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
AK3_chr9_4704556_4746202	4718440	T T	G G	missense_variant missense_variant	MODERATE	HG01192.hp2 HG01884.hp1 HG02809.hp1 others(4): Show HG01192.hp2 HG01884.hp1 HG02809.hp1 HG02895.hp1 HG02896.hp2 HG03139.hp1 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0006 a0002c0003t0006 a0002c0003t0053 a0002c0002t0006 a0002c0003t0006 a0002c0003t0053	a0002c0002t0006g0429 a0002c0002t0006g0430 a0002c0002t0006g0431 others(4): Show a0002c0002t0006g0429 a0002c0002t0006g0430 a0002c0002t0006g0431 a0002c0002t0006g0432 a0002c0003t0006g0083 a0002c0003t0006g0104 a0002c0003t0053g0095	7	462	0.0152	c.542 others(3): Show c.542A>C	p.Lys others(6): Show p.Lys181Thr	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	4/5	657/4219	542/684	181/227	chr9	TogoVar
AK3_chr9_4704556_4746202	4722575	C C	G G	missense_variant missense_variant	MODERATE	HG02155.hp1 HG02155.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0145 a0004c0005t0002g0145	1	462	0.0022	c.202 others(3): Show c.202G>C	p.Asp others(5): Show p.Asp68His	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	2/5	317/4219	202/684	68/227	chr9	TogoVar
AK3_chr9_4704556_4746202	4741075	C C	T T	missense_variant missense_variant	MODERATE	HG02818.hp1 HG02818.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0003 a0005c0004t0003	a0005c0004t0003g0014 a0005c0004t0003g0014	1	462	0.0022	c.13G others(2): Show c.13G>A	p.Ala others(4): Show p.Ala5Thr	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	1/5	128/4219	13/684	5/227	chr9	TogoVar
AK4_chr1_65143203_65237145	65148471	T T	A A	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00609.hp2 HG00621.hp1 others(80): Show HG00140.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00738.hp1 HG01192.hp1 HG01433.hp1 HG01515.hp1 HG01934.hp2 HG02015.hp1 HG02055.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18947.hp1 NA18950.hp1 NA18953.hp2 NA18957.hp1 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18970.hp2 NA18977.hp1 NA18977.hp2 NA18984.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19063.hp2 NA19066.hp2 NA19074.hp1 NA19076.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA21309.hp2	a0002 a0004 a0002 a0004	a0002c0003 a0002c0004 a0002c0005 others(1): Show a0002c0003 a0002c0004 a0002c0005 a0004c0007	a0002c0003t0003 a0002c0003t0004 a0002c0003t0007 others(31): Show a0002c0003t0003 a0002c0003t0004 a0002c0003t0007 a0002c0003t0011 a0002c0003t0024 a0002c0003t0036 a0002c0003t0038 a0002c0003t0039 a0002c0003t0041 a0002c0004t0003 a0002c0004t0004 a0002c0004t0007 a0002c0004t0009 a0002c0004t0012 a0002c0004t0013 a0002c0004t0015 a0002c0004t0019 a0002c0004t0021 a0002c0004t0023 a0002c0004t0032 a0002c0004t0037 a0002c0004t0042 a0002c0004t0046 a0002c0004t0047 a0002c0004t0048 a0002c0004t0049 a0002c0004t0050 a0002c0004t0051 a0002c0004t0054 a0002c0004t0057 a0002c0004t0058 a0002c0005t0004 a0002c0005t0006 a0004c0007t0013	a0002c0003t0003g0162 a0002c0003t0003g0163 a0002c0003t0003g0165 others(80): Show a0002c0003t0003g0162 a0002c0003t0003g0163 a0002c0003t0003g0165 a0002c0003t0003g0167 a0002c0003t0003g0177 a0002c0003t0003g0183 a0002c0003t0003g0194 a0002c0003t0003g0195 a0002c0003t0003g0196 a0002c0003t0003g0204 a0002c0003t0003g0206 a0002c0003t0003g0207 a0002c0003t0003g0209 a0002c0003t0003g0212 a0002c0003t0003g0213 a0002c0003t0003g0216 a0002c0003t0003g0220 a0002c0003t0003g0223 a0002c0003t0003g0225 a0002c0003t0003g0226 a0002c0003t0003g0228 a0002c0003t0003g0233 a0002c0003t0003g0235 a0002c0003t0003g0238 a0002c0003t0004g0198 a0002c0003t0007g0179 a0002c0003t0007g0181 a0002c0003t0007g0199 a0002c0003t0011g0215 a0002c0003t0011g0217 a0002c0003t0011g0240 a0002c0003t0011g0241 a0002c0003t0024g0197 a0002c0003t0024g0205 a0002c0003t0036g0170 a0002c0003t0038g0244 a0002c0003t0039g0169 a0002c0003t0041g0168 a0002c0004t0003g0186 a0002c0004t0003g0227 a0002c0004t0004g0201 a0002c0004t0004g0202 a0002c0004t0004g0214 a0002c0004t0004g0219 a0002c0004t0004g0224 a0002c0004t0004g0229 a0002c0004t0007g0166 a0002c0004t0007g0218 a0002c0004t0009g0222 a0002c0004t0009g0239 a0002c0004t0012g0174 a0002c0004t0012g0175 a0002c0004t0012g0176 a0002c0004t0012g0178 a0002c0004t0013g0210 a0002c0004t0013g0236 a0002c0004t0015g0234 a0002c0004t0019g0208 a0002c0004t0021g0193 a0002c0004t0021g0232 a0002c0004t0023g0180 a0002c0004t0032g0172 a0002c0004t0037g0164 a0002c0004t0042g0211 a0002c0004t0046g0221 a0002c0004t0047g0173 a0002c0004t0048g0171 a0002c0004t0049g0237 a0002c0004t0050g0230 a0002c0004t0051g0184 a0002c0004t0054g0200 a0002c0004t0057g0243 a0002c0004t0058g0231 a0002c0005t0004g0242 a0002c0005t0006g0182 a0002c0005t0006g0185 a0002c0005t0006g0187 a0002c0005t0006g0188 a0002c0005t0006g0189 a0002c0005t0006g0190 a0002c0005t0006g0191 a0002c0005t0006g0192 a0004c0007t0013g0203	83	300	0.2767	c.64T others(2): Show c.64T>A	p.Cys others(5): Show p.Cys22Ser	AK4	ENSG00000162433.15	transcript	ENST00000327299.8	protein_coding	1/5	269/6845	64/672	22/223	chr1	TogoVar
AK4_chr1_65143203_65237145	65190776	G G	A A	missense_variant missense_variant	MODERATE	NA19011.hp1 NA19011.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0013 a0004c0007t0013	a0004c0007t0013g0203 a0004c0007t0013g0203	1	300	0.0033	c.212 others(3): Show c.212G>A	p.Arg others(5): Show p.Arg71His	AK4	ENSG00000162433.15	transcript	ENST00000327299.8	protein_coding	2/5	417/6845	212/672	71/223	chr1	TogoVar
AK4_chr1_65143203_65237145	65218862	G G	A A	missense_variant missense_variant	MODERATE	NA18982.hp1 NA18982.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0002 a0003c0008t0002	a0003c0008t0002g0104 a0003c0008t0002g0104	1	300	0.0033	c.374 others(3): Show c.374G>A	p.Arg others(6): Show p.Arg125His	AK4	ENSG00000162433.15	transcript	ENST00000327299.8	protein_coding	3/5	579/6845	374/672	125/223	chr1	TogoVar
AK5_chr1_77277019_77564966	77521909	G G	A A	missense_variant missense_variant	MODERATE	HG02451.hp1 HG02922.hp2 HG03209.hp1 others(1): Show HG02451.hp1 HG02922.hp2 HG03209.hp1 HG03516.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0008 a0003c0005t0009 a0003c0005t0008 a0003c0005t0009	a0003c0005t0008g0130 a0003c0005t0009g0005 a0003c0005t0009g0133 others(1): Show a0003c0005t0008g0130 a0003c0005t0009g0005 a0003c0005t0009g0133 a0003c0005t0009g0138	4	284	0.0141	c.139 others(4): Show c.1394G>A	p.Arg others(6): Show p.Arg465Gln	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	12/14	1689/3280	1394/1689	465/562	chr1	TogoVar
AK5_chr1_77277019_77564966	77536015	G G	A A	missense_variant missense_variant	MODERATE	NA19010.hp1 NA19010.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0215 a0004c0007t0001g0215	1	284	0.0035	c.159 others(4): Show c.1597G>A	p.Glu others(6): Show p.Glu533Lys	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	13/14	1892/3280	1597/1689	533/562	chr1	TogoVar
AK7_chr14_96387128_96494427	96398254	G G	C C	missense_variant missense_variant	MODERATE	HG06807.hp2 HG06807.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0002 a0007c0012t0002	a0007c0012t0002g0142 a0007c0012t0002g0142	1	316	0.0032	c.285 others(3): Show c.285G>C	p.Glu others(5): Show p.Glu95Asp	AK7	ENSG00000140057.9	transcript	ENST00000267584.9	protein_coding	2/18	312/3283	285/2172	95/723	chr14	TogoVar
AK7_chr14_96387128_96494427	96404767	G G	A A	missense_variant missense_variant	MODERATE	HG00544.hp2 HG00621.hp2 HG00642.hp1 others(77): Show HG00544.hp2 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00741.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01496.hp2 HG01978.hp2 HG01981.hp1 HG02027.hp1 HG02083.hp2 HG02109.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02559.hp2 HG02572.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03831.hp2 HG03834.hp2 HG04204.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18950.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18961.hp2 NA18966.hp2 NA18967.hp2 NA18970.hp1 NA18971.hp1 NA18979.hp1 NA18984.hp2 NA18990.hp2 NA19005.hp1 NA19007.hp1 NA19011.hp1 NA19055.hp1 NA19066.hp1 NA19070.hp2 NA19081.hp2 NA19091.hp2 NA20129.hp2	a0002 a0004 a0005 others(1): Show a0002 a0004 a0005 a0008	a0002c0002 a0002c0014 a0002c0016 others(4): Show a0002c0002 a0002c0014 a0002c0016 a0004c0004 a0005c0008 a0005c0013 a0008c0015	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 others(11): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0011 a0002c0014t0003 a0002c0016t0002 a0004c0004t0001 a0004c0004t0002 a0004c0004t0006 a0005c0008t0003 a0005c0013t0002 a0008c0015t0002	a0002c0002t0001g0012 a0002c0002t0001g0016 a0002c0002t0001g0019 others(77): Show a0002c0002t0001g0012 a0002c0002t0001g0016 a0002c0002t0001g0019 a0002c0002t0001g0023 a0002c0002t0001g0028 a0002c0002t0001g0039 a0002c0002t0001g0043 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0056 a0002c0002t0001g0066 a0002c0002t0001g0073 a0002c0002t0001g0095 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0128 a0002c0002t0001g0152 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0167 a0002c0002t0001g0180 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0194 a0002c0002t0001g0202 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0225 a0002c0002t0001g0242 a0002c0002t0001g0253 a0002c0002t0001g0302 a0002c0002t0001g0308 a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0088 a0002c0002t0002g0092 a0002c0002t0002g0096 a0002c0002t0002g0146 a0002c0002t0002g0149 a0002c0002t0002g0169 a0002c0002t0002g0175 a0002c0002t0002g0178 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0231 a0002c0002t0002g0245 a0002c0002t0002g0275 a0002c0002t0002g0288 a0002c0002t0002g0297 a0002c0002t0002g0306 a0002c0002t0004g0020 a0002c0002t0005g0059 a0002c0002t0005g0063 a0002c0002t0007g0298 a0002c0002t0011g0254 a0002c0014t0003g0058 a0002c0016t0002g0013 a0004c0004t0001g0070 a0004c0004t0001g0151 a0004c0004t0001g0153 a0004c0004t0001g0154 a0004c0004t0001g0155 a0004c0004t0001g0156 a0004c0004t0001g0164 a0004c0004t0001g0170 a0004c0004t0001g0293 a0004c0004t0002g0147 a0004c0004t0006g0148 a0004c0004t0006g0168 a0005c0008t0003g0074 a0005c0008t0003g0274 a0005c0013t0002g0102 a0008c0015t0002g0244	80	316	0.2532	c.305 others(3): Show c.305G>A	p.Arg others(6): Show p.Arg102Gln	AK7	ENSG00000140057.9	transcript	ENST00000267584.9	protein_coding	3/18	332/3283	305/2172	102/723	chr14	TogoVar
AK7_chr14_96387128_96494427	96408898	T T	C C	missense_variant missense_variant	MODERATE	HG00733.hp2 HG00733.hp2	a0013 a0013	a0013c0017 a0013c0017	a0013c0017t0001 a0013c0017t0001	a0013c0017t0001g0316 a0013c0017t0001g0316	1	316	0.0032	c.455 others(3): Show c.455T>C	p.Leu others(6): Show p.Leu152Pro	AK7	ENSG00000140057.9	transcript	ENST00000267584.9	protein_coding	4/18	482/3283	455/2172	152/723	chr14	TogoVar
AK7_chr14_96387128_96494427	96456401	A A	G G	missense_variant missense_variant	MODERATE	HG00642.hp2 HG01255.hp1 HG02145.hp2 others(10): Show HG00642.hp2 HG01255.hp1 HG02145.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02723.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG03579.hp1 NA20129.hp2	a0004 a0009 a0004 a0009	a0004c0004 a0009c0011 a0004c0004 a0009c0011	a0004c0004t0001 a0004c0004t0002 a0004c0004t0006 others(1): Show a0004c0004t0001 a0004c0004t0002 a0004c0004t0006 a0009c0011t0002	a0004c0004t0001g0070 a0004c0004t0001g0151 a0004c0004t0001g0153 others(10): Show a0004c0004t0001g0070 a0004c0004t0001g0151 a0004c0004t0001g0153 a0004c0004t0001g0154 a0004c0004t0001g0155 a0004c0004t0001g0156 a0004c0004t0001g0164 a0004c0004t0001g0170 a0004c0004t0001g0293 a0004c0004t0002g0147 a0004c0004t0006g0148 a0004c0004t0006g0168 a0009c0011t0002g0007	13	316	0.0411	c.115 others(4): Show c.1153A>G	p.Lys others(6): Show p.Lys385Glu	AK7	ENSG00000140057.9	transcript	ENST00000267584.9	protein_coding	11/18	1180/3283	1153/2172	385/723	chr14	TogoVar
AK7_chr14_96387128_96494427	96456415	C C	G G	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(287): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.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 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp2 NA19076.hp1 NA19076.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(7): Show a0001 a0002 a0004 a0006 a0007 a0008 a0009 a0010 a0011 a0013	a0001c0001 a0001c0006 a0001c0007 others(12): Show a0001c0001 a0001c0006 a0001c0007 a0002c0002 a0002c0014 a0002c0016 a0004c0004 a0006c0010 a0006c0021 a0007c0012 a0008c0015 a0009c0011 a0010c0020 a0011c0019 a0013c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0006t0001 a0001c0006t0002 a0001c0006t0004 a0001c0006t0006 a0001c0007t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0011 a0002c0014t0003 a0002c0016t0002 a0004c0004t0001 a0004c0004t0002 a0004c0004t0006 a0006c0010t0001 a0006c0010t0002 a0006c0021t0003 a0007c0012t0002 a0008c0015t0002 a0009c0011t0002 a0010c0020t0001 a0011c0019t0001 a0013c0017t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0014 others(287): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0150 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0257 a0001c0001t0001g0261 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0304 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0002g0031 a0001c0001t0002g0040 a0001c0001t0002g0045 a0001c0001t0002g0048 a0001c0001t0002g0057 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0075 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0123 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0157 a0001c0001t0002g0159 a0001c0001t0002g0163 a0001c0001t0002g0171 a0001c0001t0002g0190 a0001c0001t0002g0196 a0001c0001t0002g0203 a0001c0001t0002g0213 a0001c0001t0002g0219 a0001c0001t0002g0222 a0001c0001t0002g0228 a0001c0001t0002g0237 a0001c0001t0002g0248 a0001c0001t0002g0256 a0001c0001t0002g0267 a0001c0001t0002g0273 a0001c0001t0002g0276 a0001c0001t0002g0280 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0303 a0001c0001t0002g0305 a0001c0001t0002g0307 a0001c0001t0002g0310 a0001c0001t0002g0312 a0001c0001t0004g0198 a0001c0001t0004g0216 a0001c0001t0004g0268 a0001c0001t0004g0271 a0001c0001t0005g0065 a0001c0001t0005g0258 a0001c0001t0005g0265 a0001c0001t0006g0235 a0001c0001t0007g0243 a0001c0001t0007g0287 a0001c0001t0008g0279 a0001c0001t0009g0187 a0001c0001t0010g0260 a0001c0006t0001g0008 a0001c0006t0002g0011 a0001c0006t0004g0010 a0001c0006t0006g0009 a0001c0007t0003g0044 a0001c0007t0003g0119 a0001c0007t0003g0181 a0001c0007t0003g0191 a0002c0002t0001g0012 a0002c0002t0001g0016 a0002c0002t0001g0019 a0002c0002t0001g0023 a0002c0002t0001g0028 a0002c0002t0001g0039 a0002c0002t0001g0043 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0056 a0002c0002t0001g0066 a0002c0002t0001g0073 a0002c0002t0001g0095 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0128 a0002c0002t0001g0152 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0167 a0002c0002t0001g0180 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0194 a0002c0002t0001g0202 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0225 a0002c0002t0001g0242 a0002c0002t0001g0253 a0002c0002t0001g0302 a0002c0002t0001g0308 a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0088 a0002c0002t0002g0092 a0002c0002t0002g0096 a0002c0002t0002g0146 a0002c0002t0002g0149 a0002c0002t0002g0169 a0002c0002t0002g0175 a0002c0002t0002g0178 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0231 a0002c0002t0002g0245 a0002c0002t0002g0275 a0002c0002t0002g0288 a0002c0002t0002g0297 a0002c0002t0002g0306 a0002c0002t0004g0020 a0002c0002t0005g0059 a0002c0002t0005g0063 a0002c0002t0007g0298 a0002c0002t0011g0254 a0002c0014t0003g0058 a0002c0016t0002g0013 a0004c0004t0001g0070 a0004c0004t0001g0151 a0004c0004t0001g0153 a0004c0004t0001g0154 a0004c0004t0001g0155 a0004c0004t0001g0156 a0004c0004t0001g0164 a0004c0004t0001g0170 a0004c0004t0001g0293 a0004c0004t0002g0147 a0004c0004t0006g0148 a0004c0004t0006g0168 a0006c0010t0001g0049 a0006c0010t0002g0085 a0006c0021t0003g0314 a0007c0012t0002g0142 a0008c0015t0002g0244 a0009c0011t0002g0007 a0010c0020t0001g0192 a0011c0019t0001g0262 a0013c0017t0001g0316	290	316	0.9177	c.116 others(4): Show c.1167C>G	p.Asn others(6): Show p.Asn389Lys	AK7	ENSG00000140057.9	transcript	ENST00000267584.9	protein_coding	11/18	1194/3283	1167/2172	389/723	chr14	TogoVar
AK7_chr14_96387128_96494427	96456429	A A	G G	missense_variant missense_variant	MODERATE	HG00621.hp1 NA18960.hp2 NA19064.hp2 HG00621.hp1 NA18960.hp2 NA19064.hp2	a0006 a0006	a0006c0010 a0006c0021 a0006c0010 a0006c0021	a0006c0010t0001 a0006c0010t0002 a0006c0021t0003 a0006c0010t0001 a0006c0010t0002 a0006c0021t0003	a0006c0010t0001g0049 a0006c0010t0002g0085 a0006c0021t0003g0314 a0006c0010t0001g0049 a0006c0010t0002g0085 a0006c0021t0003g0314	3	316	0.0095	c.118 others(4): Show c.1181A>G	p.His others(6): Show p.His394Arg	AK7	ENSG00000140057.9	transcript	ENST00000267584.9	protein_coding	11/18	1208/3283	1181/2172	394/723	chr14	TogoVar
AK7_chr14_96387128_96494427	96478470	G G	A A	missense_variant missense_variant	MODERATE	HG03669.hp1 HG03669.hp1	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0001 a0012c0018t0001	a0012c0018t0001g0111 a0012c0018t0001g0111	1	316	0.0032	c.156 others(4): Show c.1561G>A	p.Val others(6): Show p.Val521Ile	AK7	ENSG00000140057.9	transcript	ENST00000267584.9	protein_coding	15/18	1588/3283	1561/2172	521/723	chr14	TogoVar
AK7_chr14_96387128_96494427	96478506	G G	A A	missense_variant missense_variant	MODERATE	NA18951.hp1 NA18951.hp1	a0011 a0011	a0011c0019 a0011c0019	a0011c0019t0001 a0011c0019t0001	a0011c0019t0001g0262 a0011c0019t0001g0262	1	316	0.0032	c.159 others(4): Show c.1597G>A	p.Glu others(6): Show p.Glu533Lys	AK7	ENSG00000140057.9	transcript	ENST00000267584.9	protein_coding	15/18	1624/3283	1597/2172	533/723	chr14	TogoVar
AK7_chr14_96387128_96494427	96478651	C C	T T	missense_variant missense_variant	MODERATE	HG01261.hp2 HG01261.hp2	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0002 a0008c0015t0002	a0008c0015t0002g0244 a0008c0015t0002g0244	1	316	0.0032	c.174 others(4): Show c.1742C>T	p.Pro others(6): Show p.Pro581Leu	AK7	ENSG00000140057.9	transcript	ENST00000267584.9	protein_coding	15/18	1769/3283	1742/2172	581/723	chr14	TogoVar
AK7_chr14_96387128_96494427	96483181	G G	A A	missense_variant missense_variant	MODERATE	NA19081.hp1 NA19081.hp1	a0010 a0010	a0010c0020 a0010c0020	a0010c0020t0001 a0010c0020t0001	a0010c0020t0001g0192 a0010c0020t0001g0192	1	316	0.0032	c.193 others(4): Show c.1936G>A	p.Val others(6): Show p.Val646Met	AK7	ENSG00000140057.9	transcript	ENST00000267584.9	protein_coding	16/18	1963/3283	1936/2172	646/723	chr14	TogoVar
AK8_chr9_132720578_132883284	132725700	C C	G G	missense_variant missense_variant	MODERATE	HG02572.hp2 NA20129.hp1 NA21309.hp2 HG02572.hp2 NA20129.hp1 NA21309.hp2	a0003 a0009 a0003 a0009	a0003c0005 a0009c0007 a0003c0005 a0009c0007	a0003c0005t0001 a0009c0007t0001 a0003c0005t0001 a0009c0007t0001	a0003c0005t0001g0091 a0003c0005t0001g0188 a0009c0007t0001g0006 a0003c0005t0001g0091 a0003c0005t0001g0188 a0009c0007t0001g0006	3	266	0.0113	c.142 others(4): Show c.1428G>C	p.Lys others(6): Show p.Lys476Asn	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	13/13	1457/1579	1428/1440	476/479	chr9	TogoVar
AK8_chr9_132720578_132883284	132725738	C C	G G	missense_variant missense_variant	MODERATE	HG03540.hp2 HG03540.hp2	a0010 a0010	a0010c0006 a0010c0006	a0010c0006t0001 a0010c0006t0001	a0010c0006t0001g0028 a0010c0006t0001g0028	1	266	0.0038	c.139 others(4): Show c.1390G>C	p.Glu others(6): Show p.Glu464Gln	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	13/13	1419/1579	1390/1440	464/479	chr9	TogoVar
AK8_chr9_132720578_132883284	132725782	G G	A A	missense_variant missense_variant	MODERATE	NA19030.hp2 NA19030.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0005 a0008c0008t0001g0005	1	266	0.0038	c.134 others(4): Show c.1346C>T	p.Ser others(6): Show p.Ser449Leu	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	13/13	1375/1579	1346/1440	449/479	chr9	TogoVar
AK8_chr9_132720578_132883284	132792698	G G	A A	missense_variant missense_variant	MODERATE	NA18966.hp2 NA18966.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0107 a0005c0012t0001g0107	1	266	0.0038	c.105 others(4): Show c.1057C>T	p.His others(6): Show p.His353Tyr	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	11/13	1086/1579	1057/1440	353/479	chr9	TogoVar
AK8_chr9_132720578_132883284	132814674	C C	T T	missense_variant missense_variant	MODERATE	HG03516.hp2 HG03516.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0049 a0006c0010t0001g0049	1	266	0.0038	c.943 others(3): Show c.943G>A	p.Glu others(6): Show p.Glu315Lys	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	10/13	972/1579	943/1440	315/479	chr9	TogoVar
AK8_chr9_132720578_132883284	132828063	G G	T T	missense_variant missense_variant	MODERATE	HG02055.hp1 HG02055.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0265 a0004c0009t0001g0265	1	266	0.0038	c.506 others(3): Show c.506C>A	p.Thr others(6): Show p.Thr169Lys	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	7/13	535/1579	506/1440	169/479	chr9	TogoVar
AK8_chr9_132720578_132883284	132854912	G G	C C	missense_variant missense_variant	MODERATE	HG01978.hp1 HG01978.hp1	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0001 a0007c0013t0001	a0007c0013t0001g0118 a0007c0013t0001g0118	1	266	0.0038	c.347 others(3): Show c.347C>G	p.Ala others(6): Show p.Ala116Gly	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	5/13	376/1579	347/1440	116/479	chr9	TogoVar
AK8_chr9_132720578_132883284	132878242	A A	G G	missense_variant missense_variant	MODERATE	HG01081.hp2 HG01106.hp1 HG01891.hp2 others(30): Show HG01081.hp2 HG01106.hp1 HG01891.hp2 HG02145.hp2 HG02258.hp2 HG02451.hp1 HG02647.hp1 HG02723.hp1 HG02809.hp1 HG02895.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 NA18522.hp1 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19240.hp1 NA20300.hp2 NA21309.hp2	a0002 a0008 a0009 others(1): Show a0002 a0008 a0009 a0010	a0002c0002 a0002c0003 a0008c0008 others(2): Show a0002c0002 a0002c0003 a0008c0008 a0009c0007 a0010c0006	a0002c0002t0001 a0002c0002t0002 a0002c0003t0001 others(3): Show a0002c0002t0001 a0002c0002t0002 a0002c0003t0001 a0008c0008t0001 a0009c0007t0001 a0010c0006t0001	a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 others(30): Show a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0020 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0027 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0021 a0002c0002t0002g0026 a0002c0003t0001g0014 a0002c0003t0001g0017 a0002c0003t0001g0022 a0002c0003t0001g0023 a0008c0008t0001g0005 a0009c0007t0001g0006 a0010c0006t0001g0028	33	266	0.1241	c.14T others(2): Show c.14T>C	p.Ile others(4): Show p.Ile5Thr	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	1/13	43/1579	14/1440	5/479	chr9	TogoVar
AK9_chr6_109487855_109696202	109506403	C C	A A	missense_variant missense_variant	MODERATE	HG03453.hp1 NA18906.hp2 NA19043.hp2 HG03453.hp1 NA18906.hp2 NA19043.hp2	a0012 a0012	a0012c0017 a0012c0032 a0012c0017 a0012c0032	a0012c0017t0001 a0012c0032t0001 a0012c0017t0001 a0012c0032t0001	a0012c0017t0001g0025 a0012c0017t0001g0026 a0012c0032t0001g0086 a0012c0017t0001g0025 a0012c0017t0001g0026 a0012c0032t0001g0086	3	378	0.0079	c.477 others(4): Show c.4773G>T	p.Trp others(7): Show p.Trp1591Cys	AK9	ENSG00000155085.16	transcript	ENST00000424296.7	protein_coding	35/41	4840/6317	4773/5736	1591/1911	chr6	TogoVar
AK9_chr6_109487855_109696202	109506513	C C	T T	missense_variant missense_variant	MODERATE	HG00280.hp1 HG00408.hp1 HG00438.hp2 others(137): Show HG00280.hp1 HG00408.hp1 HG00438.hp2 HG00609.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01070.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01175.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01952.hp1 HG01978.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02273.hp1 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02615.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp2 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp2 HG03017.hp1 HG03130.hp2 HG03139.hp1 HG03239.hp1 HG03453.hp1 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04204.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp1 NA18944.hp1 NA18946.hp1 NA18947.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp1 NA18975.hp2 NA18982.hp1 NA18983.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18991.hp1 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19006.hp1 NA19009.hp2 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp2 NA19068.hp1 NA19072.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2	a0003 a0004 a0006 others(5): Show a0003 a0004 a0006 a0008 a0012 a0013 a0016 a0017	a0003c0003 a0004c0004 a0006c0006 others(6): Show a0003c0003 a0004c0004 a0006c0006 a0008c0012 a0012c0017 a0012c0032 a0013c0029 a0016c0020 a0017c0021	a0003c0003t0001 a0004c0004t0001 a0006c0006t0003 others(6): Show a0003c0003t0001 a0004c0004t0001 a0006c0006t0003 a0008c0012t0004 a0012c0017t0001 a0012c0032t0001 a0013c0029t0001 a0016c0020t0001 a0017c0021t0001	a0003c0003t0001g0020 a0003c0003t0001g0021 a0003c0003t0001g0022 others(137): Show a0003c0003t0001g0020 a0003c0003t0001g0021 a0003c0003t0001g0022 a0003c0003t0001g0023 a0003c0003t0001g0157 a0003c0003t0001g0158 a0003c0003t0001g0159 a0003c0003t0001g0160 a0003c0003t0001g0161 a0003c0003t0001g0162 a0003c0003t0001g0163 a0003c0003t0001g0164 a0003c0003t0001g0168 a0003c0003t0001g0169 a0003c0003t0001g0170 a0003c0003t0001g0171 a0003c0003t0001g0172 a0003c0003t0001g0175 a0003c0003t0001g0176 a0003c0003t0001g0180 a0003c0003t0001g0186 a0003c0003t0001g0187 a0003c0003t0001g0188 a0003c0003t0001g0189 a0003c0003t0001g0191 a0003c0003t0001g0192 a0003c0003t0001g0193 a0003c0003t0001g0194 a0003c0003t0001g0195 a0003c0003t0001g0196 a0003c0003t0001g0197 a0003c0003t0001g0198 a0003c0003t0001g0204 a0003c0003t0001g0205 a0003c0003t0001g0206 a0003c0003t0001g0207 a0003c0003t0001g0208 a0003c0003t0001g0209 a0003c0003t0001g0210 a0003c0003t0001g0211 a0003c0003t0001g0212 a0003c0003t0001g0213 a0003c0003t0001g0214 a0003c0003t0001g0215 a0003c0003t0001g0216 a0003c0003t0001g0217 a0003c0003t0001g0218 a0003c0003t0001g0219 a0003c0003t0001g0220 a0003c0003t0001g0221 a0003c0003t0001g0223 a0003c0003t0001g0224 a0003c0003t0001g0225 a0003c0003t0001g0227 a0003c0003t0001g0236 a0003c0003t0001g0238 a0003c0003t0001g0244 a0003c0003t0001g0375 a0004c0004t0001g0091 a0004c0004t0001g0092 a0004c0004t0001g0093 a0004c0004t0001g0094 a0004c0004t0001g0095 a0004c0004t0001g0096 a0004c0004t0001g0097 a0004c0004t0001g0098 a0004c0004t0001g0099 a0004c0004t0001g0100 a0004c0004t0001g0101 a0004c0004t0001g0102 a0004c0004t0001g0103 a0004c0004t0001g0104 a0004c0004t0001g0105 a0004c0004t0001g0106 a0004c0004t0001g0107 a0004c0004t0001g0165 a0004c0004t0001g0166 a0004c0004t0001g0167 a0004c0004t0001g0173 a0004c0004t0001g0177 a0004c0004t0001g0178 a0004c0004t0001g0179 a0004c0004t0001g0181 a0004c0004t0001g0182 a0004c0004t0001g0183 a0004c0004t0001g0184 a0004c0004t0001g0185 a0004c0004t0001g0199 a0004c0004t0001g0200 a0004c0004t0001g0201 a0004c0004t0001g0202 a0004c0004t0001g0203 a0004c0004t0001g0222 a0004c0004t0001g0228 a0004c0004t0001g0229 a0004c0004t0001g0230 a0004c0004t0001g0231 a0004c0004t0001g0232 a0004c0004t0001g0233 a0004c0004t0001g0234 a0004c0004t0001g0235 a0004c0004t0001g0237 a0004c0004t0001g0239 a0004c0004t0001g0240 a0004c0004t0001g0241 a0004c0004t0001g0242 a0004c0004t0001g0243 a0004c0004t0001g0245 a0004c0004t0001g0246 a0004c0004t0001g0247 a0004c0004t0001g0248 a0004c0004t0001g0249 a0004c0004t0001g0250 a0004c0004t0001g0251 a0004c0004t0001g0252 a0006c0006t0003g0005 a0006c0006t0003g0006 a0006c0006t0003g0007 a0006c0006t0003g0008 a0006c0006t0003g0009 a0006c0006t0003g0010 a0006c0006t0003g0011 a0006c0006t0003g0012 a0006c0006t0003g0013 a0006c0006t0003g0014 a0006c0006t0003g0015 a0006c0006t0003g0016 a0006c0006t0003g0017 a0006c0006t0003g0018 a0006c0006t0003g0019 a0006c0006t0003g0174 a0008c0012t0004g0144 a0008c0012t0004g0145 a0008c0012t0004g0291 a0012c0017t0001g0025 a0012c0017t0001g0026 a0012c0032t0001g0086 a0013c0029t0001g0226 a0016c0020t0001g0269 a0017c0021t0001g0190	140	378	0.3704	c.466 others(4): Show c.4663G>A	p.Val others(7): Show p.Val1555Ile	AK9	ENSG00000155085.16	transcript	ENST00000424296.7	protein_coding	35/41	4730/6317	4663/5736	1555/1911	chr6	TogoVar
AK9_chr6_109487855_109696202	109509213	G G	T T	missense_variant missense_variant	MODERATE	HG01081.hp2 HG01081.hp2	a0018 a0018	a0018c0022 a0018c0022	a0018c0022t0002 a0018c0022t0002	a0018c0022t0002g0123 a0018c0022t0002g0123	1	378	0.0027	c.444 others(4): Show c.4447C>A	p.Leu others(7): Show p.Leu1483Ile	AK9	ENSG00000155085.16	transcript	ENST00000424296.7	protein_coding	33/41	4514/6317	4447/5736	1483/1911	chr6	TogoVar
AK9_chr6_109487855_109696202	109509344	T T	A A	missense_variant missense_variant	MODERATE	HG02135.hp2 NA18975.hp1 NA19056.hp2 HG02135.hp2 NA18975.hp1 NA19056.hp2	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0002 a0010c0014t0002	a0010c0014t0002g0316 a0010c0014t0002g0317 a0010c0014t0002g0318 a0010c0014t0002g0316 a0010c0014t0002g0317 a0010c0014t0002g0318	3	378	0.0079	c.431 others(4): Show c.4316A>T	p.His others(7): Show p.His1439Leu	AK9	ENSG00000155085.16	transcript	ENST00000424296.7	protein_coding	33/41	4383/6317	4316/5736	1439/1911	chr6	TogoVar
AK9_chr6_109487855_109696202	109514245	G G	A A	missense_variant missense_variant	MODERATE	HG02015.hp1 HG02015.hp1	a0015 a0015	a0015c0019 a0015c0019	a0015c0019t0001 a0015c0019t0001	a0015c0019t0001g0253 a0015c0019t0001g0253	1	378	0.0027	c.425 others(4): Show c.4258C>T	p.Pro others(7): Show p.Pro1420Ser	AK9	ENSG00000155085.16	transcript	ENST00000424296.7	protein_coding	32/41	4325/6317	4258/5736	1420/1911	chr6	TogoVar
AK9_chr6_109487855_109696202	109516026	C C	T T	missense_variant missense_variant	MODERATE	HG00323.hp1 HG00544.hp1 HG01255.hp2 others(35): Show HG00323.hp1 HG00544.hp1 HG01255.hp2 HG01934.hp2 HG01943.hp1 HG01975.hp2 HG02015.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp2 HG02293.hp2 HG02615.hp1 HG02630.hp1 HG02683.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp2 HG03579.hp2 HG03942.hp2 NA18612.hp2 NA18939.hp2 NA18944.hp2 NA18950.hp2 NA18951.hp2 NA18955.hp2 NA18991.hp2 NA18992.hp2 NA18998.hp2 NA19004.hp2 NA19007.hp2 NA19056.hp1 NA19063.hp1 NA19065.hp2 NA19070.hp2 NA19080.hp2 NA19082.hp1 NA19088.hp1 NA20905.hp1	a0005 a0015 a0022 a0005 a0015 a0022	a0005c0005 a0015c0019 a0022c0031 a0005c0005 a0015c0019 a0022c0031	a0005c0005t0001 a0015c0019t0001 a0022c0031t0001 a0005c0005t0001 a0015c0019t0001 a0022c0031t0001	a0005c0005t0001g0001 a0005c0005t0001g0254 a0005c0005t0001g0255 others(34): Show a0005c0005t0001g0001 a0005c0005t0001g0254 a0005c0005t0001g0255 a0005c0005t0001g0256 a0005c0005t0001g0257 a0005c0005t0001g0258 a0005c0005t0001g0259 a0005c0005t0001g0260 a0005c0005t0001g0261 a0005c0005t0001g0262 a0005c0005t0001g0263 a0005c0005t0001g0264 a0005c0005t0001g0265 a0005c0005t0001g0266 a0005c0005t0001g0267 a0005c0005t0001g0268 a0005c0005t0001g0270 a0005c0005t0001g0271 a0005c0005t0001g0272 a0005c0005t0001g0273 a0005c0005t0001g0274 a0005c0005t0001g0275 a0005c0005t0001g0276 a0005c0005t0001g0277 a0005c0005t0001g0278 a0005c0005t0001g0279 a0005c0005t0001g0280 a0005c0005t0001g0281 a0005c0005t0001g0282 a0005c0005t0001g0283 a0005c0005t0001g0284 a0005c0005t0001g0285 a0005c0005t0001g0286 a0005c0005t0001g0287 a0005c0005t0001g0288 a0015c0019t0001g0253 a0022c0031t0001g0024	38	378	0.1005	c.389 others(4): Show c.3896G>A	p.Arg others(7): Show p.Arg1299Gln	AK9	ENSG00000155085.16	transcript	ENST00000424296.7	protein_coding	31/41	3963/6317	3896/5736	1299/1911	chr6	TogoVar
AK9_chr6_109487855_109696202	109563688	T T	A A	missense_variant missense_variant	MODERATE	HG03704.hp2 HG03704.hp2	a0017 a0017	a0017c0021 a0017c0021	a0017c0021t0001 a0017c0021t0001	a0017c0021t0001g0190 a0017c0021t0001g0190	1	378	0.0027	c.266 others(4): Show c.2660A>T	p.Glu others(6): Show p.Glu887Val	AK9	ENSG00000155085.16	transcript	ENST00000424296.7	protein_coding	24/41	2727/6317	2660/5736	887/1911	chr6	TogoVar
AK9_chr6_109487855_109696202	109564193	A A	G G	missense_variant missense_variant	MODERATE	HG01081.hp2 HG01993.hp2 NA18966.hp2 others(1): Show HG01081.hp2 HG01993.hp2 NA18966.hp2 NA18983.hp2	a0009 a0018 a0009 a0018	a0009c0011 a0018c0022 a0009c0011 a0018c0022	a0009c0011t0002 a0018c0022t0002 a0009c0011t0002 a0018c0022t0002	a0009c0011t0002g0114 a0009c0011t0002g0121 a0009c0011t0002g0124 others(1): Show a0009c0011t0002g0114 a0009c0011t0002g0121 a0009c0011t0002g0124 a0018c0022t0002g0123	4	378	0.0106	c.252 others(4): Show c.2522T>C	p.Leu others(6): Show p.Leu841Pro	AK9	ENSG00000155085.16	transcript	ENST00000424296.7	protein_coding	23/41	2589/6317	2522/5736	841/1911	chr6	TogoVar
AK9_chr6_109487855_109696202	109564272	G G	A A	missense_variant missense_variant	MODERATE	HG00280.hp1 HG00408.hp1 HG00438.hp2 others(54): Show HG00280.hp1 HG00408.hp1 HG00438.hp2 HG00609.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01070.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01261.hp2 HG01433.hp1 HG01515.hp2 HG01517.hp1 HG02055.hp2 HG02165.hp1 HG02258.hp1 HG02486.hp1 HG02523.hp2 HG02717.hp2 HG03139.hp1 HG03490.hp1 HG03492.hp2 HG03710.hp2 HG04184.hp1 NA18747.hp1 NA18939.hp1 NA18942.hp1 NA18944.hp1 NA18946.hp1 NA18950.hp1 NA18951.hp1 NA18957.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp2 NA18968.hp2 NA18972.hp2 NA18974.hp1 NA18985.hp2 NA18986.hp1 NA18991.hp1 NA18992.hp1 NA18995.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19006.hp1 NA19009.hp2 NA19054.hp2 NA19080.hp1 NA20752.hp2 NA20805.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0091 a0004c0004t0001g0092 a0004c0004t0001g0093 others(54): Show a0004c0004t0001g0091 a0004c0004t0001g0092 a0004c0004t0001g0093 a0004c0004t0001g0094 a0004c0004t0001g0095 a0004c0004t0001g0096 a0004c0004t0001g0097 a0004c0004t0001g0098 a0004c0004t0001g0099 a0004c0004t0001g0100 a0004c0004t0001g0101 a0004c0004t0001g0102 a0004c0004t0001g0103 a0004c0004t0001g0104 a0004c0004t0001g0105 a0004c0004t0001g0106 a0004c0004t0001g0107 a0004c0004t0001g0165 a0004c0004t0001g0166 a0004c0004t0001g0167 a0004c0004t0001g0173 a0004c0004t0001g0177 a0004c0004t0001g0178 a0004c0004t0001g0179 a0004c0004t0001g0181 a0004c0004t0001g0182 a0004c0004t0001g0183 a0004c0004t0001g0184 a0004c0004t0001g0185 a0004c0004t0001g0199 a0004c0004t0001g0200 a0004c0004t0001g0201 a0004c0004t0001g0202 a0004c0004t0001g0203 a0004c0004t0001g0222 a0004c0004t0001g0228 a0004c0004t0001g0229 a0004c0004t0001g0230 a0004c0004t0001g0231 a0004c0004t0001g0232 a0004c0004t0001g0233 a0004c0004t0001g0234 a0004c0004t0001g0235 a0004c0004t0001g0237 a0004c0004t0001g0239 a0004c0004t0001g0240 a0004c0004t0001g0241 a0004c0004t0001g0242 a0004c0004t0001g0243 a0004c0004t0001g0245 a0004c0004t0001g0246 a0004c0004t0001g0247 a0004c0004t0001g0248 a0004c0004t0001g0249 a0004c0004t0001g0250 a0004c0004t0001g0251 a0004c0004t0001g0252	57	378	0.1508	c.244 others(4): Show c.2443C>T	p.Pro others(6): Show p.Pro815Ser	AK9	ENSG00000155085.16	transcript	ENST00000424296.7	protein_coding	23/41	2510/6317	2443/5736	815/1911	chr6	TogoVar
AK9_chr6_109487855_109696202	109564798	C C	T T	missense_variant missense_variant	MODERATE	HG02145.hp1 HG02922.hp1 HG03041.hp2 HG02145.hp1 HG02922.hp1 HG03041.hp2	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0001 a0011c0013t0001	a0011c0013t0001g0030 a0011c0013t0001g0089 a0011c0013t0001g0090 a0011c0013t0001g0030 a0011c0013t0001g0089 a0011c0013t0001g0090	3	378	0.0079	c.239 others(4): Show c.2392G>A	p.Gly others(6): Show p.Gly798Arg	AK9	ENSG00000155085.16	transcript	ENST00000424296.7	protein_coding	22/41	2459/6317	2392/5736	798/1911	chr6	TogoVar
AK9_chr6_109487855_109696202	109564831	C C	T T	missense_variant missense_variant	MODERATE	HG04184.hp2 HG04184.hp2	a0019 a0019	a0019c0024 a0019c0024	a0019c0024t0002 a0019c0024t0002	a0019c0024t0002g0349 a0019c0024t0002g0349	1	378	0.0027	c.235 others(4): Show c.2359G>A	p.Glu others(6): Show p.Glu787Lys	AK9	ENSG00000155085.16	transcript	ENST00000424296.7	protein_coding	22/41	2426/6317	2359/5736	787/1911	chr6	TogoVar
AK9_chr6_109487855_109696202	109573570	T T	A A	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00280.hp2 HG00323.hp2 others(92): Show HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00738.hp2 HG00741.hp1 HG01106.hp1 HG01169.hp1 HG01175.hp1 HG01243.hp2 HG01255.hp1 HG01258.hp2 HG01358.hp2 HG01496.hp1 HG01515.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01993.hp1 HG02015.hp2 HG02071.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02293.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02572.hp2 HG02622.hp2 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02886.hp2 HG02922.hp1 HG03017.hp2 HG03041.hp2 HG03225.hp1 HG03239.hp2 HG03490.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18747.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18949.hp1 NA18953.hp2 NA18957.hp2 NA18959.hp2 NA18961.hp1 NA18963.hp1 NA18967.hp2 NA18969.hp2 NA18972.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18982.hp2 NA18985.hp1 NA18999.hp1 NA19002.hp1 NA19004.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19056.hp2 NA19065.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp2 NA19074.hp1 NA19079.hp1 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp2 NA20805.hp1	a0002 a0010 a0011 others(2): Show a0002 a0010 a0011 a0019 a0020	a0002c0001 a0002c0010 a0002c0016 others(7): Show a0002c0001 a0002c0010 a0002c0016 a0002c0025 a0002c0026 a0002c0028 a0010c0014 a0011c0013 a0019c0024 a0020c0027	a0002c0001t0001 a0002c0001t0002 a0002c0010t0001 others(8): Show a0002c0001t0001 a0002c0001t0002 a0002c0010t0001 a0002c0016t0002 a0002c0025t0002 a0002c0026t0002 a0002c0028t0002 a0010c0014t0002 a0011c0013t0001 a0019c0024t0002 a0020c0027t0002	a0002c0001t0001g0289 a0002c0001t0001g0290 a0002c0001t0002g0002 others(90): Show a0002c0001t0001g0289 a0002c0001t0001g0290 a0002c0001t0002g0002 a0002c0001t0002g0003 a0002c0001t0002g0293 a0002c0001t0002g0294 a0002c0001t0002g0295 a0002c0001t0002g0296 a0002c0001t0002g0297 a0002c0001t0002g0298 a0002c0001t0002g0299 a0002c0001t0002g0300 a0002c0001t0002g0301 a0002c0001t0002g0302 a0002c0001t0002g0303 a0002c0001t0002g0304 a0002c0001t0002g0305 a0002c0001t0002g0307 a0002c0001t0002g0308 a0002c0001t0002g0309 a0002c0001t0002g0310 a0002c0001t0002g0311 a0002c0001t0002g0312 a0002c0001t0002g0313 a0002c0001t0002g0314 a0002c0001t0002g0319 a0002c0001t0002g0320 a0002c0001t0002g0321 a0002c0001t0002g0322 a0002c0001t0002g0323 a0002c0001t0002g0324 a0002c0001t0002g0325 a0002c0001t0002g0326 a0002c0001t0002g0327 a0002c0001t0002g0328 a0002c0001t0002g0329 a0002c0001t0002g0330 a0002c0001t0002g0331 a0002c0001t0002g0332 a0002c0001t0002g0333 a0002c0001t0002g0334 a0002c0001t0002g0335 a0002c0001t0002g0336 a0002c0001t0002g0337 a0002c0001t0002g0338 a0002c0001t0002g0339 a0002c0001t0002g0340 a0002c0001t0002g0341 a0002c0001t0002g0342 a0002c0001t0002g0343 a0002c0001t0002g0344 a0002c0001t0002g0345 a0002c0001t0002g0346 a0002c0001t0002g0347 a0002c0001t0002g0348 a0002c0001t0002g0350 a0002c0001t0002g0351 a0002c0001t0002g0352 a0002c0001t0002g0354 a0002c0001t0002g0355 a0002c0001t0002g0356 a0002c0001t0002g0357 a0002c0001t0002g0358 a0002c0001t0002g0361 a0002c0001t0002g0363 a0002c0001t0002g0364 a0002c0001t0002g0365 a0002c0001t0002g0366 a0002c0001t0002g0367 a0002c0001t0002g0368 a0002c0001t0002g0369 a0002c0001t0002g0370 a0002c0001t0002g0371 a0002c0001t0002g0372 a0002c0001t0002g0373 a0002c0001t0002g0374 a0002c0010t0001g0027 a0002c0010t0001g0028 a0002c0010t0001g0029 a0002c0010t0001g0031 a0002c0016t0002g0353 a0002c0016t0002g0362 a0002c0025t0002g0306 a0002c0026t0002g0359 a0002c0028t0002g0315 a0010c0014t0002g0316 a0010c0014t0002g0317 a0010c0014t0002g0318 a0011c0013t0001g0030 a0011c0013t0001g0089 a0011c0013t0001g0090 a0019c0024t0002g0349 a0020c0027t0002g0292	95	378	0.2513	c.221 others(4): Show c.2216A>T	p.Asp others(6): Show p.Asp739Val	AK9	ENSG00000155085.16	transcript	ENST00000424296.7	protein_coding	21/41	2283/6317	2216/5736	739/1911	chr6	TogoVar
AK9_chr6_109487855_109696202	109579562	C C	A A	missense_variant missense_variant	MODERATE	HG01256.hp1 HG01258.hp1 HG01346.hp1 others(13): Show HG01256.hp1 HG01258.hp1 HG01346.hp1 HG01361.hp1 HG01516.hp1 HG01517.hp2 HG01978.hp2 HG02615.hp2 HG02647.hp1 HG02683.hp1 HG03704.hp1 NA18949.hp2 NA18975.hp2 NA18994.hp2 NA19058.hp1 NA20300.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0003 a0006c0006t0003	a0006c0006t0003g0005 a0006c0006t0003g0006 a0006c0006t0003g0007 others(13): Show a0006c0006t0003g0005 a0006c0006t0003g0006 a0006c0006t0003g0007 a0006c0006t0003g0008 a0006c0006t0003g0009 a0006c0006t0003g0010 a0006c0006t0003g0011 a0006c0006t0003g0012 a0006c0006t0003g0013 a0006c0006t0003g0014 a0006c0006t0003g0015 a0006c0006t0003g0016 a0006c0006t0003g0017 a0006c0006t0003g0018 a0006c0006t0003g0019 a0006c0006t0003g0174	16	378	0.0423	c.217 others(4): Show c.2179G>T	p.Val others(6): Show p.Val727Leu	AK9	ENSG00000155085.16	transcript	ENST00000424296.7	protein_coding	20/41	2246/6317	2179/5736	727/1911	chr6	TogoVar
AK9_chr6_109487855_109696202	109585129	T T	G G	missense_variant missense_variant	MODERATE	HG02895.hp1 HG02897.hp1 NA19240.hp2 HG02895.hp1 HG02897.hp1 NA19240.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0004 a0008c0012t0004	a0008c0012t0004g0144 a0008c0012t0004g0145 a0008c0012t0004g0291 a0008c0012t0004g0144 a0008c0012t0004g0145 a0008c0012t0004g0291	3	378	0.0079	c.210 others(4): Show c.2108A>C	p.Glu others(6): Show p.Glu703Ala	AK9	ENSG00000155085.16	transcript	ENST00000424296.7	protein_coding	19/41	2175/6317	2108/5736	703/1911	chr6	TogoVar
AK9_chr6_109487855_109696202	109614250	G G	C C	missense_variant missense_variant	MODERATE	HG02280.hp1 HG02559.hp1 HG03453.hp2 others(2): Show HG02280.hp1 HG02559.hp1 HG03453.hp2 HG03540.hp2 NA18906.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0083 a0007c0009t0001g0084 a0007c0009t0001g0085 others(2): Show a0007c0009t0001g0083 a0007c0009t0001g0084 a0007c0009t0001g0085 a0007c0009t0001g0087 a0007c0009t0001g0088	5	378	0.0132	c.154 others(4): Show c.1542C>G	p.Asp others(6): Show p.Asp514Glu	AK9	ENSG00000155085.16	transcript	ENST00000424296.7	protein_coding	15/41	1609/6317	1542/5736	514/1911	chr6	TogoVar
AK9_chr6_109487855_109696202	109614281	G G	A A	missense_variant missense_variant	MODERATE	HG00323.hp1 HG00544.hp1 HG01255.hp2 others(35): Show HG00323.hp1 HG00544.hp1 HG01255.hp2 HG01934.hp2 HG01943.hp1 HG01975.hp2 HG02015.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp2 HG02293.hp2 HG02615.hp1 HG02630.hp1 HG02683.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp2 HG03942.hp2 NA18612.hp2 NA18939.hp2 NA18944.hp2 NA18950.hp2 NA18951.hp2 NA18955.hp2 NA18991.hp2 NA18992.hp2 NA18998.hp2 NA19004.hp2 NA19007.hp2 NA19056.hp1 NA19058.hp2 NA19063.hp1 NA19065.hp2 NA19070.hp2 NA19080.hp2 NA19082.hp1 NA19088.hp1 NA20905.hp1	a0005 a0015 a0016 a0005 a0015 a0016	a0005c0005 a0015c0019 a0016c0020 a0005c0005 a0015c0019 a0016c0020	a0005c0005t0001 a0015c0019t0001 a0016c0020t0001 a0005c0005t0001 a0015c0019t0001 a0016c0020t0001	a0005c0005t0001g0001 a0005c0005t0001g0254 a0005c0005t0001g0255 others(34): Show a0005c0005t0001g0001 a0005c0005t0001g0254 a0005c0005t0001g0255 a0005c0005t0001g0256 a0005c0005t0001g0257 a0005c0005t0001g0258 a0005c0005t0001g0259 a0005c0005t0001g0260 a0005c0005t0001g0261 a0005c0005t0001g0262 a0005c0005t0001g0263 a0005c0005t0001g0264 a0005c0005t0001g0265 a0005c0005t0001g0266 a0005c0005t0001g0267 a0005c0005t0001g0268 a0005c0005t0001g0270 a0005c0005t0001g0271 a0005c0005t0001g0272 a0005c0005t0001g0273 a0005c0005t0001g0274 a0005c0005t0001g0275 a0005c0005t0001g0276 a0005c0005t0001g0277 a0005c0005t0001g0278 a0005c0005t0001g0279 a0005c0005t0001g0280 a0005c0005t0001g0281 a0005c0005t0001g0282 a0005c0005t0001g0283 a0005c0005t0001g0284 a0005c0005t0001g0285 a0005c0005t0001g0286 a0005c0005t0001g0287 a0005c0005t0001g0288 a0015c0019t0001g0253 a0016c0020t0001g0269	38	378	0.1005	c.151 others(4): Show c.1511C>T	p.Ser others(6): Show p.Ser504Phe	AK9	ENSG00000155085.16	transcript	ENST00000424296.7	protein_coding	15/41	1578/6317	1511/5736	504/1911	chr6	TogoVar
AK9_chr6_109487855_109696202	109614403	A A	G G	missense_variant missense_variant	MODERATE	HG00323.hp1 HG00544.hp1 HG01255.hp2 others(35): Show HG00323.hp1 HG00544.hp1 HG01255.hp2 HG01934.hp2 HG01943.hp1 HG01975.hp2 HG02015.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp2 HG02293.hp2 HG02615.hp1 HG02630.hp1 HG02683.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp2 HG03942.hp2 NA18612.hp2 NA18939.hp2 NA18944.hp2 NA18950.hp2 NA18951.hp2 NA18955.hp2 NA18991.hp2 NA18992.hp2 NA18998.hp2 NA19004.hp2 NA19007.hp2 NA19056.hp1 NA19058.hp2 NA19063.hp1 NA19065.hp2 NA19070.hp2 NA19080.hp2 NA19082.hp1 NA19088.hp1 NA20905.hp1	a0005 a0015 a0016 a0005 a0015 a0016	a0005c0005 a0015c0019 a0016c0020 a0005c0005 a0015c0019 a0016c0020	a0005c0005t0001 a0015c0019t0001 a0016c0020t0001 a0005c0005t0001 a0015c0019t0001 a0016c0020t0001	a0005c0005t0001g0001 a0005c0005t0001g0254 a0005c0005t0001g0255 others(34): Show a0005c0005t0001g0001 a0005c0005t0001g0254 a0005c0005t0001g0255 a0005c0005t0001g0256 a0005c0005t0001g0257 a0005c0005t0001g0258 a0005c0005t0001g0259 a0005c0005t0001g0260 a0005c0005t0001g0261 a0005c0005t0001g0262 a0005c0005t0001g0263 a0005c0005t0001g0264 a0005c0005t0001g0265 a0005c0005t0001g0266 a0005c0005t0001g0267 a0005c0005t0001g0268 a0005c0005t0001g0270 a0005c0005t0001g0271 a0005c0005t0001g0272 a0005c0005t0001g0273 a0005c0005t0001g0274 a0005c0005t0001g0275 a0005c0005t0001g0276 a0005c0005t0001g0277 a0005c0005t0001g0278 a0005c0005t0001g0279 a0005c0005t0001g0280 a0005c0005t0001g0281 a0005c0005t0001g0282 a0005c0005t0001g0283 a0005c0005t0001g0284 a0005c0005t0001g0285 a0005c0005t0001g0286 a0005c0005t0001g0287 a0005c0005t0001g0288 a0015c0019t0001g0253 a0016c0020t0001g0269	38	378	0.1005	c.147 others(4): Show c.1477T>C	p.Ser others(6): Show p.Ser493Pro	AK9	ENSG00000155085.16	transcript	ENST00000424296.7	protein_coding	14/41	1544/6317	1477/5736	493/1911	chr6	TogoVar
AK9_chr6_109487855_109696202	109632942	G G	A A	missense_variant missense_variant	MODERATE	HG01175.hp1 HG01175.hp1	a0020 a0020	a0020c0027 a0020c0027	a0020c0027t0002 a0020c0027t0002	a0020c0027t0002g0292 a0020c0027t0002g0292	1	378	0.0027	c.123 others(4): Show c.1235C>T	p.Ala others(6): Show p.Ala412Val	AK9	ENSG00000155085.16	transcript	ENST00000424296.7	protein_coding	12/41	1302/6317	1235/5736	412/1911	chr6	TogoVar
AK9_chr6_109487855_109696202	109633295	T T	C C	missense_variant missense_variant	MODERATE	HG02280.hp1 HG02559.hp1 HG03453.hp2 others(2): Show HG02280.hp1 HG02559.hp1 HG03453.hp2 HG03540.hp2 NA18906.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0083 a0007c0009t0001g0084 a0007c0009t0001g0085 others(2): Show a0007c0009t0001g0083 a0007c0009t0001g0084 a0007c0009t0001g0085 a0007c0009t0001g0087 a0007c0009t0001g0088	5	378	0.0132	c.962 others(3): Show c.962A>G	p.Tyr others(6): Show p.Tyr321Cys	AK9	ENSG00000155085.16	transcript	ENST00000424296.7	protein_coding	11/41	1029/6317	962/5736	321/1911	chr6	TogoVar
AK9_chr6_109487855_109696202	109641603	C C	T T	missense_variant missense_variant	MODERATE	HG01891.hp1 HG01891.hp1	a0014 a0014	a0014c0018 a0014c0018	a0014c0018t0002 a0014c0018t0002	a0014c0018t0002g0113 a0014c0018t0002g0113	1	378	0.0027	c.848 others(3): Show c.848G>A	p.Arg others(6): Show p.Arg283Gln	AK9	ENSG00000155085.16	transcript	ENST00000424296.7	protein_coding	10/41	915/6317	848/5736	283/1911	chr6	TogoVar
AK9_chr6_109487855_109696202	109656776	T T	C C	missense_variant missense_variant	MODERATE	NA18968.hp1 NA18968.hp1	a0013 a0013	a0013c0029 a0013c0029	a0013c0029t0001 a0013c0029t0001	a0013c0029t0001g0226 a0013c0029t0001g0226	1	378	0.0027	c.739 others(3): Show c.739A>G	p.Thr others(6): Show p.Thr247Ala	AK9	ENSG00000155085.16	transcript	ENST00000424296.7	protein_coding	8/41	806/6317	739/5736	247/1911	chr6	TogoVar
AK9_chr6_109487855_109696202	109659329	C C	A A	missense_variant missense_variant	MODERATE	NA19054.hp1 NA19054.hp1	a0021 a0021	a0021c0030 a0021c0030	a0021c0030t0002 a0021c0030t0002	a0021c0030t0002g0142 a0021c0030t0002g0142	1	378	0.0027	c.529 others(3): Show c.529G>T	p.Asp others(6): Show p.Asp177Tyr	AK9	ENSG00000155085.16	transcript	ENST00000424296.7	protein_coding	7/41	596/6317	529/5736	177/1911	chr6	TogoVar
AK9_chr6_109487855_109696202	109671967	T T	A A	missense_variant missense_variant	MODERATE	HG02280.hp1 HG02559.hp1 HG03453.hp1 others(6): Show HG02280.hp1 HG02559.hp1 HG03453.hp1 HG03453.hp2 HG03540.hp2 HG03579.hp2 NA18906.hp1 NA18906.hp2 NA19043.hp2	a0007 a0012 a0022 a0007 a0012 a0022	a0007c0009 a0012c0017 a0012c0032 others(1): Show a0007c0009 a0012c0017 a0012c0032 a0022c0031	a0007c0009t0001 a0012c0017t0001 a0012c0032t0001 others(1): Show a0007c0009t0001 a0012c0017t0001 a0012c0032t0001 a0022c0031t0001	a0007c0009t0001g0083 a0007c0009t0001g0084 a0007c0009t0001g0085 others(6): Show a0007c0009t0001g0083 a0007c0009t0001g0084 a0007c0009t0001g0085 a0007c0009t0001g0087 a0007c0009t0001g0088 a0012c0017t0001g0025 a0012c0017t0001g0026 a0012c0032t0001g0086 a0022c0031t0001g0024	9	378	0.0238	c.283 others(3): Show c.283A>T	p.Ile others(5): Show p.Ile95Leu	AK9	ENSG00000155085.16	transcript	ENST00000424296.7	protein_coding	5/41	350/6317	283/5736	95/1911	chr6	TogoVar
AKAIN1_chr18_5137911_5202257	5145610	G G	T T	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(71): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00733.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01106.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01361.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp2 HG02055.hp2 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02809.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03831.hp1 HG04199.hp2 HG06807.hp1 NA18906.hp1 NA18965.hp2 NA18979.hp1 NA18994.hp1 NA19002.hp1 NA19007.hp2 NA19009.hp1 NA19012.hp1 NA19063.hp2 NA19076.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0006 a0002c0002t0009 others(16): Show a0002c0002t0005 a0002c0002t0006 a0002c0002t0009 a0002c0002t0012 a0002c0002t0013 a0002c0002t0017 a0002c0002t0019 a0002c0002t0020 a0002c0002t0021 a0002c0002t0022 a0002c0002t0024 a0002c0002t0025 a0002c0002t0027 a0002c0002t0030 a0002c0002t0035 a0002c0002t0036 a0002c0002t0039 a0002c0002t0045 a0002c0002t0046	a0002c0002t0005g0021 a0002c0002t0005g0027 a0002c0002t0005g0074 others(63): Show a0002c0002t0005g0021 a0002c0002t0005g0027 a0002c0002t0005g0074 a0002c0002t0005g0096 a0002c0002t0005g0125 a0002c0002t0005g0130 a0002c0002t0005g0132 a0002c0002t0005g0161 a0002c0002t0005g0172 a0002c0002t0005g0176 a0002c0002t0005g0183 a0002c0002t0005g0216 a0002c0002t0005g0238 a0002c0002t0005g0239 a0002c0002t0005g0240 a0002c0002t0005g0246 a0002c0002t0005g0263 a0002c0002t0005g0286 a0002c0002t0005g0287 a0002c0002t0005g0288 a0002c0002t0005g0294 a0002c0002t0006g0012 a0002c0002t0006g0026 a0002c0002t0006g0087 a0002c0002t0006g0095 a0002c0002t0006g0097 a0002c0002t0006g0098 a0002c0002t0006g0222 a0002c0002t0006g0225 a0002c0002t0006g0231 a0002c0002t0006g0283 a0002c0002t0006g0284 a0002c0002t0009g0006 a0002c0002t0009g0013 a0002c0002t0009g0085 a0002c0002t0009g0138 a0002c0002t0009g0144 a0002c0002t0009g0290 a0002c0002t0009g0313 a0002c0002t0012g0351 a0002c0002t0012g0352 a0002c0002t0012g0353 a0002c0002t0012g0366 a0002c0002t0012g0370 a0002c0002t0013g0346 a0002c0002t0013g0347 a0002c0002t0013g0350 a0002c0002t0013g0357 a0002c0002t0013g0367 a0002c0002t0017g0041 a0002c0002t0017g0043 a0002c0002t0019g0065 a0002c0002t0019g0091 a0002c0002t0020g0031 a0002c0002t0021g0375 a0002c0002t0021g0377 a0002c0002t0022g0034 a0002c0002t0024g0035 a0002c0002t0025g0052 a0002c0002t0027g0051 a0002c0002t0030g0232 a0002c0002t0035g0101 a0002c0002t0036g0090 a0002c0002t0039g0359 a0002c0002t0045g0372 a0002c0002t0046g0373	74	420	0.1762	c.162 others(3): Show c.162C>A	p.His others(5): Show p.His54Gln	AKAIN1	ENSG00000231824.4	transcript	ENST00000434239.4	protein_coding	2/2	366/3065	162/210	54/69	chr18	TogoVar

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