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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Select column to sort.

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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
AKAP4_chrX_50185777_50206007	50193826	C C	T T	missense_variant missense_variant	MODERATE	HG00280.hp1 HG00280.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0045 a0006c0009t0001g0045	1	287	0.0035	c.887 others(3): Show c.887G>A	p.Gly others(6): Show p.Gly296Asp	AKAP4	ENSG00000147081.15	transcript	ENST00000358526.7	protein_coding	5/6	1005/2866	887/2565	296/854	chrX	TogoVar
AKAP4_chrX_50185777_50206007	50194015	T T	C C	missense_variant missense_variant	MODERATE	HG03516.hp2 HG03516.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0038 a0008c0011t0001g0038	1	287	0.0035	c.698 others(3): Show c.698A>G	p.His others(6): Show p.His233Arg	AKAP4	ENSG00000147081.15	transcript	ENST00000358526.7	protein_coding	5/6	816/2866	698/2565	233/854	chrX	TogoVar
AKAP4_chrX_50185777_50206007	50198664	C C	T T	missense_variant missense_variant	MODERATE	HG02155.hp1 HG02155.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0042 a0005c0008t0001g0042	1	287	0.0035	c.116 others(3): Show c.116G>A	p.Arg others(5): Show p.Arg39Gln	AKAP4	ENSG00000147081.15	transcript	ENST00000358526.7	protein_coding	2/6	234/2866	116/2565	39/854	chrX	TogoVar
AKAP5_chr14_64460499_64479503	64468693	C C	T T	missense_variant missense_variant	MODERATE	HG00280.hp1 HG00642.hp2 HG00738.hp2 others(12): Show HG00280.hp1 HG00642.hp2 HG00738.hp2 HG01106.hp2 HG01257.hp2 HG01346.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp2 HG02602.hp1 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 NA20805.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0030 a0003c0003t0003 a0003c0003t0030	a0003c0003t0003g0001 a0003c0003t0030g0001 a0003c0003t0003g0001 a0003c0003t0030g0001	15	426	0.0352	c.299 others(3): Show c.299C>T	p.Pro others(6): Show p.Pro100Leu	AKAP5	ENSG00000179841.8	transcript	ENST00000394718.4	protein_coding	2/2	677/6487	299/1284	100/427	chr14	TogoVar
AKAP5_chr14_64460499_64479503	64468957	G G	A A	missense_variant missense_variant	MODERATE	HG01081.hp2 HG01243.hp1 HG01891.hp2 others(10): Show HG01081.hp2 HG01243.hp1 HG01891.hp2 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02257.hp1 HG02622.hp2 HG02647.hp1 HG02922.hp1 HG03209.hp2 NA18906.hp1 NA19240.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0009 a0004c0004t0024 others(1): Show a0004c0004t0001 a0004c0004t0009 a0004c0004t0024 a0004c0004t0038	a0004c0004t0001g0002 a0004c0004t0009g0002 a0004c0004t0024g0002 others(1): Show a0004c0004t0001g0002 a0004c0004t0009g0002 a0004c0004t0024g0002 a0004c0004t0038g0002	13	426	0.0305	c.563 others(3): Show c.563G>A	p.Arg others(6): Show p.Arg188Gln	AKAP5	ENSG00000179841.8	transcript	ENST00000394718.4	protein_coding	2/2	941/6487	563/1284	188/427	chr14	TogoVar
AKAP5_chr14_64460499_64479503	64469002	C C	T T	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(403): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.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 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.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 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.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 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 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.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.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.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.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 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.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 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.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 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0006	a0001c0001 a0001c0005 a0001c0008 others(5): Show a0001c0001 a0001c0005 a0001c0008 a0001c0009 a0003c0003 a0004c0004 a0005c0006 a0006c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(49): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0005t0011 a0001c0005t0013 a0001c0005t0020 a0001c0008t0018 a0001c0009t0001 a0003c0003t0003 a0003c0003t0030 a0004c0004t0001 a0004c0004t0009 a0004c0004t0024 a0004c0004t0038 a0005c0006t0005 a0006c0007t0001 a0006c0007t0005 a0006c0007t0022	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(58): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0003g0001 a0001c0001t0004g0001 a0001c0001t0004g0009 a0001c0001t0005g0001 a0001c0001t0005g0004 a0001c0001t0006g0001 a0001c0001t0007g0002 a0001c0001t0008g0002 a0001c0001t0010g0001 a0001c0001t0012g0001 a0001c0001t0014g0003 a0001c0001t0015g0002 a0001c0001t0015g0012 a0001c0001t0016g0001 a0001c0001t0017g0001 a0001c0001t0021g0001 a0001c0001t0022g0001 a0001c0001t0023g0002 a0001c0001t0025g0002 a0001c0001t0026g0001 a0001c0001t0027g0010 a0001c0001t0028g0001 a0001c0001t0029g0001 a0001c0001t0031g0002 a0001c0001t0032g0001 a0001c0001t0033g0002 a0001c0001t0034g0001 a0001c0001t0035g0008 a0001c0001t0036g0001 a0001c0001t0037g0001 a0001c0001t0039g0001 a0001c0001t0040g0002 a0001c0001t0041g0002 a0001c0001t0042g0002 a0001c0001t0043g0002 a0001c0001t0044g0002 a0001c0001t0045g0002 a0001c0001t0046g0002 a0001c0005t0011g0002 a0001c0005t0013g0002 a0001c0005t0020g0002 a0001c0008t0018g0002 a0001c0009t0001g0001 a0003c0003t0003g0001 a0003c0003t0030g0001 a0004c0004t0001g0002 a0004c0004t0009g0002 a0004c0004t0024g0002 a0004c0004t0038g0002 a0005c0006t0005g0002 a0006c0007t0001g0001 a0006c0007t0005g0001 a0006c0007t0022g0001	406	426	0.9531	c.608 others(3): Show c.608C>T	p.Thr others(6): Show p.Thr203Ile	AKAP5	ENSG00000179841.8	transcript	ENST00000394718.4	protein_coding	2/2	986/6487	608/1284	203/427	chr14	TogoVar
AKAP5_chr14_64460499_64479503	64469265	G G	A A	missense_variant missense_variant	MODERATE	NA18993.hp1 NA19009.hp2 NA19059.hp1 NA18993.hp1 NA19009.hp2 NA19059.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0005 a0006c0007t0022 a0006c0007t0001 a0006c0007t0005 a0006c0007t0022	a0006c0007t0001g0001 a0006c0007t0005g0001 a0006c0007t0022g0001 a0006c0007t0001g0001 a0006c0007t0005g0001 a0006c0007t0022g0001	3	426	0.0070	c.871 others(3): Show c.871G>A	p.Gly others(6): Show p.Gly291Arg	AKAP5	ENSG00000179841.8	transcript	ENST00000394718.4	protein_coding	2/2	1249/6487	871/1284	291/427	chr14	TogoVar
AKAP5_chr14_64460499_64479503	64469334	G G	A A	missense_variant missense_variant	MODERATE	HG02717.hp1 HG02896.hp1 HG02897.hp2 others(3): Show HG02717.hp1 HG02896.hp1 HG02897.hp2 HG03098.hp1 HG03225.hp1 HG03471.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0005 a0005c0006t0005	a0005c0006t0005g0002 a0005c0006t0005g0002	6	426	0.0141	c.940 others(3): Show c.940G>A	p.Glu others(6): Show p.Glu314Lys	AKAP5	ENSG00000179841.8	transcript	ENST00000394718.4	protein_coding	2/2	1318/6487	940/1284	314/427	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32545587	G G	T T	missense_variant missense_variant	MODERATE	HG01071.hp1 HG01071.hp1	a0029 a0029	a0029c0056 a0029c0056	a0029c0056t0003 a0029c0056t0003	a0029c0056t0003g0075 a0029c0056t0003g0075	1	154	0.0065	c.934 others(3): Show c.934G>T	p.Ala others(6): Show p.Ala312Ser	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	4/14	1079/14984	934/6960	312/2319	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32545663	C C	T T	missense_variant missense_variant	MODERATE	HG00099.hp1 HG01109.hp2 HG01175.hp2 others(25): Show HG00099.hp1 HG01109.hp2 HG01175.hp2 HG01891.hp1 HG01891.hp2 HG01978.hp1 HG01981.hp2 HG02074.hp1 HG02257.hp1 HG02572.hp2 HG02615.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02809.hp2 HG02897.hp2 HG03225.hp2 HG03516.hp1 HG06807.hp1 NA18522.hp2 NA18942.hp1 NA18995.hp2 NA19043.hp1 NA19056.hp1 NA19062.hp2 NA19077.hp1 NA19081.hp1 NA20752.hp2	a0005 a0007 a0008 others(8): Show a0005 a0007 a0008 a0010 a0011 a0012 a0013 a0025 a0026 a0027 a0028	a0005c0011 a0005c0050 a0005c0059 others(15): Show a0005c0011 a0005c0050 a0005c0059 a0007c0015 a0007c0053 a0008c0014 a0008c0055 a0010c0020 a0010c0047 a0011c0016 a0012c0048 a0012c0052 a0013c0049 a0013c0054 a0025c0028 a0026c0029 a0027c0030 a0028c0051	a0005c0011t0001 a0005c0011t0005 a0005c0011t0009 others(22): Show a0005c0011t0001 a0005c0011t0005 a0005c0011t0009 a0005c0011t0013 a0005c0050t0007 a0005c0059t0010 a0007c0015t0008 a0007c0015t0018 a0007c0015t0035 a0007c0053t0019 a0008c0014t0002 a0008c0014t0027 a0008c0014t0028 a0008c0055t0006 a0010c0020t0003 a0010c0047t0003 a0011c0016t0002 a0012c0048t0034 a0012c0052t0012 a0013c0049t0043 a0013c0054t0006 a0025c0028t0033 a0026c0029t0029 a0027c0030t0001 a0028c0051t0002	a0005c0011t0001g0024 a0005c0011t0001g0083 a0005c0011t0005g0005 others(25): Show a0005c0011t0001g0024 a0005c0011t0001g0083 a0005c0011t0005g0005 a0005c0011t0009g0153 a0005c0011t0013g0051 a0005c0050t0007g0150 a0005c0059t0010g0028 a0007c0015t0008g0127 a0007c0015t0018g0089 a0007c0015t0035g0033 a0007c0053t0019g0071 a0008c0014t0002g0018 a0008c0014t0027g0054 a0008c0014t0028g0021 a0008c0055t0006g0105 a0010c0020t0003g0058 a0010c0020t0003g0095 a0010c0047t0003g0031 a0011c0016t0002g0085 a0011c0016t0002g0088 a0012c0048t0034g0118 a0012c0052t0012g0141 a0013c0049t0043g0050 a0013c0054t0006g0106 a0025c0028t0033g0148 a0026c0029t0029g0060 a0027c0030t0001g0154 a0028c0051t0002g0011	28	154	0.1818	c.101 others(4): Show c.1010C>T	p.Ala others(6): Show p.Ala337Val	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	4/14	1155/14984	1010/6960	337/2319	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32545876	A A	G G	missense_variant missense_variant	MODERATE	HG00099.hp1 HG01109.hp2 HG01175.hp2 others(26): Show HG00099.hp1 HG01109.hp2 HG01175.hp2 HG01891.hp1 HG01891.hp2 HG01978.hp1 HG01981.hp2 HG02074.hp1 HG02257.hp1 HG02280.hp2 HG02572.hp2 HG02615.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02809.hp2 HG02897.hp2 HG03225.hp2 HG03516.hp1 HG06807.hp1 NA18522.hp2 NA18942.hp1 NA18995.hp2 NA19043.hp1 NA19056.hp1 NA19062.hp2 NA19077.hp1 NA19081.hp1 NA20752.hp2	a0005 a0007 a0008 others(9): Show a0005 a0007 a0008 a0010 a0011 a0012 a0013 a0024 a0025 a0026 a0027 a0028	a0005c0011 a0005c0050 a0005c0059 others(16): Show a0005c0011 a0005c0050 a0005c0059 a0007c0015 a0007c0053 a0008c0014 a0008c0055 a0010c0020 a0010c0047 a0011c0016 a0012c0048 a0012c0052 a0013c0049 a0013c0054 a0024c0042 a0025c0028 a0026c0029 a0027c0030 a0028c0051	a0005c0011t0001 a0005c0011t0005 a0005c0011t0009 others(23): Show a0005c0011t0001 a0005c0011t0005 a0005c0011t0009 a0005c0011t0013 a0005c0050t0007 a0005c0059t0010 a0007c0015t0008 a0007c0015t0018 a0007c0015t0035 a0007c0053t0019 a0008c0014t0002 a0008c0014t0027 a0008c0014t0028 a0008c0055t0006 a0010c0020t0003 a0010c0047t0003 a0011c0016t0002 a0012c0048t0034 a0012c0052t0012 a0013c0049t0043 a0013c0054t0006 a0024c0042t0015 a0025c0028t0033 a0026c0029t0029 a0027c0030t0001 a0028c0051t0002	a0005c0011t0001g0024 a0005c0011t0001g0083 a0005c0011t0005g0005 others(26): Show a0005c0011t0001g0024 a0005c0011t0001g0083 a0005c0011t0005g0005 a0005c0011t0009g0153 a0005c0011t0013g0051 a0005c0050t0007g0150 a0005c0059t0010g0028 a0007c0015t0008g0127 a0007c0015t0018g0089 a0007c0015t0035g0033 a0007c0053t0019g0071 a0008c0014t0002g0018 a0008c0014t0027g0054 a0008c0014t0028g0021 a0008c0055t0006g0105 a0010c0020t0003g0058 a0010c0020t0003g0095 a0010c0047t0003g0031 a0011c0016t0002g0085 a0011c0016t0002g0088 a0012c0048t0034g0118 a0012c0052t0012g0141 a0013c0049t0043g0050 a0013c0054t0006g0106 a0024c0042t0015g0151 a0025c0028t0033g0148 a0026c0029t0029g0060 a0027c0030t0001g0154 a0028c0051t0002g0011	29	154	0.1883	c.122 others(4): Show c.1223A>G	p.Asn others(6): Show p.Asn408Ser	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	4/14	1368/14984	1223/6960	408/2319	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32546191	G G	T T	missense_variant missense_variant	MODERATE	HG00099.hp1 HG01175.hp2 HG02572.hp2 others(2): Show HG00099.hp1 HG01175.hp2 HG02572.hp2 HG02809.hp2 NA20752.hp2	a0011 a0025 a0026 others(1): Show a0011 a0025 a0026 a0027	a0011c0016 a0025c0028 a0026c0029 others(1): Show a0011c0016 a0025c0028 a0026c0029 a0027c0030	a0011c0016t0002 a0025c0028t0033 a0026c0029t0029 others(1): Show a0011c0016t0002 a0025c0028t0033 a0026c0029t0029 a0027c0030t0001	a0011c0016t0002g0085 a0011c0016t0002g0088 a0025c0028t0033g0148 others(2): Show a0011c0016t0002g0085 a0011c0016t0002g0088 a0025c0028t0033g0148 a0026c0029t0029g0060 a0027c0030t0001g0154	5	154	0.0325	c.153 others(4): Show c.1538G>T	p.Arg others(6): Show p.Arg513Leu	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	4/14	1683/14984	1538/6960	513/2319	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32546427	A A	G G	missense_variant missense_variant	MODERATE	HG01884.hp2 HG01884.hp2	a0023 a0023	a0023c0041 a0023c0041	a0023c0041t0008 a0023c0041t0008	a0023c0041t0008g0047 a0023c0041t0008g0047	1	154	0.0065	c.177 others(4): Show c.1774A>G	p.Met others(6): Show p.Met592Val	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	4/14	1919/14984	1774/6960	592/2319	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32600653	T T	C C	missense_variant missense_variant	MODERATE	HG06807.hp2 HG06807.hp2	a0022 a0022	a0022c0036 a0022c0036	a0022c0036t0044 a0022c0036t0044	a0022c0036t0044g0140 a0022c0036t0044g0140	1	154	0.0065	c.259 others(4): Show c.2591T>C	p.Ile others(6): Show p.Ile864Thr	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	7/14	2736/14984	2591/6960	864/2319	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32600725	C C	A A	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00140.hp1	a0014 a0014	a0014c0037 a0014c0037	a0014c0037t0003 a0014c0037t0003	a0014c0037t0003g0100 a0014c0037t0003g0100	1	154	0.0065	c.266 others(4): Show c.2663C>A	p.Thr others(6): Show p.Thr888Asn	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	7/14	2808/14984	2663/6960	888/2319	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32732528	A A	C C	missense_variant missense_variant	MODERATE	HG02738.hp1 HG02738.hp1	a0021 a0021	a0021c0035 a0021c0035	a0021c0035t0001 a0021c0035t0001	a0021c0035t0001g0124 a0021c0035t0001g0124	1	154	0.0065	c.307 others(4): Show c.3075A>C	p.Lys others(7): Show p.Lys1025Asn	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	10/14	3220/14984	3075/6960	1025/2319	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32821719	G G	A A	missense_variant missense_variant	MODERATE	HG01175.hp2 NA20752.hp2 HG01175.hp2 NA20752.hp2	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0002 a0011c0016t0002	a0011c0016t0002g0085 a0011c0016t0002g0088 a0011c0016t0002g0085 a0011c0016t0002g0088	2	154	0.0130	c.390 others(4): Show c.3906G>A	p.Met others(7): Show p.Met1302Ile	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	13/14	4051/14984	3906/6960	1302/2319	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32822203	G G	A A	missense_variant missense_variant	MODERATE	NA19077.hp2 NA19077.hp2	a0015 a0015	a0015c0046 a0015c0046	a0015c0046t0001 a0015c0046t0001	a0015c0046t0001g0126 a0015c0046t0001g0126	1	154	0.0065	c.439 others(4): Show c.4390G>A	p.Val others(7): Show p.Val1464Met	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	13/14	4535/14984	4390/6960	1464/2319	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32822279	G G	A A	missense_variant missense_variant	MODERATE	HG02572.hp2 HG03130.hp1 HG02572.hp2 HG03130.hp1	a0016 a0025 a0016 a0025	a0016c0022 a0025c0028 a0016c0022 a0025c0028	a0016c0022t0013 a0025c0028t0033 a0016c0022t0013 a0025c0028t0033	a0016c0022t0013g0044 a0025c0028t0033g0148 a0016c0022t0013g0044 a0025c0028t0033g0148	2	154	0.0130	c.446 others(4): Show c.4466G>A	p.Ser others(7): Show p.Ser1489Asn	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	13/14	4611/14984	4466/6960	1489/2319	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32822288	C C	T T	missense_variant missense_variant	MODERATE	HG01256.hp2 HG01261.hp1 HG02055.hp1 others(57): Show HG01256.hp2 HG01261.hp1 HG02055.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp2 HG02922.hp1 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03225.hp2 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03688.hp1 HG03704.hp2 HG03831.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18942.hp2 NA18947.hp1 NA18947.hp2 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18983.hp1 NA18991.hp2 NA19043.hp2 NA19056.hp1 NA19062.hp2 NA19077.hp1 NA19077.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1	a0001 a0005 a0013 others(8): Show a0001 a0005 a0013 a0015 a0016 a0019 a0020 a0022 a0024 a0025 a0027	a0001c0001 a0001c0004 a0001c0006 others(16): Show a0001c0001 a0001c0004 a0001c0006 a0001c0010 a0001c0019 a0001c0045 a0005c0011 a0005c0050 a0005c0059 a0013c0049 a0013c0054 a0015c0046 a0016c0022 a0019c0039 a0020c0038 a0022c0036 a0024c0042 a0025c0028 a0027c0030	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(39): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0017 a0001c0001t0020 a0001c0001t0030 a0001c0001t0038 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0004t0001 a0001c0004t0005 a0001c0004t0007 a0001c0004t0013 a0001c0004t0050 a0001c0006t0001 a0001c0006t0007 a0001c0006t0010 a0001c0006t0015 a0001c0006t0017 a0001c0006t0032 a0001c0010t0001 a0001c0010t0005 a0001c0019t0001 a0001c0045t0009 a0005c0011t0001 a0005c0011t0005 a0005c0011t0009 a0005c0011t0013 a0005c0050t0007 a0005c0059t0010 a0013c0049t0043 a0013c0054t0006 a0015c0046t0001 a0016c0022t0013 a0019c0039t0023 a0020c0038t0006 a0022c0036t0044 a0024c0042t0015 a0025c0028t0033 a0027c0030t0001	a0001c0001t0001g0029 a0001c0001t0001g0039 a0001c0001t0001g0049 others(57): Show a0001c0001t0001g0029 a0001c0001t0001g0039 a0001c0001t0001g0049 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0087 a0001c0001t0001g0125 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0006g0045 a0001c0001t0008g0129 a0001c0001t0017g0112 a0001c0001t0020g0076 a0001c0001t0020g0130 a0001c0001t0030g0016 a0001c0001t0038g0038 a0001c0001t0046g0004 a0001c0001t0047g0034 a0001c0001t0048g0128 a0001c0001t0049g0015 a0001c0004t0001g0098 a0001c0004t0001g0145 a0001c0004t0005g0121 a0001c0004t0007g0013 a0001c0004t0007g0020 a0001c0004t0007g0110 a0001c0004t0013g0116 a0001c0004t0050g0146 a0001c0006t0001g0057 a0001c0006t0007g0099 a0001c0006t0010g0144 a0001c0006t0015g0135 a0001c0006t0017g0079 a0001c0006t0032g0119 a0001c0010t0001g0080 a0001c0010t0001g0084 a0001c0010t0005g0006 a0001c0010t0005g0032 a0001c0010t0005g0070 a0001c0019t0001g0002 a0001c0019t0001g0143 a0001c0045t0009g0094 a0005c0011t0001g0024 a0005c0011t0001g0083 a0005c0011t0005g0005 a0005c0011t0009g0153 a0005c0011t0013g0051 a0005c0050t0007g0150 a0005c0059t0010g0028 a0013c0049t0043g0050 a0013c0054t0006g0106 a0015c0046t0001g0126 a0016c0022t0013g0044 a0019c0039t0023g0142 a0020c0038t0006g0048 a0022c0036t0044g0140 a0024c0042t0015g0151 a0025c0028t0033g0148 a0027c0030t0001g0154	60	154	0.3896	c.447 others(4): Show c.4475C>T	p.Ala others(7): Show p.Ala1492Val	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	13/14	4620/14984	4475/6960	1492/2319	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32822311	C C	T T	missense_variant missense_variant	MODERATE	NA19240.hp1 NA19240.hp1	a0019 a0019	a0019c0039 a0019c0039	a0019c0039t0023 a0019c0039t0023	a0019c0039t0023g0142 a0019c0039t0023g0142	1	154	0.0065	c.449 others(4): Show c.4498C>T	p.Arg others(7): Show p.Arg1500Cys	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	13/14	4643/14984	4498/6960	1500/2319	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32822359	A A	G G	missense_variant missense_variant	MODERATE	HG02145.hp2 HG02895.hp2 HG02970.hp1 HG02145.hp2 HG02895.hp2 HG02970.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0037 a0009c0012t0039 a0009c0012t0040 a0009c0012t0037 a0009c0012t0039 a0009c0012t0040	a0009c0012t0037g0123 a0009c0012t0039g0136 a0009c0012t0040g0104 a0009c0012t0037g0123 a0009c0012t0039g0136 a0009c0012t0040g0104	3	154	0.0195	c.454 others(4): Show c.4546A>G	p.Thr others(7): Show p.Thr1516Ala	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	13/14	4691/14984	4546/6960	1516/2319	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32822377	G G	A A	missense_variant missense_variant	MODERATE	HG01109.hp1 HG01109.hp1	a0017 a0017	a0017c0031 a0017c0031	a0017c0031t0001 a0017c0031t0001	a0017c0031t0001g0026 a0017c0031t0001g0026	1	154	0.0065	c.456 others(4): Show c.4564G>A	p.Val others(7): Show p.Val1522Ile	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	13/14	4709/14984	4564/6960	1522/2319	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32823371	T T	C C	missense_variant missense_variant	MODERATE	HG02257.hp1 HG03225.hp2 NA19043.hp2 HG02257.hp1 HG03225.hp2 NA19043.hp2	a0013 a0020 a0013 a0020	a0013c0049 a0013c0054 a0020c0038 a0013c0049 a0013c0054 a0020c0038	a0013c0049t0043 a0013c0054t0006 a0020c0038t0006 a0013c0049t0043 a0013c0054t0006 a0020c0038t0006	a0013c0049t0043g0050 a0013c0054t0006g0106 a0020c0038t0006g0048 a0013c0049t0043g0050 a0013c0054t0006g0106 a0020c0038t0006g0048	3	154	0.0195	c.555 others(4): Show c.5558T>C	p.Val others(7): Show p.Val1853Ala	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	13/14	5703/14984	5558/6960	1853/2319	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32823916	A A	G G	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(120): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00639.hp2 HG01071.hp1 HG01071.hp2 HG01109.hp1 HG01109.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03688.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18947.hp1 NA18947.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18983.hp1 NA18991.hp1 NA18991.hp2 NA18995.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19062.hp1 NA19062.hp2 NA19077.hp1 NA19077.hp2 NA19081.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(21): Show a0001 a0002 a0004 a0005 a0006 a0007 a0009 a0010 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0027 a0029	a0001c0001 a0001c0004 a0001c0006 others(44): Show a0001c0001 a0001c0004 a0001c0006 a0001c0010 a0001c0019 a0001c0045 a0002c0002 a0002c0009 a0002c0025 a0002c0044 a0002c0058 a0004c0007 a0004c0013 a0004c0018 a0004c0021 a0004c0024 a0004c0027 a0004c0034 a0004c0040 a0005c0011 a0005c0050 a0005c0059 a0006c0008 a0006c0026 a0007c0015 a0007c0053 a0009c0012 a0010c0020 a0010c0047 a0012c0048 a0012c0052 a0013c0049 a0013c0054 a0014c0037 a0015c0046 a0016c0022 a0017c0031 a0018c0033 a0019c0039 a0020c0038 a0021c0035 a0022c0036 a0023c0041 a0024c0042 a0025c0028 a0027c0030 a0029c0056	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(87): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0017 a0001c0001t0020 a0001c0001t0030 a0001c0001t0038 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0004t0001 a0001c0004t0005 a0001c0004t0007 a0001c0004t0013 a0001c0004t0050 a0001c0006t0001 a0001c0006t0007 a0001c0006t0010 a0001c0006t0015 a0001c0006t0017 a0001c0006t0032 a0001c0010t0001 a0001c0010t0005 a0001c0019t0001 a0001c0045t0009 a0002c0002t0001 a0002c0002t0003 a0002c0002t0014 a0002c0002t0024 a0002c0002t0036 a0002c0002t0041 a0002c0002t0042 a0002c0009t0001 a0002c0009t0003 a0002c0009t0009 a0002c0009t0011 a0002c0025t0004 a0002c0044t0001 a0002c0058t0021 a0004c0007t0006 a0004c0007t0010 a0004c0007t0018 a0004c0007t0022 a0004c0013t0008 a0004c0013t0011 a0004c0013t0014 a0004c0018t0004 a0004c0021t0004 a0004c0024t0031 a0004c0027t0004 a0004c0034t0008 a0004c0040t0051 a0005c0011t0001 a0005c0011t0005 a0005c0011t0009 a0005c0011t0013 a0005c0050t0007 a0005c0059t0010 a0006c0008t0004 a0006c0008t0012 a0006c0008t0016 a0006c0026t0016 a0007c0015t0008 a0007c0015t0018 a0007c0015t0035 a0007c0053t0019 a0009c0012t0037 a0009c0012t0039 a0009c0012t0040 a0010c0020t0003 a0010c0047t0003 a0012c0048t0034 a0012c0052t0012 a0013c0049t0043 a0013c0054t0006 a0014c0037t0003 a0015c0046t0001 a0016c0022t0013 a0017c0031t0001 a0018c0033t0019 a0019c0039t0023 a0020c0038t0006 a0021c0035t0001 a0022c0036t0044 a0023c0041t0008 a0024c0042t0015 a0025c0028t0033 a0027c0030t0001 a0029c0056t0003	a0001c0001t0001g0029 a0001c0001t0001g0039 a0001c0001t0001g0049 others(120): Show a0001c0001t0001g0029 a0001c0001t0001g0039 a0001c0001t0001g0049 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0087 a0001c0001t0001g0125 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0006g0045 a0001c0001t0008g0129 a0001c0001t0017g0112 a0001c0001t0020g0076 a0001c0001t0020g0130 a0001c0001t0030g0016 a0001c0001t0038g0038 a0001c0001t0046g0004 a0001c0001t0047g0034 a0001c0001t0048g0128 a0001c0001t0049g0015 a0001c0004t0001g0098 a0001c0004t0001g0145 a0001c0004t0005g0121 a0001c0004t0007g0013 a0001c0004t0007g0020 a0001c0004t0007g0110 a0001c0004t0013g0116 a0001c0004t0050g0146 a0001c0006t0001g0057 a0001c0006t0007g0099 a0001c0006t0010g0144 a0001c0006t0015g0135 a0001c0006t0017g0079 a0001c0006t0032g0119 a0001c0010t0001g0080 a0001c0010t0001g0084 a0001c0010t0005g0006 a0001c0010t0005g0032 a0001c0010t0005g0070 a0001c0019t0001g0002 a0001c0019t0001g0143 a0001c0045t0009g0094 a0002c0002t0001g0001 a0002c0002t0001g0010 a0002c0002t0001g0046 a0002c0002t0001g0052 a0002c0002t0001g0056 a0002c0002t0001g0102 a0002c0002t0003g0074 a0002c0002t0003g0082 a0002c0002t0003g0086 a0002c0002t0003g0152 a0002c0002t0014g0097 a0002c0002t0024g0077 a0002c0002t0036g0137 a0002c0002t0041g0019 a0002c0002t0042g0030 a0002c0009t0001g0008 a0002c0009t0003g0036 a0002c0009t0003g0081 a0002c0009t0009g0092 a0002c0009t0011g0103 a0002c0025t0004g0115 a0002c0044t0001g0009 a0002c0058t0021g0062 a0004c0007t0006g0072 a0004c0007t0006g0101 a0004c0007t0010g0132 a0004c0007t0010g0133 a0004c0007t0018g0042 a0004c0007t0022g0022 a0004c0013t0008g0138 a0004c0013t0011g0007 a0004c0013t0014g0055 a0004c0018t0004g0040 a0004c0018t0004g0065 a0004c0021t0004g0131 a0004c0024t0031g0113 a0004c0027t0004g0108 a0004c0034t0008g0064 a0004c0040t0051g0120 a0005c0011t0001g0024 a0005c0011t0001g0083 a0005c0011t0005g0005 a0005c0011t0009g0153 a0005c0011t0013g0051 a0005c0050t0007g0150 a0005c0059t0010g0028 a0006c0008t0004g0114 a0006c0008t0004g0117 a0006c0008t0012g0041 a0006c0008t0012g0090 a0006c0008t0016g0043 a0006c0026t0016g0111 a0007c0015t0008g0127 a0007c0015t0018g0089 a0007c0015t0035g0033 a0007c0053t0019g0071 a0009c0012t0037g0123 a0009c0012t0039g0136 a0009c0012t0040g0104 a0010c0020t0003g0058 a0010c0020t0003g0095 a0010c0047t0003g0031 a0012c0048t0034g0118 a0012c0052t0012g0141 a0013c0049t0043g0050 a0013c0054t0006g0106 a0014c0037t0003g0100 a0015c0046t0001g0126 a0016c0022t0013g0044 a0017c0031t0001g0026 a0018c0033t0019g0147 a0019c0039t0023g0142 a0020c0038t0006g0048 a0021c0035t0001g0124 a0022c0036t0044g0140 a0023c0041t0008g0047 a0024c0042t0015g0151 a0025c0028t0033g0148 a0027c0030t0001g0154 a0029c0056t0003g0075	123	154	0.7987	c.610 others(4): Show c.6103A>G	p.Asn others(7): Show p.Asn2035Asp	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	13/14	6248/14984	6103/6960	2035/2319	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32824199	T T	C C	missense_variant missense_variant	MODERATE	NA18942.hp1 NA18942.hp1	a0028 a0028	a0028c0051 a0028c0051	a0028c0051t0002 a0028c0051t0002	a0028c0051t0002g0011 a0028c0051t0002g0011	1	154	0.0065	c.638 others(4): Show c.6386T>C	p.Ile others(7): Show p.Ile2129Thr	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	13/14	6531/14984	6386/6960	2129/2319	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32824325	T T	A A	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(35): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00639.hp2 HG01071.hp1 HG01071.hp2 HG01109.hp1 HG01256.hp1 HG01346.hp1 HG01346.hp2 HG01884.hp1 HG01891.hp1 HG01978.hp1 HG01978.hp2 HG02055.hp2 HG02109.hp1 HG02132.hp2 HG02165.hp2 HG02572.hp1 HG02622.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02922.hp2 HG02970.hp2 HG03490.hp2 NA18522.hp2 NA18906.hp1 NA18952.hp1 NA18959.hp1 NA18991.hp1 NA18995.hp1 NA19062.hp1 NA19081.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0002 a0006 a0010 others(5): Show a0002 a0006 a0010 a0012 a0014 a0017 a0021 a0029	a0002c0002 a0002c0009 a0002c0025 others(12): Show a0002c0002 a0002c0009 a0002c0025 a0002c0044 a0002c0058 a0006c0008 a0006c0026 a0010c0020 a0010c0047 a0012c0048 a0012c0052 a0014c0037 a0017c0031 a0021c0035 a0029c0056	a0002c0002t0001 a0002c0002t0003 a0002c0002t0014 others(23): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0014 a0002c0002t0024 a0002c0002t0036 a0002c0002t0041 a0002c0002t0042 a0002c0009t0001 a0002c0009t0003 a0002c0009t0009 a0002c0009t0011 a0002c0025t0004 a0002c0044t0001 a0002c0058t0021 a0006c0008t0004 a0006c0008t0012 a0006c0008t0016 a0006c0026t0016 a0010c0020t0003 a0010c0047t0003 a0012c0048t0034 a0012c0052t0012 a0014c0037t0003 a0017c0031t0001 a0021c0035t0001 a0029c0056t0003	a0002c0002t0001g0001 a0002c0002t0001g0010 a0002c0002t0001g0046 others(35): Show a0002c0002t0001g0001 a0002c0002t0001g0010 a0002c0002t0001g0046 a0002c0002t0001g0052 a0002c0002t0001g0056 a0002c0002t0001g0102 a0002c0002t0003g0074 a0002c0002t0003g0082 a0002c0002t0003g0086 a0002c0002t0003g0152 a0002c0002t0014g0097 a0002c0002t0024g0077 a0002c0002t0036g0137 a0002c0002t0041g0019 a0002c0002t0042g0030 a0002c0009t0001g0008 a0002c0009t0003g0036 a0002c0009t0003g0081 a0002c0009t0009g0092 a0002c0009t0011g0103 a0002c0025t0004g0115 a0002c0044t0001g0009 a0002c0058t0021g0062 a0006c0008t0004g0114 a0006c0008t0004g0117 a0006c0008t0012g0041 a0006c0008t0012g0090 a0006c0008t0016g0043 a0006c0026t0016g0111 a0010c0020t0003g0058 a0010c0020t0003g0095 a0010c0047t0003g0031 a0012c0048t0034g0118 a0012c0052t0012g0141 a0014c0037t0003g0100 a0017c0031t0001g0026 a0021c0035t0001g0124 a0029c0056t0003g0075	38	154	0.2468	c.651 others(4): Show c.6512T>A	p.Phe others(7): Show p.Phe2171Tyr	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	13/14	6657/14984	6512/6960	2171/2319	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32824614	A A	T T	missense_variant missense_variant	MODERATE	HG02055.hp2 HG02572.hp1 HG02717.hp2 others(5): Show HG02055.hp2 HG02572.hp1 HG02717.hp2 HG02723.hp1 HG02922.hp2 HG02970.hp2 NA18522.hp2 NA18906.hp1	a0006 a0012 a0006 a0012	a0006c0008 a0006c0026 a0012c0048 others(1): Show a0006c0008 a0006c0026 a0012c0048 a0012c0052	a0006c0008t0004 a0006c0008t0012 a0006c0008t0016 others(3): Show a0006c0008t0004 a0006c0008t0012 a0006c0008t0016 a0006c0026t0016 a0012c0048t0034 a0012c0052t0012	a0006c0008t0004g0114 a0006c0008t0004g0117 a0006c0008t0012g0041 others(5): Show a0006c0008t0004g0114 a0006c0008t0004g0117 a0006c0008t0012g0041 a0006c0008t0012g0090 a0006c0008t0016g0043 a0006c0026t0016g0111 a0012c0048t0034g0118 a0012c0052t0012g0141	8	154	0.0520	c.680 others(4): Show c.6801A>T	p.Glu others(7): Show p.Glu2267Asp	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	13/14	6946/14984	6801/6960	2267/2319	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32824730	T T	G G	missense_variant missense_variant	MODERATE	HG03098.hp2 HG03098.hp2	a0018 a0018	a0018c0033 a0018c0033	a0018c0033t0019 a0018c0033t0019	a0018c0033t0019g0147 a0018c0033t0019g0147	1	154	0.0065	c.691 others(4): Show c.6917T>G	p.Leu others(7): Show p.Leu2306Arg	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	13/14	7062/14984	6917/6960	2306/2319	chr14	TogoVar
AKAP7_chr6_131130467_131288532	131145341	G G	A A	missense_variant missense_variant	MODERATE	HG01123.hp2 HG03225.hp2 HG03516.hp1 others(2): Show HG01123.hp2 HG03225.hp2 HG03516.hp1 NA18906.hp2 NA20129.hp2	a0006 a0011 a0006 a0011	a0006c0006 a0011c0007 a0006c0006 a0011c0007	a0006c0006t0014 a0006c0006t0016 a0006c0006t0035 others(1): Show a0006c0006t0014 a0006c0006t0016 a0006c0006t0035 a0011c0007t0029	a0006c0006t0014g0003 a0006c0006t0014g0004 a0006c0006t0016g0005 others(2): Show a0006c0006t0014g0003 a0006c0006t0014g0004 a0006c0006t0016g0005 a0006c0006t0035g0217 a0011c0007t0029g0227	5	304	0.0165	c.76G others(2): Show c.76G>A	p.Glu others(5): Show p.Glu26Lys	AKAP7	ENSG00000118507.19	transcript	ENST00000431975.7	protein_coding	2/8	373/3150	76/1047	26/348	chr6	TogoVar
AKAP7_chr6_131130467_131288532	131145366	C C	T T	missense_variant missense_variant	MODERATE	NA18946.hp1 NA18946.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0004 a0007c0011t0004	a0007c0011t0004g0198 a0007c0011t0004g0198	1	304	0.0033	c.101 others(3): Show c.101C>T	p.Ser others(5): Show p.Ser34Phe	AKAP7	ENSG00000118507.19	transcript	ENST00000431975.7	protein_coding	2/8	398/3150	101/1047	34/348	chr6	TogoVar
AKAP7_chr6_131130467_131288532	131165133	G G	A A	missense_variant missense_variant	MODERATE	NA18981.hp1 NA18981.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0006 a0008c0008t0006	a0008c0008t0006g0002 a0008c0008t0006g0002	1	304	0.0033	c.344 others(3): Show c.344G>A	p.Arg others(6): Show p.Arg115Gln	AKAP7	ENSG00000118507.19	transcript	ENST00000431975.7	protein_coding	4/8	641/3150	344/1047	115/348	chr6	TogoVar
AKAP7_chr6_131130467_131288532	131165197	A A	C C	missense_variant missense_variant	MODERATE	HG03516.hp1 HG03516.hp1	a0011 a0011	a0011c0007 a0011c0007	a0011c0007t0029 a0011c0007t0029	a0011c0007t0029g0227 a0011c0007t0029g0227	1	304	0.0033	c.408 others(3): Show c.408A>C	p.Leu others(6): Show p.Leu136Phe	AKAP7	ENSG00000118507.19	transcript	ENST00000431975.7	protein_coding	4/8	705/3150	408/1047	136/348	chr6	TogoVar
AKAP7_chr6_131130467_131288532	131169123	G G	T T	missense_variant missense_variant	MODERATE	HG01891.hp2 HG02559.hp1 HG02647.hp1 others(7): Show HG01891.hp2 HG02559.hp1 HG02647.hp1 HG02818.hp2 HG02922.hp2 HG02970.hp1 HG03195.hp1 HG03225.hp1 HG03540.hp2 HG06807.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0008 a0003c0003t0010 others(2): Show a0003c0003t0007 a0003c0003t0008 a0003c0003t0010 a0003c0003t0019 a0003c0003t0032	a0003c0003t0007g0228 a0003c0003t0008g0143 a0003c0003t0008g0144 others(7): Show a0003c0003t0007g0228 a0003c0003t0008g0143 a0003c0003t0008g0144 a0003c0003t0008g0145 a0003c0003t0008g0146 a0003c0003t0008g0147 a0003c0003t0008g0148 a0003c0003t0010g0082 a0003c0003t0019g0242 a0003c0003t0032g0301	10	304	0.0329	c.439 others(3): Show c.439G>T	p.Ala others(6): Show p.Ala147Ser	AKAP7	ENSG00000118507.19	transcript	ENST00000431975.7	protein_coding	5/8	736/3150	439/1047	147/348	chr6	TogoVar
AKAP7_chr6_131130467_131288532	131169171	C C	T T	missense_variant missense_variant	MODERATE	NA18977.hp2 NA18977.hp2	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0002 a0010c0010t0002	a0010c0010t0002g0249 a0010c0010t0002g0249	1	304	0.0033	c.487 others(3): Show c.487C>T	p.His others(6): Show p.His163Tyr	AKAP7	ENSG00000118507.19	transcript	ENST00000431975.7	protein_coding	5/8	784/3150	487/1047	163/348	chr6	TogoVar
AKAP7_chr6_131130467_131288532	131199502	G G	C C	missense_variant missense_variant	MODERATE	HG01891.hp1 HG02109.hp1 HG02145.hp2 others(2): Show HG01891.hp1 HG02109.hp1 HG02145.hp2 HG02717.hp2 HG03453.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0005 a0005c0005t0011 a0005c0005t0005 a0005c0005t0011	a0005c0005t0005g0097 a0005c0005t0005g0098 a0005c0005t0005g0099 others(2): Show a0005c0005t0005g0097 a0005c0005t0005g0098 a0005c0005t0005g0099 a0005c0005t0011g0139 a0005c0005t0011g0165	5	304	0.0165	c.631 others(3): Show c.631G>C	p.Gly others(6): Show p.Gly211Arg	AKAP7	ENSG00000118507.19	transcript	ENST00000431975.7	protein_coding	6/8	928/3150	631/1047	211/348	chr6	TogoVar
AKAP7_chr6_131130467_131288532	131199515	G G	A A	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(47): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01981.hp2 HG02004.hp2 HG02055.hp1 HG02074.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02602.hp1 HG02622.hp2 HG02809.hp2 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03490.hp1 HG03492.hp1 HG03669.hp2 HG03688.hp1 HG03927.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA19043.hp2 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(8): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0015 a0002c0002t0017 a0002c0002t0020 a0002c0002t0024 a0002c0002t0027 a0002c0002t0036 a0002c0002t0037 a0002c0002t0039	a0002c0002t0001g0027 a0002c0002t0001g0063 a0002c0002t0001g0067 others(47): Show a0002c0002t0001g0027 a0002c0002t0001g0063 a0002c0002t0001g0067 a0002c0002t0001g0090 a0002c0002t0001g0093 a0002c0002t0001g0096 a0002c0002t0001g0106 a0002c0002t0001g0109 a0002c0002t0001g0114 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0133 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0157 a0002c0002t0001g0159 a0002c0002t0001g0177 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0229 a0002c0002t0002g0233 a0002c0002t0002g0235 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0265 a0002c0002t0002g0273 a0002c0002t0002g0288 a0002c0002t0002g0302 a0002c0002t0003g0048 a0002c0002t0003g0050 a0002c0002t0003g0069 a0002c0002t0003g0070 a0002c0002t0003g0108 a0002c0002t0003g0113 a0002c0002t0003g0119 a0002c0002t0003g0132 a0002c0002t0003g0134 a0002c0002t0003g0137 a0002c0002t0015g0008 a0002c0002t0015g0009 a0002c0002t0017g0007 a0002c0002t0017g0010 a0002c0002t0020g0149 a0002c0002t0024g0160 a0002c0002t0027g0231 a0002c0002t0036g0222 a0002c0002t0037g0162 a0002c0002t0039g0079	50	304	0.1645	c.644 others(3): Show c.644G>A	p.Ser others(6): Show p.Ser215Asn	AKAP7	ENSG00000118507.19	transcript	ENST00000431975.7	protein_coding	6/8	941/3150	644/1047	215/348	chr6	TogoVar
AKAP7_chr6_131130467_131288532	131199551	A A	G G	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00323.hp2 HG01071.hp2 others(4): Show HG00099.hp1 HG00323.hp2 HG01071.hp2 HG01169.hp2 HG01255.hp1 HG01978.hp1 HG01993.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0003 a0004c0004t0001 a0004c0004t0003	a0004c0004t0001g0001 a0004c0004t0001g0128 a0004c0004t0001g0130 others(3): Show a0004c0004t0001g0001 a0004c0004t0001g0128 a0004c0004t0001g0130 a0004c0004t0001g0216 a0004c0004t0003g0054 a0004c0004t0003g0167	7	304	0.0230	c.680 others(3): Show c.680A>G	p.Lys others(6): Show p.Lys227Arg	AKAP7	ENSG00000118507.19	transcript	ENST00000431975.7	protein_coding	6/8	977/3150	680/1047	227/348	chr6	TogoVar
AKAP7_chr6_131130467_131288532	131219733	C C	T T	missense_variant missense_variant	MODERATE	HG02258.hp2 HG02258.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0005 a0009c0009t0005	a0009c0009t0005g0230 a0009c0009t0005g0230	1	304	0.0033	c.775 others(3): Show c.775C>T	p.Arg others(6): Show p.Arg259Cys	AKAP7	ENSG00000118507.19	transcript	ENST00000431975.7	protein_coding	7/8	1072/3150	775/1047	259/348	chr6	TogoVar
AKAP8L_chr19_15375050_15423988	15400339	C C	T T	missense_variant missense_variant	MODERATE	NA19007.hp1 NA19007.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0079 a0002c0005t0001g0079	1	254	0.0039	c.100 others(4): Show c.1004G>A	p.Gly others(6): Show p.Gly335Glu	AKAP8L	ENSG00000011243.19	transcript	ENST00000397410.10	protein_coding	8/14	1069/2078	1004/1941	335/646	chr19	TogoVar
AKAP8L_chr19_15375050_15423988	15401214	C C	A A	missense_variant missense_variant	MODERATE	NA18966.hp2 NA18966.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0091 a0003c0008t0001g0091	1	254	0.0039	c.752 others(3): Show c.752G>T	p.Gly others(6): Show p.Gly251Val	AKAP8L	ENSG00000011243.19	transcript	ENST00000397410.10	protein_coding	5/14	817/2078	752/1941	251/646	chr19	TogoVar
AKAP8L_chr19_15375050_15423988	15401468	G G	T T	missense_variant missense_variant	MODERATE	HG02165.hp1 HG02165.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0101 a0004c0004t0001g0101	1	254	0.0039	c.498 others(3): Show c.498C>A	p.Asp others(6): Show p.Asp166Glu	AKAP8L	ENSG00000011243.19	transcript	ENST00000397410.10	protein_coding	5/14	563/2078	498/1941	166/646	chr19	TogoVar
AKAP8L_chr19_15375050_15423988	15401516	G G	C C	missense_variant missense_variant	MODERATE	HG03225.hp2 HG03225.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0217 a0005c0009t0001g0217	1	254	0.0039	c.450 others(3): Show c.450C>G	p.Asp others(6): Show p.Asp150Glu	AKAP8L	ENSG00000011243.19	transcript	ENST00000397410.10	protein_coding	5/14	515/2078	450/1941	150/646	chr19	TogoVar
AKAP8_chr19_15348385_15384787	15362133	C C	T T	missense_variant missense_variant	MODERATE	NA20300.hp1 NA20300.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0005 a0004c0010t0005	a0004c0010t0005g0074 a0004c0010t0005g0074	1	286	0.0035	c.127 others(4): Show c.1279G>A	p.Asp others(6): Show p.Asp427Asn	AKAP8	ENSG00000105127.10	transcript	ENST00000269701.7	protein_coding	10/14	1335/3665	1279/2079	427/692	chr19	TogoVar
AKAP8_chr19_15348385_15384787	15362192	T T	C C	missense_variant missense_variant	MODERATE	NA20300.hp1 NA20300.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0005 a0004c0010t0005	a0004c0010t0005g0074 a0004c0010t0005g0074	1	286	0.0035	c.122 others(4): Show c.1220A>G	p.Lys others(6): Show p.Lys407Arg	AKAP8	ENSG00000105127.10	transcript	ENST00000269701.7	protein_coding	10/14	1276/3665	1220/2079	407/692	chr19	TogoVar
AKAP8_chr19_15348385_15384787	15370170	G G	A A	missense_variant missense_variant	MODERATE	HG01884.hp2 HG02109.hp2 HG02615.hp2 others(5): Show HG01884.hp2 HG02109.hp2 HG02615.hp2 HG02895.hp2 HG03098.hp1 HG03195.hp1 HG03471.hp2 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0005 a0002c0002t0003 a0002c0002t0005	a0002c0002t0003g0221 a0002c0002t0005g0007 a0002c0002t0005g0217 others(3): Show a0002c0002t0003g0221 a0002c0002t0005g0007 a0002c0002t0005g0217 a0002c0002t0005g0218 a0002c0002t0005g0219 a0002c0002t0005g0220	8	286	0.0280	c.104 others(4): Show c.1048C>T	p.Leu others(6): Show p.Leu350Phe	AKAP8	ENSG00000105127.10	transcript	ENST00000269701.7	protein_coding	8/14	1104/3665	1048/2079	350/692	chr19	TogoVar
AKAP8_chr19_15348385_15384787	15371977	C C	T T	missense_variant missense_variant	MODERATE	HG03927.hp2 HG03927.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0103 a0003c0007t0002g0103	1	286	0.0035	c.101 others(4): Show c.1013G>A	p.Arg others(6): Show p.Arg338His	AKAP8	ENSG00000105127.10	transcript	ENST00000269701.7	protein_coding	7/14	1069/3665	1013/2079	338/692	chr19	TogoVar
AKAP8_chr19_15348385_15384787	15372316	G G	T T	missense_variant missense_variant	MODERATE	NA19005.hp2 NA19005.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0102 a0005c0006t0001g0102	1	286	0.0035	c.893 others(3): Show c.893C>A	p.Pro others(6): Show p.Pro298Gln	AKAP8	ENSG00000105127.10	transcript	ENST00000269701.7	protein_coding	6/14	949/3665	893/2079	298/692	chr19	TogoVar
AKAP8_chr19_15348385_15384787	15373966	T T	C C	missense_variant missense_variant	MODERATE	HG02809.hp1 HG02809.hp1	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0001 a0006c0014t0001	a0006c0014t0001g0203 a0006c0014t0001g0203	1	286	0.0035	c.191 others(3): Show c.191A>G	p.Asn others(5): Show p.Asn64Ser	AKAP8	ENSG00000105127.10	transcript	ENST00000269701.7	protein_coding	4/14	247/3665	191/2079	64/692	chr19	TogoVar
AKAP8_chr19_15348385_15384787	15374050	T T	C C	missense_variant missense_variant	MODERATE	HG01169.hp1 HG01169.hp1	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0006 a0007c0016t0006	a0007c0016t0006g0204 a0007c0016t0006g0204	1	286	0.0035	c.107 others(3): Show c.107A>G	p.Asn others(5): Show p.Asn36Ser	AKAP8	ENSG00000105127.10	transcript	ENST00000269701.7	protein_coding	4/14	163/3665	107/2079	36/692	chr19	TogoVar

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