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
ABCA1_chr9_104776006_104933155	104858680	G G	T T	missense_variant missense_variant	MODERATE	NA18955.hp1 NA18955.hp1	a0034 a0034	a0034c0045 a0034c0045	a0034c0045t0002 a0034c0045t0002	a0034c0045t0002g0298 a0034c0045t0002g0298	1	316	0.0032	c.562 others(3): Show c.562C>A	p.Gln others(6): Show p.Gln188Lys	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	7/50	875/10408	562/6786	188/2261	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137008487	C C	T T	missense_variant missense_variant	MODERATE	HG03688.hp1 HG03688.hp1	a0012 a0012	a0012c0038 a0012c0038	a0012c0038t0001 a0012c0038t0001	a0012c0038t0001g0140 a0012c0038t0001g0140	1	318	0.0031	c.720 others(4): Show c.7204G>A	p.Ala others(7): Show p.Ala2402Thr	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	48/49	7301/8103	7204/7311	2402/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137008516	C C	T T	missense_variant missense_variant	MODERATE	HG02080.hp1 HG02080.hp1	a0008 a0008	a0008c0032 a0008c0032	a0008c0032t0001 a0008c0032t0001	a0008c0032t0001g0122 a0008c0032t0001g0122	1	318	0.0031	c.717 others(4): Show c.7175G>A	p.Arg others(7): Show p.Arg2392Gln	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	48/49	7272/8103	7175/7311	2392/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137012767	C C	T T	missense_variant missense_variant	MODERATE	NA18939.hp2 NA18939.hp2	a0013 a0013	a0013c0034 a0013c0034	a0013c0034t0001 a0013c0034t0001	a0013c0034t0001g0129 a0013c0034t0001g0129	1	318	0.0031	c.502 others(4): Show c.5026G>A	p.Gly others(7): Show p.Gly1676Ser	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	31/49	5123/8103	5026/7311	1676/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137014012	C C	A A	missense_variant missense_variant	MODERATE	HG01168.hp2 HG01496.hp1 HG01978.hp1 others(1): Show HG01168.hp2 HG01496.hp1 HG01978.hp1 HG02004.hp1	a0003 a0003	a0003c0021 a0003c0024 a0003c0021 a0003c0024	a0003c0021t0001 a0003c0024t0001 a0003c0021t0001 a0003c0024t0001	a0003c0021t0001g0080 a0003c0021t0001g0147 a0003c0024t0001g0053 others(1): Show a0003c0021t0001g0080 a0003c0021t0001g0147 a0003c0024t0001g0053 a0003c0024t0001g0057	4	318	0.0126	c.426 others(4): Show c.4267G>T	p.Val others(7): Show p.Val1423Phe	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	28/49	4364/8103	4267/7311	1423/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137014216	G G	A A	missense_variant missense_variant	MODERATE	HG03540.hp1 HG03540.hp1	a0011 a0011	a0011c0042 a0011c0042	a0011c0042t0001 a0011c0042t0001	a0011c0042t0001g0173 a0011c0042t0001g0173	1	318	0.0031	c.419 others(4): Show c.4192C>T	p.Arg others(7): Show p.Arg1398Cys	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	27/49	4289/8103	4192/7311	1398/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137014227	T T	C C	missense_variant missense_variant	MODERATE	NA20129.hp2 NA20129.hp2	a0017 a0017	a0017c0043 a0017c0043	a0017c0043t0001 a0017c0043t0001	a0017c0043t0001g0148 a0017c0043t0001g0148	1	318	0.0031	c.418 others(4): Show c.4181A>G	p.Tyr others(7): Show p.Tyr1394Cys	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	27/49	4278/8103	4181/7311	1394/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137014928	G G	C C	missense_variant missense_variant	MODERATE	HG01975.hp1 HG01975.hp1	a0007 a0007	a0007c0044 a0007c0044	a0007c0044t0001 a0007c0044t0001	a0007c0044t0001g0100 a0007c0044t0001g0100	1	318	0.0031	c.386 others(4): Show c.3867C>G	p.Phe others(7): Show p.Phe1289Leu	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	25/49	3964/8103	3867/7311	1289/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137016067	G G	A A	missense_variant missense_variant	MODERATE	HG01934.hp2 HG01934.hp2	a0006 a0006	a0006c0045 a0006c0045	a0006c0045t0002 a0006c0045t0002	a0006c0045t0002g0101 a0006c0045t0002g0101	1	318	0.0031	c.321 others(4): Show c.3212C>T	p.Pro others(7): Show p.Pro1071Leu	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	22/49	3309/8103	3212/7311	1071/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137016579	C C	T T	missense_variant missense_variant	MODERATE	NA19043.hp2 NA19043.hp2	a0015 a0015	a0015c0031 a0015c0031	a0015c0031t0002 a0015c0031t0002	a0015c0031t0002g0120 a0015c0031t0002g0120	1	318	0.0031	c.291 others(4): Show c.2918G>A	p.Arg others(6): Show p.Arg973His	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	20/49	3015/8103	2918/7311	973/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137017048	T T	C C	missense_variant missense_variant	MODERATE	HG02258.hp2 HG02258.hp2	a0009 a0009	a0009c0047 a0009c0047	a0009c0047t0001 a0009c0047t0001	a0009c0047t0001g0174 a0009c0047t0001g0174	1	318	0.0031	c.263 others(4): Show c.2630A>G	p.Gln others(6): Show p.Gln877Arg	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	19/49	2727/8103	2630/7311	877/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137017219	T T	C C	missense_variant missense_variant	MODERATE	NA19083.hp1 NA19083.hp1	a0016 a0016	a0016c0030 a0016c0030	a0016c0030t0001 a0016c0030t0001	a0016c0030t0001g0072 a0016c0030t0001g0072	1	318	0.0031	c.253 others(4): Show c.2530A>G	p.Thr others(6): Show p.Thr844Ala	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	18/49	2627/8103	2530/7311	844/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137018052	C C	T T	missense_variant missense_variant	MODERATE	NA18954.hp1 NA19083.hp1 NA18954.hp1 NA19083.hp1	a0014 a0016 a0014 a0016	a0014c0029 a0016c0030 a0014c0029 a0016c0030	a0014c0029t0001 a0016c0030t0001 a0014c0029t0001 a0016c0030t0001	a0014c0029t0001g0151 a0016c0030t0001g0072 a0014c0029t0001g0151 a0016c0030t0001g0072	2	318	0.0063	c.201 others(4): Show c.2017G>A	p.Asp others(6): Show p.Asp673Asn	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	15/49	2114/8103	2017/7311	673/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137021898	C C	T T	missense_variant missense_variant	MODERATE	NA18951.hp1 NA18970.hp2 NA19000.hp2 NA18951.hp1 NA18970.hp2 NA19000.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0023 a0004c0010t0001g0083 a0004c0010t0001g0023 a0004c0010t0001g0083	3	318	0.0094	c.671 others(3): Show c.671G>A	p.Arg others(6): Show p.Arg224Gln	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	7/49	768/8103	671/7311	224/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137021943	T T	A A	missense_variant missense_variant	MODERATE	HG00408.hp1 HG00408.hp1	a0005 a0005	a0005c0052 a0005c0052	a0005c0052t0001 a0005c0052t0001	a0005c0052t0001g0176 a0005c0052t0001g0176	1	318	0.0031	c.626 others(3): Show c.626A>T	p.Lys others(6): Show p.Lys209Met	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	7/49	723/8103	626/7311	209/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137022427	C C	T T	missense_variant missense_variant	MODERATE	HG00735.hp1 HG00741.hp2 HG01099.hp2 others(7): Show HG00735.hp1 HG00741.hp2 HG01099.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp2 HG01358.hp2 HG01516.hp1 HG01517.hp2 HG04204.hp1	a0002 a0002	a0002c0004 a0002c0026 a0002c0004 a0002c0026	a0002c0004t0001 a0002c0026t0001 a0002c0004t0001 a0002c0026t0001	a0002c0004t0001g0007 a0002c0004t0001g0194 a0002c0004t0001g0195 others(3): Show a0002c0004t0001g0007 a0002c0004t0001g0194 a0002c0004t0001g0195 a0002c0004t0001g0196 a0002c0004t0001g0197 a0002c0026t0001g0073	10	318	0.0314	c.491 others(3): Show c.491G>A	p.Arg others(6): Show p.Arg164His	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	6/49	588/8103	491/7311	164/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137022743	G G	A A	missense_variant missense_variant	MODERATE	HG03017.hp1 HG03017.hp1	a0010 a0010	a0010c0057 a0010c0057	a0010c0057t0001 a0010c0057t0001	a0010c0057t0001g0161 a0010c0057t0001g0161	1	318	0.0031	c.398 others(3): Show c.398C>T	p.Ala others(6): Show p.Ala133Val	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	5/49	495/8103	398/7311	133/2436	chr9	TogoVar
ABCA3_chr16_2270881_2345728	2276766	C C	T T	missense_variant missense_variant	MODERATE	HG01516.hp2 HG01517.hp2 HG01516.hp2 HG01517.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0150 a0002c0010t0001g0155 a0002c0010t0001g0150 a0002c0010t0001g0155	2	250	0.0080	c.502 others(4): Show c.5023G>A	p.Val others(7): Show p.Val1675Met	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	33/33	5717/6602	5023/5115	1675/1704	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2285641	C C	T T	missense_variant missense_variant	MODERATE	NA19002.hp2 NA19002.hp2	a0011 a0011	a0011c0017 a0011c0017	a0011c0017t0001 a0011c0017t0001	a0011c0017t0001g0123 a0011c0017t0001g0123	1	250	0.0040	c.328 others(4): Show c.3284G>A	p.Arg others(7): Show p.Arg1095Gln	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	23/33	3978/6602	3284/5115	1095/1704	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2286803	C C	T T	missense_variant missense_variant	MODERATE	HG03927.hp1 HG03927.hp1	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0001 a0009c0016t0001	a0009c0016t0001g0111 a0009c0016t0001g0111	1	250	0.0040	c.316 others(4): Show c.3169G>A	p.Val others(7): Show p.Val1057Met	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	22/33	3863/6602	3169/5115	1057/1704	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2295671	T T	C C	missense_variant missense_variant	MODERATE	HG03540.hp1 HG03540.hp1	a0008 a0008	a0008c0021 a0008c0021	a0008c0021t0002 a0008c0021t0002	a0008c0021t0002g0210 a0008c0021t0002g0210	1	250	0.0040	c.233 others(4): Show c.2333A>G	p.His others(6): Show p.His778Arg	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	18/33	3027/6602	2333/5115	778/1704	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2295722	G G	A A	missense_variant missense_variant	MODERATE	HG03209.hp2 HG03209.hp2	a0007 a0007	a0007c0022 a0007c0022	a0007c0022t0002 a0007c0022t0002	a0007c0022t0002g0203 a0007c0022t0002g0203	1	250	0.0040	c.228 others(4): Show c.2282C>T	p.Thr others(6): Show p.Thr761Met	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	18/33	2976/6602	2282/5115	761/1704	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2297473	G G	A A	missense_variant missense_variant	MODERATE	HG01891.hp1 HG01891.hp1	a0005 a0005	a0005c0023 a0005c0023	a0005c0023t0001 a0005c0023t0001	a0005c0023t0001g0044 a0005c0023t0001g0044	1	250	0.0040	c.211 others(4): Show c.2119C>T	p.Leu others(6): Show p.Leu707Phe	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	17/33	2813/6602	2119/5115	707/1704	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2297497	A A	C C	missense_variant missense_variant	MODERATE	NA20300.hp2 NA20300.hp2	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0001 a0012c0015t0001	a0012c0015t0001g0186 a0012c0015t0001g0186	1	250	0.0040	c.209 others(4): Show c.2095T>G	p.Ser others(6): Show p.Ser699Ala	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	17/33	2789/6602	2095/5115	699/1704	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2297858	G G	C C	missense_variant missense_variant	MODERATE	NA18978.hp2 NA18978.hp2	a0010 a0010	a0010c0027 a0010c0027	a0010c0027t0003 a0010c0027t0003	a0010c0027t0003g0018 a0010c0027t0003g0018	1	250	0.0040	c.196 others(4): Show c.1960C>G	p.Leu others(6): Show p.Leu654Val	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	16/33	2654/6602	1960/5115	654/1704	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2300067	C C	T T	missense_variant missense_variant	MODERATE	HG01192.hp1 HG01192.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0001 a0003c0014t0001	a0003c0014t0001g0098 a0003c0014t0001g0098	1	250	0.0040	c.154 others(4): Show c.1549G>A	p.Glu others(6): Show p.Glu517Lys	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	13/33	2243/6602	1549/5115	517/1704	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2300114	G G	T T	missense_variant missense_variant	MODERATE	HG01192.hp1 HG01192.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0001 a0003c0014t0001	a0003c0014t0001g0098 a0003c0014t0001g0098	1	250	0.0040	c.150 others(4): Show c.1502C>A	p.Ala others(6): Show p.Ala501Glu	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	13/33	2196/6602	1502/5115	501/1704	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2319591	C C	T T	missense_variant missense_variant	MODERATE	HG01255.hp1 HG01255.hp1	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0001 a0004c0013t0001	a0004c0013t0001g0166 a0004c0013t0001g0166	1	250	0.0040	c.863 others(3): Show c.863G>A	p.Arg others(6): Show p.Arg288Lys	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	8/33	1557/6602	863/5115	288/1704	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2326169	C C	T T	missense_variant missense_variant	MODERATE	HG02300.hp2 HG02300.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0041 a0006c0012t0001g0041	1	250	0.0040	c.160 others(3): Show c.160G>A	p.Ala others(5): Show p.Ala54Thr	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	5/33	854/6602	160/5115	54/1704	chr16	TogoVar
ABCA4_chr1_93987834_94126148	93996161	C C	A A	missense_variant missense_variant	MODERATE	HG00280.hp2 HG00544.hp1 HG00639.hp1 others(53): Show HG00280.hp2 HG00544.hp1 HG00639.hp1 HG00733.hp2 HG01081.hp2 HG01884.hp1 HG01891.hp2 HG02109.hp1 HG02109.hp2 HG02148.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03453.hp1 HG03471.hp1 HG03516.hp2 HG03540.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18997.hp2 NA19000.hp1 NA19030.hp2 NA19063.hp2 NA19089.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0003 a0004 a0005 others(14): Show a0003 a0004 a0005 a0006 a0016 a0017 a0021 a0022 a0024 a0033 a0034 a0035 a0038 a0040 a0041 a0043 a0046	a0003c0008 a0003c0015 a0003c0020 others(40): Show a0003c0008 a0003c0015 a0003c0020 a0003c0031 a0003c0033 a0003c0057 a0003c0061 a0003c0065 a0003c0066 a0003c0067 a0003c0068 a0003c0072 a0003c0075 a0003c0078 a0003c0082 a0004c0011 a0004c0035 a0004c0039 a0004c0044 a0004c0046 a0005c0026 a0005c0027 a0005c0034 a0005c0097 a0006c0012 a0006c0053 a0006c0054 a0006c0076 a0016c0089 a0016c0090 a0017c0050 a0017c0051 a0021c0077 a0022c0110 a0024c0074 a0033c0102 a0034c0092 a0035c0070 a0038c0038 a0040c0056 a0041c0071 a0043c0036 a0046c0105	a0003c0008t0002 a0003c0015t0001 a0003c0020t0001 others(40): Show a0003c0008t0002 a0003c0015t0001 a0003c0020t0001 a0003c0031t0004 a0003c0033t0001 a0003c0057t0002 a0003c0061t0001 a0003c0065t0002 a0003c0066t0003 a0003c0067t0001 a0003c0068t0001 a0003c0072t0001 a0003c0075t0001 a0003c0078t0004 a0003c0082t0002 a0004c0011t0002 a0004c0035t0002 a0004c0039t0001 a0004c0044t0002 a0004c0046t0001 a0005c0026t0001 a0005c0027t0002 a0005c0034t0002 a0005c0097t0002 a0006c0012t0001 a0006c0053t0001 a0006c0054t0002 a0006c0076t0001 a0016c0089t0001 a0016c0090t0003 a0017c0050t0001 a0017c0051t0002 a0021c0077t0002 a0022c0110t0001 a0024c0074t0002 a0033c0102t0001 a0034c0092t0004 a0035c0070t0001 a0038c0038t0001 a0040c0056t0003 a0041c0071t0003 a0043c0036t0003 a0046c0105t0001	a0003c0008t0002g0040 a0003c0008t0002g0147 a0003c0008t0002g0178 others(53): Show a0003c0008t0002g0040 a0003c0008t0002g0147 a0003c0008t0002g0178 a0003c0008t0002g0237 a0003c0008t0002g0261 a0003c0008t0002g0293 a0003c0015t0001g0184 a0003c0015t0001g0185 a0003c0020t0001g0116 a0003c0020t0001g0273 a0003c0031t0004g0131 a0003c0033t0001g0183 a0003c0057t0002g0133 a0003c0061t0001g0029 a0003c0065t0002g0259 a0003c0066t0003g0186 a0003c0067t0001g0125 a0003c0068t0001g0035 a0003c0072t0001g0039 a0003c0075t0001g0043 a0003c0078t0004g0242 a0003c0082t0002g0212 a0004c0011t0002g0111 a0004c0011t0002g0123 a0004c0011t0002g0124 a0004c0035t0002g0051 a0004c0039t0001g0115 a0004c0044t0002g0205 a0004c0046t0001g0112 a0005c0026t0001g0298 a0005c0026t0001g0299 a0005c0027t0002g0020 a0005c0027t0002g0078 a0005c0034t0002g0132 a0005c0097t0002g0093 a0006c0012t0001g0038 a0006c0012t0001g0126 a0006c0012t0001g0174 a0006c0053t0001g0295 a0006c0054t0002g0120 a0006c0076t0001g0136 a0016c0089t0001g0296 a0016c0090t0003g0031 a0017c0050t0001g0009 a0017c0051t0002g0010 a0021c0077t0002g0166 a0022c0110t0001g0300 a0024c0074t0002g0246 a0033c0102t0001g0012 a0034c0092t0004g0165 a0035c0070t0001g0297 a0038c0038t0001g0195 a0040c0056t0003g0142 a0041c0071t0003g0032 a0043c0036t0003g0050 a0046c0105t0001g0121	56	304	0.1842	c.676 others(4): Show c.6764G>T	p.Ser others(7): Show p.Ser2255Ile	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	49/50	6867/7328	6764/6822	2255/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	93998061	C C	T T	missense_variant missense_variant	MODERATE	HG01981.hp2 HG01981.hp2	a0032 a0032	a0032c0096 a0032c0096	a0032c0096t0001 a0032c0096t0001	a0032c0096t0001g0081 a0032c0096t0001g0081	1	304	0.0033	c.652 others(4): Show c.6529G>A	p.Asp others(7): Show p.Asp2177Asn	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	48/50	6632/7328	6529/6822	2177/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94001068	C C	T T	missense_variant missense_variant	MODERATE	HG02976.hp2 HG03453.hp1 HG02976.hp2 HG03453.hp1	a0041 a0043 a0041 a0043	a0041c0071 a0043c0036 a0041c0071 a0043c0036	a0041c0071t0003 a0043c0036t0003 a0041c0071t0003 a0043c0036t0003	a0041c0071t0003g0032 a0043c0036t0003g0050 a0041c0071t0003g0032 a0043c0036t0003g0050	2	304	0.0066	c.632 others(4): Show c.6320G>A	p.Arg others(7): Show p.Arg2107His	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	46/50	6423/7328	6320/6822	2107/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94005469	C C	T T	missense_variant missense_variant	MODERATE	NA19011.hp1 NA19011.hp1	a0047 a0047	a0047c0063 a0047c0063	a0047c0063t0001 a0047c0063t0001	a0047c0063t0001g0094 a0047c0063t0001g0094	1	304	0.0033	c.611 others(4): Show c.6119G>A	p.Arg others(7): Show p.Arg2040Gln	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	44/50	6222/7328	6119/6822	2040/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94007731	G G	A A	missense_variant missense_variant	MODERATE	HG01074.hp1 HG01074.hp1	a0025 a0025	a0025c0083 a0025c0083	a0025c0083t0001 a0025c0083t0001	a0025c0083t0001g0158 a0025c0083t0001g0158	1	304	0.0033	c.590 others(4): Show c.5908C>T	p.Leu others(7): Show p.Leu1970Phe	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	43/50	6011/7328	5908/6822	1970/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94008251	C C	T T	missense_variant missense_variant	MODERATE	HG01169.hp1 HG01169.hp1	a0027 a0027	a0027c0093 a0027c0093	a0027c0093t0001 a0027c0093t0001	a0027c0093t0001g0014 a0027c0093t0001g0014	1	304	0.0033	c.588 others(4): Show c.5882G>A	p.Gly others(7): Show p.Gly1961Glu	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	42/50	5985/7328	5882/6822	1961/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94008290	G G	A A	missense_variant missense_variant	MODERATE	HG00738.hp2 HG01243.hp2 HG01515.hp1 others(2): Show HG00738.hp2 HG01243.hp2 HG01515.hp1 HG02559.hp2 HG03710.hp2	a0009 a0013 a0009 a0013	a0009c0021 a0009c0073 a0013c0016 a0009c0021 a0009c0073 a0013c0016	a0009c0021t0001 a0009c0073t0001 a0013c0016t0001 a0009c0021t0001 a0009c0073t0001 a0013c0016t0001	a0009c0021t0001g0173 a0009c0021t0001g0250 a0009c0073t0001g0264 others(2): Show a0009c0021t0001g0173 a0009c0021t0001g0250 a0009c0073t0001g0264 a0013c0016t0001g0023 a0013c0016t0001g0171	5	304	0.0164	c.584 others(4): Show c.5843C>T	p.Pro others(7): Show p.Pro1948Leu	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	42/50	5946/7328	5843/6822	1948/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94010821	C C	T T	missense_variant missense_variant	MODERATE	NA20752.hp2 NA20752.hp2	a0050 a0050	a0050c0062 a0050c0062	a0050c0062t0001 a0050c0062t0001	a0050c0062t0001g0256 a0050c0062t0001g0256	1	304	0.0033	c.569 others(4): Show c.5693G>A	p.Arg others(7): Show p.Arg1898His	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	40/50	5796/7328	5693/6822	1898/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94010911	T T	A A	missense_variant missense_variant	MODERATE	HG00099.hp1 HG01109.hp1 HG02735.hp1 HG00099.hp1 HG01109.hp1 HG02735.hp1	a0012 a0026 a0012 a0026	a0012c0022 a0026c0099 a0012c0022 a0026c0099	a0012c0022t0001 a0026c0099t0001 a0012c0022t0001 a0026c0099t0001	a0012c0022t0001g0245 a0012c0022t0001g0251 a0026c0099t0001g0249 a0012c0022t0001g0245 a0012c0022t0001g0251 a0026c0099t0001g0249	3	304	0.0099	c.560 others(4): Show c.5603A>T	p.Asn others(7): Show p.Asn1868Ile	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	40/50	5706/7328	5603/6822	1868/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94011364	C C	T T	missense_variant missense_variant	MODERATE	HG00642.hp2 HG00642.hp2	a0023 a0023	a0023c0109 a0023c0109	a0023c0109t0001 a0023c0109t0001	a0023c0109t0001g0243 a0023c0109t0001g0243	1	304	0.0033	c.548 others(4): Show c.5482G>A	p.Val others(7): Show p.Val1828Met	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	39/50	5585/7328	5482/6822	1828/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94019722	C C	T T	missense_variant missense_variant	MODERATE	HG02886.hp1 HG02886.hp1	a0037 a0037	a0037c0059 a0037c0059	a0037c0059t0001 a0037c0059t0001	a0037c0059t0001g0045 a0037c0059t0001g0045	1	304	0.0033	c.505 others(4): Show c.5056G>A	p.Val others(7): Show p.Val1686Met	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	36/50	5159/7328	5056/6822	1686/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94029481	C C	G G	missense_variant missense_variant	MODERATE	HG02886.hp1 HG03486.hp2 HG02886.hp1 HG03486.hp2	a0037 a0044 a0037 a0044	a0037c0059 a0044c0060 a0037c0059 a0044c0060	a0037c0059t0001 a0044c0060t0001 a0037c0059t0001 a0044c0060t0001	a0037c0059t0001g0045 a0044c0060t0001g0008 a0037c0059t0001g0045 a0044c0060t0001g0008	2	304	0.0066	c.450 others(4): Show c.4503G>C	p.Glu others(7): Show p.Glu1501Asp	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	30/50	4606/7328	4503/6822	1501/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94030438	C C	T T	missense_variant missense_variant	MODERATE	HG01891.hp1 HG01891.hp1	a0030 a0030	a0030c0058 a0030c0058	a0030c0058t0001 a0030c0058t0001	a0030c0058t0001g0042 a0030c0058t0001g0042	1	304	0.0033	c.434 others(4): Show c.4342G>A	p.Gly others(7): Show p.Gly1448Arg	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	29/50	4445/7328	4342/6822	1448/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94030453	G G	A A	missense_variant missense_variant	MODERATE	HG02970.hp1 HG02970.hp1	a0040 a0040	a0040c0056 a0040c0056	a0040c0056t0003 a0040c0056t0003	a0040c0056t0003g0142 a0040c0056t0003g0142	1	304	0.0033	c.432 others(4): Show c.4327C>T	p.Arg others(7): Show p.Arg1443Cys	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	29/50	4430/7328	4327/6822	1443/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94030492	G G	A A	missense_variant missense_variant	MODERATE	HG02818.hp1 HG02818.hp1	a0036 a0036	a0036c0101 a0036c0101	a0036c0101t0001 a0036c0101t0001	a0036c0101t0001g0011 a0036c0101t0001g0011	1	304	0.0033	c.428 others(4): Show c.4288C>T	p.Leu others(7): Show p.Leu1430Phe	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	29/50	4391/7328	4288/6822	1430/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94030497	G G	A A	missense_variant missense_variant	MODERATE	HG02027.hp2 NA18991.hp2 NA19007.hp1 HG02027.hp2 NA18991.hp2 NA19007.hp1	a0010 a0010	a0010c0023 a0010c0069 a0010c0023 a0010c0069	a0010c0023t0001 a0010c0069t0001 a0010c0023t0001 a0010c0069t0001	a0010c0023t0001g0149 a0010c0023t0001g0209 a0010c0069t0001g0274 a0010c0023t0001g0149 a0010c0023t0001g0209 a0010c0069t0001g0274	3	304	0.0099	c.428 others(4): Show c.4283C>T	p.Thr others(7): Show p.Thr1428Met	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	29/50	4386/7328	4283/6822	1428/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94030524	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0020 a0020	a0020c0019 a0020c0019	a0020c0019t0001 a0020c0019t0001	a0020c0019t0001g0069 a0020c0019t0001g0168 a0020c0019t0001g0069 a0020c0019t0001g0168	2	304	0.0066	c.425 others(4): Show c.4256T>C	p.Met others(7): Show p.Met1419Thr	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	29/50	4359/7328	4256/6822	1419/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94032007	C C	T T	missense_variant missense_variant	MODERATE	HG02559.hp1 HG02809.hp1 HG02896.hp1 others(5): Show HG02559.hp1 HG02809.hp1 HG02896.hp1 HG02970.hp1 HG03139.hp2 HG03453.hp2 HG03540.hp1 HG06807.hp1	a0011 a0034 a0035 others(3): Show a0011 a0034 a0035 a0039 a0040 a0042	a0011c0018 a0011c0079 a0034c0092 others(4): Show a0011c0018 a0011c0079 a0034c0092 a0035c0070 a0039c0086 a0040c0056 a0042c0104	a0011c0018t0001 a0011c0079t0001 a0034c0092t0004 others(4): Show a0011c0018t0001 a0011c0079t0001 a0034c0092t0004 a0035c0070t0001 a0039c0086t0001 a0040c0056t0003 a0042c0104t0001	a0011c0018t0001g0006 a0011c0018t0001g0110 a0011c0079t0001g0129 others(5): Show a0011c0018t0001g0006 a0011c0018t0001g0110 a0011c0079t0001g0129 a0034c0092t0004g0165 a0035c0070t0001g0297 a0039c0086t0001g0128 a0040c0056t0003g0142 a0042c0104t0001g0130	8	304	0.0263	c.389 others(4): Show c.3899G>A	p.Arg others(7): Show p.Arg1300Gln	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	27/50	4002/7328	3899/6822	1300/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94037332	A A	G G	missense_variant missense_variant	MODERATE	HG00544.hp1 HG00621.hp2 HG01261.hp2 others(4): Show HG00544.hp1 HG00621.hp2 HG01261.hp2 HG02080.hp2 NA19004.hp2 NA19081.hp2 NA19087.hp2	a0008 a0021 a0029 a0008 a0021 a0029	a0008c0014 a0008c0024 a0021c0077 others(1): Show a0008c0014 a0008c0024 a0021c0077 a0029c0091	a0008c0014t0001 a0008c0024t0001 a0021c0077t0002 others(1): Show a0008c0014t0001 a0008c0024t0001 a0021c0077t0002 a0029c0091t0001	a0008c0014t0001g0106 a0008c0014t0001g0108 a0008c0014t0001g0155 others(4): Show a0008c0014t0001g0106 a0008c0014t0001g0108 a0008c0014t0001g0155 a0008c0024t0001g0283 a0008c0024t0001g0287 a0021c0077t0002g0166 a0029c0091t0001g0248	7	304	0.0230	c.362 others(4): Show c.3626T>C	p.Met others(7): Show p.Met1209Thr	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	25/50	3729/7328	3626/6822	1209/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94040048	A A	C C	missense_variant missense_variant	MODERATE	HG01891.hp2 HG02257.hp1 HG02486.hp2 others(9): Show HG01891.hp2 HG02257.hp1 HG02486.hp2 HG02717.hp1 HG02895.hp1 HG02922.hp2 HG03041.hp2 HG03098.hp1 HG03209.hp2 HG03471.hp1 NA18906.hp1 NA18906.hp2	a0006 a0016 a0018 others(2): Show a0006 a0016 a0018 a0033 a0046	a0006c0012 a0006c0053 a0006c0054 others(6): Show a0006c0012 a0006c0053 a0006c0054 a0006c0076 a0016c0089 a0016c0090 a0018c0017 a0033c0102 a0046c0105	a0006c0012t0001 a0006c0053t0001 a0006c0054t0002 others(6): Show a0006c0012t0001 a0006c0053t0001 a0006c0054t0002 a0006c0076t0001 a0016c0089t0001 a0016c0090t0003 a0018c0017t0001 a0033c0102t0001 a0046c0105t0001	a0006c0012t0001g0038 a0006c0012t0001g0126 a0006c0012t0001g0174 others(9): Show a0006c0012t0001g0038 a0006c0012t0001g0126 a0006c0012t0001g0174 a0006c0053t0001g0295 a0006c0054t0002g0120 a0006c0076t0001g0136 a0016c0089t0001g0296 a0016c0090t0003g0031 a0018c0017t0001g0034 a0018c0017t0001g0037 a0033c0102t0001g0012 a0046c0105t0001g0121	12	304	0.0395	c.360 others(4): Show c.3602T>G	p.Leu others(7): Show p.Leu1201Arg	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	24/50	3705/7328	3602/6822	1201/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94047009	C C	T T	missense_variant missense_variant	MODERATE	HG01192.hp2 HG01192.hp2	a0028 a0028	a0028c0088 a0028c0088	a0028c0088t0001 a0028c0088t0001	a0028c0088t0001g0015 a0028c0088t0001g0015	1	304	0.0033	c.282 others(4): Show c.2828G>A	p.Arg others(6): Show p.Arg943Gln	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	19/50	2931/7328	2828/6822	943/2273	chr1	TogoVar

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