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	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
ABCE1_chr4_145093311_145134524	145124986	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(253): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19062.hp1 NA19062.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19083.hp1 NA19083.hp2 NA19086.hp1 NA19086.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0002t0003 a0001c0003t0006 a0001c0004t0004 a0002c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(133): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0002g0009 a0001c0001t0002g0086 a0001c0001t0002g0103 a0001c0001t0005g0135 a0001c0001t0005g0136 a0001c0001t0007g0026 a0001c0001t0008g0127 a0001c0001t0009g0123 a0001c0002t0003g0013 a0001c0002t0003g0090 a0001c0003t0006g0022 a0001c0004t0004g0130 a0001c0004t0004g0131 a0002c0005t0001g0001	256	258	0.9922	0	c.164 others(6): Show c.1641-4T>C		ABCE1	ENSG00000164163.11	transcript	ENST00000296577.9	protein_coding	16/17					chr4	TogoVar
ABCF1_chr6_30566442_30596522	30578077	A A	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03669.hp2 HG03669.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0014 a0008c0013t0001g0014	1	414	0.0024	0	c.218 others(3): Show c.218A>C	p.Gln others(5): Show p.Gln73Pro	ABCF1	ENSG00000204574.14	transcript	ENST00000326195.13	protein_coding	4/25	264/3405	218/2538	73/845		chr6	TogoVar
ABCF1_chr6_30566442_30596522	30584410	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02630.hp1 HG03225.hp1 HG02630.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0182 a0001c0001t0001g0167 a0001c0001t0001g0182	2	414	0.0048	0	c.124 others(6): Show c.1243-8C>T		ABCF1	ENSG00000204574.14	transcript	ENST00000326195.13	protein_coding	13/24					chr6	TogoVar
ABCF2_chr7_151206484_151232205	151222621	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00735.hp1 HG01109.hp1 HG01884.hp2 others(4): Show HG00735.hp1 HG01109.hp1 HG01884.hp2 HG02717.hp2 HG02818.hp2 HG03098.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0015 a0001c0002t0009g0025 a0001c0002t0009g0055 a0001c0002t0009g0015 a0001c0002t0009g0025 a0001c0002t0009g0055	7	388	0.0180	0	c.723 others(5): Show c.723-5T>C		ABCF2	ENSG00000033050.9	transcript	ENST00000287844.7	protein_coding	5/14					chr7	TogoVar
ABCF3_chr3_184181199_184199005	184187991	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp1 HG01891.hp1 HG03225.hp2 others(2): Show HG01109.hp1 HG01891.hp1 HG03225.hp2 HG03486.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 others(1): Show a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0045	5	414	0.0121	0	c.569 others(5): Show c.569+8A>C		ABCF3	ENSG00000161204.12	transcript	ENST00000429586.7	protein_coding	6/20					chr3	TogoVar
ABCF3_chr3_184181199_184199005	184188134	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0033 a0001c0002t0001g0033	1	414	0.0024	0	c.570 others(5): Show c.570-7C>T		ABCF3	ENSG00000161204.12	transcript	ENST00000429586.7	protein_coding	6/20					chr3	TogoVar
ABCF3_chr3_184181199_184199005	184189906	AGTAAACT others(36): Show AGTAAACTCAAGATGCTGGAGAAGCTGTGAGTACAGCATCCTTG	A A	splice_donor_variant others(3): Show splice_donor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	NA18961.hp2 NA18961.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0027 a0007c0012t0001g0027	1	414	0.0024	-43	c.136 others(55): Show c.1368_1391+19delTAAACTCAAGATGCTGGAGAAGCTGTGAGTACA GCATCCTTGG	p.Ser others(19): Show p.Ser456_Leu464delinsArg	ABCF3	ENSG00000161204.12	transcript	ENST00000429586.7	protein_coding	14/21	1377/2446	1368/2130	456/709	INFO_REALIGN_3_PRIME	chr3	TogoVar
ABCF3_chr3_184181199_184199005	184192687	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0002 a0001c0013t0001g0002	1	414	0.0024	0	c.165 others(4): Show c.1656C>T	p.His others(6): Show p.His552His	ABCF3	ENSG00000161204.12	transcript	ENST00000429586.7	protein_coding	17/21	1665/2446	1656/2130	552/709		chr3	TogoVar
ABCG1_chr21_42214140_42302244	42225918	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02129.hp2 NA18962.hp1 NA18969.hp1 others(2): Show HG02129.hp2 NA18962.hp1 NA18969.hp1 NA18973.hp2 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0020 a0001c0001t0005 a0001c0001t0020	a0001c0001t0005g0001 a0001c0001t0005g0016 a0001c0001t0005g0068 others(1): Show a0001c0001t0005g0001 a0001c0001t0005g0016 a0001c0001t0005g0068 a0001c0001t0020g0017	5	352	0.0142	0	c.286 others(5): Show c.286+4G>A		ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	2/14					chr21	TogoVar
ABCG1_chr21_42214140_42302244	42276889	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00423.hp2 HG00438.hp2 HG00639.hp2 others(23): Show HG00423.hp2 HG00438.hp2 HG00639.hp2 HG01106.hp1 HG01256.hp1 HG01346.hp1 HG02027.hp2 HG02080.hp1 HG02083.hp1 HG02523.hp2 HG02698.hp1 HG02698.hp2 HG03017.hp2 HG03669.hp2 HG03688.hp1 HG03942.hp1 HG04199.hp1 NA18612.hp2 NA18943.hp1 NA18957.hp1 NA18980.hp2 NA18999.hp2 NA19000.hp2 NA19007.hp2 NA19010.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007	a0001c0001t0001g0172 a0001c0001t0001g0179 a0001c0001t0001g0185 others(23): Show a0001c0001t0001g0172 a0001c0001t0001g0179 a0001c0001t0001g0185 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0235 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0002g0075 a0001c0001t0002g0106 a0001c0001t0002g0122 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0190 a0001c0001t0002g0217 a0001c0001t0002g0286 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0003g0138 a0001c0001t0003g0224 a0001c0001t0005g0023 a0001c0001t0006g0040 a0001c0001t0006g0061 a0001c0001t0007g0057	26	352	0.0739	0	c.538 others(5): Show c.538-6C>T		ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	4/14					chr21	TogoVar
ABCG1_chr21_42214140_42302244	42288312	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0004 a0001c0011t0004	a0001c0011t0004g0089 a0001c0011t0004g0089	1	352	0.0028	0	c.122 others(4): Show c.1224G>A	p.Ser others(6): Show p.Ser408Ser	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	10/15	1347/2976	1224/2001	408/666		chr21	TogoVar
ABCG1_chr21_42214140_42302244	42290045	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0250 a0001c0003t0001g0250	1	352	0.0028	0	c.122 others(6): Show c.1225-5C>T		ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	10/14					chr21	TogoVar
ABCG2_chr4_88085269_88163639	88090270	A A	G G	splice_region_variant splice_region_variant	LOW	HG02572.hp1 HG03139.hp1 NA19043.hp1 others(1): Show HG02572.hp1 HG03139.hp1 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0016 a0001c0001t0006 a0001c0001t0016	a0001c0001t0006g0084 a0001c0001t0006g0085 a0001c0001t0006g0150 others(1): Show a0001c0001t0006g0084 a0001c0001t0006g0085 a0001c0001t0006g0150 a0001c0001t0016g0331	4	348	0.0115	0	c.19 others(5): Show c.1964T>C		ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	16/16					chr4	TogoVar
ABCG2_chr4_88085269_88163639	88092380	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19056.hp1 NA19056.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0260 a0010c0010t0001g0260	1	348	0.0029	0	c.182 others(4): Show c.1822T>C	p.Cys others(6): Show p.Cys608Arg	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	16/16	2095/4206	1822/1968	608/655		chr4	TogoVar
ABCG2_chr4_88085269_88163639	88131805	G G	A A	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	NA18962.hp1 NA19003.hp2 NA19068.hp2 NA18962.hp1 NA19003.hp2 NA19068.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0239 a0004c0006t0001g0240 a0004c0006t0001g0314 a0004c0006t0001g0239 a0004c0006t0001g0240 a0004c0006t0001g0314	3	348	0.0086	0	c.376 others(3): Show c.376C>T	p.Gln others(4): Show p.Gln126*	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	4/16	649/4206	376/1968	126/655		chr4	TogoVar
ABCG2_chr4_88085269_88163639	88132638	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp2 HG02809.hp1 HG02895.hp2 others(3): Show HG01109.hp2 HG02809.hp1 HG02895.hp2 HG02965.hp1 HG03453.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0090 a0001c0001t0001g0097 others(3): Show a0001c0001t0001g0076 a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0123	6	348	0.0172	0	c.204 others(5): Show c.204-3C>T		ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	2/15					chr4	TogoVar
ABCG4_chr11_119144052_119167653	119156561	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0007 a0001c0016t0007	a0001c0016t0007g0082 a0001c0016t0007g0082	1	386	0.0026	0	c.811 others(5): Show c.811-3C>T		ABCG4	ENSG00000172350.10	transcript	ENST00000619701.5	protein_coding	7/14					chr11	TogoVar
ABCG4_chr11_119144052_119167653	119158220	T T	TTTC TTTC	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01099.hp1 HG01123.hp2 HG01243.hp1 others(33): Show HG01099.hp1 HG01123.hp2 HG01243.hp1 HG02145.hp1 HG02257.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp1 HG03579.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA19030.hp2 NA19043.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0007c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0002c0002t0002 a0002c0002t0003 a0002c0003t0003 a0007c0008t0002	a0001c0001t0001g0087 a0001c0001t0002g0012 a0001c0001t0006g0031 others(16): Show a0001c0001t0001g0087 a0001c0001t0002g0012 a0001c0001t0006g0031 a0001c0001t0006g0057 a0001c0001t0006g0060 a0002c0002t0002g0011 a0002c0002t0002g0021 a0002c0002t0002g0032 a0002c0002t0002g0043 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0059 a0002c0002t0002g0080 a0002c0002t0002g0086 a0002c0002t0003g0006 a0002c0002t0003g0058 a0002c0003t0003g0006 a0002c0003t0003g0100 a0007c0008t0002g0011	36	386	0.0933	3	c.106 others(16): Show c.1069-7_1069-5dupTTC		ABCG4	ENSG00000172350.10	transcript	ENST00000619701.5	protein_coding	9/14				INFO_REALIGN_3_PRIME	chr11	TogoVar
ABCG5_chr2_43807472_43843839	43824434	T T	TA TA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18950.hp2 NA18991.hp1 NA18993.hp2 others(1): Show NA18950.hp2 NA18991.hp1 NA18993.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0097 a0001c0001t0001g0140 a0001c0001t0001g0033 a0001c0001t0001g0097 a0001c0001t0001g0140	4	328	0.0122	1	c.905 others(6): Show c.905-3dupT		ABCG5	ENSG00000138075.14	transcript	ENST00000405322.8	protein_coding	7/12					chr2	TogoVar
ABCG8_chr2_43833971_43887988	43844500	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00280.hp1 HG00438.hp2 others(152): Show HG00099.hp1 HG00280.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01255.hp2 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01993.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03453.hp1 HG03471.hp2 HG03490.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18906.hp2 NA18939.hp1 NA18942.hp2 NA18944.hp1 NA18948.hp2 NA18952.hp2 NA18954.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18998.hp1 NA19000.hp1 NA19003.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19012.hp2 NA19062.hp2 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19085.hp1 NA19086.hp2 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp2 NA21309.hp1	a0001 a0003 a0005 others(6): Show a0001 a0003 a0005 a0007 a0009 a0012 a0013 a0014 a0016	a0001c0001 a0001c0008 a0003c0002 others(9): Show a0001c0001 a0001c0008 a0003c0002 a0003c0017 a0005c0007 a0007c0009 a0007c0020 a0009c0012 a0012c0031 a0013c0029 a0014c0025 a0016c0030	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(55): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0047 a0001c0001t0048 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0062 a0001c0001t0063 a0001c0001t0065 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0008t0008 a0001c0008t0015 a0001c0008t0029 a0001c0008t0050 a0001c0008t0051 a0001c0008t0073 a0003c0002t0018 a0003c0002t0019 a0003c0002t0021 a0003c0002t0042 a0003c0002t0075 a0003c0002t0093 a0003c0017t0007 a0005c0007t0006 a0005c0007t0052 a0005c0007t0053 a0007c0009t0022 a0007c0009t0028 a0007c0009t0049 a0007c0020t0061 a0009c0012t0023 a0009c0012t0072 a0012c0031t0045 a0013c0029t0066 a0014c0025t0074 a0016c0030t0046	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 others(140): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0116 a0001c0001t0001g0140 a0001c0001t0003g0051 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0071 a0001c0001t0003g0075 a0001c0001t0003g0087 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0107 a0001c0001t0003g0111 a0001c0001t0003g0114 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0130 a0001c0001t0003g0134 a0001c0001t0003g0137 a0001c0001t0003g0139 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0007g0010 a0001c0001t0007g0057 a0001c0001t0007g0089 a0001c0001t0007g0095 a0001c0001t0007g0118 a0001c0001t0007g0142 a0001c0001t0007g0145 a0001c0001t0010g0007 a0001c0001t0010g0060 a0001c0001t0010g0068 a0001c0001t0010g0082 a0001c0001t0010g0102 a0001c0001t0010g0120 a0001c0001t0011g0011 a0001c0001t0011g0012 a0001c0001t0011g0123 a0001c0001t0011g0124 a0001c0001t0011g0125 a0001c0001t0015g0065 a0001c0001t0016g0003 a0001c0001t0016g0106 a0001c0001t0017g0052 a0001c0001t0017g0084 a0001c0001t0017g0128 a0001c0001t0017g0132 a0001c0001t0029g0046 a0001c0001t0030g0117 a0001c0001t0030g0119 a0001c0001t0031g0056 a0001c0001t0031g0067 a0001c0001t0032g0007 a0001c0001t0032g0081 a0001c0001t0033g0008 a0001c0001t0033g0138 a0001c0001t0034g0079 a0001c0001t0034g0093 a0001c0001t0035g0053 a0001c0001t0035g0054 a0001c0001t0047g0113 a0001c0001t0048g0086 a0001c0001t0054g0135 a0001c0001t0055g0136 a0001c0001t0056g0092 a0001c0001t0057g0010 a0001c0001t0058g0110 a0001c0001t0059g0133 a0001c0001t0060g0049 a0001c0001t0062g0050 a0001c0001t0063g0066 a0001c0001t0065g0115 a0001c0001t0067g0112 a0001c0001t0068g0101 a0001c0001t0069g0129 a0001c0001t0070g0090 a0001c0001t0071g0108 a0001c0008t0008g0274 a0001c0008t0015g0074 a0001c0008t0015g0076 a0001c0008t0015g0077 a0001c0008t0015g0144 a0001c0008t0029g0152 a0001c0008t0050g0073 a0001c0008t0051g0141 a0001c0008t0073g0078 a0003c0002t0018g0015 a0003c0002t0018g0158 a0003c0002t0018g0159 a0003c0002t0019g0063 a0003c0002t0019g0157 a0003c0002t0019g0163 a0003c0002t0019g0165 a0003c0002t0021g0149 a0003c0002t0021g0150 a0003c0002t0021g0151 a0003c0002t0042g0016 a0003c0002t0075g0160 a0003c0002t0093g0161 a0003c0017t0007g0014 a0005c0007t0006g0006 a0005c0007t0006g0013 a0005c0007t0006g0055 a0005c0007t0006g0064 a0005c0007t0006g0109 a0005c0007t0006g0127 a0005c0007t0006g0131 a0005c0007t0006g0143 a0005c0007t0006g0148 a0005c0007t0052g0013 a0005c0007t0053g0155 a0007c0009t0022g0005 a0007c0009t0022g0032 a0007c0009t0028g0033 a0007c0009t0028g0034 a0007c0009t0049g0031 a0007c0020t0061g0029 a0009c0012t0023g0026 a0009c0012t0023g0027 a0009c0012t0023g0028 a0009c0012t0072g0024 a0012c0031t0045g0025 a0013c0029t0066g0126 a0014c0025t0074g0156 a0016c0030t0046g0083	155	316	0.4905	0	c.64- others(4): Show c.64-7C>T		ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding	1/12					chr2	TogoVar
ABCG8_chr2_43833971_43887988	43852601	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02717.hp2 HG02717.hp2	a0015 a0015	a0015c0028 a0015c0028	a0015c0028t0043 a0015c0028t0043	a0015c0028t0043g0291 a0015c0028t0043g0291	1	316	0.0032	0	c.697 others(3): Show c.697A>G	p.Ile others(6): Show p.Ile233Val	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding	6/13	780/7180	697/2022	233/673		chr2	TogoVar
ABCG8_chr2_43833971_43887988	43874398	A A	AT AT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00438.hp2 HG00597.hp1 others(70): Show HG00099.hp2 HG00438.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00741.hp2 HG01099.hp2 HG01109.hp2 HG01515.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01978.hp2 HG01993.hp1 HG02027.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02300.hp2 HG02451.hp2 HG02559.hp1 HG02622.hp1 HG02723.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp2 HG03540.hp2 HG03579.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 NA18939.hp2 NA18942.hp1 NA18948.hp2 NA18957.hp1 NA18964.hp2 NA18969.hp1 NA18970.hp2 NA18972.hp1 NA18974.hp2 NA18983.hp2 NA18987.hp1 NA19000.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19085.hp1 NA19089.hp1 NA19091.hp1 NA20129.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0018	a0001c0001 a0002c0003 a0002c0024 others(7): Show a0001c0001 a0002c0003 a0002c0024 a0002c0026 a0003c0002 a0003c0017 a0003c0021 a0005c0007 a0006c0005 a0018c0027	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(33): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0030 a0001c0001t0048 a0001c0001t0062 a0001c0001t0063 a0001c0001t0071 a0002c0003t0004 a0002c0003t0005 a0002c0003t0027 a0002c0003t0036 a0002c0003t0041 a0002c0003t0098 a0002c0024t0108 a0002c0026t0087 a0003c0002t0001 a0003c0002t0002 a0003c0002t0004 a0003c0002t0019 a0003c0002t0021 a0003c0002t0039 a0003c0002t0064 a0003c0002t0076 a0003c0017t0007 a0003c0021t0007 a0005c0007t0006 a0005c0007t0053 a0006c0005t0002 a0006c0005t0004 a0006c0005t0041 a0006c0005t0088 a0018c0027t0005	a0001c0001t0001g0009 a0001c0001t0001g0080 a0001c0001t0001g0100 others(63): Show a0001c0001t0001g0009 a0001c0001t0001g0080 a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0140 a0001c0001t0003g0071 a0001c0001t0003g0075 a0001c0001t0003g0087 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0122 a0001c0001t0003g0137 a0001c0001t0003g0153 a0001c0001t0010g0102 a0001c0001t0015g0065 a0001c0001t0016g0003 a0001c0001t0016g0106 a0001c0001t0017g0132 a0001c0001t0030g0117 a0001c0001t0048g0086 a0001c0001t0062g0050 a0001c0001t0063g0066 a0001c0001t0071g0108 a0002c0003t0004g0199 a0002c0003t0005g0196 a0002c0003t0005g0203 a0002c0003t0005g0230 a0002c0003t0005g0233 a0002c0003t0005g0249 a0002c0003t0027g0235 a0002c0003t0036g0022 a0002c0003t0041g0169 a0002c0003t0098g0171 a0002c0024t0108g0250 a0002c0026t0087g0198 a0003c0002t0001g0021 a0003c0002t0001g0189 a0003c0002t0001g0214 a0003c0002t0002g0264 a0003c0002t0004g0172 a0003c0002t0004g0208 a0003c0002t0019g0063 a0003c0002t0019g0157 a0003c0002t0019g0163 a0003c0002t0019g0165 a0003c0002t0021g0149 a0003c0002t0021g0150 a0003c0002t0021g0151 a0003c0002t0039g0279 a0003c0002t0064g0146 a0003c0002t0076g0238 a0003c0017t0007g0014 a0003c0021t0007g0030 a0005c0007t0006g0109 a0005c0007t0053g0155 a0006c0005t0002g0245 a0006c0005t0002g0260 a0006c0005t0004g0023 a0006c0005t0004g0218 a0006c0005t0004g0219 a0006c0005t0004g0221 a0006c0005t0004g0244 a0006c0005t0004g0259 a0006c0005t0041g0243 a0006c0005t0088g0246 a0018c0027t0005g0232	73	316	0.2310	1	c.141 others(14): Show c.1412-9_1412-8insT		ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding	9/12					chr2	TogoVar
ABCG8_chr2_43833971_43887988	43874399	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(257): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19062.hp1 NA19062.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0012 a0015 a0016 a0017 a0018	a0001c0001 a0001c0008 a0002c0003 others(22): Show a0001c0001 a0001c0008 a0002c0003 a0002c0004 a0002c0024 a0002c0026 a0003c0002 a0003c0014 a0003c0017 a0003c0021 a0003c0022 a0004c0006 a0005c0007 a0006c0005 a0007c0009 a0007c0020 a0008c0016 a0008c0018 a0009c0012 a0011c0023 a0012c0031 a0015c0028 a0016c0030 a0017c0019 a0018c0027	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(103): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0047 a0001c0001t0048 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0062 a0001c0001t0063 a0001c0001t0065 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0071 a0001c0008t0008 a0001c0008t0015 a0001c0008t0029 a0001c0008t0050 a0001c0008t0073 a0002c0003t0002 a0002c0003t0004 a0002c0003t0005 a0002c0003t0012 a0002c0003t0013 a0002c0003t0027 a0002c0003t0036 a0002c0003t0039 a0002c0003t0041 a0002c0003t0090 a0002c0003t0097 a0002c0003t0098 a0002c0003t0101 a0002c0003t0103 a0002c0003t0107 a0002c0004t0008 a0002c0004t0009 a0002c0004t0014 a0002c0004t0037 a0002c0004t0038 a0002c0004t0077 a0002c0004t0078 a0002c0004t0081 a0002c0024t0108 a0002c0026t0087 a0003c0002t0001 a0003c0002t0002 a0003c0002t0004 a0003c0002t0005 a0003c0002t0010 a0003c0002t0018 a0003c0002t0019 a0003c0002t0021 a0003c0002t0026 a0003c0002t0027 a0003c0002t0039 a0003c0002t0064 a0003c0002t0075 a0003c0002t0076 a0003c0002t0089 a0003c0002t0104 a0003c0002t0106 a0003c0014t0043 a0003c0017t0007 a0003c0021t0007 a0003c0022t0014 a0004c0006t0024 a0004c0006t0025 a0004c0006t0083 a0005c0007t0006 a0005c0007t0052 a0005c0007t0053 a0006c0005t0002 a0006c0005t0004 a0006c0005t0027 a0006c0005t0041 a0006c0005t0088 a0007c0009t0022 a0007c0009t0028 a0007c0009t0049 a0007c0020t0061 a0008c0016t0044 a0008c0018t0002 a0009c0012t0023 a0009c0012t0072 a0011c0023t0084 a0012c0031t0045 a0015c0028t0043 a0016c0030t0046 a0017c0019t0109 a0018c0027t0005	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 others(240): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0116 a0001c0001t0001g0140 a0001c0001t0003g0051 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0071 a0001c0001t0003g0075 a0001c0001t0003g0087 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0107 a0001c0001t0003g0111 a0001c0001t0003g0114 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0130 a0001c0001t0003g0134 a0001c0001t0003g0137 a0001c0001t0003g0139 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0007g0010 a0001c0001t0007g0057 a0001c0001t0007g0089 a0001c0001t0007g0118 a0001c0001t0007g0145 a0001c0001t0010g0007 a0001c0001t0010g0060 a0001c0001t0010g0068 a0001c0001t0010g0082 a0001c0001t0010g0102 a0001c0001t0010g0120 a0001c0001t0011g0011 a0001c0001t0011g0012 a0001c0001t0011g0123 a0001c0001t0011g0124 a0001c0001t0011g0125 a0001c0001t0015g0065 a0001c0001t0016g0003 a0001c0001t0016g0106 a0001c0001t0017g0052 a0001c0001t0017g0084 a0001c0001t0017g0128 a0001c0001t0017g0132 a0001c0001t0030g0117 a0001c0001t0030g0119 a0001c0001t0031g0056 a0001c0001t0031g0067 a0001c0001t0032g0007 a0001c0001t0032g0081 a0001c0001t0033g0008 a0001c0001t0033g0138 a0001c0001t0034g0079 a0001c0001t0034g0093 a0001c0001t0035g0053 a0001c0001t0035g0054 a0001c0001t0047g0113 a0001c0001t0048g0086 a0001c0001t0054g0135 a0001c0001t0055g0136 a0001c0001t0056g0092 a0001c0001t0057g0010 a0001c0001t0058g0110 a0001c0001t0059g0133 a0001c0001t0060g0049 a0001c0001t0062g0050 a0001c0001t0063g0066 a0001c0001t0065g0115 a0001c0001t0067g0112 a0001c0001t0068g0101 a0001c0001t0069g0129 a0001c0001t0071g0108 a0001c0008t0008g0274 a0001c0008t0015g0074 a0001c0008t0015g0076 a0001c0008t0015g0077 a0001c0008t0015g0144 a0001c0008t0029g0152 a0001c0008t0050g0073 a0001c0008t0073g0078 a0002c0003t0002g0234 a0002c0003t0002g0237 a0002c0003t0004g0199 a0002c0003t0004g0222 a0002c0003t0004g0223 a0002c0003t0004g0248 a0002c0003t0005g0195 a0002c0003t0005g0196 a0002c0003t0005g0201 a0002c0003t0005g0202 a0002c0003t0005g0203 a0002c0003t0005g0204 a0002c0003t0005g0229 a0002c0003t0005g0230 a0002c0003t0005g0233 a0002c0003t0005g0249 a0002c0003t0005g0257 a0002c0003t0012g0177 a0002c0003t0013g0004 a0002c0003t0013g0236 a0002c0003t0013g0239 a0002c0003t0013g0240 a0002c0003t0013g0253 a0002c0003t0027g0235 a0002c0003t0036g0022 a0002c0003t0039g0170 a0002c0003t0041g0169 a0002c0003t0090g0035 a0002c0003t0097g0256 a0002c0003t0098g0171 a0002c0003t0101g0178 a0002c0003t0103g0194 a0002c0003t0107g0186 a0002c0004t0008g0213 a0002c0004t0008g0270 a0002c0004t0008g0271 a0002c0004t0008g0272 a0002c0004t0009g0042 a0002c0004t0009g0185 a0002c0004t0009g0187 a0002c0004t0009g0188 a0002c0004t0009g0190 a0002c0004t0009g0225 a0002c0004t0009g0251 a0002c0004t0009g0262 a0002c0004t0014g0018 a0002c0004t0014g0179 a0002c0004t0014g0211 a0002c0004t0014g0212 a0002c0004t0014g0258 a0002c0004t0037g0228 a0002c0004t0037g0247 a0002c0004t0038g0020 a0002c0004t0077g0226 a0002c0004t0078g0018 a0002c0004t0081g0227 a0002c0024t0108g0250 a0002c0026t0087g0198 a0003c0002t0001g0021 a0003c0002t0001g0189 a0003c0002t0001g0214 a0003c0002t0002g0209 a0003c0002t0002g0264 a0003c0002t0002g0275 a0003c0002t0002g0282 a0003c0002t0002g0283 a0003c0002t0002g0284 a0003c0002t0002g0290 a0003c0002t0004g0172 a0003c0002t0004g0208 a0003c0002t0004g0266 a0003c0002t0004g0267 a0003c0002t0004g0278 a0003c0002t0004g0286 a0003c0002t0005g0224 a0003c0002t0010g0205 a0003c0002t0018g0015 a0003c0002t0018g0158 a0003c0002t0018g0159 a0003c0002t0019g0063 a0003c0002t0019g0157 a0003c0002t0019g0163 a0003c0002t0019g0165 a0003c0002t0021g0149 a0003c0002t0021g0150 a0003c0002t0021g0151 a0003c0002t0026g0041 a0003c0002t0026g0164 a0003c0002t0027g0280 a0003c0002t0039g0279 a0003c0002t0064g0146 a0003c0002t0075g0160 a0003c0002t0076g0238 a0003c0002t0089g0191 a0003c0002t0104g0216 a0003c0002t0106g0162 a0003c0014t0043g0217 a0003c0017t0007g0014 a0003c0021t0007g0030 a0003c0022t0014g0261 a0004c0006t0024g0043 a0004c0006t0024g0263 a0004c0006t0024g0289 a0004c0006t0025g0277 a0004c0006t0083g0062 a0005c0007t0006g0006 a0005c0007t0006g0013 a0005c0007t0006g0055 a0005c0007t0006g0109 a0005c0007t0006g0127 a0005c0007t0006g0131 a0005c0007t0006g0148 a0005c0007t0052g0013 a0005c0007t0053g0155 a0006c0005t0002g0245 a0006c0005t0002g0260 a0006c0005t0004g0023 a0006c0005t0004g0218 a0006c0005t0004g0219 a0006c0005t0004g0221 a0006c0005t0004g0244 a0006c0005t0004g0259 a0006c0005t0027g0220 a0006c0005t0041g0243 a0006c0005t0088g0246 a0007c0009t0022g0005 a0007c0009t0022g0032 a0007c0009t0028g0033 a0007c0009t0028g0034 a0007c0009t0049g0031 a0007c0020t0061g0029 a0008c0016t0044g0192 a0008c0016t0044g0193 a0008c0018t0002g0174 a0009c0012t0023g0026 a0009c0012t0023g0027 a0009c0012t0023g0028 a0009c0012t0072g0024 a0011c0023t0084g0206 a0012c0031t0045g0025 a0015c0028t0043g0291 a0016c0030t0046g0083 a0017c0019t0109g0215 a0018c0027t0005g0232	260	316	0.8228	0	c.141 others(6): Show c.1412-8C>T		ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding	9/12					chr2	TogoVar
ABHD11_chr7_73731094_73743802	73737559	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02630.hp1 HG02647.hp1 HG03486.hp2 others(2): Show HG02630.hp1 HG02647.hp1 HG03486.hp2 HG06807.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	5	426	0.0117	0	c.435 others(5): Show c.435+3G>A		ABHD11	ENSG00000106077.19	transcript	ENST00000222800.8	protein_coding	3/5					chr7	TogoVar
ABHD11_chr7_73731094_73743802	73738466	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00642.hp2 HG01106.hp2 HG01261.hp1 HG00642.hp2 HG01106.hp2 HG01261.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0011 a0001c0002t0002g0011	3	426	0.0070	0	c.126 others(5): Show c.126-3C>T		ABHD11	ENSG00000106077.19	transcript	ENST00000222800.8	protein_coding	1/5					chr7	TogoVar
ABHD12B_chr14_50867053_50909970	50904066	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp2 HG00423.hp2 HG00438.hp2 others(128): Show HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00642.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01243.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02523.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02886.hp2 HG02970.hp2 HG03098.hp2 HG03486.hp1 HG03516.hp1 HG03710.hp1 HG03927.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18522.hp2 NA18612.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18961.hp2 NA18964.hp2 NA18966.hp2 NA18968.hp1 NA18971.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18984.hp1 NA18988.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19004.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp2 NA19058.hp1 NA19062.hp1 NA19065.hp2 NA19066.hp1 NA19077.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20905.hp1	a0002 a0005 a0008 others(1): Show a0002 a0005 a0008 a0009	a0002c0002 a0002c0004 a0005c0008 others(2): Show a0002c0002 a0002c0004 a0005c0008 a0008c0017 a0009c0016	a0002c0002t0002 a0002c0002t0005 a0002c0002t0006 others(9): Show a0002c0002t0002 a0002c0002t0005 a0002c0002t0006 a0002c0002t0011 a0002c0002t0012 a0002c0004t0002 a0002c0004t0005 a0002c0004t0006 a0002c0004t0010 a0005c0008t0002 a0008c0017t0006 a0009c0016t0002	a0002c0002t0002g0001 a0002c0002t0002g0003 a0002c0002t0002g0009 others(120): Show a0002c0002t0002g0001 a0002c0002t0002g0003 a0002c0002t0002g0009 a0002c0002t0002g0020 a0002c0002t0002g0029 a0002c0002t0002g0033 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0048 a0002c0002t0002g0051 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0064 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0077 a0002c0002t0002g0081 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0086 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0102 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0108 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0121 a0002c0002t0002g0126 a0002c0002t0002g0129 a0002c0002t0002g0134 a0002c0002t0002g0136 a0002c0002t0002g0139 a0002c0002t0002g0161 a0002c0002t0002g0163 a0002c0002t0002g0195 a0002c0002t0002g0199 a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0002t0002g0203 a0002c0002t0002g0208 a0002c0002t0002g0226 a0002c0002t0002g0229 a0002c0002t0002g0232 a0002c0002t0002g0248 a0002c0002t0002g0249 a0002c0002t0002g0250 a0002c0002t0002g0257 a0002c0002t0002g0258 a0002c0002t0002g0259 a0002c0002t0002g0267 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0276 a0002c0002t0002g0280 a0002c0002t0002g0297 a0002c0002t0002g0301 a0002c0002t0002g0302 a0002c0002t0002g0310 a0002c0002t0002g0313 a0002c0002t0002g0319 a0002c0002t0002g0320 a0002c0002t0002g0327 a0002c0002t0002g0330 a0002c0002t0002g0335 a0002c0002t0002g0345 a0002c0002t0002g0346 a0002c0002t0002g0348 a0002c0002t0002g0350 a0002c0002t0002g0355 a0002c0002t0005g0022 a0002c0002t0005g0024 a0002c0002t0005g0153 a0002c0002t0005g0170 a0002c0002t0005g0171 a0002c0002t0005g0179 a0002c0002t0005g0217 a0002c0002t0005g0244 a0002c0002t0005g0245 a0002c0002t0006g0317 a0002c0002t0011g0175 a0002c0002t0012g0214 a0002c0004t0002g0008 a0002c0004t0002g0015 a0002c0004t0002g0059 a0002c0004t0002g0088 a0002c0004t0002g0089 a0002c0004t0002g0090 a0002c0004t0002g0122 a0002c0004t0002g0127 a0002c0004t0002g0147 a0002c0004t0002g0204 a0002c0004t0002g0225 a0002c0004t0002g0240 a0002c0004t0002g0269 a0002c0004t0002g0270 a0002c0004t0002g0279 a0002c0004t0002g0282 a0002c0004t0002g0294 a0002c0004t0002g0336 a0002c0004t0002g0351 a0002c0004t0002g0354 a0002c0004t0005g0071 a0002c0004t0006g0023 a0002c0004t0006g0169 a0002c0004t0006g0228 a0002c0004t0010g0205 a0005c0008t0002g0010 a0005c0008t0002g0149 a0005c0008t0002g0150 a0005c0008t0002g0151 a0005c0008t0002g0152 a0005c0008t0002g0178 a0005c0008t0002g0221 a0005c0008t0002g0242 a0005c0008t0002g0283 a0005c0008t0002g0285 a0005c0008t0002g0305 a0005c0008t0002g0321 a0008c0017t0006g0224 a0009c0016t0002g0266	131	374	0.3503	0	c.943 others(5): Show c.943-8G>C		ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding	11/12					chr14	TogoVar
ABHD14A_chr3_51970064_51986196	51977863	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp2 HG00423.hp2 HG00438.hp2 others(43): Show HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp2 HG01074.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG02071.hp1 HG02083.hp1 HG02135.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02723.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03209.hp1 HG03471.hp2 HG03516.hp1 HG03540.hp1 HG03669.hp1 HG04228.hp2 NA18522.hp2 NA18906.hp1 NA18940.hp2 NA18951.hp1 NA18959.hp1 NA18967.hp1 NA18973.hp2 NA19000.hp1 NA19054.hp1 NA19079.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0007 a0001c0001 a0002c0002 a0006c0007	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0006c0007t0001	a0001c0001t0001g0003 a0001c0001t0001g0031 a0002c0002t0001g0010 others(10): Show a0001c0001t0001g0003 a0001c0001t0001g0031 a0002c0002t0001g0010 a0002c0002t0002g0006 a0002c0002t0002g0007 a0002c0002t0002g0009 a0002c0002t0002g0014 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0037 a0006c0007t0001g0036	46	342	0.1345	0	c.70- others(4): Show c.70-8C>T		ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding	1/4					chr3	TogoVar
ABHD14B_chr3_51963515_51979049	51968517	T T	C C	splice_region_variant splice_region_variant	LOW	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0048 a0001c0001t0010g0048	1	322	0.0031	0	c.90 others(4): Show c.909A>G		ABHD14B	ENSG00000114779.20	transcript	ENST00000361143.10	protein_coding	4/4					chr3	TogoVar
ABHD16A_chr6_31681955_31708324	31686955	T T	A A	splice_region_variant splice_region_variant	LOW	HG00140.hp2 HG00323.hp2 HG00408.hp1 others(183): Show HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01074.hp1 HG01106.hp1 HG01109.hp1 HG01168.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18949.hp1 NA18953.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18967.hp1 NA18968.hp1 NA18970.hp1 NA18973.hp2 NA18979.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18990.hp1 NA18992.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp2 NA19005.hp2 NA19006.hp2 NA19010.hp1 NA19054.hp1 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19072.hp2 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0012 a0004c0008	a0001c0001t0002 a0001c0001t0005 a0001c0003t0002 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0003t0002 a0001c0004t0002 a0001c0012t0002 a0004c0008t0002	a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0010 others(83): Show a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0010 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0069 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0005g0081 a0001c0003t0002g0005 a0001c0003t0002g0024 a0001c0003t0002g0025 a0001c0003t0002g0040 a0001c0003t0002g0070 a0001c0003t0002g0071 a0001c0003t0002g0072 a0001c0003t0002g0073 a0001c0003t0002g0074 a0001c0003t0002g0075 a0001c0003t0002g0076 a0001c0003t0002g0113 a0001c0003t0002g0160 a0001c0004t0002g0007 a0001c0004t0002g0047 a0001c0004t0002g0104 a0001c0004t0002g0105 a0001c0012t0002g0101 a0004c0008t0002g0097	186	416	0.4471	0	c.25 others(4): Show c.257A>T		ABHD16A	ENSG00000204427.12	transcript	ENST00000395952.8	protein_coding	20/20					chr6	TogoVar
ABHD16A_chr6_31681955_31708324	31687904	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp2 HG00597.hp2 HG02027.hp2 HG00408.hp2 HG00597.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	3	416	0.0072	0	c.137 others(6): Show c.1371-4G>A		ABHD16A	ENSG00000204427.12	transcript	ENST00000395952.8	protein_coding	16/19					chr6	TogoVar
ABHD16A_chr6_31681955_31708324	31690606	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp1 HG02723.hp2 HG02809.hp2 HG01884.hp1 HG02723.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	3	416	0.0072	0	c.844 others(5): Show c.844-4C>T		ABHD16A	ENSG00000204427.12	transcript	ENST00000395952.8	protein_coding	9/19					chr6	TogoVar
ABHD16A_chr6_31681955_31708324	31691688	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp2 HG02486.hp1 HG02818.hp1 others(6): Show HG01891.hp2 HG02486.hp1 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02965.hp2 HG03471.hp1 HG03486.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0045 a0001c0001t0002g0106 others(2): Show a0001c0001t0002g0019 a0001c0001t0002g0045 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0109	9	416	0.0216	0	c.742 others(5): Show c.742-8G>A		ABHD16A	ENSG00000204427.12	transcript	ENST00000395952.8	protein_coding	8/19					chr6	TogoVar
ABHD18_chr4_127960406_128044953	127965607	G G	GT GT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02109.hp2 HG02257.hp1 HG02451.hp1 others(8): Show HG02109.hp2 HG02257.hp1 HG02451.hp1 HG02630.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG03540.hp2 HG03579.hp2 HG06807.hp1 NA18906.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0022 a0001c0001t0035 a0001c0001t0036 others(3): Show a0001c0001t0022 a0001c0001t0035 a0001c0001t0036 a0001c0001t0062 a0001c0001t0065 a0003c0003t0058	a0001c0001t0022g0337 a0001c0001t0022g0339 a0001c0001t0022g0340 others(8): Show a0001c0001t0022g0337 a0001c0001t0022g0339 a0001c0001t0022g0340 a0001c0001t0022g0341 a0001c0001t0035g0336 a0001c0001t0035g0343 a0001c0001t0036g0335 a0001c0001t0036g0342 a0001c0001t0062g0338 a0001c0001t0065g0334 a0003c0003t0058g0344	11	342	0.0322	1	c.-18 others(6): Show c.-18+2dupT		ABHD18	ENSG00000164074.17	transcript	ENST00000645843.2	protein_coding	1/12				INFO_REALIGN_3_PRIME	chr4	TogoVar
ABHD1_chr2_27118815_27135812	27128601	G G	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18945.hp2 NA18945.hp2	a0010 a0010	a0010c0006 a0010c0006	a0010c0006t0001 a0010c0006t0001	a0010c0006t0001g0004 a0010c0006t0001g0004	1	398	0.0025	0	c.275 others(3): Show c.275G>C	p.Ser others(5): Show p.Ser92Thr	ABHD1	ENSG00000143994.14	transcript	ENST00000316470.9	protein_coding	2/9	409/1420	275/1218	92/405		chr2	TogoVar
ABHD1_chr2_27118815_27135812	27129318	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18963.hp1 NA18963.hp1	a0011 a0011	a0011c0007 a0011c0007	a0011c0007t0001 a0011c0007t0001	a0011c0007t0001g0001 a0011c0007t0001g0001	1	398	0.0025	0	c.461 others(3): Show c.461C>A	p.Ala others(6): Show p.Ala154Asp	ABHD1	ENSG00000143994.14	transcript	ENST00000316470.9	protein_coding	4/9	595/1420	461/1218	154/405		chr2	TogoVar
ABHD1_chr2_27118815_27135812	27129927	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18943.hp1 NA18943.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0017 a0009c0013t0001g0017	1	398	0.0025	0	c.791 others(3): Show c.791G>T	p.Arg others(6): Show p.Arg264Leu	ABHD1	ENSG00000143994.14	transcript	ENST00000316470.9	protein_coding	6/9	925/1420	791/1218	264/405		chr2	TogoVar
ABHD1_chr2_27118815_27135812	27130251	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18945.hp2 NA18945.hp2	a0010 a0010	a0010c0006 a0010c0006	a0010c0006t0001 a0010c0006t0001	a0010c0006t0001g0004 a0010c0006t0001g0004	1	398	0.0025	0	c.841 others(3): Show c.841G>A	p.Ala others(6): Show p.Ala281Thr	ABHD1	ENSG00000143994.14	transcript	ENST00000316470.9	protein_coding	8/9	975/1420	841/1218	281/405		chr2	TogoVar
ABHD2_chr15_89083456_89207355	89155360	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp1 HG02922.hp1 NA20129.hp1 HG01109.hp1 HG02922.hp1 NA20129.hp1	a0001 a0001	a0001c0007 a0001c0008 a0001c0009 a0001c0007 a0001c0008 a0001c0009	a0001c0007t0007 a0001c0008t0001 a0001c0009t0012 a0001c0007t0007 a0001c0008t0001 a0001c0009t0012	a0001c0007t0007g0224 a0001c0008t0001g0227 a0001c0009t0012g0028 a0001c0007t0007g0224 a0001c0008t0001g0227 a0001c0009t0012g0028	3	232	0.0129	0	c.371 others(5): Show c.371-7G>C		ABHD2	ENSG00000140526.18	transcript	ENST00000352732.10	protein_coding	4/10					chr15	TogoVar
ABHD2_chr15_89083456_89207355	89193327	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(70): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01081.hp2 HG01099.hp2 HG01167.hp1 HG01256.hp2 HG01361.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp2 HG01952.hp1 HG02040.hp2 HG02055.hp2 HG02129.hp2 HG02258.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02630.hp1 HG02717.hp1 HG02738.hp1 HG02809.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03688.hp1 HG04204.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp2 NA18950.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18965.hp1 NA18971.hp2 NA18975.hp2 NA18978.hp1 NA18981.hp1 NA18984.hp2 NA18990.hp2 NA18992.hp2 NA19002.hp1 NA19005.hp1 NA19012.hp2 NA19043.hp1 NA19065.hp1 NA19089.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(12): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0020 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0045 a0002c0005t0005	a0001c0001t0002g0003 a0001c0001t0002g0025 a0001c0001t0002g0039 others(70): Show a0001c0001t0002g0003 a0001c0001t0002g0025 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0052 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0063 a0001c0001t0002g0071 a0001c0001t0002g0074 a0001c0001t0002g0078 a0001c0001t0002g0093 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0121 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0140 a0001c0001t0002g0150 a0001c0001t0002g0155 a0001c0001t0002g0160 a0001c0001t0002g0168 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0210 a0001c0001t0002g0213 a0001c0001t0002g0218 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0004g0004 a0001c0001t0004g0014 a0001c0001t0004g0017 a0001c0001t0004g0046 a0001c0001t0004g0066 a0001c0001t0004g0084 a0001c0001t0004g0090 a0001c0001t0004g0092 a0001c0001t0004g0151 a0001c0001t0004g0219 a0001c0001t0004g0226 a0001c0001t0005g0038 a0001c0001t0005g0126 a0001c0001t0005g0128 a0001c0001t0005g0129 a0001c0001t0005g0198 a0001c0001t0008g0012 a0001c0001t0008g0083 a0001c0001t0008g0100 a0001c0001t0008g0231 a0001c0001t0008g0232 a0001c0001t0009g0026 a0001c0001t0009g0082 a0001c0001t0009g0143 a0001c0001t0009g0162 a0001c0001t0009g0177 a0001c0001t0011g0008 a0001c0001t0011g0013 a0001c0001t0011g0033 a0001c0001t0011g0036 a0001c0001t0014g0015 a0001c0001t0014g0060 a0001c0001t0014g0158 a0001c0001t0020g0059 a0001c0001t0020g0103 a0001c0001t0035g0142 a0001c0001t0036g0135 a0001c0001t0037g0175 a0001c0001t0038g0068 a0001c0001t0039g0079 a0001c0001t0045g0167 a0002c0005t0005g0113	73	232	0.3147	0	c.108 others(6): Show c.1081+8T>C		ABHD2	ENSG00000140526.18	transcript	ENST00000352732.10	protein_coding	10/10					chr15	TogoVar
ABHD3_chr18_21645901_21709774	21704501	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01952.hp2 HG02451.hp1 HG02559.hp1 others(7): Show HG01952.hp2 HG02451.hp1 HG02559.hp1 HG02922.hp1 HG03041.hp2 HG03130.hp1 HG03471.hp1 HG03486.hp2 NA19030.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 others(3): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0017 a0001c0003t0011	a0001c0001t0005g0276 a0001c0001t0005g0277 a0001c0001t0007g0285 others(7): Show a0001c0001t0005g0276 a0001c0001t0005g0277 a0001c0001t0007g0285 a0001c0001t0007g0286 a0001c0001t0007g0287 a0001c0001t0010g0274 a0001c0001t0010g0275 a0001c0001t0011g0289 a0001c0001t0017g0284 a0001c0003t0011g0288	10	302	0.0331	0	c.162 others(5): Show c.162+3G>A		ABHD3	ENSG00000158201.10	transcript	ENST00000289119.7	protein_coding	1/8					chr18	TogoVar
ABHD4_chr14_22593300_22617963	22612377	TAAAATTG others(2590): Show TAAAATTGCTCTGATCACTGGTGGTGCTGAATTCGCAACAGCCTGTGTGA TGCCTGAGAGAAGGGAGTCCTGAGGGTTGCCTGCCTACCCACGACTCCTT CTCCTTTTAGTGTGGCGTTTGCCCGCTAGACCCAGCCCAGAGTCCAGGTC AGCACAGGCCCTCTCAGCCAACCACTCATGACAAATGAGGAGTCGAGATC CACAGTGTGGATGGGGCAAGCCCCAGTTCACAGTAGAGAGGTGGAACTTA GTACTTCCTGCTGCCCATTAGACACCCTTTCTTCCTAAGTTCAAGGGAAG CCCACACATGTACTGCTCCCTGCATCCTGCTCTAACTTCCTCTCATCCTC TGGATCTCAGCTCAAATATTCCTTATGCAGAGATGCCTTCCCCTGATTCC CTAAACTAGACTCGGACCCCTCTGTTCTGCATCTCTGTGGCATATCATCT GCCCCTTTTGTAAAACTTATAAACTTGTGGTTACTTGTTTAGCGTCTCTT TCCTCCCCAGACCATAAGCAACATAAAGACAAAGGGTACATCTAGCACAT AGTTCGTGTTCAATAAATGTTTGTTTTCATCATGCCACGGGAAGTGAGAT ATACCAAGTATTCAAAAAAGTGTTCAAATCATTACTAACAGTGCTTGCTC TGTGCTGGCTGAGTCCAGCTGGGCCCAGAATTCCACGGTTCTAAATGGCG CATATTCCATGTGCATAGGCTGATTGAAAATGTATTAAACCTAAATTTTA AAAAAAAAGCACATGATACTACACATGTCATGATGAATGAATAGACAGAA CTCCTCCTGAATATAATTACAAAGTTCTGATCCATCTCAGGACCCTGTGT CTTCTCTGAGGATTTTTATAGGGAGGAGAAGGCAGGTATATAGAGCTTAC TACATGCCAACCACTAGGGCTGCAATAGTGAAGAAACAGAGAGTGTCTGC CTTTGTGAGAAATTCCAGTTCACTCAAAGAGATGCACCTAGTCAAAATAT TATGTAAATCAATGTAAAATTGCTAAAGTGCTACCCGTGAGAATTGAGAA AACCTCCTGCAGAAGTGATGGCAGCTGTGCCTGAAGGCAGGACCAGGGAA AGGGGAAGGACTGTCTGGAGAGAGGGGCGACTGCAAAGGCAGGTGGCTGG GAGAGAAGTCTGGTGAGATCAGTAGGGACCAGCTCAGCAGATCCTCTGGC CACATGAAGAATGTTGTGTTCATTCTAAAAAGCAATGGAAGGAAATGAAT GGGGGTCAGGGTGGGGTAGGGAGTGTGACAAAATCAGCCTGAGATTGAAA GAGCCATTCTGGCTGCTCTGTGGAGTTCAGATGAGAGGGGGATGAGAACT TTGAGGCTGCTGCAGTGGTCCAGGCCAGAGCTGATGGTAGTTTGGACTTG GCTAGGGGCTAATGGACACAGAGAGGGGAAAAATGCAAAAGATGCTTAGA TGGTAAAATCTAAAAGACTTAATATCAACACTGCATGACCCTACCACCCT CTTGAAGAACGGGCCAAGTGAGGCAGTGGTTACCAAACCCAGTCACATAA CAAAACAACCTGGGGGTATTTTTTTTTAAATATAGATTCCTGAGCTGTAT TCCCTAGAGTTTGATCTGGTTAACCTGAATGGAGTCTGACCGTGAAATCT ACATTTAAACACATTCCTAGGAGATTCTGGTGCCCTGTGTCTGCAGGAAC TGGTCTAAGGGACTCTGTCTCTGACATTTGACCCAGAAGGCTGGGTAGAG TAGGGCCTGTGCCCCTGAGAGTTCATTCTGCTTGCTCCAGAATCACTTTT TTTTTTTGGAGGTAGCACAACATGCTGATCTGCTTTTTCCAACTCAACAC GAGGCAAACACATTCTTCAGGAGCAGACGCAAGAAGAGTCTGAGAAAGGT CACCCAGAGTCCCCTGTTTATACTACATGGTCTGCACGCATGGGCACAAG CCAGCACGCAGACACACACCCCATCTGACAGGAACATTCCTAACATTCCA CTAGGTGGGACTAAGAAATTACTATGAACATTCTACCCAATCAGCACAGT TTCTGGGTGGGCACTAAGGATTTATGGTGACAGTTTGAACCATAAATCCA GGCTCCTCAAATGCCTAGCAGTTTAAAAGGAGAGATTCCACAGACAGACA TTAAAAGGACTGTGACTCAACTTAAGACCCAGGTGGTACTGCAGTATTCA GCGACTAGCAGAAAATGTGCTAAATTTAACTTCCTCCTCGGTATAGACAC CAAAGTATGTGTGCTAAAAATGTAGTCTGGTTTCATTGCCAAAACGGTGG TGAAATCTTGATGAGTACCTCTTTCCATTCTGATCCATGACCCTGCAGGT ACAGTTCATGGCCAGATAGAAAAGACTCCTACTCTTTTTTTTTTTTTTTT TTTTTTCACTCTGTTGCCCAGGCTGGAATGCAATGGTGCAGTCTCGGCTC GCTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCC TGAGTAACTGGGACCACAGGCACCCGCCACCATGCCCAGCTAATTTTTGT ATTTTTAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGGTCTCGA	T T	splice_region_variant splice_region_variant	LOW	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0041 a0001c0001t0011g0041	1	422	0.0024	-2597	c.14 others(11): Show c.1430_*4026del		ABHD4	ENSG00000100439.11	transcript	ENST00000428304.7	protein_coding	7/7					chr14	TogoVar
ABHD5_chr3_43685938_43727725	43722725	A A	G G	splice_region_variant splice_region_variant	LOW	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0108 a0001c0001t0032g0108	1	284	0.0035	0	c.41 others(5): Show c.4193A>G		ABHD5	ENSG00000011198.10	transcript	ENST00000644371.2	protein_coding	7/7					chr3	TogoVar
ABHD6_chr3_58232792_58299734	58274820	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03453.hp2 NA18906.hp1 HG03453.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0248 a0001c0001t0008g0253 a0001c0001t0008g0248 a0001c0001t0008g0253	2	300	0.0067	0	c.681 others(5): Show c.681+5C>T		ABHD6	ENSG00000163686.15	transcript	ENST00000478253.6	protein_coding	7/9					chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100813663	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01884.hp1 HG01891.hp2 HG02486.hp1 others(1): Show HG01884.hp1 HG01891.hp2 HG02486.hp1 NA19030.hp2	a0008 a0017 a0008 a0017	a0008c0023 a0008c0030 a0017c0051 a0008c0023 a0008c0030 a0017c0051	a0008c0023t0002 a0008c0023t0017 a0008c0030t0017 others(1): Show a0008c0023t0002 a0008c0023t0017 a0008c0030t0017 a0017c0051t0010	a0008c0023t0002g0006 a0008c0023t0017g0005 a0008c0030t0017g0153 others(1): Show a0008c0023t0002g0006 a0008c0023t0017g0005 a0008c0030t0017g0153 a0017c0051t0010g0018	4	236	0.0169	0	c.336 others(4): Show c.3362C>A	p.Pro others(7): Show p.Pro1121His	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	45/68	3399/6737	3362/5361	1121/1786		chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100817493	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19054.hp2 NA19054.hp2	a0028 a0028	a0028c0058 a0028c0058	a0028c0058t0006 a0028c0058t0006	a0028c0058t0006g0169 a0028c0058t0006g0169	1	236	0.0042	0	c.309 others(4): Show c.3091G>T	p.Val others(7): Show p.Val1031Phe	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	42/68	3128/6737	3091/5361	1031/1786		chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100838403	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01884.hp2 HG02818.hp1 HG01884.hp2 HG02818.hp1	a0001 a0001	a0001c0028 a0001c0054 a0001c0028 a0001c0054	a0001c0028t0037 a0001c0054t0007 a0001c0028t0037 a0001c0054t0007	a0001c0028t0037g0192 a0001c0054t0007g0007 a0001c0028t0037g0192 a0001c0054t0007g0007	2	236	0.0085	0	c.200 others(4): Show c.2007T>C	p.Pro others(6): Show p.Pro669Pro	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	25/68	2044/6737	2007/5361	669/1786		chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100840069	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00438.hp1 HG01167.hp2 NA18612.hp1 others(3): Show HG00438.hp1 HG01167.hp2 NA18612.hp1 NA18747.hp1 NA19007.hp2 NA19082.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0002c0006 a0002c0045 others(1): Show a0002c0002 a0002c0006 a0002c0045 a0007c0018	a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 others(3): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 a0002c0006t0001 a0002c0045t0003 a0007c0018t0004	a0002c0002t0002g0069 a0002c0002t0003g0079 a0002c0002t0008g0197 others(3): Show a0002c0002t0002g0069 a0002c0002t0003g0079 a0002c0002t0008g0197 a0002c0006t0001g0100 a0002c0045t0003g0145 a0007c0018t0004g0223	6	236	0.0254	0	c.189 others(6): Show c.1897+3A>G		ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	23/67					chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100847603	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02280.hp1 HG02280.hp1	a0016 a0016	a0016c0044 a0016c0044	a0016c0044t0036 a0016c0044t0036	a0016c0044t0036g0174 a0016c0044t0036g0174	1	236	0.0042	0	c.164 others(4): Show c.1647G>A	p.Pro others(6): Show p.Pro549Pro	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	19/68	1684/6737	1647/5361	549/1786		chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100851943	T T	TA TA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp1 HG02559.hp2 HG02886.hp2 others(19): Show HG01891.hp1 HG02559.hp2 HG02886.hp2 HG02895.hp2 NA18612.hp2 NA18747.hp2 NA18941.hp2 NA18947.hp2 NA18957.hp2 NA18966.hp2 NA18967.hp1 NA18990.hp2 NA18998.hp1 NA19007.hp1 NA19009.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp2 NA19086.hp1 NA19087.hp1 NA19090.hp1 NA19091.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0017 a0001c0056 others(4): Show a0001c0001 a0001c0017 a0001c0056 a0002c0002 a0003c0003 a0003c0020 a0005c0014	a0001c0001t0008 a0001c0017t0007 a0001c0056t0025 others(6): Show a0001c0001t0008 a0001c0017t0007 a0001c0056t0025 a0002c0002t0003 a0003c0003t0003 a0003c0003t0006 a0003c0003t0015 a0003c0020t0004 a0005c0014t0016	a0001c0001t0008g0210 a0001c0017t0007g0140 a0001c0056t0025g0132 others(19): Show a0001c0001t0008g0210 a0001c0017t0007g0140 a0001c0056t0025g0132 a0002c0002t0003g0067 a0003c0003t0003g0046 a0003c0003t0003g0048 a0003c0003t0003g0049 a0003c0003t0003g0062 a0003c0003t0003g0064 a0003c0003t0003g0092 a0003c0003t0003g0162 a0003c0003t0006g0168 a0003c0003t0006g0187 a0003c0003t0006g0209 a0003c0003t0006g0214 a0003c0003t0006g0217 a0003c0003t0006g0222 a0003c0003t0006g0236 a0003c0003t0015g0220 a0003c0020t0004g0179 a0003c0020t0004g0211 a0005c0014t0016g0167	22	175	0.1257	1	c.128 others(7): Show c.1286-4dupT		ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	14/67					chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100851943	T T	TAA TAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02055.hp1 HG02258.hp1 HG02280.hp2 others(17): Show HG02055.hp1 HG02258.hp1 HG02280.hp2 HG02486.hp2 HG02615.hp2 HG02622.hp1 HG02818.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03130.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 NA18906.hp2 NA18970.hp1 NA19240.hp1	a0001 a0003 a0006 others(4): Show a0001 a0003 a0006 a0010 a0022 a0024 a0026	a0001c0001 a0001c0004 a0003c0003 others(10): Show a0001c0001 a0001c0004 a0003c0003 a0003c0027 a0003c0041 a0003c0062 a0006c0011 a0006c0042 a0010c0039 a0010c0061 a0022c0040 a0024c0031 a0026c0033	a0001c0001t0007 a0001c0001t0009 a0001c0004t0002 others(15): Show a0001c0001t0007 a0001c0001t0009 a0001c0004t0002 a0001c0004t0009 a0003c0003t0007 a0003c0027t0002 a0003c0041t0011 a0003c0062t0011 a0006c0011t0007 a0006c0011t0012 a0006c0011t0022 a0006c0011t0026 a0006c0042t0011 a0010c0039t0012 a0010c0061t0016 a0022c0040t0029 a0024c0031t0020 a0026c0033t0006	a0001c0001t0007g0134 a0001c0001t0009g0224 a0001c0004t0002g0030 others(17): Show a0001c0001t0007g0134 a0001c0001t0009g0224 a0001c0004t0002g0030 a0001c0004t0002g0032 a0001c0004t0009g0218 a0003c0003t0007g0150 a0003c0027t0002g0009 a0003c0041t0011g0180 a0003c0062t0011g0225 a0006c0011t0007g0157 a0006c0011t0012g0139 a0006c0011t0022g0171 a0006c0011t0022g0173 a0006c0011t0026g0138 a0006c0042t0011g0172 a0010c0039t0012g0151 a0010c0061t0016g0226 a0022c0040t0029g0090 a0024c0031t0020g0045 a0026c0033t0006g0181	20	173	0.1156	2	c.128 others(15): Show c.1286-5_1286-4dupTT		ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	14/67					chr3	TogoVar

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