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
AKR1C1_chr10_4958415_4988283	4972743	C C	A A	missense_variant missense_variant	MODERATE	HG01346.hp1 HG01516.hp2 HG01346.hp1 HG01516.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0005 a0002c0008t0152 a0002c0008t0005 a0002c0008t0152	a0002c0008t0005g0002 a0002c0008t0152g0002 a0002c0008t0005g0002 a0002c0008t0152g0002	2	426	0.0047	c.840 others(3): Show c.840C>A	p.Asn others(6): Show p.Asn280Lys	AKR1C1	ENSG00000187134.14	transcript	ENST00000380872.9	protein_coding	7/9	870/6543	840/972	280/323	chr10	TogoVar
AKR1C2_chr10_4982775_5008857	4995328	C C	G G	missense_variant missense_variant	MODERATE	HG02559.hp2 HG02976.hp2 HG02559.hp2 HG02976.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0018 a0005c0009t0018	a0005c0009t0018g0040 a0005c0009t0018g0040	2	412	0.0049	c.837 others(3): Show c.837G>C	p.Gln others(6): Show p.Gln279His	AKR1C2	ENSG00000151632.18	transcript	ENST00000380753.9	protein_coding	7/9	859/3215	837/972	279/323	chr10	TogoVar
AKR1C2_chr10_4982775_5008857	4999225	G G	C C	missense_variant missense_variant	MODERATE	NA18906.hp2 NA18906.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0010 a0006c0014t0010	a0006c0014t0010g0144 a0006c0014t0010g0144	1	412	0.0024	c.422 others(3): Show c.422C>G	p.Thr others(6): Show p.Thr141Arg	AKR1C2	ENSG00000151632.18	transcript	ENST00000380753.9	protein_coding	4/9	444/3215	422/972	141/323	chr10	TogoVar
AKR1C2_chr10_4982775_5008857	5000555	C C	T T	missense_variant missense_variant	MODERATE	HG01255.hp1 HG03139.hp1 HG01255.hp1 HG03139.hp1	a0004 a0004	a0004c0010 a0004c0011 a0004c0010 a0004c0011	a0004c0010t0003 a0004c0011t0007 a0004c0010t0003 a0004c0011t0007	a0004c0010t0003g0147 a0004c0011t0007g0148 a0004c0010t0003g0147 a0004c0011t0007g0148	2	412	0.0049	c.364 others(3): Show c.364G>A	p.Val others(6): Show p.Val122Ile	AKR1C2	ENSG00000151632.18	transcript	ENST00000380753.9	protein_coding	3/9	386/3215	364/972	122/323	chr10	TogoVar
AKR1C2_chr10_4982775_5008857	5001555	C C	G G	missense_variant missense_variant	MODERATE	HG01168.hp1 HG01169.hp2 HG03927.hp2 HG01168.hp1 HG01169.hp2 HG03927.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0024 a0003c0006t0001g0024	3	412	0.0073	c.211 others(3): Show c.211G>C	p.Asp others(5): Show p.Asp71His	AKR1C2	ENSG00000151632.18	transcript	ENST00000380753.9	protein_coding	2/9	233/3215	211/972	71/323	chr10	TogoVar
AKR1C2_chr10_4982775_5008857	5001557	G G	A A	missense_variant missense_variant	MODERATE	HG02922.hp1 HG02922.hp1	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0003 a0007c0016t0003	a0007c0016t0003g0078 a0007c0016t0003g0078	1	412	0.0024	c.209 others(3): Show c.209C>T	p.Ala others(5): Show p.Ala70Val	AKR1C2	ENSG00000151632.18	transcript	ENST00000380753.9	protein_coding	2/9	231/3215	209/972	70/323	chr10	TogoVar
AKR1C2_chr10_4982775_5008857	5001629	A A	T T	missense_variant missense_variant	MODERATE	HG01109.hp2 HG01175.hp2 HG01243.hp2 others(13): Show HG01109.hp2 HG01175.hp2 HG01243.hp2 HG02109.hp2 HG02486.hp2 HG02622.hp2 HG02630.hp2 HG02886.hp2 HG02897.hp1 HG02965.hp1 HG03041.hp1 HG03098.hp1 HG03195.hp2 HG03540.hp2 NA19240.hp1 NA20129.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0019 a0002c0004t0026 a0002c0004t0006 a0002c0004t0019 a0002c0004t0026	a0002c0004t0006g0006 a0002c0004t0006g0032 a0002c0004t0019g0033 others(1): Show a0002c0004t0006g0006 a0002c0004t0006g0032 a0002c0004t0019g0033 a0002c0004t0026g0079	16	412	0.0388	c.137 others(3): Show c.137T>A	p.Phe others(5): Show p.Phe46Tyr	AKR1C2	ENSG00000151632.18	transcript	ENST00000380753.9	protein_coding	2/9	159/3215	137/972	46/323	chr10	TogoVar
AKR1C3_chr10_5089414_5112686	5094459	C C	G G	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(308): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19012.hp2 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0003 a0005 others(4): Show a0001 a0003 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0001c0014 a0003c0004 others(5): Show a0001c0001 a0001c0014 a0003c0004 a0005c0007 a0006c0009 a0007c0010 a0008c0013 a0009c0012	a0001c0001t0001 a0001c0001t0002 a0001c0014t0002 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0014t0002 a0003c0004t0001 a0005c0007t0002 a0006c0009t0001 a0007c0010t0002 a0008c0013t0002 a0009c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(93): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0058 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0016 a0001c0001t0002g0026 a0001c0001t0002g0029 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0043 a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0076 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0014t0002g0075 a0003c0004t0001g0004 a0003c0004t0001g0021 a0003c0004t0001g0101 a0003c0004t0001g0102 a0003c0004t0001g0103 a0003c0004t0001g0113 a0005c0007t0002g0015 a0005c0007t0002g0059 a0005c0007t0002g0061 a0005c0007t0002g0062 a0005c0007t0002g0074 a0006c0009t0001g0001 a0007c0010t0002g0002 a0008c0013t0002g0002 a0009c0012t0001g0004	311	438	0.7101	c.15C others(2): Show c.15C>G	p.His others(4): Show p.His5Gln	AKR1C3	ENSG00000196139.14	transcript	ENST00000380554.5	protein_coding	1/9	46/1186	15/972	5/323	chr10	TogoVar
AKR1C3_chr10_5089414_5112686	5096522	G G	A A	missense_variant missense_variant	MODERATE	HG01109.hp2 HG02257.hp1 HG02451.hp1 others(6): Show HG01109.hp2 HG02257.hp1 HG02451.hp1 HG02572.hp2 HG02976.hp2 HG03139.hp2 HG03579.hp2 NA20129.hp1 NA20129.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0015 a0005c0007t0002g0059 a0005c0007t0002g0061 others(2): Show a0005c0007t0002g0015 a0005c0007t0002g0059 a0005c0007t0002g0061 a0005c0007t0002g0062 a0005c0007t0002g0074	9	438	0.0206	c.197 others(3): Show c.197G>A	p.Arg others(5): Show p.Arg66Gln	AKR1C3	ENSG00000196139.14	transcript	ENST00000380554.5	protein_coding	2/9	228/1186	197/972	66/323	chr10	TogoVar
AKR1C3_chr10_5089414_5112686	5096555	A A	G G	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00280.hp2 HG00642.hp1 others(11): Show HG00140.hp2 HG00280.hp2 HG00642.hp1 HG01109.hp1 HG01256.hp1 HG01261.hp1 HG01361.hp1 HG01516.hp2 HG01517.hp1 HG02145.hp1 HG02280.hp2 HG02886.hp1 HG02922.hp2 HG02965.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0009 a0004c0005t0001g0018 a0004c0005t0001g0019 a0004c0005t0001g0009 a0004c0005t0001g0018 a0004c0005t0001g0019	14	438	0.0320	c.230 others(3): Show c.230A>G	p.Glu others(5): Show p.Glu77Gly	AKR1C3	ENSG00000196139.14	transcript	ENST00000380554.5	protein_coding	2/9	261/1186	230/972	77/323	chr10	TogoVar
AKR1C3_chr10_5089414_5112686	5098866	G G	A A	missense_variant missense_variant	MODERATE	HG00438.hp1 NA18977.hp1 NA19001.hp2 others(1): Show HG00438.hp1 NA18977.hp1 NA19001.hp2 NA19081.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0001 a0006c0009t0001g0001	4	438	0.0091	c.434 others(3): Show c.434G>A	p.Cys others(6): Show p.Cys145Tyr	AKR1C3	ENSG00000196139.14	transcript	ENST00000380554.5	protein_coding	4/9	465/1186	434/972	145/323	chr10	TogoVar
AKR1C3_chr10_5089414_5112686	5099367	T T	C C	missense_variant missense_variant	MODERATE	HG00621.hp2 HG00621.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0004 a0009c0012t0001g0004	1	438	0.0023	c.488 others(3): Show c.488T>C	p.Ile others(6): Show p.Ile163Thr	AKR1C3	ENSG00000196139.14	transcript	ENST00000380554.5	protein_coding	5/9	519/1186	488/972	163/323	chr10	TogoVar
AKR1C3_chr10_5089414_5112686	5099427	A A	T T	missense_variant missense_variant	MODERATE	HG02809.hp1 HG03139.hp1 HG03225.hp1 HG02809.hp1 HG03139.hp1 HG03225.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0002 a0007c0010t0002	a0007c0010t0002g0002 a0007c0010t0002g0002	3	438	0.0069	c.548 others(3): Show c.548A>T	p.Lys others(6): Show p.Lys183Met	AKR1C3	ENSG00000196139.14	transcript	ENST00000380554.5	protein_coding	5/9	579/1186	548/972	183/323	chr10	TogoVar
AKR1C3_chr10_5089414_5112686	5102153	C C	T T	missense_variant missense_variant	MODERATE	HG03195.hp2 HG03195.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0002 a0008c0013t0002	a0008c0013t0002g0002 a0008c0013t0002g0002	1	438	0.0023	c.623 others(3): Show c.623C>T	p.Ser others(6): Show p.Ser208Leu	AKR1C3	ENSG00000196139.14	transcript	ENST00000380554.5	protein_coding	6/9	654/1186	623/972	208/323	chr10	TogoVar
AKR1C3_chr10_5089414_5112686	5102576	C C	T T	missense_variant missense_variant	MODERATE	HG00621.hp2 HG01123.hp2 HG01346.hp2 others(25): Show HG00621.hp2 HG01123.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp2 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02148.hp1 NA18612.hp2 NA18948.hp1 NA18961.hp1 NA18965.hp1 NA18971.hp1 NA18983.hp1 NA18994.hp1 NA18995.hp2 NA18998.hp2 NA19057.hp1 NA19058.hp2 NA19062.hp1 NA19075.hp2 NA19082.hp2 NA19084.hp2 NA19085.hp1	a0003 a0009 a0003 a0009	a0003c0004 a0009c0012 a0003c0004 a0009c0012	a0003c0004t0001 a0009c0012t0001 a0003c0004t0001 a0009c0012t0001	a0003c0004t0001g0004 a0003c0004t0001g0021 a0003c0004t0001g0101 others(4): Show a0003c0004t0001g0004 a0003c0004t0001g0021 a0003c0004t0001g0101 a0003c0004t0001g0102 a0003c0004t0001g0103 a0003c0004t0001g0113 a0009c0012t0001g0004	28	438	0.0639	c.772 others(3): Show c.772C>T	p.Arg others(6): Show p.Arg258Cys	AKR1C3	ENSG00000196139.14	transcript	ENST00000380554.5	protein_coding	7/9	803/1186	772/972	258/323	chr10	TogoVar
AKR1C4_chr10_5191837_5223949	5200289	A A	G G	missense_variant missense_variant	MODERATE	HG03453.hp1 HG03453.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0219 a0008c0009t0001g0219	1	434	0.0023	c.193 others(3): Show c.193A>G	p.Ile others(5): Show p.Ile65Val	AKR1C4	ENSG00000198610.11	transcript	ENST00000263126.3	protein_coding	2/9	224/1192	193/972	65/323	chr10	TogoVar
AKR1C4_chr10_5191837_5223949	5200323	G G	C C	missense_variant missense_variant	MODERATE	HG02970.hp2 HG02970.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0089 a0007c0010t0001g0089	1	434	0.0023	c.227 others(3): Show c.227G>C	p.Arg others(5): Show p.Arg76Thr	AKR1C4	ENSG00000198610.11	transcript	ENST00000263126.3	protein_coding	2/9	258/1192	227/972	76/323	chr10	TogoVar
AKR1C4_chr10_5191837_5223949	5205791	G G	A A	missense_variant missense_variant	MODERATE	HG01109.hp1 HG02257.hp2 HG02572.hp2 others(6): Show HG01109.hp1 HG02257.hp2 HG02572.hp2 HG02723.hp1 HG02970.hp1 HG02976.hp1 HG03139.hp2 HG03579.hp2 NA20129.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0021 a0003c0004t0001g0152 a0003c0004t0001g0167 others(2): Show a0003c0004t0001g0021 a0003c0004t0001g0152 a0003c0004t0001g0167 a0003c0004t0001g0168 a0003c0004t0001g0221	9	434	0.0207	c.404 others(3): Show c.404G>A	p.Gly others(6): Show p.Gly135Glu	AKR1C4	ENSG00000198610.11	transcript	ENST00000263126.3	protein_coding	4/9	435/1192	404/972	135/323	chr10	TogoVar
AKR1C4_chr10_5191837_5223949	5205821	C C	G G	missense_variant missense_variant	MODERATE	HG00408.hp2 HG01069.hp2 HG01070.hp2 others(46): Show HG00408.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01123.hp1 HG01257.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp2 HG01934.hp1 HG01952.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02273.hp1 HG02273.hp2 HG02602.hp2 HG03239.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp2 NA18747.hp1 NA18747.hp2 NA18953.hp2 NA18969.hp2 NA18974.hp1 NA18975.hp1 NA18980.hp1 NA18982.hp1 NA18987.hp1 NA18988.hp1 NA18991.hp2 NA19000.hp1 NA19002.hp1 NA19006.hp2 NA19011.hp2 NA19056.hp1 NA19063.hp1 NA19064.hp2 NA19084.hp2 NA19088.hp1 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0002 a0002c0002t0003 a0002c0005t0002 a0002c0002t0002 a0002c0002t0003 a0002c0005t0002	a0002c0002t0002g0003 a0002c0002t0002g0016 a0002c0002t0002g0023 others(20): Show a0002c0002t0002g0003 a0002c0002t0002g0016 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0003g0003 a0002c0002t0003g0016 a0002c0002t0003g0023 a0002c0005t0002g0013	49	434	0.1129	c.434 others(3): Show c.434C>G	p.Ser others(6): Show p.Ser145Cys	AKR1C4	ENSG00000198610.11	transcript	ENST00000263126.3	protein_coding	4/9	465/1192	434/972	145/323	chr10	TogoVar
AKR1C4_chr10_5191837_5223949	5213022	G G	C C	missense_variant missense_variant	MODERATE	HG03688.hp1 HG03688.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0194 a0006c0007t0001g0194	1	434	0.0023	c.709 others(3): Show c.709G>C	p.Glu others(6): Show p.Glu237Gln	AKR1C4	ENSG00000198610.11	transcript	ENST00000263126.3	protein_coding	7/9	740/1192	709/972	237/323	chr10	TogoVar
AKR1C4_chr10_5191837_5223949	5213040	G G	A A	missense_variant missense_variant	MODERATE	HG01255.hp1 HG02280.hp2 HG03453.hp1 others(1): Show HG01255.hp1 HG02280.hp2 HG03453.hp1 NA19030.hp2	a0004 a0008 a0004 a0008	a0004c0006 a0008c0009 a0004c0006 a0008c0009	a0004c0006t0001 a0008c0009t0001 a0004c0006t0001 a0008c0009t0001	a0004c0006t0001g0215 a0004c0006t0001g0218 a0004c0006t0001g0220 others(1): Show a0004c0006t0001g0215 a0004c0006t0001g0218 a0004c0006t0001g0220 a0008c0009t0001g0219	4	434	0.0092	c.727 others(3): Show c.727G>A	p.Ala others(6): Show p.Ala243Thr	AKR1C4	ENSG00000198610.11	transcript	ENST00000263126.3	protein_coding	7/9	758/1192	727/972	243/323	chr10	TogoVar
AKR1C4_chr10_5191837_5223949	5213062	A A	G G	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(430): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008	a0001c0001 a0001c0003 a0002c0002 others(6): Show a0001c0001 a0001c0003 a0002c0002 a0002c0005 a0003c0004 a0004c0006 a0006c0007 a0007c0010 a0008c0009	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0003t0001 a0002c0002t0002 a0002c0002t0003 a0002c0005t0002 a0003c0004t0001 a0004c0006t0001 a0006c0007t0001 a0007c0010t0001 a0008c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(222): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0222 a0001c0001t0004g0017 a0001c0001t0004g0043 a0001c0001t0004g0082 a0001c0001t0004g0083 a0001c0001t0004g0205 a0001c0001t0005g0158 a0001c0003t0001g0009 a0001c0003t0001g0026 a0001c0003t0001g0053 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0084 a0001c0003t0001g0085 a0001c0003t0001g0086 a0001c0003t0001g0087 a0001c0003t0001g0088 a0001c0003t0001g0090 a0001c0003t0001g0091 a0001c0003t0001g0092 a0002c0002t0002g0003 a0002c0002t0002g0016 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0003g0003 a0002c0002t0003g0016 a0002c0002t0003g0023 a0002c0005t0002g0013 a0003c0004t0001g0021 a0003c0004t0001g0152 a0003c0004t0001g0167 a0003c0004t0001g0168 a0003c0004t0001g0221 a0004c0006t0001g0215 a0004c0006t0001g0218 a0004c0006t0001g0220 a0006c0007t0001g0194 a0007c0010t0001g0089 a0008c0009t0001g0219	433	434	0.9977	c.749 others(3): Show c.749A>G	p.Gln others(6): Show p.Gln250Arg	AKR1C4	ENSG00000198610.11	transcript	ENST00000263126.3	protein_coding	7/9	780/1192	749/972	250/323	chr10	TogoVar
AKR1C4_chr10_5191837_5223949	5218719	C C	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00408.hp2 HG01069.hp2 HG01070.hp2 others(46): Show HG00408.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01123.hp1 HG01257.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp2 HG01934.hp1 HG01952.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02273.hp1 HG02273.hp2 HG02602.hp2 HG03239.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp2 NA18747.hp1 NA18747.hp2 NA18953.hp2 NA18969.hp2 NA18974.hp1 NA18975.hp1 NA18980.hp1 NA18982.hp1 NA18987.hp1 NA18988.hp1 NA18991.hp2 NA19000.hp1 NA19002.hp1 NA19006.hp2 NA19011.hp2 NA19056.hp1 NA19063.hp1 NA19064.hp2 NA19084.hp2 NA19088.hp1 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0002 a0002c0002t0003 a0002c0005t0002 a0002c0002t0002 a0002c0002t0003 a0002c0005t0002	a0002c0002t0002g0003 a0002c0002t0002g0016 a0002c0002t0002g0023 others(20): Show a0002c0002t0002g0003 a0002c0002t0002g0016 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0003g0003 a0002c0002t0003g0016 a0002c0002t0003g0023 a0002c0005t0002g0013	49	434	0.1129	c.931 others(3): Show c.931C>G	p.Leu others(6): Show p.Leu311Val	AKR1C4	ENSG00000198610.11	transcript	ENST00000263126.3	protein_coding	9/9	962/1192	931/972	311/323	chr10	TogoVar
AKR1C8_chr10_5148920_5190150	5157715	C C	T T	missense_variant missense_variant	MODERATE	HG01081.hp1 HG02109.hp1 NA18522.hp2 HG01081.hp1 HG02109.hp1 NA18522.hp2	a0008 a0009 a0012 a0008 a0009 a0012	a0008c0009 a0009c0010 a0012c0013 a0008c0009 a0009c0010 a0012c0013	a0008c0009t0001 a0009c0010t0001 a0012c0013t0001 a0008c0009t0001 a0009c0010t0001 a0012c0013t0001	a0008c0009t0001g0162 a0009c0010t0001g0163 a0012c0013t0001g0092 a0008c0009t0001g0162 a0009c0010t0001g0163 a0012c0013t0001g0092	3	408	0.0074	c.775 others(3): Show c.775G>A	p.Ala others(6): Show p.Ala259Thr	AKR1C8	ENSG00000264006.9	transcript	ENST00000648824.2	protein_coding	7/9	821/1247	775/981	259/326	chr10	TogoVar
AKR1C8_chr10_5148920_5190150	5157733	C C	G G	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(119): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01928.hp2 HG01952.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03516.hp1 HG03540.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18941.hp2 NA18953.hp1 NA18974.hp1 NA18979.hp2 NA18980.hp2 NA18988.hp2 NA18990.hp2 NA19000.hp1 NA19002.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19054.hp2 NA19056.hp1 NA19058.hp2 NA19063.hp1 NA19064.hp1 NA19079.hp1 NA19088.hp2 NA19240.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 others(5): Show a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0012	a0002c0003 a0003c0004 a0003c0006 others(6): Show a0002c0003 a0003c0004 a0003c0006 a0004c0005 a0006c0008 a0007c0016 a0008c0009 a0009c0010 a0012c0013	a0002c0003t0001 a0002c0003t0006 a0003c0004t0002 others(9): Show a0002c0003t0001 a0002c0003t0006 a0003c0004t0002 a0003c0006t0002 a0004c0005t0001 a0004c0005t0003 a0004c0005t0004 a0006c0008t0001 a0007c0016t0003 a0008c0009t0001 a0009c0010t0001 a0012c0013t0001	a0002c0003t0001g0016 a0002c0003t0001g0024 a0002c0003t0001g0053 others(88): Show a0002c0003t0001g0016 a0002c0003t0001g0024 a0002c0003t0001g0053 a0002c0003t0001g0054 a0002c0003t0001g0055 a0002c0003t0001g0056 a0002c0003t0001g0057 a0002c0003t0001g0224 a0002c0003t0001g0225 a0002c0003t0001g0226 a0002c0003t0001g0227 a0002c0003t0001g0228 a0002c0003t0001g0229 a0002c0003t0001g0230 a0002c0003t0001g0231 a0002c0003t0001g0232 a0002c0003t0001g0233 a0002c0003t0001g0234 a0002c0003t0001g0235 a0002c0003t0001g0236 a0002c0003t0001g0237 a0002c0003t0001g0238 a0002c0003t0001g0240 a0002c0003t0001g0243 a0002c0003t0001g0244 a0002c0003t0001g0245 a0002c0003t0001g0246 a0002c0003t0001g0247 a0002c0003t0001g0248 a0002c0003t0001g0249 a0002c0003t0001g0250 a0002c0003t0001g0251 a0002c0003t0006g0239 a0003c0004t0002g0005 a0003c0004t0002g0008 a0003c0004t0002g0009 a0003c0004t0002g0029 a0003c0004t0002g0030 a0003c0004t0002g0069 a0003c0004t0002g0073 a0003c0004t0002g0074 a0003c0004t0002g0075 a0003c0004t0002g0076 a0003c0004t0002g0077 a0003c0004t0002g0078 a0003c0004t0002g0079 a0003c0004t0002g0080 a0003c0004t0002g0081 a0003c0004t0002g0082 a0003c0004t0002g0083 a0003c0004t0002g0084 a0003c0004t0002g0085 a0003c0004t0002g0086 a0003c0004t0002g0087 a0003c0004t0002g0088 a0003c0004t0002g0089 a0003c0004t0002g0165 a0003c0006t0002g0028 a0003c0006t0002g0062 a0003c0006t0002g0063 a0003c0006t0002g0064 a0003c0006t0002g0065 a0003c0006t0002g0066 a0004c0005t0001g0006 a0004c0005t0001g0019 a0004c0005t0001g0051 a0004c0005t0001g0052 a0004c0005t0001g0090 a0004c0005t0001g0091 a0004c0005t0001g0093 a0004c0005t0001g0094 a0004c0005t0001g0095 a0004c0005t0001g0096 a0004c0005t0001g0097 a0004c0005t0001g0098 a0004c0005t0001g0103 a0004c0005t0001g0104 a0004c0005t0001g0213 a0004c0005t0001g0215 a0004c0005t0001g0216 a0004c0005t0001g0217 a0004c0005t0001g0253 a0004c0005t0003g0071 a0004c0005t0004g0164 a0004c0005t0004g0220 a0006c0008t0001g0068 a0006c0008t0001g0214 a0007c0016t0003g0070 a0008c0009t0001g0162 a0009c0010t0001g0163 a0012c0013t0001g0092	122	408	0.2990	c.757 others(3): Show c.757G>C	p.Gly others(6): Show p.Gly253Arg	AKR1C8	ENSG00000264006.9	transcript	ENST00000648824.2	protein_coding	7/9	803/1247	757/981	253/326	chr10	TogoVar
AKR1C8_chr10_5148920_5190150	5157799	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02109.hp1 HG02109.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0162 a0008c0009t0001g0162	1	408	0.0025	c.691 others(3): Show c.691G>A	p.Val others(6): Show p.Val231Met	AKR1C8	ENSG00000264006.9	transcript	ENST00000648824.2	protein_coding	7/9	737/1247	691/981	231/326	chr10	TogoVar
AKR1C8_chr10_5148920_5190150	5158663	C C	A A	missense_variant missense_variant	MODERATE	HG00323.hp1 HG00642.hp2 HG00738.hp1 others(40): Show HG00323.hp1 HG00642.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp2 HG01099.hp2 HG01106.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01261.hp2 HG01515.hp2 HG01928.hp2 HG02055.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02486.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03130.hp2 HG03490.hp1 HG04115.hp1 HG04204.hp1 HG04228.hp2 NA19030.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0006 a0002c0003t0001 a0002c0003t0006	a0002c0003t0001g0016 a0002c0003t0001g0024 a0002c0003t0001g0053 others(30): Show a0002c0003t0001g0016 a0002c0003t0001g0024 a0002c0003t0001g0053 a0002c0003t0001g0054 a0002c0003t0001g0055 a0002c0003t0001g0056 a0002c0003t0001g0057 a0002c0003t0001g0224 a0002c0003t0001g0225 a0002c0003t0001g0226 a0002c0003t0001g0227 a0002c0003t0001g0228 a0002c0003t0001g0229 a0002c0003t0001g0230 a0002c0003t0001g0231 a0002c0003t0001g0232 a0002c0003t0001g0233 a0002c0003t0001g0234 a0002c0003t0001g0235 a0002c0003t0001g0236 a0002c0003t0001g0237 a0002c0003t0001g0238 a0002c0003t0001g0240 a0002c0003t0001g0243 a0002c0003t0001g0244 a0002c0003t0001g0245 a0002c0003t0001g0246 a0002c0003t0001g0247 a0002c0003t0001g0248 a0002c0003t0001g0249 a0002c0003t0001g0250 a0002c0003t0001g0251 a0002c0003t0006g0239	43	408	0.1054	c.626 others(3): Show c.626G>T	p.Cys others(6): Show p.Cys209Phe	AKR1C8	ENSG00000264006.9	transcript	ENST00000648824.2	protein_coding	6/9	672/1247	626/981	209/326	chr10	TogoVar
AKR1C8_chr10_5148920_5190150	5159905	T T	C C	missense_variant missense_variant	MODERATE	HG01069.hp1 HG01071.hp1 HG01123.hp1 others(4): Show HG01069.hp1 HG01071.hp1 HG01123.hp1 HG01516.hp2 HG03927.hp1 HG03942.hp2 NA20752.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0028 a0003c0006t0002g0062 a0003c0006t0002g0063 others(3): Show a0003c0006t0002g0028 a0003c0006t0002g0062 a0003c0006t0002g0063 a0003c0006t0002g0064 a0003c0006t0002g0065 a0003c0006t0002g0066	7	408	0.0172	c.557 others(3): Show c.557A>G	p.Lys others(6): Show p.Lys186Arg	AKR1C8	ENSG00000264006.9	transcript	ENST00000648824.2	protein_coding	5/9	603/1247	557/981	186/326	chr10	TogoVar
AKR1C8_chr10_5148920_5190150	5159969	A A	G G	missense_variant missense_variant	MODERATE	HG01928.hp1 HG01928.hp1	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0001 a0011c0012t0001	a0011c0012t0001g0155 a0011c0012t0001g0155	1	408	0.0025	c.493 others(3): Show c.493T>C	p.Ser others(6): Show p.Ser165Pro	AKR1C8	ENSG00000264006.9	transcript	ENST00000648824.2	protein_coding	5/9	539/1247	493/981	165/326	chr10	TogoVar
AKR1C8_chr10_5148920_5190150	5161902	G G	A A	missense_variant missense_variant	MODERATE	HG00741.hp2 HG00741.hp2	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0001 a0010c0014t0001	a0010c0014t0001g0112 a0010c0014t0001g0112	1	408	0.0025	c.332 others(3): Show c.332C>T	p.Pro others(6): Show p.Pro111Leu	AKR1C8	ENSG00000264006.9	transcript	ENST00000648824.2	protein_coding	3/9	378/1247	332/981	111/326	chr10	TogoVar
AKR1C8_chr10_5148920_5190150	5161954	G G	A A	missense_variant missense_variant	MODERATE	HG02451.hp2 NA19043.hp1 NA20129.hp2 HG02451.hp2 NA19043.hp1 NA20129.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0212 a0005c0007t0001g0218 a0005c0007t0001g0219 a0005c0007t0001g0212 a0005c0007t0001g0218 a0005c0007t0001g0219	3	408	0.0074	c.280 others(3): Show c.280C>T	p.Arg others(5): Show p.Arg94Trp	AKR1C8	ENSG00000264006.9	transcript	ENST00000648824.2	protein_coding	3/9	326/1247	280/981	94/326	chr10	TogoVar
AKR1C8_chr10_5148920_5190150	5162897	C C	T T	missense_variant missense_variant	MODERATE	NA18989.hp2 NA18989.hp2	a0013 a0013	a0013c0011 a0013c0011	a0013c0011t0001 a0013c0011t0001	a0013c0011t0001g0252 a0013c0011t0001g0252	1	408	0.0025	c.217 others(3): Show c.217G>A	p.Ala others(5): Show p.Ala73Thr	AKR1C8	ENSG00000264006.9	transcript	ENST00000648824.2	protein_coding	2/9	263/1247	217/981	73/326	chr10	TogoVar
AKR1C8_chr10_5148920_5190150	5162965	C C	T T	missense_variant missense_variant	MODERATE	HG00323.hp1 HG00642.hp2 HG00738.hp1 others(42): Show HG00323.hp1 HG00642.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp2 HG01099.hp2 HG01106.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01261.hp2 HG01515.hp2 HG01928.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02486.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03130.hp2 HG03490.hp1 HG04115.hp1 HG04204.hp1 HG04228.hp2 NA18522.hp2 NA19030.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0008 a0009 a0002 a0008 a0009	a0002c0003 a0008c0009 a0009c0010 a0002c0003 a0008c0009 a0009c0010	a0002c0003t0001 a0002c0003t0006 a0008c0009t0001 others(1): Show a0002c0003t0001 a0002c0003t0006 a0008c0009t0001 a0009c0010t0001	a0002c0003t0001g0016 a0002c0003t0001g0024 a0002c0003t0001g0053 others(32): Show a0002c0003t0001g0016 a0002c0003t0001g0024 a0002c0003t0001g0053 a0002c0003t0001g0054 a0002c0003t0001g0055 a0002c0003t0001g0056 a0002c0003t0001g0057 a0002c0003t0001g0224 a0002c0003t0001g0225 a0002c0003t0001g0226 a0002c0003t0001g0227 a0002c0003t0001g0228 a0002c0003t0001g0229 a0002c0003t0001g0230 a0002c0003t0001g0231 a0002c0003t0001g0232 a0002c0003t0001g0233 a0002c0003t0001g0234 a0002c0003t0001g0235 a0002c0003t0001g0236 a0002c0003t0001g0237 a0002c0003t0001g0238 a0002c0003t0001g0240 a0002c0003t0001g0243 a0002c0003t0001g0244 a0002c0003t0001g0245 a0002c0003t0001g0246 a0002c0003t0001g0247 a0002c0003t0001g0248 a0002c0003t0001g0249 a0002c0003t0001g0250 a0002c0003t0001g0251 a0002c0003t0006g0239 a0008c0009t0001g0162 a0009c0010t0001g0163	45	408	0.1103	c.149 others(3): Show c.149G>A	p.Arg others(5): Show p.Arg50His	AKR1C8	ENSG00000264006.9	transcript	ENST00000648824.2	protein_coding	2/9	195/1247	149/981	50/326	chr10	TogoVar
AKR1C8_chr10_5148920_5190150	5162999	C C	T T	missense_variant missense_variant	MODERATE	HG02970.hp2 HG03098.hp2 HG02970.hp2 HG03098.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0068 a0006c0008t0001g0214 a0006c0008t0001g0068 a0006c0008t0001g0214	2	408	0.0049	c.115 others(3): Show c.115G>A	p.Glu others(5): Show p.Glu39Lys	AKR1C8	ENSG00000264006.9	transcript	ENST00000648824.2	protein_coding	2/9	161/1247	115/981	39/326	chr10	TogoVar
AKR1C8_chr10_5148920_5190150	5163019	G G	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03209.hp1 HG03209.hp1	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0003 a0007c0016t0003	a0007c0016t0003g0070 a0007c0016t0003g0070	1	408	0.0025	c.95C others(2): Show c.95C>G	p.Thr others(5): Show p.Thr32Ser	AKR1C8	ENSG00000264006.9	transcript	ENST00000648824.2	protein_coding	2/9	141/1247	95/981	32/326	chr10	TogoVar
AKR1D1_chr7_138071459_138123305	138091862	T T	C C	missense_variant missense_variant	MODERATE	HG01099.hp2 HG01099.hp2	a0007 a0007	a0007c0003 a0007c0003	a0007c0003t0001 a0007c0003t0001	a0007c0003t0001g0310 a0007c0003t0001g0310	1	426	0.0024	c.356 others(3): Show c.356T>C	p.Ile others(6): Show p.Ile119Thr	AKR1D1	ENSG00000122787.15	transcript	ENST00000242375.8	protein_coding	3/9	416/2684	356/981	119/326	chr7	TogoVar
AKR1D1_chr7_138071459_138123305	138097943	G G	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01257.hp1 HG01257.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0023 a0002c0004t0002g0023	1	426	0.0024	c.456 others(3): Show c.456G>C	p.Glu others(6): Show p.Glu152Asp	AKR1D1	ENSG00000122787.15	transcript	ENST00000242375.8	protein_coding	4/9	516/2684	456/981	152/326	chr7	TogoVar
AKR1D1_chr7_138071459_138123305	138105311	T T	C C	missense_variant missense_variant	MODERATE	HG01952.hp1 HG01952.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0056 a0006c0005t0056	a0006c0005t0056g0008 a0006c0005t0056g0008	1	426	0.0024	c.461 others(3): Show c.461T>C	p.Met others(6): Show p.Met154Thr	AKR1D1	ENSG00000122787.15	transcript	ENST00000242375.8	protein_coding	5/9	521/2684	461/981	154/326	chr7	TogoVar
AKR1D1_chr7_138071459_138123305	138107507	G G	A A	missense_variant missense_variant	MODERATE	NA19090.hp1 NA19090.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0126 a0003c0007t0001g0126	1	426	0.0024	c.782 others(3): Show c.782G>A	p.Arg others(6): Show p.Arg261His	AKR1D1	ENSG00000122787.15	transcript	ENST00000242375.8	protein_coding	7/9	842/2684	782/981	261/326	chr7	TogoVar
AKR1D1_chr7_138071459_138123305	138107522	G G	A A	missense_variant missense_variant	MODERATE	HG00673.hp2 HG00673.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0003 a0004c0008t0003	a0004c0008t0003g0079 a0004c0008t0003g0079	1	426	0.0024	c.797 others(3): Show c.797G>A	p.Arg others(6): Show p.Arg266Gln	AKR1D1	ENSG00000122787.15	transcript	ENST00000242375.8	protein_coding	7/9	857/2684	797/981	266/326	chr7	TogoVar
AKR1D1_chr7_138071459_138123305	138107563	A A	T T	missense_variant missense_variant	MODERATE	NA18993.hp2 NA18993.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0156 a0005c0009t0001g0156	1	426	0.0024	c.838 others(3): Show c.838A>T	p.Ile others(6): Show p.Ile280Phe	AKR1D1	ENSG00000122787.15	transcript	ENST00000242375.8	protein_coding	7/9	898/2684	838/981	280/326	chr7	TogoVar
AKR1E2_chr10_4821207_4853062	4830696	G G	A A	missense_variant missense_variant	MODERATE	HG02735.hp2 HG02735.hp2	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0001 a0009c0008t0001	a0009c0008t0001g0113 a0009c0008t0001g0113	1	358	0.0028	c.61G others(2): Show c.61G>A	p.Glu others(5): Show p.Glu21Lys	AKR1E2	ENSG00000165568.18	transcript	ENST00000298375.12	protein_coding	2/10	179/1613	61/963	21/320	chr10	TogoVar
AKR1E2_chr10_4821207_4853062	4830738	G G	A A	missense_variant missense_variant	MODERATE	HG00735.hp1 HG00741.hp1 HG01070.hp2 others(8): Show HG00735.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01167.hp2 HG01169.hp2 HG01433.hp2 HG02723.hp2 HG03540.hp2 NA18906.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0004 a0004c0003t0004	a0004c0003t0004g0010 a0004c0003t0004g0020 a0004c0003t0004g0041 others(2): Show a0004c0003t0004g0010 a0004c0003t0004g0020 a0004c0003t0004g0041 a0004c0003t0004g0042 a0004c0003t0004g0043	11	358	0.0307	c.103 others(3): Show c.103G>A	p.Asp others(5): Show p.Asp35Asn	AKR1E2	ENSG00000165568.18	transcript	ENST00000298375.12	protein_coding	2/10	221/1613	103/963	35/320	chr10	TogoVar
AKR1E2_chr10_4821207_4853062	4830789	T T	G G	missense_variant missense_variant	MODERATE	HG02717.hp1 HG02922.hp1 HG02717.hp1 HG02922.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0002 a0007c0007t0002	a0007c0007t0002g0031 a0007c0007t0002g0031	2	358	0.0056	c.154 others(3): Show c.154T>G	p.Cys others(5): Show p.Cys52Gly	AKR1E2	ENSG00000165568.18	transcript	ENST00000298375.12	protein_coding	2/10	272/1613	154/963	52/320	chr10	TogoVar
AKR1E2_chr10_4821207_4853062	4833399	A A	G G	missense_variant missense_variant	MODERATE	HG00642.hp1 HG00741.hp2 HG01106.hp2 others(26): Show HG00642.hp1 HG00741.hp2 HG01106.hp2 HG02015.hp1 HG02129.hp1 HG02155.hp2 HG03453.hp2 NA18612.hp1 NA18941.hp1 NA18946.hp1 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp2 NA18961.hp2 NA18964.hp1 NA18971.hp2 NA18977.hp1 NA18981.hp1 NA18988.hp2 NA18994.hp1 NA19010.hp2 NA19064.hp1 NA19077.hp2 NA19082.hp2 NA19085.hp2 NA19091.hp1 NA19091.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0012 a0002c0002t0014 a0002c0002t0003 a0002c0002t0012 a0002c0002t0014	a0002c0002t0003g0008 a0002c0002t0003g0015 a0002c0002t0003g0016 others(14): Show a0002c0002t0003g0008 a0002c0002t0003g0015 a0002c0002t0003g0016 a0002c0002t0003g0024 a0002c0002t0003g0025 a0002c0002t0003g0046 a0002c0002t0003g0047 a0002c0002t0003g0048 a0002c0002t0003g0049 a0002c0002t0003g0050 a0002c0002t0003g0051 a0002c0002t0003g0052 a0002c0002t0003g0053 a0002c0002t0003g0054 a0002c0002t0003g0055 a0002c0002t0012g0015 a0002c0002t0014g0016	29	358	0.0810	c.257 others(3): Show c.257A>G	p.Lys others(5): Show p.Lys86Arg	AKR1E2	ENSG00000165568.18	transcript	ENST00000298375.12	protein_coding	3/10	375/1613	257/963	86/320	chr10	TogoVar
AKR1E2_chr10_4821207_4853062	4835679	C C	G G	missense_variant missense_variant	MODERATE	HG02559.hp2 HG02622.hp1 HG02886.hp1 others(1): Show HG02559.hp2 HG02622.hp1 HG02886.hp1 HG03195.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0006 a0005c0005t0006	a0005c0005t0006g0022 a0005c0005t0006g0109 a0005c0005t0006g0022 a0005c0005t0006g0109	4	358	0.0112	c.329 others(3): Show c.329C>G	p.Pro others(6): Show p.Pro110Arg	AKR1E2	ENSG00000165568.18	transcript	ENST00000298375.12	protein_coding	4/10	447/1613	329/963	110/320	chr10	TogoVar
AKR1E2_chr10_4821207_4853062	4835787	C C	G G	missense_variant missense_variant	MODERATE	HG04228.hp2 HG04228.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0093 a0008c0010t0001g0093	1	358	0.0028	c.437 others(3): Show c.437C>G	p.Thr others(6): Show p.Thr146Arg	AKR1E2	ENSG00000165568.18	transcript	ENST00000298375.12	protein_coding	4/10	555/1613	437/963	146/320	chr10	TogoVar
AKR1E2_chr10_4821207_4853062	4847493	A A	G G	missense_variant missense_variant	MODERATE	NA18992.hp2 NA19009.hp2 NA19066.hp2 NA18992.hp2 NA19009.hp2 NA19066.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0013 a0006c0006t0001g0013	3	358	0.0084	c.926 others(3): Show c.926A>G	p.Lys others(6): Show p.Lys309Arg	AKR1E2	ENSG00000165568.18	transcript	ENST00000298375.12	protein_coding	10/10	1044/1613	926/963	309/320	chr10	TogoVar
AKR7A2_chr1_19298965_19317144	19304370	G G	A A	missense_variant missense_variant	MODERATE	HG01891.hp1 HG02886.hp2 HG03209.hp2 others(1): Show HG01891.hp1 HG02886.hp2 HG03209.hp2 HG03225.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0019 a0007c0008t0001g0019	4	460	0.0087	c.935 others(3): Show c.935C>T	p.Ala others(6): Show p.Ala312Val	AKR7A2	ENSG00000053371.13	transcript	ENST00000235835.8	protein_coding	7/7	955/1360	935/1080	312/359	chr1	TogoVar
AKR7A2_chr1_19298965_19317144	19306047	G G	A A	missense_variant missense_variant	MODERATE	HG02148.hp2 HG02148.hp2	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0001 a0012c0016t0001	a0012c0016t0001g0077 a0012c0016t0001g0077	1	460	0.0022	c.889 others(3): Show c.889C>T	p.Arg others(6): Show p.Arg297Trp	AKR7A2	ENSG00000053371.13	transcript	ENST00000235835.8	protein_coding	6/7	909/1360	889/1080	297/359	chr1	TogoVar

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