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
AKAP13_chr15_85375603_85754355	85741301	C C	T T	missense_variant missense_variant	MODERATE	NA20752.hp2 NA20752.hp2	a0038 a0038	a0038c0044 a0038c0044	a0038c0044t0004 a0038c0044t0004	a0038c0044t0004g0301 a0038c0044t0004g0301	1	314	0.0032	c.786 others(4): Show c.7864C>T	p.Arg others(7): Show p.Arg2622Cys	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	35/37	8071/13327	7864/8442	2622/2813	chr15	TogoVar
AKAP13_chr15_85375603_85754355	85741469	C C	T T	missense_variant missense_variant	MODERATE	HG01255.hp1 HG02451.hp2 HG02922.hp1 others(1): Show HG01255.hp1 HG02451.hp2 HG02922.hp1 HG02965.hp1	a0011 a0011	a0011c0018 a0011c0053 a0011c0018 a0011c0053	a0011c0018t0012 a0011c0053t0012 a0011c0018t0012 a0011c0053t0012	a0011c0018t0012g0001 a0011c0018t0012g0002 a0011c0018t0012g0095 others(1): Show a0011c0018t0012g0001 a0011c0018t0012g0002 a0011c0018t0012g0095 a0011c0053t0012g0090	4	314	0.0127	c.803 others(4): Show c.8032C>T	p.Arg others(7): Show p.Arg2678Trp	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	35/37	8239/13327	8032/8442	2678/2813	chr15	TogoVar
AKAP13_chr15_85375603_85754355	85743556	C C	T T	missense_variant missense_variant	MODERATE	HG01433.hp2 HG01928.hp1 HG01975.hp1 others(12): Show HG01433.hp2 HG01928.hp1 HG01975.hp1 HG01981.hp2 HG02148.hp1 HG02257.hp1 HG02300.hp2 HG03130.hp2 NA18986.hp2 NA19004.hp1 NA19056.hp2 NA19060.hp2 NA19080.hp2 NA19083.hp2 NA21309.hp2	a0006 a0013 a0022 others(1): Show a0006 a0013 a0022 a0034	a0006c0008 a0006c0033 a0013c0025 others(3): Show a0006c0008 a0006c0033 a0013c0025 a0013c0050 a0022c0064 a0034c0040	a0006c0008t0005 a0006c0033t0005 a0013c0025t0005 others(3): Show a0006c0008t0005 a0006c0033t0005 a0013c0025t0005 a0013c0050t0005 a0022c0064t0005 a0034c0040t0080	a0006c0008t0005g0044 a0006c0008t0005g0070 a0006c0008t0005g0099 others(12): Show a0006c0008t0005g0044 a0006c0008t0005g0070 a0006c0008t0005g0099 a0006c0008t0005g0100 a0006c0008t0005g0101 a0006c0008t0005g0102 a0006c0008t0005g0133 a0006c0008t0005g0223 a0006c0008t0005g0225 a0006c0033t0005g0229 a0013c0025t0005g0089 a0013c0025t0005g0212 a0013c0050t0005g0113 a0022c0064t0005g0165 a0034c0040t0080g0230	15	314	0.0478	c.812 others(4): Show c.8123C>T	p.Pro others(7): Show p.Pro2708Leu	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	36/37	8330/13327	8123/8442	2708/2813	chr15	TogoVar
AKAP13_chr15_85375603_85754355	85743797	G G	C C	missense_variant missense_variant	MODERATE	HG02818.hp1 HG02818.hp1	a0037 a0037	a0037c0032 a0037c0032	a0037c0032t0063 a0037c0032t0063	a0037c0032t0063g0213 a0037c0032t0063g0213	1	314	0.0032	c.836 others(4): Show c.8364G>C	p.Lys others(7): Show p.Lys2788Asn	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	36/37	8571/13327	8364/8442	2788/2813	chr15	TogoVar
AKAP13_chr15_85375603_85754355	85743800	C C	A A	missense_variant missense_variant	MODERATE	HG02818.hp1 HG02818.hp1	a0037 a0037	a0037c0032 a0037c0032	a0037c0032t0063 a0037c0032t0063	a0037c0032t0063g0213 a0037c0032t0063g0213	1	314	0.0032	c.836 others(4): Show c.8367C>A	p.Asn others(7): Show p.Asn2789Lys	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	36/37	8574/13327	8367/8442	2789/2813	chr15	TogoVar
AKAP13_chr15_85375603_85754355	85743805	C C	T T	missense_variant missense_variant	MODERATE	HG03098.hp1 HG03098.hp1	a0032 a0032	a0032c0038 a0032c0038	a0032c0038t0011 a0032c0038t0011	a0032c0038t0011g0247 a0032c0038t0011g0247	1	314	0.0032	c.837 others(4): Show c.8372C>T	p.Thr others(7): Show p.Thr2791Ile	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	36/37	8579/13327	8372/8442	2791/2813	chr15	TogoVar
AKAP13_chr15_85375603_85754355	85744634	C C	A A	missense_variant missense_variant	MODERATE	NA18960.hp1 NA19090.hp2 NA18960.hp1 NA19090.hp2	a0018 a0018	a0018c0023 a0018c0023	a0018c0023t0003 a0018c0023t0003	a0018c0023t0003g0183 a0018c0023t0003g0245 a0018c0023t0003g0183 a0018c0023t0003g0245	2	314	0.0064	c.839 others(4): Show c.8399C>A	p.Pro others(7): Show p.Pro2800His	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	37/37	8606/13327	8399/8442	2800/2813	chr15	TogoVar
AKAP13_chr15_85375603_85754355	85744636	G G	A A	missense_variant missense_variant	MODERATE	HG00408.hp1 HG00544.hp1 HG00558.hp1 others(78): Show HG00408.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00642.hp1 HG01074.hp2 HG01168.hp1 HG01169.hp2 HG01346.hp2 HG01515.hp2 HG01517.hp2 HG01891.hp1 HG02015.hp2 HG02055.hp1 HG02071.hp1 HG02080.hp1 HG02129.hp1 HG02132.hp1 HG02148.hp2 HG02280.hp1 HG02559.hp2 HG02615.hp1 HG02647.hp1 HG02717.hp2 HG02738.hp1 HG02886.hp2 HG02922.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03471.hp2 HG03492.hp2 HG03688.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04228.hp2 NA18747.hp2 NA18906.hp2 NA18940.hp2 NA18944.hp2 NA18945.hp1 NA18948.hp1 NA18950.hp2 NA18956.hp2 NA18960.hp2 NA18963.hp2 NA18964.hp1 NA18971.hp1 NA18975.hp2 NA18977.hp2 NA18980.hp2 NA18982.hp1 NA18986.hp1 NA18991.hp2 NA18992.hp2 NA18994.hp1 NA18998.hp1 NA19003.hp2 NA19004.hp2 NA19009.hp2 NA19043.hp1 NA19056.hp1 NA19057.hp1 NA19064.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19074.hp2 NA19077.hp2 NA19081.hp2 NA19091.hp2 NA19240.hp2 NA20905.hp1 NA21309.hp1	a0002 a0009 a0019 others(8): Show a0002 a0009 a0019 a0021 a0026 a0031 a0032 a0039 a0041 a0042 a0043	a0002c0001 a0002c0017 a0002c0028 others(13): Show a0002c0001 a0002c0017 a0002c0028 a0002c0035 a0002c0039 a0002c0041 a0009c0011 a0019c0020 a0021c0068 a0026c0060 a0031c0034 a0032c0038 a0039c0061 a0041c0066 a0042c0067 a0043c0069	a0002c0001t0002 a0002c0001t0007 a0002c0001t0011 others(28): Show a0002c0001t0002 a0002c0001t0007 a0002c0001t0011 a0002c0001t0015 a0002c0001t0021 a0002c0001t0035 a0002c0001t0037 a0002c0001t0042 a0002c0001t0044 a0002c0001t0045 a0002c0001t0047 a0002c0001t0048 a0002c0001t0060 a0002c0001t0073 a0002c0017t0002 a0002c0028t0046 a0002c0035t0002 a0002c0039t0002 a0002c0041t0015 a0009c0011t0020 a0009c0011t0021 a0009c0011t0043 a0019c0020t0015 a0021c0068t0081 a0026c0060t0011 a0031c0034t0007 a0032c0038t0011 a0039c0061t0002 a0041c0066t0029 a0042c0067t0029 a0043c0069t0002	a0002c0001t0002g0014 a0002c0001t0002g0020 a0002c0001t0002g0022 others(78): Show a0002c0001t0002g0014 a0002c0001t0002g0020 a0002c0001t0002g0022 a0002c0001t0002g0029 a0002c0001t0002g0030 a0002c0001t0002g0039 a0002c0001t0002g0041 a0002c0001t0002g0049 a0002c0001t0002g0054 a0002c0001t0002g0068 a0002c0001t0002g0144 a0002c0001t0002g0153 a0002c0001t0002g0154 a0002c0001t0002g0155 a0002c0001t0002g0156 a0002c0001t0002g0159 a0002c0001t0002g0160 a0002c0001t0002g0168 a0002c0001t0002g0182 a0002c0001t0002g0185 a0002c0001t0002g0186 a0002c0001t0002g0187 a0002c0001t0002g0188 a0002c0001t0002g0189 a0002c0001t0002g0192 a0002c0001t0002g0224 a0002c0001t0002g0226 a0002c0001t0002g0238 a0002c0001t0002g0241 a0002c0001t0002g0261 a0002c0001t0002g0277 a0002c0001t0002g0313 a0002c0001t0007g0053 a0002c0001t0007g0176 a0002c0001t0007g0177 a0002c0001t0007g0184 a0002c0001t0007g0233 a0002c0001t0007g0235 a0002c0001t0007g0240 a0002c0001t0007g0258 a0002c0001t0011g0103 a0002c0001t0011g0198 a0002c0001t0011g0215 a0002c0001t0011g0220 a0002c0001t0011g0222 a0002c0001t0015g0058 a0002c0001t0015g0061 a0002c0001t0015g0109 a0002c0001t0021g0282 a0002c0001t0035g0171 a0002c0001t0037g0033 a0002c0001t0042g0239 a0002c0001t0044g0036 a0002c0001t0045g0190 a0002c0001t0047g0221 a0002c0001t0048g0164 a0002c0001t0060g0055 a0002c0001t0073g0181 a0002c0017t0002g0161 a0002c0017t0002g0162 a0002c0017t0002g0167 a0002c0028t0046g0166 a0002c0035t0002g0312 a0002c0039t0002g0134 a0002c0041t0015g0066 a0009c0011t0020g0145 a0009c0011t0020g0146 a0009c0011t0020g0149 a0009c0011t0021g0270 a0009c0011t0021g0272 a0009c0011t0043g0132 a0019c0020t0015g0216 a0019c0020t0015g0217 a0021c0068t0081g0205 a0026c0060t0011g0206 a0031c0034t0007g0191 a0032c0038t0011g0247 a0039c0061t0002g0255 a0041c0066t0029g0237 a0042c0067t0029g0236 a0043c0069t0002g0253	81	314	0.2580	c.840 others(4): Show c.8401G>A	p.Ala others(7): Show p.Ala2801Thr	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	37/37	8608/13327	8401/8442	2801/2813	chr15	TogoVar
AKAP14_chrX_119890893_119925716	119914877	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00639.hp1 HG00639.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0269 a0003c0003t0001g0269	1	304	0.0033	c.440 others(3): Show c.440C>T	p.Pro others(6): Show p.Pro147Leu	AKAP14	ENSG00000186471.13	transcript	ENST00000371431.8	protein_coding	5/7	658/921	440/594	147/197	chrX	TogoVar
AKAP17A_chrX_1586604_1607520	1600981	C C	T T	missense_variant missense_variant	MODERATE	HG04184.hp2 HG04184.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0059 a0008c0009t0001g0059	1	151	0.0066	c.147 others(4): Show c.1475C>T	p.Pro others(6): Show p.Pro492Leu	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding	5/5	1660/3199	1475/2088	492/695	chrX	TogoVar
AKAP17A_chrX_1586604_1607520	1601004	C C	G G	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(80): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00408.hp2 HG00558.hp1 HG00558.hp2 HG00733.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01891.hp2 HG01993.hp1 HG02015.hp1 HG02071.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03486.hp1 HG03491.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18940.hp1 NA18947.hp1 NA18951.hp2 NA18952.hp1 NA18955.hp1 NA18959.hp1 NA18961.hp1 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18982.hp1 NA18994.hp1 NA18999.hp2 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19091.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(8): Show a0001 a0004 a0005 a0007 a0008 a0009 a0010 a0011 a0014 a0016 a0017	a0001c0001 a0001c0004 a0001c0005 others(12): Show a0001c0001 a0001c0004 a0001c0005 a0001c0012 a0001c0025 a0004c0007 a0005c0014 a0007c0024 a0008c0009 a0009c0013 a0010c0023 a0011c0010 a0014c0021 a0016c0026 a0017c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0004t0001 a0001c0004t0002 a0001c0004t0012 a0001c0004t0018 a0001c0005t0001 a0001c0005t0006 a0001c0005t0013 a0001c0012t0003 a0001c0025t0001 a0004c0007t0001 a0005c0014t0011 a0007c0024t0001 a0008c0009t0001 a0009c0013t0003 a0010c0023t0001 a0011c0010t0001 a0014c0021t0001 a0016c0026t0020 a0017c0008t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(72): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0049 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0002g0002 a0001c0001t0002g0104 a0001c0001t0008g0048 a0001c0001t0009g0010 a0001c0001t0014g0115 a0001c0001t0015g0098 a0001c0004t0001g0006 a0001c0004t0001g0008 a0001c0004t0001g0020 a0001c0004t0001g0026 a0001c0004t0001g0035 a0001c0004t0001g0037 a0001c0004t0001g0038 a0001c0004t0001g0051 a0001c0004t0002g0018 a0001c0004t0012g0065 a0001c0004t0018g0015 a0001c0005t0001g0039 a0001c0005t0001g0056 a0001c0005t0001g0060 a0001c0005t0001g0061 a0001c0005t0006g0062 a0001c0005t0013g0058 a0001c0012t0003g0124 a0001c0025t0001g0095 a0004c0007t0001g0002 a0004c0007t0001g0082 a0005c0014t0011g0052 a0007c0024t0001g0116 a0008c0009t0001g0059 a0009c0013t0003g0123 a0010c0023t0001g0087 a0011c0010t0001g0057 a0014c0021t0001g0003 a0016c0026t0020g0114 a0017c0008t0001g0050	83	151	0.5497	c.149 others(4): Show c.1498C>G	p.Pro others(6): Show p.Pro500Ala	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding	5/5	1683/3199	1498/2088	500/695	chrX	TogoVar
AKAP17A_chrX_1586604_1607520	1601035	A A	G G	missense_variant missense_variant	MODERATE	NA19062.hp1 NA19062.hp1	a0015 a0015	a0015c0016 a0015c0016	a0015c0016t0019 a0015c0016t0019	a0015c0016t0019g0014 a0015c0016t0019g0014	1	151	0.0066	c.152 others(4): Show c.1529A>G	p.Lys others(6): Show p.Lys510Arg	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding	5/5	1714/3199	1529/2088	510/695	chrX	TogoVar
AKAP17A_chrX_1586604_1607520	1601040	G G	A A	missense_variant missense_variant	MODERATE	HG02145.hp1 HG02723.hp1 HG02145.hp1 HG02723.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0002 a0004c0007t0001g0082 a0004c0007t0001g0002 a0004c0007t0001g0082	2	151	0.0133	c.153 others(4): Show c.1534G>A	p.Val others(6): Show p.Val512Met	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding	5/5	1719/3199	1534/2088	512/695	chrX	TogoVar
AKAP17A_chrX_1586604_1607520	1601134	C C	T T	missense_variant missense_variant	MODERATE	HG02976.hp2 HG03540.hp1 HG03688.hp1 others(1): Show HG02976.hp2 HG03540.hp1 HG03688.hp1 HG03704.hp1	a0003 a0009 a0003 a0009	a0003c0006 a0003c0022 a0009c0013 a0003c0006 a0003c0022 a0009c0013	a0003c0006t0003 a0003c0022t0003 a0009c0013t0003 a0003c0006t0003 a0003c0022t0003 a0009c0013t0003	a0003c0006t0003g0088 a0003c0006t0003g0105 a0003c0022t0003g0110 others(1): Show a0003c0006t0003g0088 a0003c0006t0003g0105 a0003c0022t0003g0110 a0009c0013t0003g0123	4	151	0.0265	c.162 others(4): Show c.1628C>T	p.Pro others(6): Show p.Pro543Leu	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding	5/5	1813/3199	1628/2088	543/695	chrX	TogoVar
AKAP17A_chrX_1586604_1607520	1601422	C C	T T	missense_variant missense_variant	MODERATE	HG02273.hp1 HG02273.hp1	a0010 a0010	a0010c0023 a0010c0023	a0010c0023t0001 a0010c0023t0001	a0010c0023t0001g0087 a0010c0023t0001g0087	1	151	0.0066	c.191 others(4): Show c.1916C>T	p.Thr others(6): Show p.Thr639Met	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding	5/5	2101/3199	1916/2088	639/695	chrX	TogoVar
AKAP17A_chrX_1586604_1607520	1601428	C C	T T	missense_variant missense_variant	MODERATE	NA18999.hp2 NA18999.hp2	a0011 a0011	a0011c0010 a0011c0010	a0011c0010t0001 a0011c0010t0001	a0011c0010t0001g0057 a0011c0010t0001g0057	1	151	0.0066	c.192 others(4): Show c.1922C>T	p.Pro others(6): Show p.Pro641Leu	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding	5/5	2107/3199	1922/2088	641/695	chrX	TogoVar
AKAP17A_chrX_1586604_1607520	1601545	G G	A A	missense_variant missense_variant	MODERATE	HG03491.hp1 HG03491.hp1	a0013 a0013	a0013c0019 a0013c0019	a0013c0019t0002 a0013c0019t0002	a0013c0019t0002g0023 a0013c0019t0002g0023	1	151	0.0066	c.203 others(4): Show c.2039G>A	p.Arg others(6): Show p.Arg680Gln	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding	5/5	2224/3199	2039/2088	680/695	chrX	TogoVar
AKAP1_chr17_57080246_57126344	57105517	C C	T T	missense_variant missense_variant	MODERATE	HG00408.hp2 HG00621.hp1 HG00733.hp1 others(22): Show HG00408.hp2 HG00621.hp1 HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01106.hp2 HG01123.hp1 HG01346.hp1 HG01517.hp2 HG02109.hp1 HG02698.hp1 HG02818.hp2 HG02886.hp2 HG03130.hp1 HG03195.hp1 HG03453.hp1 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG03831.hp1 HG04199.hp2 HG04228.hp2 NA20752.hp1	a0002 a0005 a0002 a0005	a0002c0003 a0005c0005 a0002c0003 a0005c0005	a0002c0003t0004 a0002c0003t0006 a0002c0003t0007 others(5): Show a0002c0003t0004 a0002c0003t0006 a0002c0003t0007 a0002c0003t0033 a0002c0003t0037 a0005c0005t0006 a0005c0005t0007 a0005c0005t0035	a0002c0003t0004g0032 a0002c0003t0004g0274 a0002c0003t0004g0275 others(19): Show a0002c0003t0004g0032 a0002c0003t0004g0274 a0002c0003t0004g0275 a0002c0003t0006g0272 a0002c0003t0007g0031 a0002c0003t0007g0265 a0002c0003t0007g0266 a0002c0003t0007g0267 a0002c0003t0007g0269 a0002c0003t0007g0270 a0002c0003t0007g0273 a0002c0003t0007g0276 a0002c0003t0007g0277 a0002c0003t0007g0278 a0002c0003t0033g0271 a0002c0003t0037g0268 a0005c0005t0006g0258 a0005c0005t0007g0017 a0005c0005t0007g0044 a0005c0005t0007g0259 a0005c0005t0007g0260 a0005c0005t0035g0152	25	396	0.0631	c.53C others(2): Show c.53C>T	p.Ala others(5): Show p.Ala18Val	AKAP1	ENSG00000121057.13	transcript	ENST00000337714.8	protein_coding	2/11	230/3909	53/2712	18/903	chr17	TogoVar
AKAP1_chr17_57080246_57126344	57105642	G G	A A	missense_variant missense_variant	MODERATE	HG02559.hp2 HG02647.hp1 HG02965.hp2 others(4): Show HG02559.hp2 HG02647.hp1 HG02965.hp2 HG02976.hp2 HG03098.hp1 NA18906.hp2 NA19030.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0005 a0004c0004t0006 others(1): Show a0004c0004t0003 a0004c0004t0005 a0004c0004t0006 a0004c0004t0016	a0004c0004t0003g0155 a0004c0004t0005g0158 a0004c0004t0005g0161 others(4): Show a0004c0004t0003g0155 a0004c0004t0005g0158 a0004c0004t0005g0161 a0004c0004t0006g0160 a0004c0004t0016g0156 a0004c0004t0016g0157 a0004c0004t0016g0159	7	396	0.0177	c.178 others(3): Show c.178G>A	p.Val others(5): Show p.Val60Met	AKAP1	ENSG00000121057.13	transcript	ENST00000337714.8	protein_coding	2/11	355/3909	178/2712	60/903	chr17	TogoVar
AKAP1_chr17_57080246_57126344	57105703	A A	G G	missense_variant missense_variant	MODERATE	NA18989.hp2 NA19087.hp1 NA18989.hp2 NA19087.hp1	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0002 a0007c0014t0002	a0007c0014t0002g0019 a0007c0014t0002g0141 a0007c0014t0002g0019 a0007c0014t0002g0141	2	396	0.0051	c.239 others(3): Show c.239A>G	p.Lys others(5): Show p.Lys80Arg	AKAP1	ENSG00000121057.13	transcript	ENST00000337714.8	protein_coding	2/11	416/3909	239/2712	80/903	chr17	TogoVar
AKAP1_chr17_57080246_57126344	57105834	C C	T T	missense_variant missense_variant	MODERATE	HG00733.hp2 HG01168.hp2 HG01516.hp2 HG00733.hp2 HG01168.hp2 HG01516.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0006 a0006c0011t0007 a0006c0011t0006 a0006c0011t0007	a0006c0011t0006g0025 a0006c0011t0007g0203 a0006c0011t0006g0025 a0006c0011t0007g0203	3	396	0.0076	c.370 others(3): Show c.370C>T	p.Arg others(6): Show p.Arg124Cys	AKAP1	ENSG00000121057.13	transcript	ENST00000337714.8	protein_coding	2/11	547/3909	370/2712	124/903	chr17	TogoVar
AKAP1_chr17_57080246_57126344	57106116	G G	A A	missense_variant missense_variant	MODERATE	HG00639.hp1 HG00639.hp1	a0011 a0011	a0011c0020 a0011c0020	a0011c0020t0036 a0011c0020t0036	a0011c0020t0036g0204 a0011c0020t0036g0204	1	396	0.0025	c.652 others(3): Show c.652G>A	p.Ala others(6): Show p.Ala218Thr	AKAP1	ENSG00000121057.13	transcript	ENST00000337714.8	protein_coding	2/11	829/3909	652/2712	218/903	chr17	TogoVar
AKAP1_chr17_57080246_57126344	57106184	G G	C C	missense_variant missense_variant	MODERATE	NA18960.hp2 NA18960.hp2	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0002 a0008c0016t0002	a0008c0016t0002g0099 a0008c0016t0002g0099	1	396	0.0025	c.720 others(3): Show c.720G>C	p.Glu others(6): Show p.Glu240Asp	AKAP1	ENSG00000121057.13	transcript	ENST00000337714.8	protein_coding	2/11	897/3909	720/2712	240/903	chr17	TogoVar
AKAP1_chr17_57080246_57126344	57106186	G G	C C	missense_variant missense_variant	MODERATE	NA21309.hp1 NA21309.hp1	a0009 a0009	a0009c0021 a0009c0021	a0009c0021t0006 a0009c0021t0006	a0009c0021t0006g0053 a0009c0021t0006g0053	1	396	0.0025	c.722 others(3): Show c.722G>C	p.Gly others(6): Show p.Gly241Ala	AKAP1	ENSG00000121057.13	transcript	ENST00000337714.8	protein_coding	2/11	899/3909	722/2712	241/903	chr17	TogoVar
AKAP1_chr17_57080246_57126344	57106365	G G	A A	missense_variant missense_variant	MODERATE	HG01884.hp1 HG02280.hp1 HG02559.hp2 others(15): Show HG01884.hp1 HG02280.hp1 HG02559.hp2 HG02572.hp2 HG02647.hp1 HG02723.hp1 HG02965.hp2 HG02976.hp2 HG03098.hp1 HG03471.hp1 HG03486.hp2 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18953.hp1 NA19030.hp2 NA19088.hp1 NA20129.hp1	a0003 a0004 a0003 a0004	a0003c0008 a0003c0009 a0003c0012 others(3): Show a0003c0008 a0003c0009 a0003c0012 a0003c0013 a0003c0022 a0004c0004	a0003c0008t0005 a0003c0008t0006 a0003c0008t0007 others(8): Show a0003c0008t0005 a0003c0008t0006 a0003c0008t0007 a0003c0009t0015 a0003c0012t0013 a0003c0013t0014 a0003c0022t0005 a0004c0004t0003 a0004c0004t0005 a0004c0004t0006 a0004c0004t0016	a0003c0008t0005g0084 a0003c0008t0006g0036 a0003c0008t0007g0051 others(14): Show a0003c0008t0005g0084 a0003c0008t0006g0036 a0003c0008t0007g0051 a0003c0009t0015g0205 a0003c0009t0015g0206 a0003c0009t0015g0207 a0003c0012t0013g0015 a0003c0013t0014g0082 a0003c0013t0014g0083 a0003c0022t0005g0052 a0004c0004t0003g0155 a0004c0004t0005g0158 a0004c0004t0005g0161 a0004c0004t0006g0160 a0004c0004t0016g0156 a0004c0004t0016g0157 a0004c0004t0016g0159	18	396	0.0455	c.901 others(3): Show c.901G>A	p.Glu others(6): Show p.Glu301Lys	AKAP1	ENSG00000121057.13	transcript	ENST00000337714.8	protein_coding	2/11	1078/3909	901/2712	301/903	chr17	TogoVar
AKAP1_chr17_57080246_57126344	57106431	G G	A A	missense_variant missense_variant	MODERATE	HG00408.hp2 HG00621.hp1 HG00733.hp1 others(15): Show HG00408.hp2 HG00621.hp1 HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01106.hp2 HG01123.hp1 HG01346.hp1 HG01517.hp2 HG02698.hp1 HG03453.hp1 HG03490.hp1 HG03492.hp1 HG03654.hp2 HG03831.hp1 HG04199.hp2 HG04228.hp2 NA20752.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0006 a0002c0003t0007 others(2): Show a0002c0003t0004 a0002c0003t0006 a0002c0003t0007 a0002c0003t0033 a0002c0003t0037	a0002c0003t0004g0032 a0002c0003t0004g0274 a0002c0003t0004g0275 others(13): Show a0002c0003t0004g0032 a0002c0003t0004g0274 a0002c0003t0004g0275 a0002c0003t0006g0272 a0002c0003t0007g0031 a0002c0003t0007g0265 a0002c0003t0007g0266 a0002c0003t0007g0267 a0002c0003t0007g0269 a0002c0003t0007g0270 a0002c0003t0007g0273 a0002c0003t0007g0276 a0002c0003t0007g0277 a0002c0003t0007g0278 a0002c0003t0033g0271 a0002c0003t0037g0268	18	396	0.0455	c.967 others(3): Show c.967G>A	p.Gly others(6): Show p.Gly323Ser	AKAP1	ENSG00000121057.13	transcript	ENST00000337714.8	protein_coding	2/11	1144/3909	967/2712	323/903	chr17	TogoVar
AKAP1_chr17_57080246_57126344	57106452	A A	G G	missense_variant missense_variant	MODERATE	HG00408.hp2 HG00621.hp1 HG00733.hp1 others(15): Show HG00408.hp2 HG00621.hp1 HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01106.hp2 HG01123.hp1 HG01346.hp1 HG01517.hp2 HG02698.hp1 HG03453.hp1 HG03490.hp1 HG03492.hp1 HG03654.hp2 HG03831.hp1 HG04199.hp2 HG04228.hp2 NA20752.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0006 a0002c0003t0007 others(2): Show a0002c0003t0004 a0002c0003t0006 a0002c0003t0007 a0002c0003t0033 a0002c0003t0037	a0002c0003t0004g0032 a0002c0003t0004g0274 a0002c0003t0004g0275 others(13): Show a0002c0003t0004g0032 a0002c0003t0004g0274 a0002c0003t0004g0275 a0002c0003t0006g0272 a0002c0003t0007g0031 a0002c0003t0007g0265 a0002c0003t0007g0266 a0002c0003t0007g0267 a0002c0003t0007g0269 a0002c0003t0007g0270 a0002c0003t0007g0273 a0002c0003t0007g0276 a0002c0003t0007g0277 a0002c0003t0007g0278 a0002c0003t0033g0271 a0002c0003t0037g0268	18	396	0.0455	c.988 others(3): Show c.988A>G	p.Ser others(6): Show p.Ser330Gly	AKAP1	ENSG00000121057.13	transcript	ENST00000337714.8	protein_coding	2/11	1165/3909	988/2712	330/903	chr17	TogoVar
AKAP1_chr17_57080246_57126344	57118419	A A	G G	missense_variant missense_variant	MODERATE	HG01175.hp1 HG01175.hp1	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0001 a0010c0018t0001	a0010c0018t0001g0218 a0010c0018t0001g0218	1	396	0.0025	c.253 others(4): Show c.2539A>G	p.Ser others(6): Show p.Ser847Gly	AKAP1	ENSG00000121057.13	transcript	ENST00000337714.8	protein_coding	9/11	2716/3909	2539/2712	847/903	chr17	TogoVar
AKAP1_chr17_57080246_57126344	57120259	A A	T T	missense_variant missense_variant	MODERATE	HG00639.hp1 HG00639.hp1	a0011 a0011	a0011c0020 a0011c0020	a0011c0020t0036 a0011c0020t0036	a0011c0020t0036g0204 a0011c0020t0036g0204	1	396	0.0025	c.264 others(4): Show c.2647A>T	p.Ile others(6): Show p.Ile883Leu	AKAP1	ENSG00000121057.13	transcript	ENST00000337714.8	protein_coding	11/11	2824/3909	2647/2712	883/903	chr17	TogoVar
AKAP3_chr12_4610518_4654051	4615833	G G	A A	missense_variant missense_variant	MODERATE	HG02723.hp1 NA18522.hp1 HG02723.hp1 NA18522.hp1	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0001 a0012c0013t0001	a0012c0013t0001g0039 a0012c0013t0001g0041 a0012c0013t0001g0039 a0012c0013t0001g0041	2	418	0.0048	c.246 others(4): Show c.2468C>T	p.Ser others(6): Show p.Ser823Leu	AKAP3	ENSG00000111254.8	transcript	ENST00000228850.6	protein_coding	6/6	3019/3334	2468/2562	823/853	chr12	TogoVar
AKAP3_chr12_4610518_4654051	4626516	C C	G G	missense_variant missense_variant	MODERATE	HG02895.hp2 HG02895.hp2	a0017 a0017	a0017c0026 a0017c0026	a0017c0026t0001 a0017c0026t0001	a0017c0026t0001g0259 a0017c0026t0001g0259	1	418	0.0024	c.238 others(4): Show c.2386G>C	p.Asp others(6): Show p.Asp796His	AKAP3	ENSG00000111254.8	transcript	ENST00000228850.6	protein_coding	5/6	2937/3334	2386/2562	796/853	chr12	TogoVar
AKAP3_chr12_4610518_4654051	4626635	G G	T T	missense_variant missense_variant	MODERATE	HG02486.hp1 HG02976.hp1 HG02486.hp1 HG02976.hp1	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0001 a0011c0014t0001	a0011c0014t0001g0116 a0011c0014t0001g0117 a0011c0014t0001g0116 a0011c0014t0001g0117	2	418	0.0048	c.226 others(4): Show c.2267C>A	p.Thr others(6): Show p.Thr756Lys	AKAP3	ENSG00000111254.8	transcript	ENST00000228850.6	protein_coding	5/6	2818/3334	2267/2562	756/853	chr12	TogoVar
AKAP3_chr12_4610518_4654051	4626728	G G	A A	missense_variant missense_variant	MODERATE	HG00323.hp1 HG00597.hp2 HG00673.hp1 others(79): Show HG00323.hp1 HG00597.hp2 HG00673.hp1 HG01074.hp2 HG01168.hp1 HG01346.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02258.hp1 HG02559.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02723.hp2 HG02886.hp1 HG02895.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp2 HG03225.hp2 HG03486.hp2 HG03516.hp2 HG03579.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04228.hp1 NA18747.hp1 NA18747.hp2 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18948.hp1 NA18950.hp1 NA18951.hp1 NA18955.hp1 NA18956.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18978.hp2 NA18979.hp1 NA18982.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18991.hp1 NA18994.hp2 NA18997.hp1 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19006.hp2 NA19007.hp2 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19059.hp2 NA19060.hp1 NA19064.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp2 NA19079.hp2 NA19085.hp2 NA19087.hp2 NA19088.hp1	a0002 a0008 a0016 others(2): Show a0002 a0008 a0016 a0017 a0018	a0002c0003 a0002c0009 a0008c0010 others(3): Show a0002c0003 a0002c0009 a0008c0010 a0016c0024 a0017c0026 a0018c0025	a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 others(6): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0002c0003t0006 a0002c0009t0001 a0008c0010t0001 a0016c0024t0001 a0017c0026t0001 a0018c0025t0001	a0002c0003t0001g0167 a0002c0003t0001g0168 a0002c0003t0001g0169 others(78): Show a0002c0003t0001g0167 a0002c0003t0001g0168 a0002c0003t0001g0169 a0002c0003t0001g0191 a0002c0003t0001g0192 a0002c0003t0001g0193 a0002c0003t0001g0194 a0002c0003t0001g0195 a0002c0003t0001g0196 a0002c0003t0001g0197 a0002c0003t0001g0198 a0002c0003t0001g0199 a0002c0003t0001g0201 a0002c0003t0001g0202 a0002c0003t0001g0203 a0002c0003t0001g0204 a0002c0003t0001g0205 a0002c0003t0001g0208 a0002c0003t0001g0209 a0002c0003t0001g0210 a0002c0003t0001g0211 a0002c0003t0001g0212 a0002c0003t0001g0213 a0002c0003t0001g0214 a0002c0003t0001g0215 a0002c0003t0001g0216 a0002c0003t0001g0217 a0002c0003t0001g0218 a0002c0003t0001g0220 a0002c0003t0001g0221 a0002c0003t0001g0222 a0002c0003t0001g0224 a0002c0003t0001g0225 a0002c0003t0001g0226 a0002c0003t0001g0228 a0002c0003t0001g0229 a0002c0003t0001g0230 a0002c0003t0001g0231 a0002c0003t0001g0232 a0002c0003t0001g0233 a0002c0003t0001g0234 a0002c0003t0001g0237 a0002c0003t0001g0238 a0002c0003t0001g0239 a0002c0003t0001g0240 a0002c0003t0001g0241 a0002c0003t0001g0242 a0002c0003t0001g0243 a0002c0003t0001g0244 a0002c0003t0001g0245 a0002c0003t0001g0246 a0002c0003t0001g0247 a0002c0003t0001g0248 a0002c0003t0001g0249 a0002c0003t0001g0251 a0002c0003t0001g0252 a0002c0003t0001g0253 a0002c0003t0001g0254 a0002c0003t0001g0255 a0002c0003t0001g0257 a0002c0003t0001g0258 a0002c0003t0001g0260 a0002c0003t0001g0262 a0002c0003t0001g0263 a0002c0003t0001g0264 a0002c0003t0002g0271 a0002c0003t0002g0272 a0002c0003t0005g0190 a0002c0003t0006g0227 a0002c0009t0001g0207 a0002c0009t0001g0219 a0002c0009t0001g0223 a0002c0009t0001g0235 a0002c0009t0001g0236 a0002c0009t0001g0261 a0008c0010t0001g0022 a0008c0010t0001g0170 a0008c0010t0001g0171 a0016c0024t0001g0250 a0017c0026t0001g0259 a0018c0025t0001g0200	82	418	0.1962	c.217 others(4): Show c.2174C>T	p.Ser others(6): Show p.Ser725Leu	AKAP3	ENSG00000111254.8	transcript	ENST00000228850.6	protein_coding	5/6	2725/3334	2174/2562	725/853	chr12	TogoVar
AKAP3_chr12_4610518_4654051	4626803	G G	A A	missense_variant missense_variant	MODERATE	HG00280.hp1 HG00408.hp1 HG00558.hp2 others(86): Show HG00280.hp1 HG00408.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00741.hp1 HG01069.hp2 HG01074.hp1 HG01106.hp2 HG01109.hp2 HG01361.hp2 HG01884.hp2 HG01952.hp1 HG02015.hp2 HG02071.hp1 HG02080.hp1 HG02135.hp1 HG02148.hp1 HG02165.hp2 HG02523.hp1 HG02559.hp1 HG02647.hp1 HG02683.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02896.hp2 HG03471.hp1 HG03491.hp2 HG03669.hp2 HG03704.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp2 NA18522.hp1 NA18942.hp2 NA18943.hp2 NA18949.hp1 NA18950.hp2 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18963.hp2 NA18965.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18974.hp2 NA18980.hp1 NA18984.hp2 NA18988.hp1 NA18990.hp1 NA18992.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19012.hp1 NA19030.hp2 NA19054.hp1 NA19058.hp2 NA19059.hp1 NA19063.hp1 NA19068.hp1 NA19068.hp2 NA19080.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp2	a0003 a0004 a0007 others(2): Show a0003 a0004 a0007 a0012 a0019	a0003c0004 a0004c0005 a0007c0011 others(3): Show a0003c0004 a0004c0005 a0007c0011 a0007c0020 a0012c0013 a0019c0023	a0003c0004t0001 a0004c0005t0001 a0007c0011t0001 others(3): Show a0003c0004t0001 a0004c0005t0001 a0007c0011t0001 a0007c0020t0002 a0012c0013t0001 a0019c0023t0001	a0003c0004t0001g0009 a0003c0004t0001g0019 a0003c0004t0001g0020 others(81): Show a0003c0004t0001g0009 a0003c0004t0001g0019 a0003c0004t0001g0020 a0003c0004t0001g0021 a0003c0004t0001g0128 a0003c0004t0001g0129 a0003c0004t0001g0133 a0003c0004t0001g0134 a0003c0004t0001g0135 a0003c0004t0001g0136 a0003c0004t0001g0137 a0003c0004t0001g0138 a0003c0004t0001g0139 a0003c0004t0001g0141 a0003c0004t0001g0142 a0003c0004t0001g0143 a0003c0004t0001g0144 a0003c0004t0001g0145 a0003c0004t0001g0146 a0003c0004t0001g0147 a0003c0004t0001g0148 a0003c0004t0001g0149 a0003c0004t0001g0150 a0003c0004t0001g0151 a0003c0004t0001g0152 a0003c0004t0001g0153 a0003c0004t0001g0154 a0003c0004t0001g0155 a0003c0004t0001g0156 a0003c0004t0001g0157 a0003c0004t0001g0158 a0003c0004t0001g0159 a0003c0004t0001g0160 a0003c0004t0001g0161 a0003c0004t0001g0162 a0003c0004t0001g0164 a0003c0004t0001g0256 a0004c0005t0001g0038 a0004c0005t0001g0040 a0004c0005t0001g0042 a0004c0005t0001g0043 a0004c0005t0001g0044 a0004c0005t0001g0045 a0004c0005t0001g0046 a0004c0005t0001g0047 a0004c0005t0001g0048 a0004c0005t0001g0049 a0004c0005t0001g0050 a0004c0005t0001g0051 a0004c0005t0001g0052 a0004c0005t0001g0053 a0004c0005t0001g0054 a0004c0005t0001g0055 a0004c0005t0001g0056 a0004c0005t0001g0057 a0004c0005t0001g0058 a0004c0005t0001g0059 a0004c0005t0001g0060 a0004c0005t0001g0061 a0004c0005t0001g0062 a0004c0005t0001g0063 a0004c0005t0001g0064 a0004c0005t0001g0065 a0004c0005t0001g0066 a0004c0005t0001g0067 a0004c0005t0001g0068 a0004c0005t0001g0069 a0004c0005t0001g0070 a0004c0005t0001g0071 a0004c0005t0001g0072 a0004c0005t0001g0073 a0004c0005t0001g0074 a0004c0005t0001g0075 a0004c0005t0001g0076 a0004c0005t0001g0077 a0004c0005t0001g0084 a0004c0005t0001g0173 a0007c0011t0001g0120 a0007c0011t0001g0121 a0007c0011t0001g0140 a0007c0020t0002g0282 a0012c0013t0001g0039 a0012c0013t0001g0041 a0019c0023t0001g0118	89	418	0.2129	c.209 others(4): Show c.2099C>T	p.Ser others(6): Show p.Ser700Phe	AKAP3	ENSG00000111254.8	transcript	ENST00000228850.6	protein_coding	5/6	2650/3334	2099/2562	700/853	chr12	TogoVar
AKAP3_chr12_4610518_4654051	4626804	A A	G G	missense_variant missense_variant	MODERATE	HG00280.hp1 HG00408.hp1 HG00558.hp2 others(86): Show HG00280.hp1 HG00408.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00741.hp1 HG01069.hp2 HG01074.hp1 HG01106.hp2 HG01109.hp2 HG01361.hp2 HG01884.hp2 HG01952.hp1 HG02015.hp2 HG02071.hp1 HG02080.hp1 HG02135.hp1 HG02148.hp1 HG02165.hp2 HG02523.hp1 HG02559.hp1 HG02647.hp1 HG02683.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02896.hp2 HG03471.hp1 HG03491.hp2 HG03669.hp2 HG03704.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp2 NA18522.hp1 NA18942.hp2 NA18943.hp2 NA18949.hp1 NA18950.hp2 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18963.hp2 NA18965.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18974.hp2 NA18980.hp1 NA18984.hp2 NA18988.hp1 NA18990.hp1 NA18992.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19012.hp1 NA19030.hp2 NA19054.hp1 NA19058.hp2 NA19059.hp1 NA19063.hp1 NA19068.hp1 NA19068.hp2 NA19080.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp2	a0003 a0004 a0007 others(2): Show a0003 a0004 a0007 a0012 a0019	a0003c0004 a0004c0005 a0007c0011 others(3): Show a0003c0004 a0004c0005 a0007c0011 a0007c0020 a0012c0013 a0019c0023	a0003c0004t0001 a0004c0005t0001 a0007c0011t0001 others(3): Show a0003c0004t0001 a0004c0005t0001 a0007c0011t0001 a0007c0020t0002 a0012c0013t0001 a0019c0023t0001	a0003c0004t0001g0009 a0003c0004t0001g0019 a0003c0004t0001g0020 others(81): Show a0003c0004t0001g0009 a0003c0004t0001g0019 a0003c0004t0001g0020 a0003c0004t0001g0021 a0003c0004t0001g0128 a0003c0004t0001g0129 a0003c0004t0001g0133 a0003c0004t0001g0134 a0003c0004t0001g0135 a0003c0004t0001g0136 a0003c0004t0001g0137 a0003c0004t0001g0138 a0003c0004t0001g0139 a0003c0004t0001g0141 a0003c0004t0001g0142 a0003c0004t0001g0143 a0003c0004t0001g0144 a0003c0004t0001g0145 a0003c0004t0001g0146 a0003c0004t0001g0147 a0003c0004t0001g0148 a0003c0004t0001g0149 a0003c0004t0001g0150 a0003c0004t0001g0151 a0003c0004t0001g0152 a0003c0004t0001g0153 a0003c0004t0001g0154 a0003c0004t0001g0155 a0003c0004t0001g0156 a0003c0004t0001g0157 a0003c0004t0001g0158 a0003c0004t0001g0159 a0003c0004t0001g0160 a0003c0004t0001g0161 a0003c0004t0001g0162 a0003c0004t0001g0164 a0003c0004t0001g0256 a0004c0005t0001g0038 a0004c0005t0001g0040 a0004c0005t0001g0042 a0004c0005t0001g0043 a0004c0005t0001g0044 a0004c0005t0001g0045 a0004c0005t0001g0046 a0004c0005t0001g0047 a0004c0005t0001g0048 a0004c0005t0001g0049 a0004c0005t0001g0050 a0004c0005t0001g0051 a0004c0005t0001g0052 a0004c0005t0001g0053 a0004c0005t0001g0054 a0004c0005t0001g0055 a0004c0005t0001g0056 a0004c0005t0001g0057 a0004c0005t0001g0058 a0004c0005t0001g0059 a0004c0005t0001g0060 a0004c0005t0001g0061 a0004c0005t0001g0062 a0004c0005t0001g0063 a0004c0005t0001g0064 a0004c0005t0001g0065 a0004c0005t0001g0066 a0004c0005t0001g0067 a0004c0005t0001g0068 a0004c0005t0001g0069 a0004c0005t0001g0070 a0004c0005t0001g0071 a0004c0005t0001g0072 a0004c0005t0001g0073 a0004c0005t0001g0074 a0004c0005t0001g0075 a0004c0005t0001g0076 a0004c0005t0001g0077 a0004c0005t0001g0084 a0004c0005t0001g0173 a0007c0011t0001g0120 a0007c0011t0001g0121 a0007c0011t0001g0140 a0007c0020t0002g0282 a0012c0013t0001g0039 a0012c0013t0001g0041 a0019c0023t0001g0118	89	418	0.2129	c.209 others(4): Show c.2098T>C	p.Ser others(6): Show p.Ser700Pro	AKAP3	ENSG00000111254.8	transcript	ENST00000228850.6	protein_coding	5/6	2649/3334	2098/2562	700/853	chr12	TogoVar
AKAP3_chr12_4610518_4654051	4626920	A A	G G	missense_variant missense_variant	MODERATE	HG00323.hp1 HG00438.hp1 HG00544.hp2 others(96): Show HG00323.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00673.hp1 HG01074.hp2 HG01168.hp1 HG01346.hp2 HG01928.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02559.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02723.hp2 HG02895.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03195.hp2 HG03516.hp2 HG03579.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04228.hp1 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18948.hp1 NA18950.hp1 NA18951.hp1 NA18955.hp1 NA18956.hp1 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp2 NA18991.hp1 NA18992.hp2 NA18994.hp2 NA18997.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp2 NA19006.hp2 NA19007.hp2 NA19011.hp2 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1	a0002 a0005 a0014 others(3): Show a0002 a0005 a0014 a0016 a0017 a0018	a0002c0003 a0002c0009 a0005c0007 others(4): Show a0002c0003 a0002c0009 a0005c0007 a0014c0019 a0016c0024 a0017c0026 a0018c0025	a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 others(7): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0002c0003t0006 a0002c0009t0001 a0005c0007t0002 a0014c0019t0002 a0016c0024t0001 a0017c0026t0001 a0018c0025t0001	a0002c0003t0001g0167 a0002c0003t0001g0168 a0002c0003t0001g0169 others(88): Show a0002c0003t0001g0167 a0002c0003t0001g0168 a0002c0003t0001g0169 a0002c0003t0001g0191 a0002c0003t0001g0192 a0002c0003t0001g0193 a0002c0003t0001g0194 a0002c0003t0001g0195 a0002c0003t0001g0196 a0002c0003t0001g0197 a0002c0003t0001g0198 a0002c0003t0001g0199 a0002c0003t0001g0201 a0002c0003t0001g0202 a0002c0003t0001g0203 a0002c0003t0001g0204 a0002c0003t0001g0205 a0002c0003t0001g0208 a0002c0003t0001g0209 a0002c0003t0001g0210 a0002c0003t0001g0211 a0002c0003t0001g0212 a0002c0003t0001g0213 a0002c0003t0001g0214 a0002c0003t0001g0215 a0002c0003t0001g0216 a0002c0003t0001g0217 a0002c0003t0001g0218 a0002c0003t0001g0220 a0002c0003t0001g0221 a0002c0003t0001g0222 a0002c0003t0001g0224 a0002c0003t0001g0225 a0002c0003t0001g0226 a0002c0003t0001g0228 a0002c0003t0001g0229 a0002c0003t0001g0230 a0002c0003t0001g0231 a0002c0003t0001g0232 a0002c0003t0001g0233 a0002c0003t0001g0234 a0002c0003t0001g0237 a0002c0003t0001g0238 a0002c0003t0001g0239 a0002c0003t0001g0240 a0002c0003t0001g0241 a0002c0003t0001g0242 a0002c0003t0001g0243 a0002c0003t0001g0244 a0002c0003t0001g0245 a0002c0003t0001g0246 a0002c0003t0001g0247 a0002c0003t0001g0248 a0002c0003t0001g0249 a0002c0003t0001g0251 a0002c0003t0001g0252 a0002c0003t0001g0253 a0002c0003t0001g0254 a0002c0003t0001g0255 a0002c0003t0001g0257 a0002c0003t0001g0258 a0002c0003t0001g0260 a0002c0003t0001g0262 a0002c0003t0001g0263 a0002c0003t0001g0264 a0002c0003t0002g0271 a0002c0003t0002g0272 a0002c0003t0005g0190 a0002c0003t0006g0227 a0002c0009t0001g0207 a0002c0009t0001g0219 a0002c0009t0001g0223 a0002c0009t0001g0235 a0002c0009t0001g0236 a0002c0009t0001g0261 a0005c0007t0002g0002 a0005c0007t0002g0026 a0005c0007t0002g0030 a0005c0007t0002g0302 a0005c0007t0002g0303 a0005c0007t0002g0308 a0005c0007t0002g0309 a0005c0007t0002g0310 a0005c0007t0002g0311 a0005c0007t0002g0312 a0005c0007t0002g0313 a0005c0007t0002g0348 a0014c0019t0002g0307 a0016c0024t0001g0250 a0017c0026t0001g0259 a0018c0025t0001g0200	99	418	0.2368	c.198 others(4): Show c.1982T>C	p.Ile others(6): Show p.Ile661Thr	AKAP3	ENSG00000111254.8	transcript	ENST00000228850.6	protein_coding	5/6	2533/3334	1982/2562	661/853	chr12	TogoVar
AKAP3_chr12_4610518_4654051	4626998	G G	T T	missense_variant missense_variant	MODERATE	HG02559.hp2 HG02559.hp2	a0018 a0018	a0018c0025 a0018c0025	a0018c0025t0001 a0018c0025t0001	a0018c0025t0001g0200 a0018c0025t0001g0200	1	418	0.0024	c.190 others(4): Show c.1904C>A	p.Ser others(6): Show p.Ser635Tyr	AKAP3	ENSG00000111254.8	transcript	ENST00000228850.6	protein_coding	5/6	2455/3334	1904/2562	635/853	chr12	TogoVar
AKAP3_chr12_4610518_4654051	4627076	C C	T T	missense_variant missense_variant	MODERATE	HG03704.hp2 HG03704.hp2	a0016 a0016	a0016c0024 a0016c0024	a0016c0024t0001 a0016c0024t0001	a0016c0024t0001g0250 a0016c0024t0001g0250	1	418	0.0024	c.182 others(4): Show c.1826G>A	p.Arg others(6): Show p.Arg609His	AKAP3	ENSG00000111254.8	transcript	ENST00000228850.6	protein_coding	5/6	2377/3334	1826/2562	609/853	chr12	TogoVar
AKAP3_chr12_4610518_4654051	4627329	C C	T T	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(402): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 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.hp1 HG01255.hp2 HG01256.hp1 HG01256.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 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020	a0001c0001 a0001c0002 a0001c0006 others(24): Show a0001c0001 a0001c0002 a0001c0006 a0001c0021 a0001c0022 a0001c0028 a0002c0003 a0002c0009 a0003c0004 a0004c0005 a0005c0007 a0007c0011 a0007c0020 a0008c0010 a0009c0016 a0009c0027 a0010c0012 a0011c0014 a0012c0013 a0013c0015 a0014c0019 a0015c0018 a0016c0024 a0017c0026 a0018c0025 a0019c0023 a0020c0017	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0008 a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 a0001c0021t0001 a0001c0022t0001 a0001c0028t0002 a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0002c0003t0006 a0002c0009t0001 a0003c0004t0001 a0004c0005t0001 a0005c0007t0002 a0007c0011t0001 a0007c0020t0002 a0008c0010t0001 a0009c0016t0001 a0009c0027t0001 a0010c0012t0001 a0011c0014t0001 a0012c0013t0001 a0013c0015t0002 a0014c0019t0002 a0015c0018t0002 a0016c0024t0001 a0017c0026t0001 a0018c0025t0001 a0019c0023t0001 a0020c0017t0002	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(343): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0267 a0001c0001t0002g0003 a0001c0001t0002g0024 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0280 a0001c0001t0002g0290 a0001c0001t0002g0295 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0335 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0340 a0001c0001t0002g0344 a0001c0002t0001g0008 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0163 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0002g0004 a0001c0002t0002g0011 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0037 a0001c0002t0002g0275 a0001c0002t0002g0281 a0001c0002t0002g0283 a0001c0002t0002g0284 a0001c0002t0002g0285 a0001c0002t0002g0286 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0291 a0001c0002t0002g0292 a0001c0002t0002g0293 a0001c0002t0002g0294 a0001c0002t0002g0296 a0001c0002t0002g0299 a0001c0002t0002g0300 a0001c0002t0002g0301 a0001c0002t0002g0304 a0001c0002t0002g0305 a0001c0002t0002g0306 a0001c0002t0002g0314 a0001c0002t0002g0315 a0001c0002t0002g0316 a0001c0002t0002g0317 a0001c0002t0002g0318 a0001c0002t0002g0319 a0001c0002t0002g0320 a0001c0002t0002g0321 a0001c0002t0002g0322 a0001c0002t0002g0323 a0001c0002t0002g0324 a0001c0002t0002g0325 a0001c0002t0002g0334 a0001c0002t0002g0336 a0001c0002t0002g0339 a0001c0002t0002g0341 a0001c0002t0002g0342 a0001c0002t0002g0343 a0001c0002t0002g0346 a0001c0002t0002g0347 a0001c0002t0002g0349 a0001c0002t0002g0353 a0001c0002t0002g0355 a0001c0002t0002g0356 a0001c0002t0002g0357 a0001c0002t0007g0268 a0001c0002t0008g0358 a0001c0006t0001g0005 a0001c0006t0001g0078 a0001c0006t0001g0079 a0001c0006t0001g0080 a0001c0006t0001g0081 a0001c0006t0001g0082 a0001c0006t0001g0083 a0001c0006t0001g0086 a0001c0006t0001g0087 a0001c0006t0001g0088 a0001c0006t0001g0091 a0001c0006t0001g0093 a0001c0006t0001g0099 a0001c0006t0001g0122 a0001c0006t0001g0130 a0001c0006t0001g0131 a0001c0006t0001g0132 a0001c0006t0001g0172 a0001c0006t0001g0179 a0001c0006t0001g0183 a0001c0006t0002g0010 a0001c0006t0002g0269 a0001c0006t0002g0270 a0001c0006t0002g0297 a0001c0006t0002g0298 a0001c0006t0002g0345 a0001c0006t0003g0025 a0001c0006t0003g0036 a0001c0006t0003g0279 a0001c0006t0003g0350 a0001c0006t0003g0351 a0001c0006t0003g0352 a0001c0021t0001g0103 a0001c0022t0001g0102 a0001c0028t0002g0331 a0002c0003t0001g0167 a0002c0003t0001g0168 a0002c0003t0001g0169 a0002c0003t0001g0191 a0002c0003t0001g0192 a0002c0003t0001g0193 a0002c0003t0001g0194 a0002c0003t0001g0195 a0002c0003t0001g0196 a0002c0003t0001g0197 a0002c0003t0001g0198 a0002c0003t0001g0199 a0002c0003t0001g0201 a0002c0003t0001g0202 a0002c0003t0001g0203 a0002c0003t0001g0204 a0002c0003t0001g0205 a0002c0003t0001g0208 a0002c0003t0001g0209 a0002c0003t0001g0210 a0002c0003t0001g0211 a0002c0003t0001g0212 a0002c0003t0001g0213 a0002c0003t0001g0214 a0002c0003t0001g0215 a0002c0003t0001g0216 a0002c0003t0001g0217 a0002c0003t0001g0218 a0002c0003t0001g0220 a0002c0003t0001g0221 a0002c0003t0001g0222 a0002c0003t0001g0224 a0002c0003t0001g0225 a0002c0003t0001g0226 a0002c0003t0001g0228 a0002c0003t0001g0229 a0002c0003t0001g0230 a0002c0003t0001g0231 a0002c0003t0001g0232 a0002c0003t0001g0233 a0002c0003t0001g0234 a0002c0003t0001g0237 a0002c0003t0001g0238 a0002c0003t0001g0239 a0002c0003t0001g0240 a0002c0003t0001g0241 a0002c0003t0001g0242 a0002c0003t0001g0243 a0002c0003t0001g0244 a0002c0003t0001g0245 a0002c0003t0001g0246 a0002c0003t0001g0247 a0002c0003t0001g0248 a0002c0003t0001g0249 a0002c0003t0001g0251 a0002c0003t0001g0252 a0002c0003t0001g0253 a0002c0003t0001g0254 a0002c0003t0001g0255 a0002c0003t0001g0257 a0002c0003t0001g0258 a0002c0003t0001g0260 a0002c0003t0001g0262 a0002c0003t0001g0263 a0002c0003t0001g0264 a0002c0003t0002g0271 a0002c0003t0002g0272 a0002c0003t0005g0190 a0002c0003t0006g0227 a0002c0009t0001g0207 a0002c0009t0001g0219 a0002c0009t0001g0223 a0002c0009t0001g0235 a0002c0009t0001g0236 a0002c0009t0001g0261 a0003c0004t0001g0009 a0003c0004t0001g0019 a0003c0004t0001g0020 a0003c0004t0001g0021 a0003c0004t0001g0128 a0003c0004t0001g0129 a0003c0004t0001g0133 a0003c0004t0001g0134 a0003c0004t0001g0135 a0003c0004t0001g0136 a0003c0004t0001g0137 a0003c0004t0001g0138 a0003c0004t0001g0139 a0003c0004t0001g0141 a0003c0004t0001g0142 a0003c0004t0001g0143 a0003c0004t0001g0144 a0003c0004t0001g0145 a0003c0004t0001g0146 a0003c0004t0001g0147 a0003c0004t0001g0148 a0003c0004t0001g0149 a0003c0004t0001g0150 a0003c0004t0001g0151 a0003c0004t0001g0152 a0003c0004t0001g0153 a0003c0004t0001g0154 a0003c0004t0001g0155 a0003c0004t0001g0156 a0003c0004t0001g0157 a0003c0004t0001g0158 a0003c0004t0001g0159 a0003c0004t0001g0160 a0003c0004t0001g0161 a0003c0004t0001g0162 a0003c0004t0001g0164 a0003c0004t0001g0256 a0004c0005t0001g0038 a0004c0005t0001g0040 a0004c0005t0001g0042 a0004c0005t0001g0043 a0004c0005t0001g0044 a0004c0005t0001g0045 a0004c0005t0001g0046 a0004c0005t0001g0047 a0004c0005t0001g0048 a0004c0005t0001g0049 a0004c0005t0001g0050 a0004c0005t0001g0051 a0004c0005t0001g0052 a0004c0005t0001g0053 a0004c0005t0001g0054 a0004c0005t0001g0055 a0004c0005t0001g0056 a0004c0005t0001g0057 a0004c0005t0001g0058 a0004c0005t0001g0059 a0004c0005t0001g0060 a0004c0005t0001g0061 a0004c0005t0001g0062 a0004c0005t0001g0063 a0004c0005t0001g0064 a0004c0005t0001g0065 a0004c0005t0001g0066 a0004c0005t0001g0067 a0004c0005t0001g0068 a0004c0005t0001g0069 a0004c0005t0001g0070 a0004c0005t0001g0071 a0004c0005t0001g0072 a0004c0005t0001g0073 a0004c0005t0001g0074 a0004c0005t0001g0075 a0004c0005t0001g0076 a0004c0005t0001g0077 a0004c0005t0001g0084 a0004c0005t0001g0173 a0005c0007t0002g0002 a0005c0007t0002g0026 a0005c0007t0002g0030 a0005c0007t0002g0302 a0005c0007t0002g0303 a0005c0007t0002g0308 a0005c0007t0002g0309 a0005c0007t0002g0310 a0005c0007t0002g0311 a0005c0007t0002g0312 a0005c0007t0002g0313 a0005c0007t0002g0348 a0007c0011t0001g0120 a0007c0011t0001g0121 a0007c0011t0001g0140 a0007c0020t0002g0282 a0008c0010t0001g0022 a0008c0010t0001g0170 a0008c0010t0001g0171 a0009c0016t0001g0165 a0009c0016t0001g0166 a0009c0027t0001g0206 a0010c0012t0001g0174 a0010c0012t0001g0265 a0010c0012t0001g0266 a0011c0014t0001g0116 a0011c0014t0001g0117 a0012c0013t0001g0039 a0012c0013t0001g0041 a0013c0015t0002g0273 a0013c0015t0002g0274 a0014c0019t0002g0307 a0015c0018t0002g0354 a0016c0024t0001g0250 a0017c0026t0001g0259 a0018c0025t0001g0200 a0019c0023t0001g0118 a0020c0017t0002g0287	405	418	0.9689	c.157 others(4): Show c.1573G>A	p.Glu others(6): Show p.Glu525Lys	AKAP3	ENSG00000111254.8	transcript	ENST00000228850.6	protein_coding	5/6	2124/3334	1573/2562	525/853	chr12	TogoVar
AKAP3_chr12_4610518_4654051	4627403	A A	G G	missense_variant missense_variant	MODERATE	HG00280.hp1 HG00621.hp2 HG00642.hp2 others(41): Show HG00280.hp1 HG00621.hp2 HG00642.hp2 HG00741.hp1 HG01069.hp2 HG01074.hp1 HG01106.hp2 HG01515.hp2 HG01952.hp1 HG02071.hp1 HG02080.hp1 HG02148.hp1 HG02165.hp2 HG02523.hp1 HG02559.hp1 HG02683.hp1 HG03704.hp1 HG03927.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG06807.hp2 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18963.hp2 NA18965.hp1 NA18974.hp2 NA18980.hp1 NA18992.hp1 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19007.hp1 NA19054.hp1 NA19058.hp2 NA19059.hp1 NA19068.hp2 NA19080.hp1 NA19083.hp1 NA19087.hp1 NA19091.hp2 NA20905.hp2	a0003 a0013 a0003 a0013	a0003c0004 a0013c0015 a0003c0004 a0013c0015	a0003c0004t0001 a0013c0015t0002 a0003c0004t0001 a0013c0015t0002	a0003c0004t0001g0009 a0003c0004t0001g0019 a0003c0004t0001g0020 others(36): Show a0003c0004t0001g0009 a0003c0004t0001g0019 a0003c0004t0001g0020 a0003c0004t0001g0021 a0003c0004t0001g0128 a0003c0004t0001g0129 a0003c0004t0001g0133 a0003c0004t0001g0134 a0003c0004t0001g0135 a0003c0004t0001g0136 a0003c0004t0001g0137 a0003c0004t0001g0138 a0003c0004t0001g0139 a0003c0004t0001g0141 a0003c0004t0001g0142 a0003c0004t0001g0143 a0003c0004t0001g0144 a0003c0004t0001g0145 a0003c0004t0001g0146 a0003c0004t0001g0147 a0003c0004t0001g0148 a0003c0004t0001g0149 a0003c0004t0001g0150 a0003c0004t0001g0151 a0003c0004t0001g0152 a0003c0004t0001g0153 a0003c0004t0001g0154 a0003c0004t0001g0155 a0003c0004t0001g0156 a0003c0004t0001g0157 a0003c0004t0001g0158 a0003c0004t0001g0159 a0003c0004t0001g0160 a0003c0004t0001g0161 a0003c0004t0001g0162 a0003c0004t0001g0164 a0003c0004t0001g0256 a0013c0015t0002g0273 a0013c0015t0002g0274	44	418	0.1053	c.149 others(4): Show c.1499T>C	p.Ile others(6): Show p.Ile500Thr	AKAP3	ENSG00000111254.8	transcript	ENST00000228850.6	protein_coding	5/6	2050/3334	1499/2562	500/853	chr12	TogoVar
AKAP3_chr12_4610518_4654051	4627511	G G	C C	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(359): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 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.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0005 a0007 a0008 a0009 a0010 a0011 a0013 a0014 a0015 a0016 a0017 a0018 a0020	a0001c0001 a0001c0002 a0001c0006 others(21): Show a0001c0001 a0001c0002 a0001c0006 a0001c0021 a0001c0022 a0001c0028 a0002c0003 a0002c0009 a0003c0004 a0005c0007 a0007c0011 a0007c0020 a0008c0010 a0009c0016 a0009c0027 a0010c0012 a0011c0014 a0013c0015 a0014c0019 a0015c0018 a0016c0024 a0017c0026 a0018c0025 a0020c0017	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0008 a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 a0001c0021t0001 a0001c0022t0001 a0001c0028t0002 a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0002c0003t0006 a0002c0009t0001 a0003c0004t0001 a0005c0007t0002 a0007c0011t0001 a0007c0020t0002 a0008c0010t0001 a0009c0016t0001 a0009c0027t0001 a0010c0012t0001 a0011c0014t0001 a0013c0015t0002 a0014c0019t0002 a0015c0018t0002 a0016c0024t0001 a0017c0026t0001 a0018c0025t0001 a0020c0017t0002	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(300): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0267 a0001c0001t0002g0003 a0001c0001t0002g0024 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0280 a0001c0001t0002g0290 a0001c0001t0002g0295 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0335 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0340 a0001c0001t0002g0344 a0001c0002t0001g0008 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0163 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0002g0004 a0001c0002t0002g0011 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0037 a0001c0002t0002g0275 a0001c0002t0002g0281 a0001c0002t0002g0283 a0001c0002t0002g0284 a0001c0002t0002g0285 a0001c0002t0002g0286 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0291 a0001c0002t0002g0292 a0001c0002t0002g0293 a0001c0002t0002g0294 a0001c0002t0002g0296 a0001c0002t0002g0299 a0001c0002t0002g0300 a0001c0002t0002g0301 a0001c0002t0002g0304 a0001c0002t0002g0305 a0001c0002t0002g0306 a0001c0002t0002g0314 a0001c0002t0002g0315 a0001c0002t0002g0316 a0001c0002t0002g0317 a0001c0002t0002g0318 a0001c0002t0002g0319 a0001c0002t0002g0320 a0001c0002t0002g0321 a0001c0002t0002g0322 a0001c0002t0002g0323 a0001c0002t0002g0324 a0001c0002t0002g0325 a0001c0002t0002g0334 a0001c0002t0002g0336 a0001c0002t0002g0339 a0001c0002t0002g0341 a0001c0002t0002g0342 a0001c0002t0002g0343 a0001c0002t0002g0346 a0001c0002t0002g0347 a0001c0002t0002g0349 a0001c0002t0002g0353 a0001c0002t0002g0355 a0001c0002t0002g0356 a0001c0002t0002g0357 a0001c0002t0007g0268 a0001c0002t0008g0358 a0001c0006t0001g0005 a0001c0006t0001g0078 a0001c0006t0001g0079 a0001c0006t0001g0080 a0001c0006t0001g0081 a0001c0006t0001g0082 a0001c0006t0001g0083 a0001c0006t0001g0086 a0001c0006t0001g0087 a0001c0006t0001g0088 a0001c0006t0001g0091 a0001c0006t0001g0093 a0001c0006t0001g0099 a0001c0006t0001g0122 a0001c0006t0001g0130 a0001c0006t0001g0131 a0001c0006t0001g0132 a0001c0006t0001g0172 a0001c0006t0001g0179 a0001c0006t0001g0183 a0001c0006t0002g0010 a0001c0006t0002g0269 a0001c0006t0002g0270 a0001c0006t0002g0297 a0001c0006t0002g0298 a0001c0006t0002g0345 a0001c0006t0003g0025 a0001c0006t0003g0036 a0001c0006t0003g0279 a0001c0006t0003g0350 a0001c0006t0003g0351 a0001c0006t0003g0352 a0001c0021t0001g0103 a0001c0022t0001g0102 a0001c0028t0002g0331 a0002c0003t0001g0167 a0002c0003t0001g0168 a0002c0003t0001g0169 a0002c0003t0001g0191 a0002c0003t0001g0192 a0002c0003t0001g0193 a0002c0003t0001g0194 a0002c0003t0001g0195 a0002c0003t0001g0196 a0002c0003t0001g0197 a0002c0003t0001g0198 a0002c0003t0001g0199 a0002c0003t0001g0201 a0002c0003t0001g0202 a0002c0003t0001g0203 a0002c0003t0001g0204 a0002c0003t0001g0205 a0002c0003t0001g0208 a0002c0003t0001g0209 a0002c0003t0001g0210 a0002c0003t0001g0211 a0002c0003t0001g0212 a0002c0003t0001g0213 a0002c0003t0001g0214 a0002c0003t0001g0215 a0002c0003t0001g0216 a0002c0003t0001g0217 a0002c0003t0001g0218 a0002c0003t0001g0220 a0002c0003t0001g0221 a0002c0003t0001g0222 a0002c0003t0001g0224 a0002c0003t0001g0225 a0002c0003t0001g0226 a0002c0003t0001g0228 a0002c0003t0001g0229 a0002c0003t0001g0230 a0002c0003t0001g0231 a0002c0003t0001g0232 a0002c0003t0001g0233 a0002c0003t0001g0234 a0002c0003t0001g0237 a0002c0003t0001g0238 a0002c0003t0001g0239 a0002c0003t0001g0240 a0002c0003t0001g0241 a0002c0003t0001g0242 a0002c0003t0001g0243 a0002c0003t0001g0244 a0002c0003t0001g0245 a0002c0003t0001g0246 a0002c0003t0001g0247 a0002c0003t0001g0248 a0002c0003t0001g0249 a0002c0003t0001g0251 a0002c0003t0001g0252 a0002c0003t0001g0253 a0002c0003t0001g0254 a0002c0003t0001g0255 a0002c0003t0001g0257 a0002c0003t0001g0258 a0002c0003t0001g0260 a0002c0003t0001g0262 a0002c0003t0001g0263 a0002c0003t0001g0264 a0002c0003t0002g0271 a0002c0003t0002g0272 a0002c0003t0005g0190 a0002c0003t0006g0227 a0002c0009t0001g0207 a0002c0009t0001g0219 a0002c0009t0001g0223 a0002c0009t0001g0235 a0002c0009t0001g0236 a0002c0009t0001g0261 a0003c0004t0001g0009 a0003c0004t0001g0019 a0003c0004t0001g0020 a0003c0004t0001g0021 a0003c0004t0001g0128 a0003c0004t0001g0129 a0003c0004t0001g0133 a0003c0004t0001g0134 a0003c0004t0001g0135 a0003c0004t0001g0136 a0003c0004t0001g0137 a0003c0004t0001g0138 a0003c0004t0001g0139 a0003c0004t0001g0141 a0003c0004t0001g0142 a0003c0004t0001g0143 a0003c0004t0001g0144 a0003c0004t0001g0145 a0003c0004t0001g0146 a0003c0004t0001g0147 a0003c0004t0001g0148 a0003c0004t0001g0149 a0003c0004t0001g0150 a0003c0004t0001g0151 a0003c0004t0001g0152 a0003c0004t0001g0153 a0003c0004t0001g0154 a0003c0004t0001g0155 a0003c0004t0001g0156 a0003c0004t0001g0157 a0003c0004t0001g0158 a0003c0004t0001g0159 a0003c0004t0001g0160 a0003c0004t0001g0161 a0003c0004t0001g0162 a0003c0004t0001g0164 a0003c0004t0001g0256 a0005c0007t0002g0002 a0005c0007t0002g0026 a0005c0007t0002g0030 a0005c0007t0002g0302 a0005c0007t0002g0303 a0005c0007t0002g0308 a0005c0007t0002g0309 a0005c0007t0002g0310 a0005c0007t0002g0311 a0005c0007t0002g0312 a0005c0007t0002g0313 a0005c0007t0002g0348 a0007c0011t0001g0120 a0007c0011t0001g0121 a0007c0011t0001g0140 a0007c0020t0002g0282 a0008c0010t0001g0022 a0008c0010t0001g0170 a0008c0010t0001g0171 a0009c0016t0001g0165 a0009c0016t0001g0166 a0009c0027t0001g0206 a0010c0012t0001g0174 a0010c0012t0001g0265 a0010c0012t0001g0266 a0011c0014t0001g0116 a0011c0014t0001g0117 a0013c0015t0002g0273 a0013c0015t0002g0274 a0014c0019t0002g0307 a0015c0018t0002g0354 a0016c0024t0001g0250 a0017c0026t0001g0259 a0018c0025t0001g0200 a0020c0017t0002g0287	362	418	0.8660	c.139 others(4): Show c.1391C>G	p.Thr others(6): Show p.Thr464Ser	AKAP3	ENSG00000111254.8	transcript	ENST00000228850.6	protein_coding	5/6	1942/3334	1391/2562	464/853	chr12	TogoVar
AKAP3_chr12_4610518_4654051	4627649	C C	T T	missense_variant missense_variant	MODERATE	NA18998.hp2 NA18998.hp2	a0014 a0014	a0014c0019 a0014c0019	a0014c0019t0002 a0014c0019t0002	a0014c0019t0002g0307 a0014c0019t0002g0307	1	418	0.0024	c.125 others(4): Show c.1253G>A	p.Arg others(6): Show p.Arg418Gln	AKAP3	ENSG00000111254.8	transcript	ENST00000228850.6	protein_coding	5/6	1804/3334	1253/2562	418/853	chr12	TogoVar
AKAP3_chr12_4610518_4654051	4628238	C C	T T	missense_variant missense_variant	MODERATE	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0015 a0015	a0015c0018 a0015c0018	a0015c0018t0002 a0015c0018t0002	a0015c0018t0002g0354 a0015c0018t0002g0354	1	418	0.0024	c.664 others(3): Show c.664G>A	p.Glu others(6): Show p.Glu222Lys	AKAP3	ENSG00000111254.8	transcript	ENST00000228850.6	protein_coding	5/6	1215/3334	664/2562	222/853	chr12	TogoVar
AKAP3_chr12_4610518_4654051	4628549	C C	T T	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(269): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18965.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19056.hp2 NA19057.hp2 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(6): Show a0001 a0004 a0005 a0007 a0011 a0012 a0014 a0015 a0020	a0001c0001 a0001c0002 a0001c0006 others(12): Show a0001c0001 a0001c0002 a0001c0006 a0001c0021 a0001c0022 a0001c0028 a0004c0005 a0005c0007 a0007c0011 a0007c0020 a0011c0014 a0012c0013 a0014c0019 a0015c0018 a0020c0017	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0008 a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 a0001c0021t0001 a0001c0022t0001 a0001c0028t0002 a0004c0005t0001 a0005c0007t0002 a0007c0011t0001 a0007c0020t0002 a0011c0014t0001 a0012c0013t0001 a0014c0019t0002 a0015c0018t0002 a0020c0017t0002	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(216): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0267 a0001c0001t0002g0003 a0001c0001t0002g0024 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0280 a0001c0001t0002g0290 a0001c0001t0002g0295 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0335 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0340 a0001c0001t0002g0344 a0001c0002t0001g0008 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0163 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0002g0004 a0001c0002t0002g0011 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0037 a0001c0002t0002g0275 a0001c0002t0002g0281 a0001c0002t0002g0283 a0001c0002t0002g0284 a0001c0002t0002g0285 a0001c0002t0002g0286 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0291 a0001c0002t0002g0292 a0001c0002t0002g0293 a0001c0002t0002g0294 a0001c0002t0002g0296 a0001c0002t0002g0299 a0001c0002t0002g0300 a0001c0002t0002g0301 a0001c0002t0002g0304 a0001c0002t0002g0305 a0001c0002t0002g0306 a0001c0002t0002g0314 a0001c0002t0002g0315 a0001c0002t0002g0316 a0001c0002t0002g0317 a0001c0002t0002g0318 a0001c0002t0002g0319 a0001c0002t0002g0320 a0001c0002t0002g0321 a0001c0002t0002g0322 a0001c0002t0002g0323 a0001c0002t0002g0324 a0001c0002t0002g0325 a0001c0002t0002g0334 a0001c0002t0002g0336 a0001c0002t0002g0339 a0001c0002t0002g0341 a0001c0002t0002g0342 a0001c0002t0002g0343 a0001c0002t0002g0346 a0001c0002t0002g0347 a0001c0002t0002g0349 a0001c0002t0002g0353 a0001c0002t0002g0355 a0001c0002t0002g0356 a0001c0002t0002g0357 a0001c0002t0007g0268 a0001c0002t0008g0358 a0001c0006t0001g0005 a0001c0006t0001g0078 a0001c0006t0001g0079 a0001c0006t0001g0080 a0001c0006t0001g0081 a0001c0006t0001g0082 a0001c0006t0001g0083 a0001c0006t0001g0086 a0001c0006t0001g0087 a0001c0006t0001g0088 a0001c0006t0001g0091 a0001c0006t0001g0093 a0001c0006t0001g0099 a0001c0006t0001g0122 a0001c0006t0001g0130 a0001c0006t0001g0131 a0001c0006t0001g0132 a0001c0006t0001g0172 a0001c0006t0001g0179 a0001c0006t0001g0183 a0001c0006t0002g0010 a0001c0006t0002g0269 a0001c0006t0002g0270 a0001c0006t0002g0297 a0001c0006t0002g0298 a0001c0006t0002g0345 a0001c0006t0003g0025 a0001c0006t0003g0036 a0001c0006t0003g0279 a0001c0006t0003g0350 a0001c0006t0003g0351 a0001c0006t0003g0352 a0001c0021t0001g0103 a0001c0022t0001g0102 a0001c0028t0002g0331 a0004c0005t0001g0038 a0004c0005t0001g0040 a0004c0005t0001g0042 a0004c0005t0001g0043 a0004c0005t0001g0044 a0004c0005t0001g0045 a0004c0005t0001g0046 a0004c0005t0001g0047 a0004c0005t0001g0048 a0004c0005t0001g0049 a0004c0005t0001g0050 a0004c0005t0001g0051 a0004c0005t0001g0052 a0004c0005t0001g0053 a0004c0005t0001g0054 a0004c0005t0001g0055 a0004c0005t0001g0056 a0004c0005t0001g0057 a0004c0005t0001g0058 a0004c0005t0001g0059 a0004c0005t0001g0060 a0004c0005t0001g0061 a0004c0005t0001g0062 a0004c0005t0001g0063 a0004c0005t0001g0064 a0004c0005t0001g0065 a0004c0005t0001g0066 a0004c0005t0001g0067 a0004c0005t0001g0068 a0004c0005t0001g0069 a0004c0005t0001g0070 a0004c0005t0001g0071 a0004c0005t0001g0072 a0004c0005t0001g0073 a0004c0005t0001g0074 a0004c0005t0001g0075 a0004c0005t0001g0076 a0004c0005t0001g0077 a0004c0005t0001g0084 a0004c0005t0001g0173 a0005c0007t0002g0002 a0005c0007t0002g0026 a0005c0007t0002g0030 a0005c0007t0002g0302 a0005c0007t0002g0303 a0005c0007t0002g0308 a0005c0007t0002g0309 a0005c0007t0002g0310 a0005c0007t0002g0311 a0005c0007t0002g0312 a0005c0007t0002g0313 a0005c0007t0002g0348 a0007c0011t0001g0120 a0007c0011t0001g0121 a0007c0011t0001g0140 a0007c0020t0002g0282 a0011c0014t0001g0116 a0011c0014t0001g0117 a0012c0013t0001g0039 a0012c0013t0001g0041 a0014c0019t0002g0307 a0015c0018t0002g0354 a0020c0017t0002g0287	272	418	0.6507	c.353 others(3): Show c.353G>A	p.Gly others(6): Show p.Gly118Glu	AKAP3	ENSG00000111254.8	transcript	ENST00000228850.6	protein_coding	5/6	904/3334	353/2562	118/853	chr12	TogoVar
AKAP3_chr12_4610518_4654051	4628642	T T	G G	missense_variant missense_variant	MODERATE	HG02818.hp1 HG03453.hp1 HG03516.hp1 HG02818.hp1 HG03453.hp1 HG03516.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0174 a0010c0012t0001g0265 a0010c0012t0001g0266 a0010c0012t0001g0174 a0010c0012t0001g0265 a0010c0012t0001g0266	3	418	0.0072	c.260 others(3): Show c.260A>C	p.Asn others(5): Show p.Asn87Thr	AKAP3	ENSG00000111254.8	transcript	ENST00000228850.6	protein_coding	5/6	811/3334	260/2562	87/853	chr12	TogoVar
AKAP3_chr12_4610518_4654051	4638153	C C	T T	missense_variant missense_variant	MODERATE	NA18985.hp2 NA18985.hp2	a0020 a0020	a0020c0017 a0020c0017	a0020c0017t0002 a0020c0017t0002	a0020c0017t0002g0287 a0020c0017t0002g0287	1	418	0.0024	c.44G others(2): Show c.44G>A	p.Cys others(5): Show p.Cys15Tyr	AKAP3	ENSG00000111254.8	transcript	ENST00000228850.6	protein_coding	4/6	595/3334	44/2562	15/853	chr12	TogoVar
AKAP4_chrX_50185777_50206007	50190971	C C	T T	missense_variant missense_variant	MODERATE	HG01884.hp2 HG02723.hp1 HG02809.hp2 others(3): Show HG01884.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp2 HG02976.hp1 HG06807.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0006 a0003c0004t0001 a0003c0004t0006	a0003c0004t0001g0011 a0003c0004t0001g0057 a0003c0004t0006g0058 a0003c0004t0001g0011 a0003c0004t0001g0057 a0003c0004t0006g0058	6	287	0.0209	c.255 others(4): Show c.2554G>A	p.Ala others(6): Show p.Ala852Thr	AKAP4	ENSG00000147081.15	transcript	ENST00000358526.7	protein_coding	6/6	2672/2866	2554/2565	852/854	chrX	TogoVar
AKAP4_chrX_50185777_50206007	50192695	G G	A A	missense_variant missense_variant	MODERATE	NA18944.hp1 NA18972.hp2 NA19000.hp1 others(3): Show NA18944.hp1 NA18972.hp2 NA19000.hp1 NA19009.hp1 NA19066.hp1 NA19090.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0010 a0004c0005t0001g0049 a0004c0005t0001g0075 a0004c0005t0001g0010 a0004c0005t0001g0049 a0004c0005t0001g0075	6	287	0.0209	c.201 others(4): Show c.2018C>T	p.Ala others(6): Show p.Ala673Val	AKAP4	ENSG00000147081.15	transcript	ENST00000358526.7	protein_coding	5/6	2136/2866	2018/2565	673/854	chrX	TogoVar
AKAP4_chrX_50185777_50206007	50192695	G G	C C	missense_variant missense_variant	MODERATE	HG01884.hp1 HG01891.hp1 HG02257.hp2 others(17): Show HG01884.hp1 HG01891.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02615.hp1 HG02970.hp1 HG03041.hp2 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 NA19043.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1	a0002 a0008 a0002 a0008	a0002c0002 a0002c0003 a0008c0011 a0002c0002 a0002c0003 a0008c0011	a0002c0002t0002 a0002c0003t0001 a0008c0011t0001 a0002c0002t0002 a0002c0003t0001 a0008c0011t0001	a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0035 others(7): Show a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0035 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0003t0001g0014 a0002c0003t0001g0025 a0002c0003t0001g0037 a0002c0003t0001g0078 a0008c0011t0001g0038	20	287	0.0697	c.201 others(4): Show c.2018C>G	p.Ala others(6): Show p.Ala673Gly	AKAP4	ENSG00000147081.15	transcript	ENST00000358526.7	protein_coding	5/6	2136/2866	2018/2565	673/854	chrX	TogoVar
AKAP4_chrX_50185777_50206007	50193101	C C	G G	missense_variant missense_variant	MODERATE	HG01346.hp2 HG01346.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0036 a0007c0010t0001g0036	1	287	0.0035	c.161 others(4): Show c.1612G>C	p.Asp others(6): Show p.Asp538His	AKAP4	ENSG00000147081.15	transcript	ENST00000358526.7	protein_coding	5/6	1730/2866	1612/2565	538/854	chrX	TogoVar

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