Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
ABCA10_chr17_69143007_69233824	69153851	A A	G G	synonymous_variant synonymous_variant	LOW	NA18953.hp2 NA18953.hp2	a0023 a0023	a0023c0036 a0023c0036	a0023c0036t0002 a0023c0036t0002	a0023c0036t0002g0283 a0023c0036t0002g0283	1	346	0.0029	c.394 others(4): Show c.3945T>C	p.Asp others(7): Show p.Asp1315Asp	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	32/39	4501/6008	3945/4632	1315/1543	chr17	TogoVar
ABCA10_chr17_69143007_69233824	69153878	T T	A A	synonymous_variant synonymous_variant	LOW	NA18953.hp2 NA18953.hp2	a0023 a0023	a0023c0036 a0023c0036	a0023c0036t0002 a0023c0036t0002	a0023c0036t0002g0283 a0023c0036t0002g0283	1	346	0.0029	c.391 others(4): Show c.3918A>T	p.Ala others(7): Show p.Ala1306Ala	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	32/39	4474/6008	3918/4632	1306/1543	chr17	TogoVar
ABCA10_chr17_69143007_69233824	69153977	C C	T T	synonymous_variant synonymous_variant	LOW	HG00609.hp2 HG00733.hp2 HG01070.hp1 others(39): Show HG00609.hp2 HG00733.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01433.hp2 HG01928.hp1 HG01934.hp1 HG01975.hp2 HG01978.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02071.hp2 HG02148.hp2 HG02886.hp1 HG02895.hp1 HG03017.hp2 HG03490.hp2 HG03579.hp2 HG03834.hp2 HG04115.hp1 HG04199.hp1 NA18612.hp2 NA18945.hp2 NA18965.hp1 NA18974.hp2 NA18985.hp2 NA18989.hp2 NA18993.hp2 NA19000.hp2 NA19002.hp2 NA19030.hp2 NA19060.hp2 NA19068.hp1 NA19074.hp1 NA19086.hp2 NA20752.hp1	a0004 a0004	a0004c0004 a0004c0006 a0004c0004 a0004c0006	a0004c0004t0003 a0004c0004t0011 a0004c0006t0003 others(1): Show a0004c0004t0003 a0004c0004t0011 a0004c0006t0003 a0004c0006t0011	a0004c0004t0003g0007 a0004c0004t0003g0010 a0004c0004t0003g0077 others(38): Show a0004c0004t0003g0007 a0004c0004t0003g0010 a0004c0004t0003g0077 a0004c0004t0003g0108 a0004c0004t0003g0144 a0004c0004t0003g0194 a0004c0004t0003g0208 a0004c0004t0003g0209 a0004c0004t0003g0210 a0004c0004t0003g0233 a0004c0004t0003g0234 a0004c0004t0003g0235 a0004c0004t0003g0236 a0004c0004t0003g0237 a0004c0004t0003g0238 a0004c0004t0003g0239 a0004c0004t0003g0240 a0004c0004t0003g0242 a0004c0004t0003g0243 a0004c0004t0003g0244 a0004c0004t0003g0248 a0004c0004t0003g0255 a0004c0004t0003g0256 a0004c0004t0003g0270 a0004c0004t0003g0271 a0004c0004t0003g0279 a0004c0004t0003g0303 a0004c0004t0011g0313 a0004c0006t0003g0036 a0004c0006t0003g0037 a0004c0006t0003g0047 a0004c0006t0003g0048 a0004c0006t0003g0053 a0004c0006t0003g0056 a0004c0006t0003g0057 a0004c0006t0003g0107 a0004c0006t0003g0124 a0004c0006t0003g0125 a0004c0006t0003g0155 a0004c0006t0003g0268 a0004c0006t0011g0327	42	346	0.1214	c.381 others(4): Show c.3819G>A	p.Arg others(7): Show p.Arg1273Arg	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	32/39	4375/6008	3819/4632	1273/1543	chr17	TogoVar
ABCA10_chr17_69143007_69233824	69153980	T T	C C	synonymous_variant synonymous_variant	LOW	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0002 a0001c0035t0002	a0001c0035t0002g0297 a0001c0035t0002g0297	1	346	0.0029	c.381 others(4): Show c.3816A>G	p.Val others(7): Show p.Val1272Val	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	32/39	4372/6008	3816/4632	1272/1543	chr17	TogoVar
ABCA10_chr17_69143007_69233824	69153983	T T	C C	synonymous_variant synonymous_variant	LOW	NA18953.hp2 NA18953.hp2	a0023 a0023	a0023c0036 a0023c0036	a0023c0036t0002 a0023c0036t0002	a0023c0036t0002g0283 a0023c0036t0002g0283	1	346	0.0029	c.381 others(4): Show c.3813A>G	p.Ser others(7): Show p.Ser1271Ser	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	32/39	4369/6008	3813/4632	1271/1543	chr17	TogoVar
ABCA10_chr17_69143007_69233824	69153995	G G	C C	synonymous_variant synonymous_variant	LOW	HG01069.hp1 HG01071.hp1 HG01106.hp2 others(6): Show HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 HG02922.hp1 HG03471.hp1 NA19043.hp1 NA20129.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0004 a0007c0008t0007 a0007c0008t0004 a0007c0008t0007	a0007c0008t0004g0197 a0007c0008t0007g0009 a0007c0008t0007g0330 others(5): Show a0007c0008t0004g0197 a0007c0008t0007g0009 a0007c0008t0007g0330 a0007c0008t0007g0331 a0007c0008t0007g0332 a0007c0008t0007g0333 a0007c0008t0007g0334 a0007c0008t0007g0335	9	346	0.0260	c.380 others(4): Show c.3801C>G	p.Gly others(7): Show p.Gly1267Gly	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	32/39	4357/6008	3801/4632	1267/1543	chr17	TogoVar
ABCA10_chr17_69143007_69233824	69156840	T T	C C	synonymous_variant synonymous_variant	LOW	HG01069.hp2 HG01069.hp2	a0003 a0003	a0003c0025 a0003c0025	a0003c0025t0001 a0003c0025t0001	a0003c0025t0001g0045 a0003c0025t0001g0045	1	346	0.0029	c.344 others(4): Show c.3447A>G	p.Pro others(7): Show p.Pro1149Pro	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	28/39	4003/6008	3447/4632	1149/1543	chr17	TogoVar
ABCA10_chr17_69143007_69233824	69174338	T T	G G	synonymous_variant synonymous_variant	LOW	HG02451.hp1 HG02451.hp1	a0014 a0014	a0014c0021 a0014c0021	a0014c0021t0006 a0014c0021t0006	a0014c0021t0006g0304 a0014c0021t0006g0304	1	346	0.0029	c.310 others(4): Show c.3105A>C	p.Ser others(7): Show p.Ser1035Ser	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	25/39	3661/6008	3105/4632	1035/1543	chr17	TogoVar
ABCA10_chr17_69143007_69233824	69174697	T T	C C	synonymous_variant synonymous_variant	LOW	HG02145.hp1 HG02145.hp1	a0017 a0017	a0017c0030 a0017c0030	a0017c0030t0001 a0017c0030t0001	a0017c0030t0001g0260 a0017c0030t0001g0260	1	346	0.0029	c.295 others(4): Show c.2958A>G	p.Pro others(6): Show p.Pro986Pro	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	24/39	3514/6008	2958/4632	986/1543	chr17	TogoVar
ABCA10_chr17_69143007_69233824	69185559	C C	T T	synonymous_variant synonymous_variant	LOW	HG01891.hp1 HG03098.hp1 HG03516.hp2 HG01891.hp1 HG03098.hp1 HG03516.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0006 a0009c0010t0006	a0009c0010t0006g0138 a0009c0010t0006g0143 a0009c0010t0006g0195 a0009c0010t0006g0138 a0009c0010t0006g0143 a0009c0010t0006g0195	3	346	0.0087	c.241 others(4): Show c.2415G>A	p.Glu others(6): Show p.Glu805Glu	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	20/39	2971/6008	2415/4632	805/1543	chr17	TogoVar
ABCA10_chr17_69143007_69233824	69190437	T T	G G	synonymous_variant synonymous_variant	LOW	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0001 a0002c0015t0001	a0002c0015t0001g0003 a0002c0015t0001g0003	2	346	0.0058	c.205 others(4): Show c.2052A>C	p.Ile others(6): Show p.Ile684Ile	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	18/39	2608/6008	2052/4632	684/1543	chr17	TogoVar
ABCA10_chr17_69143007_69233824	69193526	T T	C C	synonymous_variant synonymous_variant	LOW	HG01346.hp2 HG02451.hp2 HG02572.hp1 others(4): Show HG01346.hp2 HG02451.hp2 HG02572.hp1 HG03098.hp2 HG03225.hp1 HG03579.hp1 HG06807.hp1	a0008 a0016 a0008 a0016	a0008c0009 a0016c0037 a0008c0009 a0016c0037	a0008c0009t0009 a0016c0037t0007 a0008c0009t0009 a0016c0037t0007	a0008c0009t0009g0005 a0008c0009t0009g0201 a0008c0009t0009g0227 others(3): Show a0008c0009t0009g0005 a0008c0009t0009g0201 a0008c0009t0009g0227 a0008c0009t0009g0245 a0008c0009t0009g0246 a0016c0037t0007g0328	7	346	0.0202	c.160 others(4): Show c.1608A>G	p.Leu others(6): Show p.Leu536Leu	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	14/39	2164/6008	1608/4632	536/1543	chr17	TogoVar
ABCA10_chr17_69143007_69233824	69193832	T T	C C	synonymous_variant synonymous_variant	LOW	HG01975.hp2 HG02004.hp2 HG02015.hp2 others(10): Show HG01975.hp2 HG02004.hp2 HG02015.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 NA18974.hp2 NA18985.hp2 NA18993.hp2 NA19000.hp2 NA19068.hp1 NA19074.hp1 NA19086.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0011 a0004c0006t0003 a0004c0006t0011	a0004c0006t0003g0036 a0004c0006t0003g0037 a0004c0006t0003g0047 others(10): Show a0004c0006t0003g0036 a0004c0006t0003g0037 a0004c0006t0003g0047 a0004c0006t0003g0048 a0004c0006t0003g0053 a0004c0006t0003g0056 a0004c0006t0003g0057 a0004c0006t0003g0107 a0004c0006t0003g0124 a0004c0006t0003g0125 a0004c0006t0003g0155 a0004c0006t0003g0268 a0004c0006t0011g0327	13	346	0.0376	c.150 others(4): Show c.1503A>G	p.Pro others(6): Show p.Pro501Pro	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	13/39	2059/6008	1503/4632	501/1543	chr17	TogoVar
ABCA10_chr17_69143007_69233824	69193973	A A	G G	synonymous_variant synonymous_variant	LOW	HG01069.hp1 HG01071.hp1 HG01106.hp2 others(6): Show HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 HG02922.hp1 HG03471.hp1 NA19043.hp1 NA20129.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0004 a0007c0008t0007 a0007c0008t0004 a0007c0008t0007	a0007c0008t0004g0197 a0007c0008t0007g0009 a0007c0008t0007g0330 others(5): Show a0007c0008t0004g0197 a0007c0008t0007g0009 a0007c0008t0007g0330 a0007c0008t0007g0331 a0007c0008t0007g0332 a0007c0008t0007g0333 a0007c0008t0007g0334 a0007c0008t0007g0335	9	346	0.0260	c.136 others(4): Show c.1362T>C	p.Tyr others(6): Show p.Tyr454Tyr	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	13/39	1918/6008	1362/4632	454/1543	chr17	TogoVar
ABCA10_chr17_69143007_69233824	69215866	T T	C C	synonymous_variant synonymous_variant	LOW	HG01884.hp1 HG01884.hp1	a0003 a0003	a0003c0028 a0003c0028	a0003c0028t0006 a0003c0028t0006	a0003c0028t0006g0249 a0003c0028t0006g0249	1	346	0.0029	c.807 others(3): Show c.807A>G	p.Gly others(6): Show p.Gly269Gly	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	8/39	1363/6008	807/4632	269/1543	chr17	TogoVar
ABCA10_chr17_69143007_69233824	69215890	A A	G G	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(137): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG02004.hp1 HG02027.hp2 HG02074.hp1 HG02083.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02572.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03195.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03492.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18906.hp1 NA18942.hp2 NA18948.hp1 NA18951.hp1 NA18953.hp1 NA18955.hp1 NA18956.hp1 NA18957.hp2 NA18960.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18969.hp1 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18987.hp1 NA18988.hp1 NA18994.hp2 NA19001.hp1 NA19002.hp1 NA19004.hp2 NA19006.hp1 NA19007.hp1 NA19010.hp2 NA19054.hp1 NA19056.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA19078.hp1 NA19079.hp2 NA19081.hp2 NA19082.hp1 NA19083.hp2 NA19085.hp1 NA19087.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0002 a0003 a0017 others(5): Show a0002 a0003 a0017 a0019 a0020 a0021 a0022 a0026	a0002c0002 a0002c0015 a0003c0003 others(7): Show a0002c0002 a0002c0015 a0003c0003 a0003c0025 a0017c0030 a0019c0026 a0020c0019 a0021c0027 a0022c0024 a0026c0023	a0002c0002t0001 a0002c0002t0005 a0002c0015t0001 others(10): Show a0002c0002t0001 a0002c0002t0005 a0002c0015t0001 a0003c0003t0001 a0003c0003t0005 a0003c0003t0016 a0003c0025t0001 a0017c0030t0001 a0019c0026t0001 a0020c0019t0001 a0021c0027t0001 a0022c0024t0001 a0026c0023t0001	a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0011 others(133): Show a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0011 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0046 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0054 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0085 a0002c0002t0001g0088 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0141 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0148 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0184 a0002c0002t0001g0203 a0002c0002t0001g0228 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0247 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0254 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0005g0008 a0002c0002t0005g0311 a0002c0002t0005g0312 a0002c0015t0001g0003 a0003c0003t0001g0016 a0003c0003t0001g0023 a0003c0003t0001g0024 a0003c0003t0001g0044 a0003c0003t0001g0055 a0003c0003t0001g0059 a0003c0003t0001g0060 a0003c0003t0001g0074 a0003c0003t0001g0086 a0003c0003t0001g0087 a0003c0003t0001g0090 a0003c0003t0001g0091 a0003c0003t0001g0092 a0003c0003t0001g0093 a0003c0003t0001g0094 a0003c0003t0001g0095 a0003c0003t0001g0096 a0003c0003t0001g0097 a0003c0003t0001g0106 a0003c0003t0001g0113 a0003c0003t0001g0115 a0003c0003t0001g0116 a0003c0003t0001g0121 a0003c0003t0001g0130 a0003c0003t0001g0131 a0003c0003t0001g0132 a0003c0003t0001g0133 a0003c0003t0001g0134 a0003c0003t0001g0136 a0003c0003t0001g0137 a0003c0003t0001g0140 a0003c0003t0001g0151 a0003c0003t0001g0152 a0003c0003t0001g0183 a0003c0003t0001g0199 a0003c0003t0001g0202 a0003c0003t0001g0206 a0003c0003t0001g0207 a0003c0003t0001g0213 a0003c0003t0001g0250 a0003c0003t0001g0261 a0003c0003t0001g0301 a0003c0003t0001g0305 a0003c0003t0005g0308 a0003c0003t0005g0315 a0003c0003t0005g0316 a0003c0003t0005g0317 a0003c0003t0005g0318 a0003c0003t0005g0319 a0003c0003t0005g0320 a0003c0003t0005g0321 a0003c0003t0016g0307 a0003c0025t0001g0045 a0017c0030t0001g0260 a0019c0026t0001g0073 a0020c0019t0001g0205 a0021c0027t0001g0229 a0022c0024t0001g0302 a0026c0023t0001g0212	140	328	0.4268	c.783 others(3): Show c.783T>C	p.Tyr others(6): Show p.Tyr261Tyr	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	8/39	1339/6008	783/4632	261/1543	chr17	TogoVar
ABCA10_chr17_69143007_69233824	69219571	C C	T T	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(185): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG02004.hp1 HG02027.hp2 HG02055.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18948.hp1 NA18951.hp1 NA18953.hp1 NA18955.hp1 NA18956.hp1 NA18957.hp2 NA18960.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18969.hp1 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18987.hp1 NA18988.hp1 NA18994.hp2 NA19001.hp1 NA19002.hp1 NA19004.hp2 NA19006.hp1 NA19007.hp1 NA19010.hp2 NA19043.hp1 NA19054.hp1 NA19056.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA19078.hp1 NA19079.hp2 NA19081.hp2 NA19082.hp1 NA19083.hp2 NA19085.hp1 NA19087.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0002 a0003 a0005 others(12): Show a0002 a0003 a0005 a0006 a0007 a0009 a0010 a0014 a0015 a0017 a0019 a0020 a0021 a0022 a0026	a0002c0002 a0002c0015 a0003c0003 others(19): Show a0002c0002 a0002c0015 a0003c0003 a0003c0025 a0003c0028 a0005c0005 a0005c0013 a0005c0014 a0006c0007 a0006c0016 a0007c0008 a0009c0010 a0010c0022 a0014c0020 a0014c0021 a0015c0029 a0017c0030 a0019c0026 a0020c0019 a0021c0027 a0022c0024 a0026c0023	a0002c0002t0001 a0002c0002t0005 a0002c0015t0001 others(25): Show a0002c0002t0001 a0002c0002t0005 a0002c0015t0001 a0003c0003t0001 a0003c0003t0005 a0003c0003t0016 a0003c0025t0001 a0003c0028t0006 a0005c0005t0004 a0005c0005t0015 a0005c0013t0001 a0005c0014t0001 a0006c0007t0004 a0006c0007t0010 a0006c0016t0004 a0007c0008t0004 a0007c0008t0007 a0009c0010t0006 a0010c0022t0012 a0014c0020t0006 a0014c0021t0006 a0015c0029t0014 a0017c0030t0001 a0019c0026t0001 a0020c0019t0001 a0021c0027t0001 a0022c0024t0001 a0026c0023t0001	a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0011 others(180): Show a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0011 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0046 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0054 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0085 a0002c0002t0001g0088 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0141 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0148 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0184 a0002c0002t0001g0203 a0002c0002t0001g0228 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0247 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0254 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0005g0008 a0002c0002t0005g0311 a0002c0002t0005g0312 a0002c0015t0001g0003 a0003c0003t0001g0016 a0003c0003t0001g0023 a0003c0003t0001g0024 a0003c0003t0001g0044 a0003c0003t0001g0055 a0003c0003t0001g0059 a0003c0003t0001g0060 a0003c0003t0001g0074 a0003c0003t0001g0086 a0003c0003t0001g0087 a0003c0003t0001g0090 a0003c0003t0001g0091 a0003c0003t0001g0092 a0003c0003t0001g0093 a0003c0003t0001g0094 a0003c0003t0001g0095 a0003c0003t0001g0096 a0003c0003t0001g0097 a0003c0003t0001g0106 a0003c0003t0001g0113 a0003c0003t0001g0115 a0003c0003t0001g0116 a0003c0003t0001g0121 a0003c0003t0001g0130 a0003c0003t0001g0131 a0003c0003t0001g0132 a0003c0003t0001g0133 a0003c0003t0001g0134 a0003c0003t0001g0136 a0003c0003t0001g0137 a0003c0003t0001g0140 a0003c0003t0001g0151 a0003c0003t0001g0152 a0003c0003t0001g0183 a0003c0003t0001g0199 a0003c0003t0001g0202 a0003c0003t0001g0206 a0003c0003t0001g0207 a0003c0003t0001g0213 a0003c0003t0001g0250 a0003c0003t0001g0261 a0003c0003t0001g0301 a0003c0003t0001g0305 a0003c0003t0005g0308 a0003c0003t0005g0315 a0003c0003t0005g0316 a0003c0003t0005g0317 a0003c0003t0005g0318 a0003c0003t0005g0319 a0003c0003t0005g0320 a0003c0003t0005g0321 a0003c0003t0016g0307 a0003c0025t0001g0045 a0003c0028t0006g0249 a0005c0005t0004g0185 a0005c0005t0004g0200 a0005c0005t0004g0214 a0005c0005t0004g0215 a0005c0005t0004g0216 a0005c0005t0004g0217 a0005c0005t0004g0219 a0005c0005t0004g0220 a0005c0005t0004g0221 a0005c0005t0004g0222 a0005c0005t0004g0223 a0005c0005t0004g0241 a0005c0005t0004g0262 a0005c0005t0015g0218 a0005c0013t0001g0042 a0005c0013t0001g0052 a0005c0014t0001g0142 a0005c0014t0001g0224 a0006c0007t0004g0114 a0006c0007t0004g0186 a0006c0007t0004g0187 a0006c0007t0004g0189 a0006c0007t0004g0190 a0006c0007t0004g0192 a0006c0007t0004g0193 a0006c0007t0004g0196 a0006c0007t0010g0336 a0006c0007t0010g0337 a0006c0007t0010g0338 a0006c0016t0004g0188 a0006c0016t0004g0191 a0007c0008t0004g0197 a0007c0008t0007g0009 a0007c0008t0007g0330 a0007c0008t0007g0331 a0007c0008t0007g0332 a0007c0008t0007g0333 a0007c0008t0007g0334 a0007c0008t0007g0335 a0009c0010t0006g0138 a0009c0010t0006g0143 a0009c0010t0006g0195 a0010c0022t0012g0139 a0014c0020t0006g0135 a0014c0021t0006g0304 a0015c0029t0014g0198 a0017c0030t0001g0260 a0019c0026t0001g0073 a0020c0019t0001g0205 a0021c0027t0001g0229 a0022c0024t0001g0302 a0026c0023t0001g0212	188	346	0.5434	c.504 others(3): Show c.504G>A	p.Val others(6): Show p.Val168Val	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	6/39	1060/6008	504/4632	168/1543	chr17	TogoVar
ABCA12_chr2_214926542_215143626	214950912	T T	C C	synonymous_variant synonymous_variant	LOW	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0056 a0002c0056	a0002c0056t0004 a0002c0056t0004	a0002c0056t0004g0020 a0002c0056t0004g0020	1	196	0.0051	c.681 others(4): Show c.6819A>G	p.Val others(7): Show p.Val2273Val	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	45/53	7237/9298	6819/7788	2273/2595	chr2	TogoVar
ABCA12_chr2_214926542_215143626	214955289	G G	A A	synonymous_variant synonymous_variant	LOW	HG00140.hp1 HG00423.hp1 HG00735.hp1 others(54): Show HG00140.hp1 HG00423.hp1 HG00735.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01123.hp2 HG01243.hp2 HG01258.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01934.hp2 HG01978.hp2 HG02004.hp1 HG02015.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02129.hp1 HG02132.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02630.hp1 HG02647.hp1 HG02723.hp1 HG02738.hp2 HG02818.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG03017.hp2 HG03139.hp1 HG03195.hp2 HG03453.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03834.hp1 NA18951.hp2 NA18971.hp2 NA18984.hp1 NA19000.hp2 NA19012.hp2 NA19066.hp1 NA19070.hp2 NA19090.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0006 a0010 a0012 a0016 a0020	a0001c0001 a0001c0006 a0001c0012 others(19): Show a0001c0001 a0001c0006 a0001c0012 a0001c0016 a0001c0022 a0001c0029 a0001c0031 a0001c0032 a0001c0035 a0001c0042 a0001c0050 a0002c0056 a0002c0057 a0002c0058 a0003c0014 a0003c0066 a0006c0062 a0006c0064 a0010c0046 a0012c0039 a0016c0037 a0020c0053	a0001c0001t0002 a0001c0001t0012 a0001c0001t0013 others(28): Show a0001c0001t0002 a0001c0001t0012 a0001c0001t0013 a0001c0001t0020 a0001c0006t0002 a0001c0006t0005 a0001c0006t0023 a0001c0012t0004 a0001c0012t0014 a0001c0016t0002 a0001c0016t0005 a0001c0022t0006 a0001c0022t0019 a0001c0029t0002 a0001c0031t0005 a0001c0032t0006 a0001c0035t0002 a0001c0042t0013 a0001c0050t0002 a0002c0056t0004 a0002c0057t0006 a0002c0058t0002 a0003c0014t0002 a0003c0014t0006 a0003c0066t0004 a0006c0062t0004 a0006c0064t0004 a0010c0046t0002 a0012c0039t0012 a0016c0037t0004 a0020c0053t0002	a0001c0001t0002g0025 a0001c0001t0002g0032 a0001c0001t0002g0035 others(54): Show a0001c0001t0002g0025 a0001c0001t0002g0032 a0001c0001t0002g0035 a0001c0001t0002g0059 a0001c0001t0002g0066 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0134 a0001c0001t0002g0140 a0001c0001t0002g0150 a0001c0001t0002g0154 a0001c0001t0002g0170 a0001c0001t0012g0191 a0001c0001t0012g0192 a0001c0001t0013g0044 a0001c0001t0020g0155 a0001c0006t0002g0123 a0001c0006t0002g0127 a0001c0006t0002g0135 a0001c0006t0002g0142 a0001c0006t0002g0171 a0001c0006t0005g0152 a0001c0006t0023g0146 a0001c0012t0004g0039 a0001c0012t0004g0064 a0001c0012t0014g0015 a0001c0012t0014g0097 a0001c0016t0002g0086 a0001c0016t0002g0090 a0001c0016t0005g0063 a0001c0022t0006g0112 a0001c0022t0019g0014 a0001c0029t0002g0030 a0001c0031t0005g0158 a0001c0032t0006g0042 a0001c0035t0002g0144 a0001c0042t0013g0045 a0001c0050t0002g0057 a0002c0056t0004g0020 a0002c0057t0006g0177 a0002c0058t0002g0072 a0003c0014t0002g0101 a0003c0014t0006g0098 a0003c0014t0006g0102 a0003c0014t0006g0107 a0003c0066t0004g0103 a0006c0062t0004g0078 a0006c0064t0004g0070 a0010c0046t0002g0162 a0012c0039t0012g0185 a0016c0037t0004g0023 a0020c0053t0002g0129	57	196	0.2908	c.630 others(4): Show c.6306C>T	p.Tyr others(7): Show p.Tyr2102Tyr	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	43/53	6724/9298	6306/7788	2102/2595	chr2	TogoVar
ABCA12_chr2_214926542_215143626	214959038	G G	A A	synonymous_variant synonymous_variant	LOW	HG02055.hp2 HG02257.hp1 HG02258.hp1 others(5): Show HG02055.hp2 HG02257.hp1 HG02258.hp1 HG02486.hp1 HG02559.hp2 HG02723.hp1 HG02818.hp1 HG02896.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0022 a0001c0032 a0002c0057 others(1): Show a0001c0022 a0001c0032 a0002c0057 a0003c0014	a0001c0022t0006 a0001c0022t0019 a0001c0032t0006 others(3): Show a0001c0022t0006 a0001c0022t0019 a0001c0032t0006 a0002c0057t0006 a0003c0014t0002 a0003c0014t0006	a0001c0022t0006g0112 a0001c0022t0019g0014 a0001c0032t0006g0042 others(5): Show a0001c0022t0006g0112 a0001c0022t0019g0014 a0001c0032t0006g0042 a0002c0057t0006g0177 a0003c0014t0002g0101 a0003c0014t0006g0098 a0003c0014t0006g0102 a0003c0014t0006g0107	8	196	0.0408	c.592 others(4): Show c.5925C>T	p.Asp others(7): Show p.Asp1975Asp	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	40/53	6343/9298	5925/7788	1975/2595	chr2	TogoVar
ABCA12_chr2_214926542_215143626	214970344	T T	A A	synonymous_variant synonymous_variant	LOW	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0002 a0001c0035t0002	a0001c0035t0002g0144 a0001c0035t0002g0144	1	196	0.0051	c.561 others(4): Show c.5619A>T	p.Val others(7): Show p.Val1873Val	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	37/53	6037/9298	5619/7788	1873/2595	chr2	TogoVar
ABCA12_chr2_214926542_215143626	214974840	T T	C C	synonymous_variant synonymous_variant	LOW	NA19070.hp2 NA19070.hp2	a0020 a0020	a0020c0053 a0020c0053	a0020c0053t0002 a0020c0053t0002	a0020c0053t0002g0129 a0020c0053t0002g0129	1	196	0.0051	c.540 others(4): Show c.5406A>G	p.Ala others(7): Show p.Ala1802Ala	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	35/53	5824/9298	5406/7788	1802/2595	chr2	TogoVar
ABCA12_chr2_214926542_215143626	214974846	C C	T T	synonymous_variant synonymous_variant	LOW	HG00735.hp2 HG01070.hp2 HG01071.hp1 others(36): Show HG00735.hp2 HG01070.hp2 HG01071.hp1 HG01255.hp1 HG01884.hp1 HG01891.hp1 HG02055.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02896.hp1 HG02922.hp2 HG03041.hp1 HG03209.hp1 HG03225.hp2 HG03471.hp2 HG03579.hp1 HG03710.hp2 NA18906.hp1 NA18962.hp2 NA18971.hp1 NA18984.hp2 NA19007.hp2 NA19070.hp1 NA19088.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0008 a0019	a0001c0009 a0001c0022 a0001c0023 others(17): Show a0001c0009 a0001c0022 a0001c0023 a0001c0025 a0001c0032 a0001c0042 a0001c0044 a0001c0051 a0002c0008 a0002c0013 a0002c0056 a0002c0057 a0003c0014 a0003c0066 a0003c0067 a0004c0061 a0006c0063 a0006c0064 a0008c0026 a0019c0038	a0001c0009t0001 a0001c0009t0003 a0001c0009t0008 others(26): Show a0001c0009t0001 a0001c0009t0003 a0001c0009t0008 a0001c0009t0010 a0001c0022t0006 a0001c0022t0019 a0001c0023t0003 a0001c0025t0003 a0001c0025t0015 a0001c0032t0006 a0001c0042t0013 a0001c0044t0006 a0001c0051t0004 a0002c0008t0004 a0002c0008t0007 a0002c0013t0003 a0002c0013t0008 a0002c0013t0018 a0002c0056t0004 a0002c0057t0006 a0003c0014t0002 a0003c0014t0006 a0003c0066t0004 a0003c0067t0025 a0004c0061t0015 a0006c0063t0003 a0006c0064t0004 a0008c0026t0003 a0019c0038t0008	a0001c0009t0001g0136 a0001c0009t0003g0157 a0001c0009t0008g0188 others(36): Show a0001c0009t0001g0136 a0001c0009t0003g0157 a0001c0009t0008g0188 a0001c0009t0008g0189 a0001c0009t0010g0187 a0001c0022t0006g0112 a0001c0022t0019g0014 a0001c0023t0003g0024 a0001c0023t0003g0153 a0001c0025t0003g0065 a0001c0025t0015g0182 a0001c0032t0006g0042 a0001c0042t0013g0045 a0001c0044t0006g0022 a0001c0051t0004g0076 a0002c0008t0004g0021 a0002c0008t0007g0003 a0002c0008t0007g0005 a0002c0008t0007g0008 a0002c0008t0007g0010 a0002c0008t0007g0011 a0002c0013t0003g0018 a0002c0013t0003g0019 a0002c0013t0008g0190 a0002c0013t0018g0002 a0002c0056t0004g0020 a0002c0057t0006g0177 a0003c0014t0002g0101 a0003c0014t0006g0098 a0003c0014t0006g0102 a0003c0014t0006g0107 a0003c0066t0004g0103 a0003c0067t0025g0183 a0004c0061t0015g0181 a0006c0063t0003g0079 a0006c0064t0004g0070 a0008c0026t0003g0053 a0008c0026t0003g0056 a0019c0038t0008g0195	39	196	0.1990	c.540 others(4): Show c.5400G>A	p.Thr others(7): Show p.Thr1800Thr	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	35/53	5818/9298	5400/7788	1800/2595	chr2	TogoVar
ABCA12_chr2_214926542_215143626	214975805	G G	A A	synonymous_variant synonymous_variant	LOW	HG02572.hp2 HG02922.hp2 HG02572.hp2 HG02922.hp2	a0006 a0006	a0006c0063 a0006c0064 a0006c0063 a0006c0064	a0006c0063t0003 a0006c0064t0004 a0006c0063t0003 a0006c0064t0004	a0006c0063t0003g0079 a0006c0064t0004g0070 a0006c0063t0003g0079 a0006c0064t0004g0070	2	196	0.0102	c.536 others(4): Show c.5361C>T	p.Ser others(7): Show p.Ser1787Ser	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	34/53	5779/9298	5361/7788	1787/2595	chr2	TogoVar
ABCA12_chr2_214926542_215143626	214978840	G G	A A	synonymous_variant synonymous_variant	LOW	HG01891.hp1 HG01891.hp1	a0003 a0003	a0003c0066 a0003c0066	a0003c0066t0004 a0003c0066t0004	a0003c0066t0004g0103 a0003c0066t0004g0103	1	196	0.0051	c.494 others(4): Show c.4941C>T	p.Ile others(7): Show p.Ile1647Ile	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	32/53	5359/9298	4941/7788	1647/2595	chr2	TogoVar
ABCA12_chr2_214926542_215143626	214983661	G G	A A	synonymous_variant synonymous_variant	LOW	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0058 a0002c0058	a0002c0058t0002 a0002c0058t0002	a0002c0058t0002g0072 a0002c0058t0002g0072	1	196	0.0051	c.436 others(4): Show c.4368C>T	p.His others(7): Show p.His1456His	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	29/53	4786/9298	4368/7788	1456/2595	chr2	TogoVar
ABCA12_chr2_214926542_215143626	214986579	A A	G G	synonymous_variant synonymous_variant	LOW	HG01070.hp2 HG01071.hp1 HG01074.hp2 others(61): Show HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01106.hp2 HG01123.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01346.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01943.hp1 HG01975.hp2 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG03098.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03710.hp2 NA18906.hp1 NA18906.hp2 NA18962.hp2 NA18971.hp1 NA18984.hp2 NA19007.hp2 NA19070.hp1 NA19240.hp1 NA20905.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0008 a0012 a0013 a0019 a0021	a0001c0005 a0001c0009 a0001c0010 others(24): Show a0001c0005 a0001c0009 a0001c0010 a0001c0011 a0001c0016 a0001c0025 a0001c0031 a0001c0032 a0001c0033 a0001c0044 a0001c0045 a0002c0007 a0002c0013 a0002c0027 a0002c0056 a0002c0057 a0003c0014 a0003c0065 a0003c0066 a0004c0060 a0004c0061 a0005c0024 a0008c0026 a0012c0039 a0013c0030 a0019c0038 a0021c0052	a0001c0005t0001 a0001c0005t0003 a0001c0005t0005 others(42): Show a0001c0005t0001 a0001c0005t0003 a0001c0005t0005 a0001c0009t0001 a0001c0009t0003 a0001c0009t0008 a0001c0009t0010 a0001c0010t0002 a0001c0010t0003 a0001c0010t0004 a0001c0010t0009 a0001c0011t0001 a0001c0011t0005 a0001c0016t0002 a0001c0016t0005 a0001c0025t0003 a0001c0025t0015 a0001c0031t0005 a0001c0032t0006 a0001c0033t0026 a0001c0044t0006 a0001c0045t0004 a0002c0007t0002 a0002c0007t0003 a0002c0007t0004 a0002c0007t0006 a0002c0007t0017 a0002c0013t0003 a0002c0013t0008 a0002c0013t0018 a0002c0027t0003 a0002c0056t0004 a0002c0057t0006 a0003c0014t0002 a0003c0014t0006 a0003c0065t0001 a0003c0066t0004 a0004c0060t0006 a0004c0061t0015 a0005c0024t0005 a0008c0026t0003 a0012c0039t0012 a0013c0030t0001 a0019c0038t0008 a0021c0052t0001	a0001c0005t0001g0124 a0001c0005t0001g0145 a0001c0005t0003g0077 others(61): Show a0001c0005t0001g0124 a0001c0005t0001g0145 a0001c0005t0003g0077 a0001c0005t0005g0075 a0001c0005t0005g0109 a0001c0005t0005g0110 a0001c0005t0005g0111 a0001c0005t0005g0167 a0001c0009t0001g0136 a0001c0009t0003g0157 a0001c0009t0008g0188 a0001c0009t0008g0189 a0001c0009t0010g0187 a0001c0010t0002g0168 a0001c0010t0003g0143 a0001c0010t0004g0113 a0001c0010t0004g0114 a0001c0010t0009g0001 a0001c0011t0001g0085 a0001c0011t0001g0087 a0001c0011t0001g0125 a0001c0011t0005g0088 a0001c0011t0005g0089 a0001c0016t0002g0086 a0001c0016t0002g0090 a0001c0016t0005g0063 a0001c0025t0003g0065 a0001c0025t0015g0182 a0001c0031t0005g0158 a0001c0032t0006g0042 a0001c0033t0026g0193 a0001c0044t0006g0022 a0001c0045t0004g0067 a0002c0007t0002g0105 a0002c0007t0003g0017 a0002c0007t0003g0069 a0002c0007t0004g0149 a0002c0007t0006g0175 a0002c0007t0006g0176 a0002c0007t0017g0012 a0002c0013t0003g0018 a0002c0013t0003g0019 a0002c0013t0008g0190 a0002c0013t0018g0002 a0002c0027t0003g0073 a0002c0027t0003g0074 a0002c0056t0004g0020 a0002c0057t0006g0177 a0003c0014t0002g0101 a0003c0014t0006g0098 a0003c0014t0006g0102 a0003c0014t0006g0107 a0003c0065t0001g0104 a0003c0066t0004g0103 a0004c0060t0006g0080 a0004c0061t0015g0181 a0005c0024t0005g0093 a0005c0024t0005g0094 a0008c0026t0003g0053 a0008c0026t0003g0056 a0012c0039t0012g0185 a0013c0030t0001g0047 a0019c0038t0008g0195 a0021c0052t0001g0128	64	196	0.3265	c.412 others(4): Show c.4126T>C	p.Leu others(7): Show p.Leu1376Leu	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	28/53	4544/9298	4126/7788	1376/2595	chr2	TogoVar
ABCA12_chr2_214926542_215143626	214989432	C C	T T	synonymous_variant synonymous_variant	LOW	HG01074.hp2 HG01123.hp2 HG01255.hp2 others(12): Show HG01074.hp2 HG01123.hp2 HG01255.hp2 HG01258.hp1 HG01517.hp1 HG01891.hp1 HG01928.hp1 HG01943.hp1 HG01975.hp2 HG02004.hp1 HG02293.hp1 HG02486.hp2 HG03490.hp2 HG03492.hp1 NA18906.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0011 a0001c0016 a0001c0031 others(4): Show a0001c0011 a0001c0016 a0001c0031 a0002c0027 a0003c0065 a0003c0066 a0005c0024	a0001c0011t0001 a0001c0011t0005 a0001c0016t0002 others(6): Show a0001c0011t0001 a0001c0011t0005 a0001c0016t0002 a0001c0016t0005 a0001c0031t0005 a0002c0027t0003 a0003c0065t0001 a0003c0066t0004 a0005c0024t0005	a0001c0011t0001g0085 a0001c0011t0001g0087 a0001c0011t0001g0125 others(12): Show a0001c0011t0001g0085 a0001c0011t0001g0087 a0001c0011t0001g0125 a0001c0011t0005g0088 a0001c0011t0005g0089 a0001c0016t0002g0086 a0001c0016t0002g0090 a0001c0016t0005g0063 a0001c0031t0005g0158 a0002c0027t0003g0073 a0002c0027t0003g0074 a0003c0065t0001g0104 a0003c0066t0004g0103 a0005c0024t0005g0093 a0005c0024t0005g0094	15	196	0.0765	c.372 others(4): Show c.3726G>A	p.Pro others(7): Show p.Pro1242Pro	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	26/53	4144/9298	3726/7788	1242/2595	chr2	TogoVar
ABCA12_chr2_214926542_215143626	214989568	G G	A A	synonymous_variant synonymous_variant	LOW	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0068 a0001c0068	a0001c0068t0003 a0001c0068t0003	a0001c0068t0003g0016 a0001c0068t0003g0016	1	196	0.0051	c.367 others(4): Show c.3678C>T	p.Tyr others(7): Show p.Tyr1226Tyr	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	25/53	4096/9298	3678/7788	1226/2595	chr2	TogoVar
ABCA12_chr2_214926542_215143626	215000851	T T	C C	synonymous_variant synonymous_variant	LOW	HG00438.hp2 HG00735.hp2 HG00741.hp1 others(22): Show HG00438.hp2 HG00735.hp2 HG00741.hp1 HG01517.hp2 HG01978.hp1 HG02071.hp1 HG02074.hp2 HG02129.hp2 HG02132.hp1 HG02738.hp1 HG03017.hp1 HG03490.hp1 HG03492.hp2 HG03669.hp2 HG03834.hp2 NA18951.hp1 NA18981.hp2 NA19000.hp1 NA19009.hp1 NA19060.hp1 NA19066.hp2 NA19088.hp2 NA19091.hp2 NA20300.hp1 NA20905.hp1	a0001 a0015 a0017 a0001 a0015 a0017	a0001c0002 a0001c0021 a0001c0023 others(4): Show a0001c0002 a0001c0021 a0001c0023 a0001c0041 a0001c0050 a0015c0055 a0017c0049	a0001c0002t0001 a0001c0002t0011 a0001c0002t0022 others(8): Show a0001c0002t0001 a0001c0002t0011 a0001c0002t0022 a0001c0002t0024 a0001c0021t0003 a0001c0021t0010 a0001c0023t0003 a0001c0041t0003 a0001c0050t0002 a0015c0055t0010 a0017c0049t0001	a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0041 others(22): Show a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0041 a0001c0002t0001g0049 a0001c0002t0001g0051 a0001c0002t0001g0055 a0001c0002t0001g0058 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0141 a0001c0002t0001g0151 a0001c0002t0001g0156 a0001c0002t0001g0161 a0001c0002t0001g0163 a0001c0002t0011g0165 a0001c0002t0022g0148 a0001c0002t0024g0178 a0001c0021t0003g0174 a0001c0021t0010g0194 a0001c0023t0003g0024 a0001c0023t0003g0153 a0001c0041t0003g0164 a0001c0050t0002g0057 a0015c0055t0010g0184 a0017c0049t0001g0068	25	196	0.1276	c.303 others(4): Show c.3033A>G	p.Pro others(7): Show p.Pro1011Pro	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	22/53	3451/9298	3033/7788	1011/2595	chr2	TogoVar
ABCA12_chr2_214926542_215143626	215011476	C C	T T	synonymous_variant synonymous_variant	LOW	HG02559.hp1 HG02717.hp1 HG03041.hp1 others(4): Show HG02559.hp1 HG02717.hp1 HG03041.hp1 HG03225.hp2 HG03579.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0051 a0002c0008 a0001c0051 a0002c0008	a0001c0051t0004 a0002c0008t0004 a0002c0008t0007 a0001c0051t0004 a0002c0008t0004 a0002c0008t0007	a0001c0051t0004g0076 a0002c0008t0004g0021 a0002c0008t0007g0003 others(4): Show a0001c0051t0004g0076 a0002c0008t0004g0021 a0002c0008t0007g0003 a0002c0008t0007g0005 a0002c0008t0007g0008 a0002c0008t0007g0010 a0002c0008t0007g0011	7	196	0.0357	c.229 others(4): Show c.2295G>A	p.Glu others(6): Show p.Glu765Glu	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	17/53	2713/9298	2295/7788	765/2595	chr2	TogoVar
ABCA12_chr2_214926542_215143626	215011647	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01070.hp2 HG01071.hp1 HG01074.hp2 others(86): Show HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01106.hp2 HG01123.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01346.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01943.hp1 HG01975.hp2 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03710.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18951.hp1 NA18962.hp2 NA18971.hp1 NA18981.hp1 NA18984.hp2 NA19007.hp2 NA19070.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0012 a0013 a0019 a0021	a0001c0005 a0001c0009 a0001c0010 others(34): Show a0001c0005 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0015 a0001c0016 a0001c0022 a0001c0025 a0001c0040 a0001c0041 a0001c0042 a0001c0051 a0001c0068 a0002c0007 a0002c0008 a0002c0013 a0002c0017 a0002c0027 a0002c0056 a0002c0057 a0002c0058 a0003c0014 a0003c0020 a0003c0065 a0003c0066 a0003c0067 a0004c0061 a0005c0024 a0006c0062 a0006c0063 a0006c0064 a0008c0026 a0012c0039 a0013c0030 a0019c0038 a0021c0052	a0001c0005t0001 a0001c0005t0003 a0001c0005t0005 others(59): Show a0001c0005t0001 a0001c0005t0003 a0001c0005t0005 a0001c0009t0001 a0001c0009t0003 a0001c0009t0008 a0001c0009t0010 a0001c0010t0002 a0001c0010t0003 a0001c0010t0004 a0001c0010t0009 a0001c0011t0001 a0001c0011t0005 a0001c0012t0004 a0001c0012t0014 a0001c0015t0007 a0001c0015t0009 a0001c0016t0002 a0001c0016t0005 a0001c0022t0006 a0001c0022t0019 a0001c0025t0003 a0001c0025t0015 a0001c0040t0008 a0001c0041t0003 a0001c0042t0013 a0001c0051t0004 a0001c0068t0003 a0002c0007t0002 a0002c0007t0003 a0002c0007t0004 a0002c0007t0006 a0002c0007t0017 a0002c0008t0004 a0002c0008t0007 a0002c0013t0003 a0002c0013t0008 a0002c0013t0018 a0002c0017t0009 a0002c0017t0016 a0002c0027t0003 a0002c0056t0004 a0002c0057t0006 a0002c0058t0002 a0003c0014t0002 a0003c0014t0006 a0003c0020t0001 a0003c0020t0003 a0003c0020t0008 a0003c0065t0001 a0003c0066t0004 a0003c0067t0025 a0004c0061t0015 a0005c0024t0005 a0006c0062t0004 a0006c0063t0003 a0006c0064t0004 a0008c0026t0003 a0012c0039t0012 a0013c0030t0001 a0019c0038t0008 a0021c0052t0001	a0001c0005t0001g0124 a0001c0005t0001g0145 a0001c0005t0003g0077 others(86): Show a0001c0005t0001g0124 a0001c0005t0001g0145 a0001c0005t0003g0077 a0001c0005t0005g0075 a0001c0005t0005g0109 a0001c0005t0005g0110 a0001c0005t0005g0111 a0001c0005t0005g0167 a0001c0009t0001g0136 a0001c0009t0003g0157 a0001c0009t0008g0188 a0001c0009t0008g0189 a0001c0009t0010g0187 a0001c0010t0002g0168 a0001c0010t0003g0143 a0001c0010t0004g0113 a0001c0010t0004g0114 a0001c0010t0009g0001 a0001c0011t0001g0085 a0001c0011t0001g0087 a0001c0011t0001g0125 a0001c0011t0005g0088 a0001c0011t0005g0089 a0001c0012t0004g0039 a0001c0012t0004g0064 a0001c0012t0014g0015 a0001c0012t0014g0097 a0001c0015t0007g0009 a0001c0015t0007g0013 a0001c0015t0009g0006 a0001c0016t0002g0086 a0001c0016t0002g0090 a0001c0016t0005g0063 a0001c0022t0006g0112 a0001c0022t0019g0014 a0001c0025t0003g0065 a0001c0025t0015g0182 a0001c0040t0008g0186 a0001c0041t0003g0164 a0001c0042t0013g0045 a0001c0051t0004g0076 a0001c0068t0003g0016 a0002c0007t0002g0105 a0002c0007t0003g0017 a0002c0007t0003g0069 a0002c0007t0004g0149 a0002c0007t0006g0175 a0002c0007t0006g0176 a0002c0007t0017g0012 a0002c0008t0004g0021 a0002c0008t0007g0003 a0002c0008t0007g0005 a0002c0008t0007g0008 a0002c0008t0007g0010 a0002c0008t0007g0011 a0002c0013t0003g0018 a0002c0013t0003g0019 a0002c0013t0008g0190 a0002c0013t0018g0002 a0002c0017t0009g0007 a0002c0017t0016g0179 a0002c0017t0016g0180 a0002c0027t0003g0073 a0002c0027t0003g0074 a0002c0056t0004g0020 a0002c0057t0006g0177 a0002c0058t0002g0072 a0003c0014t0002g0101 a0003c0014t0006g0098 a0003c0014t0006g0102 a0003c0014t0006g0107 a0003c0020t0001g0106 a0003c0020t0003g0108 a0003c0020t0008g0197 a0003c0065t0001g0104 a0003c0066t0004g0103 a0003c0067t0025g0183 a0004c0061t0015g0181 a0005c0024t0005g0093 a0005c0024t0005g0094 a0006c0062t0004g0078 a0006c0063t0003g0079 a0006c0064t0004g0070 a0008c0026t0003g0053 a0008c0026t0003g0056 a0012c0039t0012g0185 a0013c0030t0001g0047 a0019c0038t0008g0195 a0021c0052t0001g0128	89	196	0.4541	c.212 others(4): Show c.2124A>G	p.Ala others(6): Show p.Ala708Ala	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	17/53	2542/9298	2124/7788	708/2595	chr2	TogoVar
ABCA12_chr2_214926542_215143626	215019656	C C	T T	synonymous_variant synonymous_variant	LOW	HG01884.hp1 HG02257.hp2 HG02559.hp2 others(7): Show HG01884.hp1 HG02257.hp2 HG02559.hp2 HG02723.hp1 HG02922.hp1 HG03139.hp1 HG03471.hp1 HG03540.hp2 HG06807.hp2 NA18522.hp1	a0001 a0001	a0001c0012 a0001c0015 a0001c0022 others(1): Show a0001c0012 a0001c0015 a0001c0022 a0001c0042	a0001c0012t0004 a0001c0012t0014 a0001c0015t0007 others(4): Show a0001c0012t0004 a0001c0012t0014 a0001c0015t0007 a0001c0015t0009 a0001c0022t0006 a0001c0022t0019 a0001c0042t0013	a0001c0012t0004g0039 a0001c0012t0004g0064 a0001c0012t0014g0015 others(7): Show a0001c0012t0004g0039 a0001c0012t0004g0064 a0001c0012t0014g0015 a0001c0012t0014g0097 a0001c0015t0007g0009 a0001c0015t0007g0013 a0001c0015t0009g0006 a0001c0022t0006g0112 a0001c0022t0019g0014 a0001c0042t0013g0045	10	196	0.0510	c.142 others(4): Show c.1428G>A	p.Ala others(6): Show p.Ala476Ala	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	12/53	1846/9298	1428/7788	476/2595	chr2	TogoVar
ABCA12_chr2_214926542_215143626	215026868	A A	G G	synonymous_variant synonymous_variant	LOW	HG03516.hp2 HG03516.hp2	a0004 a0004	a0004c0059 a0004c0059	a0004c0059t0004 a0004c0059t0004	a0004c0059t0004g0071 a0004c0059t0004g0071	1	196	0.0051	c.113 others(4): Show c.1132T>C	p.Leu others(6): Show p.Leu378Leu	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	10/53	1550/9298	1132/7788	378/2595	chr2	TogoVar
ABCA12_chr2_214926542_215143626	215037050	C C	T T	synonymous_variant synonymous_variant	LOW	HG00423.hp2 HG00438.hp1 HG00735.hp1 others(44): Show HG00423.hp2 HG00438.hp1 HG00735.hp1 HG00741.hp2 HG01106.hp1 HG01123.hp1 HG01243.hp2 HG01255.hp1 HG01346.hp1 HG01517.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02258.hp1 HG02523.hp2 HG02615.hp1 HG02630.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03453.hp1 HG03579.hp2 HG03654.hp2 NA18951.hp1 NA18962.hp2 NA18971.hp1 NA18971.hp2 NA18981.hp1 NA18984.hp1 NA18984.hp2 NA19002.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19012.hp1 NA19060.hp2 NA19070.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp1	a0001 a0005 a0011 others(4): Show a0001 a0005 a0011 a0012 a0013 a0016 a0019	a0001c0003 a0001c0006 a0001c0009 others(14): Show a0001c0003 a0001c0006 a0001c0009 a0001c0010 a0001c0021 a0001c0031 a0001c0032 a0001c0033 a0001c0035 a0001c0040 a0001c0041 a0005c0034 a0011c0036 a0012c0039 a0013c0030 a0016c0037 a0019c0038	a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 others(26): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0003t0011 a0001c0006t0002 a0001c0006t0005 a0001c0006t0023 a0001c0009t0001 a0001c0009t0003 a0001c0009t0008 a0001c0009t0010 a0001c0010t0002 a0001c0010t0003 a0001c0010t0004 a0001c0010t0009 a0001c0021t0003 a0001c0021t0010 a0001c0031t0005 a0001c0032t0006 a0001c0033t0026 a0001c0035t0002 a0001c0040t0008 a0001c0041t0003 a0005c0034t0005 a0011c0036t0001 a0012c0039t0012 a0013c0030t0001 a0016c0037t0004 a0019c0038t0008	a0001c0003t0001g0031 a0001c0003t0001g0033 a0001c0003t0001g0036 others(44): Show a0001c0003t0001g0031 a0001c0003t0001g0033 a0001c0003t0001g0036 a0001c0003t0001g0038 a0001c0003t0001g0043 a0001c0003t0001g0121 a0001c0003t0001g0133 a0001c0003t0001g0147 a0001c0003t0001g0159 a0001c0003t0001g0166 a0001c0003t0001g0172 a0001c0003t0001g0173 a0001c0003t0002g0037 a0001c0003t0006g0048 a0001c0003t0011g0118 a0001c0003t0011g0139 a0001c0006t0002g0123 a0001c0006t0002g0127 a0001c0006t0002g0135 a0001c0006t0002g0142 a0001c0006t0002g0171 a0001c0006t0005g0152 a0001c0006t0023g0146 a0001c0009t0001g0136 a0001c0009t0003g0157 a0001c0009t0008g0188 a0001c0009t0008g0189 a0001c0009t0010g0187 a0001c0010t0002g0168 a0001c0010t0003g0143 a0001c0010t0004g0113 a0001c0010t0004g0114 a0001c0010t0009g0001 a0001c0021t0003g0174 a0001c0021t0010g0194 a0001c0031t0005g0158 a0001c0032t0006g0042 a0001c0033t0026g0193 a0001c0035t0002g0144 a0001c0040t0008g0186 a0001c0041t0003g0164 a0005c0034t0005g0169 a0011c0036t0001g0084 a0012c0039t0012g0185 a0013c0030t0001g0047 a0016c0037t0004g0023 a0019c0038t0008g0195	47	196	0.2398	c.888 others(3): Show c.888G>A	p.Val others(6): Show p.Val296Val	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	8/53	1306/9298	888/7788	296/2595	chr2	TogoVar
ABCA12_chr2_214926542_215143626	215049767	T T	C C	synonymous_variant synonymous_variant	LOW	HG01243.hp1 HG01891.hp1 HG02055.hp2 others(21): Show HG01243.hp1 HG01891.hp1 HG02055.hp2 HG02257.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02922.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03516.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19240.hp2 NA20129.hp1	a0003 a0004 a0006 others(2): Show a0003 a0004 a0006 a0007 a0009	a0003c0014 a0003c0020 a0003c0065 others(11): Show a0003c0014 a0003c0020 a0003c0065 a0003c0066 a0003c0067 a0004c0018 a0004c0059 a0004c0060 a0004c0061 a0006c0062 a0006c0063 a0006c0064 a0007c0019 a0009c0028	a0003c0014t0002 a0003c0014t0006 a0003c0020t0001 others(16): Show a0003c0014t0002 a0003c0014t0006 a0003c0020t0001 a0003c0020t0003 a0003c0020t0008 a0003c0065t0001 a0003c0066t0004 a0003c0067t0025 a0004c0018t0005 a0004c0018t0008 a0004c0018t0021 a0004c0059t0004 a0004c0060t0006 a0004c0061t0015 a0006c0062t0004 a0006c0063t0003 a0006c0064t0004 a0007c0019t0001 a0009c0028t0003	a0003c0014t0002g0101 a0003c0014t0006g0098 a0003c0014t0006g0102 others(21): Show a0003c0014t0002g0101 a0003c0014t0006g0098 a0003c0014t0006g0102 a0003c0014t0006g0107 a0003c0020t0001g0106 a0003c0020t0003g0108 a0003c0020t0008g0197 a0003c0065t0001g0104 a0003c0066t0004g0103 a0003c0067t0025g0183 a0004c0018t0005g0095 a0004c0018t0008g0196 a0004c0018t0021g0082 a0004c0059t0004g0071 a0004c0060t0006g0080 a0004c0061t0015g0181 a0006c0062t0004g0078 a0006c0063t0003g0079 a0006c0064t0004g0070 a0007c0019t0001g0096 a0007c0019t0001g0099 a0007c0019t0001g0100 a0009c0028t0003g0081 a0009c0028t0003g0083	24	196	0.1224	c.552 others(3): Show c.552A>G	p.Leu others(6): Show p.Leu184Leu	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	6/53	970/9298	552/7788	184/2595	chr2	TogoVar
ABCA12_chr2_214926542_215143626	215049770	T T	C C	synonymous_variant synonymous_variant	LOW	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0068 a0001c0068	a0001c0068t0003 a0001c0068t0003	a0001c0068t0003g0016 a0001c0068t0003g0016	1	196	0.0051	c.549 others(3): Show c.549A>G	p.Glu others(6): Show p.Glu183Glu	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	6/53	967/9298	549/7788	183/2595	chr2	TogoVar
ABCA12_chr2_214926542_215143626	215052568	A A	G G	synonymous_variant synonymous_variant	LOW	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0002 a0001c0029t0002	a0001c0029t0002g0030 a0001c0029t0002g0030	1	196	0.0051	c.426 others(3): Show c.426T>C	p.Ser others(6): Show p.Ser142Ser	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	5/53	844/9298	426/7788	142/2595	chr2	TogoVar
ABCA13_chr7_48166458_48652497	48198298	T T	C C	synonymous_variant synonymous_variant	LOW	HG02523.hp2 HG02523.hp2	a0019 a0019	a0019c0034 a0019c0034	a0019c0034t0003 a0019c0034t0003	a0019c0034t0003g0116 a0019c0034t0003g0116	1	176	0.0057	c.225 others(3): Show c.225T>C	p.Leu others(5): Show p.Leu75Leu	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	3/62	251/17188	225/15177	75/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48227279	C C	A A	synonymous_variant synonymous_variant	LOW	HG02723.hp2 HG06807.hp1 HG02723.hp2 HG06807.hp1	a0056 a0074 a0056 a0074	a0056c0035 a0074c0036 a0056c0035 a0074c0036	a0056c0035t0002 a0074c0036t0007 a0056c0035t0002 a0074c0036t0007	a0056c0035t0002g0157 a0074c0036t0007g0083 a0056c0035t0002g0157 a0074c0036t0007g0083	2	176	0.0114	c.486 others(3): Show c.486C>A	p.Thr others(6): Show p.Thr162Thr	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	6/62	512/17188	486/15177	162/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48244582	G G	A A	synonymous_variant synonymous_variant	LOW	HG02717.hp2 HG02717.hp2	a0054 a0054	a0054c0038 a0054c0038	a0054c0038t0005 a0054c0038t0005	a0054c0038t0005g0135 a0054c0038t0005g0135	1	176	0.0057	c.126 others(4): Show c.1269G>A	p.Gln others(6): Show p.Gln423Gln	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	11/62	1295/17188	1269/15177	423/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48244657	T T	C C	synonymous_variant synonymous_variant	LOW	HG02258.hp2 HG03453.hp2 HG02258.hp2 HG03453.hp2	a0045 a0068 a0045 a0068	a0045c0041 a0068c0040 a0045c0041 a0068c0040	a0045c0041t0004 a0068c0040t0001 a0045c0041t0004 a0068c0040t0001	a0045c0041t0004g0039 a0068c0040t0001g0009 a0045c0041t0004g0039 a0068c0040t0001g0009	2	176	0.0114	c.134 others(4): Show c.1344T>C	p.Asp others(6): Show p.Asp448Asp	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	11/62	1370/17188	1344/15177	448/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48245570	A A	G G	synonymous_variant synonymous_variant	LOW	HG02723.hp2 HG06807.hp1 HG02723.hp2 HG06807.hp1	a0056 a0074 a0056 a0074	a0056c0035 a0074c0036 a0056c0035 a0074c0036	a0056c0035t0002 a0074c0036t0007 a0056c0035t0002 a0074c0036t0007	a0056c0035t0002g0157 a0074c0036t0007g0083 a0056c0035t0002g0157 a0074c0036t0007g0083	2	176	0.0114	c.144 others(4): Show c.1449A>G	p.Gln others(6): Show p.Gln483Gln	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	12/62	1475/17188	1449/15177	483/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48273077	G G	A A	synonymous_variant synonymous_variant	LOW	HG00408.hp1 HG00408.hp2 HG00544.hp1 others(103): Show HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00735.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01433.hp2 HG01516.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02258.hp2 HG02280.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02886.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03834.hp2 HG04204.hp1 HG04204.hp2 NA18906.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18961.hp1 NA18961.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18998.hp1 NA18998.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19060.hp1 NA19062.hp2 NA19074.hp1 NA19074.hp2 NA19083.hp1 NA19083.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0005 others(43): Show a0001 a0002 a0005 a0006 a0007 a0008 a0011 a0012 a0013 a0016 a0017 a0019 a0020 a0022 a0028 a0029 a0031 a0033 a0034 a0037 a0038 a0040 a0042 a0044 a0045 a0046 a0047 a0052 a0054 a0055 a0057 a0060 a0061 a0064 a0065 a0066 a0067 a0068 a0070 a0076 a0079 a0080 a0081 a0082 a0085 a0088	a0001c0001 a0001c0010 a0001c0103 others(59): Show a0001c0001 a0001c0010 a0001c0103 a0001c0104 a0002c0002 a0002c0022 a0002c0065 a0005c0007 a0005c0023 a0005c0063 a0006c0005 a0006c0024 a0007c0011 a0007c0101 a0007c0102 a0008c0013 a0008c0032 a0011c0031 a0011c0033 a0012c0012 a0012c0107 a0013c0006 a0016c0029 a0017c0094 a0017c0095 a0019c0034 a0019c0109 a0020c0020 a0022c0030 a0028c0028 a0029c0096 a0029c0097 a0031c0061 a0033c0068 a0034c0093 a0037c0042 a0038c0069 a0040c0064 a0042c0112 a0044c0114 a0045c0041 a0046c0067 a0047c0066 a0052c0106 a0054c0038 a0055c0057 a0057c0054 a0060c0111 a0061c0098 a0064c0105 a0065c0056 a0066c0071 a0067c0053 a0068c0040 a0070c0055 a0076c0110 a0079c0108 a0080c0100 a0081c0113 a0082c0062 a0085c0070 a0088c0099	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(74): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0010t0001 a0001c0010t0002 a0001c0103t0006 a0001c0104t0005 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0022t0002 a0002c0022t0004 a0002c0065t0006 a0005c0007t0002 a0005c0007t0003 a0005c0023t0003 a0005c0063t0001 a0006c0005t0003 a0006c0024t0001 a0006c0024t0003 a0007c0011t0003 a0007c0011t0007 a0007c0101t0003 a0007c0102t0001 a0008c0013t0001 a0008c0013t0002 a0008c0013t0005 a0008c0032t0001 a0008c0032t0002 a0011c0031t0003 a0011c0033t0003 a0012c0012t0002 a0012c0107t0001 a0013c0006t0001 a0016c0029t0001 a0016c0029t0004 a0017c0094t0002 a0017c0095t0002 a0019c0034t0003 a0019c0109t0001 a0020c0020t0001 a0020c0020t0005 a0022c0030t0003 a0028c0028t0003 a0029c0096t0001 a0029c0097t0001 a0031c0061t0004 a0033c0068t0002 a0034c0093t0002 a0037c0042t0004 a0038c0069t0001 a0040c0064t0001 a0042c0112t0011 a0044c0114t0004 a0045c0041t0004 a0046c0067t0009 a0047c0066t0001 a0052c0106t0005 a0054c0038t0005 a0055c0057t0001 a0057c0054t0002 a0060c0111t0006 a0061c0098t0001 a0064c0105t0005 a0065c0056t0002 a0066c0071t0005 a0067c0053t0004 a0068c0040t0001 a0070c0055t0003 a0076c0110t0007 a0079c0108t0001 a0080c0100t0001 a0081c0113t0003 a0082c0062t0003 a0085c0070t0003 a0088c0099t0002	a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0001g0040 others(103): Show a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0082 a0001c0001t0001g0133 a0001c0001t0001g0177 a0001c0001t0002g0058 a0001c0001t0002g0066 a0001c0001t0002g0085 a0001c0001t0004g0049 a0001c0001t0004g0164 a0001c0001t0006g0178 a0001c0010t0001g0054 a0001c0010t0001g0067 a0001c0010t0002g0075 a0001c0103t0006g0059 a0001c0104t0005g0044 a0002c0002t0001g0131 a0002c0002t0002g0156 a0002c0002t0002g0167 a0002c0002t0004g0106 a0002c0002t0004g0142 a0002c0022t0002g0124 a0002c0022t0004g0163 a0002c0065t0006g0128 a0005c0007t0002g0129 a0005c0007t0003g0121 a0005c0007t0003g0137 a0005c0023t0003g0138 a0005c0023t0003g0171 a0005c0063t0001g0010 a0006c0005t0003g0087 a0006c0005t0003g0093 a0006c0005t0003g0094 a0006c0005t0003g0132 a0006c0024t0001g0019 a0006c0024t0003g0107 a0007c0011t0003g0055 a0007c0011t0003g0130 a0007c0011t0007g0165 a0007c0101t0003g0141 a0007c0102t0001g0020 a0008c0013t0001g0110 a0008c0013t0002g0089 a0008c0013t0005g0045 a0008c0032t0001g0080 a0008c0032t0002g0047 a0011c0031t0003g0112 a0011c0031t0003g0118 a0011c0033t0003g0060 a0011c0033t0003g0072 a0012c0012t0002g0056 a0012c0012t0002g0073 a0012c0012t0002g0098 a0012c0107t0001g0111 a0013c0006t0001g0002 a0013c0006t0001g0016 a0013c0006t0001g0017 a0016c0029t0001g0134 a0016c0029t0004g0071 a0017c0094t0002g0079 a0017c0095t0002g0043 a0019c0034t0003g0116 a0019c0109t0001g0120 a0020c0020t0001g0007 a0020c0020t0005g0123 a0022c0030t0003g0038 a0022c0030t0003g0069 a0028c0028t0003g0005 a0028c0028t0003g0011 a0029c0096t0001g0053 a0029c0097t0001g0084 a0031c0061t0004g0013 a0033c0068t0002g0061 a0034c0093t0002g0150 a0037c0042t0004g0074 a0038c0069t0001g0146 a0040c0064t0001g0127 a0042c0112t0011g0114 a0044c0114t0004g0065 a0045c0041t0004g0039 a0046c0067t0009g0144 a0047c0066t0001g0145 a0052c0106t0005g0006 a0054c0038t0005g0135 a0055c0057t0001g0001 a0057c0054t0002g0015 a0060c0111t0006g0031 a0061c0098t0001g0070 a0064c0105t0005g0037 a0065c0056t0002g0018 a0066c0071t0005g0105 a0067c0053t0004g0122 a0068c0040t0001g0009 a0070c0055t0003g0125 a0076c0110t0007g0126 a0079c0108t0001g0113 a0080c0100t0001g0041 a0081c0113t0003g0097 a0082c0062t0003g0143 a0085c0070t0003g0014 a0088c0099t0002g0062	106	176	0.6023	c.341 others(4): Show c.3411G>A	p.Val others(7): Show p.Val1137Val	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	17/62	3437/17188	3411/15177	1137/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48273494	A A	C C	synonymous_variant synonymous_variant	LOW	HG01243.hp2 HG02055.hp1 HG02258.hp2 others(9): Show HG01243.hp2 HG02055.hp1 HG02258.hp2 HG02723.hp1 HG02809.hp1 HG02922.hp1 HG02965.hp1 HG03098.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2	a0013 a0020 a0045 others(6): Show a0013 a0020 a0045 a0055 a0057 a0065 a0067 a0068 a0070	a0013c0006 a0020c0020 a0045c0041 others(6): Show a0013c0006 a0020c0020 a0045c0041 a0055c0057 a0057c0054 a0065c0056 a0067c0053 a0068c0040 a0070c0055	a0013c0006t0001 a0020c0020t0001 a0020c0020t0005 others(7): Show a0013c0006t0001 a0020c0020t0001 a0020c0020t0005 a0045c0041t0004 a0055c0057t0001 a0057c0054t0002 a0065c0056t0002 a0067c0053t0004 a0068c0040t0001 a0070c0055t0003	a0013c0006t0001g0002 a0013c0006t0001g0016 a0013c0006t0001g0017 others(9): Show a0013c0006t0001g0002 a0013c0006t0001g0016 a0013c0006t0001g0017 a0020c0020t0001g0007 a0020c0020t0005g0123 a0045c0041t0004g0039 a0055c0057t0001g0001 a0057c0054t0002g0015 a0065c0056t0002g0018 a0067c0053t0004g0122 a0068c0040t0001g0009 a0070c0055t0003g0125	12	176	0.0682	c.382 others(4): Show c.3828A>C	p.Thr others(7): Show p.Thr1276Thr	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	17/62	3854/17188	3828/15177	1276/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48273570	C C	T T	synonymous_variant synonymous_variant	LOW	HG02717.hp1 HG02717.hp1	a0053 a0053	a0053c0091 a0053c0091	a0053c0091t0001 a0053c0091t0001	a0053c0091t0001g0108 a0053c0091t0001g0108	1	176	0.0057	c.390 others(4): Show c.3904C>T	p.Leu others(7): Show p.Leu1302Leu	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	17/62	3930/17188	3904/15177	1302/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48274160	G G	A A	synonymous_variant synonymous_variant	LOW	HG00408.hp2 HG00558.hp1 HG00558.hp2 others(24): Show HG00408.hp2 HG00558.hp1 HG00558.hp2 HG00735.hp2 HG01167.hp1 HG01169.hp2 HG01981.hp1 HG02055.hp2 HG02071.hp2 HG02109.hp1 HG02280.hp1 HG02572.hp1 HG02717.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 NA18944.hp2 NA18961.hp2 NA18977.hp2 NA18986.hp2 NA18991.hp1 NA18992.hp1 NA18998.hp1 NA19010.hp2 NA19030.hp2 NA19074.hp2 NA19083.hp1	a0002 a0005 a0006 others(7): Show a0002 a0005 a0006 a0033 a0038 a0040 a0046 a0047 a0054 a0082	a0002c0002 a0002c0022 a0002c0065 others(12): Show a0002c0002 a0002c0022 a0002c0065 a0005c0007 a0005c0023 a0005c0063 a0006c0005 a0006c0024 a0033c0068 a0038c0069 a0040c0064 a0046c0067 a0047c0066 a0054c0038 a0082c0062	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 others(17): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0022t0002 a0002c0022t0004 a0002c0065t0006 a0005c0007t0002 a0005c0007t0003 a0005c0023t0003 a0005c0063t0001 a0006c0005t0003 a0006c0024t0001 a0006c0024t0003 a0033c0068t0002 a0038c0069t0001 a0040c0064t0001 a0046c0067t0009 a0047c0066t0001 a0054c0038t0005 a0082c0062t0003	a0002c0002t0001g0131 a0002c0002t0002g0156 a0002c0002t0002g0167 others(24): Show a0002c0002t0001g0131 a0002c0002t0002g0156 a0002c0002t0002g0167 a0002c0002t0004g0106 a0002c0002t0004g0142 a0002c0022t0002g0124 a0002c0022t0004g0163 a0002c0065t0006g0128 a0005c0007t0002g0129 a0005c0007t0003g0121 a0005c0007t0003g0137 a0005c0023t0003g0138 a0005c0023t0003g0171 a0005c0063t0001g0010 a0006c0005t0003g0087 a0006c0005t0003g0093 a0006c0005t0003g0094 a0006c0005t0003g0132 a0006c0024t0001g0019 a0006c0024t0003g0107 a0033c0068t0002g0061 a0038c0069t0001g0146 a0040c0064t0001g0127 a0046c0067t0009g0144 a0047c0066t0001g0145 a0054c0038t0005g0135 a0082c0062t0003g0143	27	176	0.1534	c.449 others(4): Show c.4494G>A	p.Lys others(7): Show p.Lys1498Lys	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	17/62	4520/17188	4494/15177	1498/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48274352	C C	T T	synonymous_variant synonymous_variant	LOW	HG00544.hp2 HG00738.hp1 HG00741.hp2 others(18): Show HG00544.hp2 HG00738.hp1 HG00741.hp2 HG01516.hp1 HG01952.hp2 HG01975.hp2 HG01993.hp1 HG02886.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03654.hp1 HG06807.hp2 NA18953.hp1 NA18959.hp2 NA18987.hp1 NA18994.hp2 NA19007.hp2 NA19062.hp1 NA20129.hp2 NA20300.hp1	a0009 a0010 a0015 others(9): Show a0009 a0010 a0015 a0021 a0032 a0039 a0058 a0075 a0078 a0083 a0084 a0086	a0009c0017 a0009c0044 a0009c0046 others(14): Show a0009c0017 a0009c0044 a0009c0046 a0010c0016 a0010c0043 a0010c0045 a0015c0019 a0015c0047 a0021c0018 a0032c0051 a0039c0092 a0058c0049 a0075c0048 a0078c0052 a0083c0050 a0084c0058 a0086c0037	a0009c0017t0002 a0009c0017t0003 a0009c0044t0001 others(16): Show a0009c0017t0002 a0009c0017t0003 a0009c0044t0001 a0009c0046t0002 a0010c0016t0001 a0010c0043t0002 a0010c0045t0002 a0015c0019t0002 a0015c0047t0001 a0021c0018t0001 a0021c0018t0004 a0032c0051t0001 a0039c0092t0004 a0058c0049t0001 a0075c0048t0004 a0078c0052t0001 a0083c0050t0004 a0084c0058t0001 a0086c0037t0005	a0009c0017t0002g0052 a0009c0017t0003g0068 a0009c0044t0001g0100 others(18): Show a0009c0017t0002g0052 a0009c0017t0003g0068 a0009c0044t0001g0100 a0009c0046t0002g0090 a0010c0016t0001g0088 a0010c0016t0001g0117 a0010c0043t0002g0102 a0010c0045t0002g0076 a0015c0019t0002g0136 a0015c0019t0002g0175 a0015c0047t0001g0155 a0021c0018t0001g0109 a0021c0018t0004g0095 a0032c0051t0001g0026 a0039c0092t0004g0099 a0058c0049t0001g0086 a0075c0048t0004g0159 a0078c0052t0001g0101 a0083c0050t0004g0103 a0084c0058t0001g0092 a0086c0037t0005g0096	21	176	0.1193	c.468 others(4): Show c.4686C>T	p.Tyr others(7): Show p.Tyr1562Tyr	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	17/62	4712/17188	4686/15177	1562/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48274682	G G	A A	synonymous_variant synonymous_variant	LOW	HG00544.hp2 HG00738.hp1 HG00741.hp1 others(34): Show HG00544.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01123.hp1 HG01516.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02083.hp1 HG02109.hp2 HG02145.hp2 HG02258.hp1 HG02886.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03492.hp2 HG03654.hp1 HG06807.hp2 NA18942.hp1 NA18953.hp1 NA18959.hp2 NA18987.hp1 NA18991.hp2 NA18994.hp2 NA19007.hp2 NA19043.hp1 NA19060.hp2 NA19062.hp1 NA20129.hp2 NA20300.hp1	a0003 a0009 a0010 others(15): Show a0003 a0009 a0010 a0015 a0021 a0023 a0024 a0027 a0032 a0039 a0041 a0043 a0058 a0075 a0078 a0083 a0084 a0086	a0003c0003 a0003c0004 a0009c0017 others(21): Show a0003c0003 a0003c0004 a0009c0017 a0009c0044 a0009c0046 a0010c0016 a0010c0043 a0010c0045 a0015c0019 a0015c0047 a0021c0018 a0023c0015 a0024c0014 a0027c0021 a0032c0051 a0039c0092 a0041c0060 a0043c0039 a0058c0049 a0075c0048 a0078c0052 a0083c0050 a0084c0058 a0086c0037	a0003c0003t0004 a0003c0004t0001 a0003c0004t0002 others(26): Show a0003c0003t0004 a0003c0004t0001 a0003c0004t0002 a0003c0004t0004 a0009c0017t0002 a0009c0017t0003 a0009c0044t0001 a0009c0046t0002 a0010c0016t0001 a0010c0043t0002 a0010c0045t0002 a0015c0019t0002 a0015c0047t0001 a0021c0018t0001 a0021c0018t0004 a0023c0015t0004 a0024c0014t0005 a0024c0014t0010 a0027c0021t0008 a0032c0051t0001 a0039c0092t0004 a0041c0060t0001 a0043c0039t0001 a0058c0049t0001 a0075c0048t0004 a0078c0052t0001 a0083c0050t0004 a0084c0058t0001 a0086c0037t0005	a0003c0003t0004g0028 a0003c0003t0004g0029 a0003c0003t0004g0034 others(34): Show a0003c0003t0004g0028 a0003c0003t0004g0029 a0003c0003t0004g0034 a0003c0003t0004g0036 a0003c0004t0001g0033 a0003c0004t0002g0032 a0003c0004t0002g0035 a0003c0004t0004g0030 a0009c0017t0002g0052 a0009c0017t0003g0068 a0009c0044t0001g0100 a0009c0046t0002g0090 a0010c0016t0001g0088 a0010c0016t0001g0117 a0010c0043t0002g0102 a0010c0045t0002g0076 a0015c0019t0002g0136 a0015c0019t0002g0175 a0015c0047t0001g0155 a0021c0018t0001g0109 a0021c0018t0004g0095 a0023c0015t0004g0173 a0023c0015t0004g0176 a0024c0014t0005g0119 a0024c0014t0010g0174 a0027c0021t0008g0048 a0027c0021t0008g0078 a0032c0051t0001g0026 a0039c0092t0004g0099 a0041c0060t0001g0091 a0043c0039t0001g0003 a0058c0049t0001g0086 a0075c0048t0004g0159 a0078c0052t0001g0101 a0083c0050t0004g0103 a0084c0058t0001g0092 a0086c0037t0005g0096	37	176	0.2102	c.501 others(4): Show c.5016G>A	p.Lys others(7): Show p.Lys1672Lys	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	17/62	5042/17188	5016/15177	1672/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48274733	A A	G G	synonymous_variant synonymous_variant	LOW	HG02723.hp2 HG06807.hp1 HG02723.hp2 HG06807.hp1	a0056 a0074 a0056 a0074	a0056c0035 a0074c0036 a0056c0035 a0074c0036	a0056c0035t0002 a0074c0036t0007 a0056c0035t0002 a0074c0036t0007	a0056c0035t0002g0157 a0074c0036t0007g0083 a0056c0035t0002g0157 a0074c0036t0007g0083	2	176	0.0114	c.506 others(4): Show c.5067A>G	p.Leu others(7): Show p.Leu1689Leu	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	17/62	5093/17188	5067/15177	1689/5058	chr7	TogoVar

Search by Variant

Search

Search Results