regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP6V1A_chr3_113742035_113817056 | 113801714 | A | AGCAGCAG others(10): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249 | 1 | 312 | 0.0032 | 17 | c.149 others(36): Show |
ATP6V1A | ENSG00000114573.12 | transcript | ENST00000273398.8 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP6V1B1_chr2_70930900_70970431 | 70964114 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02055.hp2 HG03209.hp2 |
a0001a0002 | a0001c0017a0002c0012 | a0001c0017t0004a0002c0012t0005 | a0001c0017t0004g0046a0002c0012t0005g0349a0002c0012t0005g0352 | 3 | 440 | 0.0068 | 17 | c.114 others(34): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1B1_chr2_70930900_70970431 | 70965548 | T | TAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0182 | 2 | 440 | 0.0046 | 17 | c.*42 others(26): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 118 | chr2 | TogoVar | ||||||
ATP6V1E1_chr22_17587136_17633749 | 17631706 | A | ATATATAT others(10): Show |
upstream_gene_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 370 | 0.0027 | 17 | c.-30 others(28): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2958 | chr22 | TogoVar | ||||||
ATP6V1E1_chr22_17587136_17633749 | 17631706 | A | ATATATAT others(10): Show |
upstream_gene_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0088 | 1 | 370 | 0.0027 | 17 | c.-30 others(28): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2958 | chr22 | TogoVar | ||||||
ATP6V1E1_chr22_17587136_17633749 | 17631707 | T | TATATATA others(10): Show |
upstream_gene_variant | MODIFIER | HG01256.hp1 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0129a0001c0001t0007g0130 | 2 | 370 | 0.0054 | 17 | c.-30 others(28): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2959 | chr22 | TogoVar | ||||||
ATP6V1G3_chr1_198518222_198545680 | 198538891 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0044 | 2 | 405 | 0.0049 | 17 | c.82+ others(32): Show |
ATP6V1G3 | ENSG00000151418.12 | transcript | ENST00000367382.6 | protein_coding | 1/2 | chr1 | TogoVar | ||||||
ATP7A_chrX_77905693_78055395 | 77956726 | C | CTCTTTCT others(10): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0004 | a0004c0004 | a0004c0004t0009 | a0004c0004t0009g0135 | 1 | 233 | 0.0043 | 17 | c.-21 others(36): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | TogoVar | ||||||
ATP7A_chrX_77905693_78055395 | 78037980 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0065 | 1 | 233 | 0.0043 | 17 | c.351 others(34): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP7B_chr13_51927669_52016450 | 51953851 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01891.hp2 HG02886.hp1 others(1): Show |
a0002a0003a0005 | a0002c0002a0002c0011a0003c0003others(1): Show | a0002c0002t0002a0002c0011t0010a0003c0003t0005others(1): Show | a0002c0002t0002g0038a0002c0011t0010g0082a0003c0003t0005g0275others(1): Show | 4 | 302 | 0.0133 | 17 | c.244 others(36): Show |
ATP7B | ENSG00000123191.17 | transcript | ENST00000242839.10 | protein_coding | 9/20 | chr13 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42448396 | C | CTTTACTT others(10): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01175.hp2 HG01192.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(8): Show | a0001c0001t0002g0015a0001c0001t0002g0054a0001c0001t0002g0058others(14): Show | 17 | 310 | 0.0548 | 17 | c.289 others(36): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 30/36 | chr4 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25465711 | C | CTTTCTTT others(10): Show |
intron_variant | MODIFIER | HG01243.hp1 HG06807.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0068 | a0001c0002t0001g0039a0001c0004t0068g0071 | 2 | 122 | 0.0164 | 17 | c.77- others(32): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25481153 | A | AGGGAGAG others(10): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00738.hp1 others(72): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(67): Show | a0001c0001t0001g0036a0001c0001t0003g0093a0001c0001t0004g0040others(72): Show | 75 | 122 | 0.6148 | 17 | c.221 others(36): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25481167 | C | CGTGGGGA others(10): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0019 | a0001c0019t0007 | a0001c0019t0007g0029 | 1 | 122 | 0.0082 | 17 | c.221 others(36): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8B1_chr18_57641426_57808315 | 57680277 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 314 | 0.0032 | 17 | c.163 others(36): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 15/27 | chr18 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51623801 | A | AAAAAGAA others(10): Show |
intron_variant | MODIFIER | HG03139.hp2 NA19240.hp1 |
a0001 | a0001c0003 | a0001c0003t0051a0001c0003t0054 | a0001c0003t0051g0118a0001c0003t0054g0119 | 2 | 312 | 0.0064 | 17 | c.201 others(36): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 18/27 | chr20 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51658888 | C | CGGGGGGG others(10): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03225.hp2 HG03579.hp2 others(1): Show |
a0001 | a0001c0003a0001c0005 | a0001c0003t0014a0001c0003t0032a0001c0005t0009others(1): Show | a0001c0003t0014g0153a0001c0003t0032g0107a0001c0005t0009g0309others(1): Show | 4 | 312 | 0.0128 | 17 | c.129 others(36): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 13/27 | chr20 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51658898 | G | GGGGGGGG others(10): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0018 | a0001c0018t0009 | a0001c0018t0009g0154 | 1 | 312 | 0.0032 | 17 | c.129 others(36): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 13/27 | chr20 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51718814 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00099.hp2 HG02647.hp2 |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0015 | a0001c0002t0005g0286a0001c0002t0015g0047 | 2 | 312 | 0.0064 | 17 | c.328 others(34): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 3/27 | chr20 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51765642 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(10): Show | a0001c0001t0003g0068a0001c0001t0003g0069a0001c0001t0003g0070others(16): Show | 19 | 312 | 0.0609 | 17 | c.68+ others(32): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 1/27 | chr20 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79071398 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0146 | 1 | 298 | 0.0034 | 17 | c.119 others(34): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 1/29 | chr18 | TogoVar | ||||||
ATPAF1_chr1_46627737_46673364 | 46654528 | T | TTTATTTT others(10): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 412 | 0.0024 | 17 | c.490 others(32): Show |
ATPAF1 | ENSG00000123472.13 | transcript | ENST00000574428.6 | protein_coding | 4/8 | chr1 | TogoVar | ||||||
ATPAF2_chr17_18013021_18044168 | 18019177 | A | ACACACAC others(10): Show |
intron_variant | MODIFIER | NA19001.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0031 | 1 | 328 | 0.0031 | 17 | c.733 others(32): Show |
ATPAF2 | ENSG00000171953.16 | transcript | ENST00000474627.8 | protein_coding | 7/7 | chr17 | TogoVar | ||||||
ATPAF2_chr17_18013021_18044168 | 18019186 | C | CACACACA others(10): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 | 1 | 328 | 0.0031 | 17 | c.733 others(32): Show |
ATPAF2 | ENSG00000171953.16 | transcript | ENST00000474627.8 | protein_coding | 7/7 | chr17 | TogoVar | ||||||
ATPSCKMT_chr5_10220507_10254888 | 10249897 | T | TAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0005 | a0002c0005t0006 | a0002c0005t0006g0172 | 1 | 358 | 0.0028 | 17 | c.-25 others(24): Show |
ATPSCKMT | ENSG00000150756.14 | transcript | ENST00000511437.6 | protein_coding | 10 | chr5 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115223929 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 1 | 128 | 0.0078 | 17 | c.153 others(36): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 9/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115381432 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01258.hp1 HG01515.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(5): Show | a0001c0001t0002g0077a0001c0001t0002g0123a0001c0001t0003g0061others(7): Show | 10 | 128 | 0.0781 | 17 | c.317 others(38): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 19/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115403257 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02572.hp1 HG03195.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0014a0001c0001t0043a0001c0001t0048others(1): Show | a0001c0001t0014g0001a0001c0001t0043g0094a0001c0001t0048g0107others(1): Show | 4 | 128 | 0.0313 | 17 | c.326 others(36): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 20/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115738154 | T | TTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG03834.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0098a0001c0001t0009g0122 | 2 | 128 | 0.0156 | 17 | c.390 others(38): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115802021 | A | ACACACAC others(10): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0019 | 1 | 128 | 0.0078 | 17 | c.390 others(38): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115802046 | A | ACACACAC others(10): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01071.hp1 HG01123.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(7): Show | a0001c0001t0001g0098a0001c0001t0006g0100a0001c0001t0010g0018others(10): Show | 13 | 128 | 0.1016 | 17 | c.390 others(38): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115856428 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 128 | 0.0078 | 17 | c.401 others(36): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 28/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115868822 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0008 | a0002c0008t0044 | a0002c0008t0044g0063 | 1 | 128 | 0.0078 | 17 | c.401 others(38): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 28/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3512107 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01358.hp2 |
a0003 | a0003c0008a0003c0017 | a0003c0008t0005a0003c0017t0021 | a0003c0008t0005g0198a0003c0017t0021g0199 | 2 | 220 | 0.0091 | 17 | c.411 others(36): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3519006 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0012 | a0002c0012t0013 | a0002c0012t0013g0161 | 1 | 220 | 0.0046 | 17 | c.411 others(36): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRX_chrX_77499880_77791216 | 77585583 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02615.hp2 NA19091.hp1 |
a0001a0002 | a0001c0005a0002c0002 | a0001c0005t0005a0002c0002t0006 | a0001c0005t0005g0081a0002c0002t0006g0056 | 2 | 218 | 0.0092 | 17 | c.621 others(36): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 27/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77651217 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0148 | 1 | 218 | 0.0046 | 17 | c.455 others(34): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 15/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77671167 | A | AAATATAT others(10): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0065 | 1 | 218 | 0.0046 | 17 | c.380 others(36): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 10/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77671167 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02717.hp1 NA21309.hp2 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0002a0001c0010t0006 | a0001c0001t0002g0182a0001c0010t0006g0197 | 2 | 218 | 0.0092 | 17 | c.380 others(36): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 10/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77790990 | C | CTATAATA others(10): Show |
upstream_gene_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0163 | 1 | 218 | 0.0046 | 17 | c.-49 others(28): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 4775 | chrX | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142528879 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0194 | 1 | 322 | 0.0031 | 17 | c.394 others(36): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 21/46 | chr3 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142528879 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0159 | 1 | 322 | 0.0031 | 17 | c.394 others(36): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 21/46 | chr3 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142528880 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG00642.hp2 NA20129.hp2 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0012a0001c0006t0001g0021 | 2 | 322 | 0.0062 | 17 | c.394 others(36): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 21/46 | chr3 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142544452 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02083.hp1 HG03669.hp1 NA18978.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057a0001c0001t0001g0058a0001c0001t0001g0059others(2): Show | 5 | 322 | 0.0155 | 17 | c.335 others(36): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 16/46 | chr3 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45751763 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00408.hp1 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0098a0001c0001t0002g0153 | 2 | 316 | 0.0063 | 17 | c.117 others(38): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN10_chr22_45666834_45850307 | 45751763 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0111a0001c0001t0004g0112 | 2 | 316 | 0.0063 | 17 | c.117 others(38): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN10_chr22_45666834_45850307 | 45751763 | A | AAAAATAA others(10): Show |
intron_variant | MODIFIER | NA18988.hp1 NA19057.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045a0001c0001t0002g0092 | 2 | 316 | 0.0063 | 17 | c.117 others(38): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN1_chr6_16294112_16766460 | 16316865 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01361.hp2 NA20300.hp1 |
a0017 | a0017c0022 | a0017c0022t0001 | a0017c0022t0001g0104a0017c0022t0001g0146 | 2 | 182 | 0.0110 | 17 | c.191 others(36): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 7/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16390680 | T | TACACACA others(10): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0009 | a0009c0025 | a0009c0025t0031 | a0009c0025t0031g0058 | 1 | 182 | 0.0055 | 17 | c.-16 others(38): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16395270 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0007 | a0007c0059 | a0007c0059t0012 | a0007c0059t0012g0030 | 1 | 182 | 0.0055 | 17 | c.-16 others(38): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar |