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
CHIC2_chr4_54004789_54069605	54062329	T T	TTTTATTT others(9): Show TTTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02486.hp1 HG03471.hp1 others(1): Show HG02257.hp1 HG02486.hp1 HG03471.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 others(1): Show a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0005g0152	4	244	0.0164	16	c.119 others(33): Show c.119+1837_119+1852dupTAAATAAATAAATAAA	CHIC2	ENSG00000109220.11	transcript	ENST00000263921.8	protein_coding	1/5			chr4	TogoVar
CHKA_chr11_68047859_68126388	68125912	G G	GCACACAC others(9): Show GCACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	276	0.0036	16	c.-47 others(27): Show c.-4736_-4735insTGTGTGTGTGTGTGTG	CHKA	ENSG00000110721.12	transcript	ENST00000265689.9	protein_coding		4525		chr11	TogoVar
CHL1_chr3_191763_414417	260263	C C	CAAATAAA others(9): Show CAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02572.hp2 HG02630.hp1 others(14): Show HG01243.hp2 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02809.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03209.hp2 HG03486.hp1 HG03540.hp2 HG06807.hp1 NA19030.hp1 NA19240.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0012 a0023	a0001c0001 a0002c0002 a0003c0003 others(6): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0006 a0007c0008 a0008c0007 a0012c0011 a0023c0023	a0001c0001t0006 a0001c0001t0016 a0001c0001t0018 others(14): Show a0001c0001t0006 a0001c0001t0016 a0001c0001t0018 a0002c0002t0002 a0002c0002t0004 a0003c0003t0003 a0003c0003t0004 a0003c0003t0006 a0003c0003t0027 a0004c0004t0006 a0004c0004t0030 a0005c0006t0051 a0007c0008t0012 a0008c0007t0001 a0008c0007t0012 a0012c0011t0002 a0023c0023t0017	a0001c0001t0006g0097 a0001c0001t0016g0100 a0001c0001t0018g0264 others(14): Show a0001c0001t0006g0097 a0001c0001t0016g0100 a0001c0001t0018g0264 a0002c0002t0002g0250 a0002c0002t0004g0010 a0003c0003t0003g0014 a0003c0003t0004g0009 a0003c0003t0006g0107 a0003c0003t0027g0087 a0004c0004t0006g0088 a0004c0004t0030g0099 a0005c0006t0051g0147 a0007c0008t0012g0094 a0008c0007t0001g0289 a0008c0007t0012g0101 a0012c0011t0002g0098 a0023c0023t0017g0287	17	290	0.0586	16	c.-95 others(35): Show c.-95+15576_-95+15591dupAAATAAATAAATAAAT	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHL1_chr3_191763_414417	314327	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0102 a0003c0003t0002g0102	1	290	0.0035	16	c.-94 others(33): Show c.-94-5355_-94-5354insATATATATATATATAT	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHL1_chr3_191763_414417	314329	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0044 a0004c0004t0001g0044	1	290	0.0035	16	c.-94 others(33): Show c.-94-5328_-94-5313dupATATATATATATATAT	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHL1_chr3_191763_414417	333124	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp1 HG01070.hp1 others(29): Show HG00280.hp2 HG00544.hp1 HG01070.hp1 HG01109.hp1 HG01175.hp1 HG01192.hp1 HG01261.hp1 HG01952.hp2 HG01978.hp2 HG02559.hp2 HG02572.hp1 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04115.hp2 NA18612.hp1 NA18944.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18956.hp1 NA18962.hp2 NA18973.hp2 NA19011.hp1 NA19012.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19079.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0011 a0014	a0001c0001 a0002c0002 a0004c0004 others(2): Show a0001c0001 a0002c0002 a0004c0004 a0011c0012 a0014c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0015 a0001c0001t0021 a0001c0001t0022 a0001c0001t0039 a0002c0002t0001 a0002c0002t0002 a0004c0004t0002 a0004c0004t0049 a0011c0012t0001 a0014c0018t0001	a0001c0001t0001g0030 a0001c0001t0001g0152 a0001c0001t0001g0177 others(29): Show a0001c0001t0001g0030 a0001c0001t0001g0152 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0227 a0001c0001t0001g0279 a0001c0001t0002g0051 a0001c0001t0002g0061 a0001c0001t0002g0082 a0001c0001t0003g0210 a0001c0001t0003g0258 a0001c0001t0003g0263 a0001c0001t0003g0276 a0001c0001t0009g0074 a0001c0001t0009g0075 a0001c0001t0015g0120 a0001c0001t0021g0179 a0001c0001t0021g0218 a0001c0001t0022g0131 a0001c0001t0022g0266 a0001c0001t0039g0181 a0002c0002t0001g0150 a0002c0002t0001g0173 a0002c0002t0001g0222 a0002c0002t0002g0079 a0004c0004t0002g0090 a0004c0004t0049g0012 a0011c0012t0001g0122 a0014c0018t0001g0193	32	290	0.1103	16	c.385 others(33): Show c.385+4778_385+4779insTTTTTTTTTTTTTTTT	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	5/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHMP1A_chr16_89639435_89662708	89655363	T T	TCTCAGCT others(9): Show TCTCAGCTTTCCCTCAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00323.hp2 others(115): Show HG00099.hp1 HG00323.hp1 HG00323.hp2 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01891.hp1 HG01891.hp2 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02129.hp1 HG02145.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03516.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18941.hp1 NA18944.hp2 NA18949.hp2 NA18960.hp1 NA18977.hp1 NA18980.hp1 NA18988.hp2 NA18990.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19067.hp1 NA19074.hp1 NA19077.hp1 NA19080.hp2 NA19085.hp1 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0017 a0001c0001t0018	a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0015 others(108): Show a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0346 a0001c0001t0003g0121 a0001c0001t0005g0130 a0001c0001t0005g0222 a0001c0001t0005g0223 a0001c0001t0005g0224 a0001c0001t0005g0225 a0001c0001t0005g0226 a0001c0001t0005g0227 a0001c0001t0006g0133 a0001c0001t0006g0134 a0001c0001t0006g0135 a0001c0001t0006g0136 a0001c0001t0006g0162 a0001c0001t0006g0163 a0001c0001t0007g0029 a0001c0001t0007g0159 a0001c0001t0007g0161 a0001c0001t0007g0167 a0001c0001t0007g0168 a0001c0001t0008g0018 a0001c0001t0008g0025 a0001c0001t0008g0210 a0001c0001t0009g0165 a0001c0001t0009g0166 a0001c0001t0017g0181 a0001c0001t0018g0190	118	392	0.3010	16	c.8-1 others(29): Show c.8-1456_8-1441dupGTGAGGGAAAGCTGAG	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	1/6			chr16	TogoVar
CHMP3_chr2_86498430_86568443	86554814	C C	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	336	0.0030	16	c.45+ others(31): Show c.45+8489_45+8490insACACACACACACACAC	CHMP3	ENSG00000115561.16	transcript	ENST00000263856.9	protein_coding	1/5			chr2	TogoVar
CHMP4B_chr20_33806348_33859366	33830933	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01175.hp1 HG01361.hp2 others(16): Show HG00408.hp1 HG01175.hp1 HG01361.hp2 HG02027.hp1 HG02027.hp2 HG02071.hp1 HG02074.hp2 HG02155.hp2 HG02300.hp2 HG03688.hp1 HG04115.hp2 NA18956.hp1 NA18967.hp2 NA18969.hp2 NA18974.hp2 NA18989.hp2 NA18995.hp1 NA18998.hp2 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0009 a0001c0001t0001g0043 a0001c0001t0001g0050 others(13): Show a0001c0001t0001g0009 a0001c0001t0001g0043 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0128 a0001c0001t0001g0139 a0001c0001t0001g0140 a0002c0003t0001g0049	19	332	0.0572	16	c.191 others(35): Show c.191-17533_191-17518dupTTTTTTTTTTTTTTTT	CHMP4B	ENSG00000101421.4	transcript	ENST00000217402.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
CHMP4B_chr20_33806348_33859366	33831071	G G	GTGGGGCT others(9): Show GTGGGGCTGAGGCAGCC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0096	1	332	0.0030	16	c.191 others(35): Show c.191-17396_191-17395insTGGGGCTGAGGCAGCC	CHMP4B	ENSG00000101421.4	transcript	ENST00000217402.3	protein_coding	1/4			chr20	TogoVar
CHMP6_chr17_80986841_81005133	80988884	G G	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp2 HG01891.hp2 others(6): Show HG01106.hp1 HG01106.hp2 HG01891.hp2 HG02165.hp1 HG02630.hp2 HG03041.hp2 NA18747.hp2 NA19002.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008	a0001c0001t0002g0001 a0001c0001t0002g0011 a0001c0001t0003g0004 others(4): Show a0001c0001t0002g0001 a0001c0001t0002g0011 a0001c0001t0003g0004 a0001c0001t0004g0001 a0001c0001t0004g0008 a0001c0001t0006g0073 a0001c0001t0008g0023	9	438	0.0206	16	c.-30 others(27): Show c.-3035_-3034insGTGTGTGTGTGTGTGT	CHMP6	ENSG00000176108.9	transcript	ENST00000325167.9	protein_coding		2956		chr17	TogoVar
CHMP7_chr8_23238637_23266999	23241367	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	438	0.0023	16	c.-29 others(27): Show c.-2918_-2917insTTTTTTTTTTTTTTTT	CHMP7	ENSG00000147457.14	transcript	ENST00000397677.6	protein_coding		2269		chr8	TogoVar
CHMP7_chr8_23238637_23266999	23252195	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02109.hp1 NA19067.hp2 others(1): Show HG01978.hp1 HG02109.hp1 NA19067.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011	a0001c0001t0001g0102 a0001c0001t0004g0219 a0001c0001t0005g0321 others(1): Show a0001c0001t0001g0102 a0001c0001t0004g0219 a0001c0001t0005g0321 a0001c0001t0011g0170	4	438	0.0091	16	c.471 others(33): Show c.471+2828_471+2829insTTTTTTTTTTTTTTTT	CHMP7	ENSG00000147457.14	transcript	ENST00000397677.6	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CHM_chrX_85856180_86052558	85856289	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0244 a0001c0001t0021g0244	1	245	0.0041	16	c.83 others(27): Show c.8340_*8341insTTTTTTTTTTTTTTTT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding		4890		chrX	TogoVar
CHM_chrX_85856180_86052558	85911162	T T	TTCATATA others(9): Show TTCATATATATATATGA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	245	0.0041	16	c.124 others(31): Show c.1244+98_1244+99insTCATATATATATATGA	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	9/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85913328	A A	AAAAGAAA others(9): Show AAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0146 a0001c0001t0015g0146	1	245	0.0041	16	c.116 others(35): Show c.1167-1991_1167-1990insCTTTCTTTCTTTCTTT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85913332	A A	AAAAGAAA others(9): Show AAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02165.hp2 HG03225.hp1 others(14): Show HG02083.hp1 HG02165.hp2 HG03225.hp1 HG04115.hp1 HG04228.hp1 NA18522.hp1 NA18948.hp1 NA18965.hp1 NA18973.hp1 NA18986.hp1 NA19004.hp1 NA19010.hp2 NA19056.hp1 NA19083.hp1 NA19086.hp1 NA19088.hp1 NA21309.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0006 a0001c0001 a0007c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0007c0006t0001	a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0027 others(14): Show a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0047 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0186 a0001c0001t0002g0191 a0001c0001t0003g0006 a0001c0001t0003g0157 a0001c0001t0003g0173 a0001c0001t0003g0207 a0001c0001t0004g0238 a0007c0006t0001g0144	17	245	0.0694	16	c.116 others(35): Show c.1167-2010_1167-1995dupCTTTCTTTCTTTCTTT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85949978	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01433.hp1 HG01975.hp2 others(2): Show HG01256.hp1 HG01433.hp1 HG01975.hp2 HG02886.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0138 a0001c0001t0001g0208 others(2): Show a0001c0001t0001g0111 a0001c0001t0001g0138 a0001c0001t0001g0208 a0001c0001t0001g0240 a0001c0001t0001g0241	5	245	0.0204	16	c.116 others(35): Show c.1166+6159_1166+6174dupATATATATATATATAT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHM_chrX_85856180_86052558	86013733	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAGA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0006 a0005c0011t0006	a0005c0011t0006g0230 a0005c0011t0006g0230	1	245	0.0041	16	c.116 others(35): Show c.116+13757_116+13758insTCTTTTTTTTTTTTTT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	2/14			chrX	TogoVar
CHN1_chr2_174793809_175010381	174807446	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01070.hp2 HG06807.hp2 HG00735.hp1 HG01070.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0042 a0001c0001t0001g0080 a0001c0001t0001g0081	3	276	0.0109	16	c.110 others(35): Show c.1102+1443_1102+1458dupCACACACACACACACA	CHN1	ENSG00000128656.15	transcript	ENST00000409900.9	protein_coding	11/12			chr2	TogoVar
CHN1_chr2_174793809_175010381	174858979	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02258.hp1 HG02572.hp2 others(5): Show HG02257.hp1 HG02258.hp1 HG02572.hp2 HG02723.hp2 HG02809.hp2 HG02896.hp1 HG03471.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0015 a0001c0001t0001 a0001c0001t0006 a0001c0001t0015	a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0053 others(5): Show a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0067 a0001c0001t0001g0257 a0001c0001t0006g0027 a0001c0001t0006g0041 a0001c0001t0015g0261	8	276	0.0290	16	c.550 others(35): Show c.550-12038_550-12023dupGTGTGTGTGTGTGTGT	CHN1	ENSG00000128656.15	transcript	ENST00000409900.9	protein_coding	6/12			chr2	TogoVar
CHN1_chr2_174793809_175010381	174974898	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	276	0.0036	16	c.20- others(33): Show c.20-22712_20-22697dupGTGTGTGTGTGTGTGT	CHN1	ENSG00000128656.15	transcript	ENST00000409900.9	protein_coding	1/12			chr2	TogoVar
CHN2_chr7_29189775_29519328	29195595	C C	CGAGAGAG others(9): Show CGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG03453.hp2 HG01169.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0014 a0001c0001t0001 a0001c0002t0014	a0001c0001t0001g0026 a0001c0002t0014g0019 a0001c0001t0001g0026 a0001c0002t0014g0019	2	232	0.0086	16	c.49+ others(29): Show c.49+625_49+640dupAGAGAGAGAGAGAGAG	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29195629	A A	AGAGAGAG others(9): Show AGAGAGAGAGAGAGAGT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0057 a0001c0001t0003g0057	1	232	0.0043	16	c.49+ others(29): Show c.49+640_49+641insAGAGAGAGAGAGAGTG	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29195629	A A	AGAGAGAG others(9): Show AGAGAGAGAGAGAGTGT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	232	0.0043	16	c.49+ others(29): Show c.49+640_49+641insAGAGAGAGAGAGTGTG	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29195629	A A	AGAGAGAG others(9): Show AGAGAGAGAGAGTGTGT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0097 a0001c0001t0003g0097	1	232	0.0043	16	c.49+ others(29): Show c.49+640_49+641insAGAGAGAGAGTGTGTG	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29195629	A A	AGAGAGAG others(9): Show AGAGAGAGAGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02145.hp2 HG02074.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0015 a0001c0002t0004 a0001c0001t0015 a0001c0002t0004	a0001c0001t0015g0117 a0001c0002t0004g0118 a0001c0001t0015g0117 a0001c0002t0004g0118	2	232	0.0086	16	c.49+ others(29): Show c.49+640_49+641insAGAGAGAGTGTGTGTG	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29233825	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00597.hp1 HG00597.hp2 others(9): Show HG00140.hp2 HG00597.hp1 HG00597.hp2 HG00673.hp1 HG02080.hp2 HG02818.hp2 NA18957.hp1 NA18970.hp1 NA18970.hp2 NA19000.hp1 NA19084.hp2 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0005t0007 a0002c0003t0004 a0002c0004t0005	a0001c0001t0001g0029 a0001c0001t0001g0082 a0001c0001t0003g0044 others(9): Show a0001c0001t0001g0029 a0001c0001t0001g0082 a0001c0001t0003g0044 a0001c0001t0003g0049 a0001c0001t0003g0111 a0001c0001t0007g0205 a0001c0002t0001g0063 a0001c0002t0002g0083 a0001c0002t0004g0207 a0001c0005t0007g0092 a0002c0003t0004g0101 a0002c0004t0005g0202	12	232	0.0517	16	c.49+ others(33): Show c.49+38846_49+38861dupTTTTTTTTTTTTTTTT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29252578	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG03239.hp1 HG04228.hp2 others(1): Show HG01167.hp2 HG03239.hp1 HG04228.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0001 a0001c0001t0005 a0001c0001t0009	a0001c0001t0001g0034 a0001c0001t0001g0183 a0001c0001t0005g0156 others(1): Show a0001c0001t0001g0034 a0001c0001t0001g0183 a0001c0001t0005g0156 a0001c0001t0009g0091	4	232	0.0172	16	c.49+ others(33): Show c.49+57601_49+57616dupTTTTTTTTTTTTTTTT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29252580	T T	TTTTTTTT others(9): Show TTTTTTTTGTTGTTTTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0142 a0002c0003t0002g0142	1	232	0.0043	16	c.49+ others(33): Show c.49+57597_49+57598insGTTGTTTTGTTTTTTT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29252585	T T	TTTTTTGT others(9): Show TTTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG01934.hp1 others(5): Show HG00597.hp1 HG00597.hp2 HG01934.hp1 HG02055.hp2 HG02818.hp2 HG02886.hp2 HG03486.hp2 NA18972.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0003c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0002t0002 a0002c0004t0005 a0003c0007t0013	a0001c0001t0001g0029 a0001c0001t0003g0044 a0001c0001t0011g0046 others(5): Show a0001c0001t0001g0029 a0001c0001t0003g0044 a0001c0001t0011g0046 a0001c0002t0002g0077 a0001c0002t0002g0219 a0002c0004t0005g0175 a0002c0004t0005g0202 a0003c0007t0013g0013	8	232	0.0345	16	c.49+ others(33): Show c.49+57600_49+57601insGTTTTGTTTTGTTTTT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29252591	T T	TGTTTTGT others(9): Show TGTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0212 a0001c0001t0007g0212	1	232	0.0043	16	c.49+ others(33): Show c.49+57601_49+57602insGTTTTGTTTTGTTTTG	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12			chr7	TogoVar
CHN2_chr7_29189775_29519328	29268283	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01167.hp1 HG01943.hp2 others(21): Show HG00558.hp2 HG01167.hp1 HG01943.hp2 HG01952.hp2 HG02040.hp1 HG02071.hp1 HG02148.hp1 HG02273.hp1 HG02273.hp2 HG02735.hp2 HG02886.hp1 HG03486.hp1 HG03704.hp2 HG04204.hp1 NA18612.hp2 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA19012.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19082.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0002c0004 a0003c0007	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 others(9): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0002t0002 a0001c0002t0004 a0001c0005t0005 a0002c0003t0004 a0002c0004t0001 a0002c0004t0007 a0003c0007t0013	a0001c0001t0003g0014 a0001c0001t0003g0194 a0001c0001t0005g0018 others(21): Show a0001c0001t0003g0014 a0001c0001t0003g0194 a0001c0001t0005g0018 a0001c0001t0005g0133 a0001c0001t0005g0179 a0001c0001t0006g0001 a0001c0001t0006g0037 a0001c0001t0006g0144 a0001c0001t0006g0145 a0001c0001t0007g0022 a0001c0001t0007g0222 a0001c0001t0009g0017 a0001c0001t0009g0043 a0001c0001t0009g0091 a0001c0002t0002g0045 a0001c0002t0004g0088 a0001c0002t0004g0216 a0001c0005t0005g0151 a0002c0003t0004g0072 a0002c0003t0004g0146 a0002c0003t0004g0203 a0002c0004t0001g0059 a0002c0004t0007g0094 a0003c0007t0013g0035	24	232	0.1035	16	c.49+ others(33): Show c.49+73317_49+73332dupCACACACACACACACA	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29295314	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02486.hp1 HG04204.hp1 others(1): Show HG02129.hp1 HG02486.hp1 HG04204.hp1 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0005 a0001c0002t0004 a0001c0002t0005 others(1): Show a0001c0001t0005 a0001c0002t0004 a0001c0002t0005 a0002c0003t0004	a0001c0001t0005g0179 a0001c0002t0004g0207 a0001c0002t0005g0173 others(1): Show a0001c0001t0005g0179 a0001c0002t0004g0207 a0001c0002t0005g0173 a0002c0003t0004g0124	4	232	0.0172	16	c.50- others(33): Show c.50-59293_50-59278dupCACACACACACACACA	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29354940	T T	TTTTATTT others(9): Show TTTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01943.hp1 HG01978.hp1 others(4): Show HG00597.hp2 HG01943.hp1 HG01978.hp1 HG02809.hp2 HG03471.hp2 HG03710.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0012 a0001c0001t0003g0044 a0001c0001t0005g0174 others(4): Show a0001c0001t0001g0012 a0001c0001t0003g0044 a0001c0001t0005g0174 a0001c0001t0006g0147 a0001c0001t0012g0172 a0001c0002t0002g0189 a0001c0002t0003g0068	7	232	0.0302	16	c.88+ others(29): Show c.88+297_88+312dupATTTATTTATTTATTT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29354969	T T	TTTATTTA others(9): Show TTTATTTATTTATTTAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0026	a0001c0002t0026g0209 a0001c0002t0026g0209	1	232	0.0043	16	c.88+ others(29): Show c.88+312_88+313insATTTATTTACTTATTT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29374801	T T	TTTCCTTC others(9): Show TTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00642.hp2 HG00741.hp1 others(24): Show HG00438.hp1 HG00642.hp2 HG00741.hp1 HG01109.hp1 HG01433.hp2 HG01517.hp2 HG01891.hp2 HG01978.hp1 HG02040.hp2 HG02074.hp2 HG02080.hp2 HG02273.hp1 HG02293.hp1 HG02818.hp1 HG03195.hp1 HG03491.hp2 HG03492.hp2 HG03579.hp2 HG04228.hp2 NA18612.hp1 NA18998.hp1 NA19000.hp2 NA19079.hp1 NA19080.hp1 NA19082.hp2 NA19085.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0024 a0001c0001t0028 a0001c0002t0004 a0001c0005t0007 a0002c0003t0002 a0002c0003t0004 a0002c0004t0001	a0001c0001t0001g0012 a0001c0001t0001g0160 a0001c0001t0001g0183 others(24): Show a0001c0001t0001g0012 a0001c0001t0001g0160 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0003g0093 a0001c0001t0003g0106 a0001c0001t0003g0138 a0001c0001t0005g0023 a0001c0001t0005g0129 a0001c0001t0005g0159 a0001c0001t0005g0174 a0001c0001t0008g0008 a0001c0001t0011g0073 a0001c0001t0024g0080 a0001c0001t0028g0050 a0001c0002t0004g0004 a0001c0002t0004g0118 a0001c0002t0004g0132 a0001c0002t0004g0199 a0001c0005t0007g0092 a0002c0003t0002g0069 a0002c0003t0002g0142 a0002c0003t0004g0071 a0002c0003t0004g0101 a0002c0003t0004g0203 a0002c0004t0001g0121	27	232	0.1164	16	c.144 others(33): Show c.144+6848_144+6863dupTCCTTCCTTCCTTCCT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29405164	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01168.hp2 HG01943.hp1 others(3): Show HG00642.hp1 HG01168.hp2 HG01943.hp1 HG02647.hp1 HG03831.hp2 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0002t0002 a0001c0002t0020	a0001c0001t0001g0136 a0001c0001t0003g0161 a0001c0001t0006g0147 others(3): Show a0001c0001t0001g0136 a0001c0001t0003g0161 a0001c0001t0006g0147 a0001c0001t0007g0223 a0001c0002t0002g0219 a0001c0002t0020g0052	6	232	0.0259	16	c.576 others(33): Show c.576+4379_576+4394dupACACACACACACACAC	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29437597	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0143 a0001c0001t0003g0143	1	232	0.0043	16	c.576 others(35): Show c.576+36770_576+36785dupAAAAAAAAAAAAAAAA	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29442934	C C	CTTTTTTT others(9): Show CTTTTTTTTTTCTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03225.hp2 HG01891.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0027 a0001c0001t0003 a0001c0002t0027	a0001c0001t0003g0143 a0001c0002t0027g0060 a0001c0001t0003g0143 a0001c0002t0027g0060	2	232	0.0086	16	c.577 others(35): Show c.577-37335_577-37334insCTTTTTTTTTTTTTTT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29442934	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTCTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG00597.hp1 others(22): Show HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00673.hp2 HG01167.hp1 HG01192.hp1 HG01517.hp2 HG02074.hp1 HG02074.hp2 HG02135.hp1 HG03017.hp2 NA18942.hp1 NA18948.hp1 NA18957.hp1 NA18970.hp2 NA18982.hp1 NA18998.hp1 NA19000.hp2 NA19005.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19080.hp2 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004	a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 others(7): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0002t0004 a0002c0003t0004 a0002c0004t0001 a0002c0004t0005 a0002c0004t0007	a0001c0001t0003g0032 a0001c0001t0003g0044 a0001c0001t0003g0049 others(22): Show a0001c0001t0003g0032 a0001c0001t0003g0044 a0001c0001t0003g0049 a0001c0001t0003g0111 a0001c0001t0003g0138 a0001c0001t0005g0018 a0001c0001t0005g0023 a0001c0001t0005g0133 a0001c0001t0007g0003 a0001c0001t0008g0131 a0001c0001t0008g0139 a0001c0001t0009g0090 a0001c0001t0009g0158 a0001c0001t0009g0232 a0001c0002t0004g0118 a0001c0002t0004g0196 a0001c0002t0004g0199 a0002c0003t0004g0071 a0002c0003t0004g0072 a0002c0004t0001g0038 a0002c0004t0001g0059 a0002c0004t0005g0202 a0002c0004t0007g0084 a0002c0004t0007g0094 a0002c0004t0007g0157	25	232	0.1078	16	c.577 others(35): Show c.577-37334_577-37333insCTTTTTTTTTTTTTTT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHP2_chr16_23750026_23763935	23759381	C C	CTTCTTTC others(9): Show CTTCTTTCTTTCTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG01081.hp1 HG01081.hp2 others(27): Show HG00423.hp2 HG01081.hp1 HG01081.hp2 HG01358.hp1 HG01516.hp1 HG02683.hp1 HG02717.hp1 HG02922.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp2 HG03491.hp2 HG03834.hp1 HG03927.hp2 HG06807.hp2 NA18906.hp1 NA18952.hp1 NA18954.hp1 NA18961.hp2 NA18980.hp2 NA18995.hp1 NA18995.hp2 NA19004.hp1 NA19005.hp2 NA19030.hp2 NA19065.hp2 NA19079.hp1 NA19089.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0002g0005 a0001c0001t0003g0002 a0001c0001t0006g0001	30	392	0.0765	16	c.17 others(27): Show c.1798_*1799insTTCTTTCTTTCTTTCT	CHP2	ENSG00000166869.3	transcript	ENST00000300113.3	protein_coding		447		chr16	TogoVar
CHPT1_chr12_101692640_101734074	101693737	C C	CTAAATAA others(9): Show CTAAATAAATAAATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	402	0.0025	16	c.-41 others(27): Show c.-4125_-4124insTAAATAAATAAATAAA	CHPT1	ENSG00000111666.11	transcript	ENST00000229266.8	protein_coding		3902		chr12	TogoVar
CHRDL1_chrX_110668856_110800817	110689460	A A	ATATATCT others(9): Show ATATATCTATATATATC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0050 a0004c0005t0050	a0004c0005t0050g0072 a0004c0005t0050g0072	1	172	0.0058	16	c.779 others(31): Show c.779-658_779-657insGATATATATAGATATA	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	8/11			chrX	TogoVar
CHRDL1_chrX_110668856_110800817	110689765	A A	ATATATAT others(9): Show ATATATATCTATATATC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0112 a0003c0004t0006g0112	1	172	0.0058	16	c.779 others(31): Show c.779-978_779-963dupGATATATAGATATATA	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	8/11			chrX	TogoVar
CHRDL1_chrX_110668856_110800817	110689933	A A	ATATATCT others(9): Show ATATATCTATATATATC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02630.hp2 NA20129.hp2 HG02055.hp1 HG02630.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0006 a0001c0002t0003 a0001c0002t0006	a0001c0002t0003g0031 a0001c0002t0003g0078 a0001c0002t0006g0020 a0001c0002t0003g0031 a0001c0002t0003g0078 a0001c0002t0006g0020	3	172	0.0174	16	c.779 others(33): Show c.779-1131_779-1130insGATATATATAGATATA	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	8/11			chrX	TogoVar
CHRDL1_chrX_110668856_110800817	110689969	A A	ATATATCT others(9): Show ATATATCTATATATATC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(34): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG01167.hp1 HG01258.hp1 HG01433.hp1 HG01515.hp1 HG02055.hp1 HG02083.hp1 HG02258.hp1 HG02280.hp1 HG02486.hp1 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02717.hp1 HG02809.hp1 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03710.hp1 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 others(6): Show a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0007 a0001c0002t0011 a0001c0002t0021 a0003c0004t0004 a0003c0004t0006 a0003c0004t0048	a0001c0002t0003g0001 a0001c0002t0003g0004 a0001c0002t0003g0018 others(33): Show a0001c0002t0003g0001 a0001c0002t0003g0004 a0001c0002t0003g0018 a0001c0002t0003g0022 a0001c0002t0003g0029 a0001c0002t0003g0031 a0001c0002t0003g0077 a0001c0002t0003g0156 a0001c0002t0003g0169 a0001c0002t0003g0171 a0001c0002t0004g0032 a0001c0002t0004g0049 a0001c0002t0004g0051 a0001c0002t0004g0053 a0001c0002t0004g0151 a0001c0002t0004g0153 a0001c0002t0004g0157 a0001c0002t0004g0159 a0001c0002t0004g0160 a0001c0002t0004g0161 a0001c0002t0006g0020 a0001c0002t0006g0021 a0001c0002t0006g0030 a0001c0002t0006g0099 a0001c0002t0006g0150 a0001c0002t0007g0017 a0001c0002t0007g0023 a0001c0002t0007g0052 a0001c0002t0007g0122 a0001c0002t0011g0009 a0001c0002t0011g0055 a0001c0002t0011g0060 a0001c0002t0021g0019 a0003c0004t0004g0079 a0003c0004t0006g0112 a0003c0004t0048g0145	37	172	0.2151	16	c.779 others(33): Show c.779-1167_779-1166insGATATATATAGATATA	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	8/11			chrX	TogoVar
CHRD_chr3_184375054_184394829	184388387	G G	GCATCCAT others(9): Show GCATCCATCCATCCATC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02970.hp1 HG03540.hp2 others(1): Show HG02559.hp1 HG02970.hp1 HG03540.hp2 NA19030.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0007 a0002c0002 a0004c0007	a0002c0002t0001 a0002c0002t0003 a0004c0007t0001 a0002c0002t0001 a0002c0002t0003 a0004c0007t0001	a0002c0002t0001g0032 a0002c0002t0003g0032 a0004c0007t0001g0147 a0002c0002t0001g0032 a0002c0002t0003g0032 a0004c0007t0001g0147	4	428	0.0094	16	c.255 others(33): Show c.2555-170_2555-155dupATCCATCCATCCATCC	CHRD	ENSG00000090539.16	transcript	ENST00000204604.6	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHRFAM7A_chr15_30355566_30398540	30391993	A A	AAAATAAA others(9): Show AAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0008 a0002c0010t0008	a0002c0010t0008g0102 a0002c0010t0008g0102	1	133	0.0075	16	c.-15 others(35): Show c.-157+1243_-157+1258dupATTTATTTATTTATTT	CHRFAM7A	ENSG00000166664.15	transcript	ENST00000299847.7	protein_coding	1/9			chr15	TogoVar
CHRFAM7A_chr15_30355566_30398540	30393857	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG02071.hp2 NA19056.hp1 HG00621.hp1 HG02071.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0066 a0001c0001t0001g0077 a0001c0007t0001g0081 a0001c0001t0001g0066 a0001c0001t0001g0077 a0001c0007t0001g0081	3	133	0.0226	16	c.-76 others(25): Show c.-763_-762insCACACACACACACACA	CHRFAM7A	ENSG00000166664.15	transcript	ENST00000299847.7	protein_coding		318		chr15	TogoVar

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