Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
A1CF_chr10_50794409_50890627	50872946	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02055.hp1 others(7): Show HG01884.hp2 HG01891.hp2 HG02055.hp1 HG02258.hp1 HG02572.hp1 HG02630.hp1 HG03139.hp1 HG06807.hp2 NA19043.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0001t0009 a0001c0001t0043 others(1): Show a0001c0001t0008 a0001c0001t0009 a0001c0001t0043 a0001c0002t0004	a0001c0001t0008g0006 a0001c0001t0008g0102 a0001c0001t0009g0028 others(4): Show a0001c0001t0008g0006 a0001c0001t0008g0102 a0001c0001t0009g0028 a0001c0001t0009g0161 a0001c0001t0009g0162 a0001c0001t0043g0098 a0001c0002t0004g0163	10	117	0.0855	-11	c.-93 others(28): Show c.-93-8877_-93-8867delAAAAAAAAAAA	A1CF	ENSG00000148584.16	transcript	ENST00000373997.8	protein_coding	1/12			chr10	TogoVar
A2ML1_chr12_8817621_8881787	8845863	AATAAATA others(4): Show AATAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0005 a0010c0018t0005	a0010c0018t0005g0023 a0010c0018t0005g0023	1	360	0.0028	-11	c.153 others(28): Show c.1538-212_1538-202delTAAATAAAATA	A2ML1	ENSG00000166535.20	transcript	ENST00000299698.12	protein_coding	13/35		INFO_REALIGN_3_PRIME	chr12	TogoVar
A2M_chr12_9062708_9120919	9094479	AGCCAACT others(4): Show AGCCAACTGATT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02486.hp2 HG02922.hp2 others(6): Show HG02258.hp1 HG02486.hp2 HG02922.hp2 HG02970.hp1 HG03041.hp2 HG03225.hp1 HG03471.hp2 NA19043.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0088 a0001c0001t0002g0089 others(4): Show a0001c0001t0002g0005 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093	9	330	0.0273	-11	c.212 others(28): Show c.2125+483_2125+493delAATCAGTTGGC	A2M	ENSG00000175899.15	transcript	ENST00000318602.12	protein_coding	17/35			chr12	TogoVar
A2M_chr12_9062708_9120919	9120101	TCCTTACT others(4): Show TCCTTACTATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	330	0.0030	-11	c.-42 others(22): Show c.-4263_-4253delGTATAGTAAGG	A2M	ENSG00000175899.15	transcript	ENST00000318602.12	protein_coding		4183		chr12	TogoVar
A3GALT2_chr1_33301766_33326098	33308750	GTTTTTTT others(4): Show GTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp1 HG02486.hp1 others(8): Show HG01243.hp1 HG01891.hp1 HG02486.hp1 HG02572.hp1 HG02622.hp2 HG02809.hp2 HG02895.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0021 others(6): Show a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0038 a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0092	11	210	0.0524	-11	c.336 others(28): Show c.336-1308_336-1298delAAAAAAAAAAA	A3GALT2	ENSG00000184389.9	transcript	ENST00000442999.3	protein_coding	4/4			chr1	TogoVar
A3GALT2_chr1_33301766_33326098	33313175	GTTTTTTT others(4): Show GTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03927.hp1 HG03017.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	2	54	0.0370	-11	c.24- others(24): Show c.24-296_24-286delAAAAAAAAAAA	A3GALT2	ENSG00000184389.9	transcript	ENST00000442999.3	protein_coding	1/4			chr1	TogoVar
A4GALT_chr22_42687121_42725870	42714274	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0235 a0001c0001t0002g0235	1	124	0.0081	-11	c.-18 others(30): Show c.-188+6512_-188+6522delTTTTTTTTTTT	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
A4GALT_chr22_42687121_42725870	42722157	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00408.hp1 others(157): Show HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01993.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02965.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03491.hp1 HG03669.hp1 HG03688.hp1 HG03942.hp1 HG04199.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19001.hp2 NA19002.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19030.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19089.hp2 NA20752.hp1 NA20805.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0009 others(5): Show a0001c0001 a0001c0002 a0001c0009 a0001c0011 a0002c0003 a0002c0008 a0003c0004 a0004c0005	a0001c0001t0002 a0001c0001t0004 a0001c0001t0019 others(15): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0019 a0001c0001t0022 a0001c0001t0026 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0009 a0001c0009t0013 a0001c0011t0004 a0002c0003t0001 a0002c0003t0004 a0002c0003t0008 a0002c0008t0001 a0003c0004t0006 a0004c0005t0010	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 others(152): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0090 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0098 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0117 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0227 a0001c0001t0004g0288 a0001c0001t0004g0289 a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0292 a0001c0001t0004g0294 a0001c0001t0004g0295 a0001c0001t0004g0296 a0001c0001t0004g0297 a0001c0001t0004g0298 a0001c0001t0004g0299 a0001c0001t0019g0210 a0001c0001t0022g0114 a0001c0001t0026g0174 a0001c0002t0002g0199 a0001c0002t0004g0091 a0001c0002t0004g0093 a0001c0002t0004g0097 a0001c0002t0005g0092 a0001c0002t0005g0096 a0001c0002t0005g0099 a0001c0002t0005g0100 a0001c0002t0005g0101 a0001c0002t0005g0102 a0001c0002t0005g0103 a0001c0002t0005g0115 a0001c0002t0005g0116 a0001c0002t0005g0119 a0001c0002t0005g0131 a0001c0002t0005g0136 a0001c0002t0005g0143 a0001c0002t0005g0150 a0001c0002t0005g0152 a0001c0002t0005g0173 a0001c0002t0005g0186 a0001c0002t0005g0201 a0001c0002t0005g0202 a0001c0002t0005g0203 a0001c0002t0005g0204 a0001c0002t0005g0205 a0001c0002t0005g0206 a0001c0002t0005g0217 a0001c0002t0006g0006 a0001c0002t0006g0111 a0001c0002t0006g0118 a0001c0002t0006g0151 a0001c0002t0006g0166 a0001c0002t0006g0171 a0001c0002t0006g0213 a0001c0002t0006g0215 a0001c0002t0006g0219 a0001c0002t0006g0220 a0001c0002t0009g0124 a0001c0009t0013g0113 a0001c0011t0004g0293 a0002c0003t0001g0005 a0002c0003t0001g0088 a0002c0003t0001g0123 a0002c0003t0001g0125 a0002c0003t0001g0126 a0002c0003t0001g0127 a0002c0003t0001g0142 a0002c0003t0001g0146 a0002c0003t0001g0160 a0002c0003t0001g0175 a0002c0003t0001g0176 a0002c0003t0001g0185 a0002c0003t0001g0200 a0002c0003t0004g0140 a0002c0003t0008g0013 a0002c0008t0001g0112 a0003c0004t0006g0221 a0003c0004t0006g0222 a0003c0004t0006g0224 a0003c0004t0006g0225 a0003c0004t0006g0226 a0004c0005t0010g0089	160	221	0.7240	-11	c.-15 others(22): Show c.-1559_-1549delTTTTTTTTTTT	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding		1288		chr22	TogoVar
A4GALT_chr22_42687121_42725870	42722223	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 NA18955.hp1 NA19062.hp1 others(1): Show HG01516.hp1 NA18955.hp1 NA19062.hp1 NA19068.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0002 a0001c0002t0004 a0001c0002t0005 others(1): Show a0001c0001t0002 a0001c0002t0004 a0001c0002t0005 a0003c0004t0006	a0001c0001t0002g0198 a0001c0002t0004g0091 a0001c0002t0005g0152 others(1): Show a0001c0001t0002g0198 a0001c0002t0004g0091 a0001c0002t0005g0152 a0003c0004t0006g0222	4	67	0.0597	-11	c.-16 others(22): Show c.-1625_-1615delAAAAAAAAAAA	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding		1354		chr22	TogoVar
AACS_chr12_125060435_125148316	125095020	TGTGTCTG others(4): Show TGTGTCTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0140 a0002c0002t0001g0140	1	362	0.0028	-11	c.570 others(28): Show c.570+3498_570+3508delGTGTCTGTGTG	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	5/17			chr12	TogoVar
AACS_chr12_125060435_125148316	125103987	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02602.hp2 HG01106.hp2 HG02602.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0197 a0002c0002t0001g0265 a0001c0001t0002g0197 a0002c0002t0001g0265	2	18	0.1111	-11	c.767 others(26): Show c.767+928_767+938delAAAAAAAAAAA	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
AADACL3_chr1_12711110_12733760	12713665	TCACTGCC others(4): Show TCACTGCCCCAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG03927.hp2 HG01516.hp2 HG01517.hp2 HG03927.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0008 a0001c0012t0008	a0001c0012t0008g0032 a0001c0012t0008g0062 a0001c0012t0008g0032 a0001c0012t0008g0062	3	430	0.0070	-11	c.-25 others(22): Show c.-2511_-2501delCACTGCCCCAA	AADACL3	ENSG00000188984.12	transcript	ENST00000359318.8	protein_coding		2444		chr1	TogoVar
AAGAB_chr15_67195667_67259661	67196162	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00735.hp1 HG00735.hp2 others(8): Show HG00558.hp1 HG00735.hp1 HG00735.hp2 HG01168.hp2 HG01169.hp1 HG02135.hp1 HG03486.hp1 NA18945.hp2 NA18960.hp2 NA19072.hp1 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0002 a0002c0002t0003 a0001c0001t0004 a0002c0002t0002 a0002c0002t0003	a0001c0001t0004g0011 a0002c0002t0002g0087 a0002c0002t0003g0001 others(6): Show a0001c0001t0004g0011 a0002c0002t0002g0087 a0002c0002t0003g0001 a0002c0002t0003g0024 a0002c0002t0003g0025 a0002c0002t0003g0027 a0002c0002t0003g0156 a0002c0002t0003g0157 a0002c0002t0003g0203	11	24	0.4583	-11	c.66 others(22): Show c.6648_*6658delTTTTTTTTTTT	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding		4504		chr15	TogoVar
AAK1_chr2_69452997_69648739	69456268	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0082	a0001c0001t0082g0133 a0001c0001t0082g0133	1	160	0.0063	-11	c.19 others(24): Show c.19590_*19600delAAAAAAAAAAA	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding		1728		chr2	TogoVar
AAMDC_chr11_77816144_77877352	77831862	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02630.hp2 HG01074.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0027 a0001c0002t0001g0028	2	192	0.0104	-11	c.-18 others(30): Show c.-18-10600_-18-10590delTTTTTTTTTTT	AAMDC	ENSG00000087884.16	transcript	ENST00000393427.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
AAR2_chr20_36231478_36261933	36258857	AAAAAAAA others(4): Show AAAAAAAAAAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02559.hp2 HG02572.hp2 others(8): Show HG02451.hp1 HG02559.hp2 HG02572.hp2 HG02630.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03225.hp1 NA18522.hp2 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0002t0004 a0001c0004t0005 a0001c0002t0002 a0001c0002t0004 a0001c0004t0005	a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0161 others(5): Show a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0161 a0001c0002t0004g0030 a0001c0002t0004g0031 a0001c0002t0004g0112 a0001c0004t0005g0034 a0001c0004t0005g0127	11	296	0.0372	-11	c.31 others(22): Show c.3113_*3123delAAAAAAAAAAC	AAR2	ENSG00000131043.13	transcript	ENST00000320849.9	protein_coding		1925		chr20	TogoVar
AARS1_chr16_70247298_70294506	70248771	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	181	0.0055	-11	c.39 others(22): Show c.3939_*3949delAAAAAAAAAAA	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding		3526		chr16	TogoVar
AARS1_chr16_70247298_70294506	70262967	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0161 a0001c0003t0001g0161	1	77	0.0130	-11	c.149 others(28): Show c.1493-454_1493-444delTTTTTTTTTTT	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	11/20			chr16	TogoVar
AARS1_chr16_70247298_70294506	70269322	GAAAAAAA others(4): Show GAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0336 a0002c0004t0001g0336	1	38	0.0263	-11	c.962 others(26): Show c.962+285_962+295delTTTTTTTTTTT	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	7/20			chr16	TogoVar
AARS1_chr16_70247298_70294506	70287254	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	70	0.0143	-11	c.-22 others(28): Show c.-22+2156_-22+2166delTTTTTTTTTTT	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	1/20			chr16	TogoVar
AARSD1_chr17_42945526_42969454	42965117	TAAAAAAA others(4): Show TAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG02486.hp2 HG02886.hp2 HG01109.hp2 HG02486.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0045 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0045	3	23	0.1304	-11	c.-68 others(20): Show c.-688_-678delTTTTTTTTTTT	AARSD1	ENSG00000266967.7	transcript	ENST00000427569.7	protein_coding		664		chr17	TogoVar
AARSD1_chr17_42945526_42969454	42965425	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00738.hp1 HG01261.hp1 others(7): Show HG00639.hp2 HG00738.hp1 HG01261.hp1 HG01261.hp2 HG02273.hp2 NA18977.hp2 NA18979.hp2 NA19077.hp2 NA19091.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0060 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0146	10	146	0.0685	-11	c.-99 others(20): Show c.-996_-986delTTTTTTTTTTT	AARSD1	ENSG00000266967.7	transcript	ENST00000427569.7	protein_coding		972		chr17	TogoVar
AATF_chr17_36943954_37061871	37009823	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0095 a0003c0005t0001g0095	1	106	0.0094	-11	c.139 others(30): Show c.1399-9165_1399-9155delAAAAAAAAAAA	AATF	ENSG00000275700.6	transcript	ENST00000619387.5	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
AATK_chr17_81112295_81171221	81119125	GGGGCCAG others(4): Show GGGGCCAGGTGA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02258.hp1 others(7): Show HG01167.hp2 HG01169.hp2 HG02258.hp1 HG02723.hp1 HG02886.hp2 HG02970.hp1 HG02970.hp2 HG03453.hp2 NA18949.hp1 NA19070.hp1	a0001 a0009 a0024 others(2): Show a0001 a0009 a0024 a0025 a0036	a0001c0004 a0009c0019 a0009c0025 others(4): Show a0001c0004 a0009c0019 a0009c0025 a0009c0065 a0024c0048 a0025c0070 a0036c0055	a0001c0004t0001 a0009c0019t0004 a0009c0025t0004 others(4): Show a0001c0004t0001 a0009c0019t0004 a0009c0025t0004 a0009c0065t0004 a0024c0048t0004 a0025c0070t0004 a0036c0055t0001	a0001c0004t0001g0044 a0009c0019t0004g0233 a0009c0019t0004g0234 others(7): Show a0001c0004t0001g0044 a0009c0019t0004g0233 a0009c0019t0004g0234 a0009c0019t0004g0235 a0009c0025t0004g0334 a0009c0025t0004g0336 a0009c0065t0004g0232 a0024c0048t0004g0309 a0025c0070t0004g0181 a0036c0055t0001g0093	10	366	0.0273	-11	c.408 others(28): Show c.4084+244_4084+254delTCACCTGGCCC	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	13/13			chr17	TogoVar
AATK_chr17_81112295_81171221	81119140	CCAGGTGA others(4): Show CCAGGTGAGGGT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00438.hp1 others(74): Show HG00140.hp1 HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG01106.hp1 HG01123.hp2 HG01192.hp1 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG02040.hp2 HG02055.hp1 HG02080.hp1 HG02109.hp2 HG02135.hp1 HG02257.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02615.hp2 HG02647.hp2 HG02717.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03669.hp2 HG03834.hp1 HG04115.hp2 HG04184.hp2 HG06807.hp2 NA18747.hp2 NA18906.hp2 NA18943.hp1 NA18945.hp2 NA18952.hp2 NA18966.hp1 NA18967.hp2 NA18970.hp1 NA18982.hp2 NA18983.hp2 NA18986.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19011.hp1 NA19043.hp2 NA19056.hp1 NA19065.hp2 NA19070.hp2 NA19082.hp2 NA19088.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA21309.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0012 a0015 a0034	a0001c0001 a0002c0002 a0003c0007 others(14): Show a0001c0001 a0002c0002 a0003c0007 a0003c0009 a0003c0023 a0003c0027 a0003c0047 a0004c0005 a0005c0006 a0005c0033 a0006c0042 a0006c0056 a0007c0008 a0007c0071 a0012c0016 a0015c0028 a0034c0052	a0001c0001t0001 a0001c0001t0005 a0001c0001t0014 others(17): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0014 a0002c0002t0001 a0003c0007t0001 a0003c0007t0017 a0003c0009t0001 a0003c0023t0001 a0003c0027t0001 a0003c0047t0001 a0004c0005t0005 a0005c0006t0003 a0005c0033t0018 a0006c0042t0001 a0006c0056t0001 a0007c0008t0001 a0007c0071t0001 a0012c0016t0001 a0015c0028t0001 a0034c0052t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(71): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0032 a0001c0001t0001g0087 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0209 a0001c0001t0001g0219 a0001c0001t0001g0237 a0001c0001t0001g0250 a0001c0001t0001g0264 a0001c0001t0001g0301 a0001c0001t0001g0325 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0005g0022 a0001c0001t0005g0023 a0001c0001t0005g0025 a0001c0001t0014g0290 a0002c0002t0001g0030 a0002c0002t0001g0053 a0003c0007t0001g0276 a0003c0007t0001g0318 a0003c0007t0001g0319 a0003c0007t0017g0321 a0003c0009t0001g0155 a0003c0009t0001g0239 a0003c0009t0001g0242 a0003c0009t0001g0243 a0003c0009t0001g0253 a0003c0023t0001g0169 a0003c0027t0001g0277 a0003c0027t0001g0323 a0003c0047t0001g0302 a0004c0005t0005g0021 a0005c0006t0003g0112 a0005c0006t0003g0228 a0005c0006t0003g0261 a0005c0006t0003g0288 a0005c0006t0003g0295 a0005c0033t0018g0324 a0006c0042t0001g0335 a0006c0056t0001g0332 a0007c0008t0001g0117 a0007c0071t0001g0201 a0012c0016t0001g0165 a0012c0016t0001g0167 a0015c0028t0001g0342 a0015c0028t0001g0343 a0034c0052t0001g0162	77	245	0.3143	-11	c.408 others(28): Show c.4084+229_4084+239delACCCTCACCTG	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	13/13			chr17	TogoVar
AATK_chr17_81112295_81171221	81119245	CGGGGCCG others(4): Show CGGGGCCGGGAA	C C	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA19056.hp1 NA18945.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0219 a0001c0001t0001g0032 a0001c0001t0001g0219	2	365	0.0055	-11	c.408 others(28): Show c.4084+124_4084+134delTTCCCGGCCCC	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	13/13			chr17	TogoVar
ABAT_chr16_8669617_8789570	8724735	AAAAAAAA others(4): Show AAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG00639.hp2 others(26): Show HG00621.hp1 HG00621.hp2 HG00639.hp2 HG01071.hp2 HG01168.hp2 HG01175.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01978.hp1 HG02027.hp1 HG02055.hp2 HG02148.hp1 HG02293.hp2 HG03492.hp1 HG03540.hp2 HG03654.hp2 HG03942.hp2 HG04199.hp2 NA18906.hp2 NA18945.hp2 NA18960.hp1 NA18967.hp2 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA19063.hp1 NA19076.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0022 others(5): Show a0001c0001 a0001c0003 a0001c0022 a0002c0002 a0002c0004 a0002c0005 a0002c0009 a0002c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0028 a0001c0001t0047 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0022t0002 a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 a0002c0005t0008 a0002c0009t0002 a0002c0017t0002	a0001c0001t0001g0068 a0001c0001t0001g0104 a0001c0001t0001g0166 others(26): Show a0001c0001t0001g0068 a0001c0001t0001g0104 a0001c0001t0001g0166 a0001c0001t0001g0269 a0001c0001t0001g0278 a0001c0001t0001g0281 a0001c0001t0002g0062 a0001c0001t0002g0152 a0001c0001t0002g0255 a0001c0001t0002g0296 a0001c0001t0003g0253 a0001c0001t0004g0066 a0001c0001t0004g0097 a0001c0001t0005g0294 a0001c0001t0009g0279 a0001c0001t0028g0072 a0001c0001t0047g0309 a0001c0003t0001g0235 a0001c0003t0002g0052 a0001c0003t0003g0069 a0001c0003t0003g0084 a0001c0003t0004g0284 a0001c0022t0002g0257 a0002c0002t0001g0163 a0002c0002t0002g0137 a0002c0004t0001g0019 a0002c0005t0008g0016 a0002c0009t0002g0335 a0002c0017t0002g0038	29	360	0.0806	-11	c.-41 others(30): Show c.-41-10953_-41-10943delCAAAAAAAAAA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8789445	AAACAAAC others(4): Show AAACAAACAAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0268 a0001c0001t0004g0268	1	360	0.0028	-11	c.80 others(22): Show c.8016_*8026delAACAAACAAAC	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding		4876		chr16	TogoVar
ABCA10_chr17_69143007_69233824	69158053	AACAAACA others(4): Show AACAAACAAAAG	A A	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0108 a0004c0004t0003g0108	1	346	0.0029	-11	c.336 others(30): Show c.3364-1141_3364-1131delCTTTTGTTTGT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	27/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69196126	ACGGGGCG others(4): Show ACGGGGCGGCTG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0015 a0015	a0015c0029 a0015c0029	a0015c0029t0014 a0015c0029t0014	a0015c0029t0014g0198 a0015c0029t0014g0198	1	346	0.0029	-11	c.123 others(28): Show c.1234+927_1234+937delCAGCCGCCCCG	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	11/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69210170	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02647.hp2 HG02809.hp1 others(5): Show HG02559.hp2 HG02647.hp2 HG02809.hp1 HG02886.hp1 HG02965.hp2 HG04199.hp1 NA19000.hp2 NA19030.hp2	a0004 a0005 a0004 a0005	a0004c0004 a0004c0006 a0005c0013 others(1): Show a0004c0004 a0004c0006 a0005c0013 a0005c0014	a0004c0004t0003 a0004c0006t0003 a0005c0013t0001 others(1): Show a0004c0004t0003 a0004c0006t0003 a0005c0013t0001 a0005c0014t0001	a0004c0004t0003g0242 a0004c0004t0003g0243 a0004c0004t0003g0279 others(5): Show a0004c0004t0003g0242 a0004c0004t0003g0243 a0004c0004t0003g0279 a0004c0006t0003g0057 a0005c0013t0001g0042 a0005c0013t0001g0052 a0005c0014t0001g0142 a0005c0014t0001g0224	8	183	0.0437	-11	c.100 others(30): Show c.1006+4523_1006+4533delAAAAAAAAAAA	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69210828	ATGCCACA others(4): Show ATGCCACATATT	A A	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0184 a0002c0002t0001g0184	1	346	0.0029	-11	c.100 others(30): Show c.1006+3865_1006+3875delAATATGTGGCA	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69211334	TATATATA others(4): Show TATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01243.hp2 others(6): Show HG01070.hp1 HG01071.hp2 HG01243.hp2 HG02071.hp2 HG02148.hp2 HG02895.hp1 HG03017.hp2 HG03490.hp2 NA20752.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0007 a0004c0004t0003g0077 a0004c0004t0003g0208 others(5): Show a0004c0004t0003g0007 a0004c0004t0003g0077 a0004c0004t0003g0208 a0004c0004t0003g0209 a0004c0004t0003g0210 a0004c0004t0003g0255 a0004c0004t0003g0256 a0004c0004t0003g0303	9	345	0.0261	-11	c.100 others(30): Show c.1006+3359_1006+3369delTATATATATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38			chr17	TogoVar
ABCA12_chr2_214926542_215143626	214963605	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02922.hp2 HG03579.hp2 HG02647.hp1 HG02922.hp2 HG03579.hp2	a0002 a0006 a0016 a0002 a0006 a0016	a0002c0056 a0006c0064 a0016c0037 a0002c0056 a0006c0064 a0016c0037	a0002c0056t0004 a0006c0064t0004 a0016c0037t0004 a0002c0056t0004 a0006c0064t0004 a0016c0037t0004	a0002c0056t0004g0020 a0006c0064t0004g0070 a0016c0037t0004g0023 a0002c0056t0004g0020 a0006c0064t0004g0070 a0016c0037t0004g0023	3	75	0.0400	-11	c.588 others(30): Show c.5884+3232_5884+3242delTTTTTTTTTTT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	39/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	215016582	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02630.hp1 HG02922.hp2 others(2): Show HG02572.hp2 HG02630.hp1 HG02922.hp2 NA19007.hp1 NA19088.hp1	a0001 a0006 a0001 a0006	a0001c0003 a0006c0062 a0006c0063 others(1): Show a0001c0003 a0006c0062 a0006c0063 a0006c0064	a0001c0003t0001 a0006c0062t0004 a0006c0063t0003 others(1): Show a0001c0003t0001 a0006c0062t0004 a0006c0063t0003 a0006c0064t0004	a0001c0003t0001g0033 a0001c0003t0001g0036 a0006c0062t0004g0078 others(2): Show a0001c0003t0001g0033 a0001c0003t0001g0036 a0006c0062t0004g0078 a0006c0063t0003g0079 a0006c0064t0004g0070	5	23	0.2174	-11	c.178 others(28): Show c.1783-930_1783-920delTTTTTTTTTTT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	14/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	215112477	GTTTTTTT others(4): Show GTTTTTTTTGTT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp1 HG02258.hp2 others(17): Show HG01884.hp2 HG02109.hp1 HG02258.hp2 HG02280.hp2 HG02809.hp1 HG02886.hp2 HG02922.hp2 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03490.hp1 HG03516.hp2 NA18522.hp2 NA18962.hp2 NA18971.hp1 NA18981.hp1 NA19007.hp2 NA19070.hp1 NA19090.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0006 a0007 a0015 a0019	a0001c0001 a0001c0003 a0001c0004 others(12): Show a0001c0001 a0001c0003 a0001c0004 a0001c0009 a0001c0010 a0001c0033 a0001c0040 a0002c0013 a0003c0020 a0004c0018 a0004c0059 a0006c0064 a0007c0019 a0015c0055 a0019c0038	a0001c0001t0012 a0001c0003t0001 a0001c0004t0010 others(14): Show a0001c0001t0012 a0001c0003t0001 a0001c0004t0010 a0001c0009t0008 a0001c0009t0010 a0001c0010t0009 a0001c0033t0026 a0001c0040t0008 a0002c0013t0008 a0003c0020t0001 a0003c0020t0008 a0004c0018t0005 a0004c0059t0004 a0006c0064t0004 a0007c0019t0001 a0015c0055t0010 a0019c0038t0008	a0001c0001t0012g0192 a0001c0003t0001g0043 a0001c0004t0010g0198 others(17): Show a0001c0001t0012g0192 a0001c0003t0001g0043 a0001c0004t0010g0198 a0001c0009t0008g0188 a0001c0009t0008g0189 a0001c0009t0010g0187 a0001c0010t0009g0001 a0001c0033t0026g0193 a0001c0040t0008g0186 a0002c0013t0008g0190 a0003c0020t0001g0106 a0003c0020t0008g0197 a0004c0018t0005g0095 a0004c0059t0004g0071 a0006c0064t0004g0070 a0007c0019t0001g0096 a0007c0019t0001g0099 a0007c0019t0001g0100 a0015c0055t0010g0184 a0019c0038t0008g0195	20	186	0.1075	-11	c.70- others(24): Show c.70-798_70-788delAACAAAAAAAA	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	1/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	215133149	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02055.hp1 HG02451.hp1 others(5): Show HG01943.hp1 HG02055.hp1 HG02451.hp1 HG02647.hp1 HG02896.hp2 HG03209.hp1 HG03471.hp2 NA20129.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0005 a0002c0007 a0002c0008 others(4): Show a0001c0005 a0002c0007 a0002c0008 a0002c0013 a0002c0056 a0003c0020 a0005c0024	a0001c0005t0005 a0002c0007t0003 a0002c0008t0004 others(4): Show a0001c0005t0005 a0002c0007t0003 a0002c0008t0004 a0002c0013t0003 a0002c0056t0004 a0003c0020t0003 a0005c0024t0005	a0001c0005t0005g0111 a0002c0007t0003g0017 a0002c0008t0004g0021 others(5): Show a0001c0005t0005g0111 a0002c0007t0003g0017 a0002c0008t0004g0021 a0002c0013t0003g0018 a0002c0013t0003g0019 a0002c0056t0004g0020 a0003c0020t0003g0108 a0005c0024t0005g0093	8	37	0.2162	-11	c.69+ others(26): Show c.69+4980_69+4990delAAAAAAAAAAA	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	1/52			chr2	TogoVar
ABCA13_chr7_48166458_48652497	48172797	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG03654.hp1 HG04204.hp2 others(1): Show HG00741.hp2 HG03654.hp1 HG04204.hp2 NA19010.hp2	a0006 a0008 a0009 others(1): Show a0006 a0008 a0009 a0010	a0006c0005 a0008c0013 a0009c0046 others(1): Show a0006c0005 a0008c0013 a0009c0046 a0010c0016	a0006c0005t0003 a0008c0013t0002 a0009c0046t0002 others(1): Show a0006c0005t0003 a0008c0013t0002 a0009c0046t0002 a0010c0016t0001	a0006c0005t0003g0087 a0008c0013t0002g0089 a0009c0046t0002g0090 others(1): Show a0006c0005t0003g0087 a0008c0013t0002g0089 a0009c0046t0002g0090 a0010c0016t0001g0088	4	9	0.4444	-11	c.69+ others(26): Show c.69+1273_69+1283delAAAAAAAAAAA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	1/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48290940	GAAAAAAA others(4): Show GAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0005 a0005	a0005c0023 a0005c0023	a0005c0023t0003 a0005c0023t0003	a0005c0023t0003g0171 a0005c0023t0003g0171	1	99	0.0101	-11	c.895 others(30): Show c.8955+2880_8955+2890delAAAAAAAAAAA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	20/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48422055	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00741.hp1 others(23): Show HG00408.hp1 HG00544.hp1 HG00741.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01123.hp1 HG01169.hp1 HG01952.hp1 HG01993.hp1 HG02109.hp1 HG02258.hp2 HG02622.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03195.hp2 HG03540.hp2 HG03834.hp1 HG06807.hp2 NA18942.hp1 NA18979.hp2 NA18992.hp1 NA18998.hp2 NA19007.hp2 NA19060.hp1	a0001 a0003 a0004 others(15): Show a0001 a0003 a0004 a0005 a0006 a0012 a0015 a0016 a0023 a0025 a0031 a0034 a0037 a0039 a0045 a0050 a0075 a0083	a0001c0001 a0003c0003 a0003c0004 others(17): Show a0001c0001 a0003c0003 a0003c0004 a0004c0008 a0004c0009 a0005c0007 a0006c0024 a0012c0012 a0015c0019 a0016c0029 a0023c0015 a0025c0085 a0031c0061 a0034c0093 a0037c0042 a0039c0092 a0045c0041 a0050c0080 a0075c0048 a0083c0050	a0001c0001t0001 a0003c0003t0004 a0003c0004t0004 others(19): Show a0001c0001t0001 a0003c0003t0004 a0003c0004t0004 a0004c0008t0004 a0004c0008t0005 a0004c0009t0001 a0005c0007t0002 a0006c0024t0001 a0006c0024t0003 a0012c0012t0002 a0015c0019t0002 a0016c0029t0001 a0023c0015t0004 a0025c0085t0004 a0031c0061t0004 a0034c0093t0002 a0037c0042t0004 a0039c0092t0004 a0045c0041t0004 a0050c0080t0013 a0075c0048t0004 a0083c0050t0004	a0001c0001t0001g0177 a0003c0003t0004g0028 a0003c0003t0004g0034 others(23): Show a0001c0001t0001g0177 a0003c0003t0004g0028 a0003c0003t0004g0034 a0003c0003t0004g0036 a0003c0004t0004g0030 a0004c0008t0004g0166 a0004c0008t0005g0168 a0004c0009t0001g0115 a0005c0007t0002g0129 a0006c0024t0001g0019 a0006c0024t0003g0107 a0012c0012t0002g0056 a0012c0012t0002g0098 a0015c0019t0002g0136 a0015c0019t0002g0175 a0016c0029t0001g0134 a0023c0015t0004g0176 a0025c0085t0004g0008 a0031c0061t0004g0013 a0034c0093t0002g0150 a0037c0042t0004g0074 a0039c0092t0004g0099 a0045c0041t0004g0039 a0050c0080t0013g0158 a0075c0048t0004g0159 a0083c0050t0004g0103	26	43	0.6047	-11	c.124 others(32): Show c.12460-5692_12460-5682delAAAAAAAAAAA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	41/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48497684	TCGCCCAC others(4): Show TCGCCCACCAGC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02280.hp2 HG03669.hp1 others(1): Show HG00735.hp2 HG02280.hp2 HG03669.hp1 NA20752.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0025	a0001c0103 a0002c0065 a0004c0079 others(1): Show a0001c0103 a0002c0065 a0004c0079 a0025c0089	a0001c0103t0006 a0002c0065t0006 a0004c0079t0006 others(1): Show a0001c0103t0006 a0002c0065t0006 a0004c0079t0006 a0025c0089t0012	a0001c0103t0006g0059 a0002c0065t0006g0128 a0004c0079t0006g0147 others(1): Show a0001c0103t0006g0059 a0002c0065t0006g0128 a0004c0079t0006g0147 a0025c0089t0012g0154	4	176	0.0227	-11	c.132 others(32): Show c.13291+8342_13291+8352delGCCCACCAGCC	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	48/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA1_chr9_104776006_104933155	104809248	GACGTGCT others(4): Show GACGTGCTTTGC	G G	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0003 a0004c0008t0003	a0004c0008t0003g0213 a0004c0008t0003g0213	1	316	0.0032	-11	c.427 others(28): Show c.4274+207_4274+217delGCAAAGCACGT	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	30/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104810158	ATATATAT others(4): Show ATATATATATAC	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03579.hp2 HG02965.hp1 HG03579.hp2	a0004 a0008 a0004 a0008	a0004c0112 a0008c0047 a0004c0112 a0008c0047	a0004c0112t0005 a0008c0047t0002 a0004c0112t0005 a0008c0047t0002	a0004c0112t0005g0101 a0008c0047t0002g0300 a0004c0112t0005g0101 a0008c0047t0002g0300	2	316	0.0063	-11	c.417 others(28): Show c.4176-605_4176-595delGTATATATATA	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	29/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104862674	CGGGCCGG others(4): Show CGGGCCGGGCCG	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0031 a0002c0031	a0002c0031t0001 a0002c0031t0001	a0002c0031t0001g0155 a0002c0031t0001g0155	1	282	0.0035	-11	c.422 others(26): Show c.422-885_422-875delCGGCCCGGCCC	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104862702	CCCCCACC others(4): Show CCCCCACCCCCA	C C	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0009 a0001c0035t0009	a0001c0035t0009g0072 a0001c0035t0009g0072	1	311	0.0032	-11	c.422 others(26): Show c.422-913_422-903delTGGGGGTGGGG	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104882028	TAAAAAAA others(4): Show TAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0010 a0010	a0010c0030 a0010c0030	a0010c0030t0022 a0010c0030t0022	a0010c0030t0022g0246 a0010c0030t0022g0246	1	21	0.0476	-11	c.421 others(28): Show c.421+1000_421+1010delTTTTTTTTTTT	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA3_chr16_2270881_2345728	2273503	TGCCTGTA others(4): Show TGCCTGTATCCG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0083 a0001c0002t0001g0083	1	250	0.0040	-11	c.31 others(22): Show c.3160_*3170delCGGATACAGGC	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding		2377		chr16	TogoVar
ABCA3_chr16_2270881_2345728	2316490	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0191 a0001c0001t0002g0191	1	16	0.0625	-11	c.111 others(28): Show c.1111+782_1111+792delTTTTTTTTTTT	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	10/32			chr16	TogoVar
ABCA4_chr1_93987834_94126148	94014181	GGAAAGAA others(4): Show GGAAAGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03130.hp2 HG03453.hp1 others(1): Show HG02976.hp2 HG03130.hp2 HG03453.hp1 NA21309.hp1	a0001 a0041 a0043 others(1): Show a0001 a0041 a0043 a0051	a0001c0055 a0041c0071 a0043c0036 others(1): Show a0001c0055 a0041c0071 a0043c0036 a0051c0103	a0001c0055t0005 a0041c0071t0003 a0043c0036t0003 others(1): Show a0001c0055t0005 a0041c0071t0003 a0043c0036t0003 a0051c0103t0001	a0001c0055t0005g0301 a0041c0071t0003g0032 a0043c0036t0003g0050 others(1): Show a0001c0055t0005g0301 a0041c0071t0003g0032 a0043c0036t0003g0050 a0051c0103t0001g0046	4	304	0.0132	-11	c.546 others(28): Show c.5460+351_5460+361delTTCCTTCTTTC	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	38/49			chr1	TogoVar
ABCA5_chr17_69239311_69332133	69257227	CAGGTGTG others(4): Show CAGGTGTGGTGG	C C	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0177 a0002c0001t0004g0177	1	348	0.0029	-11	c.373 others(28): Show c.3732-955_3732-945delCCACCACACCT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	28/38			chr17	TogoVar

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