0036 a0031c0036	a0031c0036t0001 a0031c0036t0001	a0031c0036t0001g0051 a0031c0036t0001g0051	1	286	0.0035	0	c.271 others(6): Show c.2716+4C>T		ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	29/35					chr10	TogoVar
ANKRD30A_chr10_37120598_37237567	37231448	GCAATCTT others(37): Show GCAATCTTCACAGAACTCATGAGAGACAAGCAGTAAGAAACTTCT	G G	frameshift_variant others(2): Show frameshift_variant stop_lost splice_region_variant	HIGH	HG02280.hp1 HG02280.hp1	a0000 a0000	a0000c0030 a0000c0030	a0000c0030t0009 a0000c0030t0009	a0000c0030t0009g0125 a0000c0030t0009g0125	1	286	0.0035	-44	c.418 others(55): Show c.4186-12_*23delCAATCTTCACAGAACTCATGAGAGACAAGCAGTA AGAAACTTCT	p.Asn others(6): Show p.Asn1396fs	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	35/36		4186/4194	1396/1397		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	0	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	132154766	A A	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18956.hp1 NA18956.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0002 a0006c0011t0002	a0006c0011t0002g0151 a0006c0011t0002g0151	1	406	0.0025	0	c.510 others(3): Show c.510T>G	p.Ala others(6): Show p.Ala170Ala	ANKRD30BL	ENSG00000163046.16	transcript	ENST00000409867.6	protein_coding	4/6	757/1564	510/777	170/258		chr2	TogoVar

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Search Results (Total: 10000 hits)