Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
BBS9_chr7_33124564_33611069	33188080	A A	ATGTGTGT others(3): Show ATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02451.hp2 HG02559.hp2 others(7): Show HG02258.hp2 HG02451.hp2 HG02559.hp2 HG02622.hp2 HG02897.hp2 HG02922.hp2 HG03098.hp1 HG03453.hp1 HG03486.hp1 HG04228.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0009 a0013	a0001c0001 a0002c0002 a0005c0005 others(2): Show a0001c0001 a0002c0002 a0005c0005 a0009c0008 a0013c0018	a0001c0001t0001 a0002c0002t0001 a0002c0002t0007 others(3): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0007 a0005c0005t0007 a0009c0008t0002 a0013c0018t0001	a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0131 others(7): Show a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0131 a0001c0001t0001g0203 a0001c0001t0001g0261 a0002c0002t0001g0130 a0002c0002t0007g0165 a0005c0005t0007g0128 a0009c0008t0002g0121 a0013c0018t0001g0127	10	268	0.0373	10	c.442 others(29): Show c.442+10512_442+10521dupTGTGTGTGTG	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33203717	A A	ACTTTTCT others(3): Show ACTTTTCTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(263): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02293.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 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19063.hp1 NA19063.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015	a0001c0001 a0001c0009 a0001c0010 others(23): Show a0001c0001 a0001c0009 a0001c0010 a0001c0013 a0001c0020 a0001c0021 a0001c0023 a0001c0025 a0001c0026 a0002c0002 a0002c0017 a0003c0003 a0004c0004 a0004c0022 a0005c0005 a0006c0011 a0006c0012 a0007c0006 a0008c0007 a0009c0008 a0010c0019 a0011c0014 a0012c0016 a0013c0018 a0014c0015 a0015c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(51): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0009t0001 a0001c0010t0001 a0001c0013t0010 a0001c0020t0002 a0001c0021t0001 a0001c0023t0001 a0001c0025t0003 a0001c0026t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0011 a0002c0002t0014 a0002c0002t0019 a0002c0017t0001 a0003c0003t0001 a0004c0004t0001 a0004c0022t0001 a0005c0005t0001 a0005c0005t0007 a0006c0011t0001 a0006c0012t0007 a0006c0012t0015 a0007c0006t0001 a0007c0006t0002 a0007c0006t0005 a0008c0007t0001 a0008c0007t0002 a0009c0008t0001 a0009c0008t0002 a0010c0019t0003 a0011c0014t0001 a0012c0016t0002 a0013c0018t0001 a0014c0015t0001 a0015c0024t0011	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0045 others(263): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0191 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0002g0048 a0001c0001t0002g0085 a0001c0001t0002g0088 a0001c0001t0002g0092 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0101 a0001c0001t0002g0105 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0120 a0001c0001t0002g0129 a0001c0001t0002g0134 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0152 a0001c0001t0002g0164 a0001c0001t0002g0172 a0001c0001t0002g0190 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0220 a0001c0001t0002g0223 a0001c0001t0002g0247 a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0264 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0027 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0004g0007 a0001c0001t0004g0014 a0001c0001t0005g0059 a0001c0001t0005g0066 a0001c0001t0005g0067 a0001c0001t0005g0074 a0001c0001t0005g0076 a0001c0001t0005g0202 a0001c0001t0005g0218 a0001c0001t0006g0053 a0001c0001t0006g0054 a0001c0001t0006g0077 a0001c0001t0006g0087 a0001c0001t0006g0102 a0001c0001t0006g0107 a0001c0001t0006g0243 a0001c0001t0007g0228 a0001c0001t0008g0209 a0001c0001t0008g0210 a0001c0001t0008g0232 a0001c0001t0008g0233 a0001c0001t0009g0211 a0001c0001t0009g0214 a0001c0001t0009g0215 a0001c0001t0010g0117 a0001c0001t0010g0170 a0001c0001t0012g0212 a0001c0001t0012g0213 a0001c0001t0013g0041 a0001c0001t0013g0042 a0001c0001t0016g0071 a0001c0001t0017g0226 a0001c0001t0018g0171 a0001c0009t0001g0240 a0001c0009t0001g0241 a0001c0010t0001g0084 a0001c0010t0001g0167 a0001c0013t0010g0260 a0001c0020t0002g0069 a0001c0021t0001g0251 a0001c0023t0001g0168 a0001c0025t0003g0030 a0001c0026t0001g0068 a0002c0002t0001g0130 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0159 a0002c0002t0001g0179 a0002c0002t0001g0189 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0219 a0002c0002t0001g0224 a0002c0002t0002g0123 a0002c0002t0002g0188 a0002c0002t0003g0003 a0002c0002t0003g0004 a0002c0002t0003g0012 a0002c0002t0003g0018 a0002c0002t0003g0023 a0002c0002t0003g0026 a0002c0002t0003g0028 a0002c0002t0003g0031 a0002c0002t0004g0001 a0002c0002t0004g0002 a0002c0002t0004g0006 a0002c0002t0004g0008 a0002c0002t0004g0011 a0002c0002t0004g0013 a0002c0002t0004g0016 a0002c0002t0004g0019 a0002c0002t0004g0022 a0002c0002t0004g0025 a0002c0002t0004g0032 a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 a0002c0002t0005g0192 a0002c0002t0007g0165 a0002c0002t0007g0166 a0002c0002t0011g0015 a0002c0002t0011g0017 a0002c0002t0014g0005 a0002c0002t0014g0029 a0002c0002t0019g0043 a0002c0017t0001g0267 a0003c0003t0001g0047 a0003c0003t0001g0060 a0003c0003t0001g0146 a0003c0003t0001g0205 a0003c0003t0001g0207 a0003c0003t0001g0208 a0004c0004t0001g0182 a0004c0004t0001g0183 a0004c0004t0001g0184 a0004c0004t0001g0186 a0004c0004t0001g0187 a0004c0022t0001g0185 a0005c0005t0001g0140 a0005c0005t0001g0180 a0005c0005t0007g0128 a0005c0005t0007g0139 a0006c0011t0001g0236 a0006c0011t0001g0238 a0006c0012t0007g0235 a0006c0012t0015g0237 a0007c0006t0001g0115 a0007c0006t0002g0090 a0007c0006t0005g0091 a0008c0007t0001g0150 a0008c0007t0002g0046 a0009c0008t0001g0122 a0009c0008t0002g0121 a0010c0019t0003g0250 a0011c0014t0001g0103 a0012c0016t0002g0268 a0013c0018t0001g0127 a0014c0015t0001g0100 a0015c0024t0011g0024	266	268	0.9925	10	c.442 others(29): Show c.442+26132_442+26141dupCTTTTCTTTT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33249226	G G	GACACACA others(3): Show GACACACACAC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02886.hp2 NA19030.hp1 others(1): Show HG02630.hp2 HG02886.hp2 NA19030.hp1 NA19043.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0004c0022 a0001c0001 a0004c0004 a0004c0022	a0001c0001t0001 a0004c0004t0001 a0004c0022t0001 a0001c0001t0001 a0004c0004t0001 a0004c0022t0001	a0001c0001t0001g0039 a0001c0001t0001g0040 a0004c0004t0001g0187 others(1): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0004c0004t0001g0187 a0004c0022t0001g0185	4	268	0.0149	10	c.443 others(27): Show c.443-7993_443-7984dupACACACACAC	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33368577	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG04204.hp2 HG06807.hp1 HG03491.hp2 HG04204.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0003 a0001c0010t0001 a0001c0001t0003 a0001c0010t0001	a0001c0001t0003g0020 a0001c0001t0003g0036 a0001c0010t0001g0167 a0001c0001t0003g0020 a0001c0001t0003g0036 a0001c0010t0001g0167	3	268	0.0112	10	c.178 others(27): Show c.1789+746_1789+755dupACACACACAC	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	17/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33384715	T T	TGTGAGAG others(3): Show TGTGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01106.hp2 HG03017.hp1 HG00140.hp2 HG01106.hp2 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0009 a0001c0001t0008 a0001c0001t0009	a0001c0001t0008g0209 a0001c0001t0008g0210 a0001c0001t0009g0214 a0001c0001t0008g0209 a0001c0001t0008g0210 a0001c0001t0009g0214	3	268	0.0112	10	c.196 others(27): Show c.1962+878_1962+879insTGAGAGAGAG	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33384715	T T	TGTGTGAG others(3): Show TGTGTGAGAGA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01243.hp2 HG01516.hp2 others(1): Show HG01175.hp1 HG01243.hp2 HG01516.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0012 a0001c0001t0009 a0001c0001t0012	a0001c0001t0009g0211 a0001c0001t0009g0215 a0001c0001t0012g0212 others(1): Show a0001c0001t0009g0211 a0001c0001t0009g0215 a0001c0001t0012g0212 a0001c0001t0012g0213	4	268	0.0149	10	c.196 others(27): Show c.1962+878_1962+879insTGTGAGAGAG	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33390907	T T	TAGTAGCA others(3): Show TAGTAGCAGAG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0001 a0011c0014t0001	a0011c0014t0001g0103 a0011c0014t0001g0103	1	268	0.0037	10	c.211 others(29): Show c.2115+2763_2115+2764insAGTAGCAGAG	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	19/22			chr7	TogoVar
BBS9_chr7_33124564_33611069	33492811	A A	AGTGTGTG others(3): Show AGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA18959.hp2 HG02486.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0081 a0001c0001t0018g0171 a0001c0001t0001g0081 a0001c0001t0018g0171	2	268	0.0075	10	c.211 others(31): Show c.2116-12617_2116-12608dupGTGTGTGTGT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33565781	G G	GTATATAT others(3): Show GTATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18906.hp2 HG00544.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0006 a0001c0001t0007	a0001c0001t0006g0243 a0001c0001t0007g0228 a0001c0001t0006g0243 a0001c0001t0007g0228	2	268	0.0075	10	c.252 others(31): Show c.2521+31642_2521+31651dupTATATATATA	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33574684	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03704.hp1 HG02735.hp1 HG03704.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0004 a0001c0001t0001 a0002c0002t0004	a0001c0001t0001g0153 a0002c0002t0004g0002 a0001c0001t0001g0153 a0002c0002t0004g0002	2	268	0.0075	10	c.252 others(31): Show c.2522-30148_2522-30139dupACACACACAC	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33574696	C C	CACACACA others(3): Show CACACACACAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	268	0.0037	10	c.252 others(31): Show c.2522-30160_2522-30159insTACACACACA	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33574725	A A	ACACACAC others(3): Show ACACACACACG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	268	0.0037	10	c.252 others(31): Show c.2522-30139_2522-30138insACACACACGC	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBX_chr3_107517962_107816339	107616005	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	222	0.0045	10	c.-83 others(29): Show c.-83-29803_-83-29794dupTTTTTTTTTT	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107638780	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03669.hp1 HG03098.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0037 a0001c0007t0014 a0001c0001t0037 a0001c0007t0014	a0001c0001t0037g0196 a0001c0007t0014g0047 a0001c0001t0037g0196 a0001c0007t0014g0047	2	222	0.0090	10	c.-83 others(27): Show c.-83-7012_-83-7003dupCACACACACA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107737884	G G	GTTTTTTT others(3): Show GTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0195 a0001c0001t0005g0195	1	222	0.0045	10	c.669 others(27): Show c.669+4882_669+4891dupTTTTTTTTTT	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107778994	C C	CATATATA others(3): Show CATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01433.hp2 HG03688.hp1 others(3): Show HG00140.hp2 HG01433.hp2 HG03688.hp1 HG04199.hp2 HG04228.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0017	a0001c0001t0002g0076 a0001c0001t0002g0087 a0001c0001t0003g0157 others(3): Show a0001c0001t0002g0076 a0001c0001t0002g0087 a0001c0001t0003g0157 a0001c0001t0004g0105 a0001c0001t0004g0181 a0001c0001t0017g0197	6	222	0.0270	10	c.220 others(27): Show c.2203+493_2203+502dupTATATATATA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107797337	A A	AATATATA others(3): Show AATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02572.hp1 HG03195.hp1 HG02451.hp1 HG02572.hp1 HG03195.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0090 a0001c0001t0001g0128 a0004c0005t0001g0064 a0001c0001t0001g0090 a0001c0001t0001g0128 a0004c0005t0001g0064	3	222	0.0135	10	c.235 others(29): Show c.2354-1168_2354-1159dupTATATATATA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BCAN_chr1_156637117_156664528	156643631	C C	CAGAGAGA others(3): Show CAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	420	0.0024	10	c.-9+ others(25): Show c.-9+1357_-9+1358insGAGAGAGAGA	BCAN	ENSG00000132692.19	transcript	ENST00000329117.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
BCAN_chr1_156637117_156664528	156643633	C C	CAGAGAGA others(3): Show CAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01106.hp1 HG01167.hp2 others(27): Show HG00639.hp1 HG01106.hp1 HG01167.hp2 HG01175.hp1 HG01192.hp1 HG01261.hp1 HG01433.hp1 HG01515.hp2 HG01517.hp2 HG01934.hp2 HG02155.hp2 HG02273.hp1 HG03471.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG04115.hp2 NA18942.hp1 NA18959.hp1 NA18961.hp1 NA18974.hp1 NA19002.hp1 NA19011.hp1 NA19043.hp1 NA19057.hp2 NA19064.hp2 NA19066.hp2 NA19067.hp2 NA19090.hp1 NA19090.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0007	a0001c0001 a0001c0005 a0002c0002 others(4): Show a0001c0001 a0001c0005 a0002c0002 a0002c0003 a0003c0004 a0005c0010 a0007c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0005t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0003t0001 a0003c0004t0002 a0005c0010t0002 a0007c0012t0001	a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0002g0019 others(22): Show a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0002g0019 a0001c0001t0002g0045 a0001c0001t0002g0109 a0001c0001t0002g0234 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0003g0236 a0001c0005t0001g0110 a0001c0005t0001g0235 a0002c0002t0001g0113 a0002c0002t0001g0246 a0002c0002t0002g0043 a0002c0002t0002g0112 a0002c0002t0002g0237 a0002c0002t0003g0115 a0002c0003t0001g0111 a0002c0003t0001g0242 a0002c0003t0001g0243 a0002c0003t0001g0245 a0003c0004t0002g0044 a0005c0010t0002g0244 a0007c0012t0001g0238	30	420	0.0714	10	c.-9+ others(25): Show c.-9+1359_-9+1360insGAGAGAGAGA	BCAN	ENSG00000132692.19	transcript	ENST00000329117.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
BCAN_chr1_156637117_156664528	156643635	C C	CAGAGAGA others(3): Show CAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01081.hp2 HG03491.hp2 others(2): Show HG00621.hp1 HG01081.hp2 HG03491.hp2 NA18966.hp1 NA18969.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0003t0001 a0002c0003t0002 a0002c0002t0001 a0002c0003t0001 a0002c0003t0002	a0002c0002t0001g0168 a0002c0003t0001g0064 a0002c0003t0001g0065 others(2): Show a0002c0002t0001g0168 a0002c0003t0001g0064 a0002c0003t0001g0065 a0002c0003t0001g0301 a0002c0003t0002g0066	5	420	0.0119	10	c.-9+ others(25): Show c.-9+1384_-9+1393dupGAGAGAGAGA	BCAN	ENSG00000132692.19	transcript	ENST00000329117.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
BCAN_chr1_156637117_156664528	156661555	C C	CGTGTGTG others(3): Show CGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG02257.hp2 HG02486.hp1 others(7): Show HG01167.hp2 HG02257.hp2 HG02486.hp1 HG02970.hp2 HG03209.hp1 NA18906.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19086.hp2	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0002c0002 a0012c0016 a0001c0001 a0002c0002 a0012c0016	a0001c0001t0001 a0002c0002t0001 a0012c0016t0001 a0001c0001t0001 a0002c0002t0001 a0012c0016t0001	a0001c0001t0001g0002 a0001c0001t0001g0054 a0001c0001t0001g0287 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0054 a0001c0001t0001g0287 a0002c0002t0001g0113 a0002c0002t0001g0181 a0002c0002t0001g0268 a0002c0002t0001g0288 a0012c0016t0001g0158	10	420	0.0238	10	c.24 others(21): Show c.2421_*2422insGTGTGTGTGT	BCAN	ENSG00000132692.19	transcript	ENST00000329117.10	protein_coding		2028		chr1	TogoVar
BCAP29_chr7_107575246_107625478	107599216	T T	TTTATATA others(3): Show TTTATATATAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18951.hp2 NA18957.hp1 others(1): Show HG00544.hp2 NA18951.hp2 NA18957.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0124 a0001c0001t0001g0141 a0001c0001t0001g0012 a0001c0001t0001g0124 a0001c0001t0001g0141	4	398	0.0101	10	c.481 others(27): Show c.481-1181_481-1180insTTATATATAA	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	5/7			chr7	TogoVar
BCAP29_chr7_107575246_107625478	107612391	T T	TTATATAT others(3): Show TTATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 NA18981.hp2 NA19058.hp1 HG00099.hp1 NA18981.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0273 a0001c0001t0002g0301 a0001c0001t0005g0358 a0001c0001t0002g0273 a0001c0001t0002g0301 a0001c0001t0005g0358	3	398	0.0075	10	c.590 others(25): Show c.590-901_590-892dupATATATATAT	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAP29_chr7_107575246_107625478	107612433	A A	ATTTATTT others(3): Show ATTTATTTATT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	398	0.0025	10	c.590 others(25): Show c.590-898_590-897insTTATTTATTT	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAP29_chr7_107575246_107625478	107612437	A A	ATATATAT others(3): Show ATATATATATT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02040.hp2 HG02738.hp1 others(1): Show HG00280.hp1 HG02040.hp2 HG02738.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0052 a0001c0001t0003g0204 a0001c0001t0003g0205 others(1): Show a0001c0001t0003g0052 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0208	4	398	0.0101	10	c.590 others(25): Show c.590-892_590-891insATATATTTAT	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAP29_chr7_107575246_107625478	107612437	A A	ATATATTT others(3): Show ATATATTTATT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02886.hp1 HG02895.hp2 others(3): Show HG02809.hp2 HG02886.hp1 HG02895.hp2 HG03041.hp1 NA18957.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0029 a0001c0001t0001g0031 others(2): Show a0001c0001t0001g0007 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0333	6	398	0.0151	10	c.590 others(25): Show c.590-892_590-891insATTTATTTAT	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAP29_chr7_107575246_107625478	107612437	A A	ATTTATTT others(3): Show ATTTATTTATT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02976.hp2 HG03486.hp2 HG02055.hp2 HG02976.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0057 a0001c0001t0001g0240 a0001c0001t0001g0037 a0001c0001t0001g0057 a0001c0001t0001g0240	3	398	0.0075	10	c.590 others(25): Show c.590-894_590-893insTTATTTATTT	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAR1_chr16_75223181_75256624	75223837	G G	GAGCCCTG others(3): Show GAGCCCTGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0074 a0001c0002t0002g0074	1	392	0.0026	10	c.56 others(21): Show c.5664_*5673dupGGGCAGGGCT	BCAR1	ENSG00000050820.17	transcript	ENST00000162330.10	protein_coding		4343		chr16	TogoVar
BCAR1_chr16_75223181_75256624	75234164	G G	GACACACA others(3): Show GACACACACAC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0001 a0010c0016t0001	a0010c0016t0001g0273 a0010c0016t0001g0273	1	392	0.0026	10	c.201 others(27): Show c.2011-239_2011-230dupGTGTGTGTGT	BCAR1	ENSG00000050820.17	transcript	ENST00000162330.10	protein_coding	5/6			chr16	TogoVar
BCAR1_chr16_75223181_75256624	75245964	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01106.hp2 others(22): Show HG01069.hp2 HG01071.hp1 HG01106.hp2 HG01433.hp2 HG01891.hp1 HG02056.hp1 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02717.hp1 HG02723.hp1 HG02886.hp2 HG02896.hp1 HG03017.hp1 HG03130.hp2 HG03492.hp1 HG04204.hp2 NA18956.hp1 NA18967.hp2 NA18999.hp2 NA19058.hp2 NA19083.hp2 NA19088.hp1 NA19240.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0010 a0018 a0024 a0030	a0001c0002 a0001c0008 a0001c0018 others(6): Show a0001c0002 a0001c0008 a0001c0018 a0002c0005 a0003c0007 a0010c0016 a0018c0029 a0024c0045 a0030c0048	a0001c0002t0002 a0001c0002t0003 a0001c0008t0003 others(7): Show a0001c0002t0002 a0001c0002t0003 a0001c0008t0003 a0001c0018t0001 a0002c0005t0001 a0003c0007t0001 a0010c0016t0001 a0018c0029t0011 a0024c0045t0002 a0030c0048t0003	a0001c0002t0002g0025 a0001c0002t0002g0070 a0001c0002t0002g0073 others(15): Show a0001c0002t0002g0025 a0001c0002t0002g0070 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0003g0013 a0001c0002t0003g0096 a0001c0008t0003g0098 a0001c0018t0001g0071 a0002c0005t0001g0036 a0002c0005t0001g0201 a0002c0005t0001g0209 a0003c0007t0001g0037 a0003c0007t0001g0038 a0003c0007t0001g0039 a0010c0016t0001g0272 a0018c0029t0011g0202 a0024c0045t0002g0072 a0030c0048t0003g0097	25	392	0.0638	10	c.13- others(25): Show c.13-2884_13-2875dupAAAAAAAAAA	BCAR1	ENSG00000050820.17	transcript	ENST00000162330.10	protein_coding	1/6			chr16	TogoVar
BCAR3_chr1_93556741_93686837	93560138	A A	ATGATGTC others(3): Show ATGATGTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02145.hp1 HG02630.hp1 others(2): Show HG01884.hp2 HG02145.hp1 HG02630.hp1 HG02717.hp1 HG02965.hp2	a0002 a0002	a0002c0003 a0002c0006 a0002c0003 a0002c0006	a0002c0003t0001 a0002c0003t0002 a0002c0006t0001 a0002c0003t0001 a0002c0003t0002 a0002c0006t0001	a0002c0003t0001g0096 a0002c0003t0001g0148 a0002c0003t0002g0189 others(2): Show a0002c0003t0001g0096 a0002c0003t0001g0148 a0002c0003t0002g0189 a0002c0006t0001g0009 a0002c0006t0001g0155	5	202	0.0248	10	c.21 others(21): Show c.2102_*2103insAAAGACATCA	BCAR3	ENSG00000137936.18	transcript	ENST00000260502.11	protein_coding		1602		chr1	TogoVar
BCAS1_chr20_53938541_54075594	53946505	G G	GTATATAT others(3): Show GTATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03492.hp1 HG02572.hp2 HG03492.hp1	a0006 a0019 a0006 a0019	a0006c0006 a0019c0022 a0006c0006 a0019c0022	a0006c0006t0066 a0019c0022t0012 a0006c0006t0066 a0019c0022t0012	a0006c0006t0066g0173 a0019c0022t0012g0309 a0006c0006t0066g0173 a0019c0022t0012g0309	2	364	0.0055	10	c.181 others(29): Show c.1816-1519_1816-1510dupTATATATATA	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	12/12			chr20	TogoVar
BCAS1_chr20_53938541_54075594	53954294	G G	GGAGAGAG others(3): Show GGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02027.hp2 HG02486.hp1 others(10): Show HG00140.hp2 HG02027.hp2 HG02486.hp1 HG02602.hp2 HG03654.hp2 HG04204.hp1 NA18948.hp2 NA18956.hp1 NA18960.hp2 NA18970.hp2 NA18992.hp2 NA19054.hp1 NA19083.hp1	a0001 a0004 a0014 others(2): Show a0001 a0004 a0014 a0029 a0033	a0001c0001 a0004c0004 a0014c0014 others(2): Show a0001c0001 a0004c0004 a0014c0014 a0029c0033 a0033c0045	a0001c0001t0068 a0004c0004t0003 a0014c0014t0032 others(2): Show a0001c0001t0068 a0004c0004t0003 a0014c0014t0032 a0029c0033t0003 a0033c0045t0003	a0001c0001t0068g0360 a0004c0004t0003g0079 a0004c0004t0003g0136 others(10): Show a0001c0001t0068g0360 a0004c0004t0003g0079 a0004c0004t0003g0136 a0004c0004t0003g0142 a0004c0004t0003g0157 a0004c0004t0003g0159 a0004c0004t0003g0162 a0004c0004t0003g0198 a0004c0004t0003g0199 a0004c0004t0003g0289 a0014c0014t0032g0273 a0029c0033t0003g0178 a0033c0045t0003g0165	13	364	0.0357	10	c.155 others(27): Show c.1552-609_1552-600dupTCTCTCTCTC	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	11/12			chr20	TogoVar
BCAS1_chr20_53938541_54075594	53994888	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18974.hp1 NA18975.hp2 others(4): Show NA18962.hp2 NA18974.hp1 NA18975.hp2 NA19000.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0016	a0001c0001 a0003c0003 a0005c0005 others(1): Show a0001c0001 a0003c0003 a0005c0005 a0016c0015	a0001c0001t0007 a0003c0003t0005 a0003c0003t0011 others(2): Show a0001c0001t0007 a0003c0003t0005 a0003c0003t0011 a0005c0005t0052 a0016c0015t0027	a0001c0001t0007g0014 a0001c0001t0007g0029 a0003c0003t0005g0035 others(4): Show a0001c0001t0007g0014 a0001c0001t0007g0029 a0003c0003t0005g0035 a0003c0003t0005g0066 a0003c0003t0011g0054 a0005c0005t0052g0269 a0016c0015t0027g0057	7	364	0.0192	10	c.927 others(25): Show c.927+114_927+123dupGTGTGTGTGT	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	6/12			chr20	TogoVar
BCAS1_chr20_53938541_54075594	54005302	C C	CGAAAACA others(3): Show CGAAAACAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0013 a0013	a0013c0016 a0013c0016	a0013c0016t0010 a0013c0016t0010	a0013c0016t0010g0191 a0013c0016t0010g0191	1	364	0.0028	10	c.724 others(27): Show c.724-9253_724-9252insTTTTGTTTTC	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	4/12			chr20	TogoVar
BCAS1_chr20_53938541_54075594	54005303	A A	AAAAACAA others(3): Show AAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00438.hp1 others(60): Show HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00673.hp1 HG00741.hp2 HG01099.hp1 HG01123.hp2 HG01934.hp2 HG02074.hp1 HG02074.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02258.hp2 HG02486.hp2 HG02647.hp1 HG03209.hp1 HG03669.hp1 HG03710.hp2 HG03834.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp2 NA18944.hp2 NA18948.hp1 NA18949.hp1 NA18951.hp1 NA18957.hp1 NA18962.hp1 NA18963.hp2 NA18965.hp2 NA18966.hp1 NA18969.hp2 NA18970.hp1 NA18974.hp1 NA18974.hp2 NA18981.hp2 NA18983.hp2 NA18992.hp1 NA18997.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19005.hp2 NA19060.hp1 NA19065.hp2 NA19074.hp2 NA19077.hp2 NA19079.hp2 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19091.hp2 NA20300.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0005 a0006 a0008 a0016 a0020 a0022 a0032	a0001c0001 a0002c0002 a0003c0003 others(7): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005 a0006c0006 a0008c0010 a0016c0015 a0020c0020 a0022c0041 a0032c0029	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(30): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0039 a0001c0001t0051 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0017 a0002c0002t0019 a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0003c0003t0005 a0003c0003t0007 a0003c0003t0013 a0003c0003t0014 a0005c0005t0001 a0005c0005t0002 a0005c0005t0006 a0005c0005t0052 a0006c0006t0018 a0006c0006t0027 a0008c0010t0016 a0016c0015t0027 a0016c0015t0046 a0020c0020t0005 a0022c0041t0060 a0032c0029t0005	a0001c0001t0001g0246 a0001c0001t0004g0325 a0001c0001t0004g0349 others(59): Show a0001c0001t0001g0246 a0001c0001t0004g0325 a0001c0001t0004g0349 a0001c0001t0008g0151 a0001c0001t0011g0024 a0001c0001t0014g0323 a0001c0001t0015g0334 a0001c0001t0015g0344 a0001c0001t0039g0359 a0001c0001t0051g0316 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0131 a0002c0002t0001g0148 a0002c0002t0001g0214 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0002g0195 a0002c0002t0003g0291 a0002c0002t0006g0266 a0002c0002t0017g0286 a0002c0002t0019g0196 a0003c0003t0001g0312 a0003c0003t0002g0259 a0003c0003t0004g0168 a0003c0003t0004g0207 a0003c0003t0005g0012 a0003c0003t0005g0021 a0003c0003t0005g0035 a0003c0003t0005g0043 a0003c0003t0005g0046 a0003c0003t0005g0050 a0003c0003t0005g0059 a0003c0003t0005g0060 a0003c0003t0005g0064 a0003c0003t0005g0066 a0003c0003t0007g0001 a0003c0003t0013g0016 a0003c0003t0013g0044 a0003c0003t0014g0341 a0005c0005t0001g0085 a0005c0005t0001g0102 a0005c0005t0001g0107 a0005c0005t0001g0277 a0005c0005t0002g0101 a0005c0005t0006g0120 a0005c0005t0006g0265 a0005c0005t0006g0274 a0005c0005t0006g0276 a0005c0005t0006g0279 a0005c0005t0006g0280 a0005c0005t0052g0269 a0006c0006t0018g0324 a0006c0006t0027g0022 a0008c0010t0016g0230 a0016c0015t0027g0036 a0016c0015t0027g0057 a0016c0015t0046g0065 a0020c0020t0005g0062 a0022c0041t0060g0087 a0032c0029t0005g0011	63	364	0.1731	10	c.724 others(27): Show c.724-9263_724-9254dupGTTTTGTTTT	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	4/12			chr20	TogoVar
BCAS1_chr20_53938541_54075594	54041908	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00597.hp1 others(21): Show HG00099.hp1 HG00423.hp2 HG00597.hp1 HG00733.hp1 HG00741.hp2 HG01070.hp2 HG01123.hp1 HG01361.hp1 HG02027.hp2 HG02135.hp1 HG02683.hp1 HG02738.hp1 NA18943.hp1 NA18944.hp2 NA18970.hp2 NA18992.hp2 NA19003.hp2 NA19006.hp1 NA19054.hp1 NA19060.hp2 NA19086.hp2 NA19087.hp2 NA19090.hp1 NA20300.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0006 a0012 a0021 a0033	a0001c0001 a0002c0002 a0004c0004 others(4): Show a0001c0001 a0002c0002 a0004c0004 a0006c0006 a0012c0013 a0021c0023 a0033c0045	a0001c0001t0002 a0001c0001t0015 a0001c0001t0049 others(13): Show a0001c0001t0002 a0001c0001t0015 a0001c0001t0049 a0002c0002t0001 a0002c0002t0002 a0002c0002t0042 a0002c0002t0057 a0004c0004t0001 a0004c0004t0003 a0004c0004t0038 a0004c0004t0065 a0006c0006t0025 a0006c0006t0026 a0012c0013t0047 a0021c0023t0036 a0033c0045t0003	a0001c0001t0002g0221 a0001c0001t0015g0344 a0001c0001t0049g0339 others(21): Show a0001c0001t0002g0221 a0001c0001t0015g0344 a0001c0001t0049g0339 a0002c0002t0001g0148 a0002c0002t0001g0214 a0002c0002t0001g0217 a0002c0002t0002g0306 a0002c0002t0042g0052 a0002c0002t0057g0090 a0004c0004t0001g0185 a0004c0004t0003g0086 a0004c0004t0003g0089 a0004c0004t0003g0142 a0004c0004t0003g0157 a0004c0004t0003g0161 a0004c0004t0003g0164 a0004c0004t0003g0198 a0004c0004t0038g0160 a0004c0004t0065g0105 a0006c0006t0025g0174 a0006c0006t0026g0063 a0012c0013t0047g0351 a0021c0023t0036g0328 a0033c0045t0003g0165	24	364	0.0659	10	c.143 others(29): Show c.143-12937_143-12936insTTTTTTTTTT	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	3/12			chr20	TogoVar
BCAS2_chr1_114562557_114586615	114583493	A A	AAAACACA others(3): Show AAAACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02622.hp1 HG02886.hp1 others(5): Show HG02109.hp1 HG02622.hp1 HG02886.hp1 HG02922.hp1 HG02965.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 others(5): Show a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0210 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0005g0211	8	414	0.0193	10	c.-19 others(21): Show c.-1903_-1902insGTGTGTGTTT	BCAS2	ENSG00000116752.6	transcript	ENST00000369541.4	protein_coding		1879		chr1	TogoVar
BCAS2_chr1_114562557_114586615	114583493	A A	AACACACA others(3): Show AACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	414	0.0024	10	c.-19 others(21): Show c.-1912_-1903dupGTGTGTGTGT	BCAS2	ENSG00000116752.6	transcript	ENST00000369541.4	protein_coding		1879		chr1	TogoVar
BCAS3_chr17_60672851_61397831	60731780	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01891.hp1 HG01952.hp2 others(9): Show HG01099.hp1 HG01891.hp1 HG01952.hp2 HG02615.hp1 HG02809.hp1 HG02886.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03579.hp1 NA20129.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0004 a0003c0001 others(1): Show a0001c0002 a0001c0004 a0003c0001 a0003c0010	a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 others(4): Show a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0004t0002 a0003c0001t0001 a0003c0001t0002 a0003c0010t0002	a0001c0002t0001g0056 a0001c0002t0002g0053 a0001c0002t0002g0054 others(9): Show a0001c0002t0001g0056 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0057 a0001c0004t0001g0043 a0001c0004t0001g0045 a0001c0004t0001g0047 a0001c0004t0001g0049 a0001c0004t0002g0044 a0003c0001t0001g0028 a0003c0001t0002g0022 a0003c0010t0002g0023	12	74	0.1622	10	c.322 others(29): Show c.322-15411_322-15402dupTTTTTTTTTT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	60757394	A A	ATGTGTGT others(3): Show ATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0071 a0001c0002t0001g0071	1	74	0.0135	10	c.403 others(29): Show c.403+10149_403+10158dupGTGTGTGTGT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	60786547	G G	GTATATAC others(3): Show GTATATACATA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0019 a0002c0005t0001g0019	1	74	0.0135	10	c.404 others(29): Show c.404-21451_404-21450insCATATATATA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	60799520	G G	GTTTTTTT others(3): Show GTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02451.hp1 HG02615.hp2 others(1): Show HG02145.hp2 HG02451.hp1 HG02615.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0002 a0001c0002t0001 a0001c0004t0002	a0001c0002t0001g0059 a0001c0002t0001g0063 a0001c0002t0001g0071 others(1): Show a0001c0002t0001g0059 a0001c0002t0001g0063 a0001c0002t0001g0071 a0001c0004t0002g0072	4	74	0.0541	10	c.404 others(27): Show c.404-8481_404-8480insTTTTTTTTTT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	60802371	C C	CATATATA others(3): Show CATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03225.hp1 HG03453.hp2 others(1): Show HG02809.hp1 HG03225.hp1 HG03453.hp2 HG03579.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0003c0001 a0001c0004 a0003c0001	a0001c0004t0001 a0003c0001t0001 a0003c0001t0002 a0001c0004t0001 a0003c0001t0001 a0003c0001t0002	a0001c0004t0001g0034 a0001c0004t0001g0058 a0003c0001t0001g0028 others(1): Show a0001c0004t0001g0034 a0001c0004t0001g0058 a0003c0001t0001g0028 a0003c0001t0002g0022	4	74	0.0541	10	c.404 others(27): Show c.404-5624_404-5615dupATATATATAT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	60814298	T T	TGCGCGCG others(3): Show TGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03471.hp1 HG02809.hp2 HG03471.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0021 a0003c0001t0001g0024 a0003c0001t0001g0021 a0003c0001t0001g0024	2	74	0.0270	10	c.476 others(27): Show c.476+6223_476+6224insCGCGCGCGCG	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	7/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	60814298	T T	TGCGCGCG others(3): Show TGCGCGCGTGC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02809.hp1 HG02970.hp1 others(4): Show HG01891.hp1 HG02809.hp1 HG02970.hp1 HG03041.hp1 HG03453.hp2 NA20129.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0003c0001 a0001c0004 a0003c0001	a0001c0004t0001 a0001c0004t0002 a0003c0001t0002 a0001c0004t0001 a0001c0004t0002 a0003c0001t0002	a0001c0004t0001g0034 a0001c0004t0001g0043 a0001c0004t0001g0045 others(4): Show a0001c0004t0001g0034 a0001c0004t0001g0043 a0001c0004t0001g0045 a0001c0004t0001g0047 a0001c0004t0001g0049 a0001c0004t0002g0044 a0003c0001t0002g0022	7	74	0.0946	10	c.476 others(27): Show c.476+6223_476+6224insCGCGCGTGCG	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	7/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	60814306	T T	TGCGCGTG others(3): Show TGCGCGTGCGC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0074 a0002c0005t0002g0074	1	74	0.0135	10	c.476 others(27): Show c.476+6235_476+6236insTGCGCGCGCG	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	7/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	60814306	T T	TGTGTGTG others(3): Show TGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0031 a0003c0001t0001g0031	1	74	0.0135	10	c.476 others(27): Show c.476+6231_476+6232insTGTGTGCGCG	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	7/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	60841546	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01099.hp1 HG01952.hp2 others(2): Show HG00639.hp1 HG01099.hp1 HG01952.hp2 HG02965.hp2 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0006 a0003c0010 a0001c0002 a0002c0006 a0003c0010	a0001c0002t0002 a0002c0006t0002 a0003c0010t0002 a0001c0002t0002 a0002c0006t0002 a0003c0010t0002	a0001c0002t0002g0054 a0001c0002t0002g0057 a0002c0006t0002g0027 others(2): Show a0001c0002t0002g0054 a0001c0002t0002g0057 a0002c0006t0002g0027 a0002c0006t0002g0030 a0003c0010t0002g0023	5	74	0.0676	10	c.477 others(29): Show c.477-27020_477-27011dupTTTTTTTTTT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	7/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	60854949	G G	GTTTTTTT others(3): Show GTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0040 a0002c0003t0001g0040	1	74	0.0135	10	c.477 others(29): Show c.477-13615_477-13606dupTTTTTTTTTT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	7/23		INFO_REALIGN_3_PRIME	chr17	TogoVar

Search by Variant

Search

Search Results