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
BCAS3_chr17_60672851_61397831	61375246	G G	GTGTGTGC others(11): Show GTGTGTGCGCGCGCGCACA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03453.hp2 HG02809.hp2 HG03453.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0003c0001 a0001c0004 a0003c0001	a0001c0004t0001 a0003c0001t0001 a0001c0004t0001 a0003c0001t0001	a0001c0004t0001g0034 a0003c0001t0001g0021 a0001c0004t0001g0034 a0003c0001t0001g0021	2	52	0.0385	18	c.259 others(37): Show c.2593+6758_2593+6759insCGCGCGCGCACATGTGTG	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS4_chr20_50790061_50882177	50853797	A A	GTGTTTTG others(11): Show GTGTTTTGTGTACTGGGGA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0196 a0001c0001t0002g0196	1	149	0.0067	18	c.399 others(37): Show c.399+11879_399+11896dupGTGTTTTGTGTACTGGGG	BCAS4	ENSG00000124243.19	transcript	ENST00000371608.8	protein_coding	4/4			chr20	TogoVar
BCAT1_chr12_24805024_24954101	24836823	A A	AAGGAAGG others(11): Show AAGGAAGGAAGGAAGAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00544.hp1 others(88): Show HG00099.hp1 HG00140.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00642.hp1 HG00673.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01358.hp1 HG01361.hp2 HG01515.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02040.hp1 HG02071.hp1 HG02080.hp2 HG02109.hp1 HG02135.hp2 HG02165.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02738.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03209.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03579.hp2 HG03710.hp1 HG03831.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18522.hp1 NA18906.hp1 NA18940.hp2 NA18941.hp1 NA18944.hp2 NA18956.hp2 NA18961.hp2 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18971.hp2 NA18992.hp2 NA19030.hp2 NA19057.hp2 NA19063.hp2 NA19066.hp2 NA19083.hp2 NA19085.hp2 NA20129.hp2 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(43): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0017 a0001c0001t0021 a0001c0001t0025 a0001c0001t0027 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0045 a0001c0001t0051 a0001c0001t0053 a0001c0001t0060 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0076 a0001c0001t0077 a0001c0001t0080 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0093 a0001c0001t0095 a0001c0001t0096 a0001c0001t0121 a0001c0001t0122 a0001c0001t0123 a0001c0002t0020 a0001c0002t0030	a0001c0001t0001g0064 a0001c0001t0001g0094 a0001c0001t0001g0291 others(88): Show a0001c0001t0001g0064 a0001c0001t0001g0094 a0001c0001t0001g0291 a0001c0001t0002g0103 a0001c0001t0003g0003 a0001c0001t0003g0025 a0001c0001t0003g0034 a0001c0001t0003g0048 a0001c0001t0003g0074 a0001c0001t0003g0080 a0001c0001t0003g0134 a0001c0001t0003g0212 a0001c0001t0003g0215 a0001c0001t0003g0240 a0001c0001t0003g0242 a0001c0001t0003g0277 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0187 a0001c0001t0004g0202 a0001c0001t0004g0208 a0001c0001t0004g0209 a0001c0001t0004g0232 a0001c0001t0004g0281 a0001c0001t0004g0283 a0001c0001t0006g0220 a0001c0001t0006g0222 a0001c0001t0006g0224 a0001c0001t0006g0225 a0001c0001t0006g0226 a0001c0001t0006g0228 a0001c0001t0006g0237 a0001c0001t0006g0279 a0001c0001t0008g0058 a0001c0001t0009g0044 a0001c0001t0009g0045 a0001c0001t0009g0078 a0001c0001t0010g0214 a0001c0001t0012g0176 a0001c0001t0017g0026 a0001c0001t0017g0027 a0001c0001t0017g0028 a0001c0001t0017g0033 a0001c0001t0021g0087 a0001c0001t0021g0293 a0001c0001t0021g0294 a0001c0001t0025g0211 a0001c0001t0025g0231 a0001c0001t0025g0282 a0001c0001t0027g0021 a0001c0001t0031g0139 a0001c0001t0031g0276 a0001c0001t0032g0243 a0001c0001t0032g0272 a0001c0001t0033g0185 a0001c0001t0033g0186 a0001c0001t0034g0258 a0001c0001t0036g0107 a0001c0001t0036g0254 a0001c0001t0038g0201 a0001c0001t0038g0216 a0001c0001t0039g0008 a0001c0001t0040g0274 a0001c0001t0045g0312 a0001c0001t0045g0313 a0001c0001t0051g0199 a0001c0001t0053g0174 a0001c0001t0060g0097 a0001c0001t0064g0065 a0001c0001t0065g0086 a0001c0001t0066g0153 a0001c0001t0071g0088 a0001c0001t0072g0075 a0001c0001t0073g0156 a0001c0001t0076g0031 a0001c0001t0077g0002 a0001c0001t0080g0050 a0001c0001t0083g0099 a0001c0001t0084g0255 a0001c0001t0085g0038 a0001c0001t0086g0022 a0001c0001t0093g0073 a0001c0001t0095g0059 a0001c0001t0096g0049 a0001c0001t0121g0317 a0001c0001t0122g0308 a0001c0001t0123g0314 a0001c0002t0020g0043 a0001c0002t0020g0069 a0001c0002t0020g0172 a0001c0002t0030g0241	91	311	0.2926	18	c.818 others(33): Show c.818-228_818-227insCTTTCTTCCTTCCTTCCT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	7/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24836826	G G	GAAGGAAG others(11): Show GAAGGAAGGAAGAAAGAGC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02615.hp1 HG02572.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0087 a0001c0001t0008 a0001c0001t0087	a0001c0001t0008g0055 a0001c0001t0087g0154 a0001c0001t0008g0055 a0001c0001t0087g0154	2	320	0.0063	18	c.818 others(33): Show c.818-231_818-230insGCTCTTTCTTCCTTCCTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	7/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24887080	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA19030.hp2 HG03540.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0056 a0001c0001t0027 a0001c0001t0056	a0001c0001t0027g0021 a0001c0001t0056g0190 a0001c0001t0027g0021 a0001c0001t0056g0190	2	170	0.0118	18	c.280 others(35): Show c.280-5670_280-5669insATATATTTTTTTTTTTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	3/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24887080	A A	AAAAAAAA others(11): Show AAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA19057.hp1 NA18995.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0132 a0001c0001t0005g0137 a0001c0001t0005g0132 a0001c0001t0005g0137	2	170	0.0118	18	c.280 others(35): Show c.280-5670_280-5669insATATATATTTTTTTTTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	3/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24887080	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0031 a0001c0001t0076g0031	1	169	0.0059	18	c.280 others(35): Show c.280-5687_280-5670dupATATATATATATATATAT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	3/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24936712	A A	ATCTCTCT others(11): Show ATCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0162 a0001c0001t0034g0162	1	123	0.0081	18	c.6+1 others(33): Show c.6+12214_6+12215insGAGAGAGAGAGAGAGAGA	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	1/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24936723	T T	TCTCTCTC others(11): Show TCTCTCTCACACACACACA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0091 a0001c0001t0091	a0001c0001t0091g0124 a0001c0001t0091g0124	1	272	0.0037	18	c.6+1 others(33): Show c.6+12203_6+12204insTGTGTGTGTGTGAGAGAG	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	1/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24952579	G G	GGACTTAC others(11): Show GGACTTACATTTGGAATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0300 a0001c0001t0011g0300	1	320	0.0031	18	c.-36 others(29): Show c.-3648_-3647insTTATTCCAAATGTAAGTC	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding		3479		chr12	TogoVar
BCAT2_chr19_48790064_48816029	48811494	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00642.hp1 HG01123.hp2 others(15): Show HG00423.hp2 HG00642.hp1 HG01123.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG02004.hp2 HG02071.hp1 HG02735.hp2 NA18955.hp1 NA18980.hp2 NA18981.hp2 NA19007.hp2 NA19009.hp1 NA19067.hp2 NA19079.hp1 NA19087.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0017 others(9): Show a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0033 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059	18	121	0.1488	18	c.-48 others(27): Show c.-488_-487insTTTTTTTTTTTTTTTTTT	BCAT2	ENSG00000105552.15	transcript	ENST00000316273.11	protein_coding		466		chr19	TogoVar
BCKDHA_chr19_41392818_41430002	41412380	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01074.hp1 HG01243.hp1 others(8): Show HG00738.hp1 HG01074.hp1 HG01243.hp1 HG01255.hp2 HG02451.hp2 HG02886.hp1 HG02897.hp2 NA18954.hp1 NA19063.hp2 NA20129.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0136 a0001c0001t0001g0158 a0001c0001t0001g0164 others(7): Show a0001c0001t0001g0136 a0001c0001t0001g0158 a0001c0001t0001g0164 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0210 a0001c0001t0001g0246 a0002c0003t0001g0039 a0002c0003t0001g0182 a0002c0003t0001g0250	11	140	0.0786	18	c.375 others(35): Show c.375+1372_375+1389dupTTTTTTTTTTTTTTTTTT	BCKDHA	ENSG00000248098.12	transcript	ENST00000269980.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
BCKDK_chr16_31103386_31117791	31103564	A A	ACTCTCCC others(11): Show ACTCTCCCTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	252	0.0040	18	c.-50 others(29): Show c.-5093_-5092insCTCTCCCTCTCCCTCTCC	BCKDK	ENSG00000103507.14	transcript	ENST00000219794.11	protein_coding		4821		chr16	TogoVar
BCKDK_chr16_31103386_31117791	31103577	C C	CTCTCCGT others(11): Show CTCTCCGTCTCCGTCTCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	284	0.0035	18	c.-50 others(29): Show c.-5080_-5079insTCTCCGTCTCCGTCTCCG	BCKDK	ENSG00000103507.14	transcript	ENST00000219794.11	protein_coding		4808		chr16	TogoVar
BCKDK_chr16_31103386_31117791	31103583	C C	CTCTCCGT others(11): Show CTCTCCGTCTCCGTCTCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 NA18973.hp1 NA18973.hp2 others(3): Show HG00438.hp2 NA18973.hp1 NA18973.hp2 NA18986.hp2 NA19063.hp1 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	6	193	0.0311	18	c.-50 others(29): Show c.-5074_-5073insTCTCCGTCTCCGTCTCCG	BCKDK	ENSG00000103507.14	transcript	ENST00000219794.11	protein_coding		4802		chr16	TogoVar
BCKDK_chr16_31103386_31117791	31103589	C C	CTCTCCGT others(11): Show CTCTCCGTCTCCGTCTCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	167	0.0060	18	c.-50 others(29): Show c.-5068_-5067insTCTCCGTCTCCGTCTCCG	BCKDK	ENSG00000103507.14	transcript	ENST00000219794.11	protein_coding		4796		chr16	TogoVar
BCKDK_chr16_31103386_31117791	31103595	C C	CTCTCCCT others(11): Show CTCTCCCTCTCCCTCTCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	136	0.0074	18	c.-50 others(29): Show c.-5062_-5061insTCTCCCTCTCCCTCTCCG	BCKDK	ENSG00000103507.14	transcript	ENST00000219794.11	protein_coding		4790		chr16	TogoVar
BCL11A_chr2_60452194_60558654	60467147	A A	ATGGTGGT others(11): Show ATGGTGGTGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0184 a0001c0001t0015g0184	1	254	0.0039	18	c.487 others(35): Show c.487+1567_487+1584dupCCACCACCACCACCACCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60467461	G G	GGTGATGG others(11): Show GGTGATGGTGGTGGTGGTA	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0207 a0001c0001t0057g0207	1	141	0.0071	18	c.487 others(35): Show c.487+1270_487+1271insTACCACCACCACCATCAC	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60467504	A A	ATGGTAGT others(11): Show ATGGTAGTGATGGTGGTGG	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0084 a0001c0001t0004g0084	1	181	0.0055	18	c.487 others(35): Show c.487+1227_487+1228insCCACCACCATCACTACCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL11B_chr14_99164287_99277197	99199683	T T	TGCGCGCG others(11): Show TGCGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	246	0.0041	18	c.641 others(37): Show c.641-23489_641-23488insGCGCGCGCGCGCGCGCGC	BCL11B	ENSG00000127152.18	transcript	ENST00000357195.8	protein_coding	3/3			chr14	TogoVar
BCL11B_chr14_99164287_99277197	99199683	T T	TGTGTGTG others(11): Show TGTGTGTGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG04199.hp2 HG03942.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0275 a0001c0001t0003g0285 a0001c0001t0003g0275 a0001c0001t0003g0285	2	247	0.0081	18	c.641 others(37): Show c.641-23489_641-23488insGCGCGCGCGCGCACACAC	BCL11B	ENSG00000127152.18	transcript	ENST00000357195.8	protein_coding	3/3			chr14	TogoVar
BCL11B_chr14_99164287_99277197	99199683	T T	TGTGTGTG others(11): Show TGTGTGTGTGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0164 a0001c0001t0025g0164	1	246	0.0041	18	c.641 others(37): Show c.641-23489_641-23488insGCGCGCGCGCACACACAC	BCL11B	ENSG00000127152.18	transcript	ENST00000357195.8	protein_coding	3/3			chr14	TogoVar
BCL11B_chr14_99164287_99277197	99217371	T T	TACACACA others(11): Show TACACACACATACAGACAC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01099.hp2 others(6): Show HG01070.hp2 HG01071.hp2 HG01099.hp2 HG01123.hp1 HG01496.hp1 HG01516.hp2 HG02559.hp2 HG03225.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0018 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0018 a0001c0001t0026 a0001c0002t0003 a0001c0002t0004	a0001c0001t0001g0209 a0001c0001t0001g0251 a0001c0001t0005g0326 others(6): Show a0001c0001t0001g0209 a0001c0001t0001g0251 a0001c0001t0005g0326 a0001c0001t0005g0332 a0001c0001t0018g0021 a0001c0001t0026g0303 a0001c0001t0026g0311 a0001c0002t0003g0218 a0001c0002t0004g0092	9	348	0.0259	18	c.640 others(37): Show c.640+13956_640+13973dupGTGTCTGTATGTGTGTGT	BCL11B	ENSG00000127152.18	transcript	ENST00000357195.8	protein_coding	3/3			chr14	TogoVar
BCL2A1_chr15_79955892_79976196	79959784	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0020 a0004c0004t0001g0020	1	340	0.0029	18	c.12 others(29): Show c.1282_*1283insTTTTTTTTTTTTTTTTTT	BCL2A1	ENSG00000140379.9	transcript	ENST00000267953.4	protein_coding		1107		chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52111173	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp2 HG02273.hp2 others(7): Show HG01346.hp1 HG01346.hp2 HG02273.hp2 HG02300.hp2 HG02451.hp1 HG02922.hp1 NA18995.hp1 NA19080.hp1 NA19089.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0002c0002t0003 others(1): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006	a0001c0001t0001g0059 a0001c0001t0001g0136 a0001c0001t0001g0148 others(4): Show a0001c0001t0001g0059 a0001c0001t0001g0136 a0001c0001t0001g0148 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0003g0093 a0002c0002t0006g0090	10	76	0.1316	18	c.489 others(35): Show c.489+1047_489+1064dupGTGTGTGTGTGTGTGTGT	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding	1/1			chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(11): Show ATATATATTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0031 a0002c0002t0006g0031	1	219	0.0046	18	c.-43 others(29): Show c.-4377_-4376insAAAAAAAAAAAATATATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L11_chr2_111115914_111173444	111120979	T T	TGCCGCTG others(11): Show TGCCGCTGCCGCCGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00140.hp2 HG02970.hp2 HG03579.hp1 HG00140.hp2 HG02970.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009	a0001c0001t0003g0037 a0001c0001t0004g0019 a0001c0001t0009g0203 a0001c0001t0003g0037 a0001c0001t0004g0019 a0001c0001t0009g0203	3	47	0.0638	18	c.-21 others(27): Show c.-218_-217insTGCCGCCGCCGCCGCCGC	BCL2L11	ENSG00000153094.25	transcript	ENST00000393256.8	protein_coding	1/4	2761	INFO_REALIGN_3_PRIME	chr2	TogoVar
BCL2L11_chr2_111115914_111173444	111147327	A A	ATCTCTCT others(11): Show ATCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0135 a0001c0001t0010g0135	1	264	0.0038	18	c.395 others(35): Show c.395-2714_395-2697dupTCTCTCTCTCTCTCTCTC	BCL2L11	ENSG00000153094.25	transcript	ENST00000393256.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
BCL2L11_chr2_111115914_111173444	111147346	T T	TCTCTCTC others(11): Show TCTCTCTCACACACACACA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02129.hp2 HG00558.hp1 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0209 a0001c0001t0002g0017 a0001c0001t0002g0209	2	221	0.0090	18	c.395 others(35): Show c.395-2697_395-2696insTCTCTCACACACACACAC	BCL2L11	ENSG00000153094.25	transcript	ENST00000393256.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
BCL2L11_chr2_111115914_111173444	111170699	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00558.hp2 HG02683.hp2 others(5): Show HG00408.hp2 HG00558.hp2 HG02683.hp2 HG03098.hp2 NA18968.hp1 NA18977.hp2 NA19079.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0115 a0001c0001t0004g0012 a0001c0001t0004g0044 others(4): Show a0001c0001t0001g0115 a0001c0001t0004g0012 a0001c0001t0004g0044 a0001c0001t0004g0196 a0001c0001t0004g0237 a0001c0001t0004g0239 a0001c0001t0004g0248	8	71	0.1127	18	c.64 others(29): Show c.6468_*6469insAAAAAAAAAAAAAAAAAA	BCL2L11	ENSG00000153094.25	transcript	ENST00000393256.8	protein_coding		2256		chr2	TogoVar
BCL2L13_chr22_17633757_17735855	17703168	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0009 a0001c0002t0012g0009	1	297	0.0034	18	c.600 others(33): Show c.600+783_600+784insCACACACACACACACACA	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17715122	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0257 a0001c0002t0001g0257	1	265	0.0038	18	c.601 others(37): Show c.601-11523_601-11506dupATATATATATATATATAT	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17715170	A A	ATATATAT others(11): Show ATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0265 a0002c0003t0001g0265	1	251	0.0040	18	c.601 others(37): Show c.601-11506_601-11505insATATATATATATATATTT	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L1_chr20_31659458_31727868	31667484	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01071.hp1 HG01884.hp2 others(24): Show HG00741.hp1 HG01071.hp1 HG01884.hp2 HG02055.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02451.hp2 HG02572.hp2 HG02602.hp1 HG02723.hp1 HG02809.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03704.hp2 HG06807.hp2 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0037 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0148 a0001c0001t0001g0168	27	67	0.4030	18	c.565 others(35): Show c.565-1416_565-1399dupACACACACACACACACAC	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
BCL2_chr18_63118346_63324769	63169369	C C	CTTTCTTT others(11): Show CTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01515.hp2 HG01993.hp1 HG01496.hp1 HG01515.hp2 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0007 a0001c0002t0009 a0001c0001t0003 a0001c0001t0007 a0001c0002t0009	a0001c0001t0003g0225 a0001c0001t0007g0209 a0001c0002t0009g0087 a0001c0001t0003g0225 a0001c0001t0007g0209 a0001c0002t0009g0087	3	185	0.0162	18	c.586 others(37): Show c.586-40611_586-40610insAAGAAAGAAAGAAAGAAA	BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2			chr18	TogoVar
BCL2_chr18_63118346_63324769	63203685	C C	CGCACACA others(11): Show CGCACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02965.hp2 HG03098.hp1 HG01884.hp2 HG02965.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0159 a0001c0001t0001g0238 a0001c0001t0018g0160 a0001c0001t0001g0159 a0001c0001t0001g0238 a0001c0001t0018g0160	3	262	0.0115	18	c.586 others(37): Show c.586-74944_586-74927dupATGTGTGTGTGTGTGTGC	BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2			chr18	TogoVar
BCL2_chr18_63118346_63324769	63266637	T T	TCTCTCAC others(11): Show TCTCTCACACACACACACA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0254 a0001c0001t0056g0254	1	227	0.0044	18	c.585 others(37): Show c.585+51444_585+51445insTGTGTGTGTGTGTGAGAG	BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2			chr18	TogoVar
BCL2_chr18_63118346_63324769	63266637	T T	TCTCTCTC others(11): Show TCTCTCTCTCTCACACACA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0244 a0001c0001t0003g0244	1	227	0.0044	18	c.585 others(37): Show c.585+51444_585+51445insTGTGTGTGAGAGAGAGAG	BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2			chr18	TogoVar
BCL2_chr18_63118346_63324769	63266637	T T	TCTCTCTC others(11): Show TCTCTCTCTCTCTCACACA	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA19087.hp2 HG00621.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0006 a0001c0004t0008 a0001c0001t0006 a0001c0004t0008	a0001c0001t0006g0030 a0001c0004t0008g0042 a0001c0001t0006g0030 a0001c0004t0008g0042	2	228	0.0088	18	c.585 others(37): Show c.585+51444_585+51445insTGTGTGAGAGAGAGAGAG	BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2			chr18	TogoVar
BCL2_chr18_63118346_63324769	63320055	C C	CGCGGCGG others(11): Show CGCGGCGGGGCCACGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0090 a0001c0002t0002g0090	1	262	0.0038	18	c.-11 others(29): Show c.-1186_-1169dupTCTCCGTGGCCCCGCCGC	BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding		287		chr18	TogoVar
BCL2_chr18_63118346_63324769	63320094	G G	GGCGGGCG others(11): Show GGCGGGCGGGCAGCGCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0235 a0001c0001t0010g0235	1	262	0.0038	18	c.-12 others(29): Show c.-1208_-1207insGCCGCGCTGCCCGCCCGC	BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding		326		chr18	TogoVar
BCL9_chr1_147536501_147631216	147539155	T T	TAAGTCGA others(11): Show TAAGTCGACCCTTTATGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0113 a0002c0002t0001g0113	1	314	0.0032	18	c.-29 others(29): Show c.-2997_-2996insAAGTCGACCCTTTATGCA	BCL9	ENSG00000116128.12	transcript	ENST00000234739.8	protein_coding		2345		chr1	TogoVar
BCL9_chr1_147536501_147631216	147540231	T T	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG02074.hp2 HG03195.hp1 others(4): Show HG01981.hp2 HG02074.hp2 HG03195.hp1 NA19012.hp1 NA19064.hp2 NA19077.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009	a0001c0001t0003g0023 a0001c0001t0005g0040 a0001c0001t0005g0075 others(4): Show a0001c0001t0003g0023 a0001c0001t0005g0040 a0001c0001t0005g0075 a0001c0001t0005g0079 a0001c0001t0005g0081 a0001c0001t0005g0155 a0001c0001t0009g0231	7	13	0.5385	18	c.-19 others(29): Show c.-1921_-1920insTCTCTCTCTCTCTCTCTC	BCL9	ENSG00000116128.12	transcript	ENST00000234739.8	protein_coding		1269		chr1	TogoVar
BCL9_chr1_147536501_147631216	147577834	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0026	1	98	0.0102	18	c.-47 others(39): Show c.-477-26923_-477-26906dupGTGTGTGTGTGTGTGTGT	BCL9	ENSG00000116128.12	transcript	ENST00000234739.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
BCLAF1_chr6_136251627_136294846	136279026	C C	CACACACA others(11): Show CACACACACACACACACGT	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0109 a0001c0001t0012g0109	1	293	0.0034	18	c.105 others(33): Show c.105-251_105-250insACGTGTGTGTGTGTGTGT	BCLAF1	ENSG00000029363.17	transcript	ENST00000531224.6	protein_coding	3/12			chr6	TogoVar
BCLAF1_chr6_136251627_136294846	136284130	G G	GTGTATAT others(11): Show GTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0112 a0001c0001t0008g0112	1	79	0.0127	18	c.-11 others(37): Show c.-114-1444_-114-1443insTATATATATATATATACA	BCLAF1	ENSG00000029363.17	transcript	ENST00000531224.6	protein_coding	1/12			chr6	TogoVar
BCO1_chr16_81233689_81296142	81235182	A A	ATATATAT others(11): Show ATATATATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	394	0.0025	18	c.-37 others(29): Show c.-3727_-3726insTATATATATATATATATT	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding		3506		chr16	TogoVar
BCO1_chr16_81233689_81296142	81270692	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA20129.hp2 HG04184.hp2 NA20129.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0021 a0001c0001 a0011c0021	a0001c0001t0001 a0011c0021t0001 a0001c0001t0001 a0011c0021t0001	a0001c0001t0001g0328 a0011c0021t0001g0390 a0001c0001t0001g0328 a0011c0021t0001g0390	2	13	0.1538	18	c.110 others(35): Show c.1101+287_1101+304dupTGTGTGTGTGTGTGTGTG	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
BCO1_chr16_81233689_81296142	81284261	T T	TTTATATA others(11): Show TTTATATATTTATATATAA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0012 a0002c0004t0001g0012	1	396	0.0025	18	c.120 others(37): Show c.1208-1279_1208-1278insTTATATATTTATATATAA	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding	8/10			chr16	TogoVar

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