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
ABCA6_chr17_69073702_69146895	69133840	C C	G G	missense_variant missense_variant	MODERATE	NA19066.hp1 NA19066.hp1	a0023 a0023	a0023c0015 a0023c0015	a0023c0015t0001 a0023c0015t0001	a0023c0015t0001g0047 a0023c0015t0001g0047	1	324	0.0031	c.592 others(3): Show c.592G>C	p.Glu others(6): Show p.Glu198Gln	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	6/39	788/5321	592/4854	198/1617	chr17	TogoVar
ABCA6_chr17_69073702_69146895	69134707	T T	C C	missense_variant missense_variant	MODERATE	HG02895.hp2 HG02895.hp2	a0017 a0017	a0017c0030 a0017c0030	a0017c0030t0002 a0017c0030t0002	a0017c0030t0002g0129 a0017c0030t0002g0129	1	324	0.0031	c.496 others(3): Show c.496A>G	p.Thr others(6): Show p.Thr166Ala	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	5/39	692/5321	496/4854	166/1617	chr17	TogoVar
ABCA7_chr19_1035107_1070572	1042810	A A	G G	missense_variant missense_variant	MODERATE	HG00673.hp1 HG01071.hp2 HG02071.hp1 others(7): Show HG00673.hp1 HG01071.hp2 HG02071.hp1 HG02145.hp1 HG03688.hp1 HG03688.hp2 NA18970.hp1 NA18983.hp1 NA19066.hp1 NA20905.hp2	a0003 a0005 a0006 others(6): Show a0003 a0005 a0006 a0012 a0013 a0014 a0015 a0017 a0019	a0003c0004 a0005c0017 a0006c0019 others(6): Show a0003c0004 a0005c0017 a0006c0019 a0012c0018 a0013c0012 a0014c0015 a0015c0016 a0017c0014 a0019c0013	a0003c0004t0001 a0005c0017t0001 a0006c0019t0002 others(6): Show a0003c0004t0001 a0005c0017t0001 a0006c0019t0002 a0012c0018t0001 a0013c0012t0001 a0014c0015t0001 a0015c0016t0001 a0017c0014t0002 a0019c0013t0002	a0003c0004t0001g0021 a0003c0004t0001g0023 a0005c0017t0001g0027 others(7): Show a0003c0004t0001g0021 a0003c0004t0001g0023 a0005c0017t0001g0027 a0006c0019t0002g0029 a0012c0018t0001g0028 a0013c0012t0001g0026 a0014c0015t0001g0022 a0015c0016t0001g0024 a0017c0014t0002g0025 a0019c0013t0002g0030	10	28	0.3571	c.563 others(3): Show c.563A>G	p.Glu others(6): Show p.Glu188Gly	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	7/47	790/6815	563/6441	188/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1043104	G G	A A	missense_variant missense_variant	MODERATE	HG03688.hp2 HG03688.hp2	a0013 a0013	a0013c0012 a0013c0012	a0013c0012t0001 a0013c0012t0001	a0013c0012t0001g0026 a0013c0012t0001g0026	1	28	0.0357	c.643 others(3): Show c.643G>A	p.Gly others(6): Show p.Gly215Ser	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	8/47	870/6815	643/6441	215/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1043749	A A	G G	missense_variant missense_variant	MODERATE	HG02145.hp2 HG02451.hp1 HG02451.hp2 others(2): Show HG02145.hp2 HG02451.hp1 HG02451.hp2 HG02970.hp1 HG02970.hp2	a0004 a0007 a0008 others(1): Show a0004 a0007 a0008 a0011	a0004c0005 a0007c0021 a0008c0022 others(1): Show a0004c0005 a0007c0021 a0008c0022 a0011c0020	a0004c0005t0002 a0007c0021t0001 a0008c0022t0001 others(1): Show a0004c0005t0002 a0007c0021t0001 a0008c0022t0001 a0011c0020t0002	a0004c0005t0002g0002 a0004c0005t0002g0003 a0007c0021t0001g0001 others(2): Show a0004c0005t0002g0002 a0004c0005t0002g0003 a0007c0021t0001g0001 a0008c0022t0001g0004 a0011c0020t0002g0020	5	28	0.1786	c.955 others(3): Show c.955A>G	p.Thr others(6): Show p.Thr319Ala	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	10/47	1182/6815	955/6441	319/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1044713	A A	G G	missense_variant missense_variant	MODERATE	HG02145.hp2 HG02451.hp1 HG02451.hp2 others(2): Show HG02145.hp2 HG02451.hp1 HG02451.hp2 HG02970.hp1 HG02970.hp2	a0004 a0007 a0008 others(1): Show a0004 a0007 a0008 a0011	a0004c0005 a0007c0021 a0008c0022 others(1): Show a0004c0005 a0007c0021 a0008c0022 a0011c0020	a0004c0005t0002 a0007c0021t0001 a0008c0022t0001 others(1): Show a0004c0005t0002 a0007c0021t0001 a0008c0022t0001 a0011c0020t0002	a0004c0005t0002g0002 a0004c0005t0002g0003 a0007c0021t0001g0001 others(2): Show a0004c0005t0002g0002 a0004c0005t0002g0003 a0007c0021t0001g0001 a0008c0022t0001g0004 a0011c0020t0002g0020	5	28	0.1786	c.118 others(4): Show c.1184A>G	p.His others(6): Show p.His395Arg	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	11/47	1411/6815	1184/6441	395/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1045027	C C	G G	missense_variant missense_variant	MODERATE	HG02145.hp2 HG02451.hp1 HG02970.hp1 HG02145.hp2 HG02451.hp1 HG02970.hp1	a0004 a0007 a0004 a0007	a0004c0005 a0007c0021 a0004c0005 a0007c0021	a0004c0005t0002 a0007c0021t0001 a0004c0005t0002 a0007c0021t0001	a0004c0005t0002g0002 a0004c0005t0002g0003 a0007c0021t0001g0001 a0004c0005t0002g0002 a0004c0005t0002g0003 a0007c0021t0001g0001	3	28	0.1071	c.124 others(4): Show c.1241C>G	p.Ala others(6): Show p.Ala414Gly	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	12/47	1468/6815	1241/6441	414/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1045174	G G	A A	missense_variant missense_variant	MODERATE	NA18983.hp2 NA19079.hp2 NA18983.hp2 NA19079.hp2	a0016 a0018 a0016 a0018	a0016c0006 a0018c0007 a0016c0006 a0018c0007	a0016c0006t0002 a0018c0007t0002 a0016c0006t0002 a0018c0007t0002	a0016c0006t0002g0006 a0018c0007t0002g0005 a0016c0006t0002g0006 a0018c0007t0002g0005	2	28	0.0714	c.138 others(4): Show c.1388G>A	p.Arg others(6): Show p.Arg463His	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	12/47	1615/6815	1388/6441	463/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1046405	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02451.hp2 HG02451.hp2	a0008 a0008	a0008c0022 a0008c0022	a0008c0022t0001 a0008c0022t0001	a0008c0022t0001g0004 a0008c0022t0001g0004	1	28	0.0357	c.162 others(4): Show c.1621G>A	p.Val others(6): Show p.Val541Met	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	13/47	1848/6815	1621/6441	541/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1047538	A A	C C	missense_variant missense_variant	MODERATE	NA18983.hp2 NA19079.hp2 NA18983.hp2 NA19079.hp2	a0016 a0018 a0016 a0018	a0016c0006 a0018c0007 a0016c0006 a0018c0007	a0016c0006t0002 a0018c0007t0002 a0016c0006t0002 a0018c0007t0002	a0016c0006t0002g0006 a0018c0007t0002g0005 a0016c0006t0002g0006 a0018c0007t0002g0005	2	28	0.0714	c.215 others(4): Show c.2153A>C	p.Asn others(6): Show p.Asn718Thr	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	16/47	2380/6815	2153/6441	718/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1049394	A A	C C	missense_variant missense_variant	MODERATE	NA18983.hp1 NA18983.hp1	a0015 a0015	a0015c0016 a0015c0016	a0015c0016t0001 a0015c0016t0001	a0015c0016t0001g0024 a0015c0016t0001g0024	1	27	0.0370	c.250 others(4): Show c.2509A>C	p.Thr others(6): Show p.Thr837Pro	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	18/47	2736/6815	2509/6441	837/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1049397	G G	A A	missense_variant missense_variant	MODERATE	NA18970.hp1 NA18970.hp1	a0014 a0014	a0014c0015 a0014c0015	a0014c0015t0001 a0014c0015t0001	a0014c0015t0001g0022 a0014c0015t0001g0022	1	28	0.0357	c.251 others(4): Show c.2512G>A	p.Ala others(6): Show p.Ala838Thr	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	18/47	2739/6815	2512/6441	838/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1050997	G G	A A	missense_variant missense_variant	MODERATE	HG01071.hp2 HG01071.hp2	a0005 a0005	a0005c0017 a0005c0017	a0005c0017t0001 a0005c0017t0001	a0005c0017t0001g0027 a0005c0017t0001g0027	1	28	0.0357	c.262 others(4): Show c.2629G>A	p.Ala others(6): Show p.Ala877Thr	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	19/47	2856/6815	2629/6441	877/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1051487	G G	T T	missense_variant missense_variant	MODERATE	HG02723.hp1 HG02723.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0013 a0009c0010t0001g0013	1	28	0.0357	c.286 others(4): Show c.2863G>T	p.Val others(6): Show p.Val955Leu	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	21/47	3090/6815	2863/6441	955/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1051488	T T	G G	missense_variant missense_variant	MODERATE	HG02723.hp1 HG02723.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0013 a0009c0010t0001g0013	1	28	0.0357	c.286 others(4): Show c.2864T>G	p.Val others(6): Show p.Val955Gly	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	21/47	3091/6815	2864/6441	955/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1055192	G G	A A	missense_variant missense_variant	MODERATE	HG00673.hp1 HG02145.hp1 HG02451.hp1 others(6): Show HG00673.hp1 HG02145.hp1 HG02451.hp1 NA18970.hp1 NA18983.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0002 a0003 a0007 others(3): Show a0002 a0003 a0007 a0014 a0015 a0019	a0002c0003 a0002c0009 a0003c0004 others(4): Show a0002c0003 a0002c0009 a0003c0004 a0007c0021 a0014c0015 a0015c0016 a0019c0013	a0002c0003t0001 a0002c0009t0001 a0003c0004t0001 others(4): Show a0002c0003t0001 a0002c0009t0001 a0003c0004t0001 a0007c0021t0001 a0014c0015t0001 a0015c0016t0001 a0019c0013t0002	a0002c0003t0001g0007 a0002c0003t0001g0009 a0002c0009t0001g0008 others(6): Show a0002c0003t0001g0007 a0002c0003t0001g0009 a0002c0009t0001g0008 a0003c0004t0001g0021 a0003c0004t0001g0023 a0007c0021t0001g0001 a0014c0015t0001g0022 a0015c0016t0001g0024 a0019c0013t0002g0030	9	28	0.3214	c.404 others(4): Show c.4046G>A	p.Arg others(7): Show p.Arg1349Gln	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	30/47	4273/6815	4046/6441	1349/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1056493	G G	C C	missense_variant missense_variant	MODERATE	HG00673.hp1 HG01071.hp2 HG02071.hp1 others(18): Show HG00673.hp1 HG01071.hp2 HG02071.hp1 HG02145.hp1 HG02145.hp2 HG02451.hp1 HG02451.hp2 HG02723.hp1 HG02723.hp2 HG02970.hp1 HG02970.hp2 HG03688.hp1 HG03688.hp2 NA18970.hp1 NA18983.hp1 NA18983.hp2 NA19066.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0002 a0003 a0004 others(14): Show a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0019	a0002c0003 a0002c0009 a0003c0004 others(15): Show a0002c0003 a0002c0009 a0003c0004 a0004c0005 a0005c0017 a0006c0019 a0007c0021 a0008c0022 a0009c0010 a0010c0008 a0011c0020 a0012c0018 a0013c0012 a0014c0015 a0015c0016 a0016c0006 a0017c0014 a0019c0013	a0002c0003t0001 a0002c0009t0001 a0003c0004t0001 others(15): Show a0002c0003t0001 a0002c0009t0001 a0003c0004t0001 a0004c0005t0002 a0005c0017t0001 a0006c0019t0002 a0007c0021t0001 a0008c0022t0001 a0009c0010t0001 a0010c0008t0002 a0011c0020t0002 a0012c0018t0001 a0013c0012t0001 a0014c0015t0001 a0015c0016t0001 a0016c0006t0002 a0017c0014t0002 a0019c0013t0002	a0002c0003t0001g0007 a0002c0003t0001g0009 a0002c0009t0001g0008 others(18): Show a0002c0003t0001g0007 a0002c0003t0001g0009 a0002c0009t0001g0008 a0003c0004t0001g0021 a0003c0004t0001g0023 a0004c0005t0002g0002 a0004c0005t0002g0003 a0005c0017t0001g0027 a0006c0019t0002g0029 a0007c0021t0001g0001 a0008c0022t0001g0004 a0009c0010t0001g0013 a0010c0008t0002g0014 a0011c0020t0002g0020 a0012c0018t0001g0028 a0013c0012t0001g0026 a0014c0015t0001g0022 a0015c0016t0001g0024 a0016c0006t0002g0006 a0017c0014t0002g0025 a0019c0013t0002g0030	21	28	0.7500	c.458 others(4): Show c.4580G>C	p.Gly others(7): Show p.Gly1527Ala	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	33/47	4807/6815	4580/6441	1527/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1058177	A A	G G	missense_variant missense_variant	MODERATE	NA18983.hp2 NA19066.hp1 NA18983.hp2 NA19066.hp1	a0016 a0017 a0016 a0017	a0016c0006 a0017c0014 a0016c0006 a0017c0014	a0016c0006t0002 a0017c0014t0002 a0016c0006t0002 a0017c0014t0002	a0016c0006t0002g0006 a0017c0014t0002g0025 a0016c0006t0002g0006 a0017c0014t0002g0025	2	28	0.0714	c.505 others(4): Show c.5057A>G	p.Gln others(7): Show p.Gln1686Arg	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	37/47	5284/6815	5057/6441	1686/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1058860	G G	A A	missense_variant missense_variant	MODERATE	NA19079.hp2 NA19079.hp2	a0018 a0018	a0018c0007 a0018c0007	a0018c0007t0002 a0018c0007t0002	a0018c0007t0002g0005 a0018c0007t0002g0005	1	28	0.0357	c.532 others(4): Show c.5320G>A	p.Glu others(7): Show p.Glu1774Lys	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	39/47	5547/6815	5320/6441	1774/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1065019	G G	T T	missense_variant missense_variant	MODERATE	HG00673.hp1 HG01071.hp2 HG02145.hp1 others(10): Show HG00673.hp1 HG01071.hp2 HG02145.hp1 HG02451.hp1 HG02451.hp2 HG02723.hp1 HG03688.hp1 HG03688.hp2 NA18970.hp1 NA18983.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1	a0002 a0003 a0005 others(7): Show a0002 a0003 a0005 a0007 a0008 a0009 a0012 a0013 a0014 a0015	a0002c0003 a0002c0009 a0003c0004 others(8): Show a0002c0003 a0002c0009 a0003c0004 a0005c0017 a0007c0021 a0008c0022 a0009c0010 a0012c0018 a0013c0012 a0014c0015 a0015c0016	a0002c0003t0001 a0002c0009t0001 a0003c0004t0001 others(8): Show a0002c0003t0001 a0002c0009t0001 a0003c0004t0001 a0005c0017t0001 a0007c0021t0001 a0008c0022t0001 a0009c0010t0001 a0012c0018t0001 a0013c0012t0001 a0014c0015t0001 a0015c0016t0001	a0002c0003t0001g0007 a0002c0003t0001g0009 a0002c0009t0001g0008 others(10): Show a0002c0003t0001g0007 a0002c0003t0001g0009 a0002c0009t0001g0008 a0003c0004t0001g0021 a0003c0004t0001g0023 a0005c0017t0001g0027 a0007c0021t0001g0001 a0008c0022t0001g0004 a0009c0010t0001g0013 a0012c0018t0001g0028 a0013c0012t0001g0026 a0014c0015t0001g0022 a0015c0016t0001g0024	13	28	0.4643	c.613 others(4): Show c.6133G>T	p.Ala others(7): Show p.Ala2045Ser	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	46/47	6360/6815	6133/6441	2045/2146	chr19	TogoVar
ABCA8_chr17_68862289_68960392	68868095	T T	G G	missense_variant missense_variant	MODERATE	NA18971.hp1 NA18971.hp1	a0027 a0027	a0027c0047 a0027c0047	a0027c0047t0001 a0027c0047t0001	a0027c0047t0001g0011 a0027c0047t0001g0011	1	272	0.0037	c.485 others(4): Show c.4856A>C	p.Glu others(7): Show p.Glu1619Ala	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	40/40	5196/6002	4856/4866	1619/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68868097	C C	G G	missense_variant missense_variant	MODERATE	HG02970.hp2 HG02970.hp2	a0021 a0021	a0021c0024 a0021c0024	a0021c0024t0001 a0021c0024t0001	a0021c0024t0001g0021 a0021c0024t0001g0021	1	272	0.0037	c.485 others(4): Show c.4854G>C	p.Gln others(7): Show p.Gln1618His	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	40/40	5194/6002	4854/4866	1618/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68875343	C C	G G	missense_variant missense_variant	MODERATE	HG02647.hp1 HG02647.hp1	a0019 a0019	a0019c0028 a0019c0028	a0019c0028t0001 a0019c0028t0001	a0019c0028t0001g0112 a0019c0028t0001g0112	1	272	0.0037	c.454 others(4): Show c.4548G>C	p.Glu others(7): Show p.Glu1516Asp	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	37/40	4888/6002	4548/4866	1516/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68875696	C C	T T	missense_variant missense_variant	MODERATE	HG01069.hp1 HG01071.hp2 HG01106.hp1 others(20): Show HG01069.hp1 HG01071.hp2 HG01106.hp1 HG01884.hp1 HG02040.hp2 HG02071.hp2 HG02109.hp1 HG02451.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02809.hp2 HG02922.hp1 HG02976.hp2 HG03225.hp2 HG03579.hp2 NA18960.hp2 NA18980.hp1 NA18991.hp1 NA19010.hp2 NA19030.hp1 NA19081.hp2 NA21309.hp1	a0002 a0005 a0017 others(3): Show a0002 a0005 a0017 a0018 a0022 a0029	a0002c0006 a0002c0022 a0002c0034 others(7): Show a0002c0006 a0002c0022 a0002c0034 a0002c0046 a0002c0053 a0005c0009 a0017c0055 a0018c0057 a0022c0051 a0029c0043	a0002c0006t0001 a0002c0022t0001 a0002c0034t0001 others(7): Show a0002c0006t0001 a0002c0022t0001 a0002c0034t0001 a0002c0046t0001 a0002c0053t0001 a0005c0009t0001 a0017c0055t0001 a0018c0057t0004 a0022c0051t0004 a0029c0043t0001	a0002c0006t0001g0001 a0002c0006t0001g0095 a0002c0006t0001g0160 others(18): Show a0002c0006t0001g0001 a0002c0006t0001g0095 a0002c0006t0001g0160 a0002c0006t0001g0164 a0002c0006t0001g0165 a0002c0006t0001g0201 a0002c0006t0001g0202 a0002c0006t0001g0237 a0002c0022t0001g0135 a0002c0034t0001g0007 a0002c0046t0001g0052 a0002c0053t0001g0050 a0005c0009t0001g0002 a0005c0009t0001g0105 a0005c0009t0001g0109 a0005c0009t0001g0111 a0005c0009t0001g0115 a0017c0055t0001g0130 a0018c0057t0004g0133 a0022c0051t0004g0121 a0029c0043t0001g0261	23	272	0.0846	c.440 others(4): Show c.4408G>A	p.Gly others(7): Show p.Gly1470Ser	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	36/40	4748/6002	4408/4866	1470/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68877568	C C	T T	missense_variant missense_variant	MODERATE	HG02145.hp2 NA20129.hp2 HG02145.hp2 NA20129.hp2	a0014 a0032 a0014 a0032	a0014c0027 a0032c0021 a0014c0027 a0032c0021	a0014c0027t0001 a0032c0021t0001 a0014c0027t0001 a0032c0021t0001	a0014c0027t0001g0107 a0032c0021t0001g0140 a0014c0027t0001g0107 a0032c0021t0001g0140	2	272	0.0074	c.415 others(4): Show c.4150G>A	p.Ala others(7): Show p.Ala1384Thr	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	33/40	4490/6002	4150/4866	1384/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68883824	C C	T T	missense_variant missense_variant	MODERATE	NA18906.hp1 NA18906.hp1	a0023 a0023	a0023c0020 a0023c0020	a0023c0020t0001 a0023c0020t0001	a0023c0020t0001g0144 a0023c0020t0001g0144	1	272	0.0037	c.367 others(4): Show c.3674G>A	p.Gly others(7): Show p.Gly1225Glu	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	29/40	4014/6002	3674/4866	1225/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68885315	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02809.hp1 HG02809.hp1	a0020 a0020	a0020c0056 a0020c0056	a0020c0056t0001 a0020c0056t0001	a0020c0056t0001g0134 a0020c0056t0001g0134	1	272	0.0037	c.343 others(4): Show c.3430G>A	p.Val others(7): Show p.Val1144Ile	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	27/40	3770/6002	3430/4866	1144/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68887031	A A	C C	missense_variant missense_variant	MODERATE	HG02109.hp2 HG02109.hp2	a0013 a0013	a0013c0045 a0013c0045	a0013c0045t0001 a0013c0045t0001	a0013c0045t0001g0272 a0013c0045t0001g0272	1	272	0.0037	c.341 others(4): Show c.3415T>G	p.Phe others(7): Show p.Phe1139Val	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	26/40	3755/6002	3415/4866	1139/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68894198	C C	T T	missense_variant missense_variant	MODERATE	HG02572.hp1 HG02572.hp1	a0017 a0017	a0017c0055 a0017c0055	a0017c0055t0001 a0017c0055t0001	a0017c0055t0001g0130 a0017c0055t0001g0130	1	272	0.0037	c.301 others(4): Show c.3011G>A	p.Arg others(7): Show p.Arg1004Gln	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	23/40	3351/6002	3011/4866	1004/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68894282	G G	T T	missense_variant missense_variant	MODERATE	NA18980.hp1 NA18980.hp1	a0029 a0029	a0029c0043 a0029c0043	a0029c0043t0001 a0029c0043t0001	a0029c0043t0001g0261 a0029c0043t0001g0261	1	272	0.0037	c.292 others(4): Show c.2927C>A	p.Ala others(6): Show p.Ala976Asp	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	23/40	3267/6002	2927/4866	976/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68894921	G G	C C	missense_variant missense_variant	MODERATE	NA18960.hp1 NA18960.hp1	a0025 a0025	a0025c0036 a0025c0036	a0025c0036t0001 a0025c0036t0001	a0025c0036t0001g0157 a0025c0036t0001g0157	1	272	0.0037	c.285 others(4): Show c.2857C>G	p.Pro others(6): Show p.Pro953Ala	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	22/40	3197/6002	2857/4866	953/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68903330	T T	G G	missense_variant missense_variant	MODERATE	NA19043.hp1 NA19043.hp1	a0030 a0030	a0030c0049 a0030c0049	a0030c0049t0001 a0030c0049t0001	a0030c0049t0001g0094 a0030c0049t0001g0094	1	272	0.0037	c.256 others(4): Show c.2568A>C	p.Leu others(6): Show p.Leu856Phe	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	20/40	2908/6002	2568/4866	856/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68907761	C C	G G	missense_variant missense_variant	MODERATE	NA18969.hp2 NA18982.hp1 NA18969.hp2 NA18982.hp1	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0001 a0011c0013t0001	a0011c0013t0001g0039 a0011c0013t0001g0093 a0011c0013t0001g0039 a0011c0013t0001g0093	2	272	0.0074	c.225 others(4): Show c.2257G>C	p.Glu others(6): Show p.Glu753Gln	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	18/40	2597/6002	2257/4866	753/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68907857	C C	T T	missense_variant missense_variant	MODERATE	NA19091.hp2 NA19091.hp2	a0031 a0031	a0031c0041 a0031c0041	a0031c0041t0001 a0031c0041t0001	a0031c0041t0001g0009 a0031c0041t0001g0009	1	272	0.0037	c.216 others(4): Show c.2161G>A	p.Val others(6): Show p.Val721Ile	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	18/40	2501/6002	2161/4866	721/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68907860	A A	C C	missense_variant missense_variant	MODERATE	HG02129.hp1 HG02129.hp2 HG02135.hp1 others(6): Show HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02165.hp2 NA18952.hp2 NA18959.hp1 NA18965.hp2 NA19056.hp2 NA19065.hp1	a0004 a0004	a0004c0007 a0004c0033 a0004c0007 a0004c0033	a0004c0007t0001 a0004c0033t0001 a0004c0007t0001 a0004c0033t0001	a0004c0007t0001g0058 a0004c0007t0001g0162 a0004c0007t0001g0188 others(6): Show a0004c0007t0001g0058 a0004c0007t0001g0162 a0004c0007t0001g0188 a0004c0007t0001g0247 a0004c0007t0001g0257 a0004c0007t0001g0263 a0004c0007t0001g0265 a0004c0007t0001g0266 a0004c0033t0001g0061	9	272	0.0331	c.215 others(4): Show c.2158T>G	p.Cys others(6): Show p.Cys720Gly	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	18/40	2498/6002	2158/4866	720/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68918079	G G	C C	missense_variant missense_variant	MODERATE	HG02976.hp2 HG02976.hp2	a0022 a0022	a0022c0051 a0022c0051	a0022c0051t0004 a0022c0051t0004	a0022c0051t0004g0121 a0022c0051t0004g0121	1	272	0.0037	c.201 others(4): Show c.2015C>G	p.Thr others(6): Show p.Thr672Ser	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	16/40	2355/6002	2015/4866	672/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68924734	G G	A A	missense_variant missense_variant	MODERATE	NA18973.hp2 NA18973.hp2	a0028 a0028	a0028c0037 a0028c0037	a0028c0037t0001 a0028c0037t0001	a0028c0037t0001g0158 a0028c0037t0001g0158	1	272	0.0037	c.140 others(4): Show c.1409C>T	p.Ala others(6): Show p.Ala470Val	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	11/40	1749/6002	1409/4866	470/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68927933	A A	G G	missense_variant missense_variant	MODERATE	HG00733.hp2 HG02622.hp1 HG02896.hp1 others(3): Show HG00733.hp2 HG02622.hp1 HG02896.hp1 HG02970.hp1 HG03130.hp1 HG03516.hp1	a0007 a0008 a0007 a0008	a0007c0019 a0007c0039 a0007c0040 others(3): Show a0007c0019 a0007c0039 a0007c0040 a0008c0025 a0008c0031 a0008c0032	a0007c0019t0001 a0007c0039t0001 a0007c0040t0001 others(3): Show a0007c0019t0001 a0007c0039t0001 a0007c0040t0001 a0008c0025t0001 a0008c0031t0001 a0008c0032t0005	a0007c0019t0001g0155 a0007c0039t0001g0153 a0007c0040t0001g0120 others(3): Show a0007c0019t0001g0155 a0007c0039t0001g0153 a0007c0040t0001g0120 a0008c0025t0001g0103 a0008c0031t0001g0096 a0008c0032t0005g0097	6	272	0.0221	c.125 others(4): Show c.1256T>C	p.Phe others(6): Show p.Phe419Ser	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	10/40	1596/6002	1256/4866	419/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68927942	G G	A A	missense_variant missense_variant	MODERATE	HG00323.hp2 HG01346.hp2 HG03491.hp2 others(1): Show HG00323.hp2 HG01346.hp2 HG03491.hp2 NA20805.hp1	a0006 a0006	a0006c0014 a0006c0038 a0006c0052 a0006c0014 a0006c0038 a0006c0052	a0006c0014t0001 a0006c0038t0001 a0006c0052t0001 a0006c0014t0001 a0006c0038t0001 a0006c0052t0001	a0006c0014t0001g0055 a0006c0014t0001g0085 a0006c0038t0001g0099 others(1): Show a0006c0014t0001g0055 a0006c0014t0001g0085 a0006c0038t0001g0099 a0006c0052t0001g0204	4	272	0.0147	c.124 others(4): Show c.1247C>T	p.Ala others(6): Show p.Ala416Val	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	10/40	1587/6002	1247/4866	416/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68932304	G G	A A	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00140.hp1	a0012 a0012	a0012c0054 a0012c0054	a0012c0054t0001 a0012c0054t0001	a0012c0054t0001g0225 a0012c0054t0001g0225	1	272	0.0037	c.781 others(3): Show c.781C>T	p.Arg others(6): Show p.Arg261Trp	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	7/40	1121/6002	781/4866	261/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68932319	T T	C C	missense_variant missense_variant	MODERATE	HG01346.hp1 HG01884.hp1 HG02055.hp1 others(18): Show HG01346.hp1 HG01884.hp1 HG02055.hp1 HG02145.hp2 HG02258.hp1 HG02451.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02809.hp2 HG02818.hp2 HG02970.hp1 HG03041.hp1 HG03130.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03579.hp2 HG06807.hp2 NA18522.hp1	a0003 a0005 a0008 others(3): Show a0003 a0005 a0008 a0014 a0015 a0019	a0003c0008 a0003c0026 a0003c0029 others(7): Show a0003c0008 a0003c0026 a0003c0029 a0005c0009 a0008c0025 a0008c0031 a0008c0032 a0014c0027 a0015c0030 a0019c0028	a0003c0008t0001 a0003c0008t0005 a0003c0026t0001 others(8): Show a0003c0008t0001 a0003c0008t0005 a0003c0026t0001 a0003c0029t0001 a0005c0009t0001 a0008c0025t0001 a0008c0031t0001 a0008c0032t0005 a0014c0027t0001 a0015c0030t0001 a0019c0028t0001	a0003c0008t0001g0108 a0003c0008t0001g0110 a0003c0008t0001g0113 others(17): Show a0003c0008t0001g0108 a0003c0008t0001g0110 a0003c0008t0001g0113 a0003c0008t0001g0124 a0003c0008t0001g0125 a0003c0008t0001g0151 a0003c0008t0005g0152 a0003c0026t0001g0114 a0003c0029t0001g0106 a0005c0009t0001g0002 a0005c0009t0001g0105 a0005c0009t0001g0109 a0005c0009t0001g0111 a0005c0009t0001g0115 a0008c0025t0001g0103 a0008c0031t0001g0096 a0008c0032t0005g0097 a0014c0027t0001g0107 a0015c0030t0001g0104 a0019c0028t0001g0112	21	272	0.0772	c.766 others(3): Show c.766A>G	p.Thr others(6): Show p.Thr256Ala	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	7/40	1106/6002	766/4866	256/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68932327	G G	C C	missense_variant missense_variant	MODERATE	HG01346.hp1 HG01884.hp1 HG02055.hp1 others(18): Show HG01346.hp1 HG01884.hp1 HG02055.hp1 HG02145.hp2 HG02258.hp1 HG02451.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02809.hp2 HG02818.hp2 HG02970.hp1 HG03041.hp1 HG03130.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03579.hp2 HG06807.hp2 NA18522.hp1	a0003 a0005 a0008 others(3): Show a0003 a0005 a0008 a0014 a0015 a0019	a0003c0008 a0003c0026 a0003c0029 others(7): Show a0003c0008 a0003c0026 a0003c0029 a0005c0009 a0008c0025 a0008c0031 a0008c0032 a0014c0027 a0015c0030 a0019c0028	a0003c0008t0001 a0003c0008t0005 a0003c0026t0001 others(8): Show a0003c0008t0001 a0003c0008t0005 a0003c0026t0001 a0003c0029t0001 a0005c0009t0001 a0008c0025t0001 a0008c0031t0001 a0008c0032t0005 a0014c0027t0001 a0015c0030t0001 a0019c0028t0001	a0003c0008t0001g0108 a0003c0008t0001g0110 a0003c0008t0001g0113 others(17): Show a0003c0008t0001g0108 a0003c0008t0001g0110 a0003c0008t0001g0113 a0003c0008t0001g0124 a0003c0008t0001g0125 a0003c0008t0001g0151 a0003c0008t0005g0152 a0003c0026t0001g0114 a0003c0029t0001g0106 a0005c0009t0001g0002 a0005c0009t0001g0105 a0005c0009t0001g0109 a0005c0009t0001g0111 a0005c0009t0001g0115 a0008c0025t0001g0103 a0008c0031t0001g0096 a0008c0032t0005g0097 a0014c0027t0001g0107 a0015c0030t0001g0104 a0019c0028t0001g0112	21	272	0.0772	c.758 others(3): Show c.758C>G	p.Ala others(6): Show p.Ala253Gly	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	7/40	1098/6002	758/4866	253/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68932332	C C	T T	missense_variant missense_variant	MODERATE	HG02559.hp2 HG02965.hp2 HG02970.hp2 HG02559.hp2 HG02965.hp2 HG02970.hp2	a0010 a0021 a0010 a0021	a0010c0012 a0021c0024 a0010c0012 a0021c0024	a0010c0012t0001 a0021c0024t0001 a0010c0012t0001 a0021c0024t0001	a0010c0012t0001g0019 a0010c0012t0001g0020 a0021c0024t0001g0021 a0010c0012t0001g0019 a0010c0012t0001g0020 a0021c0024t0001g0021	3	272	0.0110	c.753 others(3): Show c.753G>A	p.Met others(6): Show p.Met251Ile	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	7/40	1093/6002	753/4866	251/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68933226	A A	T T	missense_variant missense_variant	MODERATE	NA18968.hp1 NA18968.hp1	a0026 a0026	a0026c0018 a0026c0018	a0026c0018t0001 a0026c0018t0001	a0026c0018t0001g0234 a0026c0018t0001g0234	1	272	0.0037	c.512 others(3): Show c.512T>A	p.Val others(6): Show p.Val171Glu	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	6/40	852/6002	512/4866	171/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68940889	G G	T T	missense_variant missense_variant	MODERATE	NA18946.hp2 NA18946.hp2	a0024 a0024	a0024c0016 a0024c0016	a0024c0016t0001 a0024c0016t0001	a0024c0016t0001g0063 a0024c0016t0001g0063	1	272	0.0037	c.170 others(3): Show c.170C>A	p.Ser others(5): Show p.Ser57Tyr	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	4/40	510/6002	170/4866	57/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68941957	C C	T T	missense_variant missense_variant	MODERATE	HG02486.hp1 HG02486.hp1	a0016 a0016	a0016c0015 a0016c0015	a0016c0015t0001 a0016c0015t0001	a0016c0015t0001g0013 a0016c0015t0001g0013	1	272	0.0037	c.78G others(2): Show c.78G>A	p.Met others(5): Show p.Met26Ile	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	3/40	418/6002	78/4866	26/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68942000	G G	C C	missense_variant missense_variant	MODERATE	HG02572.hp1 HG02622.hp2 HG02809.hp1 others(3): Show HG02572.hp1 HG02622.hp2 HG02809.hp1 HG02965.hp1 HG03139.hp1 HG03225.hp1	a0009 a0017 a0018 others(1): Show a0009 a0017 a0018 a0020	a0009c0010 a0017c0055 a0018c0057 others(1): Show a0009c0010 a0017c0055 a0018c0057 a0020c0056	a0009c0010t0001 a0017c0055t0001 a0018c0057t0004 others(1): Show a0009c0010t0001 a0017c0055t0001 a0018c0057t0004 a0020c0056t0001	a0009c0010t0001g0122 a0009c0010t0001g0131 a0009c0010t0001g0132 others(3): Show a0009c0010t0001g0122 a0009c0010t0001g0131 a0009c0010t0001g0132 a0017c0055t0001g0130 a0018c0057t0004g0133 a0020c0056t0001g0134	6	272	0.0221	c.35C others(2): Show c.35C>G	p.Thr others(5): Show p.Thr12Ser	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	3/40	375/6002	35/4866	12/1621	chr17	TogoVar
ABCA9_chr17_68969488_69065927	68986306	C C	T T	missense_variant missense_variant	MODERATE	HG01109.hp2 HG01346.hp1 HG02145.hp1 others(18): Show HG01109.hp2 HG01346.hp1 HG02145.hp1 HG02451.hp2 HG02559.hp2 HG02630.hp1 HG02647.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02922.hp2 HG02970.hp1 HG03098.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03579.hp2 HG06807.hp2 NA20300.hp2	a0004 a0011 a0016 others(1): Show a0004 a0011 a0016 a0017	a0004c0005 a0011c0014 a0016c0017 others(1): Show a0004c0005 a0011c0014 a0016c0017 a0017c0018	a0004c0005t0003 a0011c0014t0003 a0016c0017t0003 others(1): Show a0004c0005t0003 a0011c0014t0003 a0016c0017t0003 a0017c0018t0014	a0004c0005t0003g0001 a0004c0005t0003g0263 a0004c0005t0003g0264 others(14): Show a0004c0005t0003g0001 a0004c0005t0003g0263 a0004c0005t0003g0264 a0004c0005t0003g0265 a0004c0005t0003g0266 a0004c0005t0003g0267 a0004c0005t0003g0269 a0004c0005t0003g0280 a0004c0005t0003g0281 a0004c0005t0003g0282 a0004c0005t0003g0283 a0004c0005t0003g0284 a0004c0005t0003g0285 a0004c0005t0003g0286 a0011c0014t0003g0051 a0016c0017t0003g0184 a0017c0018t0014g0291	21	310	0.0677	c.406 others(4): Show c.4066G>A	p.Gly others(7): Show p.Gly1356Ser	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	32/39	4141/6377	4066/4875	1356/1624	chr17	TogoVar
ABCA9_chr17_68969488_69065927	68989851	T T	G G	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(114): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00639.hp1 HG00642.hp1 HG00733.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01346.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG02004.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02602.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02970.hp2 HG03130.hp2 HG03139.hp2 HG03490.hp2 HG03491.hp2 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03704.hp2 HG03927.hp1 HG03942.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18939.hp1 NA18946.hp2 NA18949.hp1 NA18953.hp2 NA18954.hp1 NA18957.hp1 NA18962.hp2 NA18965.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18985.hp2 NA18986.hp2 NA18987.hp2 NA18990.hp1 NA18992.hp1 NA18993.hp2 NA19002.hp1 NA19004.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19054.hp2 NA19056.hp1 NA19058.hp2 NA19060.hp1 NA19065.hp1 NA19067.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19075.hp2 NA19080.hp1 NA19082.hp1 NA19083.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA21309.hp2	a0002 a0007 a0012 others(4): Show a0002 a0007 a0012 a0015 a0020 a0022 a0023	a0002c0002 a0002c0004 a0002c0026 others(8): Show a0002c0002 a0002c0004 a0002c0026 a0002c0027 a0002c0028 a0007c0010 a0012c0016 a0015c0024 a0020c0030 a0022c0025 a0023c0031	a0002c0002t0002 a0002c0002t0007 a0002c0004t0002 others(9): Show a0002c0002t0002 a0002c0002t0007 a0002c0004t0002 a0002c0026t0002 a0002c0027t0002 a0002c0028t0002 a0007c0010t0002 a0012c0016t0002 a0015c0024t0002 a0020c0030t0002 a0022c0025t0002 a0023c0031t0002	a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0004 others(106): Show a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0016 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0070 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0080 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0114 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0136 a0002c0002t0002g0138 a0002c0002t0002g0139 a0002c0002t0002g0142 a0002c0002t0002g0143 a0002c0002t0002g0145 a0002c0002t0002g0146 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0155 a0002c0002t0002g0219 a0002c0002t0002g0228 a0002c0002t0002g0255 a0002c0002t0007g0128 a0002c0002t0007g0129 a0002c0004t0002g0083 a0002c0004t0002g0106 a0002c0004t0002g0107 a0002c0004t0002g0108 a0002c0004t0002g0109 a0002c0004t0002g0110 a0002c0004t0002g0111 a0002c0004t0002g0135 a0002c0004t0002g0144 a0002c0004t0002g0151 a0002c0004t0002g0152 a0002c0004t0002g0178 a0002c0004t0002g0179 a0002c0004t0002g0192 a0002c0004t0002g0207 a0002c0004t0002g0242 a0002c0004t0002g0257 a0002c0004t0002g0260 a0002c0004t0002g0262 a0002c0026t0002g0071 a0002c0027t0002g0069 a0002c0028t0002g0079 a0007c0010t0002g0081 a0007c0010t0002g0118 a0007c0010t0002g0140 a0007c0010t0002g0141 a0007c0010t0002g0150 a0012c0016t0002g0053 a0015c0024t0002g0063 a0020c0030t0002g0200 a0022c0025t0002g0059 a0023c0031t0002g0231	117	310	0.3774	c.391 others(4): Show c.3917A>C	p.Lys others(7): Show p.Lys1306Thr	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	30/39	3992/6377	3917/4875	1306/1624	chr17	TogoVar
ABCA9_chr17_68969488_69065927	68989875	T T	C C	missense_variant missense_variant	MODERATE	HG03516.hp2 HG03516.hp2	a0019 a0019	a0019c0023 a0019c0023	a0019c0023t0003 a0019c0023t0003	a0019c0023t0003g0018 a0019c0023t0003g0018	1	310	0.0032	c.389 others(4): Show c.3893A>G	p.Asn others(7): Show p.Asn1298Ser	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	30/39	3968/6377	3893/4875	1298/1624	chr17	TogoVar

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