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
ANKRD50_chr4_124659048_124717732	124671547	T T	C C	missense_variant missense_variant	MODERATE	HG02080.hp2 HG02080.hp2	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0002 a0008c0014t0002	a0008c0014t0002g0159 a0008c0014t0002g0159	1	382	0.0026	c.173 others(4): Show c.1730A>G	p.His others(6): Show p.His577Arg	ANKRD50	ENSG00000151458.12	transcript	ENST00000504087.6	protein_coding	4/5	2768/8798	1730/4290	577/1429	chr4	TogoVar
ANKRD50_chr4_124659048_124717732	124672106	T T	C C	missense_variant missense_variant	MODERATE	HG02055.hp1 HG02055.hp1	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0017 a0009c0016t0017	a0009c0016t0017g0188 a0009c0016t0017g0188	1	382	0.0026	c.117 others(4): Show c.1171A>G	p.Ile others(6): Show p.Ile391Val	ANKRD50	ENSG00000151458.12	transcript	ENST00000504087.6	protein_coding	4/5	2209/8798	1171/4290	391/1429	chr4	TogoVar
ANKRD50_chr4_124659048_124717732	124672177	G G	A A	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0004 a0004	a0004c0017 a0004c0017	a0004c0017t0001 a0004c0017t0001	a0004c0017t0001g0094 a0004c0017t0001g0094	1	382	0.0026	c.110 others(4): Show c.1100C>T	p.Thr others(6): Show p.Thr367Met	ANKRD50	ENSG00000151458.12	transcript	ENST00000504087.6	protein_coding	4/5	2138/8798	1100/4290	367/1429	chr4	TogoVar
ANKRD50_chr4_124659048_124717732	124710106	G G	A A	missense_variant missense_variant	MODERATE	HG01074.hp2 HG02886.hp1 HG01074.hp2 HG02886.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0002 a0002c0010t0002	a0002c0010t0002g0043 a0002c0010t0002g0043	2	382	0.0052	c.406 others(3): Show c.406C>T	p.Arg others(6): Show p.Arg136Cys	ANKRD50	ENSG00000151458.12	transcript	ENST00000504087.6	protein_coding	2/5	1444/8798	406/4290	136/1429	chr4	TogoVar
ANKRD50_chr4_124659048_124717732	124710199	G G	A A	missense_variant missense_variant	MODERATE	NA19081.hp1 NA19081.hp1	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0001 a0003c0018t0001	a0003c0018t0001g0118 a0003c0018t0001g0118	1	382	0.0026	c.313 others(3): Show c.313C>T	p.Arg others(6): Show p.Arg105Cys	ANKRD50	ENSG00000151458.12	transcript	ENST00000504087.6	protein_coding	2/5	1351/8798	313/4290	105/1429	chr4	TogoVar
ANKRD52_chr12_56232807_56263384	56243191	C C	G G	missense_variant missense_variant	MODERATE	HG00642.hp1 HG01106.hp2 HG01516.hp2 others(14): Show HG00642.hp1 HG01106.hp2 HG01516.hp2 HG01517.hp2 HG02040.hp2 HG02083.hp2 HG02148.hp1 HG02273.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18953.hp2 NA18966.hp2 NA18981.hp2 NA18994.hp2 NA19064.hp1 NA19081.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0007 a0002c0003t0012 a0002c0003t0004 a0002c0003t0007 a0002c0003t0012	a0002c0003t0004g0005 a0002c0003t0004g0139 a0002c0003t0004g0142 others(8): Show a0002c0003t0004g0005 a0002c0003t0004g0139 a0002c0003t0004g0142 a0002c0003t0004g0143 a0002c0003t0004g0144 a0002c0003t0007g0027 a0002c0003t0007g0138 a0002c0003t0007g0140 a0002c0003t0007g0141 a0002c0003t0007g0145 a0002c0003t0012g0026	17	272	0.0625	c.318 others(4): Show c.3182G>C	p.Ser others(7): Show p.Ser1061Thr	ANKRD52	ENSG00000139645.11	transcript	ENST00000267116.8	protein_coding	28/28	3297/8681	3182/3231	1061/1076	chr12	TogoVar
ANKRD52_chr12_56232807_56263384	56244392	A A	T T	missense_variant missense_variant	MODERATE	NA19002.hp1 NA19002.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0092 a0006c0012t0001g0092	1	272	0.0037	c.276 others(4): Show c.2766T>A	p.Asp others(6): Show p.Asp922Glu	ANKRD52	ENSG00000139645.11	transcript	ENST00000267116.8	protein_coding	25/28	2881/8681	2766/3231	922/1076	chr12	TogoVar
ANKRD52_chr12_56232807_56263384	56244684	G G	A A	missense_variant missense_variant	MODERATE	HG02818.hp1 HG02818.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0001 a0005c0013t0001	a0005c0013t0001g0035 a0005c0013t0001g0035	1	272	0.0037	c.269 others(4): Show c.2690C>T	p.Thr others(6): Show p.Thr897Met	ANKRD52	ENSG00000139645.11	transcript	ENST00000267116.8	protein_coding	24/28	2805/8681	2690/3231	897/1076	chr12	TogoVar
ANKRD52_chr12_56232807_56263384	56244942	C C	T T	missense_variant missense_variant	MODERATE	HG02109.hp2 HG02109.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0001 a0004c0011t0001	a0004c0011t0001g0087 a0004c0011t0001g0087	1	272	0.0037	c.254 others(4): Show c.2540G>A	p.Gly others(6): Show p.Gly847Asp	ANKRD52	ENSG00000139645.11	transcript	ENST00000267116.8	protein_coding	23/28	2655/8681	2540/3231	847/1076	chr12	TogoVar
ANKRD52_chr12_56232807_56263384	56247732	C C	G G	missense_variant missense_variant	MODERATE	NA18954.hp2 NA18954.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0062 a0007c0010t0001g0062	1	272	0.0037	c.202 others(4): Show c.2021G>C	p.Ser others(6): Show p.Ser674Thr	ANKRD52	ENSG00000139645.11	transcript	ENST00000267116.8	protein_coding	19/28	2136/8681	2021/3231	674/1076	chr12	TogoVar
ANKRD52_chr12_56232807_56263384	56248815	C C	T T	missense_variant missense_variant	MODERATE	HG01168.hp2 HG01168.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0005 a0008c0009t0005	a0008c0009t0005g0129 a0008c0009t0005g0129	1	272	0.0037	c.164 others(4): Show c.1648G>A	p.Gly others(6): Show p.Gly550Ser	ANKRD52	ENSG00000139645.11	transcript	ENST00000267116.8	protein_coding	16/28	1763/8681	1648/3231	550/1076	chr12	TogoVar
ANKRD52_chr12_56232807_56263384	56248839	C C	T T	missense_variant missense_variant	MODERATE	HG01884.hp2 HG01884.hp2	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0001 a0009c0015t0001	a0009c0015t0001g0151 a0009c0015t0001g0151	1	272	0.0037	c.162 others(4): Show c.1624G>A	p.Asp others(6): Show p.Asp542Asn	ANKRD52	ENSG00000139645.11	transcript	ENST00000267116.8	protein_coding	16/28	1739/8681	1624/3231	542/1076	chr12	TogoVar
ANKRD52_chr12_56232807_56263384	56254677	G G	C C	missense_variant missense_variant	MODERATE	NA18522.hp2 NA18522.hp2	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0003 a0010c0018t0003	a0010c0018t0003g0160 a0010c0018t0003g0160	1	272	0.0037	c.594 others(3): Show c.594C>G	p.Asp others(6): Show p.Asp198Glu	ANKRD52	ENSG00000139645.11	transcript	ENST00000267116.8	protein_coding	7/28	709/8681	594/3231	198/1076	chr12	TogoVar
ANKRD52_chr12_56232807_56263384	56257833	C C	T T	missense_variant missense_variant	MODERATE	NA18941.hp2 NA18941.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0034 a0003c0007t0001g0034	1	272	0.0037	c.106 others(3): Show c.106G>A	p.Val others(5): Show p.Val36Met	ANKRD52	ENSG00000139645.11	transcript	ENST00000267116.8	protein_coding	2/28	221/8681	106/3231	36/1076	chr12	TogoVar
ANKRD53_chr2_70973630_70990499	70979137	G G	A A	missense_variant missense_variant	MODERATE	HG00621.hp2 HG00735.hp1 HG00735.hp2 others(51): Show HG00621.hp2 HG00735.hp1 HG00735.hp2 HG01074.hp1 HG01106.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01516.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01993.hp2 HG02004.hp2 HG02080.hp2 HG02145.hp1 HG02148.hp1 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02451.hp2 HG02717.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03669.hp1 HG03831.hp2 HG03927.hp2 HG06807.hp1 NA18522.hp1 NA18963.hp1 NA18966.hp2 NA19009.hp2 NA19011.hp1 NA19030.hp1 NA19054.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20905.hp2	a0003 a0004 a0008 others(2): Show a0003 a0004 a0008 a0012 a0023	a0003c0004 a0003c0008 a0003c0015 others(5): Show a0003c0004 a0003c0008 a0003c0015 a0004c0005 a0004c0033 a0008c0010 a0012c0017 a0023c0032	a0003c0004t0002 a0003c0008t0002 a0003c0015t0001 others(6): Show a0003c0004t0002 a0003c0008t0002 a0003c0015t0001 a0003c0015t0002 a0004c0005t0001 a0004c0033t0001 a0008c0010t0001 a0012c0017t0001 a0023c0032t0002	a0003c0004t0002g0004 a0003c0004t0002g0051 a0003c0004t0002g0053 others(13): Show a0003c0004t0002g0004 a0003c0004t0002g0051 a0003c0004t0002g0053 a0003c0008t0002g0012 a0003c0008t0002g0055 a0003c0015t0001g0004 a0003c0015t0001g0052 a0003c0015t0002g0049 a0004c0005t0001g0006 a0004c0033t0001g0006 a0008c0010t0001g0018 a0008c0010t0001g0045 a0008c0010t0001g0050 a0012c0017t0001g0026 a0012c0017t0001g0048 a0023c0032t0002g0047	54	450	0.1200	c.211 others(3): Show c.211G>A	p.Ala others(5): Show p.Ala71Thr	ANKRD53	ENSG00000144031.12	transcript	ENST00000360589.4	protein_coding	2/6	227/1808	211/1593	71/530	chr2	TogoVar
ANKRD53_chr2_70973630_70990499	70979159	G G	A A	missense_variant missense_variant	MODERATE	HG03225.hp2 HG03225.hp2	a0023 a0023	a0023c0032 a0023c0032	a0023c0032t0002 a0023c0032t0002	a0023c0032t0002g0047 a0023c0032t0002g0047	1	450	0.0022	c.233 others(3): Show c.233G>A	p.Arg others(5): Show p.Arg78His	ANKRD53	ENSG00000144031.12	transcript	ENST00000360589.4	protein_coding	2/6	249/1808	233/1593	78/530	chr2	TogoVar
ANKRD53_chr2_70973630_70990499	70979240	C C	G G	missense_variant missense_variant	MODERATE	HG00621.hp2 HG01175.hp2 HG01891.hp1 others(13): Show HG00621.hp2 HG01175.hp2 HG01891.hp1 HG01952.hp2 HG02004.hp2 HG02080.hp2 HG02280.hp1 HG02970.hp1 HG03195.hp1 HG03225.hp2 NA18963.hp1 NA18966.hp2 NA19009.hp2 NA19011.hp1 NA19054.hp1 NA19240.hp2	a0004 a0012 a0023 a0004 a0012 a0023	a0004c0005 a0004c0033 a0012c0017 others(1): Show a0004c0005 a0004c0033 a0012c0017 a0023c0032	a0004c0005t0001 a0004c0033t0001 a0012c0017t0001 others(1): Show a0004c0005t0001 a0004c0033t0001 a0012c0017t0001 a0023c0032t0002	a0004c0005t0001g0006 a0004c0033t0001g0006 a0012c0017t0001g0026 others(2): Show a0004c0005t0001g0006 a0004c0033t0001g0006 a0012c0017t0001g0026 a0012c0017t0001g0048 a0023c0032t0002g0047	16	450	0.0356	c.314 others(3): Show c.314C>G	p.Ala others(6): Show p.Ala105Gly	ANKRD53	ENSG00000144031.12	transcript	ENST00000360589.4	protein_coding	2/6	330/1808	314/1593	105/530	chr2	TogoVar
ANKRD53_chr2_70973630_70990499	70982046	T T	C C	missense_variant missense_variant	MODERATE	HG01099.hp1 HG02109.hp1 HG02486.hp2 others(6): Show HG01099.hp1 HG02109.hp1 HG02486.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03130.hp1 HG03139.hp2 NA18906.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0009 a0005c0007t0002g0060 a0005c0007t0002g0009 a0005c0007t0002g0060	9	450	0.0200	c.728 others(3): Show c.728T>C	p.Met others(6): Show p.Met243Thr	ANKRD53	ENSG00000144031.12	transcript	ENST00000360589.4	protein_coding	4/6	744/1808	728/1593	243/530	chr2	TogoVar
ANKRD53_chr2_70973630_70990499	70982088	G G	A A	missense_variant missense_variant	MODERATE	NA18939.hp2 NA18965.hp2 NA18972.hp2 others(1): Show NA18939.hp2 NA18965.hp2 NA18972.hp2 NA18979.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0003 a0009c0012t0003	a0009c0012t0003g0002 a0009c0012t0003g0002	4	450	0.0089	c.770 others(3): Show c.770G>A	p.Arg others(6): Show p.Arg257His	ANKRD53	ENSG00000144031.12	transcript	ENST00000360589.4	protein_coding	4/6	786/1808	770/1593	257/530	chr2	TogoVar
ANKRD53_chr2_70973630_70990499	70982665	C C	T T	missense_variant missense_variant	MODERATE	HG01175.hp1 HG01175.hp1	a0016 a0016	a0016c0031 a0016c0031	a0016c0031t0001 a0016c0031t0001	a0016c0031t0001g0001 a0016c0031t0001g0001	1	450	0.0022	c.871 others(3): Show c.871C>T	p.Leu others(6): Show p.Leu291Phe	ANKRD53	ENSG00000144031.12	transcript	ENST00000360589.4	protein_coding	5/6	887/1808	871/1593	291/530	chr2	TogoVar
ANKRD53_chr2_70973630_70990499	70982668	A A	G G	missense_variant missense_variant	MODERATE	NA19004.hp2 NA19004.hp2	a0022 a0022	a0022c0030 a0022c0030	a0022c0030t0001 a0022c0030t0001	a0022c0030t0001g0001 a0022c0030t0001g0001	1	450	0.0022	c.874 others(3): Show c.874A>G	p.Met others(6): Show p.Met292Val	ANKRD53	ENSG00000144031.12	transcript	ENST00000360589.4	protein_coding	5/6	890/1808	874/1593	292/530	chr2	TogoVar
ANKRD53_chr2_70973630_70990499	70984740	C C	T T	missense_variant missense_variant	MODERATE	HG04115.hp1 HG04115.hp1	a0021 a0021	a0021c0027 a0021c0027	a0021c0027t0003 a0021c0027t0003	a0021c0027t0003g0002 a0021c0027t0003g0002	1	450	0.0022	c.103 others(4): Show c.1033C>T	p.Arg others(6): Show p.Arg345Trp	ANKRD53	ENSG00000144031.12	transcript	ENST00000360589.4	protein_coding	6/6	1049/1808	1033/1593	345/530	chr2	TogoVar
ANKRD53_chr2_70973630_70990499	70984753	G G	T T	missense_variant missense_variant	MODERATE	HG00280.hp2 HG01168.hp1 HG01169.hp2 others(2): Show HG00280.hp2 HG01168.hp1 HG01169.hp2 HG01515.hp1 HG01517.hp2	a0011 a0014 a0011 a0014	a0011c0016 a0014c0020 a0011c0016 a0014c0020	a0011c0016t0001 a0014c0020t0001 a0011c0016t0001 a0014c0020t0001	a0011c0016t0001g0015 a0011c0016t0001g0041 a0014c0020t0001g0015 a0011c0016t0001g0015 a0011c0016t0001g0041 a0014c0020t0001g0015	5	450	0.0111	c.104 others(4): Show c.1046G>T	p.Arg others(6): Show p.Arg349Leu	ANKRD53	ENSG00000144031.12	transcript	ENST00000360589.4	protein_coding	6/6	1062/1808	1046/1593	349/530	chr2	TogoVar
ANKRD53_chr2_70973630_70990499	70984866	A A	T T	missense_variant missense_variant	MODERATE	NA18994.hp1 NA19077.hp2 NA18994.hp1 NA19077.hp2	a0015 a0015	a0015c0019 a0015c0019	a0015c0019t0001 a0015c0019t0001	a0015c0019t0001g0001 a0015c0019t0001g0017 a0015c0019t0001g0001 a0015c0019t0001g0017	2	450	0.0044	c.115 others(4): Show c.1159A>T	p.Asn others(6): Show p.Asn387Tyr	ANKRD53	ENSG00000144031.12	transcript	ENST00000360589.4	protein_coding	6/6	1175/1808	1159/1593	387/530	chr2	TogoVar
ANKRD53_chr2_70973630_70990499	70984999	A A	T T	missense_variant missense_variant	MODERATE	HG00408.hp2 HG00558.hp1 HG00609.hp1 others(50): Show HG00408.hp2 HG00558.hp1 HG00609.hp1 HG00673.hp1 HG01081.hp2 HG01123.hp1 HG01167.hp2 HG01243.hp1 HG01256.hp2 HG01258.hp1 HG01516.hp1 HG01517.hp1 HG01928.hp2 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02129.hp1 HG02258.hp1 HG02280.hp2 HG02738.hp1 HG02818.hp1 HG02976.hp1 HG03130.hp2 HG03490.hp2 HG03492.hp1 HG03710.hp2 HG04199.hp2 NA18522.hp2 NA18947.hp1 NA18959.hp2 NA18961.hp2 NA18963.hp1 NA18966.hp2 NA18970.hp2 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp2 NA18997.hp1 NA19002.hp1 NA19009.hp2 NA19010.hp2 NA19056.hp1 NA19056.hp2 NA19064.hp2 NA19065.hp1 NA19074.hp2 NA19078.hp1 NA19080.hp2 NA19081.hp2 NA19083.hp1 NA20300.hp1 NA20805.hp1	a0002 a0012 a0020 a0002 a0012 a0020	a0002c0003 a0012c0017 a0020c0023 a0002c0003 a0012c0017 a0020c0023	a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 others(2): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0012c0017t0001 a0020c0023t0001	a0002c0003t0001g0003 a0002c0003t0001g0007 a0002c0003t0001g0008 others(10): Show a0002c0003t0001g0003 a0002c0003t0001g0007 a0002c0003t0001g0008 a0002c0003t0001g0061 a0002c0003t0001g0062 a0002c0003t0001g0063 a0002c0003t0001g0064 a0002c0003t0001g0065 a0002c0003t0002g0007 a0002c0003t0005g0008 a0012c0017t0001g0026 a0012c0017t0001g0048 a0020c0023t0001g0066	53	450	0.1178	c.129 others(4): Show c.1292A>T	p.His others(6): Show p.His431Leu	ANKRD53	ENSG00000144031.12	transcript	ENST00000360589.4	protein_coding	6/6	1308/1808	1292/1593	431/530	chr2	TogoVar
ANKRD53_chr2_70973630_70990499	70985046	G G	T T	missense_variant missense_variant	MODERATE	NA18961.hp2 NA18961.hp2	a0020 a0020	a0020c0023 a0020c0023	a0020c0023t0001 a0020c0023t0001	a0020c0023t0001g0066 a0020c0023t0001g0066	1	450	0.0022	c.133 others(4): Show c.1339G>T	p.Val others(6): Show p.Val447Leu	ANKRD53	ENSG00000144031.12	transcript	ENST00000360589.4	protein_coding	6/6	1355/1808	1339/1593	447/530	chr2	TogoVar
ANKRD53_chr2_70973630_70990499	70985163	C C	T T	missense_variant missense_variant	MODERATE	HG01167.hp1 HG01169.hp1 HG02895.hp2 others(3): Show HG01167.hp1 HG01169.hp1 HG02895.hp2 HG02897.hp2 HG03209.hp1 NA20129.hp1	a0008 a0019 a0008 a0019	a0008c0010 a0019c0026 a0008c0010 a0019c0026	a0008c0010t0001 a0019c0026t0001 a0008c0010t0001 a0019c0026t0001	a0008c0010t0001g0018 a0008c0010t0001g0045 a0008c0010t0001g0050 others(1): Show a0008c0010t0001g0018 a0008c0010t0001g0045 a0008c0010t0001g0050 a0019c0026t0001g0002	6	450	0.0133	c.145 others(4): Show c.1456C>T	p.Arg others(6): Show p.Arg486Trp	ANKRD53	ENSG00000144031.12	transcript	ENST00000360589.4	protein_coding	6/6	1472/1808	1456/1593	486/530	chr2	TogoVar
ANKRD53_chr2_70973630_70990499	70985175	G G	A A	missense_variant missense_variant	MODERATE	NA18983.hp2 NA18983.hp2	a0018 a0018	a0018c0024 a0018c0024	a0018c0024t0001 a0018c0024t0001	a0018c0024t0001g0029 a0018c0024t0001g0029	1	450	0.0022	c.146 others(4): Show c.1468G>A	p.Asp others(6): Show p.Asp490Asn	ANKRD53	ENSG00000144031.12	transcript	ENST00000360589.4	protein_coding	6/6	1484/1808	1468/1593	490/530	chr2	TogoVar
ANKRD53_chr2_70973630_70990499	70985206	T T	C C	missense_variant missense_variant	MODERATE	HG00280.hp2 HG01168.hp1 HG01169.hp2 HG00280.hp2 HG01168.hp1 HG01169.hp2	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0001 a0011c0016t0001	a0011c0016t0001g0015 a0011c0016t0001g0041 a0011c0016t0001g0015 a0011c0016t0001g0041	3	450	0.0067	c.149 others(4): Show c.1499T>C	p.Met others(6): Show p.Met500Thr	ANKRD53	ENSG00000144031.12	transcript	ENST00000360589.4	protein_coding	6/6	1515/1808	1499/1593	500/530	chr2	TogoVar
ANKRD53_chr2_70973630_70990499	70985229	G G	A A	missense_variant missense_variant	MODERATE	HG03516.hp2 HG03516.hp2	a0017 a0017	a0017c0025 a0017c0025	a0017c0025t0001 a0017c0025t0001	a0017c0025t0001g0030 a0017c0025t0001g0030	1	450	0.0022	c.152 others(4): Show c.1522G>A	p.Glu others(6): Show p.Glu508Lys	ANKRD53	ENSG00000144031.12	transcript	ENST00000360589.4	protein_coding	6/6	1538/1808	1522/1593	508/530	chr2	TogoVar
ANKRD53_chr2_70973630_70990499	70985251	G G	A A	missense_variant missense_variant	MODERATE	HG00673.hp2 HG02071.hp2 NA18939.hp1 others(2): Show HG00673.hp2 HG02071.hp2 NA18939.hp1 NA18945.hp1 NA19074.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0001 a0007c0011t0001g0017 a0007c0011t0001g0001 a0007c0011t0001g0017	5	450	0.0111	c.154 others(4): Show c.1544G>A	p.Arg others(6): Show p.Arg515Gln	ANKRD53	ENSG00000144031.12	transcript	ENST00000360589.4	protein_coding	6/6	1560/1808	1544/1593	515/530	chr2	TogoVar
ANKRD53_chr2_70973630_70990499	70985275	T T	C C	missense_variant missense_variant	MODERATE	HG00408.hp2 HG00558.hp1 HG00609.hp1 others(54): Show HG00408.hp2 HG00558.hp1 HG00609.hp1 HG00673.hp1 HG01081.hp2 HG01123.hp1 HG01167.hp2 HG01243.hp1 HG01256.hp2 HG01258.hp1 HG01516.hp1 HG01517.hp1 HG01928.hp2 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02129.hp1 HG02258.hp1 HG02280.hp2 HG02622.hp2 HG02630.hp2 HG02738.hp1 HG02818.hp1 HG02976.hp1 HG03098.hp1 HG03130.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03710.hp2 HG04199.hp2 NA18522.hp2 NA18947.hp1 NA18959.hp2 NA18961.hp2 NA18963.hp1 NA18966.hp2 NA18970.hp2 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp2 NA18997.hp1 NA19002.hp1 NA19009.hp2 NA19010.hp2 NA19056.hp1 NA19056.hp2 NA19064.hp2 NA19065.hp1 NA19074.hp2 NA19078.hp1 NA19080.hp2 NA19081.hp2 NA19083.hp1 NA20300.hp1 NA20805.hp1	a0002 a0010 a0012 others(1): Show a0002 a0010 a0012 a0020	a0002c0003 a0010c0013 a0012c0017 others(1): Show a0002c0003 a0010c0013 a0012c0017 a0020c0023	a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 others(3): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0010c0013t0001 a0012c0017t0001 a0020c0023t0001	a0002c0003t0001g0003 a0002c0003t0001g0007 a0002c0003t0001g0008 others(11): Show a0002c0003t0001g0003 a0002c0003t0001g0007 a0002c0003t0001g0008 a0002c0003t0001g0061 a0002c0003t0001g0062 a0002c0003t0001g0063 a0002c0003t0001g0064 a0002c0003t0001g0065 a0002c0003t0002g0007 a0002c0003t0005g0008 a0010c0013t0001g0016 a0012c0017t0001g0026 a0012c0017t0001g0048 a0020c0023t0001g0066	57	450	0.1267	c.156 others(4): Show c.1568T>C	p.Leu others(6): Show p.Leu523Pro	ANKRD53	ENSG00000144031.12	transcript	ENST00000360589.4	protein_coding	6/6	1584/1808	1568/1593	523/530	chr2	TogoVar
ANKRD54_chr22_37825855_37849334	37833076	C C	T T	missense_variant missense_variant	MODERATE	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0182 a0002c0006t0001g0182	1	384	0.0026	c.602 others(3): Show c.602G>A	p.Arg others(6): Show p.Arg201His	ANKRD54	ENSG00000100124.15	transcript	ENST00000215941.9	protein_coding	6/8	698/2087	602/903	201/300	chr22	TogoVar
ANKRD54_chr22_37825855_37849334	37844226	C C	G G	missense_variant missense_variant	MODERATE	NA19062.hp2 NA19062.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0047 a0003c0004t0001g0047	1	384	0.0026	c.13G others(2): Show c.13G>C	p.Ala others(4): Show p.Ala5Pro	ANKRD54	ENSG00000100124.15	transcript	ENST00000215941.9	protein_coding	1/8	109/2087	13/903	5/300	chr22	TogoVar
ANKRD55_chr5_56094680_56238330	56100247	C C	T T	missense_variant missense_variant	MODERATE	HG01515.hp2 NA18986.hp2 HG01515.hp2 NA18986.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0004 a0005c0006t0001 a0005c0006t0004	a0005c0006t0001g0170 a0005c0006t0004g0264 a0005c0006t0001g0170 a0005c0006t0004g0264	2	308	0.0065	c.178 others(4): Show c.1781G>A	p.Arg others(6): Show p.Arg594Gln	ANKRD55	ENSG00000164512.18	transcript	ENST00000341048.9	protein_coding	12/12	1904/2471	1781/1845	594/614	chr5	TogoVar
ANKRD55_chr5_56094680_56238330	56111696	C C	A A	missense_variant missense_variant	MODERATE	HG03486.hp2 HG03486.hp2	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0013 a0008c0015t0013	a0008c0015t0013g0296 a0008c0015t0013g0296	1	308	0.0033	c.105 others(4): Show c.1052G>T	p.Cys others(6): Show p.Cys351Phe	ANKRD55	ENSG00000164512.18	transcript	ENST00000341048.9	protein_coding	10/12	1175/2471	1052/1845	351/614	chr5	TogoVar
ANKRD55_chr5_56094680_56238330	56111715	C C	T T	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(81): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00673.hp2 HG00735.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01255.hp2 HG01358.hp1 HG01515.hp1 HG01516.hp1 HG02027.hp1 HG02074.hp2 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02280.hp1 HG02602.hp1 HG02602.hp2 HG02735.hp1 HG02738.hp2 HG02895.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03490.hp2 HG03491.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp2 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18939.hp1 NA18941.hp1 NA18942.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp2 NA18952.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18972.hp1 NA18983.hp1 NA18984.hp1 NA18991.hp2 NA18992.hp1 NA19000.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19063.hp2 NA19065.hp1 NA19072.hp1 NA19077.hp1 NA19077.hp2 NA19083.hp2 NA19084.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp1	a0002 a0004 a0010 a0002 a0004 a0010	a0002c0002 a0002c0005 a0002c0017 others(2): Show a0002c0002 a0002c0005 a0002c0017 a0004c0007 a0010c0009	a0002c0002t0001 a0002c0002t0003 a0002c0002t0007 others(4): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0007 a0002c0005t0001 a0002c0017t0001 a0004c0007t0001 a0010c0009t0001	a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0008 others(81): Show a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0019 a0002c0002t0001g0027 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0052 a0002c0002t0001g0054 a0002c0002t0001g0057 a0002c0002t0001g0059 a0002c0002t0001g0062 a0002c0002t0001g0075 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0080 a0002c0002t0001g0087 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0109 a0002c0002t0001g0113 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0121 a0002c0002t0001g0127 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0142 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0156 a0002c0002t0001g0158 a0002c0002t0001g0166 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0178 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0185 a0002c0002t0001g0188 a0002c0002t0001g0190 a0002c0002t0001g0194 a0002c0002t0001g0202 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0212 a0002c0002t0001g0225 a0002c0002t0001g0230 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0245 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0272 a0002c0002t0001g0281 a0002c0002t0003g0283 a0002c0002t0003g0284 a0002c0002t0003g0290 a0002c0002t0007g0119 a0002c0002t0007g0123 a0002c0002t0007g0254 a0002c0005t0001g0002 a0002c0005t0001g0006 a0002c0005t0001g0066 a0002c0005t0001g0157 a0002c0005t0001g0191 a0002c0005t0001g0193 a0002c0017t0001g0223 a0004c0007t0001g0195 a0004c0007t0001g0196 a0010c0009t0001g0204	84	308	0.2727	c.103 others(4): Show c.1033G>A	p.Val others(6): Show p.Val345Met	ANKRD55	ENSG00000164512.18	transcript	ENST00000341048.9	protein_coding	10/12	1156/2471	1033/1845	345/614	chr5	TogoVar
ANKRD55_chr5_56094680_56238330	56116649	T T	C C	missense_variant missense_variant	MODERATE	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0195 a0004c0007t0001g0196 a0004c0007t0001g0195 a0004c0007t0001g0196	2	308	0.0065	c.931 others(3): Show c.931A>G	p.Thr others(6): Show p.Thr311Ala	ANKRD55	ENSG00000164512.18	transcript	ENST00000341048.9	protein_coding	9/12	1054/2471	931/1845	311/614	chr5	TogoVar
ANKRD55_chr5_56094680_56238330	56116766	C C	T T	missense_variant missense_variant	MODERATE	HG02300.hp1 HG02300.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0003 a0009c0013t0003	a0009c0013t0003g0287 a0009c0013t0003g0287	1	308	0.0033	c.814 others(3): Show c.814G>A	p.Ala others(6): Show p.Ala272Thr	ANKRD55	ENSG00000164512.18	transcript	ENST00000341048.9	protein_coding	9/12	937/2471	814/1845	272/614	chr5	TogoVar
ANKRD55_chr5_56094680_56238330	56127050	T T	C C	missense_variant missense_variant	MODERATE	HG02145.hp1 HG02809.hp1 HG03139.hp2 HG02145.hp1 HG02809.hp1 HG03139.hp2	a0003 a0003	a0003c0008 a0003c0019 a0003c0008 a0003c0019	a0003c0008t0001 a0003c0019t0002 a0003c0008t0001 a0003c0019t0002	a0003c0008t0001g0088 a0003c0008t0001g0249 a0003c0019t0002g0104 a0003c0008t0001g0088 a0003c0008t0001g0249 a0003c0019t0002g0104	3	308	0.0097	c.669 others(3): Show c.669A>G	p.Ile others(6): Show p.Ile223Met	ANKRD55	ENSG00000164512.18	transcript	ENST00000341048.9	protein_coding	8/12	792/2471	669/1845	223/614	chr5	TogoVar
ANKRD55_chr5_56094680_56238330	56159892	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00642.hp2 HG00642.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0192 a0007c0011t0001g0192	1	308	0.0033	c.424 others(3): Show c.424C>A	p.Leu others(6): Show p.Leu142Ile	ANKRD55	ENSG00000164512.18	transcript	ENST00000341048.9	protein_coding	6/12	547/2471	424/1845	142/614	chr5	TogoVar
ANKRD55_chr5_56094680_56238330	56170781	C C	T T	missense_variant missense_variant	MODERATE	HG01109.hp1 HG01109.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0089 a0006c0010t0001g0089	1	308	0.0033	c.335 others(3): Show c.335G>A	p.Ser others(6): Show p.Ser112Asn	ANKRD55	ENSG00000164512.18	transcript	ENST00000341048.9	protein_coding	5/12	458/2471	335/1845	112/614	chr5	TogoVar
ANKRD55_chr5_56094680_56238330	56183578	C C	G G	missense_variant missense_variant	MODERATE	NA19002.hp2 NA19002.hp2	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0001 a0010c0009t0001	a0010c0009t0001g0204 a0010c0009t0001g0204	1	308	0.0033	c.115 others(3): Show c.115G>C	p.Asp others(5): Show p.Asp39His	ANKRD55	ENSG00000164512.18	transcript	ENST00000341048.9	protein_coding	3/12	238/2471	115/1845	39/614	chr5	TogoVar
ANKRD60_chr20_58211126_58233653	58218604	C C	T T	missense_variant missense_variant	MODERATE	NA18981.hp1 NA19000.hp2 NA18981.hp1 NA19000.hp2	a0012 a0018 a0012 a0018	a0012c0021 a0018c0016 a0012c0021 a0018c0016	a0012c0021t0001 a0018c0016t0001 a0012c0021t0001 a0018c0016t0001	a0012c0021t0001g0133 a0018c0016t0001g0073 a0012c0021t0001g0133 a0018c0016t0001g0073	2	458	0.0044	c.929 others(3): Show c.929G>A	p.Arg others(6): Show p.Arg310Gln	ANKRD60	ENSG00000124227.6	transcript	ENST00000457363.2	protein_coding	4/4	929/3407	929/1038	310/345	chr20	TogoVar
ANKRD60_chr20_58211126_58233653	58218650	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(275): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02148.hp2 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02615.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19075.hp1 NA19076.hp1 NA19077.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 others(7): Show a0001 a0002 a0007 a0008 a0012 a0013 a0015 a0016 a0018 a0019	a0001c0001 a0001c0004 a0001c0008 others(11): Show a0001c0001 a0001c0004 a0001c0008 a0002c0002 a0002c0012 a0002c0017 a0007c0011 a0008c0014 a0012c0021 a0013c0019 a0015c0018 a0016c0022 a0018c0016 a0019c0015	a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 others(19): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 a0001c0001t0015 a0001c0004t0001 a0001c0004t0002 a0001c0004t0005 a0001c0004t0014 a0001c0008t0001 a0002c0002t0001 a0002c0002t0013 a0002c0012t0001 a0002c0012t0012 a0002c0017t0001 a0007c0011t0001 a0008c0014t0001 a0012c0021t0001 a0013c0019t0001 a0015c0018t0001 a0016c0022t0005 a0018c0016t0001 a0019c0015t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(98): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0005g0038 a0001c0001t0005g0106 a0001c0001t0005g0107 a0001c0001t0005g0108 a0001c0001t0011g0111 a0001c0001t0015g0097 a0001c0004t0001g0004 a0001c0004t0001g0012 a0001c0004t0001g0015 a0001c0004t0001g0019 a0001c0004t0001g0026 a0001c0004t0001g0027 a0001c0004t0001g0029 a0001c0004t0001g0046 a0001c0004t0001g0049 a0001c0004t0001g0054 a0001c0004t0001g0055 a0001c0004t0001g0056 a0001c0004t0001g0134 a0001c0004t0001g0135 a0001c0004t0001g0141 a0001c0004t0001g0142 a0001c0004t0001g0150 a0001c0004t0001g0154 a0001c0004t0001g0164 a0001c0004t0001g0171 a0001c0004t0001g0172 a0001c0004t0001g0181 a0001c0004t0001g0183 a0001c0004t0001g0184 a0001c0004t0001g0186 a0001c0004t0001g0187 a0001c0004t0001g0188 a0001c0004t0001g0191 a0001c0004t0002g0158 a0001c0004t0005g0050 a0001c0004t0005g0155 a0001c0004t0005g0156 a0001c0004t0014g0159 a0001c0008t0001g0024 a0001c0008t0001g0045 a0001c0008t0001g0123 a0002c0002t0001g0001 a0002c0002t0001g0016 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0036 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0072 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0013g0071 a0002c0012t0001g0094 a0002c0012t0012g0093 a0002c0017t0001g0079 a0007c0011t0001g0020 a0008c0014t0001g0057 a0012c0021t0001g0133 a0013c0019t0001g0112 a0015c0018t0001g0102 a0016c0022t0005g0192 a0018c0016t0001g0073 a0019c0015t0001g0058	278	458	0.6070	c.883 others(3): Show c.883C>T	p.Arg others(6): Show p.Arg295Cys	ANKRD60	ENSG00000124227.6	transcript	ENST00000457363.2	protein_coding	4/4	883/3407	883/1038	295/345	chr20	TogoVar
ANKRD60_chr20_58211126_58233653	58218658	A A	G G	missense_variant missense_variant	MODERATE	HG03486.hp2 HG03486.hp2	a0009 a0009	a0009c0024 a0009c0024	a0009c0024t0009 a0009c0024t0009	a0009c0024t0009g0194 a0009c0024t0009g0194	1	458	0.0022	c.875 others(3): Show c.875T>C	p.Ile others(6): Show p.Ile292Thr	ANKRD60	ENSG00000124227.6	transcript	ENST00000457363.2	protein_coding	4/4	875/3407	875/1038	292/345	chr20	TogoVar
ANKRD60_chr20_58211126_58233653	58218710	G G	A A	missense_variant missense_variant	MODERATE	NA19081.hp2 NA19081.hp2	a0013 a0013	a0013c0019 a0013c0019	a0013c0019t0001 a0013c0019t0001	a0013c0019t0001g0112 a0013c0019t0001g0112	1	458	0.0022	c.823 others(3): Show c.823C>T	p.His others(6): Show p.His275Tyr	ANKRD60	ENSG00000124227.6	transcript	ENST00000457363.2	protein_coding	4/4	823/3407	823/1038	275/345	chr20	TogoVar
ANKRD60_chr20_58211126_58233653	58221338	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02451.hp2 HG02451.hp2	a0014 a0014	a0014c0020 a0014c0020	a0014c0020t0007 a0014c0020t0007	a0014c0020t0007g0149 a0014c0020t0007g0149	1	458	0.0022	c.727 others(3): Show c.727G>A	p.Gly others(6): Show p.Gly243Arg	ANKRD60	ENSG00000124227.6	transcript	ENST00000457363.2	protein_coding	3/4	727/3407	727/1038	243/345	chr20	TogoVar
ANKRD60_chr20_58211126_58233653	58221472	A A	T T	missense_variant missense_variant	MODERATE	HG00558.hp2 HG00609.hp1 HG00621.hp1 others(84): Show HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00673.hp2 HG00738.hp1 HG01109.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01884.hp1 HG01891.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02258.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03195.hp2 HG03453.hp1 HG03471.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG04184.hp1 NA18612.hp1 NA18906.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18948.hp1 NA18951.hp1 NA18955.hp2 NA18956.hp1 NA18963.hp2 NA18964.hp2 NA18967.hp1 NA18968.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18982.hp2 NA18983.hp2 NA18987.hp1 NA18993.hp1 NA18997.hp1 NA18999.hp1 NA19003.hp2 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp2 NA19068.hp2 NA19074.hp2 NA19076.hp2 NA19078.hp1 NA19079.hp2 NA19084.hp2 NA19085.hp1 NA19088.hp1 NA19090.hp2 NA20300.hp2 NA21309.hp2	a0003 a0006 a0010 others(2): Show a0003 a0006 a0010 a0011 a0015	a0003c0003 a0003c0010 a0006c0009 others(3): Show a0003c0003 a0003c0010 a0006c0009 a0010c0013 a0011c0023 a0015c0018	a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 others(12): Show a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 a0003c0003t0006 a0003c0003t0008 a0003c0003t0010 a0003c0003t0019 a0003c0003t0020 a0003c0010t0002 a0003c0010t0004 a0006c0009t0002 a0010c0013t0002 a0010c0013t0017 a0011c0023t0002 a0015c0018t0001	a0003c0003t0002g0005 a0003c0003t0002g0006 a0003c0003t0002g0013 others(44): Show a0003c0003t0002g0005 a0003c0003t0002g0006 a0003c0003t0002g0013 a0003c0003t0002g0048 a0003c0003t0002g0051 a0003c0003t0002g0124 a0003c0003t0002g0127 a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0136 a0003c0003t0002g0137 a0003c0003t0002g0143 a0003c0003t0002g0145 a0003c0003t0002g0147 a0003c0003t0002g0148 a0003c0003t0002g0162 a0003c0003t0002g0180 a0003c0003t0002g0182 a0003c0003t0003g0010 a0003c0003t0003g0163 a0003c0003t0003g0165 a0003c0003t0003g0169 a0003c0003t0003g0176 a0003c0003t0003g0189 a0003c0003t0004g0131 a0003c0003t0006g0014 a0003c0003t0006g0144 a0003c0003t0008g0166 a0003c0003t0008g0167 a0003c0003t0008g0168 a0003c0003t0010g0139 a0003c0003t0010g0170 a0003c0003t0019g0128 a0003c0003t0020g0146 a0003c0010t0002g0099 a0003c0010t0002g0100 a0003c0010t0002g0101 a0003c0010t0004g0119 a0006c0009t0002g0059 a0006c0009t0002g0064 a0006c0009t0002g0068 a0006c0009t0002g0069 a0006c0009t0002g0070 a0010c0013t0002g0197 a0010c0013t0017g0196 a0011c0023t0002g0193 a0015c0018t0001g0102	87	458	0.1900	c.593 others(3): Show c.593T>A	p.Phe others(6): Show p.Phe198Tyr	ANKRD60	ENSG00000124227.6	transcript	ENST00000457363.2	protein_coding	3/4	593/3407	593/1038	198/345	chr20	TogoVar
ANKRD60_chr20_58211126_58233653	58223134	C C	T T	missense_variant missense_variant	MODERATE	HG03486.hp2 NA19240.hp1 HG03486.hp2 NA19240.hp1	a0009 a0009	a0009c0024 a0009c0025 a0009c0024 a0009c0025	a0009c0024t0009 a0009c0025t0009 a0009c0024t0009 a0009c0025t0009	a0009c0024t0009g0194 a0009c0025t0009g0195 a0009c0024t0009g0194 a0009c0025t0009g0195	2	458	0.0044	c.479 others(3): Show c.479G>A	p.Gly others(6): Show p.Gly160Glu	ANKRD60	ENSG00000124227.6	transcript	ENST00000457363.2	protein_coding	2/4	479/3407	479/1038	160/345	chr20	TogoVar

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