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	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
AKAP14_chrX_119890893_119925716	119919904	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01928.hp1 HG01978.hp2 HG02004.hp2 HG01928.hp1 HG01978.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0146 a0001c0001t0001g0175 a0001c0001t0001g0128 a0001c0001t0001g0146 a0001c0001t0001g0175	3	304	0.0099	0	c.442 others(5): Show c.442-7T>G		AKAP14	ENSG00000186471.13	transcript	ENST00000371431.8	protein_coding	5/6					chrX	TogoVar
AKAP14_chrX_119890893_119925716	119920498	TC TC	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18991.hp1 NA18991.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0095 a0002c0005t0003g0095	1	304	0.0033	-1	c.495 others(6): Show c.495-8delC		AKAP14	ENSG00000186471.13	transcript	ENST00000371431.8	protein_coding	6/6				INFO_REALIGN_3_PRIME	chrX	TogoVar
AKAP17A_chrX_1586604_1607520	1591765	C C	CG CG	splice_region_variant splice_region_variant	LOW	HG02293.hp1 HG02293.hp1	a0016 a0016	a0016c0026 a0016c0026	a0016c0026t0020 a0016c0026t0020	a0016c0026t0020g0114 a0016c0026t0020g0114	1	151	0.0066	1	c.-23 others(4): Show c.-23dupG		AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding	1/5				INFO_REALIGN_3_PRIME	chrX	TogoVar
AKAP17A_chrX_1586604_1607520	1593442	A A	AG AG	splice_region_variant splice_region_variant	LOW	NA18947.hp2 NA18947.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0055 a0002c0003t0002g0055	1	151	0.0066	1	c.-19 others(4): Show c.-19dupG		AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding	2/5				INFO_REALIGN_3_PRIME	chrX	TogoVar
AKAP17A_chrX_1586604_1607520	1600655	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01069.hp1 HG01884.hp2 HG02630.hp1 HG01069.hp1 HG01884.hp2 HG02630.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0003 a0002c0003t0003 a0002c0003t0010 a0002c0002t0003 a0002c0003t0003 a0002c0003t0010	a0002c0002t0003g0063 a0002c0003t0003g0122 a0002c0003t0010g0120 a0002c0002t0003g0063 a0002c0003t0003g0122 a0002c0003t0010g0120	3	151	0.0199	0	c.115 others(6): Show c.1153-4G>T		AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding	4/4					chrX	TogoVar
AKAP1_chr17_57080246_57126344	57112485	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02280.hp1 HG02280.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0007 a0003c0008t0007	a0003c0008t0007g0051 a0003c0008t0007g0051	1	396	0.0025	0	c.197 others(6): Show c.1976-6A>G		AKAP1	ENSG00000121057.13	transcript	ENST00000337714.8	protein_coding	4/10					chr17	TogoVar
AKAP1_chr17_57080246_57126344	57112625	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp2 HG01167.hp1 HG01169.hp1 others(2): Show HG00280.hp2 HG01167.hp1 HG01169.hp1 HG02148.hp1 HG03688.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0012 a0001c0006t0012	a0001c0006t0012g0024 a0001c0006t0012g0199 a0001c0006t0012g0200 others(1): Show a0001c0006t0012g0024 a0001c0006t0012g0199 a0001c0006t0012g0200 a0001c0006t0012g0201	5	396	0.0126	0	c.210 others(6): Show c.2103+7G>C		AKAP1	ENSG00000121057.13	transcript	ENST00000337714.8	protein_coding	5/10					chr17	TogoVar
AKAP4_chrX_50185777_50206007	50197540	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0037 a0002c0003t0001g0037	1	287	0.0035	0	c.174 others(5): Show c.174+4C>T		AKAP4	ENSG00000147081.15	transcript	ENST00000358526.7	protein_coding	3/5					chrX	TogoVar
AKAP4_chrX_50185777_50206007	50200857	C C	CT CT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0084 a0001c0001t0007g0084	1	287	0.0035	1	c.27+ others(10): Show c.27+5_27+6insA		AKAP4	ENSG00000147081.15	transcript	ENST00000358526.7	protein_coding	1/5					chrX	TogoVar
AKAP6_chr14_32324298_32842684	32599402	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG01175.hp1 HG01346.hp2 others(6): Show HG00099.hp2 HG01175.hp1 HG01346.hp2 HG01884.hp2 HG02615.hp2 HG02735.hp1 HG03098.hp1 HG03516.hp2 NA19240.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0023	a0001c0001 a0001c0006 a0001c0019 others(5): Show a0001c0001 a0001c0006 a0001c0019 a0002c0002 a0002c0058 a0003c0003 a0007c0015 a0023c0041	a0001c0001t0008 a0001c0006t0007 a0001c0019t0001 others(6): Show a0001c0001t0008 a0001c0006t0007 a0001c0019t0001 a0002c0002t0001 a0002c0002t0024 a0002c0058t0021 a0003c0003t0002 a0007c0015t0018 a0023c0041t0008	a0001c0001t0008g0129 a0001c0006t0007g0099 a0001c0019t0001g0002 others(6): Show a0001c0001t0008g0129 a0001c0006t0007g0099 a0001c0019t0001g0002 a0002c0002t0001g0056 a0002c0002t0024g0077 a0002c0058t0021g0062 a0003c0003t0002g0149 a0007c0015t0018g0089 a0023c0041t0008g0047	9	154	0.0584	0	c.247 others(6): Show c.2470-8C>T		AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	5/13					chr14	TogoVar
AKAP8_chr19_15348385_15384787	15368227	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0033 a0001c0001t0004g0033	1	286	0.0035	0	c.116 others(6): Show c.1160+8G>A		AKAP8	ENSG00000105127.10	transcript	ENST00000269701.7	protein_coding	9/13					chr19	TogoVar
AKAP8_chr19_15348385_15384787	15370139	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00544.hp1 HG02155.hp1 HG02523.hp2 others(1): Show HG00544.hp1 HG02155.hp1 HG02523.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0043 a0001c0001t0002g0032 a0001c0001t0002g0044 others(1): Show a0001c0001t0001g0043 a0001c0001t0002g0032 a0001c0001t0002g0044 a0001c0001t0002g0057	4	286	0.0140	0	c.107 others(6): Show c.1072+7A>C		AKAP8	ENSG00000105127.10	transcript	ENST00000269701.7	protein_coding	8/13					chr19	TogoVar
AKAP9_chr7_91935862_92115673	92070022	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03453.hp1 HG03453.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0296 a0003c0003t0002g0296	1	306	0.0033	0	c.633 others(6): Show c.6331-8T>C		AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	26/49					chr7	TogoVar
AKAP9_chr7_91935862_92115673	92077883	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp2 HG00639.hp2 HG00642.hp1 others(94): Show HG00280.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG01070.hp1 HG01074.hp2 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01256.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01516.hp1 HG01928.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02071.hp2 HG02109.hp2 HG02145.hp1 HG02155.hp1 HG02258.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02976.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG03834.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18943.hp2 NA18947.hp2 NA18953.hp1 NA18956.hp2 NA18960.hp1 NA18962.hp1 NA18964.hp1 NA18966.hp2 NA18979.hp2 NA18991.hp2 NA18992.hp1 NA19001.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp2 NA19060.hp1 NA19062.hp1 NA19064.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19082.hp2 NA20300.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0008 a0009 a0011 a0012 a0013 a0014 a0015 a0026 a0028	a0001c0022 a0002c0002 a0002c0033 others(10): Show a0001c0022 a0002c0002 a0002c0033 a0003c0003 a0008c0009 a0009c0012 a0011c0029 a0012c0030 a0013c0031 a0014c0013 a0015c0032 a0026c0015 a0028c0014	a0001c0022t0001 a0002c0002t0002 a0002c0002t0003 others(11): Show a0001c0022t0001 a0002c0002t0002 a0002c0002t0003 a0002c0033t0002 a0003c0003t0002 a0008c0009t0002 a0009c0012t0002 a0011c0029t0002 a0012c0030t0002 a0013c0031t0002 a0014c0013t0002 a0015c0032t0002 a0026c0015t0001 a0028c0014t0002	a0001c0022t0001g0126 a0002c0002t0002g0213 a0002c0002t0002g0214 others(94): Show a0001c0022t0001g0126 a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0249 a0002c0002t0002g0250 a0002c0002t0002g0251 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0262 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0002g0265 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0002g0276 a0002c0002t0002g0277 a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0002t0002g0281 a0002c0002t0002g0282 a0002c0002t0002g0284 a0002c0002t0002g0285 a0002c0002t0002g0286 a0002c0002t0002g0297 a0002c0002t0002g0298 a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0002t0002g0305 a0002c0002t0002g0306 a0002c0002t0003g0258 a0002c0002t0003g0261 a0002c0002t0003g0266 a0002c0033t0002g0275 a0003c0003t0002g0212 a0003c0003t0002g0240 a0003c0003t0002g0288 a0003c0003t0002g0289 a0003c0003t0002g0290 a0003c0003t0002g0291 a0003c0003t0002g0292 a0003c0003t0002g0293 a0003c0003t0002g0294 a0003c0003t0002g0295 a0003c0003t0002g0296 a0003c0003t0002g0301 a0008c0009t0002g0207 a0008c0009t0002g0209 a0008c0009t0002g0210 a0009c0012t0002g0217 a0009c0012t0002g0218 a0011c0029t0002g0283 a0012c0030t0002g0229 a0013c0031t0002g0278 a0014c0013t0002g0211 a0015c0032t0002g0239 a0026c0015t0001g0001 a0028c0014t0002g0208	97	306	0.3170	0	c.694 others(6): Show c.6945+8C>T		AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	30/49					chr7	TogoVar
AKAP9_chr7_91935862_92115673	92083164	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	306	0.0033	0	c.816 others(6): Show c.8161-6T>A		AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	32/49					chr7	TogoVar
AKAP9_chr7_91935862_92115673	92084811	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02896.hp2 HG02896.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0205 a0004c0004t0001g0205	1	306	0.0033	0	c.871 others(6): Show c.8711-8T>C		AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	34/49					chr7	TogoVar
AKIP1_chr11_8906189_8925079	8914934	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0155 a0001c0006t0002g0155	1	420	0.0024	0	c.408 others(5): Show c.408+4A>G		AKIP1	ENSG00000166452.12	transcript	ENST00000309377.9	protein_coding	4/5					chr11	TogoVar
AKIRIN1_chr1_38986276_39011059	38991608	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0067 a0001c0001t0009g0067	1	426	0.0024	0	c.220 others(5): Show c.220+8G>C		AKIRIN1	ENSG00000174574.16	transcript	ENST00000432648.8	protein_coding	1/4					chr1	TogoVar
AKIRIN1_chr1_38986276_39011059	39001114	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00597.hp1 others(75): Show HG00099.hp1 HG00099.hp2 HG00597.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01515.hp1 HG01517.hp1 HG01891.hp2 HG01981.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02257.hp1 HG02258.hp2 HG02451.hp2 HG02559.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02717.hp2 HG02738.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG03017.hp2 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03471.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03710.hp1 HG04115.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp2 NA18962.hp1 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18993.hp1 NA18995.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19079.hp2 NA19080.hp1 NA19086.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 others(8): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0026 a0001c0001t0030	a0001c0001t0003g0001 a0001c0001t0003g0008 a0001c0001t0003g0016 others(35): Show a0001c0001t0003g0001 a0001c0001t0003g0008 a0001c0001t0003g0016 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0007g0012 a0001c0001t0007g0031 a0001c0001t0007g0044 a0001c0001t0007g0053 a0001c0001t0007g0123 a0001c0001t0007g0124 a0001c0001t0007g0125 a0001c0001t0007g0126 a0001c0001t0007g0127 a0001c0001t0009g0001 a0001c0001t0009g0008 a0001c0001t0009g0042 a0001c0001t0009g0043 a0001c0001t0009g0067 a0001c0001t0009g0077 a0001c0001t0013g0030 a0001c0001t0013g0114 a0001c0001t0016g0055 a0001c0001t0018g0031 a0001c0001t0018g0082 a0001c0001t0020g0030 a0001c0001t0022g0030 a0001c0001t0024g0086 a0001c0001t0026g0076 a0001c0001t0030g0158	78	426	0.1831	0	c.496 others(5): Show c.496+8C>G		AKIRIN1	ENSG00000174574.16	transcript	ENST00000432648.8	protein_coding	3/4					chr1	TogoVar
AKIRIN2_chr6_87669860_87707233	87675861	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02257.hp2 HG02258.hp1 HG02486.hp1 others(10): Show HG02257.hp2 HG02258.hp1 HG02486.hp1 HG02630.hp1 HG02886.hp1 HG02895.hp1 HG02965.hp2 HG03130.hp2 HG03486.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0007 a0001c0002t0006 a0001c0002t0007	a0001c0002t0006g0047 a0001c0002t0006g0048 a0001c0002t0006g0049 others(10): Show a0001c0002t0006g0047 a0001c0002t0006g0048 a0001c0002t0006g0049 a0001c0002t0006g0053 a0001c0002t0006g0054 a0001c0002t0006g0055 a0001c0002t0006g0058 a0001c0002t0007g0050 a0001c0002t0007g0051 a0001c0002t0007g0052 a0001c0002t0007g0056 a0001c0002t0007g0057 a0001c0002t0007g0059	13	406	0.0320	0	c.600 others(3): Show c.600C>T	p.Ser others(6): Show p.Ser200Ser	AKIRIN2	ENSG00000135334.9	transcript	ENST00000257787.6	protein_coding	4/5	1149/1898	600/612	200/203		chr6	TogoVar
AKNAD1_chr1_108810901_108862094	108816306	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03139.hp2 NA20300.hp2 HG03139.hp2 NA20300.hp2	a0002 a0008 a0002 a0008	a0002c0002 a0008c0010 a0002c0002 a0008c0010	a0002c0002t0001 a0008c0010t0001 a0002c0002t0001 a0008c0010t0001	a0002c0002t0001g0202 a0008c0010t0001g0117 a0002c0002t0001g0202 a0008c0010t0001g0117	2	398	0.0050	0	c.238 others(6): Show c.2380-4G>A		AKNAD1	ENSG00000162641.20	transcript	ENST00000370001.8	protein_coding	15/15					chr1	TogoVar
AKNAD1_chr1_108810901_108862094	108817181	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0308 a0001c0007t0001g0308	1	398	0.0025	0	c.225 others(6): Show c.2250-4C>A		AKNAD1	ENSG00000162641.20	transcript	ENST00000370001.8	protein_coding	14/15					chr1	TogoVar
AKNAD1_chr1_108810901_108862094	108823362	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18944.hp2 NA19005.hp1 NA19057.hp2 NA18944.hp2 NA19005.hp1 NA19057.hp2	a0001 a0006 a0018 a0001 a0006 a0018	a0001c0011 a0006c0028 a0018c0061 a0001c0011 a0006c0028 a0018c0061	a0001c0011t0002 a0006c0028t0004 a0018c0061t0004 a0001c0011t0002 a0006c0028t0004 a0018c0061t0004	a0001c0011t0002g0322 a0006c0028t0004g0098 a0018c0061t0004g0061 a0001c0011t0002g0322 a0006c0028t0004g0098 a0018c0061t0004g0061	3	398	0.0075	0	c.216 others(6): Show c.2167+8C>A		AKNAD1	ENSG00000162641.20	transcript	ENST00000370001.8	protein_coding	13/15					chr1	TogoVar
AKNAD1_chr1_108810901_108862094	108825266	AAGATGAT others(4064): Show AAGATGATAAATGTTTGTTGTTTTCAGCCTTAAGTTCTGGGATACTTTGT TACACAGCTATAGATAGCTAATACACTCACTCACACTCACTCTTTGGTCC TGTCAAGTCACTTAATTTCTCTGAGCCTCTAGTTCCTTATCTATAAAATA AAGATAATCATTCCTGCATTACAGGGATGTTGTGAGAGTTATGTGACATA CACTGGCAACAGTTTTCAAACTTTTGATTCCAGAACCCTTTTACACTCTT AAAATTGAGGACCCTAAACAGCCTTTGTTTCTGTGGTTTTAATCTACCAT AAAATGATAATATATACCATTTTATATACCTGAGGTGAAAATCCCCCCTC ATTGGAGAACAGCTAGCATTCAACATTCAGTCCACTGCAGATGGATTGGT AGAGAAGTACTAATGTATAGATTACTAGTCATTTTTTGCTTGTGCAAATC ATTTAGATTTCCCAAAACTAAATGAGCAGTTCCAAGGCGCTTTTTTTTTA GAATTTTAAACTGAGAGGTTTAAAAGATAATTTTATTTATTATGGCATTT AAAAAGTAATAAATCCATGTCATATTAACAAAATAGCAGTTTTTAATGAA AATAACTATTTCTAAAAAATTTAGTGAGAAGAGTGGCATCATTTTACGTT TTGGCAAATATCTTGAATATCTGGCTTAATAAAAGGCAACTGGATTCCAT AACTGCATCTCCATCAGTTGCCTGTAATACTAGCGTTGCACAGCTATATG GCTGGTAAAGGAAGGACCTGGTGGCCCCCCCGAAAGGGTTTCAGGAAACC CCAGGGACCCTCCGATTACACCTGGAAAACTCCTACTTTGTTATACCATC TGGCATAATACGTCTTCAATCAATGAACCCTATTATTATTTGGAAATGTG TCATCTACAGAGAAGCCAGTGCAGAACCAAGTGTGACATAACAGAAGGCA GAGCTGGAGGCATGGCTCTGGGCCACAGGCAGTGCAGATGTAAGAAAGCC TGGGTAGCTCTCCAGTGCAGCTTCCTGGTGCATAAGCTGGGGAGACAAGC TGGGTAGGTAGGTTAGGCTCAGAGGTGATTTTTAAGCTCAGAAGCTGCCT GAGCAGAGGCCTCCAGCCCCACCTCTTCTCCCAGGGCAGTTCTGCTAGAT GTTTCTCTCCTTAAACTATCTTTGAAAAAAAGGATCTTATGACTAAAAGC CATTGAATTGCGTGTACTGGGGCACCTCCCAGCTCCAACTTTCTTTGCTT CTATGAAATGCATATATCCAAAGCAGCAGCAATTCTCACGTAGCCAGTAA CCTTACCAGGTACAGTTATGGGTCATGTGGGAAGGATGAGGATGGACAGA CTGAATGACATCTTGTGATTGAGTCCATGGAGTCCTTCATTTTCAGCTAG AAACAGGTGTTCATGCTTTACTCTACTTAACCACATCTTATTGAAAGTGA TTCTTTTTTTCTTTTCTTTTCTTTTTCTTTTTTTTTTTTTTTGAAACAGG GTCCTACTCTGTCGCCCAGGCTGGAGTACGGTGGCATGATCATGGCTCAC TGCAGCCTCAACCTCCCGGACTCAAGCAATCTTCCCACCTTAGTCTCCCA AGTAGCTGGGACTACAGGCGTGAGCCACCACACCTGGCTAATTTTTGTAT TTTTTTTGTACAGATGGAATGTCACCATGTTGGCCAGGCTGGTCTTGAAC TCCTGAGCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGAATT ACAGGCATGAGCCCCCATGCCCAGCCTATTAATTCTTTACATTTTGCAAA TAAATAAATACAACATGCAACATCCTAGTGTAGGGAAATGCTCTTGGAGT GGCAGATGGCAAGCTGGTGCCTACTGCGAGCAGACCCCATGGGGAGGGAC ACTGAAAAATGAGCACCCAGCCCAAGCCCATCAACTTACTGGGAGTTGAA TCTGAGTGTGGTGCCTTTTCATGAAGGACAATTGAAAATCTTCCACAGTT GATCCTTCCGTGGCCCTTTTTCTCCACGTTTTGCTTCCTAAAAAAAGGTG CATAAGATCCTGTAAACTTTTAGTGCATTTCCAATAGATAGGGAAAGTTT TGGTAAAGTTGAAACGTTAAATTTTGTTATATTAGAGCCTGGAACAGTGT AGGAGGGGCTTGTCATCCTCTACACAGAGCTCTCCTCTGCCTGCCTGTTT GAGAGCTTTTCTACAAGAAATTGCACCCCAGCACAATTTGGCCTGATAAG AAAATGTATACAAGACAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAGTACAAAAAAT TAGCTGGGCGCCGTAGTGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGGGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCTACTCAA AAAAAAAAAAAAGAAAATGTATACAAGACATGAAAAATAAATGTTTTGTT CTGCCGAGGTTAATATCTAATCATCACATACACATTCACAAAACACATTT GAAGTATGGAATTATAAAATTTGGAGTTTTCCTCATGCATCAAAATCCAT TCCAGGCTGGGTATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGG CCAAGGAGGGTGGATGGCTTGAGACTAGGAGTTCAAGGTCAGCCAGGGCA ACATGGCAAAACCTCATCTCAAAAACAAACAAACAAACAAACAAACAAAC AAACAGTTCCTACCAGGGGAAGAAACTATGCTATACGTCAGTAATGGGTC ACGTAGCTTTGGTCCTGGAAGTACAAGCTGATTACATCCAACAACTCCAG CAAAGTGGGCTTTGCCGGGTGTCTGTGGGACTAAAGGCTGAGGGAGCACG TGAAGGTGATTTTAGTTGCACATGGCCACCAGGTGGCGTCAGAAAGAAGC AACTGCAATGGACATTGTTCAGGAGCCTTCCTGTGGCCCACCTGCAGCTT CCTCCCTCCTCCTCAGAAATCCCAACTCCTCCAAAGGAATTCGAATTAAT AACAGTTCTGAACAAAGCTCTTGCTAAGCTCCTGGGATACAGTCATAGCC CCCAGGGAAAGTTGTTCATTCTTAGTATGGAAGGCACTGTGCCCGAGATA TCCTGGCATAAATGAGGCAGATTGCCCAGGGCTAGGGTTTGAGCCCAAGG CATTGCTGGGCAAACACATGCTCGCCGCGCTGTGCCCTGGCCTGCTGTTG GCGGAGAAGGGATGGGGCTGCGGGTTTGTGGGGCTGGGGCTGAGAAGCCA GGCTCTTTCCCTCCTCTTGGAAAAACATGCTGTCCTCTTGAGTCACATAT TTTCTCACACCTCATTTTCTGTCTCCACCCTTCTCCTCTGGGGCATTTGA ACATCTGCTCTCCAAAGTGGGAAACTTGGATCTCACTCAAGTGCATGCAG TCCAACACAGGACTTTTTCTGCTTTTAAACTCCTTTGTGTACTCAAATCT TCTGGCCAAACATAATTCCTCTGGAGAAGACAGTTTTTCAACAAGACAAA GCAGCTAAAGTACACACTTAAATCCAAAGTTTTGCATCAGAAATAACATA AAGGGATAAGCATATTTTACATTTTATACATATGTAATTTATCCACTTAT ATATAAACAATTTACAAATATCCTGAAAACAGTATGTACCTCAGCAAGCT TCATAAAGGACAAGTCCCATCAGAGAGAGATTTAATCTTCTAACAGAAAG AATATATAGTCCTCCCTTCAATCAATAATTCCTCAGGGATTATGTAAGTT ACAAGATTTTAATTCATAAGTCATGTGTATCTTCTCATCACTCCCCAGCA GTGGATTCACTGTGAGATTTGATTTTACACTTGGTTGTGCTTGTCTTTCC AGCTTGTCTATCATAAAAAAGTATTATTTAGTCTGGAACATTGGTCCCTG TCTTGGTACTTAATGTACTTCT	A A	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG00558.hp1 HG01070.hp1 HG01074.hp2 others(29): Show HG00558.hp1 HG01070.hp1 HG01074.hp2 HG01106.hp1 HG01515.hp1 HG01952.hp1 HG01993.hp2 HG02027.hp2 HG02129.hp2 HG02273.hp2 HG03239.hp1 NA18944.hp1 NA18951.hp2 NA18962.hp1 NA18962.hp2 NA18978.hp2 NA18983.hp2 NA18986.hp1 NA18987.hp2 NA18998.hp1 NA19009.hp2 NA19010.hp1 NA19065.hp2 NA19068.hp1 NA19075.hp2 NA19079.hp1 NA19081.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19091.hp2 NA21309.hp1	a0004 a0031 a0004 a0031	a0004c0006 a0004c0008 a0004c0043 others(2): Show a0004c0006 a0004c0008 a0004c0043 a0004c0065 a0031c0068	a0004c0006t0001 a0004c0008t0001 a0004c0008t0002 others(3): Show a0004c0006t0001 a0004c0008t0001 a0004c0008t0002 a0004c0043t0002 a0004c0065t0001 a0031c0068t0001	a0004c0006t0001g0018 a0004c0006t0001g0026 a0004c0006t0001g0028 others(23): Show a0004c0006t0001g0018 a0004c0006t0001g0026 a0004c0006t0001g0028 a0004c0006t0001g0159 a0004c0006t0001g0161 a0004c0006t0001g0163 a0004c0006t0001g0164 a0004c0006t0001g0167 a0004c0006t0001g0260 a0004c0006t0001g0267 a0004c0006t0001g0268 a0004c0006t0001g0269 a0004c0006t0001g0275 a0004c0006t0001g0337 a0004c0008t0001g0007 a0004c0008t0001g0025 a0004c0008t0001g0125 a0004c0008t0001g0240 a0004c0008t0001g0241 a0004c0008t0001g0242 a0004c0008t0001g0257 a0004c0008t0001g0270 a0004c0008t0002g0130 a0004c0043t0002g0206 a0004c0065t0001g0347 a0031c0068t0001g0327	32	398	0.0804	-4071	c.183 others(19): Show c.1838+1222_1937-1579del		AKNAD1	ENSG00000162641.20	transcript	ENST00000370001.8	protein_coding	11/16					chr1	TogoVar
AKNAD1_chr1_108810901_108862094	108834448	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00140.hp1 HG00408.hp2 HG00642.hp1 others(62): Show HG00140.hp1 HG00408.hp2 HG00642.hp1 HG01081.hp1 HG01099.hp2 HG01192.hp2 HG01243.hp1 HG01257.hp2 HG01346.hp2 HG01516.hp2 HG01517.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02129.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02738.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03453.hp2 HG03540.hp1 HG03579.hp2 HG04115.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp2 NA18950.hp2 NA18952.hp2 NA18957.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp2 NA18969.hp1 NA18980.hp1 NA18986.hp2 NA18992.hp1 NA18994.hp2 NA18998.hp2 NA19000.hp1 NA19001.hp2 NA19003.hp1 NA19007.hp1 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19065.hp1 NA19070.hp2 NA19081.hp2 NA19086.hp1 NA19088.hp1 NA19088.hp2	a0003 a0007 a0010 others(6): Show a0003 a0007 a0010 a0013 a0020 a0024 a0025 a0029 a0033	a0003c0009 a0003c0012 a0003c0013 others(15): Show a0003c0009 a0003c0012 a0003c0013 a0003c0016 a0003c0056 a0003c0057 a0007c0014 a0007c0021 a0007c0039 a0010c0023 a0010c0048 a0010c0049 a0013c0019 a0020c0053 a0024c0047 a0025c0066 a0029c0063 a0033c0070	a0003c0009t0001 a0003c0012t0003 a0003c0012t0004 others(17): Show a0003c0009t0001 a0003c0012t0003 a0003c0012t0004 a0003c0013t0001 a0003c0016t0001 a0003c0016t0003 a0003c0056t0010 a0003c0057t0006 a0007c0014t0001 a0007c0021t0005 a0007c0039t0003 a0010c0023t0001 a0010c0048t0001 a0010c0049t0002 a0013c0019t0002 a0020c0053t0001 a0024c0047t0001 a0025c0066t0002 a0029c0063t0009 a0033c0070t0003	a0003c0009t0001g0156 a0003c0009t0001g0169 a0003c0009t0001g0201 others(56): Show a0003c0009t0001g0156 a0003c0009t0001g0169 a0003c0009t0001g0201 a0003c0009t0001g0208 a0003c0009t0001g0259 a0003c0009t0001g0261 a0003c0009t0001g0276 a0003c0009t0001g0283 a0003c0009t0001g0291 a0003c0009t0001g0292 a0003c0009t0001g0293 a0003c0009t0001g0294 a0003c0012t0003g0011 a0003c0012t0003g0012 a0003c0012t0003g0065 a0003c0012t0003g0067 a0003c0012t0003g0068 a0003c0012t0003g0072 a0003c0012t0004g0064 a0003c0012t0004g0069 a0003c0013t0001g0027 a0003c0013t0001g0152 a0003c0013t0001g0195 a0003c0013t0001g0232 a0003c0013t0001g0233 a0003c0013t0001g0278 a0003c0013t0001g0280 a0003c0016t0001g0302 a0003c0016t0001g0303 a0003c0016t0001g0304 a0003c0016t0001g0306 a0003c0016t0003g0070 a0003c0016t0003g0071 a0003c0056t0010g0049 a0003c0057t0006g0048 a0007c0014t0001g0009 a0007c0014t0001g0032 a0007c0014t0001g0108 a0007c0014t0001g0329 a0007c0021t0005g0034 a0007c0021t0005g0035 a0007c0021t0005g0036 a0007c0021t0005g0037 a0007c0039t0003g0045 a0007c0039t0003g0046 a0010c0023t0001g0157 a0010c0023t0001g0342 a0010c0023t0001g0346 a0010c0048t0001g0158 a0010c0049t0002g0281 a0013c0019t0002g0168 a0013c0019t0002g0170 a0013c0019t0002g0171 a0013c0019t0002g0190 a0020c0053t0001g0296 a0024c0047t0001g0279 a0025c0066t0002g0305 a0029c0063t0009g0042 a0033c0070t0003g0100	65	398	0.1633	0	c.174 others(4): Show c.1745G>T	p.Gly others(6): Show p.Gly582Val	AKNAD1	ENSG00000162641.20	transcript	ENST00000370001.8	protein_coding	9/16	2014/3050	1745/2511	582/836		chr1	TogoVar
AKNAD1_chr1_108810901_108862094	108834535	T T	TA TA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00408.hp2 HG00642.hp1 others(61): Show HG00140.hp1 HG00408.hp2 HG00642.hp1 HG01081.hp1 HG01099.hp2 HG01192.hp2 HG01243.hp1 HG01257.hp2 HG01346.hp2 HG01516.hp2 HG01517.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02129.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02738.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03453.hp2 HG03540.hp1 HG03579.hp2 HG04115.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp2 NA18950.hp2 NA18952.hp2 NA18957.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp2 NA18969.hp1 NA18980.hp1 NA18986.hp2 NA18992.hp1 NA18994.hp2 NA18998.hp2 NA19000.hp1 NA19001.hp2 NA19003.hp1 NA19007.hp1 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19065.hp1 NA19070.hp2 NA19081.hp2 NA19086.hp1 NA19088.hp1 NA19088.hp2	a0003 a0007 a0010 others(6): Show a0003 a0007 a0010 a0013 a0020 a0024 a0025 a0029 a0033	a0003c0009 a0003c0012 a0003c0013 others(15): Show a0003c0009 a0003c0012 a0003c0013 a0003c0016 a0003c0056 a0003c0057 a0007c0014 a0007c0021 a0007c0039 a0010c0023 a0010c0048 a0010c0049 a0013c0019 a0020c0053 a0024c0047 a0025c0066 a0029c0063 a0033c0070	a0003c0009t0001 a0003c0012t0003 a0003c0012t0004 others(17): Show a0003c0009t0001 a0003c0012t0003 a0003c0012t0004 a0003c0013t0001 a0003c0016t0001 a0003c0016t0003 a0003c0056t0010 a0003c0057t0006 a0007c0014t0001 a0007c0021t0005 a0007c0039t0003 a0010c0023t0001 a0010c0048t0001 a0010c0049t0002 a0013c0019t0002 a0020c0053t0001 a0024c0047t0001 a0025c0066t0002 a0029c0063t0009 a0033c0070t0003	a0003c0009t0001g0156 a0003c0009t0001g0169 a0003c0009t0001g0201 others(55): Show a0003c0009t0001g0156 a0003c0009t0001g0169 a0003c0009t0001g0201 a0003c0009t0001g0208 a0003c0009t0001g0259 a0003c0009t0001g0261 a0003c0009t0001g0276 a0003c0009t0001g0283 a0003c0009t0001g0291 a0003c0009t0001g0292 a0003c0009t0001g0293 a0003c0009t0001g0294 a0003c0012t0003g0011 a0003c0012t0003g0012 a0003c0012t0003g0065 a0003c0012t0003g0067 a0003c0012t0003g0068 a0003c0012t0003g0072 a0003c0012t0004g0064 a0003c0012t0004g0069 a0003c0013t0001g0027 a0003c0013t0001g0152 a0003c0013t0001g0195 a0003c0013t0001g0232 a0003c0013t0001g0233 a0003c0013t0001g0278 a0003c0013t0001g0280 a0003c0016t0001g0302 a0003c0016t0001g0303 a0003c0016t0001g0306 a0003c0016t0003g0070 a0003c0016t0003g0071 a0003c0056t0010g0049 a0003c0057t0006g0048 a0007c0014t0001g0009 a0007c0014t0001g0032 a0007c0014t0001g0108 a0007c0014t0001g0329 a0007c0021t0005g0034 a0007c0021t0005g0035 a0007c0021t0005g0036 a0007c0021t0005g0037 a0007c0039t0003g0045 a0007c0039t0003g0046 a0010c0023t0001g0157 a0010c0023t0001g0342 a0010c0023t0001g0346 a0010c0048t0001g0158 a0010c0049t0002g0281 a0013c0019t0002g0168 a0013c0019t0002g0170 a0013c0019t0002g0171 a0013c0019t0002g0190 a0020c0053t0001g0296 a0024c0047t0001g0279 a0025c0066t0002g0305 a0029c0063t0009g0042 a0033c0070t0003g0100	64	398	0.1608	1	c.166 others(7): Show c.1665-8dupT		AKNAD1	ENSG00000162641.20	transcript	ENST00000370001.8	protein_coding	8/15					chr1	TogoVar
AKNAD1_chr1_108810901_108862094	108834535	TA TA	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(270): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18987.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp2 NA19084.hp1 NA19085.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(20): Show a0001 a0002 a0004 a0005 a0006 a0008 a0009 a0011 a0012 a0014 a0015 a0016 a0017 a0018 a0019 a0021 a0022 a0023 a0026 a0027 a0028 a0030 a0032	a0001c0001 a0001c0003 a0001c0007 others(45): Show a0001c0001 a0001c0003 a0001c0007 a0001c0011 a0001c0031 a0001c0040 a0001c0046 a0001c0050 a0001c0054 a0002c0002 a0002c0005 a0002c0015 a0002c0024 a0002c0029 a0002c0030 a0002c0044 a0004c0008 a0005c0004 a0005c0022 a0005c0033 a0006c0017 a0006c0028 a0006c0037 a0006c0038 a0008c0010 a0009c0020 a0009c0036 a0011c0026 a0011c0035 a0012c0018 a0014c0027 a0014c0071 a0015c0034 a0015c0051 a0016c0025 a0017c0032 a0017c0060 a0018c0061 a0018c0062 a0019c0041 a0021c0067 a0022c0042 a0023c0045 a0026c0052 a0027c0058 a0028c0059 a0030c0064 a0032c0069	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(62): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0003t0002 a0001c0007t0001 a0001c0011t0001 a0001c0011t0002 a0001c0011t0003 a0001c0031t0001 a0001c0031t0006 a0001c0040t0002 a0001c0046t0003 a0001c0050t0001 a0001c0054t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0005t0001 a0002c0005t0003 a0002c0005t0012 a0002c0015t0001 a0002c0015t0002 a0002c0024t0006 a0002c0029t0003 a0002c0029t0004 a0002c0030t0006 a0002c0030t0013 a0002c0044t0002 a0004c0008t0001 a0005c0004t0002 a0005c0004t0004 a0005c0022t0001 a0005c0033t0002 a0006c0017t0011 a0006c0028t0004 a0006c0037t0001 a0006c0038t0003 a0008c0010t0001 a0008c0010t0002 a0008c0010t0004 a0009c0020t0002 a0009c0020t0004 a0009c0036t0003 a0011c0026t0004 a0011c0035t0003 a0012c0018t0005 a0014c0027t0004 a0014c0071t0004 a0015c0034t0007 a0015c0051t0001 a0016c0025t0004 a0017c0032t0003 a0017c0032t0004 a0017c0060t0003 a0018c0061t0004 a0018c0062t0003 a0019c0041t0003 a0021c0067t0001 a0022c0042t0003 a0023c0045t0002 a0026c0052t0001 a0027c0058t0004 a0028c0059t0004 a0030c0064t0001 a0032c0069t0004	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0016 others(236): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0106 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0166 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0282 a0001c0001t0001g0285 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0003g0004 a0001c0003t0001g0136 a0001c0003t0001g0141 a0001c0003t0001g0184 a0001c0003t0001g0186 a0001c0003t0001g0212 a0001c0003t0001g0333 a0001c0003t0002g0005 a0001c0003t0002g0019 a0001c0003t0002g0107 a0001c0003t0002g0118 a0001c0003t0002g0127 a0001c0003t0002g0128 a0001c0003t0002g0137 a0001c0003t0002g0145 a0001c0003t0002g0149 a0001c0003t0002g0151 a0001c0003t0002g0172 a0001c0003t0002g0197 a0001c0003t0002g0204 a0001c0003t0002g0213 a0001c0003t0002g0243 a0001c0003t0002g0244 a0001c0007t0001g0008 a0001c0007t0001g0030 a0001c0007t0001g0300 a0001c0007t0001g0308 a0001c0007t0001g0313 a0001c0007t0001g0314 a0001c0007t0001g0315 a0001c0007t0001g0318 a0001c0007t0001g0319 a0001c0007t0001g0320 a0001c0007t0001g0321 a0001c0007t0001g0348 a0001c0007t0001g0349 a0001c0011t0001g0307 a0001c0011t0002g0003 a0001c0011t0002g0301 a0001c0011t0002g0311 a0001c0011t0002g0312 a0001c0011t0002g0322 a0001c0011t0003g0066 a0001c0031t0001g0298 a0001c0031t0006g0050 a0001c0040t0002g0325 a0001c0046t0003g0055 a0001c0050t0001g0189 a0001c0054t0001g0297 a0002c0002t0001g0111 a0002c0002t0001g0119 a0002c0002t0001g0124 a0002c0002t0001g0142 a0002c0002t0001g0165 a0002c0002t0001g0199 a0002c0002t0001g0202 a0002c0002t0001g0211 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0223 a0002c0002t0001g0225 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0264 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0001g0326 a0002c0002t0001g0335 a0002c0002t0001g0336 a0002c0002t0002g0001 a0002c0002t0002g0112 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0218 a0002c0002t0002g0266 a0002c0002t0003g0053 a0002c0005t0001g0022 a0002c0005t0001g0122 a0002c0005t0001g0123 a0002c0005t0001g0133 a0002c0005t0001g0194 a0002c0005t0001g0203 a0002c0005t0001g0219 a0002c0005t0001g0253 a0002c0005t0001g0263 a0002c0005t0001g0274 a0002c0005t0001g0284 a0002c0005t0001g0332 a0002c0005t0001g0344 a0002c0005t0001g0345 a0002c0005t0003g0077 a0002c0005t0003g0088 a0002c0005t0012g0104 a0002c0015t0001g0317 a0002c0015t0002g0031 a0002c0015t0002g0309 a0002c0015t0002g0310 a0002c0015t0002g0316 a0002c0024t0006g0051 a0002c0024t0006g0052 a0002c0024t0006g0054 a0002c0029t0003g0101 a0002c0029t0004g0102 a0002c0030t0006g0078 a0002c0030t0013g0105 a0002c0044t0002g0200 a0004c0008t0001g0125 a0005c0004t0002g0023 a0005c0004t0002g0129 a0005c0004t0002g0132 a0005c0004t0002g0143 a0005c0004t0002g0147 a0005c0004t0002g0153 a0005c0004t0002g0174 a0005c0004t0002g0220 a0005c0004t0002g0224 a0005c0004t0002g0230 a0005c0004t0002g0231 a0005c0004t0002g0238 a0005c0004t0002g0239 a0005c0004t0002g0343 a0005c0004t0004g0096 a0005c0022t0001g0144 a0005c0022t0001g0205 a0005c0022t0001g0221 a0005c0033t0002g0029 a0006c0017t0011g0103 a0006c0028t0004g0010 a0006c0028t0004g0098 a0006c0037t0001g0328 a0006c0038t0003g0095 a0006c0038t0003g0099 a0008c0010t0001g0117 a0008c0010t0001g0245 a0008c0010t0002g0015 a0008c0010t0002g0135 a0008c0010t0002g0146 a0008c0010t0002g0198 a0008c0010t0002g0277 a0008c0010t0002g0341 a0008c0010t0004g0073 a0009c0020t0002g0113 a0009c0020t0004g0047 a0009c0020t0004g0075 a0009c0020t0004g0076 a0009c0036t0003g0013 a0011c0026t0004g0083 a0011c0026t0004g0089 a0011c0035t0003g0081 a0011c0035t0003g0082 a0012c0018t0005g0040 a0014c0027t0004g0091 a0014c0027t0004g0093 a0014c0027t0004g0094 a0014c0071t0004g0097 a0015c0034t0007g0043 a0015c0051t0001g0286 a0016c0025t0004g0079 a0016c0025t0004g0080 a0016c0025t0004g0085 a0017c0032t0003g0059 a0017c0032t0004g0057 a0017c0060t0003g0058 a0018c0061t0004g0061 a0018c0062t0003g0063 a0019c0041t0003g0090 a0021c0067t0001g0350 a0022c0042t0003g0074 a0023c0045t0002g0287 a0026c0052t0001g0295 a0027c0058t0004g0062 a0028c0059t0004g0060 a0030c0064t0001g0299 a0032c0069t0004g0092	273	398	0.6859	-1	c.166 others(7): Show c.1665-8delT		AKNAD1	ENSG00000162641.20	transcript	ENST00000370001.8	protein_coding	8/15					chr1	TogoVar
AKNAD1_chr1_108810901_108862094	108843128	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03041.hp2 HG03579.hp1 HG03654.hp2 others(1): Show HG03041.hp2 HG03579.hp1 HG03654.hp2 NA21309.hp2	a0002 a0022 a0028 a0002 a0022 a0028	a0002c0002 a0002c0005 a0022c0042 others(1): Show a0002c0002 a0002c0005 a0022c0042 a0028c0059	a0002c0002t0001 a0002c0005t0003 a0022c0042t0003 others(1): Show a0002c0002t0001 a0002c0005t0003 a0022c0042t0003 a0028c0059t0004	a0002c0002t0001g0336 a0002c0005t0003g0088 a0022c0042t0003g0074 others(1): Show a0002c0002t0001g0336 a0002c0005t0003g0088 a0022c0042t0003g0074 a0028c0059t0004g0060	4	398	0.0101	0	c.137 others(6): Show c.1379+6A>G		AKNAD1	ENSG00000162641.20	transcript	ENST00000370001.8	protein_coding	6/15					chr1	TogoVar
AKNAD1_chr1_108810901_108862094	108843275	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02615.hp2 HG02622.hp2 HG02615.hp2 HG02622.hp2	a0010 a0033 a0010 a0033	a0010c0023 a0033c0070 a0010c0023 a0033c0070	a0010c0023t0001 a0033c0070t0003 a0010c0023t0001 a0033c0070t0003	a0010c0023t0001g0346 a0033c0070t0003g0100 a0010c0023t0001g0346 a0033c0070t0003g0100	2	398	0.0050	0	c.124 others(6): Show c.1246-8C>T		AKNAD1	ENSG00000162641.20	transcript	ENST00000370001.8	protein_coding	5/15					chr1	TogoVar
AKNAD1_chr1_108810901_108862094	108856921	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG01243.hp1 HG01884.hp1 others(6): Show HG00140.hp1 HG01243.hp1 HG01884.hp1 HG01891.hp1 HG02647.hp1 HG02738.hp1 HG02976.hp1 HG04115.hp1 NA19240.hp2	a0007 a0012 a0007 a0012	a0007c0021 a0012c0018 a0007c0021 a0012c0018	a0007c0021t0005 a0012c0018t0005 a0012c0018t0008 a0007c0021t0005 a0012c0018t0005 a0012c0018t0008	a0007c0021t0005g0034 a0007c0021t0005g0035 a0007c0021t0005g0036 others(6): Show a0007c0021t0005g0034 a0007c0021t0005g0035 a0007c0021t0005g0036 a0007c0021t0005g0037 a0012c0018t0005g0038 a0012c0018t0005g0039 a0012c0018t0005g0040 a0012c0018t0005g0041 a0012c0018t0008g0033	9	398	0.0226	0	c.-10 others(6): Show c.-104+8T>C		AKNAD1	ENSG00000162641.20	transcript	ENST00000370001.8	protein_coding	1/15					chr1	TogoVar
AKNA_chr9_114329156_114392982	114347900	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02132.hp1 HG02257.hp2 HG02258.hp2 others(19): Show HG02132.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02572.hp1 HG02698.hp1 HG02809.hp2 HG02896.hp1 HG03130.hp1 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG06807.hp2 NA18747.hp1 NA18942.hp2 NA18966.hp2 NA19003.hp2 NA19074.hp2 NA19079.hp2 NA19084.hp1 NA21309.hp1 NA21309.hp2	a0003 a0016 a0003 a0016	a0003c0006 a0003c0011 a0016c0016 a0003c0006 a0003c0011 a0016c0016	a0003c0006t0001 a0003c0006t0010 a0003c0006t0015 others(7): Show a0003c0006t0001 a0003c0006t0010 a0003c0006t0015 a0003c0006t0016 a0003c0006t0018 a0003c0006t0044 a0003c0006t0045 a0003c0011t0010 a0003c0011t0018 a0016c0016t0015	a0003c0006t0001g0018 a0003c0006t0010g0094 a0003c0006t0010g0237 others(18): Show a0003c0006t0001g0018 a0003c0006t0010g0094 a0003c0006t0010g0237 a0003c0006t0015g0086 a0003c0006t0016g0220 a0003c0006t0016g0224 a0003c0006t0016g0225 a0003c0006t0016g0229 a0003c0006t0018g0226 a0003c0006t0018g0227 a0003c0006t0044g0228 a0003c0006t0045g0230 a0003c0011t0010g0300 a0003c0011t0010g0301 a0003c0011t0010g0310 a0003c0011t0010g0324 a0003c0011t0018g0193 a0003c0011t0018g0198 a0016c0016t0015g0234 a0016c0016t0015g0235 a0016c0016t0015g0236	22	388	0.0567	0	c.322 others(4): Show c.3222C>T	p.Asp others(7): Show p.Asp1074Asp	AKNA	ENSG00000106948.17	transcript	ENST00000374088.8	protein_coding	16/22	3458/7454	3222/4320	1074/1439		chr9	TogoVar
AKNA_chr9_114329156_114392982	114359798	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02083.hp2 HG02083.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0068 a0007c0009t0001g0068	1	388	0.0026	0	c.229 others(6): Show c.2292-4G>A		AKNA	ENSG00000106948.17	transcript	ENST00000374088.8	protein_coding	10/21					chr9	TogoVar
AKNA_chr9_114329156_114392982	114362399	C C	CA CA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02698.hp1 HG03490.hp2 HG03492.hp2 others(1): Show HG02698.hp1 HG03490.hp2 HG03492.hp2 NA18966.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0010 a0003c0006t0001 a0003c0006t0010	a0003c0006t0001g0018 a0003c0006t0010g0094 a0003c0006t0010g0237 a0003c0006t0001g0018 a0003c0006t0010g0094 a0003c0006t0010g0237	4	388	0.0103	1	c.191 others(7): Show c.1916+6dupT		AKNA	ENSG00000106948.17	transcript	ENST00000374088.8	protein_coding	8/21					chr9	TogoVar
AKR1A1_chr1_45545826_45575049	45561790	G G	A A	splice_region_variant splice_region_variant	LOW	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	352	0.0028	0	c.-5G others(2): Show c.-5G>A		AKR1A1	ENSG00000117448.14	transcript	ENST00000351829.9	protein_coding	2/9					chr1	TogoVar
AKR1A1_chr1_45545826_45575049	45566871	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0002 a0001c0005t0001g0002	1	352	0.0028	0	c.207 others(3): Show c.207G>A	p.Ala others(5): Show p.Ala69Ala	AKR1A1	ENSG00000117448.14	transcript	ENST00000351829.9	protein_coding	4/9	543/1407	207/978	69/325		chr1	TogoVar
AKR1A1_chr1_45545826_45575049	45569228	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19074.hp1 NA19074.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0002	a0005c0008t0002g0125 a0005c0008t0002g0125	1	352	0.0028	0	c.911 others(3): Show c.911C>T	p.Thr others(6): Show p.Thr304Met	AKR1A1	ENSG00000117448.14	transcript	ENST00000351829.9	protein_coding	8/9	1247/1407	911/978	304/325		chr1	TogoVar
AKR1B10_chr7_134522567_134546412	134530644	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19075.hp2 NA19075.hp2	a0008 a0008	a0008c0018 a0008c0018	a0008c0018t0001 a0008c0018t0001	a0008c0018t0001g0001 a0008c0018t0001g0001	1	448	0.0022	0	c.68C others(2): Show c.68C>T	p.Ser others(5): Show p.Ser23Phe	AKR1B10	ENSG00000198074.10	transcript	ENST00000359579.5	protein_coding	2/10	413/1619	68/951	23/316		chr7	TogoVar
AKR1B10_chr7_134522567_134546412	134537576	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02970.hp2 HG03195.hp1 HG02970.hp2 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0057 a0001c0002t0004g0057	2	448	0.0045	0	c.660 others(5): Show c.660-4C>G		AKR1B10	ENSG00000198074.10	transcript	ENST00000359579.5	protein_coding	6/9					chr7	TogoVar
AKR1B10_chr7_134522567_134546412	134537661	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02559.hp1 HG02622.hp1 HG03209.hp1 others(1): Show HG02559.hp1 HG02622.hp1 HG03209.hp1 HG03453.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0034 a0001c0008t0001g0064 a0001c0008t0001g0065 a0001c0008t0001g0034 a0001c0008t0001g0064 a0001c0008t0001g0065	4	448	0.0089	0	c.741 others(3): Show c.741G>A	p.Gln others(6): Show p.Gln247Gln	AKR1B10	ENSG00000198074.10	transcript	ENST00000359579.5	protein_coding	7/10	1086/1619	741/951	247/316		chr7	TogoVar
AKR1B10_chr7_134522567_134546412	134539017	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02165.hp1 HG02165.hp1	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0001 a0010c0017t0001	a0010c0017t0001g0001 a0010c0017t0001g0001	1	448	0.0022	0	c.908 others(3): Show c.908A>G	p.Gln others(6): Show p.Gln303Arg	AKR1B10	ENSG00000198074.10	transcript	ENST00000359579.5	protein_coding	9/10	1253/1619	908/951	303/316		chr7	TogoVar
AKR1B15_chr7_134544110_134584869	134556863	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00438.hp1 HG00438.hp2 others(66): Show HG00140.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG01070.hp2 HG01071.hp1 HG01433.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02135.hp2 HG02155.hp1 HG02257.hp1 HG02300.hp1 HG02735.hp2 HG03942.hp2 NA18612.hp2 NA18941.hp1 NA18945.hp1 NA18946.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18961.hp2 NA18963.hp2 NA18966.hp1 NA18969.hp2 NA18978.hp1 NA18984.hp2 NA18988.hp2 NA18991.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp2 NA19001.hp1 NA19004.hp1 NA19007.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19068.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19087.hp1 NA19089.hp1 NA19091.hp1 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0014 a0001c0001 a0004c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0004c0014t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0011 others(33): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0031 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0005g0033 a0004c0014t0001g0011	69	404	0.1708	0	c.-23 others(5): Show c.-23+4G>T		AKR1B15	ENSG00000227471.9	transcript	ENST00000457545.7	protein_coding	2/11					chr7	TogoVar
AKR1B15_chr7_134544110_134584869	134571685	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	404	0.0025	0	c.513 others(5): Show c.513+4G>A		AKR1B15	ENSG00000227471.9	transcript	ENST00000457545.7	protein_coding	6/11					chr7	TogoVar
AKR1B15_chr7_134544110_134584869	134575934	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00544.hp2 HG00673.hp2 HG01934.hp1 HG00544.hp2 HG00673.hp2 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0033 a0001c0001t0002g0078 a0001c0001t0005g0033 a0001c0001t0002g0033 a0001c0001t0002g0078 a0001c0001t0005g0033	3	404	0.0074	0	c.743 others(5): Show c.743+7C>T		AKR1B15	ENSG00000227471.9	transcript	ENST00000457545.7	protein_coding	8/11					chr7	TogoVar
AKR1B15_chr7_134544110_134584869	134576345	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(198): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04228.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp1 NA18978.hp1 NA18978.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18991.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp2 NA19000.hp2 NA19001.hp1 NA19003.hp1 NA19004.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19055.hp1 NA19058.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp2 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19087.hp1 NA19089.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0009	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009 a0001c0013 a0004c0014 a0005c0008 a0009c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0002t0007 a0001c0003t0001 a0001c0003t0004 a0001c0004t0001 a0001c0009t0001 a0001c0013t0001 a0004c0014t0001 a0005c0008t0001 a0009c0007t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0011 others(124): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0031 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0167 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0003g0023 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0062 a0001c0001t0003g0089 a0001c0001t0005g0033 a0001c0002t0001g0006 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0020 a0001c0002t0001g0022 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0037 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0097 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0007g0170 a0001c0003t0001g0008 a0001c0003t0001g0026 a0001c0003t0001g0173 a0001c0003t0004g0174 a0001c0004t0001g0036 a0001c0004t0001g0091 a0001c0004t0001g0092 a0001c0004t0001g0093 a0001c0009t0001g0009 a0001c0013t0001g0193 a0004c0014t0001g0011 a0005c0008t0001g0095 a0009c0007t0001g0090	201	404	0.4975	0	c.744 others(5): Show c.744-4C>G		AKR1B15	ENSG00000227471.9	transcript	ENST00000457545.7	protein_coding	8/11					chr7	TogoVar
AKR1B15_chr7_134544110_134584869	134576433	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01099.hp2 HG01891.hp2 HG02055.hp1 others(3): Show HG01099.hp2 HG01891.hp2 HG02055.hp1 HG03209.hp1 HG06807.hp2 NA20129.hp1	a0001 a0009 a0001 a0009	a0001c0004 a0009c0007 a0001c0004 a0009c0007	a0001c0004t0001 a0009c0007t0001 a0001c0004t0001 a0009c0007t0001	a0001c0004t0001g0036 a0001c0004t0001g0091 a0001c0004t0001g0092 others(2): Show a0001c0004t0001g0036 a0001c0004t0001g0091 a0001c0004t0001g0092 a0001c0004t0001g0093 a0009c0007t0001g0090	6	404	0.0149	0	c.825 others(5): Show c.825+3A>G		AKR1B15	ENSG00000227471.9	transcript	ENST00000457545.7	protein_coding	9/11					chr7	TogoVar
AKR1B1_chr7_134437356_134464100	134449714	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	446	0.0022	0	c.429 others(5): Show c.429+6A>G		AKR1B1	ENSG00000085662.14	transcript	ENST00000285930.9	protein_coding	4/9					chr7	TogoVar
AKR1B1_chr7_134437356_134464100	134449722	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01981.hp2 HG01981.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0140 a0003c0004t0001g0140	1	446	0.0022	0	c.427 others(3): Show c.427G>A	p.Ala others(6): Show p.Ala143Thr	AKR1B1	ENSG00000085662.14	transcript	ENST00000285930.9	protein_coding	4/10	465/1361	427/951	143/316		chr7	TogoVar
AKR1C1_chr10_4958415_4988283	4967043	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18985.hp1 NA18985.hp1	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0164 a0006c0015t0164	a0006c0015t0164g0063 a0006c0015t0164g0063	1	426	0.0024	0	c.369 others(3): Show c.369G>T	p.Lys others(6): Show p.Lys123Asn	AKR1C1	ENSG00000187134.14	transcript	ENST00000380872.9	protein_coding	3/9	399/6543	369/972	123/323		chr10	TogoVar
AKR1C1_chr10_4958415_4988283	4967047	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18985.hp1 NA18985.hp1	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0164 a0006c0015t0164	a0006c0015t0164g0063 a0006c0015t0164g0063	1	426	0.0024	0	c.369 others(5): Show c.369+4G>A		AKR1C1	ENSG00000187134.14	transcript	ENST00000380872.9	protein_coding	3/8					chr10	TogoVar
AKR1C1_chr10_4958415_4988283	4967048	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18985.hp1 NA18985.hp1	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0164 a0006c0015t0164	a0006c0015t0164g0063 a0006c0015t0164g0063	1	426	0.0024	0	c.369 others(5): Show c.369+5G>A		AKR1C1	ENSG00000187134.14	transcript	ENST00000380872.9	protein_coding	3/8					chr10	TogoVar

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