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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
AKAP5_chr14_64460499_64479503	64463227	A A	ACACACAC others(12): Show ACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp1 NA18962.hp2 NA18968.hp2 others(1): Show NA18950.hp1 NA18962.hp2 NA18968.hp2 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0001 a0001c0001t0004g0001 a0001c0001t0003g0001 a0001c0001t0004g0001	4	155	0.0258	19	c.-26 others(30): Show c.-2650_-2649insCACACACACACACACACAC		AKAP5	ENSG00000179841.8	transcript	ENST00000394718.4	protein_coding					2271		chr14	TogoVar
AKAP6_chr14_32324298_32842684	32615167	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02257.hp2 HG02486.hp1 others(3): Show HG02145.hp2 HG02257.hp2 HG02486.hp1 HG02886.hp1 NA18995.hp1 NA19062.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0010	a0001c0001 a0001c0019 a0003c0002 others(3): Show a0001c0001 a0001c0019 a0003c0002 a0003c0009 a0004c0024 a0010c0012	a0001c0001t0005 a0001c0019t0001 a0003c0002t0041 others(3): Show a0001c0001t0005 a0001c0019t0001 a0003c0002t0041 a0003c0009t0003 a0004c0024t0031 a0010c0012t0040	a0001c0001t0005g0044 a0001c0019t0001g0143 a0003c0002t0041g0019 others(3): Show a0001c0001t0005g0044 a0001c0019t0001g0143 a0003c0002t0041g0019 a0003c0009t0003g0081 a0004c0024t0031g0113 a0010c0012t0040g0104	6	38	0.1579	19	c.273 others(40): Show c.2730+14376_2730+14394dupAAAAAAAAAAAAAAAAAAA		AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32682995	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTGTTTTTG	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02258.hp2 HG02572.hp2 others(8): Show HG01993.hp1 HG02258.hp2 HG02572.hp2 HG02886.hp1 HG03098.hp1 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 NA19240.hp2	a0001 a0004 a0012 others(1): Show a0001 a0004 a0012 a0020	a0001c0001 a0001c0006 a0001c0019 others(5): Show a0001c0001 a0001c0006 a0001c0019 a0004c0007 a0004c0018 a0004c0027 a0012c0049 a0020c0028	a0001c0001t0008 a0001c0006t0007 a0001c0006t0032 others(6): Show a0001c0001t0008 a0001c0006t0007 a0001c0006t0032 a0001c0019t0001 a0004c0007t0018 a0004c0018t0004 a0004c0027t0004 a0012c0049t0043 a0020c0028t0033	a0001c0001t0008g0129 a0001c0006t0007g0099 a0001c0006t0032g0120 others(8): Show a0001c0001t0008g0129 a0001c0006t0007g0099 a0001c0006t0032g0120 a0001c0019t0001g0002 a0001c0019t0001g0143 a0004c0007t0018g0042 a0004c0018t0004g0041 a0004c0018t0004g0065 a0004c0027t0004g0107 a0012c0049t0043g0050 a0020c0028t0033g0148	11	111	0.0991	19	c.287 others(38): Show c.2879+4546_2879+4547insTTGTTTTTGTTTTTTTTTT		AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	8/13					INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32786296	A A	ATGTTTTT others(12): Show ATGTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02572.hp1 HG03516.hp1 HG01071.hp2 HG02572.hp1 HG03516.hp1	a0003 a0005 a0006 a0003 a0005 a0006	a0003c0002 a0005c0011 a0006c0008 a0003c0002 a0005c0011 a0006c0008	a0003c0002t0001 a0005c0011t0013 a0006c0008t0016 a0003c0002t0001 a0005c0011t0013 a0006c0008t0016	a0003c0002t0001g0010 a0005c0011t0013g0051 a0006c0008t0016g0043 a0003c0002t0001g0010 a0005c0011t0013g0051 a0006c0008t0016g0043	3	83	0.0361	19	c.358 others(40): Show c.3588+12404_3588+12405insGTTTTTTTTTTTTTTTTTT		AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	12/13					INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32811241	G G	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01981.hp1 HG02622.hp1 others(5): Show HG01884.hp2 HG01981.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02735.hp2 HG03704.hp2 HG03831.hp2	a0001 a0004 a0018 a0001 a0004 a0018	a0001c0001 a0001c0004 a0001c0006 others(4): Show a0001c0001 a0001c0004 a0001c0006 a0001c0010 a0004c0007 a0004c0013 a0018c0041	a0001c0001t0030 a0001c0001t0038 a0001c0004t0006 others(5): Show a0001c0001t0030 a0001c0001t0038 a0001c0004t0006 a0001c0006t0010 a0001c0010t0006 a0004c0007t0022 a0004c0013t0014 a0018c0041t0008	a0001c0001t0030g0016 a0001c0001t0038g0039 a0001c0004t0006g0119 others(5): Show a0001c0001t0030g0016 a0001c0001t0038g0039 a0001c0004t0006g0119 a0001c0006t0010g0144 a0001c0010t0006g0075 a0004c0007t0022g0022 a0004c0013t0014g0055 a0018c0041t0008g0047	8	95	0.0842	19	c.358 others(40): Show c.3589-10146_3589-10145insAAAAAAAAAAAAAAAAAAA		AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	12/13					INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP7_chr6_131130467_131288532	131207491	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03688.hp1 HG01243.hp1 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0160 a0002c0002t0002g0245 a0002c0002t0001g0160 a0002c0002t0002g0245	2	151	0.0132	19	c.702 others(36): Show c.702+7926_702+7944dupTTTTTTTTTTTTTTTTTTT		AKAP7	ENSG00000118507.19	transcript	ENST00000431975.7	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
AKIRIN1_chr1_38986276_39011059	38994672	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02258.hp1 HG02698.hp2 others(6): Show HG02132.hp2 HG02258.hp1 HG02698.hp2 NA18952.hp2 NA18963.hp2 NA18964.hp2 NA18979.hp1 NA19012.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0039 a0001c0001t0001g0199 a0001c0001t0001g0015 a0001c0001t0001g0039 a0001c0001t0001g0199	9	25	0.3600	19	c.220 others(36): Show c.220+3088_220+3106dupTTTTTTTTTTTTTTTTTTT		AKIRIN1	ENSG00000174574.16	transcript	ENST00000432648.8	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr1	TogoVar
AKNA_chr9_114329156_114392982	114380981	C C	CAGAAAAA others(12): Show CAGAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA19030.hp2 NA20129.hp2 HG06807.hp1 NA19030.hp2 NA20129.hp2	a0005 a0013 a0005 a0013	a0005c0005 a0013c0018 a0005c0005 a0013c0018	a0005c0005t0024 a0005c0005t0030 a0013c0018t0066 a0005c0005t0024 a0005c0005t0030 a0013c0018t0066	a0005c0005t0024g0106 a0005c0005t0030g0104 a0013c0018t0066g0105 a0005c0005t0024g0106 a0005c0005t0030g0104 a0013c0018t0066g0105	3	293	0.0102	19	c.274 others(32): Show c.274+78_274+79insTTTTTTTTTTTTTTTTTCT		AKNA	ENSG00000106948.17	transcript	ENST00000374088.8	protein_coding	2/21						chr9	TogoVar
AKNA_chr9_114329156_114392982	114386483	C C	CCAGCCAG others(12): Show CCAGCCAGCCCTCGTTAGGG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01257.hp2 HG01433.hp1 others(2): Show HG01255.hp2 HG01257.hp2 HG01433.hp1 HG01928.hp2 HG01975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0007 a0002c0002t0049 a0002c0002t0001 a0002c0002t0007 a0002c0002t0049	a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0260 others(2): Show a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0007g0261 a0002c0002t0049g0262	5	386	0.0130	19	c.-11 others(38): Show c.-114+1358_-114+1376dupCCCTAACGAGGGCTGGCTG		AKNA	ENSG00000106948.17	transcript	ENST00000374088.8	protein_coding	1/21						chr9	TogoVar
AKR1B15_chr7_134544110_134584869	134562824	C C	CTTTCTCT others(12): Show CTTTCTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG06807.hp2 HG01891.hp2 HG06807.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0091 a0001c0004t0001g0092 a0001c0004t0001g0091 a0001c0004t0001g0092	2	402	0.0050	19	c.-22 others(36): Show c.-22-1772_-22-1771insTCTCTTTCTTTCTTTCTTT		AKR1B15	ENSG00000227471.9	transcript	ENST00000457545.7	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr7	TogoVar
AKR1C3_chr10_5089414_5112686	5110318	G G	GTCCCTGA others(12): Show GTCCCTGACCCCTGACCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	436	0.0023	19	c.28 others(30): Show c.2815_*2816insTCCCTGACCCCTGACCCCC		AKR1C3	ENSG00000196139.14	transcript	ENST00000380554.5	protein_coding					2633		chr10	TogoVar
AKR1C4_chr10_5191837_5223949	5221401	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01175.hp1 HG02258.hp1 others(2): Show HG01168.hp2 HG01175.hp1 HG02258.hp1 HG02258.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0018 a0001c0001t0001g0081 a0001c0001t0001g0082 others(2): Show a0001c0001t0001g0018 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0158 a0001c0003t0001g0072	5	64	0.0781	19	c.26 others(30): Show c.2641_*2642insAAAAAAAAAAAAAAAAAAA		AKR1C4	ENSG00000198610.11	transcript	ENST00000263126.3	protein_coding					2453		chr10	TogoVar
AKR1D1_chr7_138071459_138123305	138100088	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03453.hp1 HG01891.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0114 a0001c0001t0011g0121 a0001c0001t0011g0114 a0001c0001t0011g0121	2	18	0.1111	19	c.456 others(36): Show c.456+2157_456+2175dupAAAAAAAAAAAAAAAAAAA		AKR1D1	ENSG00000122787.15	transcript	ENST00000242375.8	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
AKR7A2_chr1_19298965_19317144	19312096	G G	GAGACTAC others(12): Show GAGACTACGCGAGACGCGGC	frameshift_variant frameshift_variant	HIGH	HG01106.hp2 HG02615.hp2 HG01106.hp2 HG02615.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0063 a0008c0011t0001g0063	2	458	0.0044	19	c.10_ others(24): Show c.10_28dupGCCGCGTCTCGCGTAGTCT	p.Ser others(4): Show p.Ser10fs	AKR7A2	ENSG00000053371.13	transcript	ENST00000235835.8	protein_coding	1/7	48/1360	28/1080	10/359			chr1	TogoVar
AKT3_chr1_243494724_243855243	243525800	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02738.hp1 NA18952.hp1 HG02080.hp2 HG02738.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0245 a0001c0001t0001g0262 a0001c0001t0009g0003 a0001c0001t0001g0245 a0001c0001t0001g0262 a0001c0001t0009g0003	3	297	0.0101	19	c.125 others(40): Show c.1252-13375_1252-13374insCTTTCTTTCTTTCTTTCTT		AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13						chr1	TogoVar
AKT3_chr1_243494724_243855243	243535155	T T	TATTTTAA others(12): Show TATTTTAAAATATATTTAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(216): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02683.hp1 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0043 a0001c0001t0045 a0001c0001t0046 a0001c0001t0048 a0001c0001t0049 a0001c0002t0003	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 others(216): Show a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0171 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0274 a0001c0001t0001g0281 a0001c0001t0002g0030 a0001c0001t0002g0036 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0069 a0001c0001t0002g0074 a0001c0001t0002g0081 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0170 a0001c0001t0002g0179 a0001c0001t0002g0182 a0001c0001t0002g0184 a0001c0001t0002g0187 a0001c0001t0002g0189 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0240 a0001c0001t0003g0277 a0001c0001t0004g0006 a0001c0001t0004g0013 a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0017 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0006g0161 a0001c0001t0006g0167 a0001c0001t0006g0173 a0001c0001t0006g0174 a0001c0001t0006g0175 a0001c0001t0006g0176 a0001c0001t0006g0177 a0001c0001t0006g0183 a0001c0001t0006g0282 a0001c0001t0007g0059 a0001c0001t0007g0190 a0001c0001t0007g0266 a0001c0001t0007g0267 a0001c0001t0007g0271 a0001c0001t0007g0272 a0001c0001t0007g0273 a0001c0001t0007g0280 a0001c0001t0008g0071 a0001c0001t0008g0072 a0001c0001t0008g0169 a0001c0001t0008g0172 a0001c0001t0008g0192 a0001c0001t0009g0001 a0001c0001t0009g0002 a0001c0001t0009g0003 a0001c0001t0009g0004 a0001c0001t0010g0080 a0001c0001t0010g0162 a0001c0001t0010g0163 a0001c0001t0010g0164 a0001c0001t0011g0096 a0001c0001t0011g0180 a0001c0001t0011g0227 a0001c0001t0011g0228 a0001c0001t0013g0007 a0001c0001t0013g0011 a0001c0001t0014g0025 a0001c0001t0014g0026 a0001c0001t0015g0027 a0001c0001t0015g0028 a0001c0001t0016g0092 a0001c0001t0016g0202 a0001c0001t0017g0166 a0001c0001t0019g0269 a0001c0001t0019g0270 a0001c0001t0021g0283 a0001c0001t0023g0005 a0001c0001t0024g0018 a0001c0001t0025g0010 a0001c0001t0027g0186 a0001c0001t0028g0037 a0001c0001t0031g0195 a0001c0001t0032g0049 a0001c0001t0034g0201 a0001c0001t0036g0029 a0001c0001t0038g0233 a0001c0001t0039g0268 a0001c0001t0040g0185 a0001c0001t0041g0073 a0001c0001t0043g0068 a0001c0001t0045g0188 a0001c0001t0046g0278 a0001c0001t0048g0067 a0001c0001t0049g0284 a0001c0002t0003g0168	219	300	0.7300	19	c.125 others(40): Show c.1251+10336_1251+10354dupTTTAAATATATTTTAAAAT		AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13						chr1	TogoVar
AKT3_chr1_243494724_243855243	243686651	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	195	0.0051	19	c.172 others(36): Show c.172+8939_172+8940insATATATATATATATATATA		AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	3/13						chr1	TogoVar
AKT3_chr1_243494724_243855243	243686652	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02922.hp1 HG03017.hp2 others(7): Show HG00733.hp1 HG02922.hp1 HG03017.hp2 HG04115.hp2 NA18941.hp1 NA18999.hp2 NA19064.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0216 others(7): Show a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0230 a0001c0001t0001g0258 a0001c0001t0001g0281 a0001c0001t0004g0022 a0001c0001t0005g0292 a0001c0001t0007g0280	10	219	0.0457	19	c.172 others(36): Show c.172+8938_172+8939insTATATATATATATATATAT		AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	3/13						chr1	TogoVar
AKTIP_chr16_53486040_53508209	53506598	T T	TGTAAGCT others(12): Show TGTAAGCTCCTGAGGAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	19	c.-35 others(30): Show c.-3523_-3522insTTCCTCCTCAGGAGCTTAC		AKTIP	ENSG00000166971.17	transcript	ENST00000394657.12	protein_coding					3390		chr16	TogoVar
ALAD_chr9_113381312_113406284	113381760	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG01071.hp1 HG01256.hp2 others(22): Show HG00140.hp1 HG01071.hp1 HG01256.hp2 HG01258.hp2 HG01361.hp1 HG01517.hp2 HG01952.hp2 HG02015.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG03195.hp1 HG03688.hp1 HG03710.hp1 HG03834.hp1 HG03942.hp1 NA18612.hp2 NA18943.hp2 NA18952.hp1 NA18953.hp2 NA18968.hp2 NA19004.hp2 NA19064.hp1 NA19089.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010 a0002c0004 a0003c0011	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0010t0001 a0002c0004t0002 a0002c0004t0006 a0003c0011t0001	a0001c0001t0001g0004 a0001c0001t0002g0013 a0001c0001t0002g0034 others(21): Show a0001c0001t0001g0004 a0001c0001t0002g0013 a0001c0001t0002g0034 a0001c0001t0002g0089 a0001c0001t0002g0104 a0001c0001t0002g0187 a0001c0001t0002g0222 a0001c0002t0001g0230 a0001c0002t0002g0054 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0195 a0001c0002t0002g0203 a0001c0002t0002g0218 a0001c0002t0002g0260 a0001c0003t0001g0028 a0001c0003t0001g0059 a0001c0003t0002g0011 a0001c0003t0002g0271 a0001c0010t0001g0290 a0002c0004t0002g0129 a0002c0004t0002g0223 a0002c0004t0006g0074 a0003c0011t0001g0207	25	166	0.1506	19	c.65 others(30): Show c.6539_*6540insAAAAAAAAAAAAAAAAAAA		ALAD	ENSG00000148218.16	transcript	ENST00000409155.8	protein_coding					4551		chr9	TogoVar
ALCAM_chr3_105361909_105581900	105368264	A A	AGAGAGAG others(12): Show AGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02129.hp2 NA18954.hp2 HG01346.hp2 HG02129.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0002t0003g0137 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0002t0003g0137	3	349	0.0086	19	c.73+ others(32): Show c.73+783_73+784insGAGAGAGAGAGAGAGAGAG		ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	1/15						chr3	TogoVar
ALDH16A1_chr19_49448225_49476050	49474928	G G	GGGGGGAG others(12): Show GGGGGGAGATGGACAGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02615.hp2 HG02451.hp2 HG02615.hp2	a0001 a0003 a0001 a0003	a0001c0028 a0003c0004 a0001c0028 a0003c0004	a0001c0028t0001 a0003c0004t0002 a0001c0028t0001 a0003c0004t0002	a0001c0028t0001g0071 a0003c0004t0002g0125 a0001c0028t0001g0071 a0003c0004t0002g0125	2	331	0.0060	19	c.44 others(30): Show c.4461_*4462insGGGGGAGATGGACAGAGGA		ALDH16A1	ENSG00000161618.10	transcript	ENST00000293350.9	protein_coding					3879		chr19	TogoVar
ALDH1L2_chr12_105014790_105089458	105071642	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03834.hp2 HG03041.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0177 a0001c0001t0008g0226 a0001c0001t0001g0177 a0001c0001t0008g0226	2	184	0.0109	19	c.194 others(34): Show c.194-839_194-838insATATATATATATATATATA		ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22						chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105071642	A A	ATATATAT others(12): Show ATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG03654.hp1 NA20805.hp2 HG00558.hp1 HG03654.hp1 NA20805.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0017 a0001c0001 a0007c0017	a0001c0001t0001 a0001c0001t0006 a0007c0017t0001 a0001c0001t0001 a0001c0001t0006 a0007c0017t0001	a0001c0001t0001g0180 a0001c0001t0006g0188 a0007c0017t0001g0149 a0001c0001t0001g0180 a0001c0001t0006g0188 a0007c0017t0001g0149	3	185	0.0162	19	c.194 others(34): Show c.194-839_194-838insAAATATATATATATATATA		ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22						chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105071642	A A	ATATATAT others(12): Show ATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0224 a0001c0001t0005g0224	1	183	0.0055	19	c.194 others(34): Show c.194-839_194-838insAAAAATATATATATATATA		ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22						chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105071642	A A	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0145 a0001c0006t0003g0145	1	183	0.0055	19	c.194 others(34): Show c.194-839_194-838insAAAAAAAAAAATATATATA		ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22						chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105071643	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18974.hp1 NA19057.hp2 others(1): Show NA18970.hp2 NA18974.hp1 NA19057.hp2 NA19078.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0002 a0002c0004t0002 a0001c0002t0002 a0002c0004t0002	a0001c0002t0002g0204 a0001c0002t0002g0207 a0001c0002t0002g0208 others(1): Show a0001c0002t0002g0204 a0001c0002t0002g0207 a0001c0002t0002g0208 a0002c0004t0002g0205	4	371	0.0108	19	c.194 others(34): Show c.194-840_194-839insTATATATATATATATATAT		ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22						chr12	TogoVar
ALDH5A1_chr6_24489969_24542207	24506243	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01517.hp2 HG02559.hp2 HG00735.hp1 HG01517.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0174	3	70	0.0429	19	c.726 others(36): Show c.726+1270_726+1288dupTTTTTTTTTTTTTTTTTTT		ALDH5A1	ENSG00000112294.14	transcript	ENST00000357578.8	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr6	TogoVar
ALDH5A1_chr6_24489969_24542207	24508361	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0047 a0003c0003t0001g0047	1	273	0.0037	19	c.726 others(36): Show c.726+3385_726+3403dupAAAAAAAAAAAAAAAAAAA		ALDH5A1	ENSG00000112294.14	transcript	ENST00000357578.8	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr6	TogoVar
ALDH7A1_chr5_126536841_126600219	126571150	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0332 a0001c0004t0014g0332	1	202	0.0050	19	c.696 others(34): Show c.696-310_696-292dupAAAAAAAAAAAAAAAAAAA		ALDH7A1	ENSG00000164904.18	transcript	ENST00000409134.8	protein_coding	7/17						chr5	TogoVar
ALG10_chr12_34017496_34033302	34029736	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	121	0.0083	19	c.28 others(30): Show c.2821_*2822insTTTTTTTTTTTTTTTTTTT		ALG10	ENSG00000139133.7	transcript	ENST00000266483.7	protein_coding					1435		chr12	TogoVar
ALG12_chr22_49895229_49923438	49912069	T T	TCGGCCCC others(12): Show TCGGCCCCGGGATCAGCCTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(56): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00423.hp2 HG01074.hp2 HG01106.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01515.hp1 HG01891.hp1 HG02055.hp1 HG02071.hp1 HG02080.hp1 HG02109.hp2 HG02145.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02698.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG03098.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03710.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18965.hp2 NA18967.hp1 NA18971.hp2 NA18990.hp2 NA19012.hp2 NA19030.hp1 NA19057.hp2 NA19067.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0002 a0001c0005 a0007c0014 others(1): Show a0001c0002 a0001c0005 a0007c0014 a0008c0017	a0001c0002t0003 a0001c0002t0007 a0001c0002t0008 others(13): Show a0001c0002t0003 a0001c0002t0007 a0001c0002t0008 a0001c0002t0015 a0001c0002t0029 a0001c0002t0031 a0001c0002t0033 a0001c0002t0034 a0001c0002t0035 a0001c0002t0065 a0001c0005t0013 a0001c0005t0019 a0001c0005t0020 a0001c0005t0032 a0007c0014t0013 a0008c0017t0007	a0001c0002t0003g0010 a0001c0002t0003g0021 a0001c0002t0003g0022 others(37): Show a0001c0002t0003g0010 a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0003g0026 a0001c0002t0003g0063 a0001c0002t0003g0064 a0001c0002t0003g0066 a0001c0002t0003g0067 a0001c0002t0003g0068 a0001c0002t0003g0071 a0001c0002t0003g0072 a0001c0002t0003g0080 a0001c0002t0003g0090 a0001c0002t0003g0091 a0001c0002t0003g0092 a0001c0002t0007g0008 a0001c0002t0007g0076 a0001c0002t0007g0078 a0001c0002t0007g0083 a0001c0002t0008g0009 a0001c0002t0008g0065 a0001c0002t0008g0073 a0001c0002t0008g0077 a0001c0002t0008g0084 a0001c0002t0015g0023 a0001c0002t0015g0082 a0001c0002t0029g0070 a0001c0002t0031g0074 a0001c0002t0033g0069 a0001c0002t0034g0075 a0001c0002t0035g0081 a0001c0002t0065g0099 a0001c0005t0013g0085 a0001c0005t0013g0086 a0001c0005t0013g0087 a0001c0005t0019g0024 a0001c0005t0020g0025 a0001c0005t0032g0088 a0007c0014t0013g0089 a0008c0017t0007g0079	59	346	0.1705	19	c.295 others(36): Show c.295+1315_295+1316insGAGGCTGATCCCGGGGCCG		ALG12	ENSG00000182858.14	transcript	ENST00000330817.11	protein_coding	3/9						chr22	TogoVar
ALG12_chr22_49895229_49923438	49917930	C C	CCCCCAGG others(12): Show CCCCCAGGTGGGAGGTCCGG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0112 a0001c0001t0045g0112	1	346	0.0029	19	c.-79 others(34): Show c.-79+314_-79+332dupCCGGACCTCCCACCTGGGG		ALG12	ENSG00000182858.14	transcript	ENST00000330817.11	protein_coding	1/9						chr22	TogoVar
ALG6_chr1_63362627_63443553	63422375	A A	ATTTATAT others(12): Show ATTTATATAGATATAAATAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02622.hp2 HG02647.hp1 others(1): Show HG01192.hp1 HG02622.hp2 HG02647.hp1 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0164 a0001c0003t0009g0165 a0001c0003t0009g0166 others(1): Show a0001c0003t0009g0164 a0001c0003t0009g0165 a0001c0003t0009g0166 a0001c0003t0009g0167	4	385	0.0104	19	c.105 others(38): Show c.1058+2935_1058+2936insTTTATATAGATATAAATAT		ALG6	ENSG00000088035.18	transcript	ENST00000263440.6	protein_coding	12/14						chr1	TogoVar
ALG9_chr11_111777195_111876581	111850706	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02895.hp2 HG02896.hp2 others(2): Show HG02572.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0020 a0001c0001t0022 a0001c0001t0012 a0001c0001t0020 a0001c0001t0022	a0001c0001t0012g0196 a0001c0001t0012g0197 a0001c0001t0012g0199 others(2): Show a0001c0001t0012g0196 a0001c0001t0012g0197 a0001c0001t0012g0199 a0001c0001t0020g0108 a0001c0001t0022g0140	5	14	0.3571	19	c.895 others(36): Show c.895+2673_895+2674insTTTTTTTTTTTTTTTTTTT		ALG9	ENSG00000086848.15	transcript	ENST00000616540.5	protein_coding	8/14						chr11	TogoVar
ALKBH5_chr17_18178828_18214954	18201786	G G	GATAGATA others(12): Show GATAGATAGATAGATAGGTA	intron_variant intron_variant	MODIFIER	HG02602.hp2 NA18973.hp1 HG02602.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0155 a0001c0001t0002g0157	2	370	0.0054	19	c.852 others(36): Show c.852-5029_852-5028insATAGATAGATAGATAGGTA		ALKBH5	ENSG00000091542.9	transcript	ENST00000399138.5	protein_coding	2/3						chr17	TogoVar
ALLC_chr2_3653200_3707671	3690293	C C	CCTCCCCC others(12): Show CCTCCCCCTCCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	271	0.0037	19	c.512 others(36): Show c.512-5424_512-5423insCTCCCCCTCCCCCTCCCCT		ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11						chr2	TogoVar
ALLC_chr2_3653200_3707671	3690348	T T	TCCCCTCC others(12): Show TCCCCTCCCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	221	0.0045	19	c.512 others(36): Show c.512-5360_512-5359insCCTCCCCTCCCCCCTCCCC		ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
ALOX12_chr17_6991049_7015754	7006059	C C	CGGGGGGG others(12): Show CGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01981.hp1 NA19005.hp2 HG01258.hp1 HG01981.hp1 NA19005.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0080 a0002c0002t0001g0086 a0002c0002t0001g0095 a0002c0002t0001g0080 a0002c0002t0001g0086 a0002c0002t0001g0095	3	33	0.0909	19	c.141 others(34): Show c.1418+32_1418+33insGGGGGGGGGGGGGGGGGGG		ALOX12	ENSG00000108839.12	transcript	ENST00000251535.11	protein_coding	10/13						chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8049283	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01358.hp1 HG03579.hp2 others(1): Show HG01168.hp1 HG01358.hp1 HG03579.hp2 NA19000.hp2	a0002 a0010 a0002 a0010	a0002c0002 a0010c0025 a0002c0002 a0010c0025	a0002c0002t0002 a0010c0025t0004 a0002c0002t0002 a0010c0025t0004	a0002c0002t0002g0002 a0002c0002t0002g0007 a0002c0002t0002g0015 others(1): Show a0002c0002t0002g0002 a0002c0002t0002g0007 a0002c0002t0002g0015 a0010c0025t0004g0045	4	72	0.0556	19	c.71 others(28): Show c.718_*719insAAAAAAAAAAAAAAAAAAA		ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding					150		chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8050306	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG01069.hp2 others(15): Show HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01515.hp2 HG02257.hp1 HG02896.hp2 HG02897.hp1 NA18906.hp2 NA18981.hp2 NA18988.hp2 NA18997.hp2 NA19056.hp1 NA19062.hp2 NA19084.hp1 NA19091.hp2	a0002 a0007 a0018 a0002 a0007 a0018	a0002c0002 a0002c0003 a0007c0012 others(1): Show a0002c0002 a0002c0003 a0007c0012 a0018c0026	a0002c0002t0002 a0002c0002t0006 a0002c0003t0001 others(2): Show a0002c0002t0002 a0002c0002t0006 a0002c0003t0001 a0007c0012t0002 a0018c0026t0013	a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0035 others(7): Show a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0035 a0002c0002t0006g0002 a0002c0002t0006g0005 a0002c0002t0006g0015 a0002c0003t0001g0003 a0002c0003t0001g0087 a0007c0012t0002g0090 a0018c0026t0013g0096	18	43	0.4186	19	c.17 others(30): Show c.1741_*1742insAAAAAAAAAAAAAAAAAAA		ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding					1173		chr17	TogoVar
ALOX15_chr17_4625919_4646678	4644892	G G	GGAGAGGA others(12): Show GGAGAGGAAAGACCCAGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0012 a0012	a0012c0024 a0012c0024	a0012c0024t0002 a0012c0024t0002	a0012c0024t0002g0150 a0012c0024t0002g0150	1	470	0.0021	19	c.-32 others(30): Show c.-3242_-3241insGGCCTGGGTCTTTCCTCTC		ALOX15	ENSG00000161905.13	transcript	ENST00000293761.8	protein_coding					3215		chr17	TogoVar
ALPK2_chr18_58476247_58634091	58521625	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01109.hp2 NA18949.hp1 others(4): Show HG00438.hp1 HG01109.hp2 NA18949.hp1 NA18960.hp1 NA19011.hp2 NA19088.hp2 NA19090.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0079 a0003c0004 a0001c0002 a0001c0079 a0003c0004	a0001c0002t0001 a0001c0079t0001 a0003c0004t0001 others(1): Show a0001c0002t0001 a0001c0079t0001 a0003c0004t0001 a0003c0004t0002	a0001c0002t0001g0178 a0001c0002t0001g0221 a0001c0002t0001g0238 others(4): Show a0001c0002t0001g0178 a0001c0002t0001g0221 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0079t0001g0220 a0003c0004t0001g0260 a0003c0004t0002g0067	7	271	0.0258	19	c.566 others(38): Show c.5665+2180_5665+2181insAAAAAAAAAAAAAAAAAAA		ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	8/12						chr18	TogoVar
ALPK2_chr18_58476247_58634091	58521627	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0012 a0003c0018t0012	a0003c0018t0012g0098 a0003c0018t0012g0098	1	23	0.0435	19	c.566 others(38): Show c.5665+2160_5665+2178dupAAAAAAAAAAAAAAAAAAA		ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	8/12						chr18	TogoVar
ALPL_chr1_21504423_21583410	21552114	T T	TCCCCTCC others(12): Show TCCCCTCCCCTCCCCTCCCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp2 HG00738.hp1 others(16): Show HG00099.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01074.hp1 HG01123.hp1 HG01243.hp2 HG01257.hp2 HG02300.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG03209.hp1 HG03471.hp1 HG03490.hp2 HG06807.hp2 NA19030.hp2 NA20752.hp1 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0002c0002t0003 a0003c0004t0005	a0001c0001t0002g0073 a0001c0001t0002g0197 a0001c0001t0002g0229 others(16): Show a0001c0001t0002g0073 a0001c0001t0002g0197 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0348 a0001c0001t0003g0122 a0001c0001t0003g0133 a0001c0001t0003g0146 a0001c0001t0003g0219 a0001c0001t0003g0272 a0001c0001t0009g0170 a0002c0002t0003g0112 a0002c0002t0003g0172 a0002c0002t0003g0261 a0002c0002t0003g0262 a0002c0002t0003g0263 a0003c0004t0005g0019	19	22	0.8636	19	c.-10 others(38): Show c.-104-1864_-104-1863insCCCCTCCCCTCCCCTCCCC		ALPL	ENSG00000162551.14	transcript	ENST00000374840.8	protein_coding	1/11						chr1	TogoVar
ALPP_chr2_232373751_232387889	232386522	C C	CCCCGGGG others(12): Show CCCCGGGGAAATTACTTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	408	0.0025	19	c.47 others(30): Show c.4727_*4728insCCCGGGGAAATTACTTATG		ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding					3634		chr2	TogoVar
ALX3_chr1_110054870_110075672	110062614	T T	TGTGTCAC others(12): Show TGTGTCACAACAGAAGAAAG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02280.hp2 HG02630.hp2 others(1): Show HG02257.hp1 HG02280.hp2 HG02630.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0030 a0001c0001t0005g0114 a0001c0001t0005g0030 a0001c0001t0005g0114	4	420	0.0095	19	c.595 others(36): Show c.595-1052_595-1051insCTTTCTTCTGTTGTGACAC		ALX3	ENSG00000156150.9	transcript	ENST00000647563.2	protein_coding	2/3						chr1	TogoVar
ALX3_chr1_110054870_110075672	110062645	G G	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0047 a0001c0001t0003g0047	1	169	0.0059	19	c.595 others(36): Show c.595-1083_595-1082insACACACACACACACACACA		ALX3	ENSG00000156150.9	transcript	ENST00000647563.2	protein_coding	2/3						chr1	TogoVar
ALYREF_chr17_81882835_81896586	81892542	T T	TTTTTTTT others(12): Show TTTTTTTTTTTTTTTTTTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0010 a0001c0002t0001g0010	1	309	0.0032	19	c.-96 others(28): Show c.-963_-962insTCAAAAAAAAAAAAAAAAA		ALYREF	ENSG00000183684.8	transcript	ENST00000505490.3	protein_coding					957		chr17	TogoVar
AMBN_chr4_70587256_70612288	70591806	A A	AGTGTTTT others(12): Show AGTGTTTTCTTTTAAACTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	478	0.0021	19	c.-55 others(28): Show c.-553_-552insGTGTTTTCTTTTAAACTCT		AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding					449		chr4	TogoVar

Search by Variant

Search

Search Results