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
ACOX3_chr4_8361282_8445723	8416421	T T	G G	missense_variant missense_variant	MODERATE	HG03831.hp2 HG03831.hp2	a0004 a0004	a0004c0023 a0004c0023	a0004c0023t0002 a0004c0023t0002	a0004c0023t0002g0363 a0004c0023t0002g0363	1	380	0.0026	c.101 others(3): Show c.101A>C	p.Glu others(5): Show p.Glu34Ala	ACOX3	ENSG00000087008.16	transcript	ENST00000356406.10	protein_coding	2/18	191/2872	101/2103	34/700	chr4	TogoVar
ACOXL_chr2_110727573_111123548	110799040	C C	T T	missense_variant missense_variant	MODERATE	HG02257.hp2 HG02257.hp2	a0014 a0014	a0014c0020 a0014c0020	a0014c0020t0001 a0014c0020t0001	a0014c0020t0001g0002 a0014c0020t0001g0002	1	150	0.0067	c.487 others(3): Show c.487C>T	p.Arg others(6): Show p.Arg163Trp	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	7/18	711/2699	487/1743	163/580	chr2	TogoVar
ACOXL_chr2_110727573_111123548	110801654	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03669.hp2 HG03669.hp2	a0013 a0013	a0013c0011 a0013c0011	a0013c0011t0001 a0013c0011t0001	a0013c0011t0001g0130 a0013c0011t0001g0130	1	150	0.0067	c.550 others(3): Show c.550C>A	p.Leu others(6): Show p.Leu184Met	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	8/18	774/2699	550/1743	184/580	chr2	TogoVar
ACOXL_chr2_110727573_111123548	110805298	C C	T T	missense_variant missense_variant	MODERATE	HG00099.hp2 HG02735.hp1 HG00099.hp2 HG02735.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0092 a0007c0009t0001g0106 a0007c0009t0001g0092 a0007c0009t0001g0106	2	150	0.0133	c.656 others(3): Show c.656C>T	p.Ser others(6): Show p.Ser219Leu	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	9/18	880/2699	656/1743	219/580	chr2	TogoVar
ACOXL_chr2_110727573_111123548	110841381	C C	T T	missense_variant missense_variant	MODERATE	HG00423.hp1 HG00673.hp1 HG01167.hp1 others(23): Show HG00423.hp1 HG00673.hp1 HG01167.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG02109.hp1 HG02145.hp2 HG02615.hp1 HG03195.hp2 HG03239.hp1 HG03471.hp2 HG06807.hp2 NA18612.hp2 NA18906.hp2 NA18956.hp2 NA18974.hp1 NA19011.hp1 NA19011.hp2 NA19043.hp2 NA19062.hp2 NA19240.hp1 homoSapiens_chm13v2.hp1	a0002 a0005 a0008 a0002 a0005 a0008	a0002c0002 a0002c0019 a0005c0007 others(1): Show a0002c0002 a0002c0019 a0005c0007 a0008c0008	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(6): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0019t0001 a0005c0007t0001 a0005c0007t0002 a0005c0007t0004 a0008c0008t0001	a0002c0002t0001g0019 a0002c0002t0001g0023 a0002c0002t0001g0051 others(23): Show a0002c0002t0001g0019 a0002c0002t0001g0023 a0002c0002t0001g0051 a0002c0002t0001g0054 a0002c0002t0001g0061 a0002c0002t0001g0066 a0002c0002t0001g0099 a0002c0002t0001g0103 a0002c0002t0001g0114 a0002c0002t0001g0132 a0002c0002t0001g0135 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0059 a0002c0002t0002g0119 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0003g0139 a0002c0002t0003g0142 a0002c0002t0004g0141 a0002c0019t0001g0095 a0005c0007t0001g0062 a0005c0007t0002g0050 a0005c0007t0004g0144 a0008c0008t0001g0015 a0008c0008t0001g0016	26	150	0.1733	c.764 others(3): Show c.764C>T	p.Thr others(6): Show p.Thr255Met	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	10/18	988/2699	764/1743	255/580	chr2	TogoVar
ACOXL_chr2_110727573_111123548	110908790	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02897.hp2 HG02976.hp1 HG03516.hp2 others(1): Show HG02897.hp2 HG02976.hp1 HG03516.hp2 NA19030.hp2	a0006 a0012 a0006 a0012	a0006c0006 a0012c0018 a0006c0006 a0012c0018	a0006c0006t0001 a0006c0006t0002 a0012c0018t0001 a0006c0006t0001 a0006c0006t0002 a0012c0018t0001	a0006c0006t0001g0001 a0006c0006t0001g0136 a0006c0006t0002g0146 others(1): Show a0006c0006t0001g0001 a0006c0006t0001g0136 a0006c0006t0002g0146 a0012c0018t0001g0053	4	150	0.0267	c.790 others(3): Show c.790C>T	p.Arg others(6): Show p.Arg264Trp	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	11/18	1014/2699	790/1743	264/580	chr2	TogoVar
ACOXL_chr2_110727573_111123548	110995975	C C	T T	missense_variant missense_variant	MODERATE	HG02258.hp1 HG02258.hp1	a0011 a0011	a0011c0010 a0011c0010	a0011c0010t0002 a0011c0010t0002	a0011c0010t0002g0009 a0011c0010t0002g0009	1	150	0.0067	c.125 others(4): Show c.1252C>T	p.Arg others(6): Show p.Arg418Trp	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	14/18	1476/2699	1252/1743	418/580	chr2	TogoVar
ACOXL_chr2_110727573_111123548	111092935	C C	T T	missense_variant missense_variant	MODERATE	HG04115.hp1 HG04115.hp1	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0001 a0009c0016t0001	a0009c0016t0001g0112 a0009c0016t0001g0112	1	150	0.0067	c.151 others(4): Show c.1511C>T	p.Thr others(6): Show p.Thr504Ile	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	17/18	1735/2699	1511/1743	504/580	chr2	TogoVar
ACOXL_chr2_110727573_111123548	111092938	C C	T T	missense_variant missense_variant	MODERATE	HG00423.hp2 HG00438.hp1 HG00673.hp1 others(10): Show HG00423.hp2 HG00438.hp1 HG00673.hp1 HG01175.hp2 HG01496.hp1 HG01981.hp1 HG02040.hp2 HG02080.hp2 NA18906.hp2 NA18962.hp1 NA18993.hp2 NA19002.hp1 NA19062.hp1	a0003 a0005 a0003 a0005	a0003c0004 a0005c0007 a0003c0004 a0005c0007	a0003c0004t0001 a0003c0004t0002 a0003c0004t0003 others(4): Show a0003c0004t0001 a0003c0004t0002 a0003c0004t0003 a0003c0004t0004 a0005c0007t0001 a0005c0007t0002 a0005c0007t0004	a0003c0004t0001g0026 a0003c0004t0001g0027 a0003c0004t0001g0030 others(10): Show a0003c0004t0001g0026 a0003c0004t0001g0027 a0003c0004t0001g0030 a0003c0004t0001g0064 a0003c0004t0001g0093 a0003c0004t0002g0069 a0003c0004t0002g0079 a0003c0004t0002g0098 a0003c0004t0003g0143 a0003c0004t0004g0140 a0005c0007t0001g0062 a0005c0007t0002g0050 a0005c0007t0004g0144	13	150	0.0867	c.151 others(4): Show c.1514C>T	p.Pro others(6): Show p.Pro505Leu	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	17/18	1738/2699	1514/1743	505/580	chr2	TogoVar
ACOXL_chr2_110727573_111123548	111117797	A A	G G	missense_variant missense_variant	MODERATE	NA19030.hp2 NA19030.hp2	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0001 a0012c0018t0001	a0012c0018t0001g0053 a0012c0018t0001g0053	1	150	0.0067	c.172 others(4): Show c.1724A>G	p.Lys others(6): Show p.Lys575Arg	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	18/18	1948/2699	1724/1743	575/580	chr2	TogoVar
ACP1_chr2_259947_283283	264975	A A	G G	missense_variant missense_variant	MODERATE	HG02258.hp2 HG02258.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0003 a0005c0007t0003	a0005c0007t0003g0027 a0005c0007t0003g0027	1	390	0.0026	c.11A others(2): Show c.11A>G	p.Gln others(4): Show p.Gln4Arg	ACP1	ENSG00000143727.16	transcript	ENST00000272065.10	protein_coding	1/6	29/1474	11/477	4/158	chr2	TogoVar
ACP1_chr2_259947_283283	264985	G G	T T	missense_variant missense_variant	MODERATE	HG02055.hp1 HG02055.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0072 a0004c0005t0001g0072	1	390	0.0026	c.21G others(2): Show c.21G>T	p.Lys others(4): Show p.Lys7Asn	ACP1	ENSG00000143727.16	transcript	ENST00000272065.10	protein_coding	1/6	39/1474	21/477	7/158	chr2	TogoVar
ACP1_chr2_259947_283283	272145	C C	T T	missense_variant missense_variant	MODERATE	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0001 a0003c0003t0001g0001	2	390	0.0051	c.226 others(3): Show c.226C>T	p.Arg others(5): Show p.Arg76Trp	ACP1	ENSG00000143727.16	transcript	ENST00000272065.10	protein_coding	3/6	244/1474	226/477	76/158	chr2	TogoVar
ACP1_chr2_259947_283283	277003	A A	G G	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(97): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00639.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01123.hp1 HG01168.hp1 HG01175.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG01891.hp1 HG01928.hp2 HG01975.hp1 HG01981.hp1 HG02004.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02129.hp2 HG02257.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02683.hp2 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02896.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03579.hp1 HG03654.hp1 HG03710.hp2 HG03831.hp1 HG04199.hp1 HG04204.hp1 NA18939.hp1 NA18943.hp1 NA18956.hp1 NA18962.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18978.hp1 NA18982.hp1 NA18984.hp2 NA18991.hp2 NA18993.hp1 NA18994.hp2 NA18998.hp1 NA19000.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19030.hp2 NA19058.hp2 NA19059.hp1 NA19067.hp2 NA19068.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19086.hp2 NA19087.hp2 NA19089.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0002t0001 a0002c0002t0002 a0002c0002t0006	a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0007 others(15): Show a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0019 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0037 a0002c0002t0001g0058 a0002c0002t0001g0074 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0002g0031 a0002c0002t0002g0080 a0002c0002t0006g0002	100	390	0.2564	c.317 others(3): Show c.317A>G	p.Gln others(6): Show p.Gln106Arg	ACP1	ENSG00000143727.16	transcript	ENST00000272065.10	protein_coding	5/6	335/1474	317/477	106/158	chr2	TogoVar
ACP2_chr11_47234302_47253814	47240241	C C	G G	missense_variant missense_variant	MODERATE	HG01243.hp1 HG01243.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0037 a0004c0004t0001g0037	1	358	0.0028	c.114 others(4): Show c.1147G>C	p.Val others(6): Show p.Val383Leu	ACP2	ENSG00000134575.13	transcript	ENST00000672073.1	protein_coding	11/11	1172/2111	1147/1272	383/423	chr11	TogoVar
ACP2_chr11_47234302_47253814	47242725	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02257.hp1 HG02257.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0060 a0003c0005t0001g0060	1	358	0.0028	c.113 others(4): Show c.1136C>T	p.Thr others(6): Show p.Thr379Ile	ACP2	ENSG00000134575.13	transcript	ENST00000672073.1	protein_coding	10/11	1161/2111	1136/1272	379/423	chr11	TogoVar
ACP2_chr11_47234302_47253814	47245701	A A	T T	missense_variant missense_variant	MODERATE	NA19091.hp1 NA19091.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0069 a0006c0007t0001g0069	1	358	0.0028	c.431 others(3): Show c.431T>A	p.Val others(6): Show p.Val144Glu	ACP2	ENSG00000134575.13	transcript	ENST00000672073.1	protein_coding	4/11	456/2111	431/1272	144/423	chr11	TogoVar
ACP2_chr11_47234302_47253814	47245824	C C	T T	missense_variant missense_variant	MODERATE	NA18995.hp1 NA18995.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0074 a0005c0006t0001g0074	1	358	0.0028	c.308 others(3): Show c.308G>A	p.Arg others(6): Show p.Arg103Gln	ACP2	ENSG00000134575.13	transcript	ENST00000672073.1	protein_coding	4/11	333/2111	308/1272	103/423	chr11	TogoVar
ACP2_chr11_47234302_47253814	47248704	C C	T T	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(193): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01261.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp2 HG01884.hp1 HG01934.hp2 HG01952.hp2 HG01978.hp1 HG02004.hp2 HG02040.hp1 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18949.hp1 NA18949.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18989.hp1 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18995.hp2 NA18999.hp1 NA19003.hp2 NA19005.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19058.hp1 NA19062.hp2 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp1 NA19084.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0003 a0003c0005 others(1): Show a0001c0001 a0001c0003 a0003c0005 a0004c0004	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0003t0003 a0003c0005t0001 a0004c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(53): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0005g0063 a0001c0001t0007g0047 a0001c0003t0003g0008 a0001c0003t0003g0024 a0001c0003t0003g0057 a0003c0005t0001g0060 a0004c0004t0001g0037	196	358	0.5475	c.86G others(2): Show c.86G>A	p.Arg others(5): Show p.Arg29Gln	ACP2	ENSG00000134575.13	transcript	ENST00000672073.1	protein_coding	1/11	111/2111	86/1272	29/423	chr11	TogoVar
ACP2_chr11_47234302_47253814	47248762	G G	A A	missense_variant missense_variant	MODERATE	NA20129.hp2 NA20129.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0002 a0007c0009t0002	a0007c0009t0002g0086 a0007c0009t0002g0086	1	358	0.0028	c.28C others(2): Show c.28C>T	p.Arg others(5): Show p.Arg10Trp	ACP2	ENSG00000134575.13	transcript	ENST00000672073.1	protein_coding	1/11	53/2111	28/1272	10/423	chr11	TogoVar
ACP3_chr3_132312407_132363841	132328288	A A	C C	missense_variant missense_variant	MODERATE	HG02074.hp2 HG02074.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0002 a0005c0009t0002	a0005c0009t0002g0093 a0005c0009t0002g0093	1	368	0.0027	c.142 others(3): Show c.142A>C	p.Ser others(5): Show p.Ser48Arg	ACP3	ENSG00000014257.17	transcript	ENST00000336375.10	protein_coding	2/10	192/3174	142/1161	48/386	chr3	TogoVar
ACP3_chr3_132312407_132363841	132350001	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00673.hp2 HG02056.hp1 HG00673.hp2 HG02056.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0235 a0004c0005t0001g0236 a0004c0005t0001g0235 a0004c0005t0001g0236	2	368	0.0054	c.863 others(3): Show c.863C>T	p.Ala others(6): Show p.Ala288Val	ACP3	ENSG00000014257.17	transcript	ENST00000336375.10	protein_coding	8/10	913/3174	863/1161	288/386	chr3	TogoVar
ACP3_chr3_132312407_132363841	132352758	T T	G G	missense_variant missense_variant	MODERATE	HG02647.hp2 HG02895.hp1 HG02897.hp1 others(2): Show HG02647.hp2 HG02895.hp1 HG02897.hp1 HG03453.hp1 HG06807.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0007 a0002c0004t0014 a0002c0004t0007 a0002c0004t0014	a0002c0004t0007g0129 a0002c0004t0014g0019 a0002c0004t0014g0135 others(1): Show a0002c0004t0007g0129 a0002c0004t0014g0019 a0002c0004t0014g0135 a0002c0004t0014g0137	5	368	0.0136	c.903 others(3): Show c.903T>G	p.Asp others(6): Show p.Asp301Glu	ACP3	ENSG00000014257.17	transcript	ENST00000336375.10	protein_coding	9/10	953/3174	903/1161	301/386	chr3	TogoVar
ACP3_chr3_132312407_132363841	132356745	T T	C C	missense_variant missense_variant	MODERATE	NA19057.hp1 NA19079.hp2 NA19057.hp1 NA19079.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0011 a0003c0006t0003 a0003c0006t0011	a0003c0006t0003g0207 a0003c0006t0011g0249 a0003c0006t0003g0207 a0003c0006t0011g0249	2	368	0.0054	c.102 others(4): Show c.1028T>C	p.Met others(6): Show p.Met343Thr	ACP3	ENSG00000014257.17	transcript	ENST00000336375.10	protein_coding	10/10	1078/3174	1028/1161	343/386	chr3	TogoVar
ACP4_chr19_50785415_50800219	50790841	C C	T T	missense_variant missense_variant	MODERATE	HG01099.hp2 HG02109.hp1 HG02145.hp1 others(4): Show HG01099.hp2 HG02109.hp1 HG02145.hp1 HG02559.hp1 HG03225.hp1 NA18906.hp2 NA20300.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0001 a0003c0004t0001g0004 a0003c0004t0001g0001 a0003c0004t0001g0004	7	380	0.0184	c.284 others(3): Show c.284C>T	p.Pro others(5): Show p.Pro95Leu	ACP4	ENSG00000142513.6	transcript	ENST00000270593.2	protein_coding	3/11	284/1342	284/1281	95/426	chr19	TogoVar
ACP4_chr19_50785415_50800219	50794568	G G	A A	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(137): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01934.hp1 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02129.hp1 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02300.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02683.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03139.hp2 HG03239.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19054.hp1 NA19056.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19090.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0007 others(16): Show a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0026 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0046 a0002c0002t0001g0048	140	380	0.3684	c.973 others(3): Show c.973G>A	p.Ala others(6): Show p.Ala325Thr	ACP4	ENSG00000142513.6	transcript	ENST00000270593.2	protein_coding	9/11	973/1342	973/1281	325/426	chr19	TogoVar
ACP4_chr19_50785415_50800219	50794569	C C	A A	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(137): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01934.hp1 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02129.hp1 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02300.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02683.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03139.hp2 HG03239.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19054.hp1 NA19056.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19090.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0007 others(16): Show a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0026 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0046 a0002c0002t0001g0048	140	380	0.3684	c.974 others(3): Show c.974C>A	p.Ala others(6): Show p.Ala325Asp	ACP4	ENSG00000142513.6	transcript	ENST00000270593.2	protein_coding	9/11	974/1342	974/1281	325/426	chr19	TogoVar
ACP4_chr19_50785415_50800219	50794578	G G	C C	missense_variant missense_variant	MODERATE	HG01192.hp1 HG01993.hp2 HG01192.hp1 HG01993.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0006 a0005c0007t0001g0006	2	380	0.0053	c.983 others(3): Show c.983G>C	p.Gly others(6): Show p.Gly328Ala	ACP4	ENSG00000142513.6	transcript	ENST00000270593.2	protein_coding	9/11	983/1342	983/1281	328/426	chr19	TogoVar
ACP5_chr19_11569660_11582645	11575186	T T	C C	missense_variant missense_variant	MODERATE	HG01175.hp2 HG01175.hp2	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0001 a0010c0016t0001	a0010c0016t0001g0084 a0010c0016t0001g0084	1	444	0.0023	c.802 others(3): Show c.802A>G	p.Lys others(6): Show p.Lys268Glu	ACP5	ENSG00000102575.14	transcript	ENST00000648477.1	protein_coding	5/5	855/1381	802/978	268/325	chr19	TogoVar
ACP5_chr19_11569660_11582645	11576317	C C	T T	missense_variant missense_variant	MODERATE	HG01109.hp1 HG01952.hp1 HG02055.hp1 others(22): Show HG01109.hp1 HG01952.hp1 HG02055.hp1 HG02257.hp2 HG02451.hp1 HG02486.hp2 HG02572.hp1 HG02717.hp1 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03540.hp2 HG03579.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0005 a0003c0002t0001g0008 a0003c0002t0001g0023 others(2): Show a0003c0002t0001g0005 a0003c0002t0001g0008 a0003c0002t0001g0023 a0003c0002t0001g0031 a0003c0002t0001g0042	25	444	0.0563	c.661 others(3): Show c.661G>A	p.Val others(6): Show p.Val221Ile	ACP5	ENSG00000102575.14	transcript	ENST00000648477.1	protein_coding	4/5	714/1381	661/978	221/325	chr19	TogoVar
ACP5_chr19_11569660_11582645	11576380	C C	T T	missense_variant missense_variant	MODERATE	HG00558.hp2 HG00673.hp1 HG00741.hp2 others(33): Show HG00558.hp2 HG00673.hp1 HG00741.hp2 HG01109.hp2 HG01175.hp1 HG01516.hp1 HG01517.hp2 HG01934.hp2 HG01975.hp2 HG02148.hp2 HG02155.hp2 HG02293.hp2 HG02683.hp2 HG02698.hp2 HG03490.hp2 HG03492.hp1 HG03669.hp2 HG03834.hp1 HG03927.hp2 NA18942.hp1 NA18959.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18971.hp2 NA18979.hp1 NA18987.hp2 NA18990.hp1 NA18993.hp1 NA18999.hp2 NA19002.hp2 NA19005.hp1 NA19054.hp1 NA19090.hp2 NA20752.hp2 NA20905.hp1	a0002 a0002	a0002c0003 a0002c0005 a0002c0003 a0002c0005	a0002c0003t0001 a0002c0005t0001 a0002c0003t0001 a0002c0005t0001	a0002c0003t0001g0004 a0002c0003t0001g0014 a0002c0003t0001g0029 others(6): Show a0002c0003t0001g0004 a0002c0003t0001g0014 a0002c0003t0001g0029 a0002c0003t0001g0079 a0002c0003t0001g0081 a0002c0005t0001g0015 a0002c0005t0001g0020 a0002c0005t0001g0050 a0002c0005t0001g0051	36	444	0.0811	c.598 others(3): Show c.598G>A	p.Val others(6): Show p.Val200Met	ACP5	ENSG00000102575.14	transcript	ENST00000648477.1	protein_coding	4/5	651/1381	598/978	200/325	chr19	TogoVar
ACP5_chr19_11569660_11582645	11576434	G G	A A	missense_variant missense_variant	MODERATE	HG02258.hp2 HG02258.hp2	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0001 a0009c0017t0001	a0009c0017t0001g0077 a0009c0017t0001g0077	1	444	0.0023	c.544 others(3): Show c.544C>T	p.Arg others(6): Show p.Arg182Cys	ACP5	ENSG00000102575.14	transcript	ENST00000648477.1	protein_coding	4/5	597/1381	544/978	182/325	chr19	TogoVar
ACP5_chr19_11569660_11582645	11576536	C C	T T	missense_variant missense_variant	MODERATE	HG00558.hp2 HG00673.hp1 HG00741.hp2 others(37): Show HG00558.hp2 HG00673.hp1 HG00741.hp2 HG01109.hp2 HG01175.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01934.hp2 HG01975.hp2 HG02148.hp2 HG02155.hp2 HG02293.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG03490.hp2 HG03492.hp1 HG03669.hp2 HG03834.hp1 HG03927.hp2 NA18942.hp1 NA18959.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18971.hp2 NA18979.hp1 NA18987.hp2 NA18990.hp1 NA18993.hp1 NA18999.hp2 NA19002.hp2 NA19005.hp1 NA19054.hp1 NA19090.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp2	a0002 a0004 a0002 a0004	a0002c0003 a0002c0005 a0004c0006 a0002c0003 a0002c0005 a0004c0006	a0002c0003t0001 a0002c0005t0001 a0004c0006t0001 a0002c0003t0001 a0002c0005t0001 a0004c0006t0001	a0002c0003t0001g0004 a0002c0003t0001g0014 a0002c0003t0001g0029 others(8): Show a0002c0003t0001g0004 a0002c0003t0001g0014 a0002c0003t0001g0029 a0002c0003t0001g0079 a0002c0003t0001g0081 a0002c0005t0001g0015 a0002c0005t0001g0020 a0002c0005t0001g0050 a0002c0005t0001g0051 a0004c0006t0001g0030 a0004c0006t0001g0080	40	444	0.0901	c.442 others(3): Show c.442G>A	p.Val others(6): Show p.Val148Met	ACP5	ENSG00000102575.14	transcript	ENST00000648477.1	protein_coding	4/5	495/1381	442/978	148/325	chr19	TogoVar
ACP5_chr19_11569660_11582645	11576789	C C	T T	missense_variant missense_variant	MODERATE	NA18942.hp2 NA18942.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0002 a0007c0012t0002	a0007c0012t0002g0048 a0007c0012t0002g0048	1	444	0.0023	c.316 others(3): Show c.316G>A	p.Val others(6): Show p.Val106Met	ACP5	ENSG00000102575.14	transcript	ENST00000648477.1	protein_coding	3/5	369/1381	316/978	106/325	chr19	TogoVar
ACP5_chr19_11569660_11582645	11576806	C C	T T	missense_variant missense_variant	MODERATE	HG02602.hp2 HG02602.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0002 a0006c0011t0002	a0006c0011t0002g0047 a0006c0011t0002g0047	1	444	0.0023	c.299 others(3): Show c.299G>A	p.Arg others(6): Show p.Arg100His	ACP5	ENSG00000102575.14	transcript	ENST00000648477.1	protein_coding	3/5	352/1381	299/978	100/325	chr19	TogoVar
ACP5_chr19_11569660_11582645	11576828	C C	T T	missense_variant missense_variant	MODERATE	HG02615.hp1 HG02615.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0046 a0005c0010t0001g0046	1	444	0.0023	c.277 others(3): Show c.277G>A	p.Val others(5): Show p.Val93Ile	ACP5	ENSG00000102575.14	transcript	ENST00000648477.1	protein_coding	3/5	330/1381	277/978	93/325	chr19	TogoVar
ACP5_chr19_11569660_11582645	11577310	A A	G G	missense_variant missense_variant	MODERATE	NA19055.hp1 NA19055.hp1	a0011 a0011	a0011c0008 a0011c0008	a0011c0008t0001 a0011c0008t0001	a0011c0008t0001g0086 a0011c0008t0001g0086	1	444	0.0023	c.8T> others(1): Show c.8T>C	p.Met others(4): Show p.Met3Thr	ACP5	ENSG00000102575.14	transcript	ENST00000648477.1	protein_coding	2/5	61/1381	8/978	3/325	chr19	TogoVar
ACP6_chr1_147637230_147675524	147647506	T T	C C	missense_variant missense_variant	MODERATE	HG02145.hp2 HG02818.hp1 HG02145.hp2 HG02818.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0022 a0004c0006t0022	a0004c0006t0022g0033 a0004c0006t0022g0033	2	404	0.0050	c.120 others(4): Show c.1204A>G	p.Met others(6): Show p.Met402Val	ACP6	ENSG00000162836.12	transcript	ENST00000583509.7	protein_coding	10/10	1680/6956	1204/1287	402/428	chr1	TogoVar
ACP6_chr1_147637230_147675524	147648394	G G	A A	missense_variant missense_variant	MODERATE	HG02145.hp2 HG02818.hp1 HG02145.hp2 HG02818.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0022 a0004c0006t0022	a0004c0006t0022g0033 a0004c0006t0022g0033	2	404	0.0050	c.995 others(3): Show c.995C>T	p.Ala others(6): Show p.Ala332Val	ACP6	ENSG00000162836.12	transcript	ENST00000583509.7	protein_coding	9/10	1471/6956	995/1287	332/428	chr1	TogoVar
ACP6_chr1_147637230_147675524	147650174	T T	C C	missense_variant missense_variant	MODERATE	HG02109.hp2 HG02257.hp1 HG02559.hp2 others(8): Show HG02109.hp2 HG02257.hp1 HG02559.hp2 HG02572.hp2 HG02717.hp2 HG02922.hp2 HG03139.hp1 HG03209.hp2 HG03579.hp1 NA18522.hp1 NA19240.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0007 a0002c0004t0048 a0002c0004t0007 a0002c0004t0048	a0002c0004t0007g0008 a0002c0004t0007g0104 a0002c0004t0007g0105 others(1): Show a0002c0004t0007g0008 a0002c0004t0007g0104 a0002c0004t0007g0105 a0002c0004t0048g0103	11	404	0.0272	c.946 others(3): Show c.946A>G	p.Met others(6): Show p.Met316Val	ACP6	ENSG00000162836.12	transcript	ENST00000583509.7	protein_coding	8/10	1422/6956	946/1287	316/428	chr1	TogoVar
ACP6_chr1_147637230_147675524	147650194	T T	C C	missense_variant missense_variant	MODERATE	NA18962.hp2 NA18962.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0168 a0005c0010t0001g0168	1	404	0.0025	c.926 others(3): Show c.926A>G	p.Glu others(6): Show p.Glu309Gly	ACP6	ENSG00000162836.12	transcript	ENST00000583509.7	protein_coding	8/10	1402/6956	926/1287	309/428	chr1	TogoVar
ACP6_chr1_147637230_147675524	147650195	C C	T T	missense_variant missense_variant	MODERATE	NA18962.hp2 NA18962.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0168 a0005c0010t0001g0168	1	404	0.0025	c.925 others(3): Show c.925G>A	p.Glu others(6): Show p.Glu309Lys	ACP6	ENSG00000162836.12	transcript	ENST00000583509.7	protein_coding	8/10	1401/6956	925/1287	309/428	chr1	TogoVar
ACP6_chr1_147637230_147675524	147654322	G G	A A	missense_variant missense_variant	MODERATE	HG01175.hp2 HG01175.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0002 a0006c0012t0002	a0006c0012t0002g0116 a0006c0012t0002g0116	1	404	0.0025	c.652 others(3): Show c.652C>T	p.Arg others(6): Show p.Arg218Trp	ACP6	ENSG00000162836.12	transcript	ENST00000583509.7	protein_coding	6/10	1128/6956	652/1287	218/428	chr1	TogoVar
ACP6_chr1_147637230_147675524	147659696	G G	A A	missense_variant missense_variant	MODERATE	HG03225.hp1 NA19090.hp1 HG03225.hp1 NA19090.hp1	a0003 a0003	a0003c0013 a0003c0014 a0003c0013 a0003c0014	a0003c0013t0002 a0003c0014t0001 a0003c0013t0002 a0003c0014t0001	a0003c0013t0002g0083 a0003c0014t0001g0162 a0003c0013t0002g0083 a0003c0014t0001g0162	2	404	0.0050	c.299 others(3): Show c.299C>T	p.Pro others(6): Show p.Pro100Leu	ACP6	ENSG00000162836.12	transcript	ENST00000583509.7	protein_coding	2/10	775/6956	299/1287	100/428	chr1	TogoVar
ACP7_chr19_39079368_39116493	39098602	G G	T T	missense_variant missense_variant	MODERATE	HG02055.hp1 HG02055.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0006 a0003c0013t0006	a0003c0013t0006g0108 a0003c0013t0006g0108	1	402	0.0025	c.266 others(3): Show c.266G>T	p.Arg others(5): Show p.Arg89Leu	ACP7	ENSG00000183760.11	transcript	ENST00000331256.10	protein_coding	3/13	477/2903	266/1317	89/438	chr19	TogoVar
ACP7_chr19_39079368_39116493	39099046	G G	A A	missense_variant missense_variant	MODERATE	HG01981.hp2 HG01981.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0001 a0006c0014t0001	a0006c0014t0001g0382 a0006c0014t0001g0382	1	402	0.0025	c.409 others(3): Show c.409G>A	p.Ala others(6): Show p.Ala137Thr	ACP7	ENSG00000183760.11	transcript	ENST00000331256.10	protein_coding	4/13	620/2903	409/1317	137/438	chr19	TogoVar
ACP7_chr19_39079368_39116493	39099075	C C	A A	missense_variant missense_variant	MODERATE	NA18986.hp2 NA18986.hp2	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0004 a0004c0015t0004	a0004c0015t0004g0055 a0004c0015t0004g0055	1	402	0.0025	c.438 others(3): Show c.438C>A	p.Asn others(6): Show p.Asn146Lys	ACP7	ENSG00000183760.11	transcript	ENST00000331256.10	protein_coding	4/13	649/2903	438/1317	146/438	chr19	TogoVar
ACP7_chr19_39079368_39116493	39099091	C C	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0013 a0005c0016t0013	a0005c0016t0013g0257 a0005c0016t0013g0257	1	402	0.0025	c.454 others(3): Show c.454C>T	p.Arg others(6): Show p.Arg152Trp	ACP7	ENSG00000183760.11	transcript	ENST00000331256.10	protein_coding	4/13	665/2903	454/1317	152/438	chr19	TogoVar
ACP7_chr19_39079368_39116493	39101189	G G	T T	missense_variant missense_variant	MODERATE	HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0004 a0002c0011t0004	a0002c0011t0004g0047 a0002c0011t0004g0072 a0002c0011t0004g0076 a0002c0011t0004g0047 a0002c0011t0004g0072 a0002c0011t0004g0076	3	402	0.0075	c.955 others(3): Show c.955G>T	p.Asp others(6): Show p.Asp319Tyr	ACP7	ENSG00000183760.11	transcript	ENST00000331256.10	protein_coding	9/13	1166/2903	955/1317	319/438	chr19	TogoVar
ACRBP_chr12_6633075_6652432	6643610	T T	C C	missense_variant missense_variant	MODERATE	HG00438.hp2 NA18944.hp1 NA18960.hp2 others(5): Show HG00438.hp2 NA18944.hp1 NA18960.hp2 NA18980.hp1 NA19002.hp2 NA19009.hp1 NA19066.hp2 NA19083.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0008 a0002c0003t0001g0047 a0002c0003t0001g0008 a0002c0003t0001g0047	8	422	0.0190	c.100 others(4): Show c.1006A>G	p.Thr others(6): Show p.Thr336Ala	ACRBP	ENSG00000111644.8	transcript	ENST00000229243.7	protein_coding	6/10	1072/1905	1006/1632	336/543	chr12	TogoVar

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