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
ABCC3_chr17_50629881_50697253	50673022	G G	C C	missense_variant missense_variant	MODERATE	HG01069.hp2 HG01891.hp1 HG02280.hp2 others(4): Show HG01069.hp2 HG01891.hp1 HG02280.hp2 HG02572.hp2 HG02630.hp1 HG03579.hp2 HG06807.hp1	a0004 a0004	a0004c0007 a0004c0023 a0004c0007 a0004c0023	a0004c0007t0001 a0004c0023t0001 a0004c0007t0001 a0004c0023t0001	a0004c0007t0001g0005 a0004c0007t0001g0058 a0004c0007t0001g0060 others(4): Show a0004c0007t0001g0005 a0004c0007t0001g0058 a0004c0007t0001g0060 a0004c0007t0001g0118 a0004c0007t0001g0119 a0004c0007t0001g0203 a0004c0023t0001g0004	7	342	0.0205	c.229 others(4): Show c.2293G>C	p.Val others(6): Show p.Val765Leu	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	18/31	2349/5693	2293/4584	765/1527	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50675674	C C	T T	missense_variant missense_variant	MODERATE	HG01081.hp2 HG01891.hp2 HG02559.hp2 others(9): Show HG01081.hp2 HG01891.hp2 HG02559.hp2 HG02922.hp1 HG02976.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 NA19043.hp1 NA19043.hp2 NA20300.hp1	a0002 a0002	a0002c0006 a0002c0010 a0002c0036 a0002c0006 a0002c0010 a0002c0036	a0002c0006t0001 a0002c0010t0001 a0002c0036t0001 a0002c0006t0001 a0002c0010t0001 a0002c0036t0001	a0002c0006t0001g0001 a0002c0006t0001g0003 a0002c0006t0001g0023 others(9): Show a0002c0006t0001g0001 a0002c0006t0001g0003 a0002c0006t0001g0023 a0002c0006t0001g0097 a0002c0006t0001g0104 a0002c0006t0001g0232 a0002c0006t0001g0334 a0002c0010t0001g0026 a0002c0010t0001g0065 a0002c0010t0001g0116 a0002c0010t0001g0247 a0002c0036t0001g0230	12	342	0.0351	c.275 others(4): Show c.2758C>T	p.Pro others(6): Show p.Pro920Ser	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	21/31	2814/5693	2758/4584	920/1527	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50676314	C C	T T	missense_variant missense_variant	MODERATE	HG02886.hp2 HG02886.hp2	a0022 a0022	a0022c0035 a0022c0035	a0022c0035t0001 a0022c0035t0001	a0022c0035t0001g0040 a0022c0035t0001g0040	1	342	0.0029	c.310 others(4): Show c.3104C>T	p.Ala others(7): Show p.Ala1035Val	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	23/31	3160/5693	3104/4584	1035/1527	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50676485	A A	G G	missense_variant missense_variant	MODERATE	HG00544.hp1 HG00544.hp1	a0021 a0021	a0021c0044 a0021c0044	a0021c0044t0001 a0021c0044t0001	a0021c0044t0001g0245 a0021c0044t0001g0245	1	342	0.0029	c.327 others(4): Show c.3275A>G	p.Asn others(7): Show p.Asn1092Ser	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	23/31	3331/5693	3275/4584	1092/1527	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50677825	A A	C C	missense_variant missense_variant	MODERATE	NA19060.hp1 NA19060.hp1	a0013 a0013	a0013c0034 a0013c0034	a0013c0034t0001 a0013c0034t0001	a0013c0034t0001g0144 a0013c0034t0001g0144	1	342	0.0029	c.346 others(4): Show c.3460A>C	p.Thr others(7): Show p.Thr1154Pro	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	24/31	3516/5693	3460/4584	1154/1527	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50677861	C C	T T	missense_variant missense_variant	MODERATE	HG02717.hp2 HG02717.hp2	a0014 a0014	a0014c0018 a0014c0018	a0014c0018t0001 a0014c0018t0001	a0014c0018t0001g0074 a0014c0018t0001g0074	1	342	0.0029	c.349 others(4): Show c.3496C>T	p.Arg others(7): Show p.Arg1166Cys	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	24/31	3552/5693	3496/4584	1166/1527	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50679829	T T	G G	missense_variant missense_variant	MODERATE	NA19060.hp1 NA19060.hp1	a0013 a0013	a0013c0034 a0013c0034	a0013c0034t0001 a0013c0034t0001	a0013c0034t0001g0144 a0013c0034t0001g0144	1	342	0.0029	c.373 others(4): Show c.3737T>G	p.Met others(7): Show p.Met1246Arg	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	26/31	3793/5693	3737/4584	1246/1527	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50683658	C C	G G	missense_variant missense_variant	MODERATE	HG02965.hp1 HG02965.hp1	a0016 a0016	a0016c0032 a0016c0032	a0016c0032t0001 a0016c0032t0001	a0016c0032t0001g0033 a0016c0032t0001g0033	1	342	0.0029	c.385 others(4): Show c.3856C>G	p.Arg others(7): Show p.Arg1286Gly	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	27/31	3912/5693	3856/4584	1286/1527	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50683692	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp1 HG01081.hp1 HG01106.hp2 others(5): Show HG00099.hp1 HG01081.hp1 HG01106.hp2 HG01168.hp2 HG01346.hp2 HG02055.hp1 HG02148.hp1 NA20805.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0078 a0003c0005t0002g0085 a0003c0005t0002g0277 others(5): Show a0003c0005t0002g0078 a0003c0005t0002g0085 a0003c0005t0002g0277 a0003c0005t0002g0297 a0003c0005t0002g0298 a0003c0005t0002g0300 a0003c0005t0002g0302 a0003c0005t0002g0303	8	342	0.0234	c.389 others(4): Show c.3890G>A	p.Arg others(7): Show p.Arg1297His	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	27/31	3946/5693	3890/4584	1297/1527	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50683751	G G	A A	missense_variant missense_variant	MODERATE	HG00621.hp2 HG00621.hp2	a0011 a0011	a0011c0040 a0011c0040	a0011c0040t0002 a0011c0040t0002	a0011c0040t0002g0056 a0011c0040t0002g0056	1	342	0.0029	c.394 others(4): Show c.3949G>A	p.Glu others(7): Show p.Glu1317Lys	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	27/31	4005/5693	3949/4584	1317/1527	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50683965	G G	A A	missense_variant missense_variant	MODERATE	HG03540.hp1 HG03540.hp1	a0017 a0017	a0017c0029 a0017c0029	a0017c0029t0001 a0017c0029t0001	a0017c0029t0001g0229 a0017c0029t0001g0229	1	342	0.0029	c.397 others(4): Show c.3971G>A	p.Arg others(7): Show p.Arg1324His	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	28/31	4027/5693	3971/4584	1324/1527	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50684024	A A	G G	missense_variant missense_variant	MODERATE	NA20905.hp2 NA20905.hp2	a0018 a0018	a0018c0031 a0018c0031	a0018c0031t0005 a0018c0031t0005	a0018c0031t0005g0283 a0018c0031t0005g0283	1	342	0.0029	c.403 others(4): Show c.4030A>G	p.Lys others(7): Show p.Lys1344Glu	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	28/31	4086/5693	4030/4584	1344/1527	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50684036	C C	T T	missense_variant missense_variant	MODERATE	HG02809.hp2 HG03098.hp2 HG03209.hp1 others(4): Show HG02809.hp2 HG03098.hp2 HG03209.hp1 HG03516.hp2 HG03540.hp2 NA20129.hp2 NA21309.hp1	a0005 a0009 a0005 a0009	a0005c0008 a0009c0019 a0005c0008 a0009c0019	a0005c0008t0001 a0009c0019t0001 a0005c0008t0001 a0009c0019t0001	a0005c0008t0001g0002 a0005c0008t0001g0028 a0005c0008t0001g0029 others(4): Show a0005c0008t0001g0002 a0005c0008t0001g0028 a0005c0008t0001g0029 a0005c0008t0001g0030 a0005c0008t0001g0103 a0005c0008t0001g0313 a0009c0019t0001g0071	7	342	0.0205	c.404 others(4): Show c.4042C>T	p.Arg others(7): Show p.Arg1348Cys	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	28/31	4098/5693	4042/4584	1348/1527	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50684048	C C	T T	missense_variant missense_variant	MODERATE	HG02109.hp1 HG02615.hp2 HG02109.hp1 HG02615.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0003 a0007c0012t0003	a0007c0012t0003g0069 a0007c0012t0003g0304 a0007c0012t0003g0069 a0007c0012t0003g0304	2	342	0.0059	c.405 others(4): Show c.4054C>T	p.Leu others(7): Show p.Leu1352Phe	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	28/31	4110/5693	4054/4584	1352/1527	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50684088	A A	G G	missense_variant missense_variant	MODERATE	HG06807.hp2 HG06807.hp2	a0020 a0020	a0020c0030 a0020c0030	a0020c0030t0001 a0020c0030t0001	a0020c0030t0001g0337 a0020c0030t0001g0337	1	342	0.0029	c.409 others(4): Show c.4094A>G	p.Gln others(7): Show p.Gln1365Arg	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	28/31	4150/5693	4094/4584	1365/1527	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50684812	C C	T T	missense_variant missense_variant	MODERATE	NA19007.hp2 NA19007.hp2	a0019 a0019	a0019c0028 a0019c0028	a0019c0028t0001 a0019c0028t0001	a0019c0028t0001g0138 a0019c0028t0001g0138	1	342	0.0029	c.421 others(4): Show c.4217C>T	p.Thr others(7): Show p.Thr1406Met	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	29/31	4273/5693	4217/4584	1406/1527	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50684829	C C	A A	missense_variant missense_variant	MODERATE	HG02965.hp1 HG02965.hp1	a0016 a0016	a0016c0032 a0016c0032	a0016c0032t0001 a0016c0032t0001	a0016c0032t0001g0033 a0016c0032t0001g0033	1	342	0.0029	c.423 others(4): Show c.4234C>A	p.Pro others(7): Show p.Pro1412Thr	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	29/31	4290/5693	4234/4584	1412/1527	chr17	TogoVar
ABCC4_chr13_95014835_95306451	95053126	G G	A A	missense_variant missense_variant	MODERATE	HG03017.hp2 HG03017.hp2	a0013 a0013	a0013c0048 a0013c0048	a0013c0048t0021 a0013c0048t0021	a0013c0048t0021g0162 a0013c0048t0021g0162	1	248	0.0040	c.342 others(4): Show c.3425C>T	p.Thr others(7): Show p.Thr1142Met	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	27/31	3562/5855	3425/3978	1142/1325	chr13	TogoVar
ABCC4_chr13_95014835_95306451	95075540	C C	A A	missense_variant missense_variant	MODERATE	HG01074.hp2 HG01074.hp2	a0012 a0012	a0012c0037 a0012c0037	a0012c0037t0002 a0012c0037t0002	a0012c0037t0002g0112 a0012c0037t0002g0112	1	248	0.0040	c.269 others(4): Show c.2698G>T	p.Val others(6): Show p.Val900Leu	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	22/31	2835/5855	2698/3978	900/1325	chr13	TogoVar
ABCC4_chr13_95014835_95306451	95083266	C C	A A	missense_variant missense_variant	MODERATE	HG01255.hp1 HG02735.hp2 HG03239.hp2 others(1): Show HG01255.hp1 HG02735.hp2 HG03239.hp2 HG04115.hp1	a0006 a0006	a0006c0027 a0006c0038 a0006c0057 a0006c0027 a0006c0038 a0006c0057	a0006c0027t0002 a0006c0038t0002 a0006c0057t0001 a0006c0027t0002 a0006c0038t0002 a0006c0057t0001	a0006c0027t0002g0151 a0006c0027t0002g0194 a0006c0038t0002g0145 others(1): Show a0006c0027t0002g0151 a0006c0027t0002g0194 a0006c0038t0002g0145 a0006c0057t0001g0087	4	248	0.0161	c.256 others(4): Show c.2560G>T	p.Val others(6): Show p.Val854Phe	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	21/31	2697/5855	2560/3978	854/1325	chr13	TogoVar
ABCC4_chr13_95014835_95306451	95115977	T T	C C	missense_variant missense_variant	MODERATE	HG02970.hp2 HG02970.hp2	a0011 a0011	a0011c0056 a0011c0056	a0011c0056t0009 a0011c0056t0009	a0011c0056t0009g0090 a0011c0056t0009g0090	1	248	0.0040	c.248 others(4): Show c.2480A>G	p.Lys others(6): Show p.Lys827Arg	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	20/31	2617/5855	2480/3978	827/1325	chr13	TogoVar
ABCC4_chr13_95014835_95306451	95163161	C C	T T	missense_variant missense_variant	MODERATE	HG01192.hp1 HG02080.hp2 HG03017.hp1 others(17): Show HG01192.hp1 HG02080.hp2 HG03017.hp1 NA18948.hp2 NA18952.hp1 NA18966.hp1 NA18969.hp2 NA18971.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp2 NA19011.hp2 NA19057.hp1 NA19060.hp1 NA19065.hp1 NA19074.hp1 NA19079.hp2 NA19084.hp1 NA19088.hp1	a0003 a0005 a0010 others(1): Show a0003 a0005 a0010 a0016	a0003c0008 a0003c0016 a0003c0029 others(4): Show a0003c0008 a0003c0016 a0003c0029 a0005c0018 a0005c0019 a0010c0034 a0016c0073	a0003c0008t0001 a0003c0008t0002 a0003c0008t0010 others(10): Show a0003c0008t0001 a0003c0008t0002 a0003c0008t0010 a0003c0016t0001 a0003c0016t0002 a0003c0016t0008 a0003c0029t0001 a0003c0029t0002 a0005c0018t0001 a0005c0018t0002 a0005c0019t0002 a0010c0034t0001 a0016c0073t0001	a0003c0008t0001g0062 a0003c0008t0001g0099 a0003c0008t0001g0141 others(17): Show a0003c0008t0001g0062 a0003c0008t0001g0099 a0003c0008t0001g0141 a0003c0008t0001g0205 a0003c0008t0001g0208 a0003c0008t0002g0207 a0003c0008t0010g0214 a0003c0016t0001g0200 a0003c0016t0002g0228 a0003c0016t0008g0245 a0003c0029t0001g0213 a0003c0029t0002g0204 a0005c0018t0001g0212 a0005c0018t0002g0108 a0005c0018t0002g0236 a0005c0019t0002g0175 a0005c0019t0002g0215 a0005c0019t0002g0223 a0010c0034t0001g0001 a0016c0073t0001g0186	20	248	0.0807	c.226 others(4): Show c.2269G>A	p.Glu others(6): Show p.Glu757Lys	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	18/31	2406/5855	2269/3978	757/1325	chr13	TogoVar
ABCC4_chr13_95014835_95306451	95163200	T T	C C	missense_variant missense_variant	MODERATE	HG01109.hp1 HG01243.hp2 HG02258.hp1 others(1): Show HG01109.hp1 HG01243.hp2 HG02258.hp1 HG02559.hp1	a0007 a0015 a0007 a0015	a0007c0043 a0007c0069 a0007c0070 others(1): Show a0007c0043 a0007c0069 a0007c0070 a0015c0062	a0007c0043t0009 a0007c0069t0009 a0007c0070t0005 others(1): Show a0007c0043t0009 a0007c0069t0009 a0007c0070t0005 a0015c0062t0003	a0007c0043t0009g0097 a0007c0069t0009g0043 a0007c0070t0005g0054 others(1): Show a0007c0043t0009g0097 a0007c0069t0009g0043 a0007c0070t0005g0054 a0015c0062t0003g0013	4	248	0.0161	c.223 others(4): Show c.2230A>G	p.Met others(6): Show p.Met744Val	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	18/31	2367/5855	2230/3978	744/1325	chr13	TogoVar
ABCC4_chr13_95014835_95306451	95178045	C C	T T	missense_variant missense_variant	MODERATE	NA19079.hp1 NA19079.hp1	a0014 a0014	a0014c0058 a0014c0058	a0014c0058t0001 a0014c0058t0001	a0014c0058t0001g0218 a0014c0058t0001g0218	1	248	0.0040	c.159 others(4): Show c.1592G>A	p.Arg others(6): Show p.Arg531Gln	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	12/31	1729/5855	1592/3978	531/1325	chr13	TogoVar
ABCC4_chr13_95014835_95306451	95186754	T T	C C	missense_variant missense_variant	MODERATE	HG02970.hp2 HG02970.hp2	a0011 a0011	a0011c0056 a0011c0056	a0011c0056t0009 a0011c0056t0009	a0011c0056t0009g0090 a0011c0056t0009g0090	1	248	0.0040	c.149 others(4): Show c.1492A>G	p.Lys others(6): Show p.Lys498Glu	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	11/31	1629/5855	1492/3978	498/1325	chr13	TogoVar
ABCC4_chr13_95014835_95306451	95206781	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00438.hp1 HG00639.hp2 HG01256.hp1 others(51): Show HG00438.hp1 HG00639.hp2 HG01256.hp1 HG01433.hp1 HG01891.hp2 HG02055.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02280.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG02965.hp1 HG03098.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03491.hp1 HG04184.hp2 HG04204.hp2 NA18747.hp1 NA18906.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18977.hp1 NA18983.hp1 NA18988.hp1 NA18994.hp1 NA19005.hp2 NA19010.hp2 NA19030.hp2 NA19056.hp1 NA19057.hp2 NA19079.hp1 NA19088.hp1 NA19240.hp2	a0002 a0005 a0009 others(2): Show a0002 a0005 a0009 a0014 a0015	a0002c0004 a0002c0005 a0002c0015 others(13): Show a0002c0004 a0002c0005 a0002c0015 a0002c0020 a0002c0028 a0002c0059 a0002c0060 a0002c0061 a0002c0063 a0002c0064 a0002c0072 a0005c0018 a0005c0019 a0009c0033 a0014c0058 a0015c0062	a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 others(23): Show a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0008 a0002c0004t0010 a0002c0005t0001 a0002c0005t0002 a0002c0005t0013 a0002c0015t0001 a0002c0015t0007 a0002c0015t0011 a0002c0020t0004 a0002c0028t0005 a0002c0028t0010 a0002c0059t0006 a0002c0060t0004 a0002c0061t0003 a0002c0063t0001 a0002c0064t0006 a0002c0072t0002 a0005c0018t0001 a0005c0018t0002 a0005c0019t0002 a0009c0033t0017 a0014c0058t0001 a0015c0062t0003	a0002c0004t0001g0079 a0002c0004t0001g0140 a0002c0004t0001g0147 others(51): Show a0002c0004t0001g0079 a0002c0004t0001g0140 a0002c0004t0001g0147 a0002c0004t0001g0153 a0002c0004t0001g0182 a0002c0004t0002g0051 a0002c0004t0002g0052 a0002c0004t0002g0094 a0002c0004t0002g0100 a0002c0004t0002g0159 a0002c0004t0002g0193 a0002c0004t0002g0222 a0002c0004t0002g0234 a0002c0004t0003g0056 a0002c0004t0008g0241 a0002c0004t0010g0122 a0002c0005t0001g0102 a0002c0005t0002g0017 a0002c0005t0002g0049 a0002c0005t0002g0092 a0002c0005t0002g0093 a0002c0005t0002g0111 a0002c0005t0002g0146 a0002c0005t0002g0152 a0002c0005t0002g0158 a0002c0005t0002g0217 a0002c0005t0002g0232 a0002c0005t0002g0235 a0002c0005t0002g0239 a0002c0005t0013g0060 a0002c0015t0001g0025 a0002c0015t0007g0071 a0002c0015t0007g0091 a0002c0015t0011g0018 a0002c0020t0004g0016 a0002c0020t0004g0057 a0002c0020t0004g0130 a0002c0028t0005g0059 a0002c0028t0010g0014 a0002c0059t0006g0058 a0002c0060t0004g0022 a0002c0061t0003g0055 a0002c0063t0001g0070 a0002c0064t0006g0045 a0002c0072t0002g0041 a0005c0018t0001g0212 a0005c0018t0002g0108 a0005c0018t0002g0236 a0005c0019t0002g0175 a0005c0019t0002g0215 a0005c0019t0002g0223 a0009c0033t0017g0003 a0014c0058t0001g0218 a0015c0062t0003g0013	54	248	0.2177	c.912 others(3): Show c.912G>T	p.Lys others(6): Show p.Lys304Asn	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	8/31	1049/5855	912/3978	304/1325	chr13	TogoVar
ABCC4_chr13_95014835_95306451	95210754	C C	A A	missense_variant missense_variant	MODERATE	HG00438.hp2 HG01192.hp1 HG01361.hp2 others(10): Show HG00438.hp2 HG01192.hp1 HG01361.hp2 HG02129.hp1 HG03017.hp1 HG04199.hp2 NA18747.hp2 NA18969.hp1 NA18983.hp2 NA19011.hp1 NA19012.hp1 NA19056.hp2 NA19091.hp1	a0004 a0010 a0016 a0004 a0010 a0016	a0004c0006 a0004c0030 a0010c0034 others(1): Show a0004c0006 a0004c0030 a0010c0034 a0016c0073	a0004c0006t0001 a0004c0006t0002 a0004c0006t0015 others(3): Show a0004c0006t0001 a0004c0006t0002 a0004c0006t0015 a0004c0030t0002 a0010c0034t0001 a0016c0073t0001	a0004c0006t0001g0005 a0004c0006t0001g0104 a0004c0006t0001g0136 others(10): Show a0004c0006t0001g0005 a0004c0006t0001g0104 a0004c0006t0001g0136 a0004c0006t0001g0137 a0004c0006t0001g0157 a0004c0006t0001g0176 a0004c0006t0001g0192 a0004c0006t0002g0061 a0004c0006t0015g0105 a0004c0030t0002g0069 a0004c0030t0002g0156 a0010c0034t0001g0001 a0016c0073t0001g0186	13	248	0.0524	c.559 others(3): Show c.559G>T	p.Gly others(6): Show p.Gly187Trp	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	5/31	696/5855	559/3978	187/1325	chr13	TogoVar
ABCC4_chr13_95014835_95306451	95210762	A A	G G	missense_variant missense_variant	MODERATE	HG02615.hp1 HG02615.hp1	a0017 a0017	a0017c0035 a0017c0035	a0017c0035t0003 a0017c0035t0003	a0017c0035t0003g0148 a0017c0035t0003g0148	1	248	0.0040	c.551 others(3): Show c.551T>C	p.Met others(6): Show p.Met184Thr	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	5/31	688/5855	551/3978	184/1325	chr13	TogoVar
ABCC4_chr13_95014835_95306451	95301263	G G	T T	missense_variant missense_variant	MODERATE	HG02071.hp2 HG03017.hp1 HG03710.hp1 others(1): Show HG02071.hp2 HG03017.hp1 HG03710.hp1 NA18985.hp1	a0008 a0009 a0010 a0008 a0009 a0010	a0008c0031 a0008c0032 a0009c0033 others(1): Show a0008c0031 a0008c0032 a0009c0033 a0010c0034	a0008c0031t0002 a0008c0032t0001 a0009c0033t0017 others(1): Show a0008c0031t0002 a0008c0032t0001 a0009c0033t0017 a0010c0034t0001	a0008c0031t0002g0002 a0008c0032t0001g0004 a0009c0033t0017g0003 others(1): Show a0008c0031t0002g0002 a0008c0032t0001g0004 a0009c0033t0017g0003 a0010c0034t0001g0001	4	248	0.0161	c.52C others(2): Show c.52C>A	p.Leu others(5): Show p.Leu18Ile	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	1/31	189/5855	52/3978	18/1325	chr13	TogoVar
ABCC5_chr3_183914934_184022884	183942868	G G	A A	missense_variant missense_variant	MODERATE	NA18998.hp1 NA18998.hp1	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0001 a0005c0014t0001	a0005c0014t0001g0107 a0005c0014t0001g0107	1	378	0.0027	c.355 others(4): Show c.3553C>T	p.Pro others(7): Show p.Pro1185Ser	ABCC5	ENSG00000114770.17	transcript	ENST00000334444.11	protein_coding	25/30	3663/5790	3553/4314	1185/1437	chr3	TogoVar
ABCC5_chr3_183914934_184022884	183950120	C C	T T	missense_variant missense_variant	MODERATE	NA18980.hp1 NA18980.hp1	a0004 a0004	a0004c0021 a0004c0021	a0004c0021t0003 a0004c0021t0003	a0004c0021t0003g0212 a0004c0021t0003g0212	1	378	0.0027	c.295 others(4): Show c.2950G>A	p.Val others(6): Show p.Val984Met	ABCC5	ENSG00000114770.17	transcript	ENST00000334444.11	protein_coding	21/30	3060/5790	2950/4314	984/1437	chr3	TogoVar
ABCC5_chr3_183914934_184022884	183953210	A A	G G	missense_variant missense_variant	MODERATE	HG03453.hp2 HG03453.hp2	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0002 a0003c0017t0002	a0003c0017t0002g0327 a0003c0017t0002g0327	1	378	0.0027	c.254 others(4): Show c.2543T>C	p.Val others(6): Show p.Val848Ala	ABCC5	ENSG00000114770.17	transcript	ENST00000334444.11	protein_coding	18/30	2653/5790	2543/4314	848/1437	chr3	TogoVar
ABCC5_chr3_183914934_184022884	183963516	C C	T T	missense_variant missense_variant	MODERATE	HG02293.hp2 HG02293.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0099 a0007c0012t0001g0099	1	378	0.0027	c.210 others(4): Show c.2104G>A	p.Asp others(6): Show p.Asp702Asn	ABCC5	ENSG00000114770.17	transcript	ENST00000334444.11	protein_coding	15/30	2214/5790	2104/4314	702/1437	chr3	TogoVar
ABCC5_chr3_183914934_184022884	183971720	C C	T T	missense_variant missense_variant	MODERATE	HG01993.hp2 HG01993.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0077 a0002c0011t0001g0077	1	378	0.0027	c.160 others(4): Show c.1604G>A	p.Arg others(6): Show p.Arg535His	ABCC5	ENSG00000114770.17	transcript	ENST00000334444.11	protein_coding	11/30	1714/5790	1604/4314	535/1437	chr3	TogoVar
ABCC5_chr3_183914934_184022884	183971894	T T	C C	missense_variant missense_variant	MODERATE	HG01106.hp2 HG01106.hp2	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0001 a0008c0015t0001	a0008c0015t0001g0043 a0008c0015t0001g0043	1	378	0.0027	c.143 others(4): Show c.1430A>G	p.His others(6): Show p.His477Arg	ABCC5	ENSG00000114770.17	transcript	ENST00000334444.11	protein_coding	11/30	1540/5790	1430/4314	477/1437	chr3	TogoVar
ABCC5_chr3_183914934_184022884	183987843	A A	T T	missense_variant missense_variant	MODERATE	NA19043.hp2 NA19043.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0018 a0009c0010t0018	a0009c0010t0018g0353 a0009c0010t0018g0353	1	378	0.0027	c.518 others(3): Show c.518T>A	p.Ile others(6): Show p.Ile173Asn	ABCC5	ENSG00000114770.17	transcript	ENST00000334444.11	protein_coding	5/30	628/5790	518/4314	173/1437	chr3	TogoVar
ABCC6_chr16_16144565_16228494	16154767	G G	A A	missense_variant missense_variant	MODERATE	NA19084.hp2 NA19084.hp2	a0034 a0034	a0034c0063 a0034c0063	a0034c0063t0001 a0034c0063t0001	a0034c0063t0001g0170 a0034c0063t0001g0170	1	357	0.0028	c.406 others(4): Show c.4069C>T	p.Arg others(7): Show p.Arg1357Trp	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	29/31	4129/5140	4069/4512	1357/1503	chr16	TogoVar
ABCC6_chr16_16144565_16228494	16154934	C C	T T	missense_variant missense_variant	MODERATE	HG02258.hp2 NA20300.hp1 HG02258.hp2 NA20300.hp1	a0018 a0018	a0018c0035 a0018c0035	a0018c0035t0001 a0018c0035t0001	a0018c0035t0001g0077 a0018c0035t0001g0078 a0018c0035t0001g0077 a0018c0035t0001g0078	2	357	0.0056	c.398 others(4): Show c.3980G>A	p.Gly others(7): Show p.Gly1327Glu	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	28/31	4040/5140	3980/4512	1327/1503	chr16	TogoVar
ABCC6_chr16_16144565_16228494	16155007	C C	T T	missense_variant missense_variant	MODERATE	NA18977.hp1 NA18977.hp1	a0035 a0035	a0035c0062 a0035c0062	a0035c0062t0001 a0035c0062t0001	a0035c0062t0001g0315 a0035c0062t0001g0315	1	357	0.0028	c.390 others(4): Show c.3907G>A	p.Ala others(7): Show p.Ala1303Thr	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	28/31	3967/5140	3907/4512	1303/1503	chr16	TogoVar
ABCC6_chr16_16144565_16228494	16157674	C C	T T	missense_variant missense_variant	MODERATE	HG01496.hp2 HG02145.hp2 HG02280.hp1 others(13): Show HG01496.hp2 HG02145.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02622.hp2 HG02717.hp2 HG02809.hp2 HG02818.hp1 HG02922.hp1 HG02970.hp2 HG03130.hp2 HG03139.hp2 HG03516.hp1 NA18906.hp2 NA19030.hp2	a0008 a0011 a0015 others(3): Show a0008 a0011 a0015 a0027 a0032 a0038	a0008c0011 a0011c0016 a0015c0019 others(3): Show a0008c0011 a0011c0016 a0015c0019 a0027c0073 a0032c0059 a0038c0069	a0008c0011t0003 a0011c0016t0001 a0011c0016t0006 others(5): Show a0008c0011t0003 a0011c0016t0001 a0011c0016t0006 a0011c0016t0011 a0015c0019t0001 a0027c0073t0001 a0032c0059t0001 a0038c0069t0001	a0008c0011t0003g0058 a0008c0011t0003g0059 a0008c0011t0003g0060 others(13): Show a0008c0011t0003g0058 a0008c0011t0003g0059 a0008c0011t0003g0060 a0008c0011t0003g0061 a0008c0011t0003g0062 a0008c0011t0003g0091 a0011c0016t0001g0275 a0011c0016t0006g0271 a0011c0016t0006g0280 a0011c0016t0011g0301 a0015c0019t0001g0122 a0015c0019t0001g0124 a0015c0019t0001g0125 a0027c0073t0001g0016 a0032c0059t0001g0009 a0038c0069t0001g0015	16	357	0.0448	c.387 others(4): Show c.3871G>A	p.Ala others(7): Show p.Ala1291Thr	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	27/31	3931/5140	3871/4512	1291/1503	chr16	TogoVar
ABCC6_chr16_16144565_16228494	16157742	C C	T T	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(46): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00639.hp1 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01081.hp1 HG01175.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01515.hp1 HG01517.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02040.hp2 HG02055.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02615.hp1 HG02698.hp1 HG03239.hp1 HG03688.hp2 HG03704.hp2 HG03927.hp1 NA18939.hp2 NA18943.hp2 NA18949.hp1 NA18953.hp1 NA18964.hp2 NA18968.hp2 NA18971.hp1 NA18986.hp2 NA18993.hp2 NA18995.hp2 NA19011.hp1 NA19060.hp1 NA19066.hp1 NA19070.hp2 NA19084.hp1 NA19087.hp2 NA20129.hp2 NA20752.hp1	a0003 a0005 a0010 others(3): Show a0003 a0005 a0010 a0017 a0023 a0036	a0003c0005 a0003c0007 a0003c0021 others(10): Show a0003c0005 a0003c0007 a0003c0021 a0003c0071 a0005c0012 a0005c0031 a0005c0048 a0010c0029 a0010c0042 a0010c0045 a0017c0034 a0023c0076 a0036c0066	a0003c0005t0001 a0003c0005t0005 a0003c0005t0008 others(12): Show a0003c0005t0001 a0003c0005t0005 a0003c0005t0008 a0003c0007t0001 a0003c0021t0001 a0003c0071t0001 a0005c0012t0001 a0005c0031t0001 a0005c0048t0001 a0010c0029t0001 a0010c0042t0001 a0010c0045t0001 a0017c0034t0001 a0023c0076t0001 a0036c0066t0001	a0003c0005t0001g0028 a0003c0005t0001g0029 a0003c0005t0001g0083 others(45): Show a0003c0005t0001g0028 a0003c0005t0001g0029 a0003c0005t0001g0083 a0003c0005t0001g0134 a0003c0005t0001g0157 a0003c0005t0001g0176 a0003c0005t0001g0177 a0003c0005t0001g0196 a0003c0005t0001g0228 a0003c0005t0001g0260 a0003c0005t0001g0282 a0003c0005t0001g0307 a0003c0005t0001g0309 a0003c0005t0001g0314 a0003c0005t0001g0318 a0003c0005t0001g0319 a0003c0005t0001g0321 a0003c0005t0005g0213 a0003c0005t0008g0317 a0003c0007t0001g0036 a0003c0007t0001g0098 a0003c0007t0001g0102 a0003c0007t0001g0103 a0003c0007t0001g0105 a0003c0007t0001g0110 a0003c0007t0001g0111 a0003c0007t0001g0211 a0003c0007t0001g0221 a0003c0007t0001g0245 a0003c0021t0001g0011 a0003c0021t0001g0012 a0003c0071t0001g0035 a0005c0012t0001g0027 a0005c0012t0001g0121 a0005c0012t0001g0130 a0005c0012t0001g0138 a0005c0012t0001g0139 a0005c0012t0001g0178 a0005c0031t0001g0132 a0005c0031t0001g0349 a0005c0048t0001g0063 a0010c0029t0001g0158 a0010c0029t0001g0230 a0010c0042t0001g0099 a0010c0045t0001g0107 a0017c0034t0001g0001 a0023c0076t0001g0047 a0036c0066t0001g0052	49	357	0.1373	c.380 others(4): Show c.3803G>A	p.Arg others(7): Show p.Arg1268Gln	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	27/31	3863/5140	3803/4512	1268/1503	chr16	TogoVar
ABCC6_chr16_16144565_16228494	16161509	T T	G G	missense_variant missense_variant	MODERATE	HG02886.hp1 HG02886.hp1	a0029 a0029	a0029c0058 a0029c0058	a0029c0058t0001 a0029c0058t0001	a0029c0058t0001g0164 a0029c0058t0001g0164	1	357	0.0028	c.356 others(4): Show c.3562A>C	p.Thr others(7): Show p.Thr1188Pro	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	25/31	3622/5140	3562/4512	1188/1503	chr16	TogoVar
ABCC6_chr16_16144565_16228494	16165640	G G	T T	missense_variant missense_variant	MODERATE	HG00642.hp1 NA19240.hp2 HG00642.hp1 NA19240.hp2	a0022 a0028 a0022 a0028	a0022c0075 a0028c0044 a0022c0075 a0028c0044	a0022c0075t0001 a0028c0044t0001 a0022c0075t0001 a0028c0044t0001	a0022c0075t0001g0049 a0028c0044t0001g0302 a0022c0075t0001g0049 a0028c0044t0001g0302	2	357	0.0056	c.328 others(4): Show c.3289C>A	p.Leu others(7): Show p.Leu1097Ile	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	23/31	3349/5140	3289/4512	1097/1503	chr16	TogoVar
ABCC6_chr16_16144565_16228494	16165739	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp2 HG01433.hp2 HG03239.hp2 HG00099.hp2 HG01433.hp2 HG03239.hp2	a0020 a0036 a0020 a0036	a0020c0032 a0036c0066 a0020c0032 a0036c0066	a0020c0032t0001 a0036c0066t0001 a0020c0032t0001 a0036c0066t0001	a0020c0032t0001g0051 a0020c0032t0001g0149 a0036c0066t0001g0052 a0020c0032t0001g0051 a0020c0032t0001g0149 a0036c0066t0001g0052	3	357	0.0084	c.319 others(4): Show c.3190C>T	p.Arg others(7): Show p.Arg1064Trp	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	23/31	3250/5140	3190/4512	1064/1503	chr16	TogoVar
ABCC6_chr16_16144565_16228494	16165865	G G	C C	missense_variant missense_variant	MODERATE	HG03486.hp1 HG03486.hp1	a0026 a0026	a0026c0056 a0026c0056	a0026c0056t0001 a0026c0056t0001	a0026c0056t0001g0041 a0026c0056t0001g0041	1	357	0.0028	c.306 others(4): Show c.3064C>G	p.Gln others(7): Show p.Gln1022Glu	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	23/31	3124/5140	3064/4512	1022/1503	chr16	TogoVar
ABCC6_chr16_16144565_16228494	16169805	G G	T T	missense_variant missense_variant	MODERATE	HG00280.hp2 HG00323.hp2 HG01069.hp2 others(1): Show HG00280.hp2 HG00323.hp2 HG01069.hp2 HG01175.hp1	a0010 a0010	a0010c0029 a0010c0042 a0010c0045 a0010c0029 a0010c0042 a0010c0045	a0010c0029t0001 a0010c0042t0001 a0010c0045t0001 a0010c0029t0001 a0010c0042t0001 a0010c0045t0001	a0010c0029t0001g0158 a0010c0029t0001g0230 a0010c0042t0001g0099 others(1): Show a0010c0029t0001g0158 a0010c0029t0001g0230 a0010c0042t0001g0099 a0010c0045t0001g0107	4	357	0.0112	c.283 others(4): Show c.2836C>A	p.Leu others(6): Show p.Leu946Ile	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	22/31	2896/5140	2836/4512	946/1503	chr16	TogoVar
ABCC6_chr16_16144565_16228494	16173364	C C	G G	missense_variant missense_variant	MODERATE	HG02109.hp2 HG02723.hp2 HG02895.hp1 others(2): Show HG02109.hp2 HG02723.hp2 HG02895.hp1 HG02897.hp2 NA18906.hp1	a0012 a0030 a0012 a0030	a0012c0025 a0012c0030 a0030c0046 a0012c0025 a0012c0030 a0030c0046	a0012c0025t0001 a0012c0030t0001 a0030c0046t0001 a0012c0025t0001 a0012c0030t0001 a0030c0046t0001	a0012c0025t0001g0007 a0012c0025t0001g0008 a0012c0030t0001g0113 others(2): Show a0012c0025t0001g0007 a0012c0025t0001g0008 a0012c0030t0001g0113 a0012c0030t0001g0274 a0030c0046t0001g0304	5	357	0.0140	c.270 others(4): Show c.2707G>C	p.Glu others(6): Show p.Glu903Gln	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/31	2767/5140	2707/4512	903/1503	chr16	TogoVar
ABCC6_chr16_16144565_16228494	16173375	C C	T T	missense_variant missense_variant	MODERATE	HG02559.hp1 HG02559.hp1	a0033 a0033	a0033c0054 a0033c0054	a0033c0054t0001 a0033c0054t0001	a0033c0054t0001g0072 a0033c0054t0001g0072	1	357	0.0028	c.269 others(4): Show c.2696G>A	p.Arg others(6): Show p.Arg899His	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/31	2756/5140	2696/4512	899/1503	chr16	TogoVar
ABCC6_chr16_16144565_16228494	16173376	G G	A A	missense_variant missense_variant	MODERATE	HG02451.hp1 HG03130.hp2 HG03516.hp1 HG02451.hp1 HG03130.hp2 HG03516.hp1	a0015 a0015	a0015c0019 a0015c0019	a0015c0019t0001 a0015c0019t0001	a0015c0019t0001g0122 a0015c0019t0001g0124 a0015c0019t0001g0125 a0015c0019t0001g0122 a0015c0019t0001g0124 a0015c0019t0001g0125	3	357	0.0084	c.269 others(4): Show c.2695C>T	p.Arg others(6): Show p.Arg899Cys	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/31	2755/5140	2695/4512	899/1503	chr16	TogoVar
ABCC6_chr16_16144565_16228494	16177500	T T	C C	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(338): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.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 HG01358.hp1 HG01358.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 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(38): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0020 a0021 a0022 a0023 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0036 a0037 a0038 a0039 a0040 a0041 a0042 a0043 a0044 a0045	a0001c0001 a0001c0002 a0001c0004 others(73): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0023 a0001c0026 a0001c0028 a0001c0033 a0001c0043 a0001c0047 a0001c0049 a0001c0052 a0001c0055 a0001c0064 a0001c0065 a0001c0067 a0001c0072 a0002c0003 a0002c0013 a0002c0014 a0002c0022 a0002c0024 a0002c0051 a0002c0057 a0002c0068 a0002c0074 a0003c0005 a0003c0007 a0003c0021 a0003c0071 a0004c0010 a0004c0017 a0004c0078 a0005c0012 a0005c0031 a0005c0048 a0006c0009 a0009c0015 a0010c0029 a0010c0042 a0010c0045 a0011c0016 a0012c0025 a0012c0030 a0013c0020 a0013c0050 a0014c0018 a0015c0019 a0016c0036 a0017c0034 a0018c0035 a0020c0032 a0021c0079 a0022c0075 a0023c0076 a0025c0053 a0026c0056 a0027c0073 a0028c0044 a0029c0058 a0030c0046 a0031c0060 a0032c0059 a0033c0054 a0034c0063 a0035c0062 a0036c0066 a0037c0061 a0038c0069 a0039c0070 a0040c0041 a0041c0080 a0042c0039 a0043c0040 a0044c0038 a0045c0037	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(85): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0004t0002 a0001c0006t0001 a0001c0006t0002 a0001c0006t0009 a0001c0023t0001 a0001c0026t0001 a0001c0028t0001 a0001c0033t0001 a0001c0033t0002 a0001c0043t0001 a0001c0047t0002 a0001c0049t0001 a0001c0052t0001 a0001c0055t0012 a0001c0064t0005 a0001c0065t0001 a0001c0067t0001 a0001c0072t0001 a0002c0003t0001 a0002c0013t0001 a0002c0014t0001 a0002c0022t0001 a0002c0024t0001 a0002c0051t0001 a0002c0057t0001 a0002c0068t0001 a0002c0074t0001 a0003c0005t0001 a0003c0005t0005 a0003c0005t0008 a0003c0007t0001 a0003c0021t0001 a0003c0071t0001 a0004c0010t0001 a0004c0017t0001 a0004c0078t0001 a0005c0012t0001 a0005c0031t0001 a0005c0048t0001 a0006c0009t0001 a0009c0015t0001 a0010c0029t0001 a0010c0042t0001 a0010c0045t0001 a0011c0016t0001 a0011c0016t0006 a0011c0016t0011 a0012c0025t0001 a0012c0030t0001 a0013c0020t0001 a0013c0050t0001 a0014c0018t0001 a0015c0019t0001 a0016c0036t0001 a0017c0034t0001 a0018c0035t0001 a0020c0032t0001 a0021c0079t0001 a0022c0075t0001 a0023c0076t0001 a0025c0053t0001 a0026c0056t0001 a0027c0073t0001 a0028c0044t0001 a0029c0058t0001 a0030c0046t0001 a0031c0060t0010 a0032c0059t0001 a0033c0054t0001 a0034c0063t0001 a0035c0062t0001 a0036c0066t0001 a0037c0061t0001 a0038c0069t0001 a0039c0070t0002 a0040c0041t0001 a0041c0080t0001 a0042c0039t0001 a0043c0040t0001 a0044c0038t0001 a0045c0037t0001	a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0020 others(337): Show a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0039 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0108 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0273 a0001c0001t0001g0281 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0308 a0001c0001t0001g0313 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0002g0030 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0161 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0215 a0001c0001t0002g0242 a0001c0001t0002g0311 a0001c0001t0002g0322 a0001c0001t0004g0071 a0001c0001t0004g0155 a0001c0001t0004g0181 a0001c0001t0004g0223 a0001c0001t0005g0206 a0001c0002t0001g0010 a0001c0002t0001g0014 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0054 a0001c0002t0001g0068 a0001c0002t0001g0085 a0001c0002t0001g0093 a0001c0002t0001g0112 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0117 a0001c0002t0001g0131 a0001c0002t0001g0137 a0001c0002t0001g0140 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0156 a0001c0002t0001g0166 a0001c0002t0001g0174 a0001c0002t0001g0197 a0001c0002t0001g0222 a0001c0002t0001g0231 a0001c0002t0001g0287 a0001c0002t0001g0310 a0001c0002t0001g0332 a0001c0002t0001g0354 a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0004t0001g0006 a0001c0004t0001g0034 a0001c0004t0001g0037 a0001c0004t0001g0038 a0001c0004t0001g0065 a0001c0004t0001g0104 a0001c0004t0001g0109 a0001c0004t0001g0162 a0001c0004t0001g0208 a0001c0004t0001g0209 a0001c0004t0001g0210 a0001c0004t0001g0212 a0001c0004t0001g0217 a0001c0004t0001g0220 a0001c0004t0001g0263 a0001c0004t0002g0106 a0001c0004t0002g0133 a0001c0004t0002g0218 a0001c0004t0002g0219 a0001c0006t0001g0189 a0001c0006t0001g0276 a0001c0006t0001g0277 a0001c0006t0001g0278 a0001c0006t0001g0286 a0001c0006t0001g0290 a0001c0006t0001g0291 a0001c0006t0001g0292 a0001c0006t0001g0296 a0001c0006t0001g0297 a0001c0006t0001g0298 a0001c0006t0001g0299 a0001c0006t0001g0300 a0001c0006t0001g0329 a0001c0006t0001g0330 a0001c0006t0002g0246 a0001c0006t0009g0285 a0001c0023t0001g0066 a0001c0023t0001g0100 a0001c0026t0001g0096 a0001c0026t0001g0272 a0001c0028t0001g0279 a0001c0028t0001g0295 a0001c0033t0001g0070 a0001c0033t0002g0195 a0001c0043t0001g0236 a0001c0047t0002g0101 a0001c0049t0001g0352 a0001c0052t0001g0283 a0001c0055t0012g0163 a0001c0064t0005g0324 a0001c0065t0001g0312 a0001c0067t0001g0351 a0001c0072t0001g0356 a0002c0003t0001g0002 a0002c0003t0001g0013 a0002c0003t0001g0074 a0002c0003t0001g0080 a0002c0003t0001g0081 a0002c0003t0001g0084 a0002c0003t0001g0123 a0002c0003t0001g0141 a0002c0003t0001g0145 a0002c0003t0001g0150 a0002c0003t0001g0151 a0002c0003t0001g0167 a0002c0003t0001g0168 a0002c0003t0001g0175 a0002c0003t0001g0186 a0002c0003t0001g0187 a0002c0003t0001g0224 a0002c0003t0001g0225 a0002c0003t0001g0232 a0002c0003t0001g0257 a0002c0003t0001g0261 a0002c0003t0001g0267 a0002c0003t0001g0306 a0002c0003t0001g0316 a0002c0003t0001g0320 a0002c0003t0001g0333 a0002c0003t0001g0350 a0002c0013t0001g0241 a0002c0013t0001g0243 a0002c0013t0001g0244 a0002c0013t0001g0253 a0002c0013t0001g0266 a0002c0014t0001g0284 a0002c0014t0001g0288 a0002c0014t0001g0289 a0002c0014t0001g0328 a0002c0014t0001g0331 a0002c0022t0001g0095 a0002c0022t0001g0345 a0002c0024t0001g0152 a0002c0024t0001g0154 a0002c0051t0001g0353 a0002c0057t0001g0255 a0002c0068t0001g0097 a0002c0074t0001g0185 a0003c0005t0001g0028 a0003c0005t0001g0029 a0003c0005t0001g0083 a0003c0005t0001g0134 a0003c0005t0001g0157 a0003c0005t0001g0176 a0003c0005t0001g0177 a0003c0005t0001g0196 a0003c0005t0001g0228 a0003c0005t0001g0260 a0003c0005t0001g0282 a0003c0005t0001g0307 a0003c0005t0001g0309 a0003c0005t0001g0314 a0003c0005t0001g0318 a0003c0005t0001g0319 a0003c0005t0001g0321 a0003c0005t0005g0213 a0003c0005t0008g0317 a0003c0007t0001g0036 a0003c0007t0001g0098 a0003c0007t0001g0102 a0003c0007t0001g0103 a0003c0007t0001g0105 a0003c0007t0001g0110 a0003c0007t0001g0111 a0003c0007t0001g0211 a0003c0007t0001g0221 a0003c0007t0001g0245 a0003c0021t0001g0011 a0003c0021t0001g0012 a0003c0071t0001g0035 a0004c0010t0001g0042 a0004c0010t0001g0043 a0004c0010t0001g0045 a0004c0010t0001g0046 a0004c0010t0001g0073 a0004c0010t0001g0075 a0004c0010t0001g0342 a0004c0017t0001g0076 a0004c0017t0001g0192 a0004c0017t0001g0214 a0004c0017t0001g0254 a0004c0078t0001g0199 a0005c0012t0001g0027 a0005c0012t0001g0121 a0005c0012t0001g0130 a0005c0012t0001g0138 a0005c0012t0001g0139 a0005c0012t0001g0178 a0005c0031t0001g0132 a0005c0031t0001g0349 a0005c0048t0001g0063 a0006c0009t0001g0044 a0006c0009t0001g0048 a0006c0009t0001g0050 a0006c0009t0001g0116 a0006c0009t0001g0118 a0006c0009t0001g0119 a0006c0009t0001g0120 a0009c0015t0001g0018 a0009c0015t0001g0019 a0009c0015t0001g0022 a0009c0015t0001g0327 a0010c0029t0001g0158 a0010c0029t0001g0230 a0010c0042t0001g0099 a0010c0045t0001g0107 a0011c0016t0001g0275 a0011c0016t0006g0271 a0011c0016t0006g0280 a0011c0016t0011g0301 a0012c0025t0001g0007 a0012c0025t0001g0008 a0012c0030t0001g0113 a0012c0030t0001g0274 a0013c0020t0001g0055 a0013c0020t0001g0056 a0013c0020t0001g0057 a0013c0050t0001g0040 a0014c0018t0001g0249 a0014c0018t0001g0250 a0014c0018t0001g0251 a0014c0018t0001g0252 a0015c0019t0001g0122 a0015c0019t0001g0124 a0015c0019t0001g0125 a0016c0036t0001g0343 a0016c0036t0001g0344 a0017c0034t0001g0001 a0018c0035t0001g0077 a0018c0035t0001g0078 a0020c0032t0001g0051 a0020c0032t0001g0149 a0021c0079t0001g0238 a0022c0075t0001g0049 a0023c0076t0001g0047 a0025c0053t0001g0153 a0026c0056t0001g0041 a0027c0073t0001g0016 a0028c0044t0001g0302 a0029c0058t0001g0164 a0030c0046t0001g0304 a0031c0060t0010g0240 a0032c0059t0001g0009 a0033c0054t0001g0072 a0034c0063t0001g0170 a0035c0062t0001g0315 a0036c0066t0001g0052 a0037c0061t0001g0129 a0038c0069t0001g0015 a0039c0070t0002g0067 a0040c0041t0001g0216 a0041c0080t0001g0090 a0042c0039t0001g0032 a0043c0040t0001g0031 a0044c0038t0001g0033 a0045c0037t0001g0355	341	357	0.9552	c.254 others(4): Show c.2542A>G	p.Met others(6): Show p.Met848Val	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	19/31	2602/5140	2542/4512	848/1503	chr16	TogoVar

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