Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	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
ABCB1_chr7_87498017_87605884	87600136	A A	G G	missense_variant missense_variant	MODERATE	NA18949.hp1 NA18949.hp1	a0016 a0016	a0016c0015 a0016c0015	a0016c0015t0001 a0016c0015t0001	a0016c0015t0001g0080 a0016c0015t0001g0080	1	350	0.0029	c.49T others(2): Show c.49T>C	p.Phe others(5): Show p.Phe17Leu	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding	2/28	185/5205	49/3843	17/1280	chr7	TogoVar
ABCB4_chr7_87396696_87480680	87409304	C C	T T	missense_variant missense_variant	MODERATE	HG02896.hp2 HG02896.hp2	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0001 a0008c0016t0001	a0008c0016t0001g0234 a0008c0016t0001g0234	1	288	0.0035	c.301 others(4): Show c.3013G>A	p.Ala others(7): Show p.Ala1005Thr	ABCB4	ENSG00000005471.19	transcript	ENST00000649586.2	protein_coding	24/28	3066/4293	3013/3840	1005/1279	chr7	TogoVar
ABCB4_chr7_87396696_87480680	87412017	C C	T T	missense_variant missense_variant	MODERATE	HG02109.hp1 HG02886.hp1 HG02109.hp1 HG02886.hp1	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0001 a0004c0013t0001	a0004c0013t0001g0099 a0004c0013t0001g0100 a0004c0013t0001g0099 a0004c0013t0001g0100	2	288	0.0069	c.280 others(4): Show c.2800G>A	p.Ala others(6): Show p.Ala934Thr	ABCB4	ENSG00000005471.19	transcript	ENST00000649586.2	protein_coding	23/28	2853/4293	2800/3840	934/1279	chr7	TogoVar
ABCB4_chr7_87396696_87480680	87420029	C C	T T	missense_variant missense_variant	MODERATE	HG02109.hp2 HG02145.hp1 HG02615.hp1 others(7): Show HG02109.hp2 HG02145.hp1 HG02615.hp1 HG02630.hp1 HG02965.hp1 HG03195.hp2 HG03516.hp1 NA18906.hp2 NA20300.hp2 NA21309.hp2	a0003 a0003	a0003c0008 a0003c0011 a0003c0022 a0003c0008 a0003c0011 a0003c0022	a0003c0008t0001 a0003c0011t0001 a0003c0022t0001 a0003c0008t0001 a0003c0011t0001 a0003c0022t0001	a0003c0008t0001g0026 a0003c0008t0001g0027 a0003c0008t0001g0168 others(7): Show a0003c0008t0001g0026 a0003c0008t0001g0027 a0003c0008t0001g0168 a0003c0008t0001g0169 a0003c0008t0001g0220 a0003c0011t0001g0110 a0003c0011t0001g0111 a0003c0011t0001g0112 a0003c0011t0001g0113 a0003c0022t0001g0245	10	288	0.0347	c.236 others(4): Show c.2363G>A	p.Arg others(6): Show p.Arg788Gln	ABCB4	ENSG00000005471.19	transcript	ENST00000649586.2	protein_coding	19/28	2416/4293	2363/3840	788/1279	chr7	TogoVar
ABCB4_chr7_87396696_87480680	87426860	T T	C C	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00323.hp1 HG00735.hp2 others(45): Show HG00140.hp1 HG00323.hp1 HG00735.hp2 HG01192.hp1 HG01243.hp1 HG01884.hp2 HG01934.hp2 HG01943.hp1 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03453.hp1 HG03516.hp2 HG03540.hp2 HG03942.hp2 HG06807.hp2 NA18906.hp1 NA19043.hp1 NA19058.hp1 NA19086.hp1 NA20129.hp1	a0002 a0004 a0002 a0004	a0002c0004 a0002c0005 a0002c0009 others(8): Show a0002c0004 a0002c0005 a0002c0009 a0002c0010 a0002c0012 a0002c0017 a0002c0021 a0002c0023 a0002c0024 a0002c0027 a0004c0013	a0002c0004t0001 a0002c0005t0001 a0002c0009t0001 others(8): Show a0002c0004t0001 a0002c0005t0001 a0002c0009t0001 a0002c0010t0001 a0002c0012t0001 a0002c0017t0001 a0002c0021t0001 a0002c0023t0001 a0002c0024t0001 a0002c0027t0001 a0004c0013t0001	a0002c0004t0001g0003 a0002c0004t0001g0008 a0002c0004t0001g0009 others(40): Show a0002c0004t0001g0003 a0002c0004t0001g0008 a0002c0004t0001g0009 a0002c0004t0001g0010 a0002c0004t0001g0040 a0002c0004t0001g0042 a0002c0004t0001g0043 a0002c0004t0001g0045 a0002c0004t0001g0057 a0002c0004t0001g0058 a0002c0004t0001g0094 a0002c0004t0001g0104 a0002c0004t0001g0250 a0002c0005t0001g0037 a0002c0005t0001g0038 a0002c0005t0001g0044 a0002c0005t0001g0046 a0002c0005t0001g0051 a0002c0005t0001g0052 a0002c0005t0001g0053 a0002c0005t0001g0054 a0002c0005t0001g0055 a0002c0005t0001g0056 a0002c0005t0001g0167 a0002c0005t0001g0174 a0002c0009t0001g0190 a0002c0009t0001g0211 a0002c0009t0001g0219 a0002c0009t0001g0232 a0002c0009t0001g0238 a0002c0010t0001g0170 a0002c0010t0001g0171 a0002c0010t0001g0172 a0002c0010t0001g0173 a0002c0012t0001g0134 a0002c0012t0001g0150 a0002c0017t0001g0193 a0002c0021t0001g0106 a0002c0023t0001g0247 a0002c0024t0001g0041 a0002c0027t0001g0253 a0004c0013t0001g0099 a0004c0013t0001g0100	48	288	0.1667	c.195 others(4): Show c.1954A>G	p.Arg others(6): Show p.Arg652Gly	ABCB4	ENSG00000005471.19	transcript	ENST00000649586.2	protein_coding	16/28	2007/4293	1954/3840	652/1279	chr7	TogoVar
ABCB4_chr7_87396696_87480680	87431528	C C	T T	missense_variant missense_variant	MODERATE	HG01109.hp1 HG01109.hp1	a0005 a0005	a0005c0025 a0005c0025	a0005c0025t0001 a0005c0025t0001	a0005c0025t0001g0090 a0005c0025t0001g0090	1	288	0.0035	c.176 others(4): Show c.1769G>A	p.Arg others(6): Show p.Arg590Gln	ABCB4	ENSG00000005471.19	transcript	ENST00000649586.2	protein_coding	15/28	1822/4293	1769/3840	590/1279	chr7	TogoVar
ABCB4_chr7_87396696_87480680	87452957	T T	C C	missense_variant missense_variant	MODERATE	HG03492.hp1 HG03492.hp1	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0001 a0009c0018t0001	a0009c0018t0001g0121 a0009c0018t0001g0121	1	288	0.0035	c.523 others(3): Show c.523A>G	p.Thr others(6): Show p.Thr175Ala	ABCB4	ENSG00000005471.19	transcript	ENST00000649586.2	protein_coding	6/28	576/4293	523/3840	175/1279	chr7	TogoVar
ABCB4_chr7_87396696_87480680	87453082	A A	G G	missense_variant missense_variant	MODERATE	HG01256.hp1 HG01256.hp1	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0001 a0006c0014t0001	a0006c0014t0001g0161 a0006c0014t0001g0161	1	288	0.0035	c.398 others(3): Show c.398T>C	p.Ile others(6): Show p.Ile133Thr	ABCB4	ENSG00000005471.19	transcript	ENST00000649586.2	protein_coding	6/28	451/4293	398/3840	133/1279	chr7	TogoVar
ABCB4_chr7_87396696_87480680	87454577	G G	A A	missense_variant missense_variant	MODERATE	NA19065.hp2 NA19065.hp2	a0011 a0011	a0011c0028 a0011c0028	a0011c0028t0001 a0011c0028t0001	a0011c0028t0001g0068 a0011c0028t0001g0068	1	288	0.0035	c.302 others(3): Show c.302C>T	p.Ser others(6): Show p.Ser101Leu	ABCB4	ENSG00000005471.19	transcript	ENST00000649586.2	protein_coding	5/28	355/4293	302/3840	101/1279	chr7	TogoVar
ABCB4_chr7_87396696_87480680	87462818	T T	C C	missense_variant missense_variant	MODERATE	NA18999.hp2 NA18999.hp2	a0010 a0010	a0010c0020 a0010c0020	a0010c0020t0001 a0010c0020t0001	a0010c0020t0001g0187 a0010c0020t0001g0187	1	288	0.0035	c.226 others(3): Show c.226A>G	p.Ile others(5): Show p.Ile76Val	ABCB4	ENSG00000005471.19	transcript	ENST00000649586.2	protein_coding	4/28	279/4293	226/3840	76/1279	chr7	TogoVar
ABCB4_chr7_87396696_87480680	87472655	G G	A A	missense_variant missense_variant	MODERATE	HG02615.hp2 HG02615.hp2	a0007 a0007	a0007c0030 a0007c0030	a0007c0030t0001 a0007c0030t0001	a0007c0030t0001g0236 a0007c0030t0001g0236	1	288	0.0035	c.101 others(3): Show c.101C>T	p.Thr others(5): Show p.Thr34Met	ABCB4	ENSG00000005471.19	transcript	ENST00000649586.2	protein_coding	3/28	154/4293	101/3840	34/1279	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20623334	A A	G G	missense_variant missense_variant	MODERATE	HG02280.hp1 HG02280.hp1	a0040 a0040	a0040c0109 a0040c0109	a0040c0109t0022 a0040c0109t0022	a0040c0109t0022g0354 a0040c0109t0022g0354	1	358	0.0028	c.49A others(2): Show c.49A>G	p.Asn others(5): Show p.Asn17Asp	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	2/28	241/5350	49/3774	17/1257	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20626568	A A	C C	missense_variant missense_variant	MODERATE	HG02976.hp1 HG02976.hp1	a0049 a0049	a0049c0108 a0049c0108	a0049c0108t0004 a0049c0108t0004	a0049c0108t0004g0063 a0049c0108t0004g0063	1	358	0.0028	c.65A others(2): Show c.65A>C	p.Glu others(5): Show p.Glu22Ala	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	3/28	257/5350	65/3774	22/1257	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20643261	C C	T T	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00408.hp1 HG00558.hp2 others(27): Show HG00140.hp2 HG00408.hp1 HG00558.hp2 HG00673.hp2 HG01106.hp1 HG02027.hp2 HG02056.hp1 HG02074.hp2 HG02135.hp2 HG02258.hp2 HG02523.hp2 HG02683.hp2 HG03098.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03669.hp1 HG04199.hp1 NA18944.hp1 NA18950.hp1 NA18973.hp2 NA18977.hp2 NA18989.hp1 NA18994.hp1 NA19000.hp1 NA19002.hp2 NA19062.hp1 NA19070.hp2 NA19088.hp2 NA19240.hp1	a0006 a0009 a0017 others(3): Show a0006 a0009 a0017 a0039 a0059 a0063	a0006c0007 a0006c0019 a0009c0018 others(6): Show a0006c0007 a0006c0019 a0009c0018 a0009c0020 a0017c0040 a0017c0106 a0039c0104 a0059c0105 a0063c0103	a0006c0007t0001 a0006c0019t0001 a0006c0019t0002 others(10): Show a0006c0007t0001 a0006c0019t0001 a0006c0019t0002 a0009c0018t0001 a0009c0018t0004 a0009c0018t0008 a0009c0020t0001 a0017c0040t0001 a0017c0040t0002 a0017c0106t0002 a0039c0104t0001 a0059c0105t0001 a0063c0103t0019	a0006c0007t0001g0300 a0006c0007t0001g0302 a0006c0007t0001g0303 others(27): Show a0006c0007t0001g0300 a0006c0007t0001g0302 a0006c0007t0001g0303 a0006c0007t0001g0306 a0006c0007t0001g0307 a0006c0007t0001g0310 a0006c0007t0001g0311 a0006c0007t0001g0313 a0006c0007t0001g0320 a0006c0007t0001g0322 a0006c0007t0001g0323 a0006c0007t0001g0338 a0006c0019t0001g0301 a0006c0019t0001g0316 a0006c0019t0001g0321 a0006c0019t0002g0337 a0009c0018t0001g0309 a0009c0018t0001g0317 a0009c0018t0004g0297 a0009c0018t0008g0312 a0009c0020t0001g0298 a0009c0020t0001g0299 a0009c0020t0001g0308 a0009c0020t0001g0324 a0017c0040t0001g0304 a0017c0040t0002g0305 a0017c0106t0002g0314 a0039c0104t0001g0318 a0059c0105t0001g0319 a0063c0103t0019g0315	30	358	0.0838	c.392 others(3): Show c.392C>T	p.Thr others(6): Show p.Thr131Ile	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	6/28	584/5350	392/3774	131/1257	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20643270	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00099.hp2	a0031 a0031	a0031c0043 a0031c0043	a0031c0043t0001 a0031c0043t0001	a0031c0043t0001g0261 a0031c0043t0001g0261	1	358	0.0028	c.401 others(3): Show c.401G>A	p.Arg others(6): Show p.Arg134Gln	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	6/28	593/5350	401/3774	134/1257	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20643326	G G	A A	missense_variant missense_variant	MODERATE	NA19030.hp2 NA19030.hp2	a0068 a0068	a0068c0044 a0068c0044	a0068c0044t0001 a0068c0044t0001	a0068c0044t0001g0131 a0068c0044t0001g0131	1	358	0.0028	c.457 others(3): Show c.457G>A	p.Gly others(6): Show p.Gly153Ser	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	6/28	649/5350	457/3774	153/1257	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20643366	G G	A A	missense_variant missense_variant	MODERATE	HG00423.hp1 HG00609.hp1 HG02040.hp2 HG00423.hp1 HG00609.hp1 HG02040.hp2	a0015 a0015	a0015c0021 a0015c0021	a0015c0021t0001 a0015c0021t0014 a0015c0021t0001 a0015c0021t0014	a0015c0021t0001g0103 a0015c0021t0001g0110 a0015c0021t0014g0109 a0015c0021t0001g0103 a0015c0021t0001g0110 a0015c0021t0014g0109	3	358	0.0084	c.497 others(3): Show c.497G>A	p.Arg others(6): Show p.Arg166His	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	6/28	689/5350	497/3774	166/1257	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20645774	A A	C C	missense_variant missense_variant	MODERATE	HG02155.hp2 HG02155.hp2	a0038 a0038	a0038c0102 a0038c0102	a0038c0102t0023 a0038c0102t0023	a0038c0102t0023g0052 a0038c0102t0023g0052	1	358	0.0028	c.697 others(3): Show c.697A>C	p.Ser others(6): Show p.Ser233Arg	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	8/28	889/5350	697/3774	233/1257	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20645856	G G	A A	missense_variant missense_variant	MODERATE	HG02896.hp2 HG02896.hp2	a0047 a0047	a0047c0049 a0047c0049	a0047c0049t0004 a0047c0049t0004	a0047c0049t0004g0346 a0047c0049t0004g0346	1	358	0.0028	c.779 others(3): Show c.779G>A	p.Arg others(6): Show p.Arg260Lys	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	8/28	971/5350	779/3774	260/1257	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20645861	C C	A A	missense_variant missense_variant	MODERATE	HG00438.hp1 HG00438.hp2 HG00558.hp1 others(66): Show HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00642.hp2 HG01070.hp1 HG01099.hp1 HG01106.hp2 HG01361.hp2 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02083.hp2 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG02523.hp1 HG02735.hp2 HG03491.hp2 HG03669.hp2 HG03704.hp1 HG04115.hp1 HG04184.hp2 NA18612.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18949.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18959.hp2 NA18961.hp2 NA18964.hp2 NA18965.hp2 NA18970.hp1 NA18974.hp2 NA18979.hp2 NA18980.hp2 NA18986.hp1 NA18988.hp1 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA19006.hp2 NA19007.hp2 NA19012.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19077.hp1 NA19078.hp1 NA19082.hp1 NA19086.hp1 NA19088.hp1	a0003 a0008 a0013 others(7): Show a0003 a0008 a0013 a0034 a0037 a0060 a0061 a0064 a0065 a0066	a0003c0002 a0003c0010 a0003c0053 others(11): Show a0003c0002 a0003c0010 a0003c0053 a0008c0009 a0008c0027 a0013c0022 a0013c0023 a0034c0052 a0037c0055 a0060c0051 a0061c0058 a0064c0054 a0065c0050 a0066c0057	a0003c0002t0001 a0003c0002t0002 a0003c0002t0015 others(17): Show a0003c0002t0001 a0003c0002t0002 a0003c0002t0015 a0003c0010t0001 a0003c0010t0002 a0003c0053t0001 a0008c0009t0001 a0008c0009t0002 a0008c0027t0001 a0008c0027t0002 a0013c0022t0001 a0013c0022t0021 a0013c0023t0001 a0034c0052t0002 a0037c0055t0001 a0060c0051t0001 a0061c0058t0001 a0064c0054t0001 a0065c0050t0001 a0066c0057t0008	a0003c0002t0001g0119 a0003c0002t0001g0148 a0003c0002t0001g0150 others(66): Show a0003c0002t0001g0119 a0003c0002t0001g0148 a0003c0002t0001g0150 a0003c0002t0001g0151 a0003c0002t0001g0152 a0003c0002t0001g0153 a0003c0002t0001g0154 a0003c0002t0001g0155 a0003c0002t0001g0156 a0003c0002t0001g0158 a0003c0002t0001g0160 a0003c0002t0001g0164 a0003c0002t0001g0166 a0003c0002t0001g0169 a0003c0002t0001g0170 a0003c0002t0001g0172 a0003c0002t0001g0178 a0003c0002t0001g0181 a0003c0002t0001g0185 a0003c0002t0001g0186 a0003c0002t0001g0189 a0003c0002t0001g0191 a0003c0002t0001g0192 a0003c0002t0001g0193 a0003c0002t0001g0194 a0003c0002t0001g0198 a0003c0002t0001g0200 a0003c0002t0001g0328 a0003c0002t0001g0331 a0003c0002t0002g0147 a0003c0002t0002g0159 a0003c0002t0002g0171 a0003c0002t0002g0187 a0003c0002t0015g0334 a0003c0010t0001g0133 a0003c0010t0001g0163 a0003c0010t0001g0199 a0003c0010t0001g0205 a0003c0010t0001g0333 a0003c0010t0002g0149 a0003c0010t0002g0188 a0003c0010t0002g0201 a0003c0010t0002g0332 a0003c0053t0001g0237 a0008c0009t0001g0157 a0008c0009t0001g0168 a0008c0009t0001g0179 a0008c0009t0001g0183 a0008c0009t0001g0190 a0008c0009t0001g0195 a0008c0009t0001g0348 a0008c0009t0002g0173 a0008c0009t0002g0177 a0008c0009t0002g0184 a0008c0027t0001g0162 a0008c0027t0002g0330 a0013c0022t0001g0180 a0013c0022t0001g0234 a0013c0022t0021g0161 a0013c0023t0001g0174 a0013c0023t0001g0175 a0013c0023t0001g0182 a0034c0052t0002g0204 a0037c0055t0001g0203 a0060c0051t0001g0176 a0061c0058t0001g0165 a0064c0054t0001g0167 a0065c0050t0001g0329 a0066c0057t0008g0202	69	358	0.1927	c.784 others(3): Show c.784C>A	p.Gln others(6): Show p.Gln262Lys	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	8/28	976/5350	784/3774	262/1257	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20646079	T T	A A	missense_variant missense_variant	MODERATE	HG02976.hp2 HG02976.hp2	a0050 a0050	a0050c0059 a0050c0059	a0050c0059t0003 a0050c0059t0003	a0050c0059t0003g0013 a0050c0059t0003g0013	1	358	0.0028	c.922 others(3): Show c.922T>A	p.Tyr others(6): Show p.Tyr308Asn	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	9/28	1114/5350	922/3774	308/1257	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20647977	A A	G G	missense_variant missense_variant	MODERATE	HG00738.hp1 HG02055.hp2 HG02809.hp1 others(3): Show HG00738.hp1 HG02055.hp2 HG02809.hp1 HG02965.hp1 HG03209.hp2 NA19240.hp2	a0033 a0036 a0046 others(3): Show a0033 a0036 a0046 a0048 a0052 a0070	a0033c0096 a0036c0100 a0046c0098 others(3): Show a0033c0096 a0036c0100 a0046c0098 a0048c0101 a0052c0097 a0070c0099	a0033c0096t0001 a0036c0100t0005 a0046c0098t0006 others(3): Show a0033c0096t0001 a0036c0100t0005 a0046c0098t0006 a0048c0101t0004 a0052c0097t0004 a0070c0099t0004	a0033c0096t0001g0100 a0036c0100t0005g0097 a0046c0098t0006g0098 others(3): Show a0033c0096t0001g0100 a0036c0100t0005g0097 a0046c0098t0006g0098 a0048c0101t0004g0094 a0052c0097t0004g0099 a0070c0099t0004g0095	6	358	0.0168	c.110 others(4): Show c.1105A>G	p.Ile others(6): Show p.Ile369Val	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	11/28	1297/5350	1105/3774	369/1257	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20647981	A A	G G	missense_variant missense_variant	MODERATE	HG00280.hp1 HG01069.hp2 HG01257.hp2 others(1): Show HG00280.hp1 HG01069.hp2 HG01257.hp2 HG01515.hp1	a0020 a0021 a0020 a0021	a0020c0038 a0021c0039 a0020c0038 a0021c0039	a0020c0038t0016 a0020c0038t0020 a0021c0039t0001 a0020c0038t0016 a0020c0038t0020 a0021c0039t0001	a0020c0038t0016g0350 a0020c0038t0020g0352 a0021c0039t0001g0349 others(1): Show a0020c0038t0016g0350 a0020c0038t0020g0352 a0021c0039t0001g0349 a0021c0039t0001g0351	4	358	0.0112	c.110 others(4): Show c.1109A>G	p.Asp others(6): Show p.Asp370Gly	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	11/28	1301/5350	1109/3774	370/1257	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20650101	C C	T T	missense_variant missense_variant	MODERATE	HG03098.hp2 NA19030.hp2 HG03098.hp2 NA19030.hp2	a0051 a0068 a0051 a0068	a0051c0095 a0068c0044 a0051c0095 a0068c0044	a0051c0095t0006 a0068c0044t0001 a0051c0095t0006 a0068c0044t0001	a0051c0095t0006g0127 a0068c0044t0001g0131 a0051c0095t0006g0127 a0068c0044t0001g0131	2	358	0.0056	c.128 others(4): Show c.1286C>T	p.Thr others(6): Show p.Thr429Met	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	12/28	1478/5350	1286/3774	429/1257	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20650126	A A	T T	missense_variant missense_variant	MODERATE	NA18940.hp1 NA18989.hp2 NA18940.hp1 NA18989.hp2	a0029 a0029	a0029c0075 a0029c0076 a0029c0075 a0029c0076	a0029c0075t0001 a0029c0076t0001 a0029c0075t0001 a0029c0076t0001	a0029c0075t0001g0355 a0029c0076t0001g0245 a0029c0075t0001g0355 a0029c0076t0001g0245	2	358	0.0056	c.131 others(4): Show c.1311A>T	p.Leu others(6): Show p.Leu437Phe	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	12/28	1503/5350	1311/3774	437/1257	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20651424	T T	C C	missense_variant missense_variant	MODERATE	HG00280.hp1 HG00423.hp1 HG00609.hp1 others(18): Show HG00280.hp1 HG00423.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG01069.hp2 HG01257.hp2 HG01515.hp1 HG01516.hp2 HG02040.hp2 HG02602.hp2 HG02896.hp2 HG03490.hp1 HG03688.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp2 NA18949.hp2 NA18988.hp2 NA18998.hp1 NA19091.hp2	a0011 a0015 a0020 others(7): Show a0011 a0015 a0020 a0021 a0028 a0032 a0047 a0057 a0062 a0067	a0011c0013 a0011c0080 a0015c0021 others(8): Show a0011c0013 a0011c0080 a0015c0021 a0020c0038 a0021c0039 a0028c0034 a0032c0082 a0047c0049 a0057c0079 a0062c0081 a0067c0083	a0011c0013t0001 a0011c0013t0002 a0011c0080t0001 others(12): Show a0011c0013t0001 a0011c0013t0002 a0011c0080t0001 a0015c0021t0001 a0015c0021t0014 a0020c0038t0016 a0020c0038t0020 a0021c0039t0001 a0028c0034t0001 a0028c0034t0018 a0032c0082t0001 a0047c0049t0004 a0057c0079t0001 a0062c0081t0008 a0067c0083t0002	a0011c0013t0001g0102 a0011c0013t0001g0104 a0011c0013t0001g0112 others(18): Show a0011c0013t0001g0102 a0011c0013t0001g0104 a0011c0013t0001g0112 a0011c0013t0001g0218 a0011c0013t0002g0113 a0011c0013t0002g0115 a0011c0080t0001g0105 a0015c0021t0001g0103 a0015c0021t0001g0110 a0015c0021t0014g0109 a0020c0038t0016g0350 a0020c0038t0020g0352 a0021c0039t0001g0349 a0021c0039t0001g0351 a0028c0034t0001g0114 a0028c0034t0018g0101 a0032c0082t0001g0108 a0047c0049t0004g0346 a0057c0079t0001g0111 a0062c0081t0008g0106 a0067c0083t0002g0107	21	358	0.0587	c.133 others(4): Show c.1337T>C	p.Met others(6): Show p.Met446Thr	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	13/28	1529/5350	1337/3774	446/1257	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20658522	T T	C C	missense_variant missense_variant	MODERATE	NA18950.hp1 NA18950.hp1	a0063 a0063	a0063c0103 a0063c0103	a0063c0103t0019 a0063c0103t0019	a0063c0103t0019g0315 a0063c0103t0019g0315	1	358	0.0028	c.155 others(4): Show c.1553T>C	p.Val others(6): Show p.Val518Ala	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/28	1745/5350	1553/3774	518/1257	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20658647	A A	G G	missense_variant missense_variant	MODERATE	HG00280.hp1 HG00323.hp2 HG00423.hp1 others(131): Show HG00280.hp1 HG00323.hp2 HG00423.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01109.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01515.hp1 HG01516.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02040.hp2 HG02055.hp2 HG02074.hp1 HG02109.hp1 HG02155.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18955.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18980.hp1 NA18983.hp2 NA18986.hp2 NA18988.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19006.hp1 NA19007.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19060.hp2 NA19067.hp2 NA19079.hp1 NA19082.hp2 NA19085.hp2 NA19086.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA21309.hp2	a0002 a0007 a0010 others(36): Show a0002 a0007 a0010 a0011 a0012 a0015 a0016 a0018 a0019 a0020 a0021 a0023 a0024 a0026 a0028 a0030 a0032 a0033 a0036 a0038 a0040 a0041 a0042 a0045 a0046 a0047 a0048 a0049 a0050 a0051 a0052 a0054 a0055 a0056 a0061 a0062 a0067 a0068 a0070	a0002c0003 a0002c0012 a0002c0014 others(57): Show a0002c0003 a0002c0012 a0002c0014 a0002c0035 a0002c0041 a0002c0048 a0007c0011 a0007c0016 a0007c0032 a0007c0047 a0007c0070 a0010c0017 a0010c0025 a0011c0013 a0011c0080 a0012c0026 a0012c0031 a0012c0042 a0012c0094 a0015c0021 a0016c0036 a0016c0071 a0018c0084 a0018c0085 a0018c0086 a0019c0037 a0019c0072 a0020c0038 a0021c0039 a0023c0073 a0023c0093 a0024c0046 a0024c0087 a0026c0069 a0026c0089 a0028c0034 a0030c0033 a0032c0082 a0033c0096 a0036c0100 a0038c0102 a0040c0109 a0041c0092 a0042c0090 a0045c0091 a0046c0098 a0047c0049 a0048c0101 a0049c0108 a0050c0059 a0051c0095 a0052c0097 a0054c0045 a0055c0088 a0056c0074 a0061c0058 a0062c0081 a0067c0083 a0068c0044 a0070c0099	a0002c0003t0001 a0002c0003t0003 a0002c0003t0007 others(77): Show a0002c0003t0001 a0002c0003t0003 a0002c0003t0007 a0002c0003t0009 a0002c0003t0011 a0002c0012t0001 a0002c0012t0003 a0002c0014t0001 a0002c0014t0003 a0002c0014t0011 a0002c0035t0001 a0002c0035t0005 a0002c0041t0001 a0002c0048t0012 a0007c0011t0001 a0007c0011t0004 a0007c0016t0001 a0007c0016t0003 a0007c0016t0006 a0007c0032t0003 a0007c0047t0004 a0007c0070t0009 a0010c0017t0003 a0010c0017t0007 a0010c0025t0001 a0010c0025t0003 a0010c0025t0007 a0011c0013t0001 a0011c0013t0002 a0011c0080t0001 a0012c0026t0004 a0012c0026t0006 a0012c0031t0004 a0012c0031t0009 a0012c0042t0004 a0012c0094t0004 a0015c0021t0001 a0015c0021t0014 a0016c0036t0001 a0016c0071t0001 a0018c0084t0004 a0018c0085t0004 a0018c0086t0004 a0019c0037t0001 a0019c0072t0013 a0020c0038t0016 a0020c0038t0020 a0021c0039t0001 a0023c0073t0017 a0023c0093t0001 a0024c0046t0001 a0024c0087t0001 a0026c0069t0004 a0026c0089t0004 a0028c0034t0001 a0028c0034t0018 a0030c0033t0003 a0032c0082t0001 a0033c0096t0001 a0036c0100t0005 a0038c0102t0023 a0040c0109t0022 a0041c0092t0005 a0042c0090t0004 a0045c0091t0004 a0046c0098t0006 a0047c0049t0004 a0048c0101t0004 a0049c0108t0004 a0050c0059t0003 a0051c0095t0006 a0052c0097t0004 a0054c0045t0004 a0055c0088t0004 a0056c0074t0005 a0061c0058t0001 a0062c0081t0008 a0067c0083t0002 a0068c0044t0001 a0070c0099t0004	a0002c0003t0001g0347 a0002c0003t0003g0004 a0002c0003t0003g0006 others(131): Show a0002c0003t0001g0347 a0002c0003t0003g0004 a0002c0003t0003g0006 a0002c0003t0003g0016 a0002c0003t0003g0018 a0002c0003t0003g0019 a0002c0003t0003g0020 a0002c0003t0003g0021 a0002c0003t0003g0024 a0002c0003t0003g0025 a0002c0003t0003g0026 a0002c0003t0003g0027 a0002c0003t0003g0028 a0002c0003t0003g0029 a0002c0003t0003g0030 a0002c0003t0003g0031 a0002c0003t0003g0032 a0002c0003t0003g0033 a0002c0003t0003g0034 a0002c0003t0003g0035 a0002c0003t0003g0036 a0002c0003t0003g0038 a0002c0003t0003g0039 a0002c0003t0003g0040 a0002c0003t0003g0042 a0002c0003t0003g0043 a0002c0003t0003g0046 a0002c0003t0003g0049 a0002c0003t0003g0050 a0002c0003t0007g0037 a0002c0003t0009g0014 a0002c0003t0011g0015 a0002c0012t0001g0082 a0002c0012t0001g0090 a0002c0012t0001g0092 a0002c0012t0001g0123 a0002c0012t0001g0357 a0002c0012t0001g0358 a0002c0012t0003g0010 a0002c0014t0001g0196 a0002c0014t0001g0197 a0002c0014t0003g0003 a0002c0014t0003g0048 a0002c0014t0011g0012 a0002c0035t0001g0076 a0002c0035t0005g0093 a0002c0041t0001g0122 a0002c0048t0012g0062 a0007c0011t0001g0086 a0007c0011t0001g0087 a0007c0011t0001g0088 a0007c0011t0001g0089 a0007c0011t0004g0060 a0007c0011t0004g0061 a0007c0011t0004g0073 a0007c0011t0004g0128 a0007c0016t0001g0117 a0007c0016t0003g0008 a0007c0016t0003g0053 a0007c0016t0006g0059 a0007c0032t0003g0017 a0007c0032t0003g0045 a0007c0047t0004g0065 a0007c0070t0009g0007 a0010c0017t0003g0009 a0010c0017t0003g0023 a0010c0017t0007g0051 a0010c0017t0007g0054 a0010c0025t0001g0096 a0010c0025t0003g0041 a0010c0025t0007g0022 a0011c0013t0001g0102 a0011c0013t0001g0104 a0011c0013t0001g0112 a0011c0013t0001g0218 a0011c0013t0002g0113 a0011c0013t0002g0115 a0011c0080t0001g0105 a0012c0026t0004g0078 a0012c0026t0004g0130 a0012c0026t0006g0072 a0012c0031t0004g0136 a0012c0031t0009g0011 a0012c0042t0004g0121 a0012c0094t0004g0074 a0015c0021t0001g0103 a0015c0021t0001g0110 a0015c0021t0014g0109 a0016c0036t0001g0077 a0016c0036t0001g0079 a0016c0071t0001g0356 a0018c0084t0004g0124 a0018c0085t0004g0126 a0018c0086t0004g0125 a0019c0037t0001g0070 a0019c0037t0001g0080 a0019c0072t0013g0058 a0020c0038t0016g0350 a0020c0038t0020g0352 a0021c0039t0001g0349 a0021c0039t0001g0351 a0023c0073t0017g0057 a0023c0093t0001g0081 a0024c0046t0001g0091 a0024c0087t0001g0083 a0026c0069t0004g0066 a0026c0089t0004g0075 a0028c0034t0001g0114 a0028c0034t0018g0101 a0030c0033t0003g0044 a0030c0033t0003g0047 a0032c0082t0001g0108 a0033c0096t0001g0100 a0036c0100t0005g0097 a0038c0102t0023g0052 a0040c0109t0022g0354 a0041c0092t0005g0085 a0042c0090t0004g0129 a0045c0091t0004g0071 a0046c0098t0006g0098 a0047c0049t0004g0346 a0048c0101t0004g0094 a0049c0108t0004g0063 a0050c0059t0003g0013 a0051c0095t0006g0127 a0052c0097t0004g0099 a0054c0045t0004g0064 a0055c0088t0004g0084 a0056c0074t0005g0132 a0061c0058t0001g0165 a0062c0081t0008g0106 a0067c0083t0002g0107 a0068c0044t0001g0131 a0070c0099t0004g0095	134	358	0.3743	c.167 others(4): Show c.1678A>G	p.Lys others(6): Show p.Lys560Glu	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/28	1870/5350	1678/3774	560/1257	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20681529	G G	A A	missense_variant missense_variant	MODERATE	HG02572.hp2 HG02572.hp2	a0044 a0044	a0044c0060 a0044c0060	a0044c0060t0004 a0044c0060t0004	a0044c0060t0004g0220 a0044c0060t0004g0220	1	358	0.0028	c.173 others(4): Show c.1732G>A	p.Val others(6): Show p.Val578Met	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	15/28	1924/5350	1732/3774	578/1257	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20681647	A A	G G	missense_variant missense_variant	MODERATE	NA19011.hp2 NA19086.hp2 NA19011.hp2 NA19086.hp2	a0030 a0030	a0030c0033 a0030c0033	a0030c0033t0003 a0030c0033t0003	a0030c0033t0003g0044 a0030c0033t0003g0047 a0030c0033t0003g0044 a0030c0033t0003g0047	2	358	0.0056	c.185 others(4): Show c.1850A>G	p.Tyr others(6): Show p.Tyr617Cys	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	15/28	2042/5350	1850/3774	617/1257	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20699849	A A	G G	missense_variant missense_variant	MODERATE	NA19066.hp2 NA19066.hp2	a0069 a0069	a0069c0068 a0069c0068	a0069c0068t0001 a0069c0068t0001	a0069c0068t0001g0229 a0069c0068t0001g0229	1	358	0.0028	c.217 others(4): Show c.2179A>G	p.Thr others(6): Show p.Thr727Ala	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	18/28	2371/5350	2179/3774	727/1257	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20700092	C C	T T	missense_variant missense_variant	MODERATE	HG03471.hp2 HG03471.hp2	a0056 a0056	a0056c0074 a0056c0074	a0056c0074t0005 a0056c0074t0005	a0056c0074t0005g0132 a0056c0074t0005g0132	1	358	0.0028	c.229 others(4): Show c.2294C>T	p.Thr others(6): Show p.Thr765Met	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	19/28	2486/5350	2294/3774	765/1257	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20704737	T T	G G	missense_variant missense_variant	MODERATE	HG03225.hp2 HG03225.hp2	a0054 a0054	a0054c0045 a0054c0045	a0054c0045t0004 a0054c0045t0004	a0054c0045t0004g0064 a0054c0045t0004g0064	1	358	0.0028	c.235 others(4): Show c.2351T>G	p.Phe others(6): Show p.Phe784Cys	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	20/28	2543/5350	2351/3774	784/1257	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20723023	G G	T T	missense_variant missense_variant	MODERATE	HG00323.hp1 HG00323.hp2 HG00438.hp1 others(56): Show HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00621.hp2 HG00735.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01175.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01993.hp1 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02622.hp2 HG02735.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03471.hp1 HG03490.hp1 HG03491.hp2 HG03704.hp2 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 NA18522.hp2 NA18944.hp1 NA18948.hp2 NA18949.hp2 NA18959.hp2 NA18986.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19007.hp2 NA19070.hp2 NA19077.hp1 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA20752.hp2 NA20905.hp2	a0004 a0008 a0010 others(8): Show a0004 a0008 a0010 a0017 a0023 a0032 a0048 a0057 a0062 a0066 a0067	a0004c0004 a0004c0008 a0008c0009 others(13): Show a0004c0004 a0004c0008 a0008c0009 a0008c0027 a0010c0017 a0010c0025 a0017c0040 a0017c0106 a0023c0073 a0023c0093 a0032c0082 a0048c0101 a0057c0079 a0062c0081 a0066c0057 a0067c0083	a0004c0004t0001 a0004c0004t0002 a0004c0004t0024 others(24): Show a0004c0004t0001 a0004c0004t0002 a0004c0004t0024 a0004c0008t0001 a0004c0008t0002 a0004c0008t0005 a0004c0008t0006 a0008c0009t0001 a0008c0009t0002 a0008c0027t0001 a0008c0027t0002 a0010c0017t0003 a0010c0017t0007 a0010c0025t0001 a0010c0025t0003 a0010c0025t0007 a0017c0040t0001 a0017c0040t0002 a0017c0106t0002 a0023c0073t0017 a0023c0093t0001 a0032c0082t0001 a0048c0101t0004 a0057c0079t0001 a0062c0081t0008 a0066c0057t0008 a0067c0083t0002	a0004c0004t0001g0002 a0004c0004t0001g0134 a0004c0004t0001g0135 others(55): Show a0004c0004t0001g0002 a0004c0004t0001g0134 a0004c0004t0001g0135 a0004c0004t0001g0146 a0004c0004t0001g0226 a0004c0004t0001g0335 a0004c0004t0002g0067 a0004c0004t0002g0118 a0004c0004t0002g0257 a0004c0004t0002g0277 a0004c0004t0002g0278 a0004c0004t0002g0279 a0004c0004t0002g0280 a0004c0004t0002g0284 a0004c0004t0002g0285 a0004c0004t0002g0289 a0004c0004t0024g0142 a0004c0008t0001g0143 a0004c0008t0001g0227 a0004c0008t0001g0251 a0004c0008t0001g0276 a0004c0008t0002g0225 a0004c0008t0002g0230 a0004c0008t0002g0236 a0004c0008t0002g0249 a0004c0008t0002g0253 a0004c0008t0005g0339 a0004c0008t0006g0120 a0008c0009t0001g0157 a0008c0009t0001g0168 a0008c0009t0001g0179 a0008c0009t0001g0183 a0008c0009t0001g0190 a0008c0009t0001g0195 a0008c0009t0001g0348 a0008c0009t0002g0173 a0008c0009t0002g0177 a0008c0009t0002g0184 a0008c0027t0001g0162 a0008c0027t0002g0330 a0010c0017t0003g0009 a0010c0017t0003g0023 a0010c0017t0007g0051 a0010c0017t0007g0054 a0010c0025t0001g0096 a0010c0025t0003g0041 a0010c0025t0007g0022 a0017c0040t0001g0304 a0017c0040t0002g0305 a0017c0106t0002g0314 a0023c0073t0017g0057 a0023c0093t0001g0081 a0032c0082t0001g0108 a0048c0101t0004g0094 a0057c0079t0001g0111 a0062c0081t0008g0106 a0066c0057t0008g0202 a0067c0083t0002g0107	59	358	0.1648	c.242 others(4): Show c.2429G>T	p.Gly others(6): Show p.Gly810Val	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	21/28	2621/5350	2429/3774	810/1257	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20727129	G G	T T	missense_variant missense_variant	MODERATE	HG02451.hp1 HG02486.hp2 HG02559.hp2 others(6): Show HG02451.hp1 HG02486.hp2 HG02559.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03453.hp2 HG03516.hp2 NA21309.hp1	a0019 a0025 a0041 others(3): Show a0019 a0025 a0041 a0043 a0051 a0059	a0019c0037 a0019c0072 a0025c0030 others(4): Show a0019c0037 a0019c0072 a0025c0030 a0041c0092 a0043c0067 a0051c0095 a0059c0105	a0019c0037t0001 a0019c0072t0013 a0025c0030t0005 others(4): Show a0019c0037t0001 a0019c0072t0013 a0025c0030t0005 a0041c0092t0005 a0043c0067t0006 a0051c0095t0006 a0059c0105t0001	a0019c0037t0001g0070 a0019c0037t0001g0080 a0019c0072t0013g0058 others(6): Show a0019c0037t0001g0070 a0019c0037t0001g0080 a0019c0072t0013g0058 a0025c0030t0005g0294 a0025c0030t0005g0342 a0041c0092t0005g0085 a0043c0067t0006g0219 a0051c0095t0006g0127 a0059c0105t0001g0319	9	358	0.0251	c.271 others(4): Show c.2715G>T	p.Gln others(6): Show p.Gln905His	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	22/28	2907/5350	2715/3774	905/1257	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20728331	G G	A A	missense_variant missense_variant	MODERATE	HG00738.hp1 HG02145.hp1 HG02257.hp2 others(16): Show HG00738.hp1 HG02145.hp1 HG02257.hp2 HG02258.hp2 HG02717.hp2 HG02809.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 NA18522.hp1 NA18906.hp2 NA19030.hp1 NA21309.hp2	a0014 a0018 a0023 others(9): Show a0014 a0018 a0023 a0024 a0026 a0027 a0033 a0039 a0048 a0052 a0054 a0055	a0014c0024 a0014c0063 a0018c0084 others(13): Show a0014c0024 a0014c0063 a0018c0084 a0023c0073 a0023c0093 a0024c0046 a0024c0087 a0026c0069 a0026c0089 a0027c0028 a0033c0096 a0039c0104 a0048c0101 a0052c0097 a0054c0045 a0055c0088	a0014c0024t0001 a0014c0024t0004 a0014c0063t0001 others(14): Show a0014c0024t0001 a0014c0024t0004 a0014c0063t0001 a0018c0084t0004 a0023c0073t0017 a0023c0093t0001 a0024c0046t0001 a0024c0087t0001 a0026c0069t0004 a0026c0089t0004 a0027c0028t0001 a0033c0096t0001 a0039c0104t0001 a0048c0101t0004 a0052c0097t0004 a0054c0045t0004 a0055c0088t0004	a0014c0024t0001g0207 a0014c0024t0004g0209 a0014c0024t0004g0210 others(16): Show a0014c0024t0001g0207 a0014c0024t0004g0209 a0014c0024t0004g0210 a0014c0063t0001g0206 a0018c0084t0004g0124 a0023c0073t0017g0057 a0023c0093t0001g0081 a0024c0046t0001g0091 a0024c0087t0001g0083 a0026c0069t0004g0066 a0026c0089t0004g0075 a0027c0028t0001g0211 a0027c0028t0001g0341 a0033c0096t0001g0100 a0039c0104t0001g0318 a0048c0101t0004g0094 a0052c0097t0004g0099 a0054c0045t0004g0064 a0055c0088t0004g0084	19	358	0.0531	c.274 others(4): Show c.2743G>A	p.Ala others(6): Show p.Ala915Thr	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	23/28	2935/5350	2743/3774	915/1257	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20728358	T T	C C	missense_variant missense_variant	MODERATE	HG03704.hp1 HG03704.hp1	a0060 a0060	a0060c0051 a0060c0051	a0060c0051t0001 a0060c0051t0001	a0060c0051t0001g0176 a0060c0051t0001g0176	1	358	0.0028	c.277 others(4): Show c.2770T>C	p.Phe others(6): Show p.Phe924Leu	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	23/28	2962/5350	2770/3774	924/1257	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20739023	G G	A A	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(265): Show HG00140.hp1 HG00280.hp1 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 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(36): Show a0001 a0002 a0003 a0004 a0006 a0008 a0010 a0011 a0015 a0016 a0017 a0019 a0020 a0022 a0023 a0024 a0025 a0027 a0029 a0030 a0032 a0033 a0034 a0036 a0038 a0040 a0041 a0043 a0046 a0048 a0050 a0051 a0056 a0057 a0061 a0064 a0065 a0067 a0068	a0001c0001 a0001c0005 a0001c0061 others(58): Show a0001c0001 a0001c0005 a0001c0061 a0001c0064 a0001c0077 a0002c0003 a0002c0012 a0002c0014 a0002c0035 a0002c0041 a0002c0048 a0003c0002 a0003c0010 a0003c0053 a0004c0004 a0004c0008 a0006c0007 a0006c0019 a0008c0009 a0008c0027 a0010c0017 a0010c0025 a0011c0013 a0011c0080 a0015c0021 a0016c0036 a0016c0071 a0017c0040 a0017c0106 a0019c0037 a0019c0072 a0020c0038 a0022c0029 a0023c0073 a0023c0093 a0024c0046 a0024c0087 a0025c0030 a0027c0028 a0029c0075 a0029c0076 a0030c0033 a0032c0082 a0033c0096 a0034c0052 a0036c0100 a0038c0102 a0040c0109 a0041c0092 a0043c0067 a0046c0098 a0048c0101 a0050c0059 a0051c0095 a0056c0074 a0057c0079 a0061c0058 a0064c0054 a0065c0050 a0067c0083 a0068c0044	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(88): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0005t0001 a0001c0005t0002 a0001c0061t0001 a0001c0064t0001 a0001c0077t0001 a0002c0003t0001 a0002c0003t0003 a0002c0003t0007 a0002c0003t0009 a0002c0003t0011 a0002c0012t0001 a0002c0012t0003 a0002c0014t0001 a0002c0014t0003 a0002c0014t0011 a0002c0035t0001 a0002c0035t0005 a0002c0041t0001 a0002c0048t0012 a0003c0002t0001 a0003c0002t0002 a0003c0002t0015 a0003c0010t0001 a0003c0010t0002 a0003c0053t0001 a0004c0004t0001 a0004c0004t0002 a0004c0004t0024 a0004c0008t0001 a0004c0008t0002 a0004c0008t0005 a0004c0008t0006 a0006c0007t0001 a0006c0019t0001 a0006c0019t0002 a0008c0009t0001 a0008c0009t0002 a0008c0027t0001 a0008c0027t0002 a0010c0017t0003 a0010c0017t0007 a0010c0025t0001 a0010c0025t0003 a0010c0025t0007 a0011c0013t0001 a0011c0013t0002 a0011c0080t0001 a0015c0021t0001 a0015c0021t0014 a0016c0036t0001 a0016c0071t0001 a0017c0040t0001 a0017c0040t0002 a0017c0106t0002 a0019c0037t0001 a0019c0072t0013 a0020c0038t0016 a0020c0038t0020 a0022c0029t0001 a0022c0029t0005 a0023c0073t0017 a0023c0093t0001 a0024c0046t0001 a0024c0087t0001 a0025c0030t0005 a0027c0028t0001 a0029c0075t0001 a0029c0076t0001 a0030c0033t0003 a0032c0082t0001 a0033c0096t0001 a0034c0052t0002 a0036c0100t0005 a0038c0102t0023 a0040c0109t0022 a0041c0092t0005 a0043c0067t0006 a0046c0098t0006 a0048c0101t0004 a0050c0059t0003 a0051c0095t0006 a0056c0074t0005 a0057c0079t0001 a0061c0058t0001 a0064c0054t0001 a0065c0050t0001 a0067c0083t0002 a0068c0044t0001	a0001c0001t0001g0001 a0001c0001t0001g0056 a0001c0001t0001g0116 others(263): Show a0001c0001t0001g0001 a0001c0001t0001g0056 a0001c0001t0001g0116 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0208 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0248 a0001c0001t0001g0255 a0001c0001t0001g0264 a0001c0001t0001g0270 a0001c0001t0001g0275 a0001c0001t0001g0281 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0296 a0001c0001t0001g0325 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0002g0069 a0001c0001t0002g0217 a0001c0001t0002g0244 a0001c0001t0002g0250 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0273 a0001c0001t0002g0291 a0001c0001t0002g0295 a0001c0001t0010g0240 a0001c0001t0010g0256 a0001c0005t0001g0139 a0001c0005t0001g0140 a0001c0005t0001g0224 a0001c0005t0001g0228 a0001c0005t0001g0235 a0001c0005t0001g0242 a0001c0005t0001g0243 a0001c0005t0001g0246 a0001c0005t0001g0247 a0001c0005t0001g0252 a0001c0005t0001g0254 a0001c0005t0001g0283 a0001c0005t0001g0327 a0001c0005t0001g0353 a0001c0005t0002g0260 a0001c0061t0001g0267 a0001c0064t0001g0213 a0001c0077t0001g0212 a0002c0003t0001g0347 a0002c0003t0003g0004 a0002c0003t0003g0006 a0002c0003t0003g0016 a0002c0003t0003g0018 a0002c0003t0003g0019 a0002c0003t0003g0020 a0002c0003t0003g0021 a0002c0003t0003g0024 a0002c0003t0003g0025 a0002c0003t0003g0026 a0002c0003t0003g0027 a0002c0003t0003g0028 a0002c0003t0003g0029 a0002c0003t0003g0030 a0002c0003t0003g0031 a0002c0003t0003g0032 a0002c0003t0003g0033 a0002c0003t0003g0034 a0002c0003t0003g0035 a0002c0003t0003g0036 a0002c0003t0003g0038 a0002c0003t0003g0039 a0002c0003t0003g0040 a0002c0003t0003g0042 a0002c0003t0003g0043 a0002c0003t0003g0046 a0002c0003t0003g0049 a0002c0003t0003g0050 a0002c0003t0007g0037 a0002c0003t0009g0014 a0002c0003t0011g0015 a0002c0012t0001g0082 a0002c0012t0001g0090 a0002c0012t0001g0092 a0002c0012t0001g0123 a0002c0012t0001g0357 a0002c0012t0001g0358 a0002c0012t0003g0010 a0002c0014t0001g0196 a0002c0014t0001g0197 a0002c0014t0003g0003 a0002c0014t0003g0048 a0002c0014t0011g0012 a0002c0035t0001g0076 a0002c0035t0005g0093 a0002c0041t0001g0122 a0002c0048t0012g0062 a0003c0002t0001g0119 a0003c0002t0001g0148 a0003c0002t0001g0150 a0003c0002t0001g0151 a0003c0002t0001g0152 a0003c0002t0001g0153 a0003c0002t0001g0154 a0003c0002t0001g0155 a0003c0002t0001g0156 a0003c0002t0001g0158 a0003c0002t0001g0160 a0003c0002t0001g0164 a0003c0002t0001g0166 a0003c0002t0001g0169 a0003c0002t0001g0170 a0003c0002t0001g0172 a0003c0002t0001g0178 a0003c0002t0001g0181 a0003c0002t0001g0185 a0003c0002t0001g0186 a0003c0002t0001g0189 a0003c0002t0001g0191 a0003c0002t0001g0192 a0003c0002t0001g0193 a0003c0002t0001g0194 a0003c0002t0001g0198 a0003c0002t0001g0200 a0003c0002t0001g0328 a0003c0002t0001g0331 a0003c0002t0002g0147 a0003c0002t0002g0159 a0003c0002t0002g0171 a0003c0002t0002g0187 a0003c0002t0015g0334 a0003c0010t0001g0133 a0003c0010t0001g0163 a0003c0010t0001g0199 a0003c0010t0001g0205 a0003c0010t0001g0333 a0003c0010t0002g0149 a0003c0010t0002g0188 a0003c0010t0002g0201 a0003c0010t0002g0332 a0003c0053t0001g0237 a0004c0004t0001g0002 a0004c0004t0001g0134 a0004c0004t0001g0135 a0004c0004t0001g0146 a0004c0004t0001g0226 a0004c0004t0001g0335 a0004c0004t0002g0067 a0004c0004t0002g0118 a0004c0004t0002g0257 a0004c0004t0002g0277 a0004c0004t0002g0278 a0004c0004t0002g0279 a0004c0004t0002g0280 a0004c0004t0002g0284 a0004c0004t0002g0285 a0004c0004t0002g0289 a0004c0004t0024g0142 a0004c0008t0001g0143 a0004c0008t0001g0227 a0004c0008t0001g0251 a0004c0008t0001g0276 a0004c0008t0002g0225 a0004c0008t0002g0230 a0004c0008t0002g0236 a0004c0008t0002g0249 a0004c0008t0002g0253 a0004c0008t0005g0339 a0004c0008t0006g0120 a0006c0007t0001g0300 a0006c0007t0001g0302 a0006c0007t0001g0303 a0006c0007t0001g0306 a0006c0007t0001g0307 a0006c0007t0001g0310 a0006c0007t0001g0311 a0006c0007t0001g0313 a0006c0007t0001g0320 a0006c0007t0001g0322 a0006c0007t0001g0323 a0006c0007t0001g0338 a0006c0019t0001g0301 a0006c0019t0001g0316 a0006c0019t0001g0321 a0006c0019t0002g0337 a0008c0009t0001g0157 a0008c0009t0001g0168 a0008c0009t0001g0179 a0008c0009t0001g0183 a0008c0009t0001g0190 a0008c0009t0001g0195 a0008c0009t0001g0348 a0008c0009t0002g0173 a0008c0009t0002g0177 a0008c0009t0002g0184 a0008c0027t0001g0162 a0008c0027t0002g0330 a0010c0017t0003g0009 a0010c0017t0003g0023 a0010c0017t0007g0051 a0010c0017t0007g0054 a0010c0025t0001g0096 a0010c0025t0003g0041 a0010c0025t0007g0022 a0011c0013t0001g0102 a0011c0013t0001g0104 a0011c0013t0001g0112 a0011c0013t0001g0218 a0011c0013t0002g0113 a0011c0013t0002g0115 a0011c0080t0001g0105 a0015c0021t0001g0103 a0015c0021t0001g0110 a0015c0021t0014g0109 a0016c0036t0001g0077 a0016c0036t0001g0079 a0016c0071t0001g0356 a0017c0040t0001g0304 a0017c0040t0002g0305 a0017c0106t0002g0314 a0019c0037t0001g0070 a0019c0037t0001g0080 a0019c0072t0013g0058 a0020c0038t0016g0350 a0020c0038t0020g0352 a0022c0029t0001g0271 a0022c0029t0005g0214 a0023c0073t0017g0057 a0023c0093t0001g0081 a0024c0046t0001g0091 a0024c0087t0001g0083 a0025c0030t0005g0294 a0025c0030t0005g0342 a0027c0028t0001g0211 a0027c0028t0001g0341 a0029c0075t0001g0355 a0029c0076t0001g0245 a0030c0033t0003g0044 a0030c0033t0003g0047 a0032c0082t0001g0108 a0033c0096t0001g0100 a0034c0052t0002g0204 a0036c0100t0005g0097 a0038c0102t0023g0052 a0040c0109t0022g0354 a0041c0092t0005g0085 a0043c0067t0006g0219 a0046c0098t0006g0098 a0048c0101t0004g0094 a0050c0059t0003g0013 a0051c0095t0006g0127 a0056c0074t0005g0132 a0057c0079t0001g0111 a0061c0058t0001g0165 a0064c0054t0001g0167 a0065c0050t0001g0329 a0067c0083t0002g0107 a0068c0044t0001g0131	268	358	0.7486	c.290 others(4): Show c.2908G>A	p.Glu others(6): Show p.Glu970Lys	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	24/28	3100/5350	2908/3774	970/1257	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20739110	G G	A A	missense_variant missense_variant	MODERATE	HG03209.hp2 HG03453.hp1 HG03209.hp2 HG03453.hp1	a0052 a0055 a0052 a0055	a0052c0097 a0055c0088 a0052c0097 a0055c0088	a0052c0097t0004 a0055c0088t0004 a0052c0097t0004 a0055c0088t0004	a0052c0097t0004g0099 a0055c0088t0004g0084 a0052c0097t0004g0099 a0055c0088t0004g0084	2	358	0.0056	c.299 others(4): Show c.2995G>A	p.Asp others(6): Show p.Asp999Asn	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	24/28	3187/5350	2995/3774	999/1257	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20739133	A A	T T	missense_variant missense_variant	MODERATE	NA18951.hp1 NA18951.hp1	a0064 a0064	a0064c0054 a0064c0054	a0064c0054t0001 a0064c0054t0001	a0064c0054t0001g0167 a0064c0054t0001g0167	1	358	0.0028	c.301 others(4): Show c.3018A>T	p.Lys others(7): Show p.Lys1006Asn	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	24/28	3210/5350	3018/3774	1006/1257	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20745287	T T	C C	missense_variant missense_variant	MODERATE	HG01981.hp1 HG02559.hp1 HG02647.hp2 HG01981.hp1 HG02559.hp1 HG02647.hp2	a0035 a0042 a0045 a0035 a0042 a0045	a0035c0065 a0042c0090 a0045c0091 a0035c0065 a0042c0090 a0045c0091	a0035c0065t0006 a0042c0090t0004 a0045c0091t0004 a0035c0065t0006 a0042c0090t0004 a0045c0091t0004	a0035c0065t0006g0145 a0042c0090t0004g0129 a0045c0091t0004g0071 a0035c0065t0006g0145 a0042c0090t0004g0129 a0045c0091t0004g0071	3	358	0.0084	c.327 others(4): Show c.3278T>C	p.Ile others(7): Show p.Ile1093Thr	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	26/28	3470/5350	3278/3774	1093/1257	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20745379	G G	A A	missense_variant missense_variant	MODERATE	HG02615.hp1 HG02630.hp2 HG02717.hp1 others(8): Show HG02615.hp1 HG02630.hp2 HG02717.hp1 HG02886.hp2 HG02896.hp2 HG03139.hp1 HG03225.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp2 NA18906.hp1	a0012 a0018 a0047 others(2): Show a0012 a0018 a0047 a0053 a0058	a0012c0026 a0012c0031 a0012c0042 others(5): Show a0012c0026 a0012c0031 a0012c0042 a0012c0094 a0018c0085 a0047c0049 a0053c0066 a0058c0078	a0012c0026t0004 a0012c0026t0006 a0012c0031t0004 others(7): Show a0012c0026t0004 a0012c0026t0006 a0012c0031t0004 a0012c0031t0009 a0012c0042t0004 a0012c0094t0004 a0018c0085t0004 a0047c0049t0004 a0053c0066t0004 a0058c0078t0004	a0012c0026t0004g0078 a0012c0026t0004g0130 a0012c0026t0006g0072 others(8): Show a0012c0026t0004g0078 a0012c0026t0004g0130 a0012c0026t0006g0072 a0012c0031t0004g0136 a0012c0031t0009g0011 a0012c0042t0004g0121 a0012c0094t0004g0074 a0018c0085t0004g0126 a0047c0049t0004g0346 a0053c0066t0004g0221 a0058c0078t0004g0340	11	358	0.0307	c.337 others(4): Show c.3370G>A	p.Glu others(7): Show p.Glu1124Lys	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	26/28	3562/5350	3370/3774	1124/1257	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20753477	A A	C C	missense_variant missense_variant	MODERATE	NA18998.hp1 NA18998.hp1	a0067 a0067	a0067c0083 a0067c0083	a0067c0083t0002 a0067c0083t0002	a0067c0083t0002g0107 a0067c0083t0002g0107	1	358	0.0028	c.354 others(4): Show c.3547A>C	p.Thr others(7): Show p.Thr1183Pro	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	27/28	3739/5350	3547/3774	1183/1257	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20753490	A A	G G	missense_variant missense_variant	MODERATE	HG01255.hp2 HG01361.hp1 HG01891.hp1 others(6): Show HG01255.hp2 HG01361.hp1 HG01891.hp1 HG02451.hp1 HG02486.hp1 HG02723.hp2 HG02809.hp1 HG03130.hp1 NA21309.hp1	a0016 a0022 a0025 others(2): Show a0016 a0022 a0025 a0041 a0046	a0016c0036 a0016c0071 a0022c0029 others(3): Show a0016c0036 a0016c0071 a0022c0029 a0025c0030 a0041c0092 a0046c0098	a0016c0036t0001 a0016c0071t0001 a0022c0029t0001 others(4): Show a0016c0036t0001 a0016c0071t0001 a0022c0029t0001 a0022c0029t0005 a0025c0030t0005 a0041c0092t0005 a0046c0098t0006	a0016c0036t0001g0077 a0016c0036t0001g0079 a0016c0071t0001g0356 others(6): Show a0016c0036t0001g0077 a0016c0036t0001g0079 a0016c0071t0001g0356 a0022c0029t0001g0271 a0022c0029t0005g0214 a0025c0030t0005g0294 a0025c0030t0005g0342 a0041c0092t0005g0085 a0046c0098t0006g0098	9	358	0.0251	c.356 others(4): Show c.3560A>G	p.Asp others(7): Show p.Asp1187Gly	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	27/28	3752/5350	3560/3774	1187/1257	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20755508	G G	A A	missense_variant missense_variant	MODERATE	HG01943.hp1 HG01943.hp1	a0034 a0034	a0034c0052 a0034c0052	a0034c0052t0002 a0034c0052t0002	a0034c0052t0002g0204 a0034c0052t0002g0204	1	358	0.0028	c.365 others(4): Show c.3658G>A	p.Ala others(7): Show p.Ala1220Thr	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	28/28	3850/5350	3658/3774	1220/1257	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20755557	C C	T T	missense_variant missense_variant	MODERATE	HG02135.hp1 HG02135.hp1	a0037 a0037	a0037c0055 a0037c0055	a0037c0055t0001 a0037c0055t0001	a0037c0055t0001g0203 a0037c0055t0001g0203	1	358	0.0028	c.370 others(4): Show c.3707C>T	p.Thr others(7): Show p.Thr1236Ile	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	28/28	3899/5350	3707/3774	1236/1257	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20755581	G G	A A	missense_variant missense_variant	MODERATE	HG02559.hp1 HG02559.hp1	a0042 a0042	a0042c0090 a0042c0090	a0042c0090t0004 a0042c0090t0004	a0042c0090t0004g0129 a0042c0090t0004g0129	1	358	0.0028	c.373 others(4): Show c.3731G>A	p.Arg others(7): Show p.Arg1244Gln	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	28/28	3923/5350	3731/3774	1244/1257	chr7	TogoVar
ABCB6_chr2_219204772_219223958	219210418	C C	A A	missense_variant missense_variant	MODERATE	NA20752.hp1 NA20752.hp1	a0014 a0014	a0014c0010 a0014c0010	a0014c0010t0001 a0014c0010t0001	a0014c0010t0001g0037 a0014c0010t0001g0037	1	356	0.0028	c.231 others(4): Show c.2314G>T	p.Val others(6): Show p.Val772Phe	ABCB6	ENSG00000115657.14	transcript	ENST00000265316.9	protein_coding	17/19	2599/2980	2314/2529	772/842	chr2	TogoVar
ABCB6_chr2_219204772_219223958	219210751	C C	T T	missense_variant missense_variant	MODERATE	HG01074.hp1 HG01074.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0035 a0008c0009t0001g0035	1	356	0.0028	c.221 others(4): Show c.2216G>A	p.Arg others(6): Show p.Arg739His	ABCB6	ENSG00000115657.14	transcript	ENST00000265316.9	protein_coding	16/19	2501/2980	2216/2529	739/842	chr2	TogoVar
ABCB6_chr2_219204772_219223958	219213250	T T	C C	missense_variant missense_variant	MODERATE	NA19000.hp1 NA19000.hp1	a0013 a0013	a0013c0012 a0013c0012	a0013c0012t0001 a0013c0012t0001	a0013c0012t0001g0044 a0013c0012t0001g0044	1	356	0.0028	c.179 others(4): Show c.1796A>G	p.Tyr others(6): Show p.Tyr599Cys	ABCB6	ENSG00000115657.14	transcript	ENST00000265316.9	protein_coding	12/19	2081/2980	1796/2529	599/842	chr2	TogoVar

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