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
JPH3_chr16_87597508_87703156	87620457	A A	AGAGAGAG others(14): Show AGAGAGAGAGAGAGAAGGAGAG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0269 a0001c0023t0001g0270 a0001c0023t0001g0269 a0001c0023t0001g0270	2	380	0.0053	21	c.382 others(40): Show c.382+16936_382+16937insAGAGAGAAGGAGAGGAGAGAG	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
JPH3_chr16_87597508_87703156	87620457	A A	AGAGAGAG others(14): Show AGAGAGAGGGAGAGAAGGAGAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00609.hp1 HG00621.hp2 others(67): Show HG00408.hp1 HG00609.hp1 HG00621.hp2 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp2 HG01123.hp2 HG01192.hp2 HG01243.hp1 HG01346.hp1 HG01496.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp2 HG01981.hp2 HG01993.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02165.hp1 HG02165.hp2 HG02293.hp1 HG02451.hp2 HG02523.hp1 HG02622.hp1 HG02630.hp2 HG02809.hp2 HG02886.hp1 HG02922.hp2 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03516.hp2 HG03540.hp1 HG03669.hp1 HG03688.hp2 HG03710.hp2 HG03942.hp1 HG04199.hp1 HG04204.hp2 NA18747.hp1 NA18944.hp2 NA18951.hp2 NA18955.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18978.hp2 NA18980.hp1 NA18990.hp2 NA18993.hp2 NA18997.hp2 NA19043.hp1 NA19063.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0032 a0001c0033 a0001c0034 a0001c0047 a0001c0048 a0001c0050 a0002c0015 a0009c0030	a0001c0001t0001 a0001c0001t0004 a0001c0001t0022 others(31): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0022 a0001c0001t0038 a0001c0002t0001 a0001c0002t0006 a0001c0002t0008 a0001c0003t0001 a0001c0004t0001 a0001c0004t0004 a0001c0005t0001 a0001c0005t0003 a0001c0005t0008 a0001c0005t0011 a0001c0006t0001 a0001c0007t0018 a0001c0007t0031 a0001c0008t0001 a0001c0009t0001 a0001c0009t0003 a0001c0010t0002 a0001c0011t0002 a0001c0012t0001 a0001c0012t0002 a0001c0013t0003 a0001c0013t0005 a0001c0032t0019 a0001c0033t0003 a0001c0034t0001 a0001c0047t0001 a0001c0048t0006 a0001c0050t0001 a0002c0015t0001 a0009c0030t0001	a0001c0001t0001g0036 a0001c0001t0001g0123 a0001c0001t0001g0204 others(67): Show a0001c0001t0001g0036 a0001c0001t0001g0123 a0001c0001t0001g0204 a0001c0001t0001g0241 a0001c0001t0001g0250 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0004g0054 a0001c0001t0004g0189 a0001c0001t0004g0215 a0001c0001t0022g0104 a0001c0001t0038g0157 a0001c0002t0001g0003 a0001c0002t0001g0106 a0001c0002t0001g0127 a0001c0002t0001g0133 a0001c0002t0001g0180 a0001c0002t0001g0196 a0001c0002t0001g0271 a0001c0002t0001g0290 a0001c0002t0001g0346 a0001c0002t0001g0347 a0001c0002t0001g0353 a0001c0002t0006g0154 a0001c0002t0008g0287 a0001c0003t0001g0110 a0001c0003t0001g0138 a0001c0003t0001g0343 a0001c0003t0001g0344 a0001c0003t0001g0348 a0001c0003t0001g0372 a0001c0004t0001g0041 a0001c0004t0001g0053 a0001c0004t0001g0067 a0001c0004t0001g0132 a0001c0004t0001g0202 a0001c0004t0001g0218 a0001c0004t0004g0285 a0001c0005t0001g0014 a0001c0005t0001g0314 a0001c0005t0003g0013 a0001c0005t0008g0143 a0001c0005t0011g0377 a0001c0006t0001g0051 a0001c0006t0001g0096 a0001c0007t0018g0375 a0001c0007t0031g0345 a0001c0008t0001g0015 a0001c0008t0001g0147 a0001c0008t0001g0313 a0001c0008t0001g0370 a0001c0009t0001g0065 a0001c0009t0003g0146 a0001c0010t0002g0049 a0001c0011t0002g0234 a0001c0012t0001g0356 a0001c0012t0002g0310 a0001c0013t0003g0150 a0001c0013t0005g0315 a0001c0032t0019g0376 a0001c0033t0003g0093 a0001c0034t0001g0025 a0001c0047t0001g0162 a0001c0048t0006g0098 a0001c0050t0001g0242 a0002c0015t0001g0030 a0002c0015t0001g0068 a0009c0030t0001g0209	70	380	0.1842	21	c.382 others(40): Show c.382+16930_382+16950dupGAGAGAGGGAGAGAAGGAGAG	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
JPH3_chr16_87597508_87703156	87620458	G G	GAGAGAGG others(14): Show GAGAGAGGGAGAGAAGGAGAGA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0009 a0002c0015t0009	a0002c0015t0009g0181 a0002c0015t0009g0181	1	380	0.0026	21	c.382 others(40): Show c.382+16943_382+16963dupAAGGAGAGAAGAGAGGGAGAG	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
JPH3_chr16_87597508_87703156	87620472	A A	AGGAGAGG others(14): Show AGGAGAGGAGAGAGGGAGAGGG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0118 a0001c0004t0001g0118	1	380	0.0026	21	c.382 others(40): Show c.382+16950_382+16951insGAGAGAGGGAGAGGGGGAGAG	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
JPH3_chr16_87597508_87703156	87620490	A A	AGAAGGAG others(14): Show AGAAGGAGAGAAGAGAGGGAGG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0152 a0001c0003t0001g0152	1	380	0.0026	21	c.382 others(40): Show c.382+16963_382+16964insAAGGAGAGAAGAGAGGGAGGG	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
JPH3_chr16_87597508_87703156	87659374	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03471.hp1 NA18980.hp1 others(1): Show HG00639.hp1 HG03471.hp1 NA18980.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0011 a0001c0001 a0001c0009 a0001c0011	a0001c0001t0004 a0001c0009t0011 a0001c0011t0002 a0001c0001t0004 a0001c0009t0011 a0001c0011t0002	a0001c0001t0004g0189 a0001c0001t0004g0215 a0001c0009t0011g0374 others(1): Show a0001c0001t0004g0189 a0001c0001t0004g0215 a0001c0009t0011g0374 a0001c0011t0002g0328	4	380	0.0105	21	c.116 others(42): Show c.1160+14351_1160+14352insAAAAAAAAAAAAAAAAAAAAA	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
JPH3_chr16_87597508_87703156	87680352	C C	CTGCGCCC others(14): Show CTGCGCCCGGAAGGAAGCGGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(116): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00733.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01261.hp2 HG01346.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01952.hp1 HG01978.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02886.hp1 HG02896.hp2 HG02970.hp2 HG03017.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03490.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 NA18906.hp1 NA18944.hp1 NA18950.hp2 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18978.hp1 NA18979.hp2 NA18982.hp2 NA18986.hp2 NA18993.hp1 NA18993.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19074.hp1 NA19086.hp2 NA19090.hp2 NA20129.hp2 NA20805.hp1 NA21309.hp2	a0001 a0003 a0008 others(2): Show a0001 a0003 a0008 a0010 a0013	a0001c0001 a0001c0002 a0001c0003 others(21): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0014 a0001c0017 a0001c0019 a0001c0027 a0001c0032 a0001c0033 a0001c0041 a0001c0048 a0003c0018 a0008c0043 a0010c0045 a0013c0040	a0001c0001t0001 a0001c0001t0028 a0001c0002t0001 others(40): Show a0001c0001t0001 a0001c0001t0028 a0001c0002t0001 a0001c0002t0006 a0001c0003t0001 a0001c0003t0005 a0001c0003t0006 a0001c0003t0007 a0001c0003t0009 a0001c0003t0016 a0001c0004t0001 a0001c0004t0040 a0001c0005t0001 a0001c0005t0003 a0001c0005t0007 a0001c0005t0008 a0001c0005t0011 a0001c0005t0037 a0001c0006t0001 a0001c0007t0001 a0001c0007t0007 a0001c0007t0008 a0001c0008t0001 a0001c0008t0003 a0001c0008t0005 a0001c0008t0008 a0001c0009t0001 a0001c0010t0020 a0001c0011t0015 a0001c0012t0001 a0001c0012t0007 a0001c0014t0003 a0001c0017t0001 a0001c0019t0001 a0001c0027t0001 a0001c0032t0019 a0001c0033t0003 a0001c0041t0001 a0001c0048t0006 a0003c0018t0001 a0008c0043t0001 a0010c0045t0001 a0013c0040t0006	a0001c0001t0001g0114 a0001c0001t0001g0275 a0001c0001t0028g0024 others(115): Show a0001c0001t0001g0114 a0001c0001t0001g0275 a0001c0001t0028g0024 a0001c0002t0001g0120 a0001c0002t0001g0169 a0001c0002t0001g0196 a0001c0002t0001g0261 a0001c0002t0001g0358 a0001c0002t0006g0154 a0001c0003t0001g0012 a0001c0003t0001g0052 a0001c0003t0001g0095 a0001c0003t0001g0110 a0001c0003t0001g0152 a0001c0003t0001g0173 a0001c0003t0001g0233 a0001c0003t0001g0281 a0001c0003t0001g0332 a0001c0003t0001g0339 a0001c0003t0001g0343 a0001c0003t0001g0344 a0001c0003t0001g0352 a0001c0003t0005g0019 a0001c0003t0005g0029 a0001c0003t0005g0321 a0001c0003t0006g0160 a0001c0003t0007g0303 a0001c0003t0009g0194 a0001c0003t0016g0199 a0001c0004t0001g0016 a0001c0004t0001g0041 a0001c0004t0001g0047 a0001c0004t0001g0053 a0001c0004t0001g0056 a0001c0004t0001g0072 a0001c0004t0001g0113 a0001c0004t0001g0118 a0001c0004t0001g0128 a0001c0004t0001g0129 a0001c0004t0001g0132 a0001c0004t0001g0172 a0001c0004t0001g0179 a0001c0004t0001g0210 a0001c0004t0001g0251 a0001c0004t0001g0276 a0001c0004t0001g0277 a0001c0004t0001g0293 a0001c0004t0001g0308 a0001c0004t0001g0316 a0001c0004t0001g0317 a0001c0004t0001g0335 a0001c0004t0001g0336 a0001c0004t0001g0337 a0001c0004t0040g0272 a0001c0005t0001g0001 a0001c0005t0001g0014 a0001c0005t0001g0059 a0001c0005t0001g0061 a0001c0005t0001g0073 a0001c0005t0001g0086 a0001c0005t0001g0115 a0001c0005t0001g0117 a0001c0005t0001g0139 a0001c0005t0001g0177 a0001c0005t0001g0224 a0001c0005t0001g0258 a0001c0005t0001g0274 a0001c0005t0001g0282 a0001c0005t0001g0314 a0001c0005t0001g0319 a0001c0005t0003g0013 a0001c0005t0007g0032 a0001c0005t0007g0037 a0001c0005t0007g0057 a0001c0005t0007g0368 a0001c0005t0008g0084 a0001c0005t0008g0143 a0001c0005t0011g0377 a0001c0005t0037g0155 a0001c0006t0001g0023 a0001c0007t0001g0116 a0001c0007t0001g0213 a0001c0007t0001g0338 a0001c0007t0007g0244 a0001c0007t0008g0208 a0001c0008t0001g0015 a0001c0008t0001g0207 a0001c0008t0001g0354 a0001c0008t0003g0362 a0001c0008t0005g0089 a0001c0008t0005g0090 a0001c0008t0005g0361 a0001c0008t0008g0259 a0001c0009t0001g0055 a0001c0009t0001g0062 a0001c0009t0001g0065 a0001c0009t0001g0252 a0001c0009t0001g0312 a0001c0010t0020g0027 a0001c0011t0015g0254 a0001c0012t0001g0064 a0001c0012t0001g0356 a0001c0012t0007g0247 a0001c0014t0003g0264 a0001c0017t0001g0221 a0001c0017t0001g0222 a0001c0017t0001g0223 a0001c0019t0001g0026 a0001c0027t0001g0070 a0001c0032t0019g0376 a0001c0033t0003g0093 a0001c0041t0001g0182 a0001c0048t0006g0098 a0003c0018t0001g0236 a0003c0018t0001g0318 a0008c0043t0001g0112 a0010c0045t0001g0333 a0013c0040t0006g0156	119	380	0.3132	21	c.116 others(40): Show c.1161-3787_1161-3767dupCGCCCGGAAGGAAGCGGTGTG	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
JPH3_chr16_87597508_87703156	87700461	G G	GGAGGGAG others(14): Show GGAGGGAGGAGGGCAGGGGGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02615.hp1 HG02896.hp2 HG02559.hp2 HG02615.hp1 HG02896.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0019 a0001c0003t0005g0029 a0001c0003t0005g0321 a0001c0003t0005g0019 a0001c0003t0005g0029 a0001c0003t0005g0321	3	380	0.0079	21	c.38 others(32): Show c.3801_*3802insGAGGGAGGAGGGCAGGGGGTA	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding		2306		chr16	TogoVar
JPH3_chr16_87597508_87703156	87700649	A A	AGAGGGAG others(14): Show AGAGGGAGGAGGGCAGAGGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02280.hp1 HG03139.hp1 others(1): Show HG02109.hp1 HG02280.hp1 HG03139.hp1 HG03471.hp1	a0001 a0001	a0001c0003 a0001c0008 a0001c0009 a0001c0003 a0001c0008 a0001c0009	a0001c0003t0001 a0001c0008t0001 a0001c0009t0011 a0001c0003t0001 a0001c0008t0001 a0001c0009t0011	a0001c0003t0001g0095 a0001c0003t0001g0152 a0001c0008t0001g0092 others(1): Show a0001c0003t0001g0095 a0001c0003t0001g0152 a0001c0008t0001g0092 a0001c0009t0011g0374	4	380	0.0105	21	c.39 others(32): Show c.3989_*3990insGAGGGAGGAGGGCAGAGGGCG	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding		2494		chr16	TogoVar
JPH3_chr16_87597508_87703156	87700839	C C	CGGAGGGA others(14): Show CGGAGGGAGGACGTTGGAGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp2 HG01192.hp2 others(23): Show HG01074.hp1 HG01074.hp2 HG01192.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01928.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02040.hp1 HG02132.hp2 HG02273.hp2 HG02293.hp2 HG02523.hp1 HG03669.hp2 HG03834.hp1 NA18982.hp1 NA19011.hp1 NA19090.hp1 NA20129.hp1 NA20905.hp2	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0003 a0001c0005 others(8): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0001c0008 a0001c0031 a0001c0038 a0001c0047 a0001c0050 a0005c0025 a0006c0049	a0001c0001t0001 a0001c0003t0001 a0001c0003t0006 others(12): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0006 a0001c0003t0025 a0001c0003t0033 a0001c0005t0001 a0001c0007t0001 a0001c0007t0031 a0001c0008t0001 a0001c0031t0001 a0001c0038t0001 a0001c0047t0001 a0001c0050t0001 a0005c0025t0001 a0006c0049t0001	a0001c0001t0001g0241 a0001c0003t0001g0022 a0001c0003t0001g0083 others(23): Show a0001c0001t0001g0241 a0001c0003t0001g0022 a0001c0003t0001g0083 a0001c0003t0001g0131 a0001c0003t0001g0137 a0001c0003t0001g0138 a0001c0003t0001g0141 a0001c0003t0001g0186 a0001c0003t0001g0260 a0001c0003t0001g0341 a0001c0003t0001g0348 a0001c0003t0006g0158 a0001c0003t0025g0178 a0001c0003t0033g0357 a0001c0005t0001g0088 a0001c0007t0001g0140 a0001c0007t0001g0176 a0001c0007t0001g0214 a0001c0007t0031g0345 a0001c0008t0001g0313 a0001c0031t0001g0107 a0001c0038t0001g0069 a0001c0047t0001g0162 a0001c0050t0001g0242 a0005c0025t0001g0145 a0006c0049t0001g0340	26	380	0.0684	21	c.41 others(32): Show c.4179_*4180insGGAGGGAGGACGTTGGAGGGT	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding		2684		chr16	TogoVar
JSRP1_chr19_2247252_2261417	2248153	T T	TGGAGTCC others(14): Show TGGAGTCCACCCTCCAGCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00738.hp2 HG01074.hp2 others(14): Show HG00408.hp1 HG00738.hp2 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01175.hp1 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01496.hp2 HG01943.hp2 HG02015.hp2 HG02683.hp2 HG02698.hp2 HG03453.hp1 HG03654.hp1 HG04199.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0007 a0008	a0001c0001 a0001c0006 a0002c0003 others(4): Show a0001c0001 a0001c0006 a0002c0003 a0003c0002 a0004c0005 a0007c0012 a0008c0015	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0002c0003t0001 a0003c0002t0001 a0004c0005t0001 a0007c0012t0001 a0008c0015t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0002g0005 a0001c0006t0001g0012 a0002c0003t0001g0006 a0003c0002t0001g0002 a0004c0005t0001g0074 a0007c0012t0001g0070 a0007c0012t0001g0072 a0008c0015t0001g0054	17	436	0.0390	21	c.41 others(32): Show c.4155_*4175dupGGGGGCTGGAGGGTGGACTCC	JSRP1	ENSG00000167476.10	transcript	ENST00000300961.10	protein_coding		4098		chr19	TogoVar
JUP_chr17_41749609_41791711	41786160	G G	GTGAGGGT others(14): Show GTGAGGGTGGCCCCAAAGAGAC	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0388 a0001c0001t0001g0388	1	410	0.0024	21	c.-9+ others(34): Show c.-9+407_-9+427dupGTCTCTTTGGGGCCACCCTCA	JUP	ENSG00000173801.17	transcript	ENST00000393931.8	protein_coding	1/13			chr17	TogoVar
KALRN_chr3_124028369_124731325	124580947	A A	AAATAATA others(14): Show AAATAATAATAGTAATAATAAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02071.hp1 HG02129.hp2 others(5): Show HG01496.hp2 HG02071.hp1 HG02129.hp2 NA18945.hp1 NA18947.hp1 NA19002.hp2 NA19010.hp1 NA20752.hp2	a0001 a0001	a0001c0006 a0001c0009 a0001c0015 others(1): Show a0001c0006 a0001c0009 a0001c0015 a0001c0018	a0001c0006t0001 a0001c0009t0001 a0001c0015t0001 others(1): Show a0001c0006t0001 a0001c0009t0001 a0001c0015t0001 a0001c0018t0005	a0001c0006t0001g0013 a0001c0006t0001g0069 a0001c0009t0001g0065 others(5): Show a0001c0006t0001g0013 a0001c0006t0001g0069 a0001c0009t0001g0065 a0001c0009t0001g0070 a0001c0009t0001g0072 a0001c0015t0001g0046 a0001c0015t0001g0097 a0001c0018t0005g0009	8	116	0.0690	21	c.518 others(42): Show c.5182+17868_5182+17869insGTAATAATAATAATAATAATA	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	34/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124642806	G G	GTTTTTTT others(14): Show GTTTTTTTTTTGTTGTTGTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02559.hp2 HG01074.hp1 HG02559.hp2	a0001 a0007 a0001 a0007	a0001c0020 a0007c0052 a0001c0020 a0007c0052	a0001c0020t0008 a0007c0052t0008 a0001c0020t0008 a0007c0052t0008	a0001c0020t0008g0084 a0007c0052t0008g0075 a0001c0020t0008g0084 a0007c0052t0008g0075	2	116	0.0172	21	c.566 others(40): Show c.5664+5513_5664+5514insGTTGTTGTTTTTTTTTTTTTT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	37/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124642808	T T	TTTTTTTT others(14): Show TTTTTTTTTTTTGTTGTTTTTG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0018 a0001c0023t0018	a0001c0023t0018g0038 a0001c0023t0018g0038	1	116	0.0086	21	c.566 others(40): Show c.5664+5516_5664+5517insGTTGTTTTTGTTTTTTTTTTT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	37/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124646391	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02109.hp1 NA18906.hp1 HG01258.hp2 HG02109.hp1 NA18906.hp1	a0001 a0001	a0001c0039 a0001c0049 a0001c0063 a0001c0039 a0001c0049 a0001c0063	a0001c0039t0001 a0001c0049t0001 a0001c0063t0003 a0001c0039t0001 a0001c0049t0001 a0001c0063t0003	a0001c0039t0001g0091 a0001c0049t0001g0003 a0001c0063t0003g0088 a0001c0039t0001g0091 a0001c0049t0001g0003 a0001c0063t0003g0088	3	116	0.0259	21	c.566 others(40): Show c.5665-4400_5665-4399insTTTTTTTTTTTTTTTTTTTTT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	37/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KANK1_chr9_499695_751103	512648	C C	CTTTTGCC others(14): Show CTTTTGCCAAACTATTGGTTGT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0025 a0025	a0025c0038 a0025c0038	a0025c0038t0001 a0025c0038t0001	a0025c0038t0001g0011 a0025c0038t0001g0011	1	254	0.0039	21	c.-84 others(38): Show c.-84+7895_-84+7915dupTTTTGCCAAACTATTGGTTGT	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KANSL1L_chr2_210016421_210176409	210158317	G G	GTCTCCAA others(14): Show GTCTCCAACCAACATATAGCAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0282 a0002c0002t0017g0282	1	284	0.0035	21	c.-29 others(38): Show c.-29-3727_-29-3707dupTTGCTATATGTTGGTTGGAGA	KANSL1L	ENSG00000144445.17	transcript	ENST00000281772.14	protein_coding	1/14			chr2	TogoVar
KANSL1_chr17_46024916_46198429	46084914	A A	ACAGTTAT others(14): Show ACAGTTATCTTGTACACCACTG	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0155 a0001c0001t0002g0155	1	321	0.0031	21	c.143 others(40): Show c.1432-2393_1432-2373dupCAGTGGTGTACAAGATAACTG	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	3/14			chr17	TogoVar
KANSL1_chr17_46024916_46198429	46096311	C C	CTTTCTTT others(14): Show CTTTCTTTCTTTCTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01123.hp1 HG01361.hp1 others(4): Show HG01074.hp2 HG01123.hp1 HG01361.hp1 HG01516.hp2 HG01517.hp2 HG01952.hp2 HG04199.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0302 a0003c0004t0005g0306 a0003c0004t0005g0310 others(4): Show a0003c0004t0005g0302 a0003c0004t0005g0306 a0003c0004t0005g0310 a0003c0004t0005g0312 a0003c0004t0005g0317 a0003c0004t0005g0318 a0003c0004t0005g0319	7	321	0.0218	21	c.129 others(40): Show c.1290-1611_1290-1610insAAAAAAAAAGAAAGAAAGAAA	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	2/14			chr17	TogoVar
KANSL1_chr17_46024916_46198429	46096311	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTCTT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	321	0.0031	21	c.129 others(40): Show c.1290-1611_1290-1610insAAGAAAAAAAAAAAAAAAAAA	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	2/14			chr17	TogoVar
KANSL1_chr17_46024916_46198429	46096311	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG03834.hp1 NA18959.hp1 others(1): Show HG00408.hp1 HG03834.hp1 NA18959.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0149 a0001c0001t0002g0170 others(1): Show a0001c0001t0002g0143 a0001c0001t0002g0149 a0001c0001t0002g0170 a0001c0001t0002g0182	4	321	0.0125	21	c.129 others(40): Show c.1290-1631_1290-1611dupAAAAAAAAAAAAAAAAAAAAA	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	2/14			chr17	TogoVar
KANSL1_chr17_46024916_46198429	46096313	T T	TTTTTTTT others(14): Show TTTTTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA19082.hp2 NA18941.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0155 a0001c0001t0002g0176 a0001c0001t0002g0155 a0001c0001t0002g0176	2	321	0.0062	21	c.129 others(40): Show c.1290-1613_1290-1612insGAAAAAAAAAAAAAAAAAAAA	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	2/14			chr17	TogoVar
KANTR_chrX_53089142_53132438	53097350	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	249	0.0040	21	c.-94 others(40): Show c.-941-2102_-941-2101insTTTTTTTTTTTTTTTTTTTTT	KANTR	ENSG00000232593.8	transcript	ENST00000604062.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
KARS1_chr16_75622724_75652665	75624133	A A	ATATATAT others(14): Show ATATATATATATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	380	0.0026	21	c.37 others(32): Show c.3761_*3762insAAAAAAAAAAATATATATATA	KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding		3590		chr16	TogoVar
KAT2B_chr3_20035446_20159404	20061986	T T	TAATATAT others(14): Show TAATATATATTATATATAAAAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00673.hp1 NA18995.hp2 others(1): Show HG00408.hp2 HG00673.hp1 NA18995.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0086 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0086 a0001c0001t0001g0336	4	374	0.0107	21	c.304 others(40): Show c.304-10346_304-10345insATATATATTATATATAAAACA	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20083253	A A	ATTTTTTA others(14): Show ATTTTTTATTTTTTTATATTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02055.hp2 HG02145.hp2 others(2): Show HG01109.hp1 HG02055.hp2 HG02145.hp2 HG02622.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0128 a0001c0001t0004g0009 a0001c0001t0004g0024 others(2): Show a0001c0001t0001g0128 a0001c0001t0004g0009 a0001c0001t0004g0024 a0001c0001t0004g0028 a0001c0001t0004g0225	5	374	0.0134	21	c.430 others(40): Show c.430+10794_430+10795insTTTTTTATTTTTTTATATTTT	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	2/17			chr3	TogoVar
KAT2B_chr3_20035446_20159404	20149495	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp2 HG01169.hp1 others(2): Show HG01167.hp1 HG01167.hp2 HG01169.hp1 HG02738.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0006	a0001c0001t0001g0008 a0001c0001t0002g0101 a0001c0002t0001g0290 others(2): Show a0001c0001t0001g0008 a0001c0001t0002g0101 a0001c0002t0001g0290 a0001c0002t0006g0220 a0001c0002t0006g0349	5	374	0.0134	21	c.230 others(40): Show c.2305+1013_2305+1033dupAAAAAAAAAAAAAAAAAAAAA	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT6A_chr8_41924479_42056987	41967274	A A	AAATTTAT others(14): Show AAATTTATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0134 a0001c0003t0016g0134	1	374	0.0027	21	c.148 others(40): Show c.1482+7429_1482+7430insAAATAAATAAATAAATAAATT	KAT6A	ENSG00000083168.11	transcript	ENST00000265713.8	protein_coding	8/16			chr8	TogoVar
KAT6A_chr8_41924479_42056987	42054250	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0176 a0001c0003t0007g0176	1	374	0.0027	21	c.-26 others(32): Show c.-2676_-2675insATATATATATATATATATATA	KAT6A	ENSG00000083168.11	transcript	ENST00000265713.8	protein_coding		2264		chr8	TogoVar
KAT6A_chr8_41924479_42056987	42054258	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0060 a0001c0003t0060	a0001c0003t0060g0165 a0001c0003t0060g0165	1	374	0.0027	21	c.-26 others(32): Show c.-2684_-2683insATATATATATATATATATATA	KAT6A	ENSG00000083168.11	transcript	ENST00000265713.8	protein_coding		2272		chr8	TogoVar
KAT6A_chr8_41924479_42056987	42054262	A A	AAAAATAT others(14): Show AAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG03540.hp1 HG01891.hp1 HG03540.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0020 a0001c0005t0088 a0001c0005t0020 a0001c0005t0088	a0001c0005t0020g0121 a0001c0005t0088g0117 a0001c0005t0020g0121 a0001c0005t0088g0117	2	374	0.0054	21	c.-26 others(32): Show c.-2688_-2687insATATATATATATATATATTTT	KAT6A	ENSG00000083168.11	transcript	ENST00000265713.8	protein_coding		2276		chr8	TogoVar
KAT6B_chr10_74821600_75037624	74981343	C C	CTTCCTTC others(14): Show CTTCCTTCCTTTCTTCCTTTCT	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA19043.hp1 HG03579.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0103 a0001c0001t0001g0105	2	236	0.0085	21	c.223 others(38): Show c.2232-438_2232-437insCCTTTCTTCCTTTCTTTCCTT	KAT6B	ENSG00000156650.14	transcript	ENST00000287239.10	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
KATNA1_chr6_149589873_149653714	149609814	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	296	0.0034	21	c.502 others(38): Show c.502-5033_502-5032insGTTTTTTTTTTTTTTTTTTTT	KATNA1	ENSG00000186625.14	transcript	ENST00000367411.7	protein_coding	4/10			chr6	TogoVar
KATNA1_chr6_149589873_149653714	149613179	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18522.hp1 NA18960.hp1 HG03579.hp2 NA18522.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0050 a0001c0001t0001g0124 a0001c0001t0001g0025 a0001c0001t0001g0050 a0001c0001t0001g0124	3	296	0.0101	21	c.502 others(38): Show c.502-8418_502-8398dupTTTTTTTTTTTTTTTTTTTTT	KATNA1	ENSG00000186625.14	transcript	ENST00000367411.7	protein_coding	4/10			chr6	TogoVar
KATNAL1_chr13_30197630_30312551	30310260	C C	CAGAAAGC others(14): Show CAGAAAGCTCAGCTAAGCAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0278 a0001c0001t0049g0278	1	386	0.0026	21	c.-29 others(32): Show c.-2945_-2944insTCCTGCTTAGCTGAGCTTTCT	KATNAL1	ENSG00000102781.14	transcript	ENST00000380615.8	protein_coding		2710		chr13	TogoVar
KATNBL1_chr15_34135674_34215096	34181551	T T	TATATATG others(14): Show TATATATGTCCATATATATATC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03130.hp2 HG03516.hp1 others(1): Show HG02257.hp2 HG03130.hp2 HG03516.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0220 a0001c0001t0005g0221 a0001c0001t0005g0222 others(1): Show a0001c0001t0005g0220 a0001c0001t0005g0221 a0001c0001t0005g0222 a0001c0001t0005g0223	4	344	0.0116	21	c.-14 others(40): Show c.-14-17882_-14-17862dupGATATATATATGGACATATAT	KATNBL1	ENSG00000134152.11	transcript	ENST00000256544.8	protein_coding	1/9			chr15	TogoVar
KAZN_chr1_14593685_15123043	14695510	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0045 a0001c0001t0020g0045	1	146	0.0069	21	c.226 others(40): Show c.226+96302_226+96303insTTTTTTTTTTTTTTTTTTTTT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KBTBD2_chr7_32863172_32896760	32891878	G G	GCCGCCCC others(14): Show GCCGCCCCCGCCGCCCCCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 NA18977.hp2 NA19001.hp1 HG02572.hp1 NA18977.hp2 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0019 a0001c0001t0002g0001 a0001c0002t0001g0174 a0001c0001t0001g0019 a0001c0001t0002g0001 a0001c0002t0001g0174	3	434	0.0069	21	c.-70 others(30): Show c.-702_-682dupGGGCGGGGGCGGCGGGGGCGG	KBTBD2	ENSG00000170852.12	transcript	ENST00000304056.9	protein_coding		119		chr7	TogoVar
KBTBD2_chr7_32863172_32896760	32891887	G G	GCCGCCCC others(14): Show GCCGCCCCCGCCGCCCCCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG01081.hp2 others(30): Show HG00280.hp1 HG00438.hp1 HG01081.hp2 HG01261.hp1 HG01934.hp2 HG02074.hp2 HG02165.hp1 HG02451.hp1 HG02622.hp2 HG03041.hp1 HG03139.hp2 HG03471.hp2 HG03654.hp1 HG04115.hp2 HG04228.hp1 NA18940.hp1 NA18945.hp1 NA18947.hp1 NA18960.hp2 NA18968.hp2 NA18970.hp1 NA18980.hp1 NA18993.hp2 NA18998.hp1 NA19000.hp2 NA19007.hp1 NA19054.hp2 NA19056.hp2 NA19072.hp1 NA19083.hp1 NA19084.hp2 NA19085.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0032 a0001c0001t0001g0090 a0001c0001t0001g0092 others(12): Show a0001c0001t0001g0032 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0003g0003 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0108	33	434	0.0760	21	c.-69 others(30): Show c.-691_-690insGGGCGGGGGCGGCGGGGGCGG	KBTBD2	ENSG00000170852.12	transcript	ENST00000304056.9	protein_coding		128		chr7	TogoVar
KBTBD2_chr7_32863172_32896760	32891897	C C	CCCCCGCC others(14): Show CCCCCGCCCCCGCCGCCCCCGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	434	0.0023	21	c.-70 others(30): Show c.-701_-700insACGGGGGCGGCGGGGGCGGGG	KBTBD2	ENSG00000170852.12	transcript	ENST00000304056.9	protein_coding		138		chr7	TogoVar
KCMF1_chr2_84966161_85064472	85008361	A A	AATATGAT others(14): Show AATATGATATATAATATATATC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	274	0.0037	21	c.17- others(38): Show c.17-19528_17-19527insATATGATATATAATATATATC	KCMF1	ENSG00000176407.18	transcript	ENST00000409785.9	protein_coding	1/6			chr2	TogoVar
KCNAB1_chr3_156115578_156543605	156387014	C C	CTCTCTTT others(14): Show CTCTCTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	124	0.0081	21	c.276 others(40): Show c.276-34601_276-34600insCTCTTTTTTTTTTTTTTTTTT	KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNB1_chr20_49358877_49487668	49425670	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0201 a0001c0001t0002g0201	1	278	0.0036	21	c.568 others(40): Show c.568-50679_568-50678insTATATATATATATATATATAT	KCNB1	ENSG00000158445.10	transcript	ENST00000371741.6	protein_coding	1/1			chr20	TogoVar
KCNB1_chr20_49358877_49487668	49425670	T T	TATATATA others(14): Show TATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02602.hp2 HG02738.hp2 others(2): Show HG00639.hp2 HG02602.hp2 HG02738.hp2 HG03490.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0115 a0001c0001t0118 a0001c0001t0020 a0001c0001t0115 a0001c0001t0118	a0001c0001t0020g0017 a0001c0001t0020g0113 a0001c0001t0020g0116 others(2): Show a0001c0001t0020g0017 a0001c0001t0020g0113 a0001c0001t0020g0116 a0001c0001t0115g0144 a0001c0001t0118g0145	5	278	0.0180	21	c.568 others(40): Show c.568-50679_568-50678insCATATATATATATATATATAT	KCNB1	ENSG00000158445.10	transcript	ENST00000371741.6	protein_coding	1/1			chr20	TogoVar
KCNB2_chr8_72532225_72943349	72778733	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG04204.hp2 HG03491.hp1 HG04204.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0007 a0001c0003t0001g0010 a0001c0003t0001g0007 a0001c0003t0001g0010	2	164	0.0122	21	c.580 others(42): Show c.580-157192_580-157172dupAAAAAAAAAAAAAAAAAAAAA	KCNB2	ENSG00000182674.6	transcript	ENST00000523207.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
KCNB2_chr8_72532225_72943349	72851826	G G	GAAAAAAA others(14): Show GAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0083 a0001c0002t0002g0083	1	164	0.0061	21	c.580 others(40): Show c.580-84107_580-84087dupAAAAAAAAAAAAAAAAAAAAA	KCNB2	ENSG00000182674.6	transcript	ENST00000523207.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
KCNC2_chr12_75035078_75214839	75086681	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	316	0.0032	21	c.688 others(40): Show c.688-35365_688-35364insATATATATATATATATATATA	KCNC2	ENSG00000166006.14	transcript	ENST00000549446.6	protein_coding	2/4			chr12	TogoVar
KCNC2_chr12_75035078_75214839	75138979	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0300 a0001c0001t0006g0300	1	316	0.0032	21	c.687 others(40): Show c.687+68297_687+68317dupTTTTTTTTTTTTTTTTTTTTT	KCNC2	ENSG00000166006.14	transcript	ENST00000549446.6	protein_coding	2/4			chr12	TogoVar
KCND3_chr1_111765662_111994668	111906374	A A	ACCCACTG others(14): Show ACCCACTGTCCATGTAAAGTTC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0217 a0001c0001t0002g0217	1	226	0.0044	21	c.110 others(42): Show c.1106+75226_1106+75246dupGAACTTTACATGGACAGTGGG	KCND3	ENSG00000171385.11	transcript	ENST00000302127.5	protein_coding	2/7			chr1	TogoVar

Search by Variant

Search

Search Results