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
ATP10A_chr15_25673712_25868327	25758477	A A	ACTCATTC others(45): Show ACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCC ACC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02630.hp1 HG02647.hp1 others(1): Show HG02615.hp1 HG02630.hp1 HG02647.hp1 HG03579.hp2	a0001 a0007 a0037 a0001 a0007 a0037	a0001c0001 a0001c0019 a0007c0073 others(1): Show a0001c0001 a0001c0019 a0007c0073 a0037c0049	a0001c0001t0001 a0001c0019t0001 a0007c0073t0001 others(1): Show a0001c0001t0001 a0001c0019t0001 a0007c0073t0001 a0037c0049t0001	a0001c0001t0001g0039 a0001c0019t0001g0031 a0007c0073t0001g0218 others(1): Show a0001c0001t0001g0039 a0001c0019t0001g0031 a0007c0073t0001g0218 a0037c0049t0001g0202	4	300	0.0133	52	c.655 others(71): Show c.655-22337_655-22336insGGTGGAGCAGGTGGTCGGAATGAGTT AGGGTGGAGCAGGTGATCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758477	A A	ACTCATTC others(45): Show ACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCC ACC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0016 a0016	a0016c0024 a0016c0024	a0016c0024t0001 a0016c0024t0001	a0016c0024t0001g0020 a0016c0024t0001g0020	1	300	0.0033	52	c.655 others(71): Show c.655-22337_655-22336insGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGATCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758488	C C	CCACCTGC others(45): Show CCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCC GAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG03453.hp2 NA19000.hp1 others(1): Show HG00558.hp1 HG03453.hp2 NA19000.hp1 NA19091.hp2	a0003 a0005 a0014 others(1): Show a0003 a0005 a0014 a0020	a0003c0003 a0005c0005 a0014c0020 others(1): Show a0003c0003 a0005c0005 a0014c0020 a0020c0018	a0003c0003t0001 a0005c0005t0001 a0014c0020t0001 others(1): Show a0003c0003t0001 a0005c0005t0001 a0014c0020t0001 a0020c0018t0001	a0003c0003t0001g0010 a0005c0005t0001g0052 a0014c0020t0001g0130 others(1): Show a0003c0003t0001g0010 a0005c0005t0001g0052 a0014c0020t0001g0130 a0020c0018t0001g0028	4	300	0.0133	52	c.655 others(71): Show c.655-22348_655-22347insATCGGAATGAGTTAGGGTGGAGCAGG TGGTCGGAATGAGGGTGGAGCAGGTG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758516	T T	TCACCTGC others(45): Show TCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTCATTCC GAC	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0004 a0004	a0004c0027 a0004c0027	a0004c0027t0001 a0004c0027t0001	a0004c0027t0001g0012 a0004c0027t0001g0012	1	300	0.0033	52	c.655 others(71): Show c.655-22376_655-22375insGTCGGAATGAGGGTGGAGCAGGTGAT CGGAATGAGTTAGGGTGGAGCAGGTG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758533	A A	ACTCATTC others(45): Show ACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCC ACC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0004 a0004	a0004c0059 a0004c0059	a0004c0059t0001 a0004c0059t0001	a0004c0059t0001g0051 a0004c0059t0001g0051	1	300	0.0033	52	c.655 others(71): Show c.655-22393_655-22392insGGTGGAGCAGGTGGTCGGAATGAGTT AGGGTGGAGCAGGTGATCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758561	A A	ACTCATTC others(45): Show ACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCC ACC	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA18943.hp1 HG00738.hp2 NA18943.hp1	a0002 a0015 a0002 a0015	a0002c0002 a0015c0029 a0002c0002 a0015c0029	a0002c0002t0001 a0015c0029t0001 a0002c0002t0001 a0015c0029t0001	a0002c0002t0001g0157 a0015c0029t0001g0152 a0002c0002t0001g0157 a0015c0029t0001g0152	2	300	0.0067	52	c.655 others(71): Show c.655-22421_655-22420insGGTGGAGCAGGTGGTCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758617	A A	ACTCATTC others(45): Show ACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCC ACC	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA19058.hp1 HG02280.hp1 NA19058.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0061 a0002c0002t0001g0154 a0001c0001t0001g0061 a0002c0002t0001g0154	2	300	0.0067	52	c.654 others(71): Show c.654+22401_654+22402insGGTGGAGCAGGTGGTCGGAATGAGTT AGGGTGGAGCAGGTGATCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758628	C C	CCACCTGC others(45): Show CCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTCATTCC GAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0052 a0052	a0052c0051 a0052c0051	a0052c0051t0001 a0052c0051t0001	a0052c0051t0001g0054 a0052c0051t0001g0054	1	300	0.0033	52	c.654 others(71): Show c.654+22390_654+22391insATCGGAATGAGGGTGGAGCAGGTGAT CGGAATGAGTTAGGGTGGAGCAGGTG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758645	A A	ACTCATTC others(45): Show ACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCC ACC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0020 a0020	a0020c0018 a0020c0018	a0020c0018t0001 a0020c0018t0001	a0020c0018t0001g0064 a0020c0018t0001g0064	1	300	0.0033	52	c.654 others(71): Show c.654+22373_654+22374insGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758725	C C	CCTCATTC others(45): Show CCTCATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCC TAA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18988.hp1 NA19091.hp1 NA18970.hp2 NA18988.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0001g0151 a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0001g0151	3	300	0.0100	52	c.654 others(71): Show c.654+22293_654+22294insTTAGGGTGGAGCAGGTGGTCGGAATG AGGGTGGAGCAGGTGATCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758725	C C	CCTCATTC others(45): Show CCTCATTCCGATCACCTGCTCCACCCTCATTCCGATCACCTGCTCCACCC TAA	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	300	0.0033	52	c.654 others(71): Show c.654+22293_654+22294insTTAGGGTGGAGCAGGTGATCGGAATG AGGGTGGAGCAGGTGATCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758753	A A	ACTCATTC others(45): Show ACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCC ACC	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18951.hp1 NA18961.hp1 others(1): Show HG02132.hp2 NA18951.hp1 NA18961.hp1 NA18961.hp2	a0002 a0004 a0005 a0002 a0004 a0005	a0002c0002 a0004c0004 a0005c0005 others(1): Show a0002c0002 a0004c0004 a0005c0005 a0005c0055	a0002c0002t0001 a0004c0004t0002 a0005c0005t0001 others(1): Show a0002c0002t0001 a0004c0004t0002 a0005c0005t0001 a0005c0055t0001	a0002c0002t0001g0127 a0004c0004t0002g0291 a0005c0005t0001g0266 others(1): Show a0002c0002t0001g0127 a0004c0004t0002g0291 a0005c0005t0001g0266 a0005c0055t0001g0189	4	300	0.0133	52	c.654 others(71): Show c.654+22265_654+22266insGGTGGAGCAGGTGGTCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758753	A A	ACTCATTC others(45): Show ACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCC ACC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG06807.hp1 HG01891.hp2 HG06807.hp1	a0007 a0007	a0007c0015 a0007c0086 a0007c0015 a0007c0086	a0007c0015t0001 a0007c0086t0001 a0007c0015t0001 a0007c0086t0001	a0007c0015t0001g0247 a0007c0086t0001g0279 a0007c0015t0001g0247 a0007c0086t0001g0279	2	300	0.0067	52	c.654 others(71): Show c.654+22265_654+22266insGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758781	A A	ACTCATTC others(45): Show ACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCC ACC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0020 a0020	a0020c0018 a0020c0018	a0020c0018t0001 a0020c0018t0001	a0020c0018t0001g0064 a0020c0018t0001g0064	1	300	0.0033	52	c.654 others(71): Show c.654+22237_654+22238insGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10B_chr5_160558120_160857211	160652889	T T	TTATATAA others(45): Show TTATATAATATATTATATATACATGTATATATAATATATTATATATACAT GTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp2 others(18): Show HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00558.hp2 HG00673.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01255.hp2 HG01256.hp2 HG01934.hp2 HG02622.hp1 HG02630.hp1 HG02698.hp1 HG03017.hp2 HG03942.hp1 NA18948.hp2 NA18961.hp2 NA19084.hp2 NA21309.hp2	a0001 a0002 a0010 others(3): Show a0001 a0002 a0010 a0011 a0013 a0021	a0001c0001 a0001c0002 a0001c0006 others(6): Show a0001c0001 a0001c0002 a0001c0006 a0002c0004 a0002c0010 a0010c0014 a0011c0031 a0013c0027 a0021c0035	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0002t0005 a0001c0002t0007 a0001c0006t0003 a0002c0004t0008 a0002c0010t0004 a0010c0014t0050 a0011c0031t0001 a0013c0027t0003 a0021c0035t0004	a0001c0001t0001g0065 a0001c0001t0002g0047 a0001c0001t0002g0130 others(18): Show a0001c0001t0001g0065 a0001c0001t0002g0047 a0001c0001t0002g0130 a0001c0001t0002g0151 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0004g0165 a0001c0001t0009g0007 a0001c0001t0009g0115 a0001c0002t0005g0127 a0001c0002t0007g0213 a0001c0006t0003g0104 a0001c0006t0003g0105 a0002c0004t0008g0096 a0002c0010t0004g0112 a0002c0010t0004g0142 a0010c0014t0050g0106 a0011c0031t0001g0155 a0013c0027t0003g0043 a0021c0035t0004g0062	21	236	0.0890	52	c.676 others(69): Show c.676-3685_676-3634dupTACATGTATATATAATATATTATATATA CATGTATATATAATATATTATATA	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP11A_chr13_112685038_112892168	112803887	A A	ATTCCCCT others(45): Show ATTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCC TCG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0008 a0008	a0008c0023 a0008c0023	a0008c0023t0002 a0008c0023t0002	a0008c0023t0002g0064 a0008c0023t0002g0064	1	254	0.0039	52	c.163 others(69): Show c.163-1019_163-1018insGTTCCCCTCCTTCCCTCCTTCACCTCCC TCCCCCCATCCCCTCTCTGCCCTC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112804305	T T	TCCTCCTT others(45): Show TCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCGT TCC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02083.hp1 HG00408.hp1 HG02083.hp1	a0002 a0003 a0002 a0003	a0002c0010 a0003c0007 a0002c0010 a0003c0007	a0002c0010t0010 a0003c0007t0011 a0002c0010t0010 a0003c0007t0011	a0002c0010t0010g0222 a0003c0007t0011g0115 a0002c0010t0010g0222 a0003c0007t0011g0115	2	254	0.0079	52	c.163 others(67): Show c.163-604_163-553dupGTTCCCCTCCTTCCCTCCTTCACCTCCCTC CCCCCATCCCCTCTCTGCCCTC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112804353	G G	GTTCCCCT others(45): Show GTTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCC TCC	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0011 a0003c0007t0011	a0003c0007t0011g0105 a0003c0007t0011g0105	1	254	0.0039	52	c.163 others(67): Show c.163-592_163-541dupCCCTCCTTCACCTCCCTCCCCCCATCCCCT CTCTGCCCTCCTTCCCCTCCTT	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112863701	C C	CAGCTTCC others(45): Show CAGCTTCCCAGCGGGGTCCATCACCACCTGCGCAGTAATTCAGTGCAAAC CAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0008 a0008	a0008c0023 a0008c0023	a0008c0023t0002 a0008c0023t0002	a0008c0023t0002g0064 a0008c0023t0002g0064	1	254	0.0039	52	c.299 others(71): Show c.2991+1126_2991+1127insAGCTTCCCAGCGGGGTCCATCACCAC CTGCGCAGTAATTCAGTGCAAACCAT	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	25/29			chr13	TogoVar
ATP11A_chr13_112685038_112892168	112864890	C C	CAGCTTCC others(45): Show CAGCTTCCCAGCGGGGTCCATCACCACATGCGCAGTAATTCAGTGCGGCA CAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0050 a0001c0004t0050	a0001c0004t0050g0033 a0001c0004t0050g0033	1	254	0.0039	52	c.299 others(71): Show c.2991+2315_2991+2316insAGCTTCCCAGCGGGGTCCATCACCAC ATGCGCAGTAATTCAGTGCGGCACAT	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	25/29			chr13	TogoVar
ATP1B4_chrX_120357089_120388237	120374621	T T	TTATATAT others(45): Show TTATATATAATATAATATTATATTATATATATATAATATTATATTATATT ATA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01433.hp1 HG01361.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0047 a0001c0001t0003g0047	2	353	0.0057	52	c.563 others(67): Show c.563-713_563-712insTATATTATATTATATATATATAATATAATA TTATATTATATATATATAATAT	ATP1B4	ENSG00000101892.12	transcript	ENST00000218008.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP2A3_chr17_3918873_3969437	3923758	G G	GTGGGCAG others(45): Show GTGGGCAGGTGGTATGGGCAGGTGGTATGGGCAGGTGGTATGGGCAGGTG GTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0087 a0001c0004t0004g0087	1	332	0.0030	52	c.16 others(63): Show c.1663_*1664insTACCACCTGCCCATACCACCTGCCCATACCACCT GCCCATACCACCTGCCCA	ATP2A3	ENSG00000074370.18	transcript	ENST00000397041.8	protein_coding		114		chr17	TogoVar
ATP2B3_chrX_153512642_153587929	153584581	A A	AAGGAAGG others(45): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGA GGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0241 a0001c0002t0013g0241	1	267	0.0038	52	c.42 others(63): Show c.4283_*4284insAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAG GGAGGGAGGGAGGGAGGG	ATP2B3	ENSG00000067842.19	transcript	ENST00000263519.5	protein_coding		1653		chrX	TogoVar
ATP2B3_chrX_153512642_153587929	153584581	A A	AAGGAAGG others(45): Show AAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0163 a0001c0001t0005g0163	1	267	0.0038	52	c.42 others(63): Show c.4283_*4284insAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGG	ATP2B3	ENSG00000067842.19	transcript	ENST00000263519.5	protein_coding		1653		chrX	TogoVar
ATP2B3_chrX_153512642_153587929	153584581	A A	AAGGAAGG others(45): Show AAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG01258.hp1 HG02071.hp1 others(4): Show HG00597.hp1 HG01258.hp1 HG02071.hp1 HG03195.hp2 HG03579.hp1 HG04184.hp1 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0015 a0001c0001 a0001c0002 a0001c0015	a0001c0001t0001 a0001c0002t0001 a0001c0015t0001 a0001c0001t0001 a0001c0002t0001 a0001c0015t0001	a0001c0001t0001g0050 a0001c0001t0001g0127 a0001c0001t0001g0210 others(4): Show a0001c0001t0001g0050 a0001c0001t0001g0127 a0001c0001t0001g0210 a0001c0002t0001g0001 a0001c0002t0001g0132 a0001c0002t0001g0190 a0001c0015t0001g0152	7	267	0.0262	52	c.42 others(63): Show c.4283_*4284insAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGG	ATP2B3	ENSG00000067842.19	transcript	ENST00000263519.5	protein_coding		1653		chrX	TogoVar
ATP2B3_chrX_153512642_153587929	153584581	A A	AAGGAAGG others(45): Show AAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01074.hp1 HG01109.hp1 others(6): Show HG00735.hp1 HG01074.hp1 HG01109.hp1 HG01243.hp1 HG01978.hp2 HG02109.hp1 HG03041.hp2 HG03491.hp1 HG03492.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0005c0009	a0001c0001t0001 a0001c0001t0013 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0013 a0001c0002t0001 a0001c0002t0003 a0001c0004t0015 a0005c0009t0005	a0001c0001t0001g0002 a0001c0001t0013g0166 a0001c0002t0001g0144 others(6): Show a0001c0001t0001g0002 a0001c0001t0013g0166 a0001c0002t0001g0144 a0001c0002t0001g0146 a0001c0002t0001g0171 a0001c0002t0003g0096 a0001c0002t0003g0149 a0001c0004t0015g0225 a0005c0009t0005g0081	9	267	0.0337	52	c.42 others(63): Show c.4283_*4284insAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGG	ATP2B3	ENSG00000067842.19	transcript	ENST00000263519.5	protein_coding		1653		chrX	TogoVar
ATP2B3_chrX_153512642_153587929	153584581	A A	AAGGAAGG others(45): Show AAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 HG02145.hp1 NA18998.hp1 others(1): Show HG02004.hp2 HG02145.hp1 NA18998.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0015 a0001c0001t0035 a0001c0002t0001 others(1): Show a0001c0001t0015 a0001c0001t0035 a0001c0002t0001 a0001c0002t0012	a0001c0001t0015g0227 a0001c0001t0035g0070 a0001c0002t0001g0134 others(1): Show a0001c0001t0015g0227 a0001c0001t0035g0070 a0001c0002t0001g0134 a0001c0002t0012g0088	4	267	0.0150	52	c.42 others(63): Show c.4283_*4284insAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGG	ATP2B3	ENSG00000067842.19	transcript	ENST00000263519.5	protein_coding		1653		chrX	TogoVar
ATP2B3_chrX_153512642_153587929	153584581	A A	AAGGAAGG others(45): Show AAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18939.hp1 NA18945.hp1 others(6): Show NA18612.hp1 NA18939.hp1 NA18945.hp1 NA18951.hp1 NA18971.hp1 NA18983.hp1 NA18984.hp1 NA19011.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0014 a0001c0001t0004g0040 a0001c0001t0004g0178 others(5): Show a0001c0001t0004g0014 a0001c0001t0004g0040 a0001c0001t0004g0178 a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0004g0223	9	267	0.0337	52	c.42 others(63): Show c.4283_*4284insAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGG	ATP2B3	ENSG00000067842.19	transcript	ENST00000263519.5	protein_coding		1653		chrX	TogoVar
ATP2B3_chrX_153512642_153587929	153584581	A A	AAGGAAGG others(45): Show AAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	267	0.0038	52	c.42 others(63): Show c.4283_*4284insAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGG	ATP2B3	ENSG00000067842.19	transcript	ENST00000263519.5	protein_coding		1653		chrX	TogoVar
ATP2B3_chrX_153512642_153587929	153584581	A A	AAGGAAGG others(45): Show AAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG04115.hp1 HG02015.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0018 a0001c0002t0001 a0001c0001t0018 a0001c0002t0001	a0001c0001t0018g0052 a0001c0002t0001g0116 a0001c0001t0018g0052 a0001c0002t0001g0116	2	267	0.0075	52	c.42 others(63): Show c.4283_*4284insAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGG	ATP2B3	ENSG00000067842.19	transcript	ENST00000263519.5	protein_coding		1653		chrX	TogoVar
ATP6V0A4_chr7_138701294_138803196	138718202	G G	GGGGCGGG others(45): Show GGGGCGGGGGTGCAGTCACGGATGTCTGCAGAGGGAGACGTCCAGGAAGG AAT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0241 a0001c0001t0002g0241	1	376	0.0027	52	c.214 others(71): Show c.2140-2322_2140-2321insATTCCTTCCTGGACGTCTCCCTCTGC AGACATCCGTGACTGCACCCCCGCCC	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	19/21			chr7	TogoVar
ATP6V1A_chr3_113742035_113817056	113782561	T T	TATATATA others(45): Show TATATATATATATGTATATATATACACGTATATATATATGTATATATATA CAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0283 a0001c0001t0019g0283	1	312	0.0032	52	c.211 others(69): Show c.211+1383_211+1384insATATATATATATGTATATATATACACGT ATATATATATGTATATATATACAC	ATP6V1A	ENSG00000114573.12	transcript	ENST00000273398.8	protein_coding	3/14			chr3	TogoVar
ATP8A2_chr13_25366974_26030851	25465748	C C	CCTCCCTC others(45): Show CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTCTCTCTCTCTCTCTC TTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0073 a0001c0003t0073	a0001c0003t0073g0001 a0001c0003t0073g0001	1	122	0.0082	52	c.77- others(67): Show c.77-3226_77-3225insCCTCCCTCCCTCCCTCCCTCCCTCCCTCTC TCTCTCTCTCTCTCTCTTTCTC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25609534	G G	GGGATTCA others(45): Show GGGATTCAAATATATATATATATATTTGGATTCAAATATATATATATATA TTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01175.hp2 others(1): Show HG01070.hp1 HG01071.hp2 HG01175.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0018 a0001c0001 a0001c0018	a0001c0001t0011 a0001c0001t0013 a0001c0018t0007 a0001c0001t0011 a0001c0001t0013 a0001c0018t0007	a0001c0001t0011g0062 a0001c0001t0011g0063 a0001c0001t0013g0005 others(1): Show a0001c0001t0011g0062 a0001c0001t0011g0063 a0001c0001t0013g0005 a0001c0018t0007g0029	4	122	0.0328	52	c.221 others(73): Show c.2211+19883_2211+19884insATTTGGATTCAAATATATATATAT ATATTTGGATTCAAATATATATATATAT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	24/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25609563	A A	ATTCAAAT others(45): Show ATTCAAATATATATATATATATTTGGGTTCAAATATATATATATATATTT GGG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01109.hp2 HG01358.hp1 others(3): Show HG00741.hp1 HG01109.hp2 HG01358.hp1 NA19240.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0011 a0001c0003t0006 a0001c0003t0018 others(3): Show a0001c0001t0011 a0001c0003t0006 a0001c0003t0018 a0001c0003t0052 a0001c0003t0061 a0001c0005t0021	a0001c0001t0011g0061 a0001c0003t0006g0078 a0001c0003t0018g0057 others(3): Show a0001c0001t0011g0061 a0001c0003t0006g0078 a0001c0003t0018g0057 a0001c0003t0052g0113 a0001c0003t0061g0055 a0001c0005t0021g0030	6	122	0.0492	52	c.221 others(73): Show c.2211+19883_2211+19884insATTTGGGTTCAAATATATATATAT ATATTTGGGTTCAAATATATATATATAT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	24/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25609565	T T	TCAAATAT others(45): Show TCAAATATATATATATATATTTGGATCCAAATATATATATATATATTTGG ATC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0040 a0001c0001t0004g0040	1	122	0.0082	52	c.221 others(73): Show c.2211+19883_2211+19884insATTTGGATCCAAATATATATATAT ATATTTGGATCCAAATATATATATATAT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	24/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25609565	T T	TCAAATAT others(45): Show TCAAATATATATATATATATTTGGATTCAAATATATATATATATATTTGG ATC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG00738.hp2 others(30): Show HG00642.hp1 HG00642.hp2 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01175.hp1 HG01243.hp1 HG01261.hp1 HG01496.hp2 HG02257.hp1 HG02280.hp2 HG02559.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02698.hp2 HG02895.hp1 HG02895.hp2 HG03098.hp1 HG03225.hp2 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03654.hp1 HG06807.hp2 NA18522.hp1 NA18977.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0011 a0001c0016	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(28): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0015 a0001c0001t0018 a0001c0001t0040 a0001c0001t0042 a0001c0001t0051 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0010 a0001c0002t0020 a0001c0002t0028 a0001c0002t0029 a0001c0002t0031 a0001c0002t0032 a0001c0002t0047 a0001c0003t0010 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0005 a0001c0004t0022 a0001c0004t0049 a0001c0004t0068 a0001c0006t0006 a0001c0006t0020 a0001c0011t0002 a0001c0016t0036	a0001c0001t0001g0036 a0001c0001t0004g0046 a0001c0001t0005g0102 others(30): Show a0001c0001t0001g0036 a0001c0001t0004g0046 a0001c0001t0005g0102 a0001c0001t0009g0065 a0001c0001t0015g0016 a0001c0001t0015g0082 a0001c0001t0018g0041 a0001c0001t0040g0038 a0001c0001t0042g0059 a0001c0001t0051g0053 a0001c0002t0001g0039 a0001c0002t0003g0088 a0001c0002t0005g0034 a0001c0002t0010g0118 a0001c0002t0020g0097 a0001c0002t0028g0014 a0001c0002t0029g0052 a0001c0002t0031g0058 a0001c0002t0032g0023 a0001c0002t0047g0076 a0001c0003t0010g0026 a0001c0004t0002g0049 a0001c0004t0002g0080 a0001c0004t0003g0007 a0001c0004t0004g0048 a0001c0004t0005g0089 a0001c0004t0022g0054 a0001c0004t0049g0086 a0001c0004t0068g0071 a0001c0006t0006g0098 a0001c0006t0020g0085 a0001c0011t0002g0110 a0001c0016t0036g0019	33	122	0.2705	52	c.221 others(73): Show c.2211+19883_2211+19884insATTTGGATTCAAATATATATATAT ATATTTGGATCCAAATATATATATATAT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	24/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8B1_chr18_57641426_57808315	57713240	C C	CTTCCTTC others(45): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTT TCT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0022 a0001c0001t0004g0022	1	314	0.0032	52	c.182 others(69): Show c.182-6654_182-6653insAGAAAGAAAGAAAGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57713240	C C	CTTCCTTC others(45): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTT TCT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0279 a0001c0001t0002g0279	1	314	0.0032	52	c.182 others(69): Show c.182-6654_182-6653insAGAAAGAAAGAAAGAAAGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57756291	G G	GTATATAT others(45): Show GTATATATATATACATATATATATATGTATATATATATATATACATATAT ATA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02976.hp1 HG03195.hp1 others(2): Show HG02630.hp2 HG02976.hp1 HG03195.hp1 HG03516.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0020	a0001c0001t0002g0213 a0001c0001t0003g0285 a0001c0001t0003g0303 others(2): Show a0001c0001t0002g0213 a0001c0001t0003g0285 a0001c0001t0003g0303 a0001c0001t0008g0102 a0001c0001t0020g0171	5	314	0.0159	52	c.-25 others(71): Show c.-25-24460_-25-24459insTATATATATGTATATATATATATATA CATATATATATATGTATATATATATA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57756291	G G	GTATATAT others(45): Show GTATATATATATACATATATATATGTATATATATATATATACATATATAT ATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG00597.hp2 others(12): Show HG00280.hp2 HG00438.hp2 HG00597.hp2 HG00621.hp1 HG00673.hp2 HG01255.hp2 HG01257.hp1 HG02071.hp1 HG02083.hp2 HG03017.hp2 NA18968.hp1 NA18979.hp1 NA19004.hp1 NA19065.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0011 a0001c0001t0023	a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0133 others(12): Show a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0133 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0256 a0001c0001t0002g0298 a0001c0001t0004g0050 a0001c0001t0005g0013 a0001c0001t0005g0132 a0001c0001t0010g0143 a0001c0001t0010g0146 a0001c0001t0011g0181 a0001c0001t0023g0167 a0001c0001t0023g0168	15	314	0.0478	52	c.-25 others(71): Show c.-25-24460_-25-24459insTATATATATATGTATATATATATATA TACATATATATATGTATATATATATA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57756294	T T	TATATATA others(45): Show TATATATATACATATATATATGTATATATATATATATACATATATATATA TAC	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0289 a0001c0001t0002g0289	1	314	0.0032	52	c.-25 others(71): Show c.-25-24463_-25-24462insGTATATATATATATGTATATATATAT ATATACATATATATATGTATATATAT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
ATP9B_chr18_79064394_79383283	79071399	C C	CTTTTTTT others(45): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	298	0.0034	52	c.119 others(69): Show c.119+1884_119+1885insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATPAF1_chr1_46627737_46673364	46651659	C C	CCCCCCCC others(45): Show CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCGTTGTTGTGTTGAGAG AGA	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	412	0.0024	52	c.588 others(67): Show c.588+921_588+922insTCTCTCTCAACACAACAACGGGGGGGGGGG GGGGGGGGGGGGGGGGGGGGGG	ATPAF1	ENSG00000123472.13	transcript	ENST00000574428.6	protein_coding	6/8			chr1	TogoVar
ATR_chr3_142444235_142583733	142496322	A A	ATATATAT others(45): Show ATATATATATACATATATATATATGTATATATATATACATGTATATATAT ATG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02630.hp1 HG02717.hp2 others(1): Show HG02145.hp2 HG02630.hp1 HG02717.hp2 HG03486.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0002 a0001c0004t0001 a0001c0004t0002	a0001c0004t0001g0157 a0001c0004t0001g0210 a0001c0004t0002g0003 others(1): Show a0001c0004t0001g0157 a0001c0004t0001g0210 a0001c0004t0002g0003 a0001c0004t0002g0004	4	322	0.0124	52	c.589 others(67): Show c.5898+38_5898+39insCATATATATATACATGTATATATATATACA TATATATATATGTATATATATA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	34/46			chr3	TogoVar
ATXN7L1_chr7_105599772_105881599	105664575	G G	GTGTGTGT others(45): Show GTGTGTGTATGTGTGTATATATATATATATATATATATATATATATATAT ATA	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0142 a0001c0001t0002g0142	1	252	0.0040	52	c.578 others(67): Show c.578+490_578+491insTATATATATATATATATATATATATATATA TATATATACACACATACACACA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	4/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105664575	G G	GTGTGTGT others(45): Show GTGTGTGTATGTGTGTGTATATATATATATATATATATATATATATATAT ATA	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0025 a0001c0001t0005g0025	1	252	0.0040	52	c.578 others(67): Show c.578+490_578+491insTATATATATATATATATATATATATATATA TATATACACACACATACACACA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	4/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105692424	T T	TCCTTCCT others(45): Show TCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCTTCCTTCCTTCCTCC CTC	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0246 a0001c0001t0004g0246	1	252	0.0040	52	c.356 others(71): Show c.356-27137_356-27136insGAGGGAGGAAGGAAGGAAGGAGGGAG GGAGGGAAGGAAGGAAGGAAGGAAGG	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105727748	A A	ATATATAT others(45): Show ATATATATATATATATATATATATATATATATACATATATATATATATAT ATG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0150 a0001c0001t0003g0150	1	252	0.0040	52	c.355 others(71): Show c.355+60855_355+60856insCATATATATATATATATATGTATATA TATATATATATATATATATATATATA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105733861	T T	TCCATCCA others(45): Show TCCATCCATCCATCCATCCATCTATGCTTCCATCCATCCACCCATCCACC CAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00741.hp2 HG01069.hp1 others(4): Show HG00323.hp1 HG00741.hp2 HG01069.hp1 HG01255.hp2 HG01884.hp1 HG02145.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0019 others(4): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0019 a0001c0001t0021 a0001c0001t0055 a0001c0001t0057 a0001c0001t0060	a0001c0001t0003g0150 a0001c0001t0005g0182 a0001c0001t0019g0062 others(4): Show a0001c0001t0003g0150 a0001c0001t0005g0182 a0001c0001t0019g0062 a0001c0001t0021g0130 a0001c0001t0055g0252 a0001c0001t0057g0229 a0001c0001t0060g0192	7	252	0.0278	52	c.355 others(71): Show c.355+54742_355+54743insGTGGGTGGATGGGTGGATGGATGGAA GCATAGATGGATGGATGGATGGATGG	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar

Search by Variant

Search

Search Results